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Sample records for overlap turner syndrome

  1. Neurofibromatosis type 1 with overlap Turner syndrome and Klinefelter syndrome.

    PubMed

    Hatipoglu, Nihal; Kurtoglu, Selim; Kendirci, Mustafa; Keskin, Mehmet; Per, Hüseyin

    2010-02-01

    Turner's syndrome is a sex chromosome disorder. Klinefelter's syndrome is one of the most severe genetic diseases. Neurofibromatosis is an autosomal dominant disorder characterized by cafe-au-lait spots and fibromatous tumors of the skin. In this article, we report the overlap of neurofibromatosis-1 with Turner and Klinefelter syndromes. Thus, these disorders might overlap within the same patient. Due to these cases, we suggest that each patient with Turner-like symptoms or Klinefelter's-like syndrome, be carefully examined for café au lait macules before the initiation of hormone replacement treatment.

  2. Turner Syndrome

    MedlinePlus

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

  3. 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- ...

  4. Turner Syndrome

    MedlinePlus

    ... opportunity to exchange ideas, develop coping strategies and locate resources. Peer groups for girls with Turner syndrome can help reinforce your daughter's self-esteem and provide her with a social network of people who understand her experience with Turner syndrome. References ...

  5. 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 ...

  6. Genetics Home Reference: Turner syndrome

    MedlinePlus

    ... Me Understand Genetics Home Health Conditions Turner syndrome Turner syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Turner syndrome is a chromosomal condition that affects development in ...

  7. 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…

  8. [Clinical guideline 'Turner syndrome'].

    PubMed

    van den Akker, Erica L T; van Alfen, A A E M Janiëlle; Sas, Theo C J; Kerstens, Michiel N; Cools, Martine; Lambalk, Cornelis B

    2014-01-01

    Turner syndrome occurs in women who are missing one X chromosome. The most obvious symptoms are small stature and ovarian failure. Turner patients have an increased risk of a large number of disorders, and should therefore have lifelong medical supervision. Recent insights into patient management have been incorporated into the guidelines. Patients are increasingly involved in their own treatment. In patients with 45,X karyotype, Y-chromosomal material is actively sought in a larger number of cells and/or other tissues, using FISH. Pubertal induction therapy, if required, is initiated at an appropriate age. Egg donation or vitrification are new therapeutic options for fertility treatment. Monitoring for cardiac and vascular disease using cardiac ultrasound and MRI is performed more often, partly in connection with the risk of aortal dissection. The coordination of care of patients with Turner syndrome is concentrated in specialized centres in the Netherlands and Belgium.

  9. Turner syndrome and its variants.

    PubMed

    Bharath, R; Unnikrishnan, A G; Thampy, M V; Anilkumar, Alka; Nisha, B; Praveen, V P; Nair, Vasantha; Jayakumar, R V; Kumar, Harish

    2010-02-01

    Case records of female patients with karyotype proven turner syndrome were analyzed. 11 patients had classic Turner karyotype (Group 1) and 13 patients had karyotype suggestive of one of the variants of Turner syndrome (Group 2). There was a median difference of 3 years between the age of presentation and the age of diagnosis in Group 2. Out of the thirteen patients in Group 2, 4 had no clinical stigmata of Turner Syndrome; the rest (n=9) had one or more of the typical clinical stigmata of Turner Syndrome. One patient with a complex mosaic karyotype also had an intracranial medulloblastoma. One patient in each group had coarctation of the aorta. 5 patients in Group 1 and 3 patients in Group 2 had primary hypothyroidism and received levothyroxine. The median Thyroid Stimulating Hormone levels were significantly higher among patients in group 1 than in group 2.

  10. 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.

  11. What Are Common Treatments for Turner Syndrome?

    MedlinePlus

    ... Resources and Publications What are common treatments for Turner syndrome? Skip sharing on social media links Share this: Page Content Although there is no cure for Turner syndrome, some treatments can help minimize its symptoms. These ...

  12. 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…

  13. 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.

  14. Mosaic Turner syndrome associated with schizophrenia.

    PubMed

    Jung, Sook Young; Park, Joo Won; Kim, Dong Hyun; Jun, Yong Hoon; Lee, Jeong Seop; Lee, Ji Eun

    2014-03-01

    Turner syndrome is a sex-chromosome disorder; occurring in 1 in 2,500 female births. There are sporadic few case reports of concomitant Turner syndrome with schizophrenia worldwide. Most Turner females had a 45,X monosomy, whereas the majority of comorbidity between Turner syndrome and schizophrenia had a mosaic karyotype (45,X/46,XX). We present a case of a 21-year-old woman with Turner syndrome, mosaic karyotype (45,X/46,XX), showing mental retardation, hypothyroidism, and schizophrenia. HOPA gene within Xq13 is related to mental retardation, hypothyroidism, and schizophrenia. Our case may be a potential clue which supports the hypothesis for involvement of genes on X chromosome in development of schizophrenia. Further studies including comorbid cases reports are need in order to discern the cause of schizophrenia in patients having Turner syndrome.

  15. Turner Syndrome: Other FAQs

    MedlinePlus

    ... can cause certain learning challenges, including problems learning mathematics and with memory. 7 Most girls and women ... syndrome usually require care from a variety of specialists throughout their lives. Will she be able to ...

  16. Triple X female and Turner's syndrome offspring.

    PubMed Central

    Guzmán-Toledano, R; Ayala, A; Zarate, A; Jimenez, M

    1976-01-01

    A mentally retarded young female having 47 chromosomes with a triple X karotype produced a child with Turner's syndrome associated with mental defeciency. To our knowledge this is the first example of a triple X female giving birth to a child with Turner's syndrome. Images PMID:1018311

  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.

  18. [Gonadal dysgenesis in Turner syndrome].

    PubMed

    Ogata, Tsutomu

    2004-02-01

    This review article summarizes the current knowledge on the development of gonadal dysgenesis in Turner syndrome. The degree of gonadal dysfunction is well correlated with the size of unpaired region of the sex chromosomes and is independent of the dosage of gene(s) on the sex chromosomes. Thus, it is deduced that sex chromosome aberrations result in meiotic pairing failure of homologous chromosomes, leading to accelerated oocyte loss and resultant gonadal dysgenesis. Although the underlying factor responsible for the oocyte loss remains to be determined, it is likely that activation of apoptotic mechanism to prevent the generation of abnormal gametes plays an essential role in the rapid oocyte degeneration.

  19. Limb lengthening in Turner syndrome.

    PubMed

    Noonan, K J; Leyes, M; Forriol, F

    1997-01-01

    We report the results and complications of eight consecutive patients who underwent bilateral tibial lengthenings for dwarfism associated with Turner syndrome. Lengthening was performed via distraction osteogenesis with monolateral external fixation. Tibias were lengthened an average distance of 9.2 centimeters or 33 percent of the original tibial length. The average total treatment time was 268 days. The overall complication rate was 169 percent for each tibia lengthened and each segment required an average of 1.7 additional procedures. Seven cases (44 percent) required Achilles tendon lengthening and nine cases (56 percent) developed angulation before or after fixator removal; six of these segments required corrective osteotomy for axial malalignment. Two cases (12.5 percent) developed distraction site nonunion and required plating and bone grafting. From this series we conclude that tibial lengthening via distraction osteogenesis can be used to treat disproportionate short stature in patients with Turner syndrome. However, the benefit of a cosmetic increase in height may not compensate for the high complication rate. Efforts to determine the psychosocial and functional benefits of limb lengthening in patients with short stature is necessary to determine the true cost-benefit ratio of this procedure.

  20. Limb lengthening in Turner syndrome.

    PubMed Central

    Noonan, K. J.; Leyes, M.; Forriol, F.

    1997-01-01

    We report the results and complications of eight consecutive patients who underwent bilateral tibial lengthenings for dwarfism associated with Turner syndrome. Lengthening was performed via distraction osteogenesis with monolateral external fixation. Tibias were lengthened an average distance of 9.2 centimeters or 33 percent of the original tibial length. The average total treatment time was 268 days. The overall complication rate was 169 percent for each tibia lengthened and each segment required an average of 1.7 additional procedures. Seven cases (44 percent) required Achilles tendon lengthening and nine cases (56 percent) developed angulation before or after fixator removal; six of these segments required corrective osteotomy for axial malalignment. Two cases (12.5 percent) developed distraction site nonunion and required plating and bone grafting. From this series we conclude that tibial lengthening via distraction osteogenesis can be used to treat disproportionate short stature in patients with Turner syndrome. However, the benefit of a cosmetic increase in height may not compensate for the high complication rate. Efforts to determine the psychosocial and functional benefits of limb lengthening in patients with short stature is necessary to determine the true cost-benefit ratio of this procedure. Images Figure 1a Figure 1b Figure 1c PMID:9234980

  1. Genomic imprinting and Turner syndrome.

    PubMed

    Bondy, Carolyn A; Hougen, Helen Y; Zhou, Jian; Cheng, Clara M

    2012-05-01

    The term 'genomic imprinting' refers to selective repression of transcription from distinct chromosomal regions determined by their maternal or paternal inheritance. There are two potentially important aspects of imprinting that may manifest in individuals with X monosomy, or Turner syndrome (TS). Given that men are monosomic for Xm while women are mosaic for Xm:Xp, genomic imprinting of important X-linked genes should be associated with sexually dimorphic traits, e.g., social skills, regional fat deposition and adult height. Such X-imprinted traits are predicted to differ in Turner groups monosomic for Xm vs. Xp. We review relevant studies of psychosocial attributes, regional fat distribution and height in TS related to parent of origin for the single normal X chromosome. In addition, we review recent evidence that monosomy for the X chromosome per se, regardless of the parental origin, may disrupt the normal distribution of autosomal imprint patterns. This may contribute to a high rate of fetal loss in human monosomy via impaired placentation in the most severe cases, and to loss of paternal contribution to growth in the mildest manifestation.

  2. Precocious puberty in Turner syndrome.

    PubMed

    Sabin, Matthew A; Zacharin, Margaret R

    2007-11-01

    Turner syndrome (TS) affects approximately 1 in 2000 liveborn girls. It is a common cause of short stature and is often, but not universally, associated with characteristic dysmorphic features and ovarian dysgenesis. Genotype/phenotype correlation in TS is generally poor and girls with TS may occasionally have normal functioning ovarian tissue, with approximately 30-40% entering puberty, 4% achieving menarche and 1% being fertile. In this report, we describe a girl with mosaic TS who unusually experienced spontaneous precocious puberty with associated accelerated longitudinal growth during mid childhood. This case acts as a useful clinical vignette with which to highlight important aspects of diagnosis and treatment in children with TS, particularly in relation to future growth potential and issues relating to fertility.

  3. 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…

  4. 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

  5. COGNITIVE PROFILE OF TURNER SYNDROME

    PubMed Central

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

    2011-01-01

    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 report, we review previous and current research related to the cognitive profile of TS. We also discuss how cognitive impairments in this syndrome may reflect integrative rather than modular deficits. For example, the less commonly reported areas of verbal difficulty in TS and certain visual–spatial deficits seem significantly influenced by impairments in executive function and spatially loaded stimuli. We provide a summary of cognitive testing measures used in the assessment of visual–spatial and executive skills, which includes test domain descriptions as well as a comprehensive examination of social cognitive function in TS. This review concludes with a discussion of ecological interpretations regarding the meaning of cognitive deficits in TS at the individual level. PMID:20014362

  6. 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.

  7. Dissection of the aorta in Turner's syndrome.

    PubMed Central

    Price, W H; Wilson, J

    1983-01-01

    Three deaths from dissection of the aorta in a series of 157 adult women with Turner's syndrome are reported. These are greatly in excess of the numbers expected. None of the three patients had a coarctation of the aorta. One had aortic regurgitation but there was no reason to believe that the aorta in the other two patients had been subjected to unusual haemodynamic stresses. Cystic medial necrosis of the aorta was described in two patients on whom necropsies were carried out. It is concluded that there is probably a greatly increased risk of dissection of the aorta in Turner's syndrome even in the absence of any other abnormality of the aorta and aortic valve. Previously reported cases of aortic dissection in Turner's syndrome are discussed. PMID:6842536

  8. Ocular motor indicators of executive dysfunction in fragile X and Turner syndromes.

    PubMed

    Lasker, Adrian G; Mazzocco, Michèle M M; Zee, David S

    2007-04-01

    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 syndrome, and 40 females with neither disorder who comprised the comparison group. Group differences emerged for both the fragile X and Turner syndrome groups, each relative to the comparison group: Females with fragile X had deficits in generating memory-guided saccades, predictive saccades, and saccades made in the overlap condition of a gap/overlap task. Females with Turner syndrome showed deficits in generating memory-guided saccades, but not during either the predictive saccade or gap/overlap task. Females with Turner syndrome, but not females with fragile X, showed deficits in visually guided saccades and anti-saccades. These findings indicate that different brain regions are affected in the two disorders, and suggest that different pathways lead to the similar cognitive phenotypes described for fragile X and Turner syndromes.

  9. Turner syndrome and meningioma: support for a possible increased risk of neoplasia in Turner syndrome.

    PubMed

    Pier, Danielle B; Nunes, Fabio P; Plotkin, Scott R; Stemmer-Rachamimov, Anat O; Kim, James C; Shih, Helen A; Brastianos, Priscilla; Lin, Angela E

    2014-01-01

    Neoplasia is uncommon in Turner syndrome, although there is some evidence that brain tumors are more common in Turner syndrome patients than in the general population. We describe a woman with Turner syndrome (45,X) with a meningioma, in whom a second neoplasia, basal cell carcinomas of the scalp and nose, developed five years later in the absence of therapeutic radiation. Together with 7 cases of Turner syndrome with meningioma from a population-based survey in the United Kingdom, and 3 other isolated cases in the literature, we review this small number of patients for evidence of risk factors related to Turner syndrome, such as associated structural anomalies or prior treatment. We performed histological and fluorescent in situ hybridization (FISH) of 22q (NF2 locus) analyses of the meningeal tumor to search for possible molecular determinants. We are not able to prove causation between these two entities, but suggest that neoplasia may be a rare associated medical problem in Turner syndrome. Additional case reports and extension of population-based studies are needed.

  10. 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…

  11. Spondyloepiphyseal dysplasia tarda in Turner syndrome.

    PubMed

    Massa, G; Vanderschueren-Lodeweyckx, M

    1989-11-01

    A girl with short stature is described in whom chromosomal analysis revealed a 45,X/46,XX mosaicism and in whom radiological investigations disclosed the diagnosis of X-linked spondyloepiphyseal dysplasia tarda. This is the first report of the occurrence of X-linked spondyloepiphyseal dysplasia tarda in a child with Turner syndrome.

  12. Supernumerary chromosomes in mosaic Turner syndrome.

    PubMed

    Thong, M K; Manonmani, V; Norlasiah, I S

    1996-12-01

    The finding of a supernumerary or marker chromosome in a karyotype poses difficulty in genetic counselling. The true incidence and significance of this chromosomal aberration is unknown in Malaysia. We report two patients who presented with supernumerary chromosomes in mosaic Turner syndrome.

  13. [Turner-like syndrome: a case report].

    PubMed

    Velletri, M R; Valenzise, M; Wasniewska, M; Arasi, S; Santisi, A; Romeo, M; Pitrolo, E; Santucci, S; Corica, D; Crisafulli, R; Zirilli, G

    2013-01-01

    A prepubescent 11 year-old girl came to our attention for short stature. Auxological evaluation showed peculiar phenotype. In order to exclude Turner syndrome standard karyotype was performed with normal result. Because of anemia and selective deficiency of the erythroid lineage further investigations were performed and a diagnosis of Blackfan-Diamond anemia was made.

  14. 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

  15. [Late diagnosis of Turner syndrome: therapeutic implications].

    PubMed

    Candel González, F J; Matesanz David, M; Vivancos Velasco, R; Samaniego Olano, L A; Sanz de Barros, R; Candel Monserrate, I; Serrano Ríos, M

    2000-04-01

    We report the case of a patient with Turner's syndrome, whose special peculiarity is that its clinical signs have gone unnoticed despite the presence of several morphological features and functional disorders which must have induced it precociously. It's about a 58 years old patient with an aortic metalic valve in treatment with dicumarinics, who came to emergencies with a severe anemic syndrome because of a peptic ulcer propitiated by the hypoprotrombinaemia. In the physical examination some typical signs of the syndrome were detected. The karyotype verified the existance of Turner (45X0). We insist on the need of an early diagnosis, in order to prevent the short stature and to offer a satisfactory sexual development, and we include an actualization of the different approachments in the therapy and management of the disease.

  16. Juvenile ankylosing spondylitis in Turner syndrome.

    PubMed

    Sandhya, P; Danda, Debashish; Danda, Sumita; Srivastava, Vivi M

    2013-01-01

    Juvenile ankylosing spondylitis (JAS) is a chronic autoimmune disorder which causes considerable morbidity when left untreated; it occurs predominantly in men. We describe an Asian Indian woman who had JAS with phenotypic features of Turner syndrome (TS) and was found to be a mosaic for 45, X/46, X, psu idic (X) (p11) by karyotyping and fluorescence in situ hybridization (FISH) studies of peripheral blood. The absence of Y chromosome material was confirmed by FISH. Haplo-insufficiency of the X chromosome can predispose to autoimmunity. To the best of our knowledge, this is the first report of JAS in association with mosaic Turner syndrome. This case highlights the possible effects of gene dosage in development of an autoimmune disease.

  17. 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.

  18. [Y chromosome structural abnormalities and Turner's syndrome].

    PubMed

    Ravel, C; Siffroi, J-P

    2009-06-01

    Although specifically male, the human Y chromosome may be observed in female karyotypes, mostly in women with Turner syndrome stigmata. In women with isolated gonadal dysgenesis but otherwise normal stature, the testis determining factor or SRY gene may have been removed from the Y chromosome or may be mutated. In other women with Turner syndrome, the karyotype is usually abnormal and shows a frequent 45,X/46,XY mosaicism. In these cases, the phenotype depends on the ratio between Y positive and 45,X cell lines in the body. When in mosaicism, Y chromosomes are likely to carry structural abnormalities which explain mitotic instability, such as the existence of two centromeres. Dicentric Y isochromosomes for the short arm (idic[Yp]) or ring Y chromosomes (r[Y]) are the most frequent abnormal Y chromosomes found in infertile patients and in Turner syndrome in mosaic with 45,X cells. Although monocentric, deleted Y chromosomes for the long arm and those carrying microdeletions in the AZF region are also instable and are frequently associated with a 45,X cell line. Management of infertile patients carrying such abnormal Y chromosomes must take into account the risk and the consequences of a mosaicism in the offspring.

  19. [Personage-Turner syndrome--case report].

    PubMed

    Tomczykiewicz, Kazimierz; Stepień, Adam; Staszewski, Jacek

    2011-08-01

    Personage-Turner syndrome or acute brachial radiculitis is rare syndrome. In typical cases it was manifested by strong pain of shoulder region and the weakness of muscles which are supplies by individual nerves or part of brachial plexus and in longer time with atrophy. Aetiology of this disease is unknown, probably on the autoimmuno-inflammatory background. Diagnosis is made on the typical clinical picture and in exclusion many illness with impairment brachial plexus. In presented case the course of disease as well as executed investigations suggested that discopathy could be the reason of paresis, however renewed estimation caused the change of the diagnosis.

  20. [Gonadal function in Turner syndrome].

    PubMed

    Alves, Márcia; Bastos, Margarida; Almeida Santos, Teresa; Carrilho, Francisco

    2013-01-01

    Introdução: A síndrome de Turner caracteriza-se pela ausência, parcial ou total, de um cromossoma X no sexo feminino, sendo uma das cromossomopatias mais frequentes. O diagnóstico é realizado através do cariótipo e as suas manifestações incluem o hipogonadismo primário, antes ou após a puberdade (disgenesia gonadal). O grau de disfunção e a extensão dos defeitos gonadais são variáveis.Objectivos: Pretendeu-se avaliar a clínica, cariótipo, função gonadal e características ecográficas do útero e ovários de mulheres com síndrome de Turner.Material e Métodos: Estudo retrospectivo de doentes com síndrome de Turner, seguidas nos Serviços de Endocrinologia ou Reprodução Humana dos Hospitais da Universidade de Coimbra - Centro Hospitalar e Universitário de Coimbra, E.P.E. Avaliou-se toda a amostra e consideraram-se o grupo 1 (com puberdade e menarca espontânea) e grupo 2 (sem puberdade espontânea). Parâmetros avaliados: idade do estudo inicial, puberdade, cariótipo, FSH, ecografia pélvica inicial e pós-pubertária, celioscopia e indução pubertária. Estudo estatístico: SPSS (20.0).Resultados: Amostra: 79 doentes, 14,7 ± 6,6 anos. Ausência de sinais pubertários em 57,1%, amenorreia primária 67,1% e secundária 6,6%. Cariótipo: monossomia X-37,2%, mosaico-37,2%, alterações estruturais de X-25,6%. Mediana da FSH 59,5mUI/mL. Ecografia inicial: útero normal-34,2%, atrófico-65,8%; ovários normais-21,6%, atróficos-78,4%, com folículos-5,1%. Ecografia pós-pubertária: útero normal-67,9%, atrófico-32,1%; ovários normais-36,4%, atróficos-63,6%. A laparoscopia realizada em 16 (20,3%) doentes confirmou os achados ecográficos. Duas mulheres com puberdade induzida engravidaram: uma espontaneamente, sem evolução; outra pordoação de ovócitos, evolutiva. Grupo 1 (com puberdade e menarca espontânea): 20 (25,3%) doentes, 16,1 ± 8,9 anos. Puberdade na avaliação inicial: M1-22,2%, M2-33,3%, M3-16,7%, M4-16,7%, M5-11,1%. Cari

  1. Mechanisms of Lethal Cerebrovascular Accidents in Turner Syndrome.

    PubMed

    Byard, Roger W

    2016-05-01

    A case of intracerebral hemorrhage in Turner syndrome is reported with an analysis of possible causes of cerebrovascular accidents in this condition. A 42-year-old woman with known Turner syndrome died soon after hospital admission having been found unconscious at her home address. At autopsy, she showed typical features of Turner syndrome with short stature, webbing of the neck, underdeveloped breasts, and an increased carrying angle of the arm. Death was due to a large left-sided intracerebral hemorrhage extending from the left basal ganglia into the white matter of the frontal lobe and lateral ventricle. Cases of unexpected death in Turner syndrome may arise from occult cerebrovascular accidents which may be hemorrhagic or nonhemorrhagic. Associated features include hypertension, vascular malformations, accelerated atherogenesis, cystic medial necrosis, and moyamoya syndrome. The possibility of Turner syndrome should be considered in cases where there has been a lethal cerebrovascular event in a younger woman.

  2. 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.…

  3. Aneurysmal dilatation of medium caliber arteries in Turner syndrome.

    PubMed

    Polkampally, Pritam R; Matta, Jatin R; McAreavey, Dorothea; Bakalov, Vladimir; Bondy, Carolyn A; Gharib, Ahmed M

    2011-01-01

    Turner syndrome is the most common chromosomal abnormality in female subjects, affecting 1 in 2000 live births. The condition is associated with a generalized vasculopathy as well as congenital cardiac and other defects. We report aneurysmal dilation of medium caliber arteries involving the celiac axis and coronary vessels in two women with Turner syndrome.

  4. 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

  5. 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

  6. 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.

  7. Turner syndrome: the case of the missing sex chromosome.

    PubMed

    Zinn, A R; Page, D C; Fisher, E M

    1993-03-01

    Turner syndrome is the phenotype associated with the absence of a second sex chromosome in humans. Recent observations support the hypothesis that the phenotype results from haploid dosage of genes that are common to the X and Y chromosomes and that escape X inactivation. A goal of current studies is the identification of these "Turner' genes.

  8. Fertility and Pregnancy in Turner Syndrome.

    PubMed

    Bouet, Pierre-Emmanuel; Godbout, Ariane; El Hachem, Hady; Lefebvre, Maude; Bérubé, Lyne; Dionne, Marie-Danielle; Kamga-Ngande, Carole; Lapensée, Louise

    2016-08-01

    Turner syndrome (TS) occurs in one in 2500 live female births and is one of the most common chromosomal abnormalities in women. Pregnancies in women with TS, conceived with either autologous or donated oocytes, are considered high risk because of the associated miscarriages and life-threatening cardiovascular complications (aortic dissection, severe hypertension). Therefore, it is imperative to conduct a full preconception evaluation and counselling that includes cardiac assessment with Holter blood pressure monitoring, echocardiography, and thoracic MRI. Abnormal findings, such an aortic dilatation, mandate close monitoring throughout the pregnancy and the immediate postpartum period and could possibly contraindicate pregnancy. When in vitro fertilization using donated oocytes is performed in these women, only a single embryo should be transferred. Women with a Turner mosaic karyotype appear to have a lower risk of obstetrical and cardiovascular complications but should nevertheless undergo the full preconception evaluation. In this article, we offer guidelines on the management of women with TS in the preconception period, during pregnancy, and postpartum.

  9. 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.

  10. 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 ...

  11. CEREBRAL VENOUS THROMBOSIS AND TURNER SYNDROME: A RARE REPORTED ASSOCIATION.

    PubMed

    Guler, A; Alpaydin, S; Bademkiran, F; Sirin, H; Celebisoy, N

    2015-01-01

    Turner Syndrome is the only known viable chromosomal monosomy, characterised by the complete or partial absence of an X chromosome. It's the most common chromosomal abnormality in females. Apart from the well known dysmorphic features of the syndrome, it has been associated with a number of vascular pathologies; mainly involving the cardiovascular, renovascular, peripheral vascular and cerebrovascular system. It seems striking that thromboembolism is not considered as a feature of the syndrome. Most of the thromboembolism cases are related to the arterial vascular system; except for some rare reported portal venous thrombosis cases, peripheral venous thrombosis cases and to the best of our knowledge a single case of cerebral venous thrombosis with Dandy Walker malformation and polymicrogyria. We herein report a cerebral venous thrombosis case with Turner Syndrome. With no other found underlying etiology, we want to highlight that Turner Syndrome, itself, may have a relationship not only with the cerebral arterial vascular system pathologies but also with the cerebral venous thrombosis.

  12. Aortopathies in Turner syndrome -- new strategies for evaluation and treatment.

    PubMed

    Kriksciuniene, Ruta; Ostrauskas, Rytas; Zilaitiene, Birute

    2015-01-01

    Turner syndrome is a rare genetic disorder which impairs women's growth, reproductive function, cardiovascular development and other functions. This syndrome has been proposed as an independent risk marker for cardiovascular disease. Despite this, life-threatening cardiovascular outcomes affecting young women are dismissed because of incomplete follow up. During assessment due to their smaller stature, it should be noted that, although the ascending aorta diameter is normal in absolute terms, after indexation for body size, patients with Turner syndrome may have a dilated aorta.Based on recent guidelines and the latest studies, there is new evidence on the use of magnetic resonance imaging in diagnosing aortic lesions. New management possibilities of aortopathies have also been discussed. This approach should optimise medical care for women with Turner syndrome, but many areas of uncertainty still remain in the diagnosis and management of this syndrome, and new prospective studies are needed.

  13. Down-Turner syndrome: case report and review.

    PubMed Central

    Van Buggenhout, G J; Hamel, B C; Trommelen, J C; Mieloo, H; Smeets, D F

    1994-01-01

    We present a male patient with Down-Turner mosaicism (45,X/46,X,+21/47,XY,+21) and review 27 similar cases reported so far. Clinical features of Down's syndrome were present in all cases, whereas a combination of features of both Ullrich-Turner syndrome and Down's syndrome was reported in 61% of the patients. However, one has to bear in mind that several stigmata of Ullrich-Turner syndrome can also be present in patients with Down's syndrome and vice versa. In most of the patients two different cell lines were encountered, although cases with one, three, and even four different cell lines have been reported. Of 28 patients, 21 showed female external genitalia, four were phenotypically male, and three showed ambiguous genitalia. Only six patients (21%) carried a Y chromosome, which is far less than expected. Images PMID:7837259

  14. Concurrent Van der Woude syndrome and Turner syndrome: A case report.

    PubMed

    Los, Evan; Baines, Hayley; Guttmann-Bauman, Ines

    2017-01-01

    Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 years 9 months. Short stature was initially misattributed to Van der Woude syndrome and pituitary insufficiency associated with clefts before correctly diagnosing Turner syndrome. We discuss the prevalence of delayed diagnosis of Turner syndrome, the rarity of reports of concurrent autosomal chromosome mutation and sex chromosome deletion, as well as the need to consider the diagnosis of Turner syndrome in all girls with short stature regardless of prior medical history.

  15. Concurrent Van der Woude syndrome and Turner syndrome: A case report

    PubMed Central

    Los, Evan; Baines, Hayley; Guttmann-Bauman, Ines

    2017-01-01

    Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 years 9 months. Short stature was initially misattributed to Van der Woude syndrome and pituitary insufficiency associated with clefts before correctly diagnosing Turner syndrome. We discuss the prevalence of delayed diagnosis of Turner syndrome, the rarity of reports of concurrent autosomal chromosome mutation and sex chromosome deletion, as well as the need to consider the diagnosis of Turner syndrome in all girls with short stature regardless of prior medical history. PMID:28228961

  16. Concurrent insulinoma with mosaic Turner syndrome: A case report.

    PubMed

    Wang, Shaoyun; Yang, Lijuan; Li, Jie; Mu, Yiming

    2015-03-01

    Turner syndrome is a chromosomal abnormality in which the majority of patients have a 45XO karyotype, while a small number have a 45XO/47XXX karyotype. Congenital adrenal hyperplasia has been previously reported in patients with Turner syndrome. Although insulinomas are the most common type of functioning pancreatic neuroendocrine tumor and have been reported in patients with multiple endocrine neoplasias, the tumors have not been reported in patients with mosaic Turner syndrome. The present study reports the first case of an insulinoma in a patient with 45XO/47XXX mosaic Turner syndrome. The patient suffered from recurrent hypoglycemia, which was relieved following ingestion of glucose or food. A 5-h glucose tolerance test was performed and the levels of glucose, C-Peptide and insulin were detected. In addition, computed tomography (CT) and ultrasound scanning were performed to evaluate the possibility of an insulinoma. Pathological examination and karyotyping were performed on a surgical specimen and a whole blood sample, respectively. The patient was found to suffer from premature ovarian failure, and a physical examination was consistent with a diagnosis of Turner syndrome. An ultrasound scan demonstrated streak ovaries and the patient was found to have a 45XO/47XXX karyotype. Furthermore, a lesion was detected in the pancreas following CT scanning, which was identified as an insulinoma following surgical removal and histological examination. In conclusion, the present study reports the first case of an insulinoma in a patient with mosaic Turner syndrome. Since mosaic Turner syndrome and insulinoma are rare diseases, an association may exist that has not been previously identified.

  17. Approach to the patient with Turner syndrome.

    PubMed

    Davenport, Marsha L

    2010-04-01

    Turner syndrome (TS) occurs in about 1:4000 live births and describes females with a broad constellation of problems associated with loss of an entire sex chromosome or a portion of the X chromosome containing the tip of its short arm. TS is associated with an astounding array of potential abnormalities, most of them thought to be caused by haploinsufficiency of genes that are normally expressed by both X chromosomes. A health care checklist is provided that suggests screening tests at specific ages and intervals for problems such as strabismus, hearing loss, and autoimmune thyroid disease. Four areas of major concern in TS are discussed: growth failure, cardiovascular disease, gonadal failure, and learning disabilities. GH therapy should generally begin as soon as growth failure occurs, allowing for rapid normalization of height. Cardiac imaging, preferably magnetic resonance imaging, should be performed at diagnosis and repeated at 5- to 10-yr intervals to assess for congenital heart abnormalities and the emergence of aortic dilatation, a precursor to aortic dissection. Hypertension should be aggressively treated. For those with gonadal dysgenesis, hormonal replacement therapy should begin at a normal pubertal age and be continued until the age of 50 yr. Transdermal estradiol provides the most physiological replacement. Finally, nonverbal learning disabilities marked by deficits in visual-spatial-organizational skills, complex psychomotor skills, and social skills are common in TS. Neuropsychological testing should be routine and families given support in obtaining appropriate therapy, including special accommodations at school.

  18. 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.

  19. Turner syndrome and the evolution of human sexual dimorphism

    PubMed Central

    Crespi, Bernard

    2008-01-01

    Turner syndrome is caused by loss of all or part of an X chromosome in females. A series of recent studies has characterized phenotypic differences between Turner females retaining the intact maternally inherited versus paternally inherited X chromosome, which have been interpreted as evidence for effects of X-linked imprinted genes. In this study I demonstrate that the differences between Turner females with a maternal X and a paternal X broadly parallel the differences between males and normal females for a large suite of traits, including lipid profile and visceral fat, response to growth hormone, sensorineural hearing loss, congenital heart and kidney malformations, neuroanatomy (sizes of the cerebellum, hippocampus, caudate nuclei and superior temporal gyrus), and aspects of cognition. This pattern indicates that diverse aspects of human sex differences are mediated in part by X-linked genes, via genomic imprinting of such genes, higher rates of mosaicism in Turner females with an intact X chromosome of paternal origin, karyotypic differences between Turner females with a maternal versus paternal X chromosome, or some combination of these phenomena. Determining the relative contributions of genomic imprinting, karyotype and mosaicism to variation in Turner syndrome phenotypes has important implications for both clinical treatment of individuals with this syndrome, and hypotheses for the evolution and development of human sexual dimorphism. PMID:25567727

  20. 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.

  1. A meta-analysis of math performance in Turner syndrome

    PubMed Central

    Baker, Joseph M; Reiss, Allan L

    2015-01-01

    AIM Studies investigating the relationship between Turner syndrome and math learning disability have used a wide variation of tasks designed to test various aspects of mathematical competencies. Although these studies have revealed much about the math deficits common to Turner syndrome, their diversity makes comparisons between individual studies difficult. As a result, the consistency of outcomes among these diverse measures remains unknown. The overarching aim of this review is to provide a systematic meta-analysis of the differences in math and number performance between females with Turner syndrome and age-matched neurotypical peers. METHOD We provide a meta-analysis of behavioral performance in Turner syndrome relative to age-matched neurotypical populations on assessments of math and number aptitude. In total, 112 comparisons collected across 17 studies were included. RESULTS Although 54% of all statistical comparisons in our analyses failed to reject the null hypothesis, our results indicate that meaningful group differences exist on all comparisons except those that do not require explicit calculation. INTERPRETATION Taken together, these results help elucidate our current understanding of math and number weaknesses in Turner syndrome, while highlighting specific topics that require further investigation. PMID:26566693

  2. 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…

  3. Hyperinsulinemic Hypoglycaemia in a Turner Syndrome with Ring (X).

    PubMed

    Cappella, Michela; Graziani, Vanna; Pragliola, Antonella; Sensi, Alberto; Hussain, Khalid; Muratori, Claudia; Marchetti, Federico

    2015-01-01

    Hyperinsulinemic hypoglycaemia (HH) is a group of clinically, genetically, and morphologically heterogeneous disorders characterized by dysregulation of insulin secretion by pancreatic beta cells. HH can either be congenital genetic hyperinsulinism or associated with metabolic disorder and syndromic condition. Early identification and meticulous management of these patients is vital to prevent neurological insult. There are only three reported cases of HH associated with a mosaic, r(X) Turner syndrome. We report the four cases of an infant with a mosaic r(X) Turner genotype and HH responsive to diazoxide therapy.

  4. Recurrent Vocal Fold Paralysis and Parsonage-Turner Syndrome

    PubMed Central

    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

  5. 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…

  6. 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.…

  7. 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.…

  8. 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…

  9. 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…

  10. 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

  11. Overlap syndromes among autoimmune liver diseases.

    PubMed

    Rust, Christian; Beuers, Ulrich

    2008-06-07

    The three major immune disorders of the liver are autoimmune hepatitis (AIH), primary biliary cirrhosis (PBC) and primary sclerosing cholangitis (PSC). Variant forms of these diseases are generally called overlap syndromes, although there has been no standardised definition. Patients with overlap syndromes present with both hepatitic and cholestatic serum liver tests and have histological features of AIH and PBC or PSC. The AIH-PBC overlap syndrome is the most common form, affecting almost 10% of adults with AIH or PBC. Single cases of AIH and autoimmune cholangitis (AMA-negative PBC) overlap syndrome have also been reported. The AIH-PSC overlap syndrome is predominantly found in children, adolescents and young adults with AIH or PSC. Interestingly, transitions from one autoimmune to another have also been reported in a minority of patients, especially transitions from PBC to AIH-PBC overlap syndrome. Overlap syndromes show a progressive course towards liver cirrhosis and liver failure without treatment. Therapy for overlap syndromes is empiric, since controlled trials are not available in these rare disorders. Anticholestatic therapy with ursodeoxycholic acid is usually combined with immunosuppressive therapy with corticosteroids and/or azathioprine in both AIH-PBC and AIH-PSC overlap syndromes. In end-stage disease, liver transplantation is the treatment of choice.

  12. Cytogenetic findings in Serbian patients with Turner's syndrome stigmata.

    PubMed

    Djordjević, V A; Jovanović, J V; Pavković-Lučić, S B; Drakulić, D D; Djurović, M M; Gotić, M D

    2010-11-09

    Cytogenetic findings are reported for 31 female patients with Turner's syndrome. Chromosome studies were made from lymphocyte cultures. Non-mosaicism 45,X was demonstrated in 15 of these patients, whereas only three were apparently mosaic. Eight patients showed non-mosaic and four patients showed mosaic structural aberrations of the X-chromosome. One non-mosaic case displayed a karyotype containing a small marker chromosome. Conventional cytogenetics was supplemented by fluorescence in situ hybridization (FISH) with an X-specific probe to identify the chromosomal origin of the ring and a 1q12-specific DNA probe to identify de novo balanced translocation (1;9) in one patient. To our knowledge, this is the first finding of karyotype 45,X,t(1;9)(cen;cen)/46,X,r(X),t(1;9)(cen;cen) in Turner's syndrome. The same X-specific probe was also used to identify a derivative chromosome in one patient.

  13. Familial hypopituitarism associated with mosaic form of Turner syndrome.

    PubMed

    Lomna-Bogdanov, Elzbieta; Bolanowski, Marek; Slezak, Ryszard; Sokolska, Violetta; Pałczyiński, Bogusław; Spring, Adam; Demissie, Marek

    2005-01-01

    We present herein an unusual coincidence of familial hypopituitarism associated with a mosaic form of Turner syndrome in two adult sisters (51 and 43 years old). Both patients had hypopituitarism diagnosed in childhood. They have never been administered growth hormone, and remained short in stature. They were not given long-term estrogen-progestin treatment, despite lack of menstruation. Early in childhood both received thyroid hormone substitution. Pituitary imaging revealed pituitary hypoplasia with partial empty sella in one sister, and pituitary hypoplasia in the other. Very recently, during endocrinological evaluation, they were diagnosed with a mosaic form of Turner syndrome, additionally to their hypopituitarism. In this paper, we place special emphasis on the results of hormonal analyses and discuss the differential diagnosis.

  14. Parsonage-Turner Syndrome rather than Zoster Neuritis?

    PubMed Central

    Gariani, Karim; Magistris, Michel R.; Nendaz, Mathieu R.

    2011-01-01

    We report the case of an 86-year-old man with acute left shoulder pain, followed by left limb monoparesis and a herpetic rash on the left upper limb and thoracic region. This situation presented a diagnostic challenge because of the simultaneity of symptoms attributable to Parsonage-Turner syndrome and herpes zoster neuropathy. A detailed clinical history, physical examination and electroneuromyography were essential to distinguish the neurological structures involved and to ascertain the diagnosis. PMID:21829402

  15. Precocious puberty in a patient with mosaic Turner syndrome.

    PubMed

    Sandal, G; Pirgon, O

    2014-01-01

    Turner syndrome (TS) is one of the most common human chromosome abnormalities, occurring in approximately 1:2500 live female births. Short stature, ovarian dysgenesis and infertility are clinical hallmarks in the majority of patients with TS. The incidence of spontaneous puberty in TS is reported to be about one third. Precocious puberty in TS patients is very rare. Herein, we report precocious puberty in a case with TS.

  16. What more can be done for girls and women with Turner's syndrome and their parents?

    PubMed

    Nielsen, J

    1989-01-01

    More should be done for Turner's girls/women and their parents. There is a need for early diagnosis, provision of information to Turner's parents, girls and women, provision of a support system in the form of Turner's contact groups, relevant treatment of all Turner's related disorders and problems at the appropriate age. More information is needed, including information given by physicians and Turner's women in journals, radio and television. This has been happening in Denmark during recent years. Turner's contact groups should be available in all countries, and all Turner's girls and women and their parents should be encouraged to join such groups. More research should be undertaken concerning growth, growth stimulating treatment, oestrogen treatment and in vitro fertilization in Turner's syndrome; more social-psychological studies are also needed.

  17. 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.

  18. 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

  19. 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…

  20. 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…

  1. 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…

  2. 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

  3. 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,…

  4. An intriguing association of Turner syndrome with severe nephrotic syndrome: searching for a diagnosis.

    PubMed

    Minzala, G; Ismail, G

    2016-10-01

    Systemic lupus erythematosus (SLE) is a chronic disease caused by an aberrant autoimmune response, with a large spectrum of clinical manifestations. It strikingly affects women. Recent papers reveal that the men with Klinefelter syndrome (47, XXY) have a higher incidence of lupus than the men in the general population, similar with that of genotypic females. On the other hand, there is a great lack of information regarding the association of SLE with Turner syndrome, but it seems to be a lower risk for females with Turner to develop SLE. We present a rare association of a Turner syndrome with SLE, with negative immunology for SLE and with diagnosis made on renal biopsy. These data suggest that the presence of two X chromosomes may predispose to SLE, the ligand (CD40 ligand) for one of the genes that contributes to the pathogenesis of SLE being located on the X chromosome.

  5. Aortic dissection and Turner's syndrome: case report and review of the literature.

    PubMed

    Bordeleau, L; Cwinn, A; Turek, M; Barron-Klauninger, K; Victor, G

    1998-01-01

    Cardiovascular abnormalities are frequently encountered in patients with Turner's syndrome. These include coarctation of the aorta, aortic root dilatation, bicuspid aortic valve, atrial and ventricular septal defects. Aortic dissection is a rare but devastating complication of Turner's syndrome that usually occurs in adulthood. We report a case of Turner's syndrome with coarctation of the aorta and chronic aortic dissection, and review the relevant literature. There have been 21 prior reported cases of aortic dissection in patients with Turner's syndrome. Possible etiologic factors contributing to the occurrence of aortic dissection in this syndrome are protean. They include the presence of cystic medial necrosis, coarctation of the aorta, bicuspid aortic valve, aortic root dilatation, and hypertension, although cases of aortic dissection and Turner's syndrome have been described in patients without any risk factors. As our knowledge of the natural history of congenital heart defects and risk factors for aortic dissection in Turner's syndrome is limited, periodic cardiac evaluation of these patients may be warranted. Early recognition and treatment of this potentially lethal complication of Turner's syndrome is essential.

  6. Widespread DNA hypomethylation and differential gene expression in Turner syndrome

    PubMed Central

    Trolle, Christian; Nielsen, Morten Muhlig; Skakkebæk, Anne; Lamy, Philippe; Vang, Søren; Hedegaard, Jakob; Nordentoft, Iver; Ørntoft, Torben Falck; Pedersen, Jakob Skou; Gravholt, Claus Højbjerg

    2016-01-01

    Adults with 45,X monosomy (Turner syndrome) reflect a surviving minority since more than 99% of fetuses with 45,X monosomy die in utero. In adulthood 45,X monosomy is associated with increased morbidity and mortality, although strikingly heterogeneous with some individuals left untouched while others suffer from cardiovascular disease, autoimmune disease and infertility. The present study investigates the leukocyte DNAmethylation profile by using the 450K-Illumina Infinium assay and the leukocyte RNA-expression profile in 45,X monosomy compared with karyotypically normal female and male controls. We present results illustrating that genome wide X-chromosome RNA-expression profile, autosomal DNA-methylation profile, and the X-chromosome methylation profile clearly distinguish Turner syndrome from controls. Our results reveal genome wide hypomethylation with most differentially methylated positions showing a medium level of methylation. Contrary to previous studies, applying a single loci specific analysis at well-defined DNA loci, our results indicate that the hypomethylation extend to repetitive elements. We describe novel candidate genes that could be involved in comorbidity in TS and explain congenital urinary malformations (PRKX), premature ovarian failure (KDM6A), and aortic aneurysm formation (ZFYVE9 and TIMP1). PMID:27687697

  7. Growth curves of Egyptian patients with Turner syndrome.

    PubMed

    El-Bassyouni, Hala T; Afifi, Hanan H; Aglan, Mona S; Mahmoud, Wael M; Zaki, Moushira E

    2012-11-01

    This study analyzes the body anthropometric measurements in females with Turner syndrome (TS) not treated with recombinant human growth hormone. Height, weight, head circumference, and body mass index (BMI) data were collected from 93 patients. Their ages ranged from 6 months to 24 years (mean 10 ± 4.3 years). Chromosomal analysis revealed: 55 patients with 45,X and 38 patients with mosaic karyotypes. Patients were divided into yearly age groups. Standard growth curves were constructed for these Egyptian Turner syndrome (TS) patients. Mean and standard deviations were estimated across the age groups. When comparing the mean heights of patients to the Egyptian standards, short stature (≤2 SD) was found in 96.8% of patients older than 6 years. Patients' mean weight and BMI were higher than controls. The mean height of the studied Egyptian patients was slightly lower than that of females with TS in UK and European patients. Therefore, local reference values are more appropriate than International standards. The charts presented here can be used to optimize routine healthcare for Egyptian TS patients. The use of growth charts specific for Egyptian TS patients can help to discover early physical developmental delay and suggests the necessity of looking for concomitant diseases affecting growth.

  8. A case of Klippel-Feil and Turner syndromes.

    PubMed

    Park, Jae Hyun; Tai, Kiyoshi; Sato, Yasumori; Nishiyama, Akiyoshi; Shin, Je-Won

    2012-01-01

    The purpose of this paper was to describe the clinical case of a 12-year-old female patient with Klippel-Feil syndrome (KFS) combined with Turner syndrome (TS) and a submucous cleft palate (CP). The patient's general appearance was characterized by KFS, a clinical triad consisting of congenital fusion of at least 2 of 7 cervical vertebrae with a short neck, limited head motion, and a low posterior hairline. Three-dimensional images from cone-beam computed tomography (CBCT) revealed cervical vertebrae anomalies and submucous CP. It was reported that the patient had TS and has been administered growth hormone (GH) therapy. Due to a skeletal class III pattern with a steep mandibular plane angle, facial asymmetry, and fused cervical vertebrae, GH's effects on the craniofacial complex should be considered before orthopedic/orthodontic treatment is started.

  9. Cardiovascular phenotype in Turner syndrome--integrating cardiology, genetics, and endocrinology.

    PubMed

    Mortensen, Kristian H; Andersen, Niels H; Gravholt, Claus H

    2012-10-01

    Cardiovascular disease is emerging as a cardinal trait of Turner syndrome, being responsible for half of the 3-fold excess mortality. Turner syndrome has been proposed as an independent risk marker for cardiovascular disease that manifests as congenital heart disease, aortic dilation and dissection, valvular heart disease, hypertension, thromboembolism, myocardial infarction, and stroke. Risk stratification is unfortunately not straightforward because risk markers derived from the general population inadequately identify the subset of females with Turner syndrome who will suffer events. A high prevalence of endocrine disorders adds to the complexity, exacerbating cardiovascular prognosis. Mounting knowledge about the prevalence and interplay of cardiovascular and endocrine disease in Turner syndrome is paralleled by improved understanding of the genetics of the X-chromosome in both normal health and disease. At present in Turner syndrome, this is most advanced for the SHOX gene, which partly explains the growth deficit. This review provides an up-to-date condensation of current state-of-the-art knowledge in Turner syndrome, the main focus being cardiovascular morbidity and mortality. The aim is to provide insight into pathogenesis of Turner syndrome with perspectives to advances in the understanding of genetics of the X-chromosome. The review also incorporates important endocrine features, in order to comprehensively explain the cardiovascular phenotype and to highlight how raised attention to endocrinology and genetics is important in the identification and modification of cardiovascular risk.

  10. Rub epilepsy in an infant with Turner syndrome.

    PubMed

    Magara, Shin-Ichi; Kawashima, Hideshi; Kobayashi, Yu; Akasaka, Noriyuki; Yamazaki, Sawako; Tohyama, Jun

    2015-08-01

    We report a case of infantile refractory epilepsy associated with Turner syndrome (TS), showing very frequent, focal clonic seizures of the left upper extremity. Characteristically, in addition to spontaneous fits, her seizure was inducible by rubbing her left hand and forearm for a few seconds. Accordingly, she was diagnosed with a rare form of reflex epilepsy, "rub epilepsy". Neuroradiological investigation indicated the existence of cortical abnormalities, such as focal cortical dysplasia of the right parietal lobe. Patients with TS are reported to have neuroanatomical abnormalities, especially of the parietal lobe. Thus, our case may imply a causal relationship between potential cortical hyperexcitability of the parietal lobe and epilepsy in TS. This is the first reported infantile case of rub epilepsy, and more generally, reflex epilepsy associated with TS.

  11. [Parsonage-Turner syndrome in childhood and adolescence: case report].

    PubMed

    Pérez-de la Cruza, Sagrario

    2012-10-01

    We present the case of a 17-year-old male whose diagnosis is Parsonage-Turner syndrome relapsing in the right arm. In his medical record, he was diagnosed as having amyotrophic neuralgia of the upper limb in three previous occasions. The diagnosis was similar in all episodes, although the affected upper limb was alternating. He was treated in the Rehabilitation Services of two hospitals. At physical examination, in every relapse, he showed acute pain in both, shoulder and arm, and loss of strength in the shoulder blade and the affected upper limb. The aim of his treatment combines the healing of the pain and, together with physiotherapy, fighting against muscular atrophy. The patient evolved favourably in each of the episodes. Nowadays, he does not show any symptom, and he has been discharged from the rehabilitation service.

  12. 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.

  13. [Chronic type A aortic dissection associated with Turner syndrome; report of a case].

    PubMed

    Tanaka, Hideyuki; Kozaki, Tomofumi; Kume, Masazumi; Miyamoto, Shinji

    2014-12-01

    Aortic dissection is a critical but rare complication of Turner syndrome. This report describes a case of chronic aortic dissection in a patient with Turner syndrome. A 54-year-old woman, suffering from mild back pain for 1 month, was referred to our hospital with a diagnosis of Stanford type A chronic aortic dissection and a bicuspid aortic valve with moderate regurgitation. Computed tomography revealed aortic dissection, involving all arch branches, extending from the ascending to the abdominal aorta. The true lumen of the brachial artery was nearly obstructed by the thrombosed false lumen. Elective aortic arch repair and aortic valve replacement were successfully performed. The patient was diagnosed with 45, XO Turner syndrome after surgery. Taking aortopathy of Turner syndrome into consideration, surveillance of the residual aorta was performed. No rapidly progressive dilatation of the residual aorta was detected during the 6 years' follow-up.

  14. [Turner syndrome and monosomy 1p36 deletion syndrome misdiagnosed as thyropenia: report of one case].

    PubMed

    Meng, Xubiao; Li, Zhiming; Liu, Tingting; Wen, Zhiming

    2013-12-01

    A 21-year-old woman with a short stature presented with primary amenorrhoea and a 45X karyotype, and comparative genomic hybridization revealed 1p36 deletion and abnormal genes in multiple chromosomes to support the diagnosis of Turner syndrome and monosomy 1p36 deletion syndrome. The main clinical features of this condition include microsomia, poor sexual development, menoschesis, gigantorectum, absence of internal genitalia, sometimes with thyropenia and low intelligence. This disease can be easily diagnosed for its heterogeneous clinical manifestations.

  15. Juvenile onset narcolepsy in an individual with Turner syndrome. A case report.

    PubMed

    George, C F; Singh, S M

    1991-06-01

    We describe an 8 year old girl who presented with excessive daytime sleepiness and frequent falling. Following extensive investigations, the diagnosis of both narcolepsy and Turner Syndrome were confirmed. To our knowledge, this is the first report of these two conditions in the same individual. Both conditions are common, but the early expression of narcolepsy is unusual. Although there is a genetic basis for each, the two conditions are not necessarily related since Turner is an X-linked abnormality, while narcolepsy has an autosomal basis. Nonetheless we wonder if the hormonal balance of Turner Syndrome might have some role to play in the early expression of narcolepsy.

  16. 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.

  17. 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.

  18. Squamous cell carcinoma of the vulva in a virgin patient with Turner syndrome.

    PubMed

    Tapisiz, Omer Lutfi; Topcu, Onur; Gungor, Tayfun; Ozdal, Bulent; Sirvan, Levent; Yesilyurt, Ahmet

    2011-09-01

    Two types of gynecologic tumors are commonly described in the Turner syndrome, the first one is gonadoblastoma, which occurs in patients with Y chromosome abnormalities, and the second one is endometrial carcinoma which is mostly related with exogenous estrogen usage. Here, we describe an extremely rare case of squamous cell carcinoma of the vulva in a virgin woman with Turner syndrome. A 35-years old single, virgin woman referred to our Oncology Department with warty, necrotized, exophytic 6-7 cm vulvar mass. She had a history of primary amenorrhea and mosaic Turner syndrome was determined in her karyotype analysis. Biopsy specimen of the vulvar mass revealed squamous cell carcinoma of the vulva, and total vulvectomy with inguinal femoral lymphadenectomy was performed. The postoperative course was uneventful and there has been no recurrence of the disease up to date. Women with Turner syndrome have streak ovaries that produce very low estrogen and the squamous cell carcinoma of the vulva may have developed at an early age with Turner syndrome because of this low estrogen value similar to postmenopausal women. The current case is a special case due to its age of occurrence, virgin and Turner syndrome status.

  19. Arterial hypertension in Turner syndrome: a review of the literature and a practical approach for diagnosis and treatment.

    PubMed

    De Groote, Katya; Demulier, Laurent; De Backer, Julie; De Wolf, Daniel; De Schepper, Jean; Tʼsjoen, Guy; De Backer, Tine

    2015-07-01

    Turner syndrome is a rare chromosomal disorder with complete or partial absence of one X chromosome that only occurs in women. Clinical presentation is variable, but congenital and acquired cardiovascular diseases are frequently associated diseases that add significantly to the increased morbidity and mortality in Turner syndrome patients. Arterial hypertension is reported in 13-58% of adult Turner syndrome patients and confers an increased risk for stroke and aortic dissection. Hypertension can be present from childhood on and is reported in one-quarter of the paediatric Turner syndrome patients. This article reviews the prevalence and cause of arterial hypertension in Turner syndrome and describes the relationship between blood pressure, aortic dilation and increased cardiovascular risk. We compare current treatment strategies and also propose an integrated practical approach for the diagnosis and treatment of hypertension in Turner syndrome applicable in daily practice.

  20. Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.

    PubMed

    Bouchlariotou, Sofia; Tsikouras, Panagiotis; Dimitraki, Marina; Athanasiadis, Apostolos; Papoulidis, Ioannis; Maroulis, George; Liberis, Anastasios; Liberis, Vasileios

    2011-05-01

    Turner's syndrome is characterized by an ovarian failure which occurs in most cases before puberty and leads to infertility. In less than 10% of women with Turner syndrome, puberty may occur and spontaneous pregnancies is possible but with a high risk of fetal loss, chromosomal and congenital abnormalities. We present the case of a 33-year-old woman with a mosaic Turner's syndrome karyotype 45,X/47,XXX who conceived spontaneously and had two successful pregnancies. Short stature was the only manifestation of Turner's syndrome. In the present report, we reviewed the available literature on the fertility of women with Turner's syndrome and the phenotypic effects of mosaicism for a 47,XXX cell line in Turner's syndrome.

  1. 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

  2. The overlap syndromes of autoimmune hepatitis.

    PubMed

    Czaja, Albert J

    2013-02-01

    Autoimmune hepatitis has two major variant phenotypes in which the features of classical disease are co-mingled with those of primary biliary cirrhosis or primary sclerosing cholangitis. These overlap syndromes lack codified diagnostic criteria, established pathogenic mechanisms, and confident management strategies. Their clinical importance relates mainly to the identification of patients who respond poorly to conventional corticosteroid treatment. Scoring systems that lack discriminative power have been used in their definition, and a clinical phenotype based on pre-defined laboratory and histological findings has not been promulgated. The frequency of overlap with primary biliary cirrhosis is 7-13 %, and the frequency of overlap with primary sclerosing cholangitis is 8-17 %. Patients with autoimmune hepatitis and features of cholestatic disease must be distinguished from patients with cholestatic disease and features of autoimmune hepatitis. Variants of the overlap syndromes include patients with small duct primary sclerosing cholangitis, antimitochondrial antibody-negative primary biliary cirrhosis, autoimmune sclerosing cholangitis, and immunoglobulin G4-associated disease. Conventional corticosteroid therapy alone or in conjunction with ursodeoxycholic acid (13-15 mg/kg daily) has been variably effective, and cyclosporine, mycophenolate mofetil, and budesonide have been beneficial in selected patients. The key cholestatic features that influence the prognosis of autoimmune hepatitis must be defined and incorporated into the definition of the syndrome rather than rely on designations that imply the co-mingling of different diseases with manifestations of variable clinical relevance. The overlap syndromes in autoimmune hepatitis are imprecise, heterogeneous, and unfounded, but they constitute a clinical reality that must be accepted, diagnosed, refined, treated, and studied.

  3. Expanding the differential of shoulder pain: Parsonage-Turner syndrome.

    PubMed

    Schreiber, Adam L; Abramov, Ronnen; Fried, Guy W; Herbison, Gerald J

    2009-08-01

    A 44-year-old man was in his car when it was rear-ended in a minor motor vehicle collision, during which his right forearm contacted the steering wheel. Shortly thereafter, pain in his right shoulder developed, but initial work-up was unremarkable. His pain progressed to shoulder girdle weakness over several months and did not improve after 2.5 years. At the time of consultation, he complained of right-sided neck pain radiating to the right deltoid muscle and axilla as well as right shoulder blade pain with shoulder girdle weakness. Repeated electrodiagnostic studies revealed denervation limited to the serratus anterior and right deltoid muscles without evidence of cervical radiculopathy. He was diagnosed with Parsonage-Turner syndrome, which is a neurologic condition characterized by acute onset of shoulder and arm pain followed by weakness and sensory disturbance. The authors review patient presentation, physical examination, and work-up needed for diagnosis of this syndrome to help physicians avoid administering unnecessary tests and treatment.

  4. A Case of Turner Syndrome with Multiple Embolic Infarcts

    PubMed Central

    Yoon, Cindy W.; Lee, Eungseok; Yoon, Byung-Nam; Park, Hee-Kwon; Rha, Joung-Ho

    2016-01-01

    Only a few cases of Turner syndrome (TS) with ischemic stroke have been reported. Various arteriopathies of the cerebral arteries, including fibromuscular dysplasia, congenital hypoplasia, moyamoya syndrome, and premature atherosclerosis have been assumed to be the cause of ischemic stroke in TS. There has been no case report of a TS patient presenting with an embolic stroke pattern without any cerebral arteriopathy. A 28-year-old woman with TS was referred to our hospital because of abnormal brain magnetic resonance imaging (MRI) findings. She underwent brain MRI at the referring hospital because she experienced sudden-onset diffuse headache. Diffusion-weighted imaging revealed multiple acute embolic infarcts in different vascular territories. Intracranial and extracranial arterial disease was not detected on cerebral magnetic resonance angiography and carotid sonography. Embolic source workups, including transthoracic and transesophageal echocardiography, Holter monitoring, and transcranial Doppler shunt study, were all negative. Hypercoagulability and vasculitis panels were also negative. Our patient was diagnosed with cryptogenic embolic stroke. This is the first report of a TS patient with an embolic stroke pattern. Our case shows that ischemic stroke in TS could be due to embolism as well as the various cerebral arteriopathies documented in previous reports. PMID:27790125

  5. A Case of Turner Syndrome with Multiple Embolic Infarcts.

    PubMed

    Yoon, Cindy W; Lee, Eungseok; Yoon, Byung-Nam; Park, Hee-Kwon; Rha, Joung-Ho

    2016-01-01

    Only a few cases of Turner syndrome (TS) with ischemic stroke have been reported. Various arteriopathies of the cerebral arteries, including fibromuscular dysplasia, congenital hypoplasia, moyamoya syndrome, and premature atherosclerosis have been assumed to be the cause of ischemic stroke in TS. There has been no case report of a TS patient presenting with an embolic stroke pattern without any cerebral arteriopathy. A 28-year-old woman with TS was referred to our hospital because of abnormal brain magnetic resonance imaging (MRI) findings. She underwent brain MRI at the referring hospital because she experienced sudden-onset diffuse headache. Diffusion-weighted imaging revealed multiple acute embolic infarcts in different vascular territories. Intracranial and extracranial arterial disease was not detected on cerebral magnetic resonance angiography and carotid sonography. Embolic source workups, including transthoracic and transesophageal echocardiography, Holter monitoring, and transcranial Doppler shunt study, were all negative. Hypercoagulability and vasculitis panels were also negative. Our patient was diagnosed with cryptogenic embolic stroke. This is the first report of a TS patient with an embolic stroke pattern. Our case shows that ischemic stroke in TS could be due to embolism as well as the various cerebral arteriopathies documented in previous reports.

  6. 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…

  7. Imaging of autoimmune hepatitis and overlap syndromes.

    PubMed

    Malik, Neera; Venkatesh, Sudhakar K

    2017-01-01

    Autoimmune hepatitis (AIH) is an uncommon, chronic inflammatory, and relapsing liver disease of unknown origin that may lead to liver cirrhosis, hepatocellular carcinoma, liver transplantation, or death. AIH occurs in all age groups and races but can frequently manifest as acute fulminant hepatitis. Clinical presentation of AIH can have features similar to primary sclerosing cholangitis (PSC) and primary biliary cirrhosis (PBC), and these diseases may coexist leading to overlap syndromes. Although histological diagnosis is necessary, imaging features often can demonstrate characteristics that may be helpful to distinguish these diseases. Imaging features of AIH are those of chronic liver disease, and imaging plays important role in detection of complications and ruling out other possible causes of chronic liver disease. Emerging techniques such as elastography provide non-invasive options for diagnosis of significant fibrosis and cirrhosis during clinical follow-up as well as assessment of response to treatment. In this study, we will describe imaging findings in AIH and overlap syndromes.

  8. Risk of Gonadoblastoma Development in Patients with Turner Syndrome with Cryptic Y Chromosome Material.

    PubMed

    Kwon, Ahreum; Hyun, Sei Eun; Jung, Mo Kyung; Chae, Hyun Wook; Lee, Woo Jung; Kim, Tae Hyuk; Kim, Duk Hee; Kim, Ho-Seong

    2017-03-27

    Current guidelines recommend that testing for Y chromosome material should be performed only in patients with Turner syndrome harboring a marker chromosome and exhibiting virilization in order to detect individuals who are at high risk of gonadoblastoma. However, cryptic Y chromosome material is suggested to be a risk factor for gonadoblastoma in patients with Turner syndrome. Here, we aimed to estimate the frequency of cryptic Y chromosome material in patients with Turner syndrome and determine whether Y chromosome material increased the risk for development of gonadoblastoma. A total of 124 patients who were diagnosed with Turner syndrome by conventional cytogenetic techniques underwent additional molecular analysis to detect cryptic Y chromosome material. In addition, patients with Turner syndrome harboring Y chromosome cell lines had their ovaries removed prophylactically. Finally, we assessed the occurrence of gonadoblastoma in patients with Turner syndrome. Molecular analysis demonstrated that 10 patients had Y chromosome material among 118 patients without overt Y chromosome (8.5%). Six patients with overt Y chromosome and four patients with cryptic Y chromosome material underwent oophorectomy. Histopathological analysis revealed that the occurrence of gonadoblastoma in the total group was 2.4%, and gonadoblastoma occurred in one of six patients with an overt Y chromosome (16.7%) and 2 of 10 patients with cryptic Y chromosome material (20.0%). The risk of developing gonadoblastoma in patients with cryptic Y chromosome material was similar to that in patients with overt Y chromosome. Therefore, molecular screening for Y chromosome material should be recommended for all patients with Turner syndrome to detect individuals at a high risk of gonadoblastoma and to facilitate proper management of the disease.

  9. Feasibility of fertility preservation in young females with Turner syndrome.

    PubMed

    Lau, Nga Man; Huang, Jack Yu Jen; MacDonald, Suzanne; Elizur, Shai; Gidoni, Yariv; Holzer, Hananel; Chian, Ri-Cheng; Tulandi, Togas; Tan, Seang Lin

    2009-02-01

    Women with Turner syndrome (TS) are at risk of premature ovarian failure. The objective of this retrospective study was to identify patients with TS who could be potential candidates for fertility preservation and to determine their present reproductive and fertility status. Criteria for fertility preservation included: (i) spontaneous menarche; (ii) confirmation by ultrasound examination of the presence of at least one normal ovary; and (iii) serum FSH concentrations below 40 IU/l. Using the Montreal Children's Hospital Cytogenetic Database from 1990 to 2006, 28 patients with complete or partial absence of one X chromosome were identified: 13 (46%) were 45,X; nine (32%) had mosaic karyotypes; and six (21%) had karyotypes containing isochromosome or ring X chromosome. Six patients (21%) had spontaneous pubertal development and four (14%) were identified as potential candidates for fertility preservation. One underwent an ovarian stimulation protocol of gonadotrophin-releasing hormone agonist down-regulation followed by recombinant FSH and human menopausal gonadotrophin stimulation. Two metaphase-II-stage oocytes were aspirated and vitrified using the McGill Cryoleaf vitrification system. Another patient conceived spontaneously at the age of 24 years. In conclusion, fertility preservation may not be feasible for most patients with TS. However, after careful consideration of increased pregnancy-associated risks, fertility preservation may be offered to young females with mosaic TS.

  10. Concomitant occurrence of Turner syndrome and growth hormone deficiency.

    PubMed

    Yu, Jung; Shin, Ha Young; Lee, Chong Guk; Kim, Jae Hyun

    2016-11-01

    Turner syndrome (TS) is a genetic disorder in phenotypic females that has characteristic physical features and presents as partial or complete absence of the second sex chromosome. Growth hormone deficiency (GHD) is a condition caused by insufficient release of growth hormone from the pituitary gland. The concomitant occurrence of TS and GHD is rare and has not yet been reported in Korea. Here we report 2 cases of TS and GHD. In case 1, GHD was initially diagnosed. Karyotyping was performed because of the presence of the typical phenotype and poor response to growth hormone therapy, which revealed 45,X/45,X+mar. The patient showed increased growth velocity after the growth hormone dose was increased. In case 2, a growth hormone provocation test and chromosomal analysis were performed simultaneously because of decreased growth velocity and the typical TS phenotype, which showed GHD and a mosaic karyotype of 45,X/46,XX. The patient showed spontaneous pubertal development. In female patients with short stature, it is important to perform a throughout physical examination and test for hormonal and chromosomal abnormalities because diagnostic accuracy is important for treatment and prognosis.

  11. 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

  12. Concomitant occurrence of Turner syndrome and growth hormone deficiency

    PubMed Central

    Yu, Jung; Shin, Ha Young; Lee, Chong Guk

    2016-01-01

    Turner syndrome (TS) is a genetic disorder in phenotypic females that has characteristic physical features and presents as partial or complete absence of the second sex chromosome. Growth hormone deficiency (GHD) is a condition caused by insufficient release of growth hormone from the pituitary gland. The concomitant occurrence of TS and GHD is rare and has not yet been reported in Korea. Here we report 2 cases of TS and GHD. In case 1, GHD was initially diagnosed. Karyotyping was performed because of the presence of the typical phenotype and poor response to growth hormone therapy, which revealed 45,X/45,X+mar. The patient showed increased growth velocity after the growth hormone dose was increased. In case 2, a growth hormone provocation test and chromosomal analysis were performed simultaneously because of decreased growth velocity and the typical TS phenotype, which showed GHD and a mosaic karyotype of 45,X/46,XX. The patient showed spontaneous pubertal development. In female patients with short stature, it is important to perform a throughout physical examination and test for hormonal and chromosomal abnormalities because diagnostic accuracy is important for treatment and prognosis. PMID:28018463

  13. [Down-Turner syndrome (45,X/47,XY,+21): case report and review].

    PubMed

    Ryu, Sook Won; Lee, Goeun; Baik, Cheong Soon; Shim, Sung Han; Kim, Jin Tack; Lee, Jung Soo; Lee, Kyung A

    2010-04-01

    We report the case of a 3-yr-old boy with Down-Turner mosaicism and review the previous reports of Down-Turner syndrome with documented karyotyping and clinical features. The patient showed clinical features of Down syndrome without significant stigma of Turner syndrome. Cytogenetic analysis of peripheral blood preparations by using G-banding revealed mosaicism with 2 cell lines (45,X[29]/47,XY,+21[4]). FISH analysis revealed that 87.5% of the cells had monosomy X karyotype and 12.5% of the cells had XY karyotype; trisomy 21 was only detected in the Y-positive cells. We suggest that additional cells should be analyzed and molecular genetic studies should be conducted to rule out double aneuploidy when karyotypes with sex chromosome aneuploidies and mosaicism are encountered, as in our case of Down syndrome mosaic with sex chromosome aneuploidy.

  14. Gonadal dysgenesis, Turner syndrome with 46,XX,del(18p)3

    SciTech Connect

    Telvi, L.; Ion, R.; Bernheim, A.

    1994-09-01

    The authors report a case of a female infant with gonadal dysgenesis, clinical features of Turner syndrome and a de novo del(18p). The factors controlling gonadal dysgenesis and Turner syndrome are unknown to date. The genes involved could be located not only on X chromosome but also on autosomes. The present case suggests that one of these genes is situated on the short arm of chromosome 18. We conclude that patients with del(18p) syndrome should be evaluated for gonadal dysgenesis.

  15. [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.

  16. Evaluation of cardiovascular anomalies in patients with asymptomatic turner syndrome using multidetector computed tomography.

    PubMed

    Lee, Sun Hee; Jung, Ji Mi; Song, Min Seob; Choi, Seok jin; Chung, Woo Yeong

    2013-08-01

    Turner syndrome is well known to be associated with significant cardiovascular abnormalities. This paper studied the incidence of cardiovascular abnormalities in asymptomatic adolescent patients with Turner syndrome using multidetector computed tomography (MDCT) instead of echocardiography. Twenty subjects diagnosed with Turner syndrome who had no cardiac symptoms were included. Blood pressure and electrocardiography (ECG) was checked. Cardiovascular abnormalities were checked by MDCT. According to the ECG results, 11 had a prolonged QTc interval, 5 had a posterior fascicular block, 3 had a ventricular conduction disorder. MDCT revealed vascular abnormalities in 13 patients (65%). Three patients had an aberrant right subclavian artery, 2 had dilatation of left subclavian artery, and others had an aortic root dilatation, aortic diverticulum, and abnormal left vertebral artery. As for venous abnormalities, 3 patients had partial anomalous pulmonary venous return and 2 had a persistent left superior vena cava. This study found cardiovascular abnormalities in 65% of asymptomatic Turner syndrome patients using MDCT. Even though, there are no cardiac symptoms in Turner syndrome patients, a complete evaluation of the heart with echocardiography or MDCT at transition period to adults must be performed.

  17. Empathy, autistic traits, and motor resonance in adults with Turner syndrome.

    PubMed

    Lepage, Jean-François; Lortie, Mélissa; Deal, Cheri L; Théoret, Hugo

    2014-01-01

    Turner syndrome is a genetic condition resulting from the partial or complete absence of an X-chromosome in phenotypic females. Individuals with Turner syndrome often display social difficulties that are reminiscent of those associated with autistic spectrum disorders (ASD), conditions associated with empathy and mirror-neuron system (MNS) deficits. The goal of the present study was (1) to investigate the extent to which adults with Turner syndrome display autistic and empathic traits, and (2) to probe the integrity of the MNS in this neurogenetic disorder. Sixteen individuals with Turner syndrome and 16 age-, sex-, and IQ-matched controls took part in a neuropsychological assessment where the Weschler Abbreviated Scale of Intelligence, the Autism Spectrum Quotient and the Empathy Quotient were administered. Functioning of the MNS was assessed by measuring motor cortex activity with transcranial magnetic stimulation during an action-observation task. Results show that individuals with Turner syndrome do not differ significantly from controls regarding autistic or empathic traits, and present normal functioning of the MNS during action observation. Correlational analysis showed a significant positive relationship between scores on the Empathy Quotient and motor facilitation during action observation, bringing further support to the hypothesis that MNS activity is related to sociocognitive competence.

  18. 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.

  19. 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…

  20. Moyamoya disease associated with asymptomatic mosaic Turner syndrome: a rare cause of hemorrhagic stroke.

    PubMed

    Manjila, Sunil; Miller, Benjamin R; Rao-Frisch, Anitha; Otvos, Balint; Mitchell, Anna; Bambakidis, Nicholas C; De Georgia, Michael A

    2014-01-01

    Moyamoya disease is a rare cerebrovascular anomaly involving the intracranial carotid arteries that can present clinically with either ischemic or hemorrhagic disease. Moyamoya syndrome, indistinguishable from moyamoya disease at presentation, is associated with multiple clinical conditions including neurofibromatosis type 1, autoimmune disease, prior radiation therapy, Down syndrome, and Turner syndrome. We present the first reported case of an adult patient with previously unrecognized mosaic Turner syndrome with acute subarachnoid and intracerebral hemorrhage as the initial manifestation of moyamoya syndrome. A 52-year-old woman was admitted with a subarachnoid hemorrhage with associated flame-shaped intracerebral hemorrhage in the left frontal lobe. Physical examination revealed short stature, pectus excavatum, small fingers, micrognathia, and mild facial dysmorphism. Cerebral angiography showed features consistent with bilateral moyamoya disease, aberrant intrathoracic vessels, and an unruptured 4-mm right superior hypophyseal aneurysm. Genetic analysis confirmed a diagnosis of mosaic Turner syndrome. Our case report is the first documented presentation of adult moyamoya syndrome with subarachnoid and intracerebral hemorrhage as the initial presentation of mosaic Turner syndrome. It illustrates the utility of genetic evaluation in patients with cerebrovascular disease and dysmorphism.

  1. Management of Klippel-Feil syndrome combined with Turner syndrome: a case report.

    PubMed

    Park, Jae Hyun; Tai, Kiyoshi; Sato, Yasumori

    2013-01-01

    A 12-year-old female with Klippel-Feil syndrome (KFS) combined with Turner syndrome (TS) and a submucous cleft palate (CP) was presented. The patient reportedly had TS and had received growth hormone (GH) therapy. Because of her skeletal Class III pattern with a steep mandibular plane angle, facial asymmetry, and fused cervical vertebrae, the effects of the GH on her craniofacial complex needed to be considered at the start of orthopedic/orthodontic treatment. To manage submucous CP with severe maxillary deficiency, a rigid external distraction (RED) device was used. The total active treatment time was 34 months including distraction osteogenesis (DO). Treatment improved both her occlusion and facial appearance.

  2. 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…

  3. Pregnancies at a late reproductive age in a patient with Turner's syndrome: case report and review of the literature.

    PubMed

    Kulkarni, Aparna; Wardle, Peter

    2006-01-01

    Women with Turner's syndrome are usually sterile. It is unusual for women with Turner's syndrome to give birth after the age of 34 and those who proceed with pregnancy are at a higher risk of having spontaneous miscarriage and chromosomally malformed children necessitating genetic counselling.

  4. 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

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

    PubMed

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

    2015-12-01

    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.

  6. Turner's syndrome and cardiovascular anomalies: a case report and review of the literature.

    PubMed

    Subramaniam, P N

    1989-04-01

    Turner's syndrome is a genetic disease in which many cardiovascular anomalies have been reported, coarctation of the aorta being the most frequent. The most serious complication that can arise from these abnormalities is aortic dissection. The authors present an unusual case of Turner's syndrome with an aortic sinus aneurysm and severe aortic insufficiency in the absence of coarctation of the aorta. The various cardiovascular anomalies seen in Turner's syndrome, such as coarctation of the aorta, bicuspid aortic valve, aortic dissection, aortic sinus aneurysm and ascending aorta aneurysm, can best be understood on a common basis of congenital structural abnormalities involving the aorta and the aortic valve. The only evidence available for such an abnormality is the presence of cystic medial necrosis in the affected vascular tissues.

  7. Male patient with non-mosaic deleted Y-chromosome and clinical features of Turner syndrome.

    PubMed

    Graham, B H; Bacino, C A

    2003-06-01

    Turner syndrome is hypothesized to result from haplo-insufficiency of a gene or perhaps multiple genes present on the sex chromosomes; however, the frequent association of mosaicism with deletions of the sex chromosomes prevents establishing useful genotype/phenotype correlations. In this clinical report, we present a male with a de novo, non-mosaic deletion of the Y-chromosome. The phenotype of this patient is unlike any similar cases previously reported in the literature. This patient exhibits many classical clinical features of Turner syndrome including short stature, characteristic facial anomalies, and webbed neck with low posterior hairline, aortic valve abnormality, and hearing impairment. Detailed molecular characterization of this deleted Y-chromosome could provide important information towards establishing genotype/phenotype correlations in Turner syndrome.

  8. Gonadoblastoma in patients with Ullrich-Turner syndrome.

    PubMed

    Zelaya, Gabriela; López Marti, Jessica M; Marino, Roxana; Garcia de Dávila, Maria T; Gallego, Marta S

    2015-01-01

    Ullrich-Turner syndrome (UTS) is a common chromosomal abnormality caused by partial or complete X chromosome monosomy. One half of the patients have a 45,X karyotype, whereas the remaining patients display other X chromosome anomalies. In 6% to 11% of UTS, a normal or partly deleted Y chromosome has been found. A 10% to 30% risk of developing gonadoblastoma was found in the latter patients. The aim of this study was to evaluate the prevalence of Y chromosome-derived material, the occurrence of gonadoblastoma, and the incidence of possible neoplasms in patients with UTS. Of 217 patients studied with UTS and chromosome analysis of peripheral-blood lymphocytes, Y chromosome material was found in 20 patients. Fluorescence in situ hybridization (FISH) testing was performed to characterize the structurally abnormal Y chromosome in 13 cases. Molecular analysis of the SRY gene could only be performed in 20 patients with 45,X karyotype. Two patients had the SRY genomes. Of the 20 patients with Y chromosome-derived material, 17 underwent gonadectomy. The incidence of gonadoblastoma development in our series was 35.5%. Furthermore, 1 patient also showed a pure dysgerminoma, and another showed a mixed dysgerminoma and embryonal carcinoma. We emphasize the importance of complete processing of the gonadectomy specimen, including step sections, molecular studies, and FISH, in addition to the classic cytogenetic searching for Y chromosome sequences, in patients who present with a nonmosaic 45,X karyotype. Finally, we propose to routinely collect a sample for storage in the tumor bank for future studies.

  9. 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.

  10. 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.

  11. Hypogonadism and Sex Steroid Replacement Therapy in Girls with Turner Syndrome.

    PubMed

    Gawlik, Aneta; Hankus, Magdalena; Such, Kamila; Drosdzol-Cop, Agnieszka; Madej, Paweł; Borkowska, Marzena; Zachurzok, Agnieszka; Malecka-Tendera, Ewa

    2016-12-01

    Turner syndrome is the most common example of hypergonadotropic hypogonadism resulting from gonadal dysgenesis. Most patients present delayed, or even absent, puberty. Premature ovarian failure can be expected even if spontaneous menarche occurs. Laboratory markers of gonadal dysgenesis are well known. The choice of optimal hormone replacement therapy in children and adolescents remains controversial, particularly regarding the age at which therapy should be initiated, and the dose and route of estrogen administration. On the basis of a review of the literature, we present the most acceptable schedule of sex steroid replacement therapy in younger patients with Turner syndrome.

  12. A case of Turner syndrome (46XXp-/45X) complicated with Crohn's disease after hormone therapy.

    PubMed

    Ihara, Yutaro; Hizawa, Kazuoki; Fujita, Kouhei; Iida, Masahiro; Washio, Ema; Kai, Takahiro; Nitahata, Tomoki; Esaki, Motohiro; Iida, Mitsuo

    2017-01-01

    A 19-year-old woman, who had been receiving hormone replacement therapy for 13 months before the diagnosis of mosaic Turner syndrome (46XXp-/45X), developed Crohn's colitis and erythema nodosum of the lower legs. Colonoscopy revealed an anal fistula and the presence of deep longitudinal ulcers with cobblestoning in the colorectum. Therapy with prednisolone and adalimumab was effective for the intestinal and skin lesions. To date, all seven case reports of Turner syndrome in Japan have also developed Crohn's disease after hormone therapy, suggesting a possible association of sex hormones in the pathogenesis.

  13. Turner Syndrome and apparent absent uterus: a case report and review of the literature.

    PubMed

    Akierman, Sarah V; Skappak, Christopher D; Girgis, Rose; Ho, Josephine

    2013-01-01

    We report on a patient who initially presented with delayed puberty and an absent uterus on imaging with ultrasound and MRI. She was subsequently diagnosed with Turner Syndrome. Turner Syndrome typically presents with early loss of ovarian function and should be considered when primary ovarian insufficiency is present with apparent absent uterus on imaging. Follow-up imaging of the apparent absent uterus post-estrogen replacement therapy is important to confirm a normal uterus. A diagnosis of an absent uterus can be psychologically traumatic for patients and families, and can have significant implications for future fertility options.

  14. [Syndrome overlap: autoimmune hepatitis and autoimmune cholangitis].

    PubMed

    Guerra Montero, Luis; Ortega Alvarez, Félix; Marquez Teves, Maguin; Asato Higa, Carmen; Sumire Umeres, Julia

    2016-01-01

    Autoimmune hepatitis, primary biliary cirrhosis, primary sclerosing cholangitis and autoimmune cholangitis are chronic autoimmune liver disease, usually present separate, the cases where characteristics of two of the above is observed liver disease is commonly referred to as Overlap Syndromes (OS). Although there is no consensus on specific criteria for the diagnosis of OS identification of this association is important for initiating appropriate treatment and prevent its progression to cirrhosis or at least the complications of cirrhosis and death. We report the case of awoman aged 22 cirrhotic which debuted are edematous ascites, severe asthenia and jaundice compliant diagnostics SS criteria and initially present any response to treatment with ursodeoxycholic acid and oral corticosteroids, but ultimately finished performing a transplant orthotopic liver.

  15. Heterogeneity of asthma–COPD overlap syndrome

    PubMed Central

    Joo, Hyonsoo; Han, Deokjae; Lee, Jae Ha; Rhee, Chin Kook

    2017-01-01

    Many patients suffering from asthma or COPD have overlapping features of both diseases. However, a phenotypical approach for evaluating asthma–COPD overlap syndrome (ACOS) has not been established. In this report, we examined the phenotypes in patients with ACOS. Patients diagnosed with ACOS between 2011 and 2015 were identified and classified into four phenotype groups. Group A was composed of patients who smoked <10 pack years and had blood eosinophil counts ≥300. Group B was composed of patients who smoked <10 pack years and had blood eosinophil counts <300. Group C was composed of patients who smoked ≥10 pack years and had blood eosinophil counts ≥300. Group D was composed of patients who smoked <10 pack years and had blood eosinophil counts <300. Clinical characteristics were analyzed and compared among groups. Comparisons were made among 103 ACOS patients. Patients in group D were oldest, while patients in group A were youngest. There were relatively more female patients in groups A and B; the majority of patients in groups C and D were male. The degree of airflow obstruction was most severe in group C. The rate of being free of severe exacerbation was significantly lower in group C than in the other groups. In this study, each ACOS phenotype showed different characteristics. The proportion of patients free of severe exacerbation differed significantly among groups. At this time, further studies on the phenotypes of ACOS are required. PMID:28260876

  16. Metabolic syndrome and polycystic ovary syndrome: an intriguing overlapping.

    PubMed

    Caserta, Donatella; Adducchio, Gloria; Picchia, Simona; Ralli, Eleonora; Matteucci, Eleonora; Moscarini, Massimo

    2014-06-01

    Metabolic syndrome is an increasing pathology in adults and in children, due to a parallel rise of obesity. Sedentary lifestyle, food habits, cultural influences and also a genetic predisposition can cause dyslipidemia, hypertension, abdominal obesity and insulin resistance which are the two main features of metabolic syndrome. Polycystic ovary syndrome (PCOS) is a condition directly associated with obesity, insulin resistance (HOMA index) and metabolic syndrome, and it is very interesting for its relationship and overlap with the metabolic syndrome. The relationship between the two syndromes is mutual: PCOS women have a higher prevalence of metabolic syndrome and also women with metabolic syndrome commonly present the reproductive/endocrine trait of PCOS. Prevention and treatment of metabolic syndrome and PCOS are similar for various aspects. It is necessary to treat excess adiposity and insulin resistance, with the overall goals of preventing cardiovascular disease and type 2 diabetes and improving reproductive failure in young women with PCOS. First of all, lifestyle changes, then pharmacological therapy, bariatric surgery and laparoscopic ovarian surgery represent the pillars for PCOS treatment.

  17. 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…

  18. 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…

  19. 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…

  20. Unicuspid Aortic Stenosis in a Patient with Turner Syndrome: A Case Report.

    PubMed

    Essandoh, Michael; Castellon-Larios, Karina; Zuleta-Alarcon, Alix; Portillo, Juan Guillermo; Crestanello, Juan A

    2014-01-01

    Congenital aortic valve anomalies are the cause of premature aortic stenosis in pediatric and younger adult populations. Despite being very rare, unicuspid aortic valves account for approximately 5% of isolated aortic valve replacements. Patients with aortic stenosis, present with the same symptomatology independent of leaflet morphology. However, the presence of bicuspid and unicuspid aortic stenosis is associated with a higher incidence of aortopathy, especially in Turner syndrome patients. Turner syndrome, an X monosomy, is associated with aortic valve anomalies, aortopathy, and hypertension. These risk factors lead to a higher incidence of aortic dissection in this population. Patients with Turner syndrome and aortic stenosis that present for aortic valve replacement should therefore undergo extensive aortic imaging prior to surgery. Transthoracic echocardiography is the diagnostic tool of choice for valvular pathology, yet it can misdiagnose unicuspid aortic valves as bicuspid valves due to certain similarities on imaging. Transesophageal echocardiography is a better tool for distinguishing between the two valvular abnormalities, although diagnostic errors can still occur. We present a case of a 50-year-old female with history of Turner syndrome and bicuspid aortic stenosis presenting for aortic valve replacement and ascending aorta replacement. Intraoperative transesophageal echocardiography revealed a stenotic unicommissural unicuspid aortic valve with an eccentric orifice, which was missed on preoperative imaging. This case highlights the importance of intraoperative transesophageal echocardiography in confirming preoperative findings, diagnosing further cardiac pathology, and ensuring adequate surgical repair.

  1. 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)

  2. Parsonage-Turner syndrome associated with anti-bovine viral diarrhoea virus antibodies.

    PubMed

    Giangaspero, M; Cominardi, P F

    2006-01-01

    The Parsonage-Turner syndrome, a rare form of neuralgic amyotrophy of unknown aetiology, was diagnosed in a patient involved in an outbreak of bovine viral diarrhoea virus (BVDV). The patient, suffering from inflammation of the right shoulder with a permanent atrophy, developed anti-BVDV antibody titres which remained very high during the four following years of monitoring.

  3. Effect of oxandrolone therapy on adult height in Turner syndrome patients treated with growth hormone: a meta-analysis.

    PubMed

    Sheanon, Nicole M; Backeljauw, Philippe F

    2015-01-01

    Turner syndrome is a chromosomal abnormality in which there is complete or partial absence of the X chromosome. Turner syndrome effects 1 in every 2000 live births. Short stature is a cardinal feature of Turner Syndrome and the standard treatment is recombinant human growth hormone. When growth hormone is started at an early age a normal adult height can be achieved. With delayed diagnosis young women with Turner Syndrome may not reach a normal height. Adjuvant therapy with oxandrolone is used but there is no consensus on the optimal timing of treatment, the duration of treatment and the long term adverse effects of treatment. The objective of this review and meta-analysis is to examine the effect of oxandrolone on adult height in growth hormone treated Turner syndrome patients. Eligible trials were identified by a literature search using the terms: Turner syndrome, oxandrolone. The search was limited to English language randomized-controlled trials after 1980. Twenty-six articles were reviewed and four were included in the meta-analysis. A random effects model was used to calculate an effect size and confidence interval. The pooled effect size of 2.0759 (95 % CI 0.0988 to 4.0529) indicates that oxandrolone has a positive effect on adult height in Turner syndrome when combined with growth hormone therapy. In conclusion, the addition of oxandrolone to growth hormone therapy for treatment of short stature in Turner syndrome improves adult height. Further studies are warranted to investigate if there is a subset of Turner syndrome patients that would benefit most from growth hormone plus oxandrolone therapy, and to determine the optimal timing and duration of such therapy.

  4. Successful advanced maternal age pregnancy with mosaic turner syndrome conceived after ovulation induction with clomiphene citrate: a case report.

    PubMed

    Murakami, Masahiro; Hinokio, Kenji; Kiyokawa, Machiko; Morine, Mikio; Iwasa, Takeshi

    2014-01-01

    Turner women typically experience gonadal dysfunction that results in amenorrhea and sterility. We encountered a case of mosaic Turner syndrome where conception was possible after ovulation induction with clomiphene citrate (CC). The patient's ovaries were overresponsive to induction with CC. The challenges and successful outcome are reported.

  5. Familial Turner syndrome with an X;Y translocation mosaicism: implications for genetic counseling.

    PubMed

    Portnoï, Marie-France; Chantot-Bastaraud, Sandra; Christin-Maitre, Sophie; Carbonne, Bruno; Beaujard, Marie-Paule; Keren, Boris; Lévy, Jonathan; Dommergues, Marc; Cabrol, Sylvie; Hyon, Capucine; Siffroi, Jean-Pierre

    2012-11-01

    Spontaneous fertility is rare among patients with Turner syndrome and is most likely in women with mosaicism for a normal 46,XX cell line. We report an unusual case of familial Turner syndrome with mosaicism for a novel X;Y translocation involving Xp and Yp. The chromosomal analysis was carried out through cytogenetics and molecular karyotyping using a SNP array platform. The mother, a Turner syndrome woman, diagnosed in midchildhood because of short stature, was found to have a 45,X/46,X,der(X)t(X;Y)(p11.4;p11.2) karyotype, with a predominant 45,X cell line. Her parents decided against prophylactic gonadectomy, generally recommended at an early age when Y chromosome has been identified, because at age 13, she had spontaneous puberty and menarche. She reached a final height of 154 cm after treatment with growth hormone. At age 24, she became spontaneously pregnant. She had a mild aortic coarctation and close follow-up cardiac evaluation, including cardiac magnetic resonance imaging, had been performed during her pregnancy, which progressed uneventfully, except for intra-uterine growth retardation. Prenatal diagnosis revealed a female karyotype, with transmission of the maternal translocation with an unexpected different mosaic:47,X,der(X)t(X;Y)x2/46,X,der(X)t(X;Y) karyotype. This complex and unusual karyotype, including a mosaic partial trisomy X and a non-mosaic Xpter-Xp11.4 monosomy, results in transmission of Turner syndrome from mother to daughter. At birth, the girl had normal physical examination except for growth retardation. This family illustrates the complexity and difficulties, in term of patient counseling and management in Turner syndrome, in determining ovarian status, fertility planning, risks associated with pregnancies, particularly when mosaicism for Y material chromosome is identified.

  6. Y chromosome mosaicism and occurrence of gonadoblastoma in cases of Turner syndrome and amenorrhoea.

    PubMed

    Modi, Deepak; Bhartiya, Deepa

    2007-11-01

    In the present study, 73 cases with a clinical diagnosis of Turner syndrome, or with primary or secondary amenorrhoea without frank Turner phenotype, were evaluated for presence of low level Y chromosome mosaicism using molecular methods. Fluorescence in-situ hybridization for centromere and q arm of the Y chromosome and nested polymerase chain reaction for the sex determining region on Y (SRY) gene were performed in peripheral blood, buccal cells and gonadal biopsies. The overall frequency of Y chromosome mosaicism was found to be 18% (13/73 cases). Four cases (16%) of Turner syndrome had Y chromosome mosaicism, seven cases (28%) with primary amenorrhoea and two cases (9%) with secondary amenorrhoea had Y chromosome mosaicism. Histologically detectable gonadoblastoma was observed in one of seven cases (14%) that had Y chromosome mosaicism. This frequency is lower than that reported previously, underscoring the need for large prospective investigations to determine the frequency of Y chromosome mosaicism and occurrence of gonadoblastoma in cases of Turner syndrome and other forms of amenorrhoea.

  7. 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.

  8. Brachial neuritis or Parsonage-Turner syndrome: A problem of liability. A presentation of 3 cases.

    PubMed

    Rodríguez-Hornillo, M; de la Riva, M C; Ojeda, R

    2016-01-01

    Neuralgic amyotrophy, brachial neuritis or Parsonage-Turner syndrome is a rare neuromuscular involvement of unknown aetiology. When it onsets in connection with a health care act, such as childbirth or surgery, a malpractice argument is often used as a cause of adverse outcome, usually due to an incorrect position of the patient on the operating table, a circumstance which directly involves the anesthesia area. Three cases are presented of Parsonage-Turner syndrome following very different surgery, with different results as regards prognosis. A review and discussion of bibliography is presented on the possibility that such circumstances are the subject of malpractice claims. Special emphasis is placed on the most currently accepted aetiopathogenic theories, and the relationship of this syndrome with the surgical act as a determining medico-legal aspect. Valuation parameters are proposed.

  9. False aneurysm on distal part of coarctation of the aorta in a parous Turner syndrome patient.

    PubMed

    Oi, Keiji; Yoshida, Tetsuya; Takeshita, Masashi; Tsuruta, Goro

    2013-09-01

    False aneurysm associated with untreated coarctation of the aorta (CoA) is an uncommon vascular complication. We present a 41-year-old woman with mosaic Turner syndrome who had CoA complicated with a small false aneurysm on descending aorta just distal to the coarctation. The patient had not been diagnosed with Turner syndrome despite several physical characteristics of the syndrome because she had histories of natural childbirth. The false aneurysm was resected with the coarctation through a thoracotomy and proximal aorta was directly anastomosed to distal aorta. Endovascular therapy has become preferred method in recent years in treatment for coarctation of the aorta. However, careful consideration should be given to the irregularities on the aorta with the coarctation for diagnosis of false aneurysm.

  10. Are you looking at me? Accuracy in processing line-of-sight in Turner syndrome.

    PubMed Central

    Elgar, Kate; Campbell, Ruth; Skuse, David

    2002-01-01

    The behavioural phenotype of women with Turner syndrome (X-monosomy, 45,X) is poorly understood, but includes reports of some social development anomalies. With this in mind, accuracy of direction of gaze detection was investigated in women with Turner syndrome. Two simple experimental tasks were used to test the prediction that the ability to ascertain gaze direction from face photographs showing small lateral angular gaze deviations would be impaired in this syndrome, compared with a control population of men and women. The prediction was confirmed and was found to affect both the detection of egocentric gaze from the eyes ('is the face looking at me?') and the detection of allocentric gaze, where the eyes in a photographed face inspected one of a number of locations of attention ('where is she looking?'). We suggest that dosage-sensitive X-linked genes contribute to the development of gaze-monitoring abilities. PMID:12495483

  11. 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)

  12. Turner syndrome in Albania and the efficacy of its treatment with growth hormone.

    PubMed

    Hoxha, Petrit; Babameto-Laku, Anila; Vyshka, Gentian; Gjoka, Klodiana; Minxuri, Dorina; Myrtaj, Elira; Çakërri, Luljeta

    2015-11-01

    The aim of this study was the evaluation of Turner syndrome inside the Albanian population, its clinical, cytological and genetic characteristics, the accompanying pathologies, and the efficacy of the treatment with the growth hormone. We performed a retrospective analysis of 59 patients suffering from this syndrome (aging from 5 to 23 years old). The diagnosis of female patients suffering from Turner syndrome is delayed, with a mean age at the moment of diagnosis of 13.74 years (5-23 years). The main reason for seeking medical advice was the growth retardation or a delayed puberty. Available data for 52 patients showed that the most frequent accompanying pathologies were the following: thyroid autoimmune disorders (59%), cardiovascular anomalies (43%), renal pathologies (41%), hearing impairment (4.3%) and hypertension (3.3%). Follow-up for the growth rate was possible for 52 patients out of the total of 59 patients. Twenty-five of the female patients suffering Turner syndrome and forming part of our study sample were treated with growth hormone for a period averaging 3 years and 4 months. A variety of reasons was identified as responsible for the missed treatment in 27 patients. We saw an enhanced growth (in terms of body height) within the treated subgroup, when compared with the untreated subgroup (27 patients), especially during the first 3 years of the follow-up. No side effects of this treatment were reported. Both groups of patients initiated as well a sexual hormone therapy (estrogens and progesterone) for inducing puberty at the age of 12 years. Further work is needed for an early diagnosis of this syndrome, the prompt treatment with growth hormone and the monitoring of accompanying disorders. This will ensure a better quality of life and an improvement of the longevity of patients suffering from the Turner syndrome.

  13. A turner syndrome patient carrying a mosaic distal x chromosome marker.

    PubMed

    Mazzaschi, Roberto L P; Taylor, Juliet; Robertson, Stephen P; Love, Donald R; George, Alice M

    2014-01-01

    A skin sample from a 17-year-old female was received for routine karyotyping with a set of clinical features including clonic seizures, cardiomyopathy, hepatic adenomas, and skeletal dysplasia. Conventional karyotyping revealed a mosaic Turner syndrome karyotype with a cell line containing a small marker of X chromosome origin. This was later confirmed on peripheral blood cultures by conventional G-banding, fluorescence in situ hybridisation and microarray analysis. Similar Turner mosaic marker chromosome cases have been previously reported in the literature, with a variable phenotype ranging from the mild "classic" Turner syndrome to anencephaly, agenesis of the corpus callosum, complex heart malformation, and syndactyly of the fingers and toes. This case report has a phenotype that is largely discordant with previously published cases as it lies at the severe end of the Turner variant phenotype scale. The observed cytogenetic abnormalities in this study may represent a coincidental finding, but we cannot exclude the possibility that the marker has a nonfunctioning X chromosome inactivation locus, leading to functional disomy of those genes carried by the marker.

  14. [Partial abnormal pulmonary venous return. An underestimated and unknown association in Turner-Ullrich syndrome. Presentation of an original case].

    PubMed

    Neel, G; Fournie, J M; Maillard, L; Rioux, P; Desveaux, B; Quilliet, L; Raynaud, P

    1991-11-01

    The authors report the case of a 59-year-old woman with a complex cardiac lesion consisting of degenerative major mitral insufficiency masking partial abnormal pulmonary venous return. These cardiac abnormalities fell within a context of genetic disease since the patient had Turner's syndrome, confirmed at the age of 58 by a 45 x 0 karyotype. They detail the originality of the clinical manifestations of partial abnormal pulmonary venous return and review the literature concerning cardiac malformations in Turner's syndrome.

  15. 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.

  16. Abnormal Methylation Status of the GNAS Exon 1A Region in Pseudohypohyperparathyroidism Combined With Turner Syndrome.

    PubMed

    Zhu, Jie; Wang, Dong; Ren, An; Xing, Yan; Zhang, Dongliang; Wei, Jun; Yu, Ning; Xing, Xuenong; Ye, Shandong

    2015-12-01

    Pseudohypohyperparathyroidism (PHHP) is a rare type of pseudohypoparathyroidism (PHP), which seems to have a normal skeletal response to parathyroid hormone but shows renal resistance. Almost all patients with PHHP have PHP Ib, a subtype of PHP that is usually caused by GNAS methylation defects, often in exon 1A. Some features of Albright hereditary osteodystrophy can occasionally be found in patients with PHHP, but these features are also common in Turner syndrome. The authors report on an extremely rare case of a patient with PHHP and Turner syndrome, a 47-year-old woman who sought medical attention for hypocalcemia and elevated parathyroid hormone. She had no family history of hypocalcemia and no STX16 gene deletions. She had a mosaic karyotype of 46, X, del(X)(p11.4)/45, XO. Pyrosequencing was performed to determine the GNAS exon 1A methylation. The degree of methylation found in exon 1A of the patient was lower than her unaffected relatives.

  17. Acromegaly accompanied by Turner syndrome with 47,XXX/45,X/46,XX mosaicism.

    PubMed

    Yamazaki, Masanori; Sato, Ai; Nishio, Shin-ichi; Takeda, Teiji; Miyamoto, Takahide; Katai, Miyuki; Hashizume, Kiyoshi

    2009-01-01

    A 33-year-old woman was hospitalized for examination of edematous laryngopharynx. She was acromegalic. A pituitary adenoma with elevated serum levels of growth hormone (GH) and insulin-like growth factor-I (IGF-I) was detected, indicating acromegaly caused by GH-secreting pituitary adenoma. Multiple pigmented nevi were also noted without overt short stature and cubitus valgus. Chromosome analysis revealed that she had contracted Turner syndrome with 47,XXX/45,X/46,XX mosaicism. Transsphenoidal resection of the tumor decreased serum GH and IGF-I levels, but the edema was not improved. Both premature ovarian failure and hypertension appeared after surgery. This case may indicate the important relationships between GH/IGF-I and Turner syndrome.

  18. Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality.

    PubMed

    Manassero-Morales, Gioconda; Alvarez-Manassero, Denisse; Merino-Luna, Alfredo

    2016-01-01

    Introduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality. Objective. To report a unique case of double monoclonal chromosomal abnormality with trisomy of chromosome 21 and an X ring chromosome in all cells studied; no previous report has been found. Case Report. Female, 28 months old, with pathological short stature from birth, with the following dysmorphic features: tilted upward palpebral fissures, short neck, brachycephaly, and low-set ears. During the neonatal period, the infant presented generalized hypotonia and lymphedema of hands and feet. Karyotype showed 47,X,r(X),+21 [30]. Conclusion. Clinical features of both Down and Turner syndromes were found, highlighting short stature that has remained below 3 z score from birth to the present, associated with delayed psychomotor development. G-banded karyotype analysis in peripheral blood is essential for a definitive diagnosis.

  19. 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

  20. 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.

  1. 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.

  2. [Rapidly progressive puberty in a patient with mosaic Turner syndrome: a case report and literature review].

    PubMed

    Liang, Y; Wei, H; Yu, X; Huang, W; Luo, X P

    2017-02-02

    Objective: To explore the clinical characteristics of diagnosis and treatment in patients with Turner syndrome and rapidly progressive puberty. Method: A rare case of rapidly progressive puberty in Turner syndrome with a mosaic karyotype of 45, X/46, X, del(X)(p21)(80%/20%)was diagnosed at Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology in January. 2015. Clinical characteristics and the related literature were reviewed. Original papers on precocious puberty or rapidly progressive puberty in Turner syndrome, published until Apr. 2016 were retrieved at PubMed and CNKI databases by the use of the key words "Turner syndrome" , "precocious puberty" and "rapidly progressive puberty" . Result: The patient was born at term with birth weight of 2 450 g and was diagnosed with SGA at 3 years of age for the first evaluating of growth and development. Then recombined human growth hormone (rhGH )was given at 4 years of age due to short stature (height<3 percentile) and low growth velocity(<5.0 cm/year) as well. However, rhGH treatment was discontinued after 9 months because of economic burdens. Breast development was noted at 9 years and 3 months. The patient was followed up at 3 months intervals. Physical examination revealed a Tanner stage Ⅲ breast development at 10.33 years , the bone age was 11.6 years. Then, gonadotropin-releasing hormone analogs treatment was added to slow pubertal progression and to preserve maximum adult height. The growth rate decreased with therapy from 7.5 cm/year to 4.4 cm/year. The patient was reevaluated, and the chromosome analysis of peripheral blood revealed a mosaic karyotype 45, X/46, X, del(X)(p21)(80%/ 20%). To date, only 10 cases have been reported in the literature. Six of them showing mosaic TS, three karyotypes with structural abnormality of short arm of X chromosome, one with the karyotype 45, X. Conclusion: It is the first time that rapidly progressive puberty in a 45, X/46, X, del(X)(p21

  3. A case report of severe panhypopituitarism in a newborn delivered by a women with Turner syndrome.

    PubMed

    Olszewska, Marta; Kiełbasa, Grzegorz; Wójcik, Małgorzata; Zygmunt-Górska, Agata; Starzyk, Jerzy B

    2015-01-01

    Turner syndrome (TS) is a congenital disease caused by absence or structural abnormalities of sex chromosomes resulting in gonadal dysgenesis. Spontaneous pregnancies occur in 2-8% of patients, especially with mosaic kariotypes, however they are associated with increased risk of poor outcome both for mother and fetus. We report a 4-day-old male infant delivered by women with mosaic TS who was admitted to the pediatric intensive care unit and presented with severe panhypopituitarism as the early manifestation of pituitary stalk interruption syndrome (PSIS). To the best of our knowledge this is the first report of severe panhypopituitarism in a newborn borne by women with TS.

  4. 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.

  5. [Stimulation test of the adenohypophysis with arginine, gonadotropin-releasing hormone (GRH), and thyrotropin-releasing hormone (TRH) in 45, XO patients with Turner's syndrome (author's transl)].

    PubMed

    Rudolf, K; Kyank, H; Göretzlehner, G; Kunkel, S

    1980-01-01

    Pituitary stimulation tests with arginine, gonadotropin-releasing hormone (GRH) and thyrotropin-releasing hormone (TRH) were performed in five 45, XO patients with Turner's syndrome. Their ages ranged from 12--17 years. Serum levels of LH, FSH, PRL, HGH, and TSH were measured by RIA. The hypothalamo-pituitary system appeared normal in the patients with Turner's syndrome.

  6. Numerical magnitude processing impairments in genetic syndromes: a cross-syndrome comparison of Turner and 22q11.2 deletion syndromes.

    PubMed

    Brankaer, Carmen; Ghesquière, Pol; De Wel, Anke; Swillen, Ann; De Smedt, Bert

    2016-10-17

    Cross-syndrome comparisons offer an important window onto understanding heterogeneity in mathematical learning disabilities or dyscalculia. The present study therefore investigated symbolic numerical magnitude processing in two genetic syndromes that are both characterized by mathematical learning disabilities: Turner syndrome and 22q11.2 deletion syndrome (22q11DS). We further verified whether the phenotypic outcomes of these syndromes emerged from the same or different cognitive processes and therefore examined whether numerical impairments were related to working memory deficits, often observed in these syndromes. Participants were 24 girls with Turner syndrome, 25 children with 22q11DS and 48 well-matched typically developing control children. All children completed a symbolic numerical magnitude comparison task and four additional working memory tasks. Both groups of children with genetic syndromes showed similar impairments in symbolic numerical magnitude processing compared to typically developing controls. Importantly, in Turner syndrome, group differences in symbolic numerical magnitude processing disappeared when their difficulties in visual-spatial working memory were taken into account. In contrast, the difficulties in 22q11DS were not explained by poor visual-spatial working memory. These data suggest that different factors underlie the symbolic numerical magnitude processing impairments in both patient groups with mathematical learning disabilities and highlight the value of cross-syndrome comparisons for understanding different pathways to mathematical learning disabilities or dyscalculia.

  7. Effectiveness of laparoscopic gonadectomy using abdominal wall lift method on Turner's syndrome patients with 45, X/46, XY mosaicism.

    PubMed

    Nakano, H; Kawashima, M; Okada, S; Igarashi, T; Nakata, M; Ogino, M

    2001-04-01

    We present a Turner's syndrome patient with a 45, X/46, XY mosaicism who underwent a prophylactic laparoscopic gonadectomy using the abdominal wall lift method. The patient was a 14-year-old phenotypic girl who was referred for an examination of primary amenorrhea. She had already been found to have Turner's syndrome with 45, X/46, XY mosaicism. After an extensive discussion with the patient and her family regarding her high risk for developing a gonadoblastoma, a laparoscopic bilateral salpingo-oophorectomy using the abdominal wall-life method was performed. Laparoscopy using the abdominal wall lift method has an advantage over CO2 pneumoperitoneum method for patients with Turner's syndrome when it is difficult to intubate because of a webbed neck or a shortened trachea.

  8. A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report

    PubMed Central

    2009-01-01

    Background Small supernumerary marker chromosomes (sSMC) can be present in numerically abnormal karyotypes like in a 'Turner-syndrome karyotype' mos 45,X/46,X,+mar. Results Here we report the first case of an sSMC found in Turner syndrome karyotypes (sSMCT) derived from chromosome 14 in a Turner syndrome patient. According to cytogenetic and molecular cytogenetic characterization the karyotype was 46,X,+del(14)(q11.1). The present case is the third Turner syndrome case with an sSMCT not derived from the X- or the Y-chromosome. Conclusion More comprehensive characterization of such sSMCT might identify them to be more frequent than only ~0.6% in Turner syndrome cases according to available data. PMID:19909521

  9. 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

  10. Multiorgan autoimmunity in a Turner syndrome patient with partial monosomy 2q and trisomy 10p.

    PubMed

    Grossi, Armando; Palma, Alessia; Zanni, Ginevra; Novelli, Antonio; Loddo, Sara; Cappa, Marco; Fierabracci, Alessandra

    2013-02-25

    Turner syndrome is a condition caused by numeric and structural abnormalities of the X chromosome, and is characterized by a series of clinical features, the most common being short stature and gonadal dysgenesis. An increased frequency of autoimmune diseases as well as an elevated incidence of autoantibodies has been observed in Turner patients. We present a unique case of mosaic Turner syndrome with a complex rearrangement consisting of a partial deletion of chromosome 2q and duplication of chromosome 10p {[46],XX,der(2)t(2;10)(2pter→2q37::10p13→10pter)[127]/45,X,der(2)t(2;10)(2pter→2q37::10p13→10pter)[23]}. The patient is affected by partial empty sella, in association with a group of multiorgan autoimmunity-related manifestations including Hashimoto's thyroiditis, celiac disease, insulin-dependent diabetes mellitus (Type 1 diabetes, T1D), possible autoimmune inner ear disease with sensorineural deficit, preclinical Addison disease and alopecia universalis. The patient was previously described at the age of 2.4 years and now re-evaluated at the age of 14 years after she developed autoimmune conditions. AIRE gene screening revealed heterozygous c.834 C>G polymorphism (p.Ser278Arg) and IVS9+6G>A variation, thus likely excluding autoimmune polyendocrine syndrome Type 1 (APECED). Heterozygous R620W polymorphism of the protein tyrosine phosphatase non receptor type 22 (PTPN22) gene was detected in patient's DNA. SNP-array analysis revealed that autoimmunity-related genes could be affected by the partial monosomy 2q and trisomy 10p. These data suggest that early genetic analysis in TS patients with complex associations of multiorgan autoimmune manifestations would permit a precise diagnostic classification and also be an indicator for undiscovered pathogenetic mechanisms.

  11. 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.

  12. Overlap syndromes of autoimmune hepatitis: an open question.

    PubMed

    Durazzo, Marilena; Premoli, Alberto; Paschetta, Elena; Belci, Paola; Spandre, Maurizio; Bo, Simona

    2013-02-01

    The headword "overlap syndromes" of liver diseases includes the coexistence of autoimmune hepatitis, primary biliary cirrhosis, and primary sclerosing cholangitis. These syndromes often represent a diagnostic and therapeutic challenge for hepatologists; it remains unclear whether these overlap syndromes form distinct entities or they are only variants of the major autoimmune liver diseases. The most frequent reported association occurs between autoimmune hepatitis and primary biliary cirrhosis, whereas the overlap between autoimmune hepatitis and primary sclerosing cholangitis is less frequent, typically at young age and often attendant with an inflammatory bowel disease. The choice therapy is based on ursodeoxycholic acid and immunosuppressive drugs, used at the same time or consecutively, according to the course of disease. The diagnostic scores for autoimmune hepatitis can help for diagnosis, even though their definitive soundness is lacking.

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

    PubMed

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

    2016-01-01

    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.

  14. Cryopreservation of ovarian tissue and in vitro matured oocytes in a female with mosaic Turner syndrome: Case Report.

    PubMed

    Huang, J Y J; Tulandi, T; Holzer, H; Lau, N M; Macdonald, S; Tan, S L; Chian, R C

    2008-02-01

    We report a novel approach of fertility preservation in a young woman with mosaic Turner syndrome. A 16-year-old female with 20% 45XO and 80% 46XX karyotype underwent laparoscopic ovarian wedge resection. Before performing ovarian tissue cryopreservation, all visible follicles on the ovarian surface were aspirated. We recovered 11 immature germinal vesicle stage oocytes, which were subjected to in vitro maturation (IVM). Eight oocytes that matured (73% maturation rate) were cryopreserved by vitrification. The combination of ovarian tissue cryobanking and immature oocyte collection from the tissue followed by IVM and vitrification of matured oocytes represent a promising approach of fertility preservation for young women with mosaic Turner syndrome.

  15. [Ocular symptoms in a family with pseudo-Ullrich-Turner syndrome].

    PubMed

    Förster, W; Lenz, W; Busse, H

    1991-11-01

    We report on a family with some features of the Pseudo-Ullrich-Turner-Syndrome, so-called Noonan-Syndrome. Besides low-set ears, microgenia, short neck, pterygium colli, low-anterior hair line and small stature as well as partial scoliosis, partial cubitus valgus and camptodactylia, retinal detachment, disturbances of the eye motility, keratoconus, unilateral ptosis and antimongoloid slant of the palpebral fissures in different expression are described. The caryotype was normal. Some of the features can be seen within at least 2 generations of the family. It seems to be an autosomal genetic mode of transmission. Differences and common characteristics in comparison to the literature are shown. Differential diagnostic aspects are described. A definite relation to a syndrome already described is not possible.

  16. [Frequency of prevalence of Turner syndrome in fetuses of patients referred to genetic amniocentesis in 2007-2011].

    PubMed

    Chuchracki, Marek; Szczepaniak, Aleksandra; Sedziak, Anna; Ziółkowska, Katarzyna; Opala, Tomasz

    2012-01-01

    Turner syndrome is a genetic diseases caused by an aberration of sex chromosomes. It is conditioned by structural and/or quantitative aberration of one of the two X chromosomes, with frequent presence of mosaicism in cells. Since there are a few types of the syndrome, its diagnosis is often difficult and, as a consequence, a lot of people live without knowing of their disease. It is only during puberty that symptoms occur, or when full maturity begins it possible to diagnose the disease and start treatment. Genetic amniocentesis is a method thanks to which a material for cytogenetic test is obtained. The method involves puncturing amniotic sac and aspiration of fluid under the control of ultrasound for diagnostic purposes. Microscopic analysis of the chromosomes makes it possible to recognize aberration of one chromosome X which indicates Tuner syndrome phenotype. The objective of the study was the analysis of the frequency of prevalence of Turner syndrome in the patients' fetuses referred for genetic amniocentesis in 2007-2011. The most frequent cause of Turner syndrome in girls is missing one of two chromosomes X. the analysis shows that in 1815 tests Turner syndrome was confirmed in 46 cases which constitutes 2.5%. It is mostly young women, aged 25-29 that are at risk of having a child with this aberration. Indications which were later confirmed by the cases of fetuses with this syndrome included fetal hydrops, cystic hygroma and abnormalities in ultrasound image. In case of indications such as genetic defects in the family, incorrect result of triple test are not confirmed by Turner syndrome.

  17. 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.

  18. Y chromosome--specific DNA sequences in Turner-syndrome mosaicism.

    PubMed Central

    Gemmill, R M; Pearce-Birge, L; Bixenman, H; Hecht, B K; Allanson, J E

    1987-01-01

    Phenotypic females with Y-chromosomal material in their genome have an increased risk for development of gonadal malignancy. The detection and identification of Y-chromosomal material in these cases can be of critical importance for medical management. Chromosome analysis in four patients with Turner syndrome revealed the characteristic 45,X chromosome complement together with a second cell population containing a small marker chromosome (46,X, + mar). Molecular-hybridization analyses utilizing cloned, Y chromosome-specific DNA sequences were performed to determine whether Y-chromosomal material was present in each patient. Three cases contained some Y chromosome-specific sequences, whereas one case was negative with all four probes that we used. These results were compared with detailed cytogenetic studies--including G-, Q-, and G-11-banding--of the marker chromosomes. In one case in which Y chromosome-specific DNA sequences were demonstrated, the marker chromosome was G-11 negative. These results demonstrate that cytogenetic analysis alone can lead to misidentification of some Y chromosome-derived markers. The combination of cytogenetic and molecular analyses permits a more accurate characterization of anomalous Y chromosomes and in turn provides additional information that can be crucial to the correct medical management of Turner-syndrome patients. Images Fig. 2 Fig. 3 PMID:3475977

  19. Cruveilhier-Baumgarten disease in a patient with Turner syndrome: case report of a rare indication for liver transplantation.

    PubMed

    Aucejo, Federico; Ibrahim, Zuhaib; Hashimoto, Koji; Quintini, Cristiano; Kelly, Dympna; Vogt, David; Eghtesad, Bijan; Fung, John; Miller, Charles; Tuthill, Ralph

    2008-03-01

    Some chromosomal alterations can be associated with vascular abnormalities. For instance, Turner syndrome can be complicated by agenesis or hypoplasia of the portal venous system causing presinusoidal portal hypertension. Liver transplantation to treat this condition overcomes portal hypertension and reconstitutes the diminished hepatic function due to severe atrophy of the portal venous inflow.

  20. A Case of High-grade Transitional Cell Carcinoma of the Bladder in a Pediatric Patient With Turner Syndrome.

    PubMed

    Aguiar, Liza; Danialan, Richard; Kim, Christina

    2015-06-01

    Transitional cell carcinoma is a rare entity in children, especially in the first decade of life. The majority of these tumors are of low grade and noninvasive. We report an interesting case of a high-grade superficial transitional cell carcinoma in a 3-year-old girl with Turner syndrome.

  1. 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.

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

    PubMed Central

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

    2014-01-01

    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 14 years 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

  3. Overlap syndromes of autoimmune hepatitis: diagnosis and treatment.

    PubMed

    Aguilar-Nájera, O; Velasco-Zamora, J A; Torre, A

    2015-01-01

    Some patients with autoimmune liver disease have characteristics of cholestasis, as well as of autoimmune hepatitis. Despite the fact that this is a relatively frequent clinical condition seen in referral centers for liver diseases, there is little evidence as regards the clinical management of these syndromes due to their low prevalence and the lack of standardized definitions and diagnostic criteria. This is relevant, given that published studies report that there is a lower therapeutic response and poorer outcome in patients with overlap syndrome than in those presenting solely with autoimmune hepatitis. Whether overlap syndromes are distinct entities or the presence of 2 concurrent diseases is still a subject of debate. They should be suspected in autoimmune hepatitis patients that present with signs of cholestasis, as it is known that overlap behavior tends to be more aggressive, with higher rates of cirrhosis and the need for liver transplantation. Treatment response is also poorer and should be directed at the predominant component. Standardized definitions are necessary so that these syndromes can be studied in controlled clinical trials.

  4. Prediction of aortic dilation in Turner syndrome - enhancing the use of serial cardiovascular magnetic resonance

    PubMed Central

    2013-01-01

    Background Identification of the subset females with Turner syndrome who face especially high risk of aortic dissection is difficult, and more optimal risk assessment is pivotal in order to improve outcomes. This study aimed to provide comprehensive, dynamic mathematical models of aortic disease in Turner syndrome by use of cardiovascular magnetic resonance (CMR). Methods A prospective framework of long-term aortic follow-up was used, which comprised diameters of the thoracic aorta prospectively assessed at nine positions by CMR at the three points in time (baseline [n = 102, age 38 ± 11 years], follow-up [after 2.4 ± 0.4 years, n = 80] and end-of-study [after 4.8 ± 0.5 years, n = 78]). Mathematical models were created that cohesively integrated all measurements at all positions, from all visits and for all participants, and using these models cohesive risk factor analyses were conducted based on which predictive modeling was performed on which predictive modelling was performed. Results The cohesive models showed that the variables with effect on aortic diameter were aortic coarctation (P < 0.0001), bicuspid aortic valves (P < 0.0001), age (P < 0.0001), diastolic blood pressure (P = 0.0008), body surface area (P = 0.015) and antihypertensive treatment (P = 0.005). Oestrogen replacement therapy had an effect of borderline significance (P = 0.08). From these data, mathematical models were created that enabled preemption of aortic dilation from CMR derived aortic diameters in scenarios both with and without known risk factors. The fit of the models to the actual data was good. Conclusion The presented cohesive model for prediction of aortic diameter in Turner syndrome could help identifying females with rapid growth of aortic diameter, and may enhance clinical decision-making based on serial CMR. PMID:23742092

  5. Turner Syndrome

    MedlinePlus

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  6. Bilateral coxitis in scleroderma-polymyositis overlap syndrome

    PubMed Central

    Berrada, Khadija; Abourazzak, Fatima Ezzahra; Houssaini, Ghita Sqalli; Kadi, Nadira; Tahiri, Latifa; Amrani, Kawthar; Khammar, Zineb; Lahlou, Meriam; Berrady, Rhizlane; Rabhi, Samira; Tizniti, Siham; Bono, Wafaa; Harzy, Taoufik

    2014-01-01

    Joint manifestations in scleroderma (Scl) and polymyositis (PM) are dominated by inflammatory arthralgia. Arthritis is less common and preferentially affects the hands, wrists, knees, and ankles. Involvement of the hip has been rarely reported in the literature. We report a case of coxitis diagnosed in a patient suffering from scleroderma-polymyositis overlap syndrome successfully treated by ultrasound-guided infiltration of triamcinolone hexacetonide PMID:27708891

  7. 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.

  8. Small intestinal tubular adenoma in a pediatric patient with Turner syndrome.

    PubMed

    Tang, Wen-Juan; Huang, Ying; Chen, Lian; Zheng, Shan; Dong, Kui-Ran

    2013-04-07

    Turner syndrome (TS) is a female chromosomal disorder caused by the lack of an X chromosome. The loss of this chromosome may result in the deficiency of tumor-suppressive or DNA repair genes, leading to tumorigenesis. Recombinant human growth hormone (GH) has been popularly used for treatment in TS patients for growth promotion. Although treatment with GH has been correlated with precancerous and cancerous lesions in TS children, its associations with gastric or colonic tumors, especially ileal tubular adenomas, have not been reported frequently. We here report a case of a 16-year-old patient with TS and tubular adenoma of the small intestine. Whether the ileal adenoma was caused by TS itself or GH therapy was discussed.

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

    PubMed

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

    2010-01-01

    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.

  10. 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.

  11. 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

  12. Interrupted aortic arch with isolated persistent left superior vena cava in patient with Turners syndrome

    PubMed Central

    Kattea, M. Obadah; Smettei, Osama A.; Kattea, Abdulrahman; Abazid, Rami M.

    2016-01-01

    We present a case of 13-year-old female with Turner syndrome (TS), who presented with unexplained lower limbs swelling and ejection systolic murmur at the left second intercostal space. Suspicion of mild aortic coarctation was made by echocardiography. Computed tomography angiography (CTA) showed a complete interruption of the aortic arch (IAA) below the left subclavian artery with persistent left superior vena cava (PLSVC) and absent right SVC, defined as an isolated PLSVC. The patient underwent successful surgical correction after unsuccessful trial of transcatheter stent placement. We present this case of asymptomatic IAA to draw attention to the importance of CTA in diagnosing such rare anomalies and ruling out asymptomatic major cardiovascular abnormalities in patient with TS. PMID:27843801

  13. The processing of number scales beyond whole numbers in development: Dissociations in arithmetic in Turner's syndrome.

    PubMed

    Zougkou, Konstantina; Temple, Christine M

    2016-01-01

    The arithmetical skills in two children with Turner's syndrome (TS), each the focus of a case study, were analysed in whole numbers and other number scales that have not been systematically explored previously, fractions, decimals, percentages, and negative numbers. The intention was to identify the fractionation of arithmetical skills. The two girls with TS showed dissociations of arithmetical skill in the calculation system of whole numbers that support its modular organization. Fractionation of skills was observed in some components of the other number scales, suggesting an analogous organization within these scales. The operational specificity of impairment within number scales but not others argued against a unitary arithmetical system but rather for autonomous operational scales within distinct number scales. A general model of arithmetic is proposed.

  14. Influence of HLA genotype on birth weight of patients with Turner syndrome.

    PubMed

    Larizza, D; Martinetti, M; Pizzochero, C; Cuccia, M; Severi, F

    1992-02-01

    Growth failure starting before birth is a common characteristic in Turner syndrome, and its pathogenesis is still not completely explained. Experiments performed in mice and rats to test whether a genetic disparity between mothers and offspring and maternal immunological status have any influence on litter size have demonstrated that allogenic litters are significantly larger in size than genetically compatible ones. Studies in humans have given contrasting results, but some authors have found that heterozygosity at enzyme loci and in blood groups is positively correlated with intrauterine growth. HLA class I and II polymorphisms were defined in 53 patients with Turner syndrome and in their parents, and lymphocytotoxic antibody detection was performed in 36 mothers. These data were related to the patients' birth weight. The frequency of the HLA-B16 allele in patients with a birth weight greater than 10th centile was significantly higher in comparison with those less than 10th centile. HLA antigen sharing was present in 43 couples (81.1%). Mean birth weight was 2934 +/- 472 g in patients without HLA antigen parental sharing and 2721 +/- 529 g in those whose parents shared HLA antigens. The mean birth weight of the 10 patients whose parents do not share HLA antigens was significantly higher than that of the patients with parental HLA-B+ DR sharing (P less than 0.05) and not significantly highe than in those patients with parental HLA sharing at other HLA loci. Patients whose parents shared B+DR antigens also had significantly smaller birth weights than those with B and A+B+DR sharing (P less than 0.025 and P less than 0.025). No significant difference in mean birth weight was found in relation to other parameters, such as mother-child histocompatibility, HLA homozygosity and lymphocytotoxic production in the mothers.

  15. Two-phase orthodontic treatment in a patient with turner syndrome: an unusual case of deep bite.

    PubMed

    Aristizábal, Juan Fernando; Smit, Rosana Martínez

    2015-05-01

    Turner syndrome is caused by complete or partial absence of one X chromosome. These patients usually have a delay in growth and altered body proportions, causing sexual infantilism, short stature, delayed bone maturation, and variations in craniofacial morphology, among other systemic complications. The skeletal features associated with this syndrome include maxillary growth reduction with midface hypoplasia; mandibular micrognathia; high, narrow palate; V-shaped maxillary arch; and open bite. This case report shows a two-phase orthodontic treatment in a patient with Turner syndrome with a Class II malocclusion and severe deep bite, which is an unusual feature in patients with this disease. A conventional orthodontic treatment was performed, and after 20 months in retention the patient remains stable.

  16. [Syndrome of overlap: Chronic hepatitis C/autoimmune hepatitis: fact or fancy?].

    PubMed

    Antonaci, Salvatore; Giannelli, Gianluigi; Simone, Barbara; Vella, Francesco Saverio

    2005-01-01

    Non-organ specific autoantibodies are common in patients with chronic hepatitis C, making differential diagnosis difficult between viral, autoimmune forms and hepatitis C/autoimmune hepatitis overlap syndrome. The lack of additional criteria of autoimmunity in most patients leads to the definition of a "false" hepatitis C-autoimmune hepatitis overlap syndrome, while the "true" overlap syndrome occurs in a very few number of subjects. In patients with "false" overlap syndrome the first choice therapy is based on the administration of interferon plus ribavirin. On the contrary, first-line therapy with corticosteroids should be restricted to the "true" hepatitis overlap syndrome with the new therapeutic option of interferon/corticosteroid association.

  17. Shrinking lung syndrome in systemic lupus erythematosus-scleroderma overlap.

    PubMed

    Guleria, Vivek S; Singh, Pradeep K; Saxena, Puneet; Subramanian, Shankar

    2014-10-01

    Shrinking lung syndrome (SLS) is a infrequently reported manifestation of systemic lupus erythematosus (SLE). Reported prevalence of SLS is about 0.5% in SLE patients. Pathogenesis is not fully understood and different therapeutic modalities have been employed with variable results, as only 77 cases of SLS have been documented in literature. SLS in SLE-Scleroderma overlap has not been reported yet. We report a patient of SLE - scleroderma overlap presenting with dyspnea, intermittent orthopnea and pleuritic chest pain. Evaluation revealed elevated hemidiaphragms and severe restrictive defect. She was eventually diagnosed as a case of SLS. This case report is a reminder to the medical fraternity that SLS although a rare complication must be thought of in the special subset of patients of SLE having respiratory symptoms.

  18. CPEO and carnitine deficiency overlapping in MELAS syndrome.

    PubMed

    Hsu, C C; Chuang, Y H; Tsai, J L; Jong, H J; Shen, Y Y; Huang, H L; Chen, H L; Lee, H C; Pang, C Y; Wei, Y H

    1995-09-01

    Mitochondrial myopathy, encephalopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is one of the mitochondrial encephalomyopathies that has distinct clinical features including stroke-like episodes with migraine-like headache, nausea, vomiting, encephalopathy and lactic acidosis. We report a 27-year-old woman who presented with partial seizure, stroke-like episodes including hemiparesis, hemianopia and hemihypethesia, sensorineural hearing loss, migraine-like headache, and lactic acidosis. Brain computed tomographic scan showed encephalomalacia in the right parieto-occipital area and recent hypodensity in the left temporoparieto-occipital area with cortical atrophy. Muscle biopsy revealed ragged-red fibers and paracrystaline inclusions in the mitochondria. Genetic study revealed an A to G point mutation at nucleotide position (np) 3243 of mitochondrial DNA. External ophthalmoplegia and ptosis were also found during two exaggerated episodes in this patient. Therefore, the overlapping syndrome of chronic progressive external ophthalmoplegia in the MELAS syndrome is considered in this case. Furthermore, we also found carnitine deficiency in this patient and she was responsive well to steroid therapy. Muscle biopsy also revealed excessive lipid droplets deposits. Therefore, the carnitine deficiency may occur in MELAS syndrome with the A to G point mutation at np 3243. We recommend the steroid or carnitine supplement therapy be applied to the MELAS syndrome with carnitine deficiency.

  19. [Ischemic stroke in a young woman of Turner syndrome with T1-weighted imaging-pulvinar sign].

    PubMed

    Sangkyun, Ko; Kawano, Akiko; Yamanoi, Takahiko; Tokunaga, Keiko

    2014-01-01

    A 39-year-old woman developed right hemiparesis in a few days. Magnetic resonance images revealed cerebral infarction in the territory of the left lenticulostriate artery, and MR angiography showed severe stenosis of the middle and anterior cerebral arteries and moderate one of the vertebral arteries. Bilateral and symmetric T1 hyperintensity in the pulvinar (T1-weighted imaging-pulvinar sign; "T1 pulvinar sign") was detected, which is recognized as a key imaging of Fabry disease. The α-galactosidase A gene analysis, however, showed no mutation. Although specific physical symptoms were solely short stature and oligomenorrhea, the diagnosis of Turner syndrome was confirmed by the chromosome analysis which showed mosaicism of 45XO and 46X,r(X) (60%:40%). To our knowledge, this is the first report of Turner syndrome with "T1 pulvinar sign".

  20. ANCA Associated Mononeuritis Multiplex with Overlap in Vasculitic Syndromes

    PubMed Central

    Narayanan, Coimbatore; Varadraj, Govindraj; Nandeesh, Bevinahalli

    2017-01-01

    Mononeuritis multiplex is a common manifestation of many illnesses which includes Hansen’s disease and certain types of systemic vasculitis. The Antineutrophil Cytoplasmic Antibody (ANCA)-Associated Vasculitis (AAV) is a group of rare diseases which show typical characteristic inflammatory cell infiltration and blood vessel wall necrosis. AAV syndromes include Granulomatosis with Polyangiitis (GPA), Microscopic Polyangiitis (MPA) and Eosinophilic Granulomatosis with Polyangiitis (EGPA). We describe a patient who presented with mononeuritis multiplex and had features of overlap between EGPA and MPA. The patient was treated with standard regimen of steroids and pulsed cyclophosphamide and she achieved excellent clinical remission. PMID:28273992

  1. Dilation of the ascending aorta in Turner syndrome - a prospective cardiovascular magnetic resonance study

    PubMed Central

    2011-01-01

    Background The risk of aortic dissection is 100-fold increased in Turner syndrome (TS). Unfortunately, risk stratification is inadequate due to a lack of insight into the natural course of the syndrome-associated aortopathy. Therefore, this study aimed to prospectively assess aortic dimensions in TS. Methods Eighty adult TS patients were examined twice with a mean follow-up of 2.4 ± 0.4 years, and 67 healthy age and gender-matched controls were examined once. Aortic dimensions were measured at nine predefined positions using 3D, non-contrast and free-breathing cardiovascular magnetic resonance. Transthoracic echocardiography and 24-hour ambulatory blood pressure were also performed. Results At baseline, aortic diameters (body surface area indexed) were larger at all positions in TS. Aortic dilation was more prevalent at all positions excluding the distal transverse aortic arch. Aortic diameter increased in the aortic sinus, at the sinotubular junction and in the mid-ascending aorta with growth rates of 0.1 - 0.4 mm/year. Aortic diameters at all other positions were unchanged. The bicuspid aortic valve conferred higher aortic sinus growth rates (p < 0.05). No other predictors of aortic growth were identified. Conclusion A general aortopathy is present in TS with enlargement of the ascending aorta, which is accelerated in the presence of a bicuspid aortic valve. PMID:21527014

  2. Aripiprazole once-monthly as treatment for psychosis in Turner syndrome: literature review and case report.

    PubMed

    Carlone, Cristiano; Pompili, Enrico; Silvestrini, Cristiana; Nicolò, Giuseppe

    2016-01-01

    Turner syndrome (TS) is a neurogenetic disorder characterized by partial or complete monosomy-X, usually resulting of a sporadic chromosomal nondisjunction. It is one of the most common sex chromosome abnormalities, affecting approximately 1 in 2,000 live born females. There are sporadic few case reports of concomitant TS with schizophrenia worldwide. No defined psychiatric condition has been traditionally related to TS, and it is not mentioned in DSM-IV. Although it is not associated with any psychiatric syndrome, several case reports in the literature describe a similar constellation of symptoms in TS that may represent a biologically-based entity. Aripiprazole once-monthly is a second generation antipsychotic recently developed. Its efficacy and non-inferiority to oral aripiprazole have been demonstrated in preventing relapse in patients with schizophrenia. Experience with oral aripiprazole and the current availability of the long-acting formulation suggest a potential benefit in a variety of clinical scenarios and therefore consideration as a treatment option in the treatment of schizophrenia and psychotic symptoms in several disease like TS.

  3. Severe hemihypotrophy in a female infant with mosaic Turner syndrome: a variant of Russell-Silver syndrome?

    PubMed

    Li, Chumei C; Chodirker, Bernard N; Dawson, Angelika J; Chudley, Albert E

    2004-04-01

    Russell-Silver syndrome is a genetically heterogeneous condition. For most affected individuals, it represents a phenotype rather than a specific disorder. Although chromosomal anomalies, imprinting disorder, maternal uniparental disomy 7 as well as familial autosomal dominant and X-linked forms have been reported, the diagnosis remains determined on clinical grounds. Russell-Silver syndrome is characterized by asymmetric intrauterine growth retardation, postnatal failure to thrive, distinct facial features, limb asymmetry, excessive sweating and minor skin lesions. We report here a female infant who had a karyotype of 45,X on prenatal amniocytes. After delivery she was noted to have features not explainable on the basis of Turner syndrome. Her phenotype actually was quite consistent with Russell-Silver syndrome. She had a triangular face with prominent forehead, large eyes, a thin nose, malar hypoplasia, thin upper lip with down-turned corner of the mouth and a pointed chin. Marked body asymmetry was evident at birth, with the left side significantly smaller than the right side. She has a diphalangeal left fifth finger. Skin fibroblast culture and analysis showed a karyotype of 45,X on the right side and 45,X/46,XX on the left side. The case is another illustration of the genetic heterogeneity of Russell-Silver phenotype.

  4. Simultaneous Combined Myositis, Inflammatory Polyneuropathy, and Overlap Myasthenic Syndrome

    PubMed Central

    Magy, Laurent; Corcia, Philippe; Ghorab, Karima; Richard, Laurence; Ciron, Jonathan; Duchesne, Mathilde; Vallat, Jean-Michel

    2016-01-01

    Immune-mediated neuromuscular disorders include pathologies of the peripheral nervous system, neuromuscular junction, and muscles. If overlap syndromes (or the association of almost two autoimmune disorders) are recognized, the simultaneous occurrence of several autoimmune neuromuscular disorders is rare. We describe two patients presenting the simultaneous occurrence of inflammatory neuropathy, myositis, and myasthenia gravis (with positive acetylcholine receptor antibodies). For each patient, we carried out a pathological analysis (nerve and muscle) and an electrophysiological study (and follow-up). To our knowledge, this is the first description of such a triple immune-mediated neuromuscular syndrome. We compared our observations with a few other cases of simultaneous diagnosis of two inflammatory neuromuscular disorders. PMID:28044116

  5. Acetaminophen induced Steven Johnson syndrome-toxic epidermal necrolysis overlap.

    PubMed

    Khawaja, Ali; Shahab, Ahmed; Hussain, Syed Ather

    2012-05-01

    Steven Johnson Syndrome and Toxic Epidermal Necrolysis are rare but severe form of hypersensitivity inflammatory reactions to multiple offending agents including drugs. Acetaminophen is extensively used due to its analgesic and anti-pyretic properties. It is rendered to be relatively safe, with hepatotoxicity considered to be the major adverse effect. However, very few cases of Steven Johnson Syndrome and Toxic Epidermal Necrolysis have been reported with acetaminophen usage in the past. We present the case of a 40 years old lady who developed an overlap of the two condition after taking several doses of acetaminophen for fever. She presented with widespread maculopapular rash, stinging in the eyes, oral mucosal ulcerations and high grade fever. She was successfully treated with corticosteroid therapy along with the supportive treatment. This case addresses the fact, that severe hypersensitivity reactions can occur with acetaminophen which can be potentially life threatening.

  6. 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.

  7. Trisomy 13, 18, 21, Triploidy and Turner syndrome: the 5T’s. Look at the hands

    PubMed Central

    Witters, G.; Van Robays, J.; Willekes, C.; Coumans, A.; Peeters, H.; Gyselaers, W.; Fryns, J.P.

    2011-01-01

    First trimester spontaneous abortions occur in 15 to 20% of all clinically recognized pregnancies. Chromosomal anomalies are responsible for more than 50% of spontaneous abortions. The majority (90%) of these chromosomal anomalies are numerical, particularly autosomal trisomies (involving chromosomes 13,16, 18, 21, 22), polyploidy and monosomy X. At birth chromosomal anomalies are still an important cause of congenital malformations occurring in 0,55% of newborns (autosomal: 0,40%, sex chromosomal: 0,15%). Autosomal trisomies result from maternal meiotic nondisjunction of gametogenesis and the risk increases with maternal age. Polyploidy (triploidy (3n = 69) or tetraploidy (4n = 92)), results from a contribution of one or more extra haploid chromosome sets at fertilization. Unlike the risk for autosomal trisomies, the risk for polyploidies and for monosomy X (Turner syndrome) does not increase with maternal age. In the prenatal period the ultrasonographic diagnosis of some autosomal trisomies such as trisomy 13 and 18 is feasible based on the frequently seen major malformations while the diagnosis of trisomy 21 often remains challenging due to the absence of major malformations in > 50% of cases. For Turner syndrome (monosomy X), the lethal form will present with cystic hygroma colli and hydrops but the non lethal form is difficult to recognize by ultrasound in the second trimester. The 5 frequently encountered chromosomal anomalies (Trisomy 13, 18, 21, Turner syndrome and Triploidy) referred here as the 5T’s have specific hand features which will be discussed. PMID:24753843

  8. Asthma, chronic obstructive pulmonary disease (COPD), and the overlap syndrome.

    PubMed

    Nakawah, Mohammad Obadah; Hawkins, Clare; Barbandi, Farouk

    2013-01-01

    Asthma and chronic obstructive pulmonary disease (COPD) are highly prevalent chronic diseases in the general population. Both are characterized by heterogeneous chronic airway inflammation and airway obstruction. In both conditions, chronic inflammation affects the whole respiratory tract, from central to peripheral airways, with different inflammatory cells recruited, different mediators produced, and thus differing responses to therapy. Airway obstruction is typically intermittent and reversible in asthma but is progressive and largely irreversible in COPD. However, there is a considerable pathologic and functional overlap between these 2 heterogeneous disorders, particularly among the elderly, who may have components of both diseases (asthma-COPD overlap syndrome). The definitions for asthma and COPD recommended by current guidelines are useful but limited because they do not illustrate the full spectrum of obstructive airway diseases that is encountered in clinical practice. Defining asthma and COPD as separate entities neglects a considerable proportion of patients with overlapping features and is largely based on expert opinion rather than on the best current evidence. The presence of different phenotypes or components of obstructive airway diseases, therefore, needs to be addressed to individualize and optimize treatment to achieve the best effect with the fewest side effects for the patient. Although specific interventions vary by disease, the treatment goals of obstructive airway diseases are similar and driven primarily by the need to control symptoms, optimize health status, and prevent exacerbations.

  9. X microchromosome with additional chromosome anomalies found in Ullrich-Turner syndrome

    SciTech Connect

    Wydner, K.L.; Sciorra, L.J.; Singer-Granick, C.

    1995-03-27

    Using standard cytogenetic methods coupled with molecular techniques, the following karyotype mos 45,X/46,XXq+/46,X-mar(X)/47,XXq+, +mar(X), was identified in a patient with Ullrich-Turner syndrome (UTS). High-resolution banding (n = 650) of the metaphase chromosomes yielded a breakpoint at q28 on the Xq+ rearranged chromosome. FISH was used to determine the presence of Y-containing DNA in the Xq+ and the mar(X) chromosomes. The following molecular probes were used: DYZ1, DYZ3, and spectrum orange WCP Y. The lack of specific hybridization of these probes was interpreted as a low risk of gonadoblastoma in this patient. Using X-chromosome- and centromere-specific probes, FISH demonstrated the presence of hybridizing material on both rearranged chromosomes, the Xq+ and mar(X). Finally, we determined that the mar(X) and Xq+ chromosomes contained telomeres in the absence of any interstitial telomeric hybridizing material. A micro-X chromosome is present in this UTS patient. Delineation of events leading toward the mechanisms responsible for the multiple DNA rearrangements required to generate the micro-X and Xq+ chromosomes awaits future studies. 25 refs., 6 figs., 1 tab.

  10. Altered inorganic composition of dental enamel and dentin in primary teeth from girls with Turner syndrome.

    PubMed

    Rizell, Sara; Kjellberg, Heidrun; Dietz, Wolfram; Norén, Jörgen G; Lundgren, Ted

    2010-04-01

    In Turner syndrome (TS) one X-chromosome is missing or defective. The amelogenin gene, located on the X-chromosome, plays a key role during the formation of dental enamel. The aim of this study was to find support for the hypothesis that impaired expression of the X-chromosome influences mineral incorporation during amelogenesis and, indirectly, during dentinogenesis. Primary tooth enamel and dentin from girls with TS were analysed and compared with the enamel and dentin of primary teeth from healthy girls. Qualitative and quantitative changes in the composition of TS enamel were found, in addition to morphological differences. Higher frequencies of subsurface lesions and rod-free zones were seen in TS enamel using polarized light microscopy. Similarly, scanning electron microscopy showed that the enamel rods from TS teeth were of atypical sizes and directions. Using X-ray microanalysis, high levels of calcium and phosphorus, and low levels of carbon, were found in both TS enamel and dentin. Using microradiography, a lower degree of mineralization was found in TS enamel. Rule induction analysis was performed to identify characteristic element patterns for TS. Low values of carbon were the most critical attributes for the outcome TS. The conclusion was that impaired expression of the X-chromosome has an impact on dental hard tissue formation.

  11. Body composition and bone mineral status in patients with Turner syndrome

    PubMed Central

    Shi, Kun; Liu, Li; He, Yao-Juan; Li, Duan; Yuan, Lian-Xiong; Lash, Gendie E.; Li, Li

    2016-01-01

    Turner syndrome (TS) is associated with decreased bone mineral density and increased fracture rate. However, the developmental trajectory of bone density or body composition in patients with TS is still unclear. The present study tested the hypothesis that different karyotypes and/or age contributes to abnormal body composition and decreased bone mineral status parameters in patients with TS. This study included 24 girls with TS, in which 13 girls exhibited X0 karyotype and 11 had mosaicism. Quantitative ultrasound (QUS) assessed the bone mineral status of the calcaneus, including bone mineral density (BMD), amplitude-dependent speed of sound (AD-SOS), broadband ultrasound attenuation (BUA) and InBody 770 assessed body composition. Pearson’s test was performed to correlate measured parameters with patient age. The body composition and bone mineral status parameters were not significantly influenced by patient karyotype. There was a correlation between patient age and AD-SOS (r = −0.61, P = 0.002) and BUA (r = 0.50, P = 0.013) but not BMD (r = −0.19, P = 0.379). In conclusion, there was no effect of karyotype on body composition or body mineral status. Bone mineral status, as evidenced by changes in AD-SOS and BUA, alters with age regardless of karyotype. The developmental trajectory demonstrated in the current study warrants further validation in a longitudinal study. PMID:27901060

  12. 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.

  13. 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.

  14. Molecular detection of cryptic Y-chromosomal material in patients with Turner syndrome.

    PubMed

    Cortés-Gutiérrez, Elva I; Herrera-Bartolo, Rosalba; Dávila-Rodríguez, Martha I; Palacios-Saucedo, Gerardo C; Vargas-Villarreal, Javier; Romero-Villarreal, Juana B

    2012-10-01

    A systematic search for a hidden Y-chromosome mosaicism, in Turner syndrome (TS) patients is justified by the evaluation of the risk of development of germ cell tumors. In this study, we analyzed cryptic Y-chromosome derivatives by polymerase chain reaction (PCR) coupled with fluorescence in situ hybridization (FISH) using Y-specific sequences in patients with TS, and validated this methodology. Unrelated patients with TS (n=32) of Mexican mestizo ethnic origin were diagnosed using cytogenetic analysis. Clinical assessment, endocrine evaluation, karyotyping, FISH and PCR analysis of the Y-chromosomal loci were performed. We found that 9.4% (3 out of 32) patients with TS had Y-chromosome material. Two patients showed Y-chromosome by conventional cytogenetics. One patient had no Y-chromosome by initial karyotyping (45, X) but was positive by lymphocyte PCR DNA analysis of the Y-sequence-specific sex-determining region Y (SRY) gene. Our results suggest that the detection of the Y-chromosome material using sensitive methods, such as PCR coupled with FISH, should be carried out in all patients with TS and should not be limited to TS patients with cytogenetically identifiable Y-chromosome and/or virilization.

  15. Leukemias associated with Turner syndrome: report of three cases and review of the literature.

    PubMed

    Manola, Kalliopi N; Sambani, Constantina; Karakasis, Dimitris; Kalliakosta, Georgia; Harhalakis, Nicholas; Papaioannou, Maria

    2008-03-01

    Cases of leukemia associated with Turner syndrome (TS) are rare. Here we report three TS patients with leukemia including one case of T-large granular lymphocyte leukemia (T-LGL), one rare case of coexistence of chronic lymphocytic leukemia (CLL) and idiopathic myelofibrosis (IMF) and one case of a patient with AML-M2 who received autologous stem cell transplantation (SCT). T-LGL and coexistence of CLL and IMF associated with TS are reported for the first time while the last case represents the first report of SCT in a leukemia patient with TS. Our cases and the limited data of previously reported leukemia patients with TS suggest that TS is not associated with a specific type of leukemia and that presentation, clinical course and response to treatment are similar to that of the non-TS leukemia patients. However, these patients may have a higher risk of liver complications. Interestingly, in the mosaic TS patients, the abnormal clones were restricted to the monosomic 45,X cells, indicating that the leukemic clones possibly originate from the monosomic cell line. Even in cases with no additional chromosome abnormalities, the ratio of X/XX cells in bone marrow cells was significantly increased compared to that in constitutional karyotype, indicating that monosomic cells possibly provide a survival advantage for leukemia cells or that reduced programmed cell death may be responsible for the expansion of the monosomic cells.

  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. Single Nucleotide Polymorphism Array Genotyping is Equivalent to Metaphase Cytogenetics for Diagnosis of Turner Syndrome

    PubMed Central

    Prakash, Siddharth; Guo, Dongchuan; Maslen, Cheryl L.; Silberbach, Michael; Investigators, GenTAC; Milewicz, Dianna; Bondy, Carolyn A.

    2013-01-01

    Background Turner syndrome (TS) is a developmental disorder caused by partial or complete monosomy for the X chromosome in 1:2500 females. We hypothesized that single nucleotide polymorphism (SNP) array genotyping can provide superior resolution in comparison to metaphase karyotype analysis to facilitate genotype-phenotype correlations. Methods We genotyped 187 TS patients with 733,000 SNP marker arrays. All cases met diagnostic criteria for TS based on karyotypes (60%) or characteristic physical features. SNP array results confirmed the diagnosis of TS in 100% of cases. Results We identified a single X chromosome (45,X) in 113 cases. In 58 additional cases (31%), other mosaic cell lines were present including isochromosomes (16%), rings (5%) and Xp deletions (8%). The remaining cases were mosaic for monosomy X and normal male or female cell lines. Array-based models of X chromosome structure were compatible with karyotypes in 104 of 116 comparable cases (90%). We found that SNP array data did not detect X;autosome translocations (3 cases), but did identify 2 derivative Y chromosomes and 13 large copy number variants that were not detected by karyotyping. Conclusions Our data is the first systematic comparison between the two methods and supports the utility of SNP array genotyping to address clinical and research questions in TS. PMID:23743550

  18. Turner syndrome: review of clinical, neuropsychiatric, and EEG status: an experience of tertiary center.

    PubMed

    Saad, Khaled; Abdelrahman, Ahmed A; Abdel-Raheem, Yasser F; Othman, Essam R; Badry, Reda; Othman, Hisham A K; Sobhy, Karema M

    2014-03-01

    We reviewed the clinical, neuropsychiatric, and EEG status of 53 turner syndrome (TS) females, aged 3-16 years, in Assiut university hospitals, Upper Egypt. The diagnosis and care of patients with TS in Egypt is still in the developing stage. Hence this study was undertaken to review the details of patients with TS with respect to the pattern of cognitive, psychiatric, and motor dysfunction. We aimed to provide a comprehensive data about the experience of our center comparable to previous studies, which have been published in this field. This will contribute to a better definition of the neuropsychiatric features that may be specific to TS that allows early and better detection and management of these cases. We found FSIQ and verbal IQ that seem to be at a nearly normal level and a decreased performance IQ. ADHD and autistic symptoms were found in 20.70 and 3.77 % of our cohort, respectively. The motor performance in TS was disturbed, with some neurological deficits present in 17 % (reduced muscle tone and reduced muscle power). In addition, females with TS in our study exhibit social and emotional problems, including anxiety (5.66 %) and depression (11.30 %). The EEG results revealed abnormalities in seven patients (13.20 %). One patient presenting with generalized tonic-clonic seizures showed generalized epileptiform activity, and six patients presenting with intellectual disabilities showed abnormal EEG background activity.

  19. Selenium Status in Patients with Turner Syndrome: a Biochemical Assessment Related with Body Composition.

    PubMed

    Pires, Liliane Viana; Siviero-Miachon, Adriana Aparecida; Spinola-Castro, Angela Maria; Pimentel, José Alexandre Coelho; Nishimura, Luciana Sigueta; Maia, Carla Soraya Costa; Cozzolino, Silvia Maria Franciscato

    2017-04-01

    Studies about selenium status in patients with Turner syndrome (TS) are non-existent in the literature. The aim of this study was to evaluate selenium status in patients with TS, while considering the different ages of the studied population and the relation with body composition. In total, 33 patients with TS were evaluated and grouped according to their developmental stages (children, adolescents, and adults). Selenium concentrations in their plasma, erythrocytes, urine, and nails were determined by using hydride generation atomic absorption spectrometry and erythrocyte glutathione peroxidase activity were measured by using Randox commercial kits. Additionally, height, weight, body fat percentage, waist circumference, and waist-height ratio were measured to characterize the patients. No differences in the selenium concentrations in the plasma, erythrocyte, urine, and nails or in the glutathione peroxidase activity were observed among the age groups (p > 0.05). The evaluated selenium levels were less than the established normal ones. The patients with larger waist circumference, body fat percentage, body mass index, and waist-height ratio showed lower glutathione peroxidase enzyme activity (p = 0.023). The present study shows that most patients with TS are deficient in selenium and that those with a greater accumulation of body fat have a lower GPx activity.

  20. Detection of low level sex chromosome mosaicism in Ullrich-Turner syndrome patients.

    PubMed

    Wiktor, Anne E; Van Dyke, Daniel L

    2005-10-15

    Ullrich-Turner syndrome (UTS) is most commonly due to a 45,X chromosome defect, but is also seen in patients with a variety of X-chromosome abnormalities or 45,X/46,XY mosaicism. The phenotype of UTS patients is highly variable, and depends largely on the karyotype. Patients are at an increased risk of gonadoblastoma when a Y-derived chromosome or chromosome fragment is present. Since constitutional mosaicism is present in approximately 50% of UTS patients, the identification of minor cell populations is clinically important and a challenge to laboratories. We identified 50 females with a 45,X karyotype as the sole abnormality or as part of a more complex karyotype. Twenty two (44%) had a 45,X karyotype; mosaicism for a second normal or structurally abnormal X was observed in 24 (48%) samples, and mosaicism for Y chromosomal material in 4 (8%) cases. To further investigate the possibility of mosaicism in the 22 patients with an apparently non-mosaic 45,X karyotype, we performed FISH using centromere probes for the X and Y chromosomes. A minor XX cell line was identified in 3 patients, and the 45,X result was confirmed in 19 samples. No samples with XY mosaicism were identified. We describe our validation process for a FISH assay to be used in clinical practice to identify XX or XY mosaicism. FISH as an adjunct to karyotype analysis provides a sensitive and cost-effective technique to identify sex chromosome mosaicism in UTS patients.

  1. Influence of the X-chromosome on neuroanatomy: evidence from Turner and Klinefelter syndromes.

    PubMed

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

    2014-03-05

    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.

  2. 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.

  3. Abnormal aortic arch morphology in Turner syndrome patients is a risk factor for hypertension.

    PubMed

    De Groote, Katya; Devos, Daniël; Van Herck, Koen; Demulier, Laurent; Buysse, Wesley; De Schepper, Jean; De Wolf, Daniël

    2015-09-01

    Hypertension in Turner syndrome (TS) is a multifactorial, highly prevalent and significant problem that warrants timely diagnosis and rigorous treatment. The objective of this study was to investigate the association between abnormal aortic arch morphology and hypertension in adult TS patients. This was a single centre retrospective study in 74 adult TS patients (age 29.41 ± 8.91 years) who underwent a routine cardiac MRI. Patients were assigned to the hypertensive group (N = 31) if blood pressure exceeded 140/90 mmHg and/or if they were treated with antihypertensive medication. Aortic arch morphology was evaluated on MRI images and initially assigned as normal (N = 54) or abnormal (N = 20), based on the curve of the transverse arch and the distance between the left common carotid-left subclavian artery. We additionally used a new more objective method to describe aortic arch abnormality in TS by determination of the relative position of the highest point of the transverse arch (AoHP). Logistic regression analysis showed that hypertension is significantly and independently associated with age, BMI and abnormal arch morphology, with a larger effect size for the new AoHP method than for the classical method. TS patients with hypertension and abnormal arch morphology more often had dilatation of the ascending aorta. There is a significant association between abnormal arch morphology and hypertension in TS patients, independent of age and BMI, and not related to other structural heart disease. We suggest that aortic arch morphology should be included in the risk stratification for hypertension in TS and propose a new quantitative method to express aortic arch morphology.

  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.

  5. X-Chromosome Gene Dosage and the Risk of Diabetes in Turner Syndrome

    PubMed Central

    Bakalov, Vladimir K.; Cheng, Clara; Zhou, Jian; Bondy, Carolyn A.

    2009-01-01

    Background: Turner syndrome (TS) is caused by the absence or fragmentation of the second sex chromosome. An increased risk of diabetes mellitus (DM) has consistently been noted, but the specific phenotype and genetic etiology of this trait are unknown. Methods: In a prospective study, we examined the prevalence of DM in adult participants in an intramural National Institutes of Health (NIH) TS study. Results were analyzed with respect to karyotype, age, body mass index (BMI), and autoimmune indices. Insulin sensitivity and secretion were compared in age- and BMI-matched euglycemic women with TS and healthy female controls. We compared gene expression profiles in lymphocytes from differentially affected TS groups. Results: Type 2 DM was present in 56 of 224 (25%) of the women with TS; type 1 DM was found in only one woman (<0.5%). DM was more prevalent among women with an isoXq chromosome compared to X monosomy (40.0 vs. 17.3%; P = 0.004). Euglycemic women with TS (n = 72; age, 33 ± 12 yr; BMI, 23 ± 3 kg/m2) had significantly higher glycemic and lower insulin responses to OGTT, with insulin sensitivity similar to controls. Gene expression profiles comparing 46,X,i(X)q vs. 45,X groups showed a significant increase in Xq transcripts and in potentially diabetogenic autosomal transcripts in the isoXq group. Conclusion: Type 2 DM associated with deficient insulin release is significantly increased among women with monosomy for the X-chromosome but is increased even more among women with monosomy for Xp coupled with trisomy for Xq. These data suggest that haploinsufficiency for unknown Xp genes increases risk for DM and that excess dosage of Xq genes compounds the risk. PMID:19567529

  6. Prenatal diagnosis of female monozygotic twins discordant for Turner syndrome: implications for prenatal genetic counselling.

    PubMed

    Gilbert, B; Yardin, C; Briault, S; Belin, V; Lienhardt, A; Aubard, Y; Battin, J; Servaud, M; Philippe, H J; Lacombe, D

    2002-08-01

    We describe a set of monozygotic (MZ) female twins, one of whom presented with a typical Turner syndrome (TS) phenotype and the other a normal female phenotype. Prenatal fetal ultrasonographic examination showed a monochorial diamniotic pregnancy with a hygroma colli and growth delay in Twin A and no anomalies in Twin B. Karyotypic analysis performed on fetal blood samples demonstrated a 46,XX/45,X (23/2) mosaicism in Twin A and a normal 46,XX chromosome constitution in Twin B. At birth, Twin A presented with a typical TS and Twin B had a normal female phenotype. Postnatal cytogenetic investigation of blood lymphocytes showed the same 46,XX/45,X mosaicism in both twins: 46,XX/45,X (40/7) in Twin A and 46,XX/45,X (40/5) in Twin B. Further investigations at the age of 10 months showed in Twin A a 46,XX/45,X (98/2) mosaicism in lymphocytes and 100% of 45,X (50 analysed cells) in fibroblasts, and in Twin B a normal 46,XX (100 analysed cells) chromosome constitution in lymphocytes but a mild 46,XX/45,X (78/2) mosaicism in fibroblasts. Monozygosity was confirmed by molecular analysis. To our knowledge, this is the first report of prenatal diagnosis of MZ female twins discordant for TS. Review of reported sets of MZ female twins (eight cases) or triplets (one case) discordant for TS shows, as in the present case, that the phenotype correlates better with the chromosomal distribution of mosaicism in fibroblasts than in lymphocytes. In the blood of MZ twins chimerism may modify the initial allocation of the mosaicism. These results suggest that, in cases of prenatal diagnosis of MZ female twins discordant for TS, the phenotype of each twin would be better predicted from karyotype analysis of cells from amniotic fluid than from fetal blood.

  7. Turner Syndrome Genotype and phenotype and their effect on presenting features and timing of Diagnosis

    PubMed Central

    Al Alwan, I; M, Khadora; Amir; G, Nasrat; A, Omair; L, Brown; M, Al Dubayee; M, Badri

    2014-01-01

    Background Turner syndrome (TS) is a common genetic disorder caused by abnormalities of the X chromosome. We aimed to describe the phenotypic characteristics of TS patients and evaluate their association with presenting clinical characteristics and time at diagnosis. Methods We studied females diagnosed with TS at King Abdul Aziz Medical City (KAMC), Riyadh between 1983 and 2010. Patients were classified based upon karyotype into females with classical monosomy 45,X (group A) and females with other X chromosome abnormalities (mosaic 45,X/46,XX, Xqisochromosomes, Xp or Xq deletion) (group B). Clinical features of the two groups were analyzed. Results Of the 52 patients included in the study, 16(30.8%) were diagnosed with classical monosomy 45,X and the rest with other X chromosome abnormalities. Only 19(36.5%) patients were diagnosed in infancy and the remaining during childhood or later (odds ratio (OR) = 4.5,95%CI 1.27–15.90, p=0.02). Short stature was universal in group A versus 77.8% in group B. All patients in group A had primary amenorrhea compared with 63.2% of those in group B (P = 0.04); the rest of group B had secondary amenorrhea. Cardiovascular abnormalities were higher in group A (OR=3.50, 95%CI 0.99–12.29, p-value =0.05). Renal defects and recurrent otitis media were similar in both groups. Conclusion This study suggests that karyotype variations might affect the phenotype of TS; however, it may not reliably predict the clinical presentation. Chromosomal analysis for all suspected cases of TS should be promptly done at childhood in order to design an appropriate management plan early in life. PMID:25246887

  8. Growth Hormone Treatment Increases Plasma Irisin Concentration in Patients with Turner Syndrome.

    PubMed

    Wikiera, B; Zawadzka, K; Łaczmański, Ł; Słoka, N; Bolanowski, M; Basiak, A; Noczyńska, A; Daroszewski, J

    2017-02-01

    Irisin (Ir) deficiency may be a contributing factor in metabolic disease. This study aimed to investigate the effect of supraphysiological doses of recombinant human growth hormone (rhGH) on Ir plasma concentration in relation to metabolic disorders, including obesity and other components of metabolic syndrome. We studied 36 girls with Turner syndrome (mean age 8.2 years) treated with rhGH (0.05 mg/kg/day). Anthropometric data and fasting blood levels [e. g., Ir, insulin, glucose, glycated hemoglobin (HbA1c), IGF-1, IGFBP-3, cholesterol, insulin resistance (HOMA-IR), and β-cell function (HOMA-β)] were analyzed prior to and following rhGH therapy [mean (SD) follow-up of 1.47 (0.89) years]. Insulin sensitivity (Matsuda index) was calculated before and after the glucose load. Following rhGH therapy, an increase in IGF-1 [mean (SD) of 119.40 (62.47) ng/ml to 439.08 (209.91) ng/ml, p=0.000], Ir [2.10 (1.03) μg/ml to 2.48 (0.78) μg/ml, p=0.036], HOMA-IR [median (IQR) of 0.64 (0.45-1.30) to 0.92 (0.67-2.36), p=0.0206], and HOMA-β values [45.00 (27.69-72.00) to 81.53 (51.43-132.00), p=0.0447] were observed. Multiple regression analysis yielded no associations between Ir and metabolic and hormonal parameters before rhGH treatment; however, on rhGH, the model (R(2)=0.56, adjusted R(2=)0.45) showed positive associations between Ir and IGF-1 standard deviation score and HbA1c, and negative associations between Ir and fasting blood glucose, HDL-cholesterol, and triglycerides. Despite manifestation of insulin resistance, rhGH application had a positive effect on Ir regulation, and restored physiological conditions of lipid and glucose metabolism.

  9. 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.

  10. Understanding asthma-chronic obstructive pulmonary disease overlap syndrome.

    PubMed

    Wurst, Keele E; Kelly-Reif, Kaitlin; Bushnell, Greta A; Pascoe, Steven; Barnes, Neil

    2016-01-01

    Asthma-chronic obstructive pulmonary disease overlap syndrome (ACOS) is a loosely-defined clinical entity referring to patients who exhibit characteristics of both asthma and chronic obstructive pulmonary disease (COPD). Clinical definitions and classifications for ACOS vary widely, which impacts our understanding of prevalence, diagnosis and treatment of the condition. This literature review was therefore conducted to characterize the prevalence of ACOS and the effect of different disease definitions on these estimates, as this has not previously been explored. From an analysis of English language literature published from 2000 to 2014, the estimated prevalence of ACOS ranges from 12.1% to 55.2% among patients with COPD and 13.3%-61.0% among patients with asthma alone. This variability is linked to differences in COPD and asthma diagnostic criteria, disease ascertainment methods (spirometry-based versus clinical or symptom-based diagnoses and claims data), and population characteristics including age, gender and smoking. Understanding the reasons for differences in prevalence estimates of ACOS across the literature may help guide decision making on the most appropriate criteria for defining ACOS and aid investigators in designing future ACOS clinical studies aimed at effective treatment.

  11. 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

  12. Assessment of the 21-hydroxylase deficiency and the adrenal functions in young females with Turner syndrome.

    PubMed

    Onder, Asan; Aycan, Zehra; Cetinkaya, Semra; Kendirci, Havva Nur Peltek; Bas, Veysel Nijat; Agladioglu, Sebahat Yilmaz

    2012-01-01

    There are few reports of an association between Turner syndrome (TS) and 21-hydroxylase deficiency. However, this association is more frequent in some populations. The aim of this study was to evaluate the incidence of 21-hydroxylase deficiency in patients with TS in our population. 21-hydroxylase deficiency was evaluated in 44 TS cases with 45X (n=20) and 24 mosaic cases. A standard dose adrenocorticotropic (ACTH) stimulation test (Synacthen, Novartis, Basel, Switzerland) was performed, and 17 hydroxyprogesterone (17OHP), dehydroepiandrosterone sulfate (DHEAS) and cortisol responses were evaluated. Patients with increased 17OHP responses in the stimulation test also underwent 21-hydroxylase gene analysis. The mean age was 14.6 +/- 4 (2.6-22.4); 37 patients were on growth hormone (GH) treatment. Nine patients were at prepubertal stage, whereas 35 were pubertal (24 on gonadal steroids and 11 spontaneously). Six patients were obese. Only one of our patients had a level of 7.5 ng/mL of 17OHP, and there was no mutation found in congenital adrenal hyperplasia (CAH) genetic analysis. In other cases, peak 17OHP levels were < or = 6 ng/mL. The mean peak 17OHP was 2.62 +/- 1.48 (1.19-7.5) ng/mL, the cortisol level was 37.6 +/- 8.43 (23.9-56.2) microg/dL and the DHEAS was 135.2+/- 87.3 (15-413) microg/dL. The increased mean basal and peak cortisol levels (20.5 +/- 10.2 and 37.6 +/- 8.4 microg/dL) were remarkable findings. Whereas basal cortisol was above 20 microg/dL in 38.7% of patients, exaggerated results up to 56.2 microg/dL were obtained in peak cortisol levels. The basal and peak 17OHP cortisol levels were not correlated with the presence of puberty, chromosome structure, gonadal steroid use, obesity or growth hormone use. This trial suggested that 21-hydroxylase deficiency was not common among patients with TS in our population. Adrenal function should be assessed, at least in the presence of clitoral enlargement in patients with TS, particularly if their karyotype

  13. 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

  14. Characterization of sputum biomarkers for asthma–COPD overlap syndrome

    PubMed Central

    Gao, Jing; Iwamoto, Hiroshi; Koskela, Jukka; Alenius, Harri; Hattori, Noboru; Kohno, Nobuoki; Laitinen, Tarja; Mazur, Witold; Pulkkinen, Ville

    2016-01-01

    Asthma–COPD overlap syndrome (ACOS) is a commonly encountered chronic airway disease. However, ACOS is still a consensus-based clinical phenotype and the underlying inflammatory mechanisms are inadequately characterized. To clarify the inflammatory mediatypical for ACOS, five biomarkers, namely interleukin (IL)-13, myeloperoxidase (MPO), neutrophil gelatinase-associated lipocalin (NGAL), chitinase-like protein (YKL-40), and IL-6, were selected. This study hypothesized that sputum biomarkers relevant for airway inflammation in asthma (IL-13), COPD (MPO, NGAL), or in both asthma and COPD (YKL-40, IL-6) could be used to differentiate ACOS from COPD and asthma. The aim of this study was to characterize the inflammatory profile and improve the recognition of ACOS. Induced sputum levels of IL-13, MPO, NGAL, YKL-40, and IL-6 were measured by enzyme-linked immunosorbent assay/Luminex assay in a Finnish discovery cohort (n=90) of nonsmokers, smokers, and patients with asthma, COPD, and ACOS and validated in a Japanese cohort (n=135). The classification accuracy of potential biomarkers was compared with area under the receiver operating characteristic curves. Only sputum NGAL levels could differentiate ACOS from asthma (P<0.001 and P<0.001) and COPD (P<0.05 and P=0.002) in the discovery and replication cohorts, respectively. Sputum NGAL levels were independently correlated with the percentage of pre-bronchodilator forced expiratory volume in 1 second predicted in multivariate analysis in the discovery and replication cohorts (P=0.001 and P=0.002, respectively). In conclusion, sputum biomarkers reflecting both airway inflammation and remodeling of the tissue show potential in differentiation between asthma, COPD, and ACOS. PMID:27757028

  15. Unique unbalanced X;X translocation (Xq22;p11.2) in a woman with primary amenorrhea but without Ullrich-Turner syndrome

    SciTech Connect

    Letterie, G.S.

    1995-12-04

    This is a report of a patient with delayed puberty and a previously unreported translocation 46,X,-X,+der(X),t(X;X) (q22;p11.2) without any manifestations of Ullrich-Turner syndrome. The relationship of this unbalanced translocation to the critical region hypothesis is discussed. 6 refs., 3 figs.

  16. Unique unbalanced X;X translocation (Xq22;p11.2) in a woman with primary amenorrhea but without Ullrich-Turner syndrome.

    PubMed

    Letterie, G S

    1995-12-04

    This is a report of a patient with delayed puberty and a previously unreported translocation 46,X -X, +der(X),t(X;X) (q22;p11.2) without any manifestations of Ullrich-Turner syndrome. The relationship of this unbalanced translocation to the critical region hypothesis is discussed.

  17. The proportion of cells with functional X disomy is associated with the severity of mental retardation in mosaic ring X Turner syndrome females.

    PubMed

    Kubota, T; Wakui, K; Nakamura, T; Ohashi, H; Watanabe, Y; Yoshino, M; Kida, T; Okamoto, N; Matsumura, M; Muroya, K; Ogata, T; Goto, Y; Fukushima, Y

    2002-01-01

    Turner syndrome females (45,X) do not have mental retardation (MR), whereas some mosaic ring X Turner syndrome females, with 45,X/46,X,r(X), have severe MR. The MR is believed to be caused by a failure of X chromosome inactivation (XCI) of the small ring X chromosome, which leads to functional X disomy (FXD), To explore this hypothesis, we examined the proportion of FXD cells in the peripheral blood of four ring X Turner syndrome females with various levels of MR, using two newly developed XCI assays based on DNA methylation of X-linked genes. As a result, the two patients with extremely severe MR showed complete FXD patterns, whereas the remaining two patients with relatively milder MR showed partial FXD patterns. These results indicate that the proportion of FXD cells may be associated with the severity of MR in mosaic ring X Turner syndrome females, although this association should be confirmed by examining brain cells during development. One of the cases with severe MR and a complete FXD pattern neither lacked the XIST gene nor had uniparental X isodisomy, and we discuss the mechanism of the failure of XCI in this case.

  18. Parsonage-Turner syndrome and a localised swelling around the extensor tendons of the hand: a clinical sign indicating increased risk of rupture of the tendon.

    PubMed

    Vedung, Torbjörn

    2012-10-01

    Two patients presented with intense pain in the shoulder followed by weakness and paralysis of muscles in the shoulder and arm, together with a peculiar swelling on the hand. The swelling seems to predispose to rupture of the extensor tendon. If this tumour is a regular finding in Parsonage-Turner syndrome, it may also help in making a definitive diagnosis.

  19. Primary biliary cirrhosis--autoimmune hepatitis overlap syndrome associated with dermatomyositis, autoimmune thyroiditis and antiphospholipid syndrome.

    PubMed

    Pamfil, Cristina; Candrea, Elisabeta; Berki, Emese; Popov, Horațiu I; Radu, Pompilia I; Rednic, Simona

    2015-03-01

    Autoimmune liver diseases may be associated with extrahepatic autoimmune pathology. We report the case of a 52-year old woman who initially presented to the gastroenterology department for extreme fatigue, pale stools, dark urine and pruritus. Laboratory tests showed significant cholestasis and elevation of aminotransferase levels. Immunological tests revealed positive antinuclear (ANA=1:320) and antimitochondrial antibodies (AMA=1:40) with negative anti-smooth muscle and liver kidney microsomal type 1 antibodies. The biopsy was compatible with overlap syndrome type 1. The patient was commenced on immunosuppressive therapy according to standard of care (azathioprine 50mg, ursodeoxycholic acid and prednisone 0.5mg/kg), with moderate biochemical improvement. She subsequently developed proximal symmetrical weakness and cutaneous involvement and was diagnosed with biopsy-proven dermatomyositis. The immunosuppressive regimen was intensified to 150 mg azathioprine. At the three-month follow-up, her symptoms subsided and aminotransferases and muscle enzymes normalized. Upon further investigation the patient was diagnosed with autoimmune thyroiditis and antiphospholipid syndrome. To our knowledge, this is the first case of primary biliary cirrhosis - autoimmune hepatitis overlap syndrome associated with dermatomyositis, autoimmune thyroiditis and antiphospholipid syndrome.

  20. Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis.

    PubMed

    Killoran, C E; Abbott, M; McKusick, V A; Biesecker, L G

    2000-07-01

    The polydactyly, imperforate anus, vertebral anomalies syndrome (PIV, OMIM 174100) was determined as a distinct syndrome by Say and Gerald in 1968 (Say B, Gerald PS. Lancet 1968: 2: 688). We noted that the features of PIV overlap with the VATER association and Pallister-Hall syndrome (PHS, OMIM 146510), which includes polydactyly, (central or postaxial), shortened fingers, hypoplastic nails, renal anomalies, imperforate anus, and hypothalamic hamartoma. Truncation mutations in GL13, a zinc finger transcription factor gene, have been shown to cause PHS. We performed a molecular evaluation on a patient diagnosed with PIV, whose mother, grandfather, and maternal aunt had similar malformations. We sequenced the GLI3 gene in the patient to determine if she had a mutation. The patient was found to have a deletion in nucleotides 2188-2207 causing a frameshift mutation that predicts a truncated protein product of the gene. Later clinical studies demonstrated that the patient also has a hypothalamic hamartoma, a finding in PHS. We concluded that this family had atypical PHS and not PIV. This result has prompted us to re-evaluate the PIV literature to see if PIV is a valid entity. Based on these data and our examination of the literature, we conclude that PIV is not a valid diagnostic entity. We conclude that patients diagnosed with PIV should be reclassified as having VACTERL, or PHS, or another syndrome with overlapping malformations.

  1. Agenesis of the corpus callosum in Turner's syndrome: report of a case and review of the literature.

    PubMed

    Lee, Ying-Ying; Hung, June; Chang, Ting-Yu; Huang, Chin-Chang

    2008-09-01

    Turner's syndrome (TS) is a genetic disorder caused by loss of entire or a substantial part of the X-chromosome, but association with central nervous system (CNS) abnormalities is rarely reported. A 32-year-old female with TS was found to have agenesis of the corpus callosum (ACC) and various clinical features including coarctation of aorta, hypertelorism, small jaw, short and webbed neck, cubitus valgus, and absence of the uterus. Karyotype analysis revealed X monosomy cell line (45, X). There have been only three other cases of TS associated with ACC. High prenatal lethality of TS fetuses with congenital CNS malformations may decrease the incidence of this association. Neuropsychological studies showed a normal intelligence neither prominent learning disability nor discrepancy between verbal and non-verbal items.

  2. Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature

    PubMed Central

    Carlson, M; Silberbach, M

    2009-01-01

    Patients with Turner syndrome (TS) are at risk for aortic dissection, but the clinical profile for those at risk is not well described. In addition to reporting two new cases, we performed an electronic search to identify all reported cases of aortic dissection associated with TS. In total, 85 cases of aortic dissection in TS were reported between 1961 and 2006. Dissection occurred at a young age, 30.7 (range 4–64) years, which is significantly earlier than its occurrence in the general female population (68 years). Importantly, in 11% of the cases, neither hypertension nor congenital heart disease were identified, suggesting that TS alone is an independent risk factor for aortic dissection; however, the cases where no risk factors were identified were very poorly documented. A TS aortic dissection registry has been established to determine the natural history and risk factors better (http://www.turnersyndrome.org/). PMID:21731587

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

    PubMed Central

    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

  4. A Critical Appraisal of Growth Hormone Therapy in Growth Hormone Deficiency and Turner Syndrome Patients in Turkey

    PubMed Central

    Yavaş Abalı, Zehra; Darendeliler, Feyza; Neyzi, Olcay

    2016-01-01

    Early detection of abnormal growth, identification of the underlying cause, and appropriate treatment of the medical condition is an important issue for children with short stature. Growth hormone (GH) therapy is widely used in GH-deficient children and also in non-GH-deficient short stature cases who have findings conforming to certain indications. Efficacy of GH therapy has been shown in a multitude of short- and long-term studies. Age at onset of GH therapy is the most important factor for a successful treatment outcome. Optimal dosing is also essential. The aim of this review was to focus on challenges in the early diagnosis and appropriate management of short stature due to GH deficiency (GHD) and Turner syndrome. These are the most frequent two indications for GH therapy in Turkey approved by the Ministry of Health for coverage by the national insurance system. PMID:27354120

  5. 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.

  6. Overlap syndromes: the International Autoimmune Hepatitis Group (IAIHG) position statement on a controversial issue.

    PubMed

    Boberg, Kirsten Muri; Chapman, Roger W; Hirschfield, Gideon M; Lohse, Ansgar W; Manns, Michael P; Schrumpf, Erik

    2011-02-01

    Some patients present with overlapping features between disorders within the spectrum of autoimmune liver diseases (i.e. autoimmune hepatitis (AIH), primary biliary cirrhosis (PBC), and primary sclerosing cholangitis (PSC)) and are commonly classified as having an "overlap syndrome". Standardized definitions of "overlap syndromes" are lacking. The aim of this report by the International Autoimmune Hepatitis Group (IAIHG) is to evaluate if there are important reasons to classify conditions with overlapping features between autoimmune liver diseases as separate diagnostic entities. Definition of diagnostic criteria for overlap conditions can only be arbitrary. The IAIHG scoring system for diagnosis of AIH has been widely used to diagnose "overlap syndromes", but was not intended for such use and has not proven to be an efficient tool for this purpose. Some patients with overlapping features between a cholestatic and hepatitic disorder appear to benefit from treatment with a combination of ursodeoxycholic acid and immunosuppressants, but this strategy is not evidence-based, and it seems unjustified to define new diagnostic groups in this regard. The IAIHG suggests that patients with autoimmune liver disease should be categorized according to the predominating feature(s) as AIH, PBC, and PSC/small duct PSC, respectively, and that those with overlapping features are not considered as being distinct diagnostic entities. The IAIHG scoring system should not be used to establish subgroups of patients. Patients with PBC and PSC with features of AIH should be considered for immunosuppressive treatment. Due to the low prevalence of such "overlap syndromes", prospective interventional therapeutic trials cannot be expected in the foreseeable future.

  7. Dopa responsive dystonia with Turner's syndrome: clinical, genetic, and neuropsychological studies in a family with a new mutation in the GTP-cyclohydrolase I gene

    PubMed Central

    Nitschke, M; Steinberger, D; Heberlein, I; Otto, V; Muller, U; Vieregge, P

    1998-01-01

    A 26 year old woman with dopa responsive dystonia and cytogenetically confirmed Turner's syndrome had bilateral globus pallidus hypointensity on brain MRI. Among the living members of a five generation pedigree the patient's mother and the mother's sister also had dopa responsive dystonia; a maternal grandfather had senile parkinsonism, his niece isolated postural tremor. No other family member had Turner's syndrome. A new missense mutation in exon I of the gene of GTP-cyclohydrolase I was found in the three family members with dopa responsive dystonia. With levodopa substitution the patients with dopa responsive dystonia improved clinically as well as in quantitative tests on hand tapping, verbal and performance IQ, concept formation, and set shifting abilities.

 PMID:9647318

  8. Identification of a de novo inv dup(X)(pter--> q22) by multicolor banding in a girl with Turner syndrome.

    PubMed

    Burégio-Frota, P; Valença, L; Leal, G F; Duarte, A R; Bispo-Brito, A V S; Soares-Ventura, E M; Marques-Salles, T J; Nogueira, M T M C; Muniz, M T C; Silva, M L M; Hunstig, F; Liehr, T; Santos, N

    2010-04-27

    We report on a 23-year-old girl with short stature, short and wide neck, low posterior hairline, hypogonadism, underdeveloped breasts, infantile uterus, ovaries not visualized, and primary amenorrhea. Cytogenetic G-banding analysis revealed a mosaic karyotype of 46,X,dup(X)(q22)[35]/45,X[15], confirming the clinical suspicion of Turner syndrome. Molecular cytogenetics using a multicolor banding probe set for the X-chromosome characterized an inverted dup(X). The karyotype of the patient was therefore interpreted as 46,X,inv dup(X) (pter --> q22::q22 --> pter). This patient had a mosaic Turner syndrome with a cell line comprising partial trisomy Xpter to Xq22 and partial monosomy Xq22 to Xqter.

  9. [Mosaic isochromosome Xq and microduplication 17p13.3p13.2 in a patient with Turner syndrome and congenital cataract].

    PubMed

    Rojas Martínez, Jorge A; Acosta Guio, Johanna C

    2015-01-01

    The combination of Turner syndrome with other genetic disorders such as congenital cataract has been reported, but its association with a congenital form with autosomal dominant inheritance and incomplete penetrance has not been previously reported in the literature. There are no reports on its presentations with rearrangements on chromosome 17. We report the exceptional case of a 20 months old girl with a constellation of major and minor anomalies, diagnosed with mosaic Turner syndrome by isochromosome Xq associated with a microduplication 17p13.3p13.2, who also had bilateral congenital nuclear cataract autosomal dominant with incomplete penetrance. We reviewed in the literature the origin and cause of these genetic alterations and we provided an approach to the hypothesis of the pathogenesis of the association of two of these genetic disorders in the same patient.

  10. Innumerable Liver Masses in a Patient with Autoimmune Hepatitis and Primary Sclerosing Cholangitis Overlap Syndrome.

    PubMed

    Gharibpoor, Alireza; Mansour-Ghanaei, Fariborz; Sadeghi, Mahbobe; Gharibpoor, Faeze; Joukar, Farahnaz; Mavaddati, Sara

    2017-02-07

    BACKGROUND In patients with the diagnosis of autoimmune hepatitis (AIH), the presence of cholestatic features raise the possibility of an overlap syndrome with primary sclerosing cholangitis (PSC). Here, we present a unique case with AIH-PSC overlap syndrome and innumerable liver masses. CASE REPORT A 26-year-old man presented with generalized icterus. Based on the serological findings of hypergamainmunoglobulinemia and positive anti-nuclear antibody tests, together with an abnormal cholangiogram, he was diagnosed with overlap syndrome (AIH-PSC). Liver imaging revealed innumerable liver masses with a benign appearance in the pathological evaluation. To rule out the colon abnormalities that usually coexist with such liver masses, colonoscopy was performed and showed no significant changes. The liver masses were nonmalignant and were resolved after immunosuppressant therapy. CONCLUSIONS Because AIH-PSC overlap syndrome is rare, it is suggested that radiological evaluation of the biliary tree should be performed routinely in adults diagnosed with AIH to reduce the missed diagnosis of overlap syndrome and liver masses.

  11. Case report: a successful pregnancy outcome in a patient with non-mosaic Turner syndrome (45, X) via in vitro fertilization.

    PubMed

    Sugawara, Nobuo; Kimura, Yasuyuki; Araki, Yasuhisa

    2013-03-01

    We describe a successful pregnancy outcome in a patient with non-mosaic Turner syndrome (45, X) via in vitro fertilization. The patient achieved a second pregnancy at 35 years of age. The her blood lymphocyte karyotype was examined by G-band and FISH. Furthermore, cumulus cells and her elbow skin cells were evaluated via FISH. Non-mosaic Turner syndrome was determined by G-banding [100 % (50/50) 45, X]. Lymphocytes were shown as 478/500 (95.6 %) cells of X sex chromosome signal, 15/500 (3.0 %) cells of XXX signal, and 7/500 (1.4 %) cells of XX signal. The cumulus cells were mosaic: 152/260 (58.5 %) were X; 84/260 (32.3 %) were XXX, 20/260 (7.7 %) were XX, and 4/260 (1.5 %) were XY. Moreover, skin cells included a mosaic karyotype [47, XXX(29)/46, XX(1)]. We conclude that the collection of a large number of blood lymphocytes can reveal different mosaic patterns (X, XX and XXX) by FISH in spite of non-mosaic Turner syndrome.

  12. Turner syndrome and schizophrenia: a further hint for the role of the X-chromosome in the pathogenesis of schizophrenic disorders.

    PubMed

    Roser, Patrik; Kawohl, Wolfram

    2010-03-01

    Abnormalities of sex chromosomes are associated with various forms of neuropsychiatric disorders, such as schizophrenia. Turner syndrome occurs approximately threefold more frequently in female schizophrenics compared to the general female population. A single case is reported. We report on a case of a 41-year-old woman with Turner syndrome, schizophrenia, mental retardation, and hypothyroidism. A polymorphism of the HOPA gene within Xq13 termed HOPA(12bp) is associated with schizophrenia, mental retardation, and hypothyroidism. Interestingly, Xq13 is the X-chromosome region that contains the X-inactivation center and a gene escaping X-inactivation whose gene product may be involved in the X-inactivation process as well as in the pathogenesis of sex chromosome anomalies such as Turner syndrome. These genes that escape X-inactivation may produce their gene products in excess, influencing normal brain growth and differentiation. Our case gives a further hint for an involvement of the X-chromosome in the pathogenesis of schizophrenia.

  13. Orthostatic intolerance: postural orthostatic tachycardia syndrome with overlapping vasovagal syncope.

    PubMed

    Skerk, Vedrana; Pintarić, Hrvoje; Delić-Brkljacić, Diana; Popović, Zvonimir; Hećimović, Hrvoje

    2012-03-01

    A 28-year-old female with a history of situational syncope and a new-onset right sided hemiparesis is described. Tilt-up table test revealed the postural orthostatic tachycardia syndrome followed by vasovagal syncope. Neurological and internal medicine tests showed no particular disorders. The patient underwent autonomic physical training and the tilt-up test performed three months later showed improvement of the autonomic system in terms of lower heart beat rate of the postural orthostatic tachycardia syndrome and longer duration of the test. This case report describes longstanding idiopathic dysautonomia that can be improved by nonpharmacological treatment, while reminding that this medical condition may also be the cause of syncope.

  14. Innumerable Liver Masses in a Patient with Autoimmune Hepatitis and Primary Sclerosing Cholangitis Overlap Syndrome

    PubMed Central

    Gharibpoor, Alireza; Mansour-Ghanaei, Fariborz; Sadeghi, Mahbobe; Gharibpoor, Faeze; Joukar, Farahnaz; Mavaddati, Sara

    2017-01-01

    Patient: Male, 26 Final Diagnosis: AIH-PSC overlap syndrome Symptoms: Palpable liver more than 5 cm below the costal margin and both firm and nodular • 8-kg weight loss during the last 2 months • clay-colored stool • dark urine • general fatigue • generalized icterus • light abdominal tenderness in the right upper quadrant with isolated hepatomegaly • loss of appetite • neither spider angioma nor stigmata • no clinical evidence of ascites or lymphadenopathy • non-specific abdominal discomfort • normoactive bowel sound • pruritus Medication: — Clinical Procedure: Lab tests • MRCP • Pathological analysis Specialty: Gastroenterology and Hepatology Objective: Challenging differential diagnosis Background: In patients with the diagnosis of autoimmune hepatitis (AIH), the presence of cholestatic features raise the possibility of an overlap syndrome with primary sclerosing cholangitis (PSC). Here, we present a unique case with AIH-PSC overlap syndrome and innumerable liver masses. Case Report: A 26-year-old man presented with generalized icterus. Based on the serological findings of hypergamainmunoglobulinemia and positive anti-nuclear antibody tests, together with an abnormal cholangiogram, he was diagnosed with overlap syndrome (AIH-PSC). Liver imaging revealed innumerable liver masses with a benign appearance in the pathological evaluation. To rule out the colon abnormalities that usually coexist with such liver masses, colonoscopy was performed and showed no significant changes. The liver masses were nonmalignant and were resolved after immunosuppressant therapy. Conclusions: Because AIH-PSC overlap syndrome is rare, it is suggested that radiological evaluation of the biliary tree should be performed routinely in adults diagnosed with AIH to reduce the missed diagnosis of overlap syndrome and liver masses. PMID:28167813

  15. Association of Primary Biliary Cirrhosis-autoimmune Hepatitis Overlap Syndrome with Immune Thrombocytopenia and Graves' Disease.

    PubMed

    Koyamada, Ryosuke; Higuchi, Takakazu; Kitada, Ayako; Nakagawa, Tomoko; Ikeya, Takashi; Okada, Sadamu; Fujita, Yoshiyuki

    2015-01-01

    A 54-year-old woman suffering from pruritus for five years was diagnosed to have Graves' disease and immune thrombocytopenia (ITP) associated with primary biliary cirrhosis (PBC)-autoimmune hepatitis (AIH) overlap syndrome, which was confirmed histologically after a prompt recovery in the platelet count number following steroid therapy. The association between PBC-AIH overlap syndrome and ITP has been rarely reported and the additional association with Graves' disease has not yet been reported. An underlying global derangement of autoimmunity or shared genetic susceptibility was suspected.

  16. Recurrent spontaneous subdural hematoma secondary to immune thrombocytopenia in a patient with overlap syndrome.

    PubMed

    Goh, K G; Ong, S G

    2015-01-01

    Patients with autoimmune connective tissue disease may manifest as overlap syndrome with features of systemic lupus erythematosus (SLE), systemic sclerosis, rheumatoid arthritis and myositis. Those presenting with active SLE can present with immune thrombocytopenia (IT) and may be complicated with subdural hematoma which, though rare, is potentially life-threatening. We report here a patient with overlap syndrome who had recurrent spontaneous subdural hematoma due to severe thrombocytopenia which did not respond to corticosteroids and azathioprine. Her platelet count became normal with three doses of low-dose intravenous cyclophosphamide (IV CYC) given at 3-weekly intervals. She remained in remission with maintenance therapy with azathioprine.

  17. Diagnostic Dilemmas: Overlapping Features of Brugada Syndrome and Arrhythmogenic Right Ventricular Cardiomyopathy

    PubMed Central

    Hoogendijk, Mark G.

    2012-01-01

    Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Brugada syndrome are distinct clinical entities which diagnostic criteria exclude their coexistence in individual patients. ARVC is a myocardial disorder characterized by fibro-fatty replacement of the myocardium and ventricular arrhythmias. In contrast, the Brugada syndrome has long been considered a functional cardiac disorder: no gross structural abnormalities can be identified in the majority of patients and its electrocardiographic hallmark of coved-type ST-segment elevation in right precordial leads is dynamic. Nonetheless, a remarkable overlap in clinical features has been demonstrated between these conditions. This review focuses on this overlap and discusses its potential causes and consequences. PMID:22654761

  18. 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

  19. Overlap of Moebius and oromandibular limb hypogenesis syndrome with gastroschisis and pulmonary hypoplasia.

    PubMed

    Brockmann, Knut; Backes, Heiko; Auber, Bernd; Kriebel, Thomas; Stellmer, Franziska; Zoll, Barbara

    2009-12-01

    The oromandibular limb hypogenesis syndromes (OLHS) represent a group of rare conditions characterized by congenital malformations involving the tongue, mandible, and limbs. There is considerable overlap between the syndromes gathered under the term OLHS, and a marked variability of face and limb anomalies as well as additional malformations. In this report we describe a girl with gastroschisis and pulmonary hypoplasia in addition to features of Moebius syndrome comprising hypoplasia of the tongue and mandible, brachydactyly of halluces, cranial nerve palsies with bilateral facial paralysis and an inability to execute horizontal eye movements. Karyotyping and array-based comparative genomic hybridization were normal. This observation confirms an overlap between Moebius syndrome and OLHS and widens the spectrum of associated malformations. Intrauterine environmental factors including vascular insufficiency, high maternal fever, and drug abuse are likely to play a crucial role in the pathogenesis of this condition.

  20. PCR-based study of the presence of Y-chromosome sequences in patients with Ullrich-Turner syndrome

    SciTech Connect

    Coto, E.; Menendez, M.J.; Lopez-Larrea, C.

    1995-07-03

    The presence of Y chromosome sequences in Ullrich-Turner syndrome (UTS) patients has been suggested in previous work. Karyotype analysis estimated at about 60% of patients with a 45, X constitution and molecular analysis (Southern blot analysis with several Y chromosome probes and PCR of specific sequences) identified the presence of Y chromosome material in about 40% of 45, X patients. We have developed a very sensitive, PCR-based method to detect Y specific sequences in DNA from UTS patients. This protocol permits the detection of a single cell carrying a Y sequence among 10{sup 5} Y-negative cells. We studied 18 UTS patients with 4 Y-specific sequences. In 11 patients we detected a positive amplification for at least one Y sequence. The existence of a simple and sensitive method for the detection of Y sequences has important implications for UTS patients, in view of the risk for some of the females carrying Y chromosome material of developing gonadoblastoma and virilization. Additionally, some of the UTS-associated phenotypes, such as renal anomalies, could be correlated with the presence of Y chromosome-specific sequences. 27 refs., 2 figs., 1 tab.

  1. 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.

  2. The parental origin of the single X chromosome in Turner syndrome: lack of correlation with parental age or clinical phenotype.

    PubMed Central

    Mathur, A; Stekol, L; Schatz, D; MacLaren, N K; Scott, M L; Lippe, B

    1991-01-01

    We have used X- and Y-linked RFLPs to determine the origin of the single X chromosome in 25 live-born individuals with Turner syndrome. We determined that 18 individuals retained a maternal X (Xm) and that seven retained the paternal X (Xp). No occult mosaicism was detected. We found no differences in either maternal or paternal ages for the two groups. The ratio of maternal X to paternal X is just over 2:1, which is consistent with the expected proportion of meiotic or mitotic products, with equal loss at each step, given the nonviability of 45,Y. Six phenotypic or physiologic characteristics were assessed: (1) birth weight, (2) height percentile at time of testing, (3) presence of a webbed neck, (4) cardiovascular abnormalities, (5) renal abnormalities, and (6) thyroid autoimmunity. There were no significant differences in birth weights or heights between the girls who retained the maternal X or the paternal X. In addition, no differences between the groups could be appreciated in the incidence of the physical, anatomic, or physiologic parameters assessed. Images Figure 1 PMID:1673045

  3. The role of short-term memory and visuo-spatial skills in numerical magnitude processing: Evidence from Turner syndrome

    PubMed Central

    Noël, Marie-Pascale; Nassogne, Marie-Cécile; Rousselle, Laurence

    2017-01-01

    Most studies on magnitude representation have focused on the visual modality with no possibility of disentangling the influence of visuo-spatial skills and short-term memory (STM) abilities on quantification processes. This study examines this issue in patients with Turner syndrome (TS), a genetic condition characterized by a specific cognitive profile frequently associating poor mathematical achievement, low spatial skills and reduced STM abilities. In order to identify the influence of visuo-spatial and STM processing on numerical magnitude abilities, twenty female participants with TS and twenty control female participants matched for verbal IQ and education level were administered a series of magnitude comparison tasks. The tasks differed on the nature of the magnitude to be processed (continuous, discrete and symbolic magnitude), on visuo-spatial processing requirement (no/high) and on STM demands (low in simultaneous presentation vs. high in sequential presentation). Our results showed a lower acuity when participants with TS compared the numerical magnitudes of stimuli presented sequentially (low visuo-spatial processing and high STM load: Dot sequence and Sound sequence) while no difference was observed in the numerical comparison of sets presented simultaneously. In addition, the group difference in sequential tasks disappeared when controlling for STM abilities. Finally, both groups demonstrated similar performance when comparing continuous or symbolic magnitude stimuli and they exhibited comparable subitizing abilities. These results highlight the importance of STM abilities in extracting numerosity through a sequential presentation and underline the importance of considering the impact of format presentation on magnitude judgments. PMID:28222116

  4. Analysis of Turner syndrome patients within the Jordanian population, with a focus on four patients with Y chromosome abnormalities.

    PubMed

    Daggag, H; Srour, W; El-Khateeb, M; Ajlouni, K

    2013-01-01

    This study presents findings in Turner syndrome (TS) patients from the Jordanian population, with focus on 4 patients with Y chromosomal abnormalities. From 1989 to 2011, 504 patients with TS stigmata were referred to our institute for karyotyping, resulting in 142 positive TS cases. Of these, 62 (43.7%) had the typical 45,X karyotype and the remaining individuals (56.3%) were found to be mosaics. Fifteen TS patients (10.5%) carried a structural abnormality of the Y chromosome and presented with the mosaic 45,X/46,XY karyotype. From these, 4 TS cases were investigated further. Karyotyping revealed that 1 patient carried a small supernumerary marker chromosome, whereas cytogenetic and molecular analyses showed that 3 patients carried 2 copies of the SRY gene. Further analysis by SRY sequencing revealed no mutations within the gene. The analyzed patients were found to be phenotypically either females or males, depending on the predominance of the cell line carrying the Y chromosome. This study demonstrates the importance of detailed cytogenetic analysis (such as FISH) in TS patients, and it also emphasizes the need for molecular analysis (such as PCR and sequencing) when fragments of the Y chromosome are present.

  5. Moving toward an understanding of hormone replacement therapy in adolescent girls: looking through the lens of Turner syndrome.

    PubMed

    Davenport, Marsha L

    2008-01-01

    Turner syndrome (TS) is a relatively common disorder of phenotypic females caused by loss of all or part of the second sex chromosome. Most individuals with TS have short stature and gonadal dysgenesis and are at risk for many other medical and learning problems. In the 45,X ovary, germs cells multiply quite normally during fetal development, but there is accelerated atresia of oocytes in the second half of pregnancy that produces gonadal insufficiency by birth. In girls with other karyotypes, especially those mosaic for 45,X/46,XX, gonadal function may be normal or near-normal. In this chapter, management goals for gonadal insufficiency in girls with TS are presented. The effects of estrogen deficiency and its replacement on three specific problems associated with TS-short stature, cardiovascular disease, and developmental differences in brain structure and function-are explored. General guidelines for estrogen replacement therapy using transdermal estrogen, the most physiologic option, are provided and future research goals are outlined.

  6. Early Bilateral Gonadoblastoma in a Young Child with Mosaicism for Turner Syndrome and Trisomy 18 with Y Chromosome.

    PubMed

    MacMahon, Jayne M; O'Sullivan, Maureen J; McDermott, Michael; Quinn, Feargal; Morris, Thomas; Green, Andrew J; Betts, David R; O'Connell, Susan M

    2017-01-01

    Mosaic Turner syndrome (TSM) commonly occurs in the form of 45,X/46,XX and 45,X/46,X,i(X)(q10). Mosaicism for a Y chromosome, 45,X/46,XY, has been well documented and is associated with increased risk of gonadoblastoma (GB). To date, there are only six reported cases of TSM with a trisomy 18 karyotype, and only two of these were phenotypically female with 45,X/47,XY,+18 karyotype. We present the case of a phenotypically female infant born with dysmorphic features. G-banded karyotype and interphase FISH of blood showed 45,X in 95% and 47,XY,+18 (trisomy 18) in 5% of cells analysed. However, interphase FISH of buccal cells showed only the presence of the 45,X cell line. Due to the presence of Y chromosome material, elective gonadectomy was performed at 13 months of age. There were bilateral streak ovaries with early evidence of GB bilaterally, a rudimentary uterus and bilateral fallopian tubes with unilateral ectopic adrenal tissue identified histologically. Interphase FISH of the gonadal tissue was similar to the blood findings with 45,X in 86% of cells and 47,XY,+18 in 14% of cells analysed. This case highlights a rare karyotype of TSM and trisomy 18 in the same patient and is the first reporting the associated finding of bilateral GB.

  7. Amygdala and hippocampal volumes in Turner syndrome: a high-resolution MRI study of X-monosomy.

    PubMed

    Kesler, Shelli R; Garrett, Amy; Bender, Bruce; Yankowitz, Jerome; Zeng, She Min; Reiss, Allan L

    2004-01-01

    Turner syndrome (TS) results from partial or complete X-monosomy and is characterized by deficits in visuospatial functioning as well as social cognition and memory. Neuroimaging studies have demonstrated volumetric differences in the parietal region of females with TS compared to controls. The present study examined amygdala and hippocampus morphology in an attempt to further understand the neural correlates of psychosocial and memory functioning in TS. Thirty females with TS age 7.6-33.3 years (mean = 14.7 +/- 6.4) and 29 age-matched controls (mean age = 14.8 +/- 5.9; range = 6.4-32.7) were scanned using high resolution MRI. Volumetric analyses of the MRI scans included whole brain segmentation and manual delineation of the amygdala and hippocampus. Compared to controls, participants with TS demonstrated significantly larger left amygdala gray matter volumes, irrespective of total cerebral tissue and age. Participants with TS also showed disproportionately reduced right hippocampal volumes, involving both gray and white matter. Amygdala and hippocampal volumes appear to be impacted by X-monosomy. Aberrant morphology in these regions may be related to the social cognition and memory deficits often experienced by individuals with TS. Further investigations of changes in medial temporal morphology associated with TS are warranted.

  8. The role of short-term memory and visuo-spatial skills in numerical magnitude processing: Evidence from Turner syndrome.

    PubMed

    Attout, Lucie; Noël, Marie-Pascale; Nassogne, Marie-Cécile; Rousselle, Laurence

    2017-01-01

    Most studies on magnitude representation have focused on the visual modality with no possibility of disentangling the influence of visuo-spatial skills and short-term memory (STM) abilities on quantification processes. This study examines this issue in patients with Turner syndrome (TS), a genetic condition characterized by a specific cognitive profile frequently associating poor mathematical achievement, low spatial skills and reduced STM abilities. In order to identify the influence of visuo-spatial and STM processing on numerical magnitude abilities, twenty female participants with TS and twenty control female participants matched for verbal IQ and education level were administered a series of magnitude comparison tasks. The tasks differed on the nature of the magnitude to be processed (continuous, discrete and symbolic magnitude), on visuo-spatial processing requirement (no/high) and on STM demands (low in simultaneous presentation vs. high in sequential presentation). Our results showed a lower acuity when participants with TS compared the numerical magnitudes of stimuli presented sequentially (low visuo-spatial processing and high STM load: Dot sequence and Sound sequence) while no difference was observed in the numerical comparison of sets presented simultaneously. In addition, the group difference in sequential tasks disappeared when controlling for STM abilities. Finally, both groups demonstrated similar performance when comparing continuous or symbolic magnitude stimuli and they exhibited comparable subitizing abilities. These results highlight the importance of STM abilities in extracting numerosity through a sequential presentation and underline the importance of considering the impact of format presentation on magnitude judgments.

  9. Estradiol levels in girls with Turner's syndrome compared to normal prepubertal girls as determined by an ultrasensitive assay.

    PubMed

    Wilson, Courtnay A; Heinrichs, Claudine; Larmore, Kimberly A; Craen, Marguerita; Brown-Dawson, Jacquelyn; Shaywitz, Sally; Ross, Judith; Klein, Karen Oerter

    2003-01-01

    Based on growing evidence that estradiol is produced in small amounts even in the prepubertal ovary, we hypothesized that estradiol levels in girls with Turner's syndrome (TS) are lower than in normal prepubertal girls secondary to the lack of normally functioning ovaries. Estradiol levels in untreated girls with TS have not been previously well defined because of the lack of adequate sensitivity of previously available estradiol assays. We utilized an ultrasensitive assay to study estradiol levels in 34 girls with TS and 34 normal age-matched prepubertal girls between the ages of 5 and 12 years. The average estradiol level in the girls with TS (6.4 +/- 4.9 pmol/l estradiol equivalents) was significantly lower than in the normal prepubertal girls (12.7 +/- 10.8 pmol/l estradiol equivalents; p < 0.01). Girls with TS were significantly shorter, and weighed less than the normal prepubertal girls, as expected. The estradiol level was not significantly correlated with height, bone age, or degree of bone age delay. In conclusion, girls with TS have significantly lower estradiol levels than normal age-matched prepubertal girls. This report is consistent with the hypothesis that the lack of normal ovarian function in girls with TS is evident even before puberty.

  10. Effects of X-Monosomy and X-Linked Imprinting on Superior Temporal Gyrus Morphology in Turner Syndrome

    PubMed Central

    Kesler, Shelli R.; Blasey, Christine M.; Brown, Wendy E.; Yankowitz, Jerome; Zeng, She Min; Bender, Bruce G.; Reiss, Allan L.

    2011-01-01

    Background Turner syndrome (TS) results from complete or partial monosomy X. The cognitive phenotype of TS involves preservation of verbal skills with visuospatial functioning deficits. The superior temporal gyrus (STG), which is involved in language capacities, has not been investigated in TS. Methods The STG was measured in 30 female subjects (mean age = 14.73 ± 6.41; range = 7.56 –33.30) with TS and 30 age-matched control subjects (mean age = 14.63 ± 5.90; range = 6.35–32.65) using volumetric magnetic resonance imaging analyses. Results Right STG, including both gray and white matter volumes, was significantly larger in TS compared with control subjects. Overall left STG volume was not significantly different between groups, although left white matter volume was increased in the TS subjects. The TS subgroup with a maternally derived X chromosome (Xm) demonstrated more aberrant STG volumes compared with subjects with a paternally (Xp) derived X and control subjects. The difference in STG volumes between Xm and control subjects involved both white and gray matter. The Xm subjects differed from Xp subjects only in terms of gray matter. Conclusions These findings suggest that X-monosomy and X-linked imprinting negatively affect STG development, possibly by disrupting neural pruning mechanisms. PMID:13129659

  11. The association with Turner syndrome significantly affects the course of Hashimoto's thyroiditis in children, irrespective of karyotype.

    PubMed

    Aversa, Tommaso; Messina, Maria Francesca; Mazzanti, Laura; Salerno, Mariacarolina; Mussa, Alessandro; Faienza, Maria Felicia; Scarano, Emanuela; De Luca, Filippo; Wasniewska, Malgorzata

    2015-12-01

    Only few studies have investigated to now whether the association with Turner syndrome (TS) may affect the course of Hashimoto's thyroiditis (HT) in children. Aim of this study was to ascertain whether the presentation and long-term course of HT in TS children may be characterized by a peculiar and atypical pattern. The clinical and biochemical findings at HT diagnosis in 90 TS children (group A) were compared with those recorded in 449 girls with HT but without TS (group B); in group A patients, thyroid function tests were re-evaluated after a median time interval of 4.9 years. At HT diagnosis median TSH levels and the rate of cases presenting with a thyroid dysfunction picture were significantly lower in group A, irrespective of karyotype abnormalities. In group A only 34.8 % of the girls who had initially presented with euthyroidism remained euthyroid even at re-evaluation, whilst 67.7 % of those who had presented with subclinical hypothyroidism became overtly hypothyroid over time; also such evolutive pattern was irrespective of karyotype abnormalities. (1) In TS girls, HT presents with a milder hormonal pattern, which often deteriorates over time; (2) these biochemical features are not necessarily linked with a specific karyotype.

  12. Stevens Johnson syndrome after carbamazepine and SJS/TEN overlap syndrome after amoxicillin: case reports and a review.

    PubMed

    Romańska-Gocka, Krystyna; Gocki, Jacek; Placek, Waldemar; Zegarska, Barbara; Krause, Paweł

    2010-03-01

    We present a case of Stevens Johnson syndrome in a child after carbamazepine application and Stevens Johnson/TEN overlap syndrome in an adult after amoxicillin application. On the basis of two reported cases we review the most commonly associated drugs, the postulated pathogenesis, clinical manifestation and management in these severe life-threatening diseases. We especially discuss the controversial systemic corticosteroid therapy. Topical care is also discussed.

  13. Stevens Johnson syndrome after carbamazepine and SJS/TEN overlap syndrome after amoxicillin: case reports and a review

    PubMed Central

    Gocki, Jacek; Placek, Waldemar; Zegarska, Barbara; Krause, Paweł

    2010-01-01

    We present a case of Stevens Johnson syndrome in a child after carbamazepine application and Stevens Johnson/TEN overlap syndrome in an adult after amoxicillin application. On the basis of two reported cases we review the most commonly associated drugs, the postulated pathogenesis, clinical manifestation and management in these severe life-threatening diseases. We especially discuss the controversial systemic corticosteroid therapy. Topical care is also discussed. PMID:22371734

  14. 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.

  15. [Autoimmune hepatitis/primary sclerosing cholangitis overlap syndrome in adults: report of three cases].

    PubMed

    Santos, Oscar Mauricio; Muñoz Ortiz, Edison; Pérez, Camilo; Restrepo, Juan Carlos

    2012-04-01

    Overlap syndromes are cases of liver diseases that share clinical, serological, histological and radiological criteria of autoimmune hepatitis (AIH), primary biliary cirrhosis (PBC) or primary sclerosing cholangitis (PSC). No definitions have been fully established and therefore there is no solid evidence on the diagnosis and treatment. This article presents the cases of three adult patients with overlapping features of AIH and PSC. Orthotopic liver transplantation was considered the best therapeutic alternative due to advanced disease progression in one patient, while medical treatment was provided in the remaining two patients.

  16. 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.

  17. 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.

  18. Psychogenetics of Turner syndrome: an investigation of 28 subjects and respective controls using the Bender test and Piagetian scales.

    PubMed

    Ricardi, F C F; Zaia, L L; Pellegrino-Rosa, I; Rosa, J T; Mantovani de Assis, O Z; Saldanha, P H

    2010-08-31

    Piagetian scales and the Bender visual motor gestalt test (BT) were applied to 28 subjects with universal 45,X Turner syndrome (TS), and their respective controls, in order to investigate their cognitive performance. Dermatoglyphics were also analyzed to obtain clues concerning embryological changes that may have appeared during development of the nervous system and could be associated with cognitive performance of TS patients. Dermatoglyphic pattern distribution was similar to that reported in previous studies of TS individuals: ulnar loops in the digital patterns and finger ridge, a-b, and A'-d counts were more frequent, while arch and whorl patterns were less frequent compared to controls. However, we did not find higher frequencies of hypothenar pattern, maximum atd angle, and ulnarity index in our TS subjects, unlike other investigations. Furthermore, we found significant differences between TS and control T line index values. The BT scores were also lower in probands, as has been previously reported, revealing a neurocognitive deficit of visual motor perception in TS individuals, which could be due to an absence of, or deficiency in, cerebral hemispheric lateralization. However, TS subjects seemed to improve their performance on BT with age. Cognitive performance of the TS subjects was not significantly different from that of controls, confirming a previous study in which TS performance was found to be similar to that of the normal Brazilian population. There were significant correlations between BT scores and Piagetian scale levels with dermatoglyphic parameters. This association could be explained by changes in the common ectodermal origin of the epidermis and the central nervous system. TS subjects seem to succeed in compensating their spatial impairments in adapting their cognitive and social contacts. We concluded that genetic counseling should consider cognitive and psychosocial difficulties presented by TS subjects, providing appropriate treatment and

  19. Impact of Growth Hormone on Adult Bone Quality in Turner Syndrome: A HR-pQCT Study.

    PubMed

    Nour, Munier A; Burt, Lauren A; Perry, Rebecca J; Stephure, David K; Hanley, David A; Boyd, Steven K

    2016-01-01

    Women with Turner syndrome (TS) are known to be at risk of osteoporosis. While childhood growth hormone (GH) treatment is common in TS, the impact of this therapy on bone health has been poorly understood. The objective of this study was to determine the influence of childhood GH treatment on adult bone quality in women with TS. 28 women aged 17-45 with confirmed TS (12 GH-treated) agreed to participate in this cross-sectional study. Dual X-ray absorptiometry (DXA) of lumbar spine, hip, and radius and high-resolution peripheral quantitative computed tomography (HR-pQCT) scans of the radius and tibia were used to determine standard morphological and micro-architectural parameters of bone health. Finite element (FE) analysis and polar moment of inertia (pMOI) were used to estimate bone strength. GH-treated subjects were +7.4 cm taller (95% CI 2.5-12.3 cm, p = 0.005). DXA-determined areal BMD of hip, spine, and radius was similar between treatment groups. Both tibial and radial total bone areas were greater among GH-treated subjects (+20.4 and +21.2% respectively, p < 0.05), while other micro-architectural results were not different between groups. pMOI was significantly greater among GH-treated subjects (radius +35.0%, tibia +34.0%, p < 0.05). Childhood GH treatment compared to no treatment in TS was associated with an increased height, larger bones, and greater pMOI, while no significant difference in DXA-derived BMD, HR-pQCT micro-architectural parameters, or FE-estimated bone strength was detected. The higher pMOI and greater bone size may confer benefit for fracture reduction in these GH-treated patients.

  20. 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

  1. 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.

  2. 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.

  3. Esophageal achalasia compressing left atrium diagnosed by echocardiography using a liquid containing carbon dioxide in a 21-year-old woman with Turner syndrome.

    PubMed

    Park, Man Je; Song, Bong Gun; Lee, Hyoun Soo; Kim, Ki Hoon; Ok, Hea Sung; Kim, Byeong Ki; Park, Yong Hwan; Kang, Gu Hyun; Chun, Woo Jung; Oh, Ju Hyeon

    2012-01-01

    Extrinsic compression of the left atrium by the esophagus, the stomach, or both is an uncommon but important cause of hemodynamic compromise. Achalasia is a motility disorder characterized by impaired relaxation of the lower esophageal sphincter and dilatation of the distal two thirds of the esophagus. Echocardiographic imaging after oral ingestion of liquid containing carbon dioxide allowed for differentiation between a compressive vascular structure and the esophagus. We report a rare case of esophageal achalasia compressing the left atrium diagnosed by echocardiography using a liquid containing carbon dioxide in a 21-year-old woman with Turner syndrome.

  4. Chronic pain and fatigue syndromes: overlapping clinical and neuroendocrine features and potential pathogenic mechanisms.

    PubMed

    Clauw, D J; Chrousos, G P

    1997-01-01

    Patients with unexplained chronic pain and/or fatigue have been described for centuries in the medical literature, although the terms used to describe these symptom complexes have changed frequently. The currently preferred terms for these syndromes are fibromyalgia and chronic fatigue syndrome, names which describe the prominent clinical features of the illness without any attempt to identify the cause. This review delineates the definitions of these syndromes, and the overlapping clinical features. A hypothesis is presented to demonstrate how genetic and environmental factors may interact to cause the development of these syndromes, which we postulate are caused by central nervous system dysfunction. Various components of the central nervous system appear to be involved, including the hypothalamic pituitary axes, pain-processing pathways, and autonomic nervous system. These central nervous system changes lead to corresponding changes in immune function, which we postulate are epiphenomena rather than the cause of the illnesses.

  5. Phenotypic overlapping of trisomy 12p and Pallister-Killian syndrome.

    PubMed

    Inage, Eisuke; Suzuki, Mitsuyoshi; Minowa, Kei; Akimoto, Nahoko; Hisata, Ken; Shoji, Hiromichi; Okumura, Akihisa; Shimojima, Keiko; Shimizu, Toshiaki; Yamamoto, Toshiyuki

    2010-01-01

    Trisomy of 12p is a rare chromosomal abnormality, which sometimes coexists with other chromosomal anomalies. We report on a patient with a supernumerary chromosome involving chromosomes 12 and 14, which was confirmed by array-comparative genomic hybridization (aCGH). He had developmental delay and dysmorphic features overlapped with those of Pallister-Killian syndrome, which is derived from an isodicentric chromosome 12. The microblepharon identified in our patient is a characteristic feature of 12p trisomy. Further patients are needed to establish the phenotypic difference between trisomy 12p and Pallister-Killian syndrome.

  6. Cutaneous amyloidosis associated with autoimmune hepatitis-primary biliary cirrhosis overlap syndrome.

    PubMed

    González-Moreno, Emmanuel I; Cámara-Lemarroy, Carlos R; Borjas-Almaguer, David O; Martínez-Cabriales, Sylvia A; Paz-Delgadillo, Jonathan; Gutiérrez-Udave, Rodrigo; Ayala-Cortés, Ana S; Ocampo-Candiani, Jorge; Cortéz-Hernández, Carlos A; Maldonado-Garza, Héctor J

    2015-01-01

    Cutaneous amyloidosis is a rare disease characterized by the deposition of amyloid in the dermis. It can be primary or secondary, depending on associated diseases. It has been linked to various autoimmune diseases, including primary biliary cirrhosis. We present the case of a patient with an autoimmune hepatitis-primary biliary cirrhosis overlap syndrome with concomitant cutaneous amyloidosis, a very unusual association, and discuss similar cases and possible pathophysiological implications.

  7. Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.

    PubMed

    Parenti, Ilaria; Teresa-Rodrigo, María E; Pozojevic, Jelena; Ruiz Gil, Sara; Bader, Ingrid; Braunholz, Diana; Bramswig, Nuria C; Gervasini, Cristina; Larizza, Lidia; Pfeiffer, Lutz; Ozkinay, Ferda; Ramos, Feliciano; Reiz, Benedikt; Rittinger, Olaf; Strom, Tim M; Watrin, Erwan; Wendt, Kerstin; Wieczorek, Dagmar; Wollnik, Bernd; Baquero-Montoya, Carolina; Pié, Juan; Deardorff, Matthew A; Gillessen-Kaesbach, Gabriele; Kaiser, Frank J

    2017-03-01

    The coordinated tissue-specific regulation of gene expression is essential for the proper development of all organisms. Mutations in multiple transcriptional regulators cause a group of neurodevelopmental disorders termed "transcriptomopathies" that share core phenotypical features including growth retardation, developmental delay, intellectual disability and facial dysmorphism. Cornelia de Lange syndrome (CdLS) belongs to this class of disorders and is caused by mutations in different subunits or regulators of the cohesin complex. Herein, we report on the clinical and molecular characterization of seven patients with features overlapping with CdLS who were found to carry mutations in chromatin regulators previously associated to other neurodevelopmental disorders that are frequently considered in the differential diagnosis of CdLS. The identified mutations affect the methyltransferase-encoding genes KMT2A and SETD5 and different subunits of the SWI/SNF chromatin-remodeling complex. Complementary to this, a patient with Coffin-Siris syndrome was found to carry a missense substitution in NIPBL. Our findings indicate that mutations in a variety of chromatin-associated factors result in overlapping clinical phenotypes, underscoring the genetic heterogeneity that should be considered when assessing the clinical and molecular diagnosis of neurodevelopmental syndromes. It is clear that emerging molecular mechanisms of chromatin dysregulation are central to understanding the pathogenesis of these clinically overlapping genetic disorders.

  8. Is there an overlap between Brugada syndrome and arrhythmogenic right ventricular cardiomyopathy/dysplasia?

    PubMed Central

    Riera, Andrés Ricardo Pérez; Antzelevitch, Charles; Schapacknik, Edgardo; Dubner, Sergio; Ferreira, Celso

    2006-01-01

    The Brugada syndrome is a congenital syndrome displaying an autosomal dominant mode of transmission in patients with a structurally normal heart. The disease has been linked to mutations in SCN5A, a gene located on the short arm of chromosome 3 (p21-24) that encodes for the α subunit of the sodium channel. The syndrome is characterized by a dynamic ST-segment elevation (accentuated J wave) in leads V1 to V3 of the ECG followed by negative T wave. Right bundle-branch block of varying degrees is observed in some patients. The syndrome is associated with syncope and a relatively high incidence of sudden cardiac death secondary to the development of polymorphic ventricular tachycardia that may degenerate into ventricular fibrillation. An acquired form of the Brugada syndrome is also recognized, caused by a wide variety of drugs and conditions that alter the balance of currents active during the early phases of the action potential. Among patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia, there is a subpopulation with a clinical and electrocardiographic pattern similar to that of the Brugada syndrome. These cases of arrhythmogenic right ventricular cardiomyopathy/dysplasia are thought to represent an early or concealed form of the disease. This review examines the overlap between these 2 syndromes. PMID:16003713

  9. Autoimmune hepatitis-primary biliary cirrhosis overlap syndrome concomitant with immune hemolytic anemia and immune thrombocytopenic purpura (Evans syndrome).

    PubMed

    Korkmaz, Huseyin; Bugdaci, Mehmet Sait; Temel, Tuncer; Dagli, Mehmet; Karabagli, Pinar

    2013-04-01

    Autoimmune hepatitis (AIH) and primary biliary cirrhosis (PBC) associated with Evans syndrome; combination of autoimmune hemolytic anemia (AIHA) and immune thrombocytopenic purpura (ITP) has rarely been reported. We report the case of a 53-year-old patient who presented with weakness, myalgia, arthralgia, shortness of breath and purpura. Initial laboratory investigations revealed liver dysfunction, anemia and thrombocytopenia. Anti-nuclear (ANA) and antimitochondrial M2 (AMA M2) antibodies were positive. Diagnose of PBC-AIH overlap was made by clinical, serological and histological investigations. AIHA and ITP was identified with clinical-laboratory findings and bone marrow puncture. She was treated with IVIG followed by prednisolone and ursodeoxycholic acid. Hemoglobin-thrombocytes increased rapidly and transaminases improved at day 8. We have reported the first case in the literature with AIH-PBC overlap syndrome concurrent by ITP and AIHA which suggest the presence of shared genetic susceptibility factors in multiple autoimmune conditions including AIH, PBC, ITP and AIHA.

  10. 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.

  11. Human 45,X Fibroblast Transcriptome Reveals Distinct Differentially Expressed Genes Including Long Noncoding RNAs Potentially Associated with the Pathophysiology of Turner Syndrome

    PubMed Central

    Patowary, Ashok; Scaria, Vinod; Sivasubbu, Sridhar; Deobagkar, Deepti D.

    2014-01-01

    Turner syndrome is a chromosomal abnormality characterized by the absence of whole or part of the X chromosome in females. This X aneuploidy condition is associated with a diverse set of clinical phenotypes such as gonadal dysfunction, short stature, osteoporosis and Type II diabetes mellitus, among others. These phenotypes differ in their severity and penetrance among the affected individuals. Haploinsufficiency for a few X linked genes has been associated with some of these disease phenotypes. RNA sequencing can provide valuable insights to understand molecular mechanism of disease process. In the current study, we have analysed the transcriptome profiles of human untransformed 45,X and 46,XX fibroblast cells and identified differential expression of genes in these two karyotypes. Functional analysis revealed that these differentially expressing genes are associated with bone differentiation, glucose metabolism and gonadal development pathways. We also report differential expression of lincRNAs in X monosomic cells. Our observations provide a basis for evaluation of cellular and molecular mechanism(s) in the establishment of Turner syndrome phenotypes. PMID:24932682

  12. del(X)(p22.1)/r(X)(p22.1q28) Dynamic mosaicism in a Turner syndrome patient.

    PubMed

    Gutiérrez-Angulo, Melva; Lazalde, Brissia; Vasquez, Ana I; Leal, Caridad; Corral, Elisa; Rivera, Horacio

    2002-01-01

    We report on a 16-year-old patient with Turner syndrome who presented a mos 46,X,del(X)(p22.1)[35]/45,X [19]/46,X,r(X)(p22.1q28)[6]GTG-band karyotype. The R-banding showed that the abnormal X-chromosome was inactive in all 61 cells analyzed. Fluorescence in situ hybridization with a Xp/Yp subtelomeric probe revealed that both abnormal chromosomes lacked the complementary sequences, a fact consistent with a terminal deletion. Besides, the molecular analysis of the human androgen receptor gene showed that the rearranged chromosome was paternal in origin. Since the deleted and the ring chromosomes had the same size and banding pattern, and because the former was the predominant cell line, it was inferred that the Xp- formed a ring in some cells apparently without further loss of genetic material. However, the reverse sequence and even a simultaneous origin due to a complex intrachromosomal exchange are also conceivable. The mild Turner syndrome phenotype is explained by the mosaicism and by the size of the deleted segment.

  13. Pregnancy after oocyte donation in 45, X Turner syndrome women, complicated by gestational diabetes and polyhydramnios. Case report and mini-review of literature.

    PubMed

    Czyzyk, Adam; Podfigurna-Stopa, Agnieszka; Katulski, Krzysztof; Breborowicz, Grzegorz H; Genazzani, Andrea R; Meczekalski, Blazej

    2016-08-01

    Patients suffering from Turner syndrome (TS) demonstrate characteristic clinical features, with a short stature and gonadal dysgenesis causing infertility in most patients. Spontaneous pregnancies in women with TS are quite rare and pregnancy outcomes involving an increased risk of miscarriage and stillbirths are observed. In this case report, we present a 28 years old pregnant woman with the diagnosis of TS. Due to hypergonadotrophic hypogonadism, she was proposed an in vitro fertilization (IVF) program with an oocyte donor from unrelated anonymous women. After the second transfer, implantation occurred. In the 24th week of gestation, gestational diabetes class 1 was diagnosed. In the 31st week of gestation, polyhydramnios was diagnosed, although other parameters were reassuring. Considering the polyhydramnios, along with the diagnosis of Turner syndrome in the mother, we decided to perform an elective cesarean section. Subsequently, a healthy term male was born. For most women with the diagnosis of TS, the only way to become pregnant is through oocyte donation. The aim of this work was to characterize the course of pregnancy in TS patient and review literature addressing this issue.

  14. Herpes Viral Origin of the Parsonage-Turner Syndrome: Highlighting of Serological Immune Anti-Herpes Deficiency Cured by Anti-Herpes Therapy.

    PubMed

    Goaster, Jacqueline Le; Bourée, Patrice; Ifergan, Charles; Tangy, Frederic; Olivier, René; Haenni, Anne-Lise

    2015-01-01

    In 2012, a 50 year-old athletic male presented with weakness, pain and unilateral phrenic paralysis, followed by bilateral phrenic paralysis with deep dyspnea. In 2013, the Parsonage-Turner syndrome was diagnosed. When the patient was seen in September 2014 for the first time, he was facing phrenic neuromuscular failure, which led to the hypothesis of neurotropic herpes viruses. A control of the global serological anti-Herpes immunity to analyze his antibody (Ab) levels confirmed herpes immune genetic deficiency. An appropriate herpes chemotherapy treatment was proposed. Immediately, a spectacular recovery of the patient was observed, and after a few weeks, the respiratory function tests showed normal values. The hypothesis of the inductive role of viruses of the herpes family in the Parsonage-Turner syndrome was thus substantiated. The patient's immune deficiency covers the HSV2, HHV3, HHV4, HHV5 and HHV6 Ab levels. This led to the control of herpes in the family lineage: indeed, his daughter presented alterations of her serological herpes Ab levels.

  15. Human 45,X fibroblast transcriptome reveals distinct differentially expressed genes including long noncoding RNAs potentially associated with the pathophysiology of Turner syndrome.

    PubMed

    Rajpathak, Shriram N; Vellarikkal, Shamsudheen Karuthedath; Patowary, Ashok; Scaria, Vinod; Sivasubbu, Sridhar; Deobagkar, Deepti D

    2014-01-01

    Turner syndrome is a chromosomal abnormality characterized by the absence of whole or part of the X chromosome in females. This X aneuploidy condition is associated with a diverse set of clinical phenotypes such as gonadal dysfunction, short stature, osteoporosis and Type II diabetes mellitus, among others. These phenotypes differ in their severity and penetrance among the affected individuals. Haploinsufficiency for a few X linked genes has been associated with some of these disease phenotypes. RNA sequencing can provide valuable insights to understand molecular mechanism of disease process. In the current study, we have analysed the transcriptome profiles of human untransformed 45,X and 46,XX fibroblast cells and identified differential expression of genes in these two karyotypes. Functional analysis revealed that these differentially expressing genes are associated with bone differentiation, glucose metabolism and gonadal development pathways. We also report differential expression of lincRNAs in X monosomic cells. Our observations provide a basis for evaluation of cellular and molecular mechanism(s) in the establishment of Turner syndrome phenotypes.

  16. [Catatonia and neuroleptic malignant syndrome in view of a psychopathological and pathophysiological overlap: a brief review].

    PubMed

    Asztalos, Zoltán; Egervári, Luca; Andrássy, Gábor; Faludi, Gábor; Frecska, Ede

    2014-03-01

    Catatonia was first described in the 19th century as a syndrome with motor, affective and behavioral symptoms. During the 20th century it was rather regarded as a rare motoric manifestation of schizophrenia and that classification has almost resulted in the disappearance of catatonia among patients outside of the schizophrenia spectrum. With the introduction of neuroleptics, the incidence of catatonic schizophrenia also declined which was attributed to effective treatment. Simultaneously, neuroleptic malignant syndrome was described, which shows many similarities with catatonia. Recently, several researchers suggested a common origin of the two disorders. In this paper we review case reports of the last five years, in which both neuroleptic malignant syndrome and catatonia had emerged as a diagnosis. Additionally, based on the relevant literature, we propose a common hypothetical pathomechanism with therapeutic implications for the two syndromes. Besides underlining the difficulties of differential diagnosis, the reviewed cases demonstrate a transition between the two illnesses. The similarities and the possible shifts may suggest a neuropathological and pathophysiological overlap in the background of the two syndromes. Electroconvulsive therapy and benzodiazepines seem to be an effective treatment in both syndromes. These two treatment approaches can be highly valuable in clinical practice, especially if one considers the difficulties of differential diagnosis.

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

    PubMed

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

    2013-09-21

    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.

  18. Juvenile diffuse systemic sclerosis/systemic lupus erythematosus overlap syndrome--a case report.

    PubMed

    Lin, Heng-Kuei; Wang, Jiaan-Der; Fu, Lin-Shien

    2012-06-01

    We report a rare case of diffuse systemic sclerosis (SSc) evolving into diffuse SSc/systemic lupus erythematosus (SLE) overlap syndrome. A 15-year-old boy was diagnosed as diffuse SSc with initial presentations of Raynaud's phenomenon and skin tightening. He underwent Chinese herbal treatment and clinical symptoms deteriorated in the following 3 years. On admission to our ward, serositis with pleural effusion, severe pulmonary fibrosis with moderate pulmonary hypertension, swallowing difficulty, and polyarthritis were observed. Autoantibody profiles revealed concurrence of anti-double-stranded DNA, anti-Smith, anti-topoisomerase I, and anti-ribonucleoprotein antibodies. The patient fulfills the criteria for both diffuse SSc and SLE. After drainage for pleural effusion accompanied by oral prednisolone and sildenafil, there were improvement of respiratory distress, swallowing difficulty, and pulmonary hypertension. In conclusion, connective tissue diseases may overlap with each other during the disease course. Serial follow-up for clinical symptoms as well as serological changes is recommended.

  19. Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis

    PubMed Central

    Walne, Amanda J.; Collopy, Laura; Cardoso, Shirleny; Ellison, Alicia; Plagnol, Vincent; Albayrak, Canan; Albayrak, Davut; Kilic, Sara Sebnem; Patıroglu, Turkan; Akar, Haluk; Godfrey, Keith; Carter, Tina; Marafie, Makia; Vora, Ajay; Sundin, Mikael; Vulliamy, Thomas; Tummala, Hemanth; Dokal, Inderjeet

    2016-01-01

    Dyskeratosis congenita is a highly pleotropic genetic disorder. This heterogeneity can lead to difficulties in making an accurate diagnosis and delays in appropriate management. The aim of this study was to determine the underlying genetic basis in patients presenting with features of dyskeratosis congenita and who were negative for mutations in the classical dyskeratosis congenita genes. By whole exome and targeted sequencing, we identified biallelic variants in genes that are not associated with dyskeratosis congenita in 17 individuals from 12 families. Specifically, these were homozygous variants in USB1 (8 families), homozygous missense variants in GRHL2 (2 families) and identical compound heterozygous variants in LIG4 (2 families). All patients had multiple somatic features of dyskeratosis congenita but not the characteristic short telomeres. Our case series shows that biallelic variants in USB1, LIG4 and GRHL2, the genes mutated in poikiloderma with neutropenia, LIG4/Dubowitz syndrome and the recently recognized ectodermal dysplasia/short stature syndrome, respectively, cause features that overlap with dyskeratosis congenita. Strikingly, these genes also overlap in their biological function with the known dyskeratosis congenita genes that are implicated in telomere maintenance and DNA repair pathways. Collectively, these observations demonstrate the marked overlap of dyskeratosis congenita with four other genetic syndromes, confounding accurate diagnosis and subsequent management. This has important implications for establishing a genetic diagnosis when a new patient presents in the clinic. Patients with clinical features of dyskeratosis congenita need to have genetic analysis of USB1, LIG4 and GRHL2 in addition to the classical dyskeratosis congenita genes and telomere length measurements. PMID:27612988

  20. 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.

  1. Tocilizumab in the treatment of mixed connective tissue disease and overlap syndrome in children

    PubMed Central

    Cabrera, Natalia; Duquesne, Agnes; Desjonquères, Marine; Larbre, Jean-Paul; Lega, Jean-Christophe; Fabien, Nicole; Belot, Alexandre

    2016-01-01

    Arthritis is one of the main manifestations of mixed connective tissue disease (MCTD) and overlap syndrome in children and can be responsible for functional disability. We report on 2 children with arthritis that were dramatically improved by a treatment with interleukin-6 (IL-6) blockers in the context of connective tissue disease. However, in both cases, other systemic autoimmune symptoms were not modified by the treatment and autoantibodies tend to increase, suggesting a differential effect of IL-6 inhibition on articular inflammation and systemic autoimmunity. PMID:27738519

  2. Tocilizumab in the treatment of mixed connective tissue disease and overlap syndrome in children.

    PubMed

    Cabrera, Natalia; Duquesne, Agnes; Desjonquères, Marine; Larbre, Jean-Paul; Lega, Jean-Christophe; Fabien, Nicole; Belot, Alexandre

    2016-01-01

    Arthritis is one of the main manifestations of mixed connective tissue disease (MCTD) and overlap syndrome in children and can be responsible for functional disability. We report on 2 children with arthritis that were dramatically improved by a treatment with interleukin-6 (IL-6) blockers in the context of connective tissue disease. However, in both cases, other systemic autoimmune symptoms were not modified by the treatment and autoantibodies tend to increase, suggesting a differential effect of IL-6 inhibition on articular inflammation and systemic autoimmunity.

  3. Fragile X prenatal analyses show full mutation females at high risk for mosaic Turner syndrome: fragile X leads to chromosome loss.

    PubMed

    Dobkin, Carl; Radu, Gabriel; Ding, Xiao-Hua; Brown, W Ted; Nolin, Sarah L

    2009-10-01

    The fragile X mutation is an expansion of a CGG triplet repeat in the 5' untranslated region of the FMR1 gene. Expansion to >200 repeats (the "full mutation") silences FMR1 transcription and leads to the fragile X mental retardation syndrome in males and in some females. It also affects the structure of the mitotic chromosome as evidenced by a folate sensitive fragile site. Isolated cases of 45,X/46,XX (mosaic Turner syndrome) in full mutation females have been reported but an increased prevalence was not apparent from these reports. PCR and Southern analysis of the CGG repeat in 423 prenatal female samples identified 106 full mutation cases. Surprisingly five of these had 45,X/4,6XX mosaicism while none of the other 317 female fetuses did. In two of the five cases >or=50% of the cells were reported to be 45,X and in the other three, Turner syndrome using polymorphisms and single cell cloning to identify the X chromosome that was lost. Our analysis indicates that at least four of the five full mutation mosaicism cases were due to loss of the maternal, full mutation chromosome. These data indicate that 45,X/46,XX mosaicism is much more common than expected in fragile X full mutation females. Moreover, they suggest that the presence of the fragile X full mutation on a chromosome may predispose it to loss during mitosis, possibly due to the altered structure of the metaphase fragile X chromosome.

  4. 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.

  5. Interstitial duplication of proximal 22q: phenotypic overlap with cat eye syndrome.

    PubMed

    Knoll, J H; Asamoah, A; Pletcher, B 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 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.

  6. Autoimmune hepatitis in a teenage boy: 'overlap' or 'outlier' syndrome--dilemma for internists.

    PubMed

    Talukdar, Arunansu; Khanra, Dibbendhu; Mukherjee, Kabita; Saha, Manjari

    2013-02-08

    An 18-year-old boy presented with upper gastrointestinal bleeding and jaundice. Investigations revealed coarse hepatomegaly, splenomegaly and advanced oesophageal varices. Blood reports showed marked rise of alkaline phosphatase and more than twofold rise of transaminases and IgG. Liver histology was suggestive of piecemeal necrosis, interphase hepatitis and bile duct proliferation. Antinuclear antibody was positive in high titre along with positive antismooth muscle antibody and antimitochondrial antibody. The patient was positive for human leukocyte antigen DR3 type. Although an 'overlap' syndrome exists between autoimmune hepatitis (AIH) and primary biliary cirrhosis (PBC), a cholestatic variant of AIH, a rare 'outlier' syndrome could not be excluded in our case. Moreover, 'the chicken or the egg', AIH or PBC, the dilemma for the internists continued. The patient was put on steroid and ursodeoxycholic acid with unsatisfactory response. The existing international criteria for diagnosis of AIH are not generous enough to accommodate its variant forms.

  7. A regression method including chronological and bone age for predicting final height in Turner's syndrome, with a comparison of existing methods.

    PubMed

    van Teunenbroek, A; Stijnen, T; Otten, B; de Muinck Keizer-Schrama, S; Naeraa, R W; Rongen-Westerlaken, C; Drop, S

    1996-04-01

    A total of 235 measurement points of 57 Dutch women with Turner's syndrome (TS), including women with spontaneous menarche and oestrogen treatment, served to develop a new Turner-specific final height (FH) prediction method (PTS). Analogous to the Tanner and Whitehouse mark 2 method (TW) for normal children, smoothed regression coefficients are tabulated for PTS for height (H), chronological age (CA) and bone age (BA), both TW RUS and Greulich and Pyle (GP). Comparison between all methods on 40 measurement points of 21 Danish TS women showed small mean prediction errors (predicted minus observed FH) and corresponding standard deviation (ESD) of both PTSRUS and PTSGP, in particular at the "younger" ages. Comparison between existing methods on the Dutch data indicated a tendency to overpredict FH. Before the CA of 9 years the mean prediction errors of the Bayley and Pinneau and TW methods were markedly higher compared with the other methods. Overall, the simplest methods--projected height (PAH) and its modification (mPAH)--were remarkably good at most ages. Although the validity of PTSRUS and PTSGP remains to be tested below the age of 6 years, both gave small mean prediction errors and a high accuracy. FH prediction in TS is important in the consideration of growth-promoting therapy or in the evaluation of its effects.

  8. Burnout and depression: Label-related stigma, help-seeking, and syndrome overlap.

    PubMed

    Bianchi, Renzo; Verkuilen, Jay; Brisson, Romain; Schonfeld, Irvin Sam; Laurent, Eric

    2016-11-30

    We investigated whether burnout and depression differed in terms of public stigma and help-seeking attitudes and behaviors. Secondarily, we examined the overlap of burnout and depressive symptoms. A total of 1046 French schoolteachers responded to an Internet survey in November-December 2015. The survey included measures of public stigma, help-seeking attitudes and behaviors, burnout and depressive symptoms, self-rated health, neuroticism, extraversion, history of anxiety or depressive disorder, social desirability, and socio-demographic variables. The burnout label appeared to be less stigmatizing than the depression label. In either case, however, fewer than 1% of the participants exhibited stigma scores signaling agreement with the proposed stigmatizing statements. Help-seeking attitudes and behaviors did not differ between burnout and depression. Participants considered burnout and depression similarly worth-treating. A huge overlap was observed between the self-report, time-standardized measures of burnout and depressive symptoms (disattenuated correlation: .91). The overlap was further evidenced in a confirmatory factor analysis. Thus, while burnout and depression as syndromes are unlikely to be distinct, how burnout and depression are socially represented may differ. To our knowledge, this study is the first to compare burnout- and depression-related stigma and help-seeking in the French context. Cross-national, multi-occupational studies examining different facets of stigma are needed.

  9. Irritable bowel syndrome and inflammatory bowel disease overlap syndrome: pieces of the puzzle are falling into place

    PubMed Central

    Abdul Rani, Rafiz; Raja Ali, Raja Affendi

    2016-01-01

    Irritable bowel syndrome (IBS), a common gastrointestinal disorder involving the gut-brain axis, and inflammatory bowel disease (IBD), a chronic relapsing inflammatory disorder, are both increasing in incidence and prevalence in Asia. Both have significant overlap in terms of symptoms, pathophysiology, and treatment, suggesting the possibility of IBS and IBD being a single disease entity albeit at opposite ends of the spectrum. We examined the similarities and differences in IBS and IBD, and offer new thoughts and approaches to the disease paradigm. PMID:27799880

  10. [Childhood-onset systemic polyarteritis nodosa and systemic lupus erythematosus: an overlap syndrome?

    PubMed

    Marques, Victor L S; Guariento, Andressa; Simões, Marlise S M; Blay, Gabriela; Lotito, Ana Paola N; Silva, Clovis A

    2015-03-04

    We described herein a patient who presented an overlap syndrome of childhood-onset systemic polyarteritis nodosa (c-PAN) and childhood-onset systemic lupus erythematosus (c-SLE). A 9-year-old girl presented tender subcutaneous nodules on feet, arterial hypertension, right hemiplegia and dysarthric speech. She was hospitalized due to stroke and left foot drop. Brain computer tomography showed ischemic stroke. Magnetic resonance angiography revealed stenosis in the middle cerebral and internal carotid arteries. Electroneuromyography identified a mononeuropathy of left posterior tibial nerve and she fulfilled the c-PAN validated criteria. She was treated with intravenous methylprednisolone pulse therapy followed by prednisone, that was progressively tapered, six months of intravenous cyclophosphamide and after that she received azathioprine for 19 months. At the age of 14 years and 9 months, she presented malar rash, photosensitivity, edema in lower limbs and arterial hypertension. The proteinuria was 1.7g/day. Antinuclear antibodies (ANA) were 1/1280 (homogeneous nuclear pattern) and anti-dsDNA antibodies were positive. Renal biopsy showed focal proliferative and membranous glomerulonephritis. Therefore, she fulfilled the American College of Rheumatology classification criteria for SLE and she was treated with prednisone, hydroxychloroquine and mycophenolate mofetil. In conclusion, we described herein a possible overlap syndrome of two autoimmune diseases, where c-PAN occurred five years before the c-SLE diagnosis.

  11. 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.

  12. BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia.

    PubMed

    Wooderchak-Donahue, Whitney L; McDonald, Jamie; O'Fallon, Brendan; Upton, Paul D; Li, Wei; Roman, Beth L; Young, Sarah; Plant, Parker; Fülöp, Gyula T; Langa, Carmen; Morrell, Nicholas W; Botella, Luisa M; Bernabeu, Carmelo; Stevenson, David A; Runo, James R; Bayrak-Toydemir, Pinar

    2013-09-05

    Hereditary hemorrhagic telangiectasia (HHT), the most common inherited vascular disorder, is caused by mutations in genes involved in the transforming growth factor beta (TGF-β) signaling pathway (ENG, ACVRL1, and SMAD4). Yet, approximately 15% of individuals with clinical features of HHT do not have mutations in these genes, suggesting that there are undiscovered mutations in other genes for HHT and possibly vascular disorders with overlapping phenotypes. The genetic etiology for 191 unrelated individuals clinically suspected to have HHT was investigated with the use of exome and Sanger sequencing; these individuals had no mutations in ENG, ACVRL1, and SMAD4. Mutations in BMP9 (also known as GDF2) were identified in three unrelated probands. These three individuals had epistaxis and dermal lesions that were described as telangiectases but whose location and appearance resembled lesions described in some individuals with RASA1-related disorders (capillary malformation-arteriovenous malformation syndrome). Analyses of the variant proteins suggested that mutations negatively affect protein processing and/or function, and a bmp9-deficient zebrafish model demonstrated that BMP9 is involved in angiogenesis. These data confirm a genetic cause of a vascular-anomaly syndrome that has phenotypic overlap with HHT.

  13. Learning about Turner Syndrome

    MedlinePlus

    ... Database Newsroom Calendar of Events Current News Releases Image Gallery GenomeTV Media Contacts Media Resources NHGRI-Related News Journal Articles from NHGRI Social Media Careers Educational Programs Health Professional Education Intramural ...

  14. Turner Syndrome (For Parents)

    MedlinePlus

    ... skills, and social maturity before enrolling her in kindergarten. If learning problems are identified, early preventive and ... The Nemours Foundation, iStock, Getty Images, Corbis, Veer, Science Photo Library, Science Source Images, Shutterstock, and Clipart. ...

  15. 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 ...

  16. 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' ...

  17. Turner Syndrome (For Teens)

    MedlinePlus

    ... the condition may have learning difficulties, particularly in math. Many have a hard time with tasks that ... The Nemours Foundation, iStock, Getty Images, Corbis, Veer, Science Photo Library, Science Source Images, Shutterstock, and Clipart. ...

  18. Paternally derived der(7)t(Y;7)(p11.1 approximately 11.2;p22.3)dn in a mosaic case with Turner syndrome.

    PubMed

    Polityko, Anna D; Khurs, Olga M; Kulpanovich, Anna I; Mosse, Konstantin A; Solntsava, Angelica V; Rumyantseva, Natalia V; Naumchik, Irina V; Liehr, Thomas; Weise, Anja; Mkrtchyan, Hasmik

    2009-01-01

    An unusual mosaic karyotype was detected in a 6-year-old female patient with clinical diagnosis of Turner syndrome (TS). Cytogenetic and molecular cytogenetic studies revealed besides a cell line with 45,X a second cell line where the short arm of the Y-chromosome was translocated onto the short arm of a chromosome 7; karyotype: 45,X,der(7)t(Y;7)(p11.1 approximately 11.2;p22.3)/45,X. To delineate the mechanisms of rearrangement and karyotypic evolution in this case, further studies were performed. A maternal origin of the X-chromosome and biparental origin of both chromosomes 7 were determined by microsatellite analysis. Furthermore, using parental-origin-determination fluorescence in situ hybridization (pod-FISH) it could be established that the derivative chromosome 7 was of paternal origin. Overall, this is to the best of our knowledge the first report of such a complex mosaic TS karyotype.

  19. Normal growth and normalization of hypergonadotropic hypogonadism in atypical Turner syndrome (45,X/46,XX/47,XXX). Correlation of body height with distribution of cell lines.

    PubMed

    Partsch, C J; Pankau, R; Sippell, W G; Tolksdorf, M

    1994-06-01

    A comparison has been made of a case with 45,X/46,XX/47,XXX mosaicism with some 50 cases in the literature. A significant positive correlation was found between height standard deviation scores of mosaic patients from the literature and the frequency of cells with a normal chromosome constitution (n = 21, rs = 0.552, P < 0.01). In contrast, a significant negative correlation was seen between body height and the frequency of cells with a 45,X constitution (n = 21, rs = -0.594, P < 0.01). There was no significant correlation of height standard deviation score with the 47,XXX cell line (n = 21, rs = -0.353). A patient with a rare chromosomal mosaicism (45,X/46,XX/47,XXX) is described. The diagnosis was first made by chromosome analysis in amniotic cells. The patient showed no symptoms suggestive of Turner syndrome and growth followed the 75th height percentile. Basal and gonadotropin-releasing hormone stimulated gonadotropin levels normalized after age 4.8 years and did not subsequently return to hypergonadotropic levels. In blood lymphocytes, there was an increase in the frequency of cells with a normal chromosome constitution over 9 years. This in vivo cell selection is discussed. Chromosome analysis in skin fibroblasts showed the same triple mosaicism with a similar distribution of cell lines as in blood lymphocytes. In conclusion, statistical evidence was demonstrated that the severity of short stature is correlated with the distribution of cell lines in 45,X/46,XX/47,XXX mosaicism. This finding is of importance for the genetic counselling in cases of prenatal diagnosis of mosaic Turner syndrome.

  20. 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

  1. Disappearance of left ventricular hypertrabeculation/noncompaction and sudden death in a patient with Turner mosaic syndrome.

    PubMed

    Altenberger, Johann; Hasenauer, Georg; Granitz, Marcel; Stöllberger, Claudia; Finsterer, Josef

    2012-07-15

    Left ventricular hypertrabeculation/noncompaction is associated with various neuromuscular and other rare genetic disorders. In a 53-year-old man with a Turner mosaic karyotype, regression of left ventricular hypertrabeculation/noncompaction was documented by cardiac magnetic resonance imaging and echocardiography after 7 years. During that time, coronary 3-vessel disease and severe left ventricular dys function developed, necessitating coronary bypass surgery. Postoperatively, left ventricular systolic function recovered to an ejection fraction of 40%. The patient died suddenly 6 months postoperatively. In conclusion, the disappearance of left ventricular hypertrabeculation/noncompaction was most likely due to scar formation.

  2. Autosomal and X Chromosome Structural Variants Are Associated with Congenital Heart Defects in Turner Syndrome: The NHLBI GenTAC Registry

    PubMed Central

    Prakash, Siddharth K.; Bondy, Carolyn A.; Maslen, Cheryl L.; Silberbach, Michael; Lin, Angela E.; Perrone, Laura; Limongelli, Giuseppe; Michelena, Hector I.; Bossone, Eduardo; Citro, Rodolfo; Lemaire, Scott A.; Body, Simon C.; Milewicz, Dianna M.

    2016-01-01

    Turner Syndrome (TS) is a developmental disorder caused by partial or complete loss of one sex chromosome. Bicuspid aortic valve and other left-sided congenital heart lesions (LSL), including thoracic aortic aneurysms and acute aortic dissections, are 30-50 times more frequent in TS than in the general population. In 454 TS subjects, we found that LSL are significantly associated with reduced dosage of Xp genes and increased dosage of Xq genes. We also showed that genome-wide copy number variation is increased in TS and identify a common copy number variant (CNV) in chromosome 12p13.31 that is associated with LSL with an odds ratio of 3.7. This CNV contains three protein-coding genes (SLC2A3, SLC2A14 and NANOGP1) and was previously implicated in congenital heart defects in the 22q11 deletion syndrome. In addition, we identified a subset of rare and recurrent CNVs that are also enriched in non-syndromic BAV cases. These observations support our hypothesis that X chromosome and autosomal variants affecting cardiac developmental genes may interact to cause the increased prevalence of LSL in TS. PMID:27604636

  3. Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry.

    PubMed

    Prakash, Siddharth K; Bondy, Carolyn A; Maslen, Cheryl L; Silberbach, Michael; Lin, Angela E; Perrone, Laura; Limongelli, Giuseppe; Michelena, Hector I; Bossone, Eduardo; Citro, Rodolfo; Lemaire, Scott A; Body, Simon C; Milewicz, Dianna M

    2016-12-01

    Turner Syndrome (TS) is a developmental disorder caused by partial or complete loss of one sex chromosome. Bicuspid aortic valve and other left-sided congenital heart lesions (LSL), including thoracic aortic aneurysms and acute aortic dissections, are 30-50 times more frequent in TS than in the general population. In 454 TS subjects, we found that LSL are significantly associated with reduced dosage of Xp genes and increased dosage of Xq genes. We also showed that genome-wide copy number variation is increased in TS and identify a common copy number variant (CNV) in chromosome 12p13.31 that is associated with LSL with an odds ratio of 3.7. This CNV contains three protein-coding genes (SLC2A3, SLC2A14, and NANOGP1) and was previously implicated in congenital heart defects in the 22q11 deletion syndrome. In addition, we identified a subset of rare and recurrent CNVs that are also enriched in non-syndromic BAV cases. These observations support our hypothesis that X chromosome and autosomal variants affecting cardiac developmental genes may interact to cause the increased prevalence of LSL in TS. © 2016 Wiley Periodicals, Inc.

  4. Corticoid therapy for overlapping syndromes in an HIV-positive patient.

    PubMed

    Kaku, Yu; Kodama, Shoko; Higuchi, Makiko; Nakamura, Akihiro; Nakamura, Masataka; Kaieda, Tomoe; Takahama, Soichiro; Minami, Rumi; Miyamura, Tomoya; Suematsu, Eiichi; Yamamoto, Masahiro

    2015-01-01

    Human immunodeficiency virus (HIV) infection disturbs the host's immune function and often coexists with various autoimmune and/or systemic rheumatic diseases with manifestations that sometimes overlap with each other. We herein present the case of a 43-year-old Japanese man infected with HIV who exhibited elevated serum creatine kinase and transaminases levels without any symptoms. He was diagnosed with autoimmune hepatitis, polymyositis and Sjögren's syndrome and received combined antiretroviral therapy (cART); however, the laboratory abnormalities persisted. We successfully administered cART with the addition of oral prednisolone, and the patient's condition recovered without side effects related to the metabolic or immunosuppressive effects of these drugs.

  5. Clinical and immunological overlap between autoimmune lymphoproliferative syndrome and common variable immunodeficiency.

    PubMed

    Rensing-Ehl, A; Warnatz, K; Fuchs, S; Schlesier, M; Salzer, U; Draeger, R; Bondzio, I; Joos, Y; Janda, A; Gomes, M; Abinun, M; Hambleton, S; Cant, A; Shackley, F; Flood, T; Waruiru, C; Beutel, K; Siepermann, K; Dueckers, G; Niehues, T; Wiesel, T; Schuster, V; Seidel, M G; Minkov, M; Sirkiä, K; Kopp, M V; Korhonen, M; Schwarz, K; Ehl, S; Speckmann, C

    2010-12-01

    Autoimmune lymphoproliferative syndrome (ALPS) is mainly caused by defects in the CD95 pathway. Raised CD3+TCRαβ+CD4-CD8- double negative T cells and impaired T cell apoptosis are hallmarks of the disease. In contrast, the B cell compartment has been less well studied. We found an altered distribution of B cell subsets with raised transitional B cells and reduced marginal zone B cells, switched memory B cells and plasma blasts in most of 22 analyzed ALPS patients. Moreover, 5 out of 66 ALPS patients presented with low IgG and susceptibility to infection revealing a significant overlap between ALPS and common variable immunodeficiency (CVID). In patients presenting with lymphoproliferation, cytopenia, hypogammaglobulinemia and impaired B cell differentiation, serum biomarkers were helpful in addition to apoptosis tests for the identification of ALPS patients. Our observations may indicate a role for apoptosis defects in some diseases currently classified as CVID.

  6. What is asthma-COPD overlap syndrome? Towards a consensus definition from a round table discussion.

    PubMed

    Sin, Don D; Miravitlles, Marc; Mannino, David M; Soriano, Joan B; Price, David; Celli, Bartolome R; Leung, Janice M; Nakano, Yasutaka; Park, Hye Yun; Wark, Peter A; Wechsler, Michael E

    2016-09-01

    Patients with asthma-chronic obstructive pulmonary disease overlap syndrome (ACOS) have been largely excluded from pivotal therapeutic trials and, as a result, its treatment remains poorly defined and lacking firm evidence. To date, there is no universally accepted definition of ACOS, which has made it difficult to understand its epidemiology or pathophysiology. Despite many uncertainties, there is emerging agreement that some of the key features of ACOS include persistent airflow limitation in symptomatic individuals 40 years of age and older, a well-documented history of asthma in childhood or early adulthood and a significant exposure history to cigarette or biomass smoke. In this perspective, we propose a case definition of ACOS that incorporates these key features in a parsimonious algorithm that may enable clinicians to better diagnose patients with ACOS and most importantly enable researchers to design therapeutic and clinical studies to elucidate its epidemiology and pathophysiology and to ascertain its optimal management strategies.

  7. 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

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

    PubMed

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

    2015-12-10

    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.

  9. Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes–Brocks Syndrome

    PubMed Central

    Webb, Bryn D.; Metikala, Sanjeeva; Wheeler, Patricia G.; Sherpa, Mingma D.; Houten, Sander M.; Horb, Marko E.; Schadt, Eric E.

    2017-01-01

    A heterozygous nonsense variant was identified in dapper, antagonist of beta-catenin, 1 (DACT1) via whole-exome sequencing in family members with imperforate anus, structural renal abnormalities, genitourinary anomalies, and/or ear anomalies. The DACT1 c.1256G>A;p.Trp419* variant segregated appropriately in the family consistent with an autosomal dominant mode of inheritance. DACT1 is a member of the Wnt-signaling pathway, and mice homozygous for null alleles display multiple congenital anomalies including absent anus with blind-ending colon and genitourinary malformations. To investigate the DACT1 c.1256G>A variant, HEK293 cells were transfected with mutant DACT1 cDNA plasmid, and immunoblotting revealed stability of the DACT1 p.Trp419* protein. Overexpression of DACT1 c.1256G>A mRNA in Xenopus embryos revealed a specific gastrointestinal phenotype of enlargement of the proctodeum. Together, these findings suggest that the DACT1 c.1256G>A nonsense variant is causative of a specific genetic syndrome with features overlapping Townes–Brocks syndrome. PMID:28054444

  10. Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome.

    PubMed

    Webb, Bryn D; Metikala, Sanjeeva; Wheeler, Patricia G; Sherpa, Mingma D; Houten, Sander M; Horb, Marko E; Schadt, Eric E

    2017-01-05

    A heterozygous nonsense variant was identified in dapper, antagonist of beta-catenin, 1 (DACT1) via whole-exome sequencing in family members with imperforate anus, structural renal abnormalities, genitourinary anomalies, and/or ear anomalies. The DACT1 c.1256G>A;p.Trp419(*) variant segregated appropriately in the family consistent with an autosomal dominant mode of inheritance. DACT1 is a member of the Wnt-signaling pathway, and mice homozygous for null alleles display multiple congenital anomalies including absent anus with blind-ending colon and genitourinary malformations. To investigate the DACT1 c.1256G>A variant, HEK293 cells were transfected with mutant DACT1 cDNA plasmid, and immunoblotting revealed stability of the DACT1 p.Trp419(*) protein. Overexpression of DACT1 c.1256G>A mRNA in Xenopus embryos revealed a specific gastrointestinal phenotype of enlargement of the proctodeum. Together, these findings suggest that the DACT1 c.1256G>A nonsense variant is causative of a specific genetic syndrome with features overlapping Townes-Brocks syndrome.

  11. Allogeneic hematopoietic stem cell transplant in adult patients with myelodysplastic syndrome/myeloproliferative neoplasm (MDS/MPN) overlap syndromes.

    PubMed

    Sharma, Prashant; Shinde, Shivani S; Damlaj, Moussab; Hefazi Rorghabeh, Mehrdad; Hashmi, Shahrukh K; Litzow, Mark R; Hogan, William J; Gangat, Naseema; Elliott, Michelle A; Al-Kali, Aref; Tefferi, Ayalew; Patnaik, Mrinal M

    2017-04-01

    MDS/MPN (myelodysplastic syndrome/myeloproliferative neoplasm) overlap syndromes are myeloid malignancies for which allogeneic hematopoietic stem cell transplant (allo-HSCT) is potentially curative. We describe transplant outcomes of 43 patients - 35 with chronic myelomonocytic leukemia, CMML (of which 17 had blast transformation, BT) and eight with MDS/MPN-unclassifiable (MDS/MPN,U). At median follow-up of 21 months, overall survival (OS), cumulative incidence of relapse (CIR) and non-relapse mortality (NRM) were 55%, 29%, and 25% respectively in CMML without BT and 47%, 40%, and 34% respectively in CMML with BT. Higher HSCT-comorbidity index (HSCT-CI >3 versus ≤3; p = 0.015) and splenomegaly (p = 0.006) predicted worse OS in CMML without BT. In CMML with BT, engraftment failure (p = 0.006) and higher HSCT-CI (p = 0.03) were associated with inferior OS, while HSCT within 1-year of diagnosis was associated with improved OS (p = 0.045). In MDS/MPN,U, at median follow-up of 15 months, OS, CIR, and NRM were 62%, 30%, and 14%, respectively.

  12. 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

  13. Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

    PubMed

    Acuna-Hidalgo, Rocio; Deriziotis, Pelagia; Steehouwer, Marloes; Gilissen, Christian; Graham, Sarah A; van Dam, Sipko; Hoover-Fong, Julie; Telegrafi, Aida B; Destree, Anne; Smigiel, Robert; Lambie, Lindsday A; Kayserili, Hülya; Altunoglu, Umut; Lapi, Elisabetta; Uzielli, Maria Luisa; Aracena, Mariana; Nur, Banu G; Mihci, Ercan; Moreira, Lilia M A; Borges Ferreira, Viviane; Horovitz, Dafne D G; da Rocha, Katia M; Jezela-Stanek, Aleksandra; Brooks, Alice S; Reutter, Heiko; Cohen, Julie S; Fatemi, Ali; Smitka, Martin; Grebe, Theresa A; Di Donato, Nataliya; Deshpande, Charu; Vandersteen, Anthony; Marques Lourenço, Charles; Dufke, Andreas; Rossier, Eva; Andre, Gwenaelle; Baumer, Alessandra; Spencer, Careni; McGaughran, Julie; Franke, Lude; Veltman, Joris A; De Vries, Bert B A; Schinzel, Albert; Fisher, Simon E; Hoischen, Alexander; van Bon, Bregje W

    2017-03-01

    Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo germline mutations clustering to a 12bp hotspot in exon 4 of SETBP1. Mutations in this hotspot disrupt a degron, a signal for the regulation of protein degradation, and lead to the accumulation of SETBP1 protein. Overlapping SETBP1 hotspot mutations have been observed recurrently as somatic events in leukemia. We collected clinical information of 47 SGS patients (including 26 novel cases) with germline SETBP1 mutations and of four individuals with a milder phenotype caused by de novo germline mutations adjacent to the SETBP1 hotspot. Different mutations within and around the SETBP1 hotspot have varying effects on SETBP1 stability and protein levels in vitro and in in silico modeling. Substitutions in SETBP1 residue I871 result in a weak increase in protein levels and mutations affecting this residue are significantly more frequent in SGS than in leukemia. On the other hand, substitutions in residue D868 lead to the largest increase in protein levels. Individuals with germline mutations affecting D868 have enhanced cell proliferation in vitro and higher incidence of cancer compared to patients with other germline SETBP1 mutations. Our findings substantiate that, despite their overlap, somatic SETBP1 mutations driving malignancy are more disruptive to the degron than germline SETBP1 mutations causing SGS. Additionally, this suggests that the functional threshold for the development of cancer driven by the disruption of the SETBP1 degron is higher than for the alteration in prenatal development in SGS. Drawing on previous studies of somatic SETBP1 mutations in leukemia, our results reveal a genotype-phenotype correlation in germline SETBP1 mutations spanning a molecular, cellular and clinical phenotype.

  14. Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11.

    PubMed

    Funke, B; Edelmann, L; McCain, N; Pandita, R K; Ferreira, J; Merscher, S; Zohouri, M; Cannizzaro, L; Shanske, A; Morrow, B E

    1999-03-01

    Derivative 22 (der[22]) syndrome is a rare disorder associated with multiple congenital anomalies, including profound mental retardation, preauricular skin tags or pits, and conotruncal heart defects. It can occur in offspring of carriers of the constitutional t(11;22)(q23;q11) translocation, owing to a 3:1 meiotic malsegregation event resulting in partial trisomy of chromosomes 11 and 22. The trisomic region on chromosome 22 overlaps the region hemizygously deleted in another congenital anomaly disorder, velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS). Most patients with VCFS/DGS have a similar 3-Mb deletion, whereas some have a nested distal deletion endpoint resulting in a 1.5-Mb deletion, and a few rare patients have unique deletions. To define the interval on 22q11 containing the t(11;22) breakpoint, haplotype analysis and FISH mapping were performed for five patients with der(22) syndrome. Analysis of all the patients was consistent with 3:1 meiotic malsegregation in the t(11;22) carrier parent. FISH-mapping studies showed that the t(11;22) breakpoint occurred in the same interval as the 1.5-Mb distal deletion breakpoint for VCFS. The deletion breakpoint of one VCFS patient with an unbalanced t(18;22) translocation also occurred in the same region. Hamster-human somatic hybrid cell lines from a patient with der(22) syndrome and a patient with VCFS showed that the breakpoints occurred in an interval containing low-copy repeats, distal to RANBP1 and proximal to ZNF74. The presence of low-copy repetitive sequences may confer susceptibility to chromosome rearrangements. A 1.5-Mb region of overlap on 22q11 in both syndromes suggests the presence of dosage-dependent genes in this interval.

  15. 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.

  16. 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.

  17. Stevens-Johnson Syndrome and toxic epidermal necrolysis overlap due to oral temozolomide and cranial radiotherapy.

    PubMed

    Sarma, Nilendu

    2009-01-01

    A 46-year-old man developed Stevens-Johnson syndrome and toxic epidermal necrolysis overlap, with severe localized denudation of the skin on the head and neck, following radiotherapy and oral temozolomide therapy for cranial glioblastoma multiforme. He also had a primary malignant fibrous histiocytoma of the thigh that was amputated 5 years earlier. A rash developed after 7 days of radio- and chemotherapy. It was an extensive maculopapular rash that started over the temporal area of the head and rapidly spread, sparing only the distal limbs. Radiotherapy and temozolomide were stopped on the tenth day but the rash rapidly progressed for the next 4-6 days. Following this, the spread halted and complete recovery was observed within the next 2 weeks. The peculiarity of the presentation in this case was that the brunt of the disease with severe skin denudation was localized to the surrounding areas of cranial radiotherapy. The patient was also receiving oral phenytoin, diclofenac, and parenteral dexamethasone before chemotherapy was started. These medications were continued, even after development of the skin rash, until well after full recovery from the skin lesions. After critical evaluation of disease onset, progression, and recovery, and their relationship to the introduction and withdrawal of different medicines, it appeared that either temozolomide alone or in combination with radiotherapy most probably triggered the condition.

  18. Asthma-COPD Overlap Syndrome: What We Know and What We Don't

    PubMed Central

    2017-01-01

    Approximately one in four patients with chronic obstructive pulmonary disease (COPD) have asthmatic features consisting of wheezing, airway hyper-responsiveness or atopy. The Global initiative for Asthma/Globalinitiative for chronic Obstructive Lung Disease committee recently labelled these patients as having asthma-COPD overlap syndrome or ACOS. ACOS also encompasses patients with asthma, ≥40 years of age, who have been cigarette smokers (more than 5–10 pack years) or have had significant biomass exposure, and demonstrate persistent airflow limitation defined as a post-bronchodilator forced expiratory volume in 1 second (FEV1)/forced vital capacity of <70%. Data over the past 30 years indicate that patients with ACOS have greater burden of symptoms including dyspnea and cough and show higher risk of COPD exacerbations and hospitalizations than those with pure COPD or pure asthma. Patients with ACOS also have increased risk of rapid FEV1 decline and COPD mortality. Paradoxically, experimental evidence to support therapeutic decisions in ACOS patients is lacking because traditionally, patients with ACOS have been systematically excluded from therapeutic COPD and asthma trials to maintain homogeneity of the study population. In this study, we summarize the current understanding of ACOS, focusing on definitions, epidemiology and patient prognosis. PMID:28119742

  19. Possible overlap between reversible cerebral vasoconstriction syndrome and symptomatic vasospasm after aneurysmal subarachnoid hemorrhage.

    PubMed

    Forget, Patrice; Goffette, Pierre; van de Wyngaert, Françoise; Raftopoulos, Christian; Hantson, Philippe

    2009-08-01

    A 34-year-old woman with a previous history of severe headache ("thunderclap") was admitted with a diagnosis of aneurysmal subarachnoid hemorrhage (SAH). The patient developed symptomatic vasospasm on day 5 that resolved rapidly after having increased arterial blood pressure. She experienced also short-lasting excruciating headache. On day 12, while velocities had normalised, as revealed by transcranial Doppler (TCD), for more than 48 h, she developed aphasia and right hemiplegia associated with diffuse segmental vasospasm on the left middle cerebral artery. Intra-arterial infusion of vasodilatory agents was required. Recurrence of symptomatic vasospasm was noted on day 25, with a great number of territories involved as shown in the cerebral angiogram. A second intra-arterial treatment was needed. The patient complained of multiple episodes of extremely severe headache ("thunderclap"), with also transient dysarthria and hemiparesia on day 30. She was discharged on day 38 after full recovery. The clinical and TCD/radiological findings were consistent with a reversible cerebral vasoconstriction syndrome overlapping SAH related symptomatic vasospasm.

  20. Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome

    PubMed Central

    Lüdecke, Hermann-Josef; Johnson, Carey; Wagner, Michael J.; Wells, Dan E.; Turleau, Catherine; Tommerup, Niels; Latos-Bielenska, Anna; Sandig, Klaus-Rainer; Meinecke, Peter; Zabel, Bernhard; Horsthemke, Bernhard

    1991-01-01

    The Langer-Giedion syndrome (LGS), which is characterized by craniofacial dysmorphism and skeletal abnormalities, is caused by a genetic defect in 8q24.1. We have used 13 anonymous DNA markers from an 8q24.1-specific microdissection library, as well as c-myc and thyroglobulin gene probes, to map the deletion breakpoints in 16 patients with LGS. Twelve patients had a cytogenetically visible deletion, two patients had an apparently balanced translocation, and two patients had an apparently normal karyotype. In all cases except one translocation patient, loss of genetic material was detected. The DNA markers fall into 10 deletion intervals. Clone L48 (D8S51) defines the shortest region of deletion overlap (SRO), which is estimated to be less than 2 Mbp. Three clones–pl7-2.3EE (D8S43), L24 (D8S45), and L40 (D8S49)–which flank the SRO recognize evolutionarily conserved sequences. ImagesFigure 1Figure 3Figure 4 PMID:1836105

  1. 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…

  2. Combined trisomy 9 and Ullrich-Turner syndrome in a girl with a 46,X,der(9)t(X;9)(q12;q32) karyotype.

    PubMed

    Canún, S; Mutchinick, O; Shaffer, L G; Fernández, C

    1998-11-16

    Total trisomy 9 is a rare disorder with most patients dying before age 4 months. Herein, we report a 9-year-old girl with mental retardation, short stature, a peculiar face and other minor defects, who was diagnosed as having an unbalanced de novo X-autosome translocation with a 46,X,der(9)t(X;9)(q12;q32) karyotype resulting in almost a full trisomy 9(pter-->q32) and a partial monosomy X(q12-->pter). The clinical findings of our patient, almost exclusively resemble those of trisomy 9p and the Ullrich-Turner syndromes and has few manifestations of 9q trisomy. BrdU replication studies by Giemsa staining showed an earlier replication of 9p in the translocated chromosome, but a marked late-replication pattern for almost the complete 9q arm involved in the translocation. FISH studies confirmed the presence of three 9 centromeres, excluded the presence of the X centromere signal in the rearranged chromosome, and showed that both Xq telomeric sequences were present. BrdU replication studies by FISH showed an usual pattern of striking late-replication around the XIC of the derivative chromosome, but early replication of the chromosome 9p segment and distal Xq.

  3. Pharmacogenomics of insulin-like growth factor-I generation during GH treatment in children with GH deficiency or Turner syndrome

    PubMed Central

    Stevens, A; Clayton, P; Tatò, L; Yoo, H W; Rodriguez-Arnao, M D; Skorodok, J; Ambler, G R; Zignani, M; Zieschang, J; Della Corte, G; Destenaves, B; Champigneulle, A; Raelson, J; Chatelain, P

    2014-01-01

    Individual responses to growth hormone (GH) treatment are variable. Short-term generation of insulin-like growth factor-I (IGF-I) is recognized as a potential marker of sensitivity to GH treatment. This prospective, phase IV study used an integrated genomic analysis to identify markers associated with 1-month change in IGF-I (ΔIGF-I) following initiation of recombinant human (r-h)GH therapy in treatment-naïve children with GH deficiency (GHD) (n=166) or Turner syndrome (TS) (n=147). In both GHD and TS, polymorphisms in the cell-cycle regulator CDK4 were associated with 1-month ΔIGF-I (P<0.05). Baseline gene expression was also correlated with 1-month ΔIGF-I in both GHD and TS (r=0.3; P<0.01). In patients with low IGF-I responses, carriage of specific CDK4 alleles was associated with MAPK and glucocorticoid receptor signaling in GHD, and with p53 and Wnt signaling pathways in TS. Understanding the relationship between genomic markers and early changes in IGF-I may allow development of strategies to rapidly individualize r-hGH dose. PMID:23567489

  4. 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.

  5. 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

  6. Asthma–Chronic Obstructive Pulmonary Disease Overlap Syndrome Associated with Risk of Pulmonary Embolism

    PubMed Central

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

    2016-01-01

    Purpose We conducted a cohort study to clarify this relationship between asthma–chronic obstructive pulmonary disease (COPD) overlap syndrome (ACOS) and pulmonary embolism (PE). Methods From the National Health Insurance Research Database of Taiwan, we identified patients who had a diagnosis of asthma and a diagnosis of COPD (defined as ACOS) and concurrent treatment between January 1999 and December 2009 (ACOS cohort: n = 14,150; non-ACOS cohort: n = 55,876). Cox proportional hazards regression analysis was performed to determine the adjusted hazard ratios (aHRs) for PE of the ACOS cohort compared with the non-ACOS cohort. Results Comparing the ACOS cohort with the non-ACOS cohort, the aHR of PE was 2.08 (95% confidence intervals [CIs]: 1.56–2.76). The risk of PE was higher in ACOS cohort than non-ACOS cohort, regardless of age, sex, comorbidity, inhaled corticosteroids (ICSs) and oral steroids (OSs) used. For ages ranging from 20 to 65 years, the aHR of PE was 2.53 (95% CI: 1.44–4.44) in the ACOS cohort. ACOS patients using ICSs (aHR: 1.97, 95% CI: 1.29–3.01) or OSs (aHR: 1.97, 95% CI: 1.46–2.65), the risk of PE was higher than in the non-ACOS cohort. The risk of PE increased with the number of outpatient visits and hospitalizations necessitated, ranging from 2.32 (95% CI: 1.54–3.52) in patients having 3–9 visits to 4.20 (95% CI: 2.74–6.44) for those having >9 visits. Conclusions ACOS is associated with increased risk of PE, particularly patients with a high frequency of AE—even in young adults or people without comorbidities. PMID:27611495

  7. Biomarker-based detection of asthma-COPD overlap syndrome in COPD populations.

    PubMed

    Tamada, Tsutomu; Sugiura, Hisatoshi; Takahashi, Tsuneyuki; Matsunaga, Kazuto; Kimura, Keiji; Katsumata, Uichiro; Takekoshi, Daisuke; Kikuchi, Toshiaki; Ohta, Ken; Ichinose, Masakazu

    2015-01-01

    Asthma-chronic obstructive pulmonary disease (COPD) overlap syndrome (ACOS) was proposed by the science committees of both Global Initiative for Asthma (GINA) and Global Initiative for Chronic Obstructive Lung Disease (GOLD). However, the definition of ACOS has remained unclear all over the world, and the prevalence rate of ACOS is basically dependent on the patient's symptoms or the physician's opinion, based on questionnaire testing. In the current case report, we investigated the prevalence rate of COPD patients with high levels of fractional exhaled nitric oxide (FENO) or immunoglobulin E (IgE) as candidate markers of ACOS in COPD, as a multicenter, cross-sectional study. Outpatients with COPD were enrolled from Tohoku University Hospital, Sendai, Japan, and five hospitals (Tohoku University Hospital, Sendai, Japan; NTT East Tohoku Hospital, Sendai, Japan; Wakayama Medical University Hospital, Kimiidera, Japan; Hiraka General Hospital, Yokote, Japan; Iwate Prefectural Isawa Hospital, Oshu, Japan) with pulmonary physicians from March 1, 2013 to February 28, 2014. When they were estimated using 35 ppb as the cutoff value of FENO, the prevalence rate of ACOS was 16.3% in COPD. When estimated by both FENO and IgE, the high-FENO/high-IgE group was 7.8% in COPD. To the best of our knowledge, this study is the first to detect the prevalence rate of ACOS in COPD populations by using objective biomarkers. The results from the current study should be useful to identify the subgroup requiring early intervention by inhaled corticosteroids/long-acting beta agonist combination in COPD in order to improve the long-term management for ACOS.

  8. 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.

  9. Genomic profile of a Li-Fraumeni-like syndrome patient with a 45,X/46,XX karyotype, presenting neither mutations in TP53 nor clinical stigmata of Turner syndrome.

    PubMed

    Basso, Tatiane R; Villacis, Rolando A R; Canto, Luisa M; Alves, Vinicius M F; Lapa, Rainer M L; Nóbrega, Amanda F; Achatz, Maria I; Rogatto, Silvia R

    2015-06-01

    Li-Fraumeni syndrome (LFS) is a hereditary disorder that predisposes patients to several types of cancer and is associated with TP53 germline mutations. Turner syndrome (TS) is one of the most common aneuploidies in women. Patients with TS have a higher risk of developing cancer, although multiple malignant tumors are extremely rare. Herein, we describe a patient with a 45,X/46,XX karyotype with no classic phenotype of TS. She presented with a clinical diagnosis of Li-Fraumeni-like syndrome (LFL), showing papillary thyroid carcinoma and fibrosarcoma of the left flank, and had no TP53 germline mutations. Genome-wide analysis of copy number variations (CNVs) was assessed in DNA from peripheral blood cells and saliva. A total of 109 rare CNVs in the blood cells, including mosaic loss of the X chromosome (76% of cells), were identified. In saliva, three rare CNVs were detected, all of them were also detected in the blood cells: loss of 8q24.11 (EXT1), gain of 16q24.3 (PRDM7 and GAS8), and the mosaic loss of the X chromosome (50% of cells). Results of conventional G-banding confirmed the 45,X/46,XX karyotype. Surprisingly, the patient presented with an apparently normal phenotype. The PRDM and GAS8 genes are potential candidates to be associated with the risk of developing cancer in this LFL/TS patient.

  10. Comment on Turner.

    ERIC Educational Resources Information Center

    Andersson, Yerker; And Others

    1994-01-01

    Four writers (Yerker Andersson, Trevor Johnston, Leila Monaghan, and Brian Street) respond to Graham Turner's discussion of deaf culture, considering labeling categories and approaches to definitions of "deaf culture." (Contains 24 references.) (LB)

  11. A Belgian survey on the diagnosis of asthma–COPD overlap syndrome

    PubMed Central

    Cataldo, Didier; Corhay, Jean-Louis; Derom, Eric; Louis, Renaud; Marchand, Eric; Michils, Alain; Ninane, Vincent; Peché, Rudi; Pilette, Charles; Vincken, Walter; Janssens, Wim

    2017-01-01

    Introduction Patients with chronic airway disease may present features of both asthma and COPD, commonly referred to as asthma–COPD overlap syndrome (ACOS). Recommendations on their diagnosis are diffuse and inconsistent. This survey aimed to identify consensus on criteria for diagnosing ACOS. Methods A Belgian expert panel developed a survey on ACOS diagnosis, which was completed by 87 pulmonologists. Answers chosen by ≥70% of survey respondents were considered as useful criteria for ACOS diagnosis. The two most frequently selected answers were considered as major criteria, others as minor criteria. The expert panel proposed a minimal requirement of two major criteria and one minor criterion for ACOS diagnosis. Respondents were also asked which criteria are important for considering inhaled corticosteroids prescription in a COPD patient. Results To diagnose ACOS in COPD patients, major criteria were “high degree of variability in airway obstruction over time (change in forced expiratory volume in 1 second ≥400 mL)” and “high degree of response to bronchodilators (>200 mL and ≥12% predicted above baseline)”. Minor criteria were “personal/family history of atopy and/or IgE sensitivity to ≥1 airborne allergen”, “elevated blood/sputum eosinophil levels and/or increased fractional exhaled nitric oxide”, “diagnosis of asthma <40 years of age”; “symptom variability”, and “age (in favor of asthma)”. To diagnose ACOS in asthma patients, major criteria were “persistence of airflow obstruction over time (forced expiratory volume in 1 second/forced vital capacity ratio <0.7)” and “exposure to noxious particles/gases, with ≥10 pack-years for (ex-)smokers”; minor criteria were “lack of response on acute bronchodilator test”; “reduced diffusion capacity”; “limited variability in airway obstruction”; “age >40 years”; “emphysema on chest computed tomography scan”. Conclusion Specific criteria were identified that

  12. A mutation in the 5' non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism.

    PubMed

    Canto, P; de la Chesnaye, E; López, M; Cervantes, A; Chávez, B; Vilchis, F; Reyes, E; Ulloa-Aguirre, A; Kofman-Alfaro, S; Méndez, J P

    2000-05-01

    In Ullrich-Turner syndrome (UTS) patients, the presence of a Y-chromosome or Y-derived material has been documented in frequencies ranging from 4-61%. Mutations of SRY (testis-determining gene) constitute the cause of XY sex reversal in approximately 10-15% of females with pure gonadal dysgenesis. Most of these mutations have been described in the HMG (high mobility group) box of the gene, which is the region responsible for DNA binding and bending; however, various mutations outside the HMG box have been reported. We carried out molecular studies of the SRY gene in three patients with a UTS phenotype and bilateral streaks; two presented a 45,X/46,XY mosaic, and the third a Y marker chromosome. In two patients a missense mutation, S18N, was identified in the 5' non-HMG box region in DNA from blood and both streaks; this mutation was not identified in 75 normal males. Sequencing of the DNA region of interest was normal in the father and older brother of patient 1, demonstrating that in this patient the mutation was de novo. A previous report of a 46,XY patient with partial gonadal dysgenesis who presented the same mutation as our patients indicates the probable existence of a hot spot in this region of the SRY gene and strengthens the possibility that all gonadal dysgeneses constitute part of a spectrum of the same disorder. It also demonstrates that a single genetic abnormality can result in a wide range of phenotypic expression.

  13. Buccal cell FISH and blood PCR-Y detect high rates of X chromosomal mosaicism and Y chromosomal derivatives in patients with Turner syndrome.

    PubMed

    Freriks, Kim; Timmers, Henri J L M; Netea-Maier, Romana T; Beerendonk, Catharina C M; Otten, Barto J; van Alfen-van der Velden, Janiëlle A E M; Traas, Maaike A F; Mieloo, Hanneke; van de Zande, Guillaume W H J F L; Hoefsloot, Lies H; Hermus, Ad R M M; Smeets, Dominique F C M

    2013-09-01

    Turner syndrome (TS) is the result of (partial) X chromosome monosomy. In general, the diagnosis is based on karyotyping of 30 blood lymphocytes. This technique, however, does not rule out tissue mosaicism or low grade mosaicism in the blood. Because of the associated risk of gonadoblastoma, mosaicism is especially important in case this involves a Y chromosome. We investigated different approaches to improve the detection of mosaicisms in 162 adult women with TS (mean age 29.9 ± 10.3). Standard karyotyping identified 75 patients (46.3%) with a non-mosaic monosomy 45,X. Of these 75 patients, 63 underwent additional investigations including FISH on buccal cells with X- and Y-specific probes and PCR-Y on blood. FISH analysis of buccal cells revealed a mosaicism in 19 of the 63 patients (30.2%). In five patients the additional cell lines contained a (derivative) Y chromosome. With sensitive real-time PCR we confirmed the presence of this Y chromosome in blood in three of the five cases. Although Y chromosome material was established in ovarian tissue in two patients, no gonadoblastoma was found. Our results confirm the notion that TS patients with 45,X on conventional karyotyping often have tissue specific mosaicisms, some of which include a Y chromosome. Although further investigations are needed to estimate the risk of gonadoblastoma in patients with Y chromosome material in buccal cells, we conclude that FISH or real-time PCR on buccal cells should be considered in TS patients with 45,X on standard karyotyping.

  14. Combining multicriteria decision analysis, ethics and health technology assessment: applying the EVIDEM decisionmaking framework to growth hormone for Turner syndrome patients

    PubMed Central

    2010-01-01

    Objectives To test and further develop a healthcare policy and clinical decision support framework using growth hormone (GH) for Turner syndrome (TS) as a complex case study. Methods The EVIDEM framework was further developed to complement the multicriteria decision analysis (MCDA) Value Matrix, that includes 15 quantifiable components of decision clustered in four domains (quality of evidence, disease, intervention and economics), with a qualitative tool including six ethical and health system-related components of decision. An extensive review of the literature was performed to develop a health technology assessment report (HTA) tailored to each component of decision, and content was validated by experts. A panel of representative stakeholders then estimated the MCDA value of GH for TS in Canada by assigning weights and scores to each MCDA component of decision and then considered the impact of non-quantifiable components of decision. Results Applying the framework revealed significant data gaps and the importance of aligning research questions with data needs to truly inform decision. Panelists estimated the value of GH for TS at 41% of maximum value on the MCDA scale, with good agreement at the individual level (retest value 40%; ICC: 0.687) and large variation across panelists. Main contributors to this panel specific value were "Improvement of efficacy", "Disease severity" and "Quality of evidence". Ethical considerations on utility, efficiency and fairness as well as potential misuse of GH had mixed effects on the perceived value of the treatment. Conclusions This framework is proposed as a pragmatic step beyond the current cost-effectiveness model, combining HTA, MCDA, values and ethics. It supports systematic consideration of all components of decision and available evidence for greater transparency. Further testing and validation is needed to build up MCDA approaches combined with pragmatic HTA in healthcare decisionmaking. PMID:20377888

  15. Validating genetic markers of response to recombinant human growth hormone in children with growth hormone deficiency and Turner syndrome: the PREDICT validation study

    PubMed Central

    Stevens, Adam; Murray, Philip; Wojcik, Jerome; Raelson, John; Koledova, Ekaterina; Chatelain, Pierre

    2016-01-01

    Objective Single-nucleotide polymorphisms (SNPs) associated with the response to recombinant human growth hormone (r-hGH) have previously been identified in growth hormone deficiency (GHD) and Turner syndrome (TS) children in the PREDICT long-term follow-up (LTFU) study (Nbib699855). Here, we describe the PREDICT validation (VAL) study (Nbib1419249), which aimed to confirm these genetic associations. Design and methods Children with GHD (n = 293) or TS (n = 132) were recruited retrospectively from 29 sites in nine countries. All children had completed 1 year of r-hGH therapy. 48 SNPs previously identified as associated with first year growth response to r-hGH were genotyped. Regression analysis was used to assess the association between genotype and growth response using clinical/auxological variables as covariates. Further analysis was undertaken using random forest classification. Results The children were younger, and the growth response was higher in VAL study. Direct genotype analysis did not replicate what was found in the LTFU study. However, using exploratory regression models with covariates, a consistent relationship with growth response in both VAL and LTFU was shown for four genes – SOS1 and INPPL1 in GHD and ESR1 and PTPN1 in TS. The random forest analysis demonstrated that only clinical covariates were important in the prediction of growth response in mild GHD (>4 to <10 μg/L on GH stimulation test), however, in severe GHD (≤4 μg/L) several SNPs contributed (in IGF2, GRB10, FOS, IGFBP3 and GHRHR). Conclusions The PREDICT validation study supports, in an independent cohort, the association of four of 48 genetic markers with growth response to r-hGH treatment in both pre-pubertal GHD and TS children after controlling for clinical/auxological covariates. However, the contribution of these SNPs in a prediction model of first-year response is not sufficient for routine clinical use. PMID:27651465

  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.

  17. No influence of parental origin of intact X chromosome and/or Y chromosome sequences on three-year height response to growth hormone therapy in Turner syndrome

    PubMed Central

    Lee, Hye Jin; Jung, Hae Woon; Lee, Gyung Min; Kim, Hwa Young; Kim, Jae Hyun; Lee, Sun Hee; Kim, Ji Hyun; Shin, Choong Ho; Yang, Sei Won

    2014-01-01

    Purpose Whether parental origin of the intact X chromosome and/or the presence of Y chromosome sequences (Yseq) play a role in three-year height response to growth hormone (GH) were investigated. Methods Paternal (Xp) or maternal (Xm) origin of X chromosome was assessed by microsatellite marker analysis and the presence of hidden Yseq was analyzed. The first-, second-, and third-year GH response was measured as a change in height z-score (Z_Ht) in Turner syndrome (TS) patients with 45,Xp (n=10), 45,Xm (n=15), and 45,X/46,X,+mar(Y) (Xm_Yseq) (n=8). Results The mean baseline Z_Ht did not differ according to Xp or Xm origin, however the mean baseline Z_Ht was higher in the Xm_Yseq group than in Xm group, after adjusting for bone age delay and midparental Z_Ht (P=0.04). There was no difference in the height response to GH between the 3 groups. The height response to GH decreased progressively each year (P<0.001), such that the third-year increase in Z_Ht was not significant. This third-year decrease in treatment response was unaffected by Xp, Xm, and Xm_Yseq groups. Increasing GH dosage from the second to third-year of treatment positively correlated with the increase in Z_Ht (P=0.017). Conclusion There was no evidence of X-linked imprinted genes and/or Yseq affecting height response to 3 years of GH therapy. Increasing GH dosages may help attenuate the decrease in third-year GH response in TS patients with 45,X and/or 46,X/+mar(Y). PMID:25346916

  18. Long-term effects of treatment with nasal continuous positive airway pressure on lung function in patients with overlap syndrome.

    PubMed

    de Miguel, Javier; Cabello, Jorge; Sánchez-Alarcos, José M F; Alvarez-Sala, Rudolfo; Espinós, Domingo; Alvarez-Sala, José L

    2002-03-01

    We assessed the effects of chronic nasal continuous positive airway pressure (CPAP) therapy on lung function in a series of unselected patients with overlap syndrome, and we determined whether there were differences in the response induced by CPAP between hypercapnic (PaCO2 > or =45 mm Hg) and eucapnic patients with overlap syndrome. The study population included 55 unselected patients (48 men, mean age of 58.5 +/- 10.5 years) with a concurrent diagnosis of chronic obstructive pulmonary disease (COPD) and obstructive sleep apnea-hypopnea syndrome (OSAHS) who had been referred to the Department of Pulmonology of our hospital over 2 consecutive years and in whom work-up studies resulted in the prescription of nasal CPAP therapy. An apnea-hypopnea index (AHI) greater than or equal to 10 in the cardiorespiratory polygraphy was required for the diagnosis of OSAHS. A forced expiratory volume in one second (FEV1) less than 80% and FEV1-forced vital capacity (FVC) ratio less than 70% of the reference values were required for the diagnosis of COPD. Control lung function studies and arterial blood gas measurements were performed at 6 and 18 months of CPAP therapy. These patients with overlap syndrome accounted for 28.5% of all patients with OSAHS treated with CPAP during the study period. The mean AHI was 37.3 +/- 26.1 and the mean CPAP level 7.3 +/- 1.3 cm H2O. Thirty-three patients were hypercapnic (PaCO2 > or = 45 mm Hg) and 22 eucapnic. The hypercapnic group had higher AHI value (44.3 +/- 26.9) than the eucapnic group (28.6 +/- 21.9) (P < 0.05). After 6 months of CPAP therapy, there were statistically significant increases in PaO2, FEV1, and FVC, accompanied by significant decreases in PaCO2, serum bicarbonate levels, and alveolar-arterial oxygen difference. Response of overlap syndrome patients to CPAP therapy was superior in the hypercapnic group, particularly in relation to improvement of arterial blood gases. However, statistically significant differences in all

  19. The mitochondrial DNA 10197 G > A mutation causes MELAS/Leigh overlap syndrome presenting with acute auditory agnosia.

    PubMed

    Leng, Yinglin; Liu, Yuhe; Fang, Xiaojing; Li, Yao; Yu, Lei; Yuan, Yun; Wang, Zhaoxia

    2015-04-01

    Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes/Leigh (MELAS/LS) overlap syndrome is a mitochondrial disorder subtype with clinical and magnetic resonance imaging (MRI) features that are characteristic of both MELAS and Leigh syndrome (LS). Here, we report an MELAS/LS case presenting with cortical deafness and seizures. Cranial MRI revealed multiple lesions involving bilateral temporal lobes, the basal ganglia and the brainstem, which conformed to neuroimaging features of both MELAS and LS. Whole mitochondrial DNA (mtDNA) sequencing and PCR-RFLP revealed a de novo heteroplasmic m.10197 G > A mutation in the NADH dehydrogenase subunit 3 gene (ND3), which was predicted to cause an alanine to threonine substitution at amino acid 47. Although the mtDNA m.10197 G > A mutation has been reported in association with LS, Leber hereditary optic neuropathy and dystonia, it has never been linked with MELAS/LS overlap syndrome. Our patient therefore expands the phenotypic spectrum of the mtDNA m.10197 G > A mutation.

  20. 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

  1. 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

  2. Concurrent occurrence of Sweet's syndrome and erythema nodosum: an overlap in the spectrum of reactive dermatoses.

    PubMed

    Wasson, Sanjeev; Govindarajan, Gurushanker; Folzenlogen, Darcy

    2006-03-01

    Simultaneous occurrence of Sweet's syndrome and erythema nodosum is very rare. We describe a case of a young male with a recent history of streptococcal infection who presented with concurrent Sweet's syndrome and erythema nodosum. Although the exact pathogenesis of these dermatoses is not yet clear, their similarities and simultaneous occurrence suggest a possible common underlying mechanism and may represent a continuum of reactive dermatoses. Evaluation of the role of cytokines in the etiopathogenesis of these conditions will be useful for further assessment and treatment of these conditions. Like the association of acanthosis nigricans and certain cancers and diabetes, Sweet's syndrome and erythema nodosum may be associated with certain malignancies, autoimmune disorders, or inflammatory bowel disease. Early recognition of these skin lesions can guide a search for underlying disorders. Patients with Sweet's syndrome should undergo an age-appropriate work-up for malignancy.

  3. 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

  4. Mental retardation and Ullrich-Turner syndrome in cases with 45,X/46,X, +mar: Additional support for the loss of the X-inactivation center hypothesis

    SciTech Connect

    Cole, H.; Huang, B.; Brown, J.; Howard-Peebles, P.N.; Black, S.H.; Jackson-Cook, C.; Salbert, B.A.; Febles, O.R.; Stevens, C.A.

    1994-08-15

    Four cases having mosaicism for a small marker or ring [45,X/46,X,+mar or 45,X/46,X,+r] chromosome were ascertained following cytogenetic studies requested because of minor anomalies (cases 1, 3, and 4) and/or short stature (cases 2 and 4). While all 4 cases had traits typical of Ullrich-Turner syndrome (UTS), cases 1, 3, and 4 had manifestations not usually present in UTS, including unusual facial appearance, mental retardation/developmental delay (MR/DD) (cases 3 and 4), and syndactylies (case 1). Using fluorescence in situ hybridization (FISH), each of the markers in these 4 cases was identified as having been derived from an X chromosome. Replication studies demonstrated a probable early replication pattern for the mar/r(X) in cases 1, 3, and 4, while the marker in case 2 was apparently late replicating. To date, 41 individuals having mosaicism for a small mar/r(X) chromosome have been described. Interestingly, most of the 14 individuals having a presumedly active mar/r(X) demonstrated clinical findings atypical of UTS, including abnormal facial changes (11) and MR/DD (13). MR was noted most frequently in those cases having at least 50% mosaicism for the marker or ring. In contrast, atypical UTS facial appearance or MR/DD was not noted in 14 of the 16 cases with UTS who carried a probable late replicating marker or ring. In conclusion, although the phenotype of 45,S/46,X, mar/r(X) individuals appears to be influenced by the genetic content and degree of mosaicism for the mar/r(X), the most significant factor associated with MR/DD appears to be the activity status of the mar/r(X) chromosome. Thus, our 4 cases provide further support for the hypothesis that a lack of inactivation of a small mar/r(X) chromosome may be a factor leading to the MR and other phenotypic abnormalities seen in this subset of individuals having atypical UTS. 46 refs., 6 figs., 3 tabs.

  5. 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.

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

    PubMed Central

    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

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

    PubMed

    Alganabi, Mashriq; Eter, Ahmad

    2016-10-01

    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.

  8. Chronic Fatigue Syndrome (CFS) and Cancer Related Fatigue (CRF): two "fatigue" syndromes with overlapping symptoms and possibly related aetiologies.

    PubMed

    Rovigatti, Ugo

    2012-12-01

    In July 2010, at the Muscle Fatigue Meeting, I presented an overview of Chronic Fatigue Syndrome and Cancer Related Fatigue, emphasizing a critical interpretation of the potential association between Chronic Fatigue Syndrome and Cancer Related Fatigue and a newly discovered retrovirus: Xenotropic Murine Related Virus. Since this association was hotly debated at that time, I suggested at the Meeting that it was wrong and most likely due to the identification of the wrong virus culprit. Today, 20 months after the Meeting, the first part of our prediction has turned out to be correct, as Xenotropic Murine Related Virus was shown to be a laboratory-created artefact. Still, the potential association of fatigue-syndromes with an infection (most likely viral) is sustained by a plethora of evidence and this overview will initially summarize data suggesting prior viral infection(s). The principal hypothesized mechanisms for both peripheral and central Chronic Fatigue Syndrome/Cancer Related Fatigue will be then summarized, also indicating plausible associations and triggering factors. All evidence accrued so far suggests that further research work should be performed in this interesting area and in order to identify an infectious agent for Chronic Fatigue Syndrome/Cancer Related Fatigue. One candidate RNA virus, Micro-Foci inducing Virus, will be described in this overview.

  9. Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss.

    PubMed

    Hook, Ernest B; Warburton, Dorothy

    2014-04-01

    We review the data pertinent to the hypothesis we proposed three decades ago, that all embryos that survive gestation as women with Turner syndrome and have an ostensibly non-mosaic 45,X karyotype, actually are cryptic mosaics for a "rescue line" that includes a viable karyotype. Reanalysis of the prevalence and frequency of 45,X in available data on spontaneous abortuses, and livebirths, confirms prior estimates that 1 % to 1.5 % of all recognizable pregnancies start as an apparent non-mosaic 45,X but about 99 % do not survive gestation. From the rates of 45,X in early embryos, which are notably higher than the inferred rate of gametes hypohaploid for a sex chromosome, as well as the negative maternal age association with 45,X of maternal origin we deduce, in agreement with but on independent grounds from Hall et al. (2006), that a very large proportion of 45,X embryos acquired their 45,X line after fertilization. Results of a search for mosaic cell lines in patients with "Turner syndrome" in several reports indicate that not only does the detection rate of a mosaic line depend upon the number and sensitivity of the markers used, and the number of different tissues examined, but also upon the severity of the phenotype of those cases studied, and the number of cells karyotyped initially. Such factors may explain variation in the extent of detected "cryptic" mosaicism in 45,X individuals (currently at least 50 %). We note a report by Urbach and Benvenitsy (2009) of a gene necessary for placental function, PSF2RA, which lies in the pseudoautosomal-one region of the X and Y chromosomes. Deletion of such a gene could account for the high embryonic lethality in 45,X conceptions, and a rescue line in the placenta could account for embryonic and fetal survival of those cases in which a cryptic mosaic line cannot be found in the usual studies of blood and other tissues from affected individuals. Our primary conclusions are 1) all 45,X individuals with Turner syndrome are

  10. An unusual case of Sweet syndrome in a child: overlapping presentation with erythema elevatum diutinum.

    PubMed

    Wang, Tingting; Liu, Hongjie; Wang, Lin; Guo, Zaipei; Li, Li

    2014-06-01

    In 1964, Sweet described an acute febrile neutrophilic dermatosis. It is now widely accepted that Sweet syndrome is one of the associated neutrophilic dermatoses. Herein, we describe an unusual case of Sweet syndrome in a 5-year-old child who suffered from recurrent papules, plaques, and blisters on his face and trunk after the initial onset of fever without an obvious cause. Two skin biopsies were performed. The histopathological findings of the left arm biopsy showed a subepidermal blister with dense infiltrating neutrophils within the blister that were superficial to the middle layer of the dermis. The biopsy from a plaque on the left leg showed a dense infiltrate of neutrophils and a large number of infiltrating histiocytes superficial to the middle layer of the dermis. Direct immunofluorescence of a skin biopsy from the left arm confirmed that immunoglobulin M (IgM), IgG, IgA, and C3 expression were negative.

  11. 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. PMID:27635185

  12. 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

  13. Renal angiomyolipoma in Birt-Hogg-Dube syndrome: A case study supporting overlap with tuberous sclerosis complex.

    PubMed

    Dow, Eryn; Winship, Ingrid

    2016-12-01

    Birt-Hogg-Dube syndrome (BHD) is an autosomal dominant disease characterised by benign cutaneous lesions, pulmonary cysts, and an increased risk of renal tumors. This rare condition is due to a mutation in the folliculin (FLCN) gene on chromosome 17q11.2, which has a role in the mechanistic/mammalian target of rapamycin (mTOR) signaling pathway of tumorigenesis. This case illustrates a patient with BHD and a renal angiomyolipoma, a neoplastic lesion not usually associated with BHD but common in Tuberous Sclerosis Complex (TSC). There is both clinical and molecular overlap between BHD and TSC, which may arise from similarities in function of the TSC and FLCN proteins in the mTOR pathway; this case further demonstrates this potential correlation. © 2016 Wiley Periodicals, Inc.

  14. 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

  15. 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

  16. 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

  17. Turner syndrome mosaicism: an unusual case with a de novo large dicentric marker chromosome: mos 45,X/46,X, ter rea(X;X)(p22.3;p22.3).

    PubMed

    Nucaro, Anna Lisa; Melis, Paola; Casini, Maria Rosaria; Rossino, Rossano; Cau, Milena; Melis, Maria Antonietta; Loche, Sandro

    2008-01-01

    X/X translocations are quite rare in humans. The effect of this anomaly on the phenotype is variable and depends on the amount of deleted material and whether the chromosomes are joined by their long or short arms. We report an unusual case of Turner syndrome mosaicism in a 16-year-old girl, who was referred to our Institute for primary amenorrhoea associated with short stature. Endocrine evaluation revealed hypergonadotropic hypogonadism, which required a study of the karyotype. Cytogenetic analysis, performed on peripheral blood leucocytes, showed a mos 45,X/46,X,ter rea (X;X)(p22.3;p22.3) de novo karyotype. The prevalent cell line was 45,X (90% cells). A second cell line (10% cells) showed a very large marker chromosome, similar to a large metacentric chromosome. FISH (fluorescent in situ hybridisation) and molecular analysis revealed that the marker chromosome was dicentric and totally derived from the paternal X chromosome.

  18. A Case of Seronegative Limbic Encephalitis with Multiple Sclerosis: A Possible Overlapping Syndrome

    PubMed Central

    Karaaslan, Zerrin; Mercan, Özlem; Tüzün, Erdem; Mısırlı, Handan; Türkoğlu, Recai

    2017-01-01

    Patient: Female, 45 Final Diagnosis: Autoimmune encephalitis Symptoms: Memory loss • altered mental status • anhedonia Medication: Methylprednisolone • immunoglobulin Clinical Procedure: Immunotherapy Specialty: Neurology Objective: Rare co-existance of disease or pathology Background: Autoimmune encephalitis might coexist in patients with autoimmune demyelinating disorders. Case Report: We report on a case of a 45-year-old female multiple sclerosis (MS) patient presenting with acute onset short-term memory loss, altered mental status, inflammatory cerebrospinal fluid (CSF) findings and an MRI lesion on the left temporal lobe. An extensive panel for neuronal autoantibodies proved negative. Neuropsychological symptoms gave a prompt response to immunotherapy but nevertheless control MRI showed left hippocampal atrophy. Conclusions: Several recent reports of concurrent emergence of autoimmune encephalitis and MS suggest a common mechanism for these disorders. Since autoimmune encephalitis and MS share certain common CSF and neuroimaging findings, an increased understanding of overlapping autoimmune brain disorders is required to avoid mis-diagnosis especially in antibody negative autoimmune encephalitis cases. PMID:28096524

  19. 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

  20. Prenatal diagnosis of a fetus with unbalanced translocation (4;13)(p16;q32) with overlapping features of Patau and Wolf-Hirschhorn syndromes.

    PubMed

    Tapper, Jill K; Zhang, Shuliu; Harirah, Hassan M; Panova, Neli I; Merryman, Linda S; Hawkins, Judy C; Lockhart, Lillian H; Gei, Alfredo B; Velagaleti, Gopalrao V N

    2002-01-01

    Wolf-Hirschhorn syndrome (WHS) and Patau syndrome are two of the most severe conditions resulting from chromosome abnormalities. WHS is caused by a deletion of 4p16, while Patau syndrome is caused by trisomy for some or all regions of chromosome 13. Though the etiologies of these syndromes differ, they share several features including pre- and postnatal growth retardation, microcephaly, cleft lip and palate, and cardiac anomalies. We present here a female fetus with deletion of 4p16 --> pter and duplication of 13q32 --> qter due to unbalanced segregation of t(4;13)(p16;q32) in the father. She displayed overlapping features of both of these syndromes on ultrasound. To the best of our knowledge, this is the first report of a fetus with both partial trisomy 13 and deletion of 4p16, the critical region for WHS.

  1. From High Intellectual Potential to Asperger Syndrome: Evidence for Differences and a Fundamental Overlap-A Systematic Review.

    PubMed

    Boschi, Aurélie; Planche, Pascale; Hemimou, Cherhazad; Demily, Caroline; Vaivre-Douret, Laurence

    2016-01-01

    Background: An increasing number of clinicians point to similar clinical features between some children with High Intellectual Potential (HIP or "Giftedness" = Total IQ > 2 SD), and children with Autism Spectrum Disorder (ASD) without intellectual or language delay, formerly diagnosed with Asperger Syndrome. Some of these common features are social interaction impairments, special interests, and in some cases high-verbal abilities. The aim of this article is to determine whether these similarities exist at more fundamental levels, other than clinical, and to explore the literature in order to provide empirical support for an overlap between ASD and HIP. Method: First, comparative studies between ASD and HIP children were sought. Because of a lack of data, the respective characteristics of ASD and HIP subjects were explored by a cross-sectional review of different areas of research. Emphasis was placed on psychometric and cognitive evaluations, experimental and developmental assessments, and neurobiological research, following a "bottom-up" procedure. Results: This review highlights the existence of similarities in the neurocognitive, developmental and neurobiological domains between these profiles, which require further study. In addition, the conclusions of several studies show that there are differences between HIP children with a homogeneous Intellectual Quotient profile and children with a heterogeneous Intellectual Quotient profile. Conclusion: HIP seems to cover different developmental profiles, one of which might share features with ASD. A new line of investigation providing a possible starting-point for future research is proposed. Its implications, interesting from both clinical and research perspectives, are discussed.

  2. Efficacy of Abatacept for Arthritis in Patients with an Overlap Syndrome between Rheumatoid Arthritis and Systemic Lupus Erythematosus

    PubMed Central

    Sanayama, Yoshie; Makita, Sohei; Hosokawa, Junichi; Nakagomi, Daiki; Takabayashi, Katsuhiko

    2013-01-01

    Introduction. This study aimed to investigate the efficacy of abatacept for arthritis in patients with rhupus, an overlap syndrome between rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). Methods. Patients who fulfilled both the 2010 ACR/EULAR criteria for RA classification and the 1997 ACR revised criteria for classification of SLE and received abatacept treatment for arthritis were retrospectively studied. Results. Six rhupus patients who fulfilled the inclusion criteria above were identified. All patients had active arthritis despite receiving antirheumatic drugs including methotrexate when abatacept was initiated. Clinical Disease Activity Index (CDAI) significantly decreased between baseline and 12 weeks (P = 0.028) and remained low through 24 weeks. All patients achieved either a good or moderate response according to the EULAR response criteria at 24 weeks. Health Assessment Questionnaire-Disability Index (HAQ-DI) also significantly decreased between baseline and 24 weeks (P = 0.043). In addition, the levels of immunoglobulin G and anti-DNA antibody significantly decreased between baseline and 24 weeks (P = 0.028 and P = 0.043, resp.). Conclusions. Treatment with abatacept is likely to be efficacious in patients with rhupus whose arthritis is refractory to methotrexate. In addition, abatacept may have a moderate effect on abnormal antibody production in rhupus patients. PMID:24324510

  3. Giant Splenorenal Shunt in a Young Patient with Autoimmune Hepatitis/Primary Biliary Cholangitis Overlap Syndrome and Portal Vein Thrombosis

    PubMed Central

    Castellani, F.; Greco, L.; Manuelli, M.; Manzia, T. M.; Sergiacomi, G.

    2017-01-01

    We present a case of giant Splenorenal Shunt (SRS) associated with portal vein thrombosis in a 37-year-old woman with a twelve-year history of autoimmune hepatitis/primary biliary cholangitis overlap syndrome. At the moment of the CT examination laboratory tests showed creatinine 1.5 mg/dl, bilirubin 1.5 mg/dl, INR 3, and Na 145 mmol/l and the Model End-Stage Liver Disease score was 24. Extensive calcified thrombosis causing complete occlusion of the portal vein lumen and partially occluding the origin of the superior mesenteric vein was present and a small calcified thrombus in the Splenic Vein lumen was also evident. SRS was located among the spleen hilum and the left kidney with a maximum diameter of 3.25 cm and was associated with dilatation of left renal vein and inferior vena cava. After a multidisciplinary evaluation the patient was put on the Regional Liver Transplant waiting list and liver transplantation was performed successfully. Although portal vein thrombosis and SRS are common occurrences in cirrhotic patients, the impact in the natural history of the disease is still unclear. Careful management and accurate imaging protocols are essential in the evaluation of those patients. PMID:28316856

  4. Is a previous diagnosis of asthma a reliable criterion for asthma–COPD overlap syndrome in a patient with COPD?

    PubMed Central

    Barrecheguren, Miriam; Román-Rodríguez, Miguel; Miravitlles, Marc

    2015-01-01

    Background Some patients share characteristics of both COPD and asthma. As yet, there is no gold standard to identify patients with the so-called asthma–COPD overlap syndrome (ACOS). Objective To describe the differences between ACOS patients and the remaining COPD patients, and to compare the clinical characteristics of patients diagnosed with ACOS by two different criteria: previous diagnosis of asthma before the age of 40 years; and the diagnostic criteria of the Spanish guidelines of COPD. Methods Multicenter, observational, cross-sectional study performed in 3,125 COPD patients recruited in primary care and specialized outpatient clinics. Patients with COPD and a history of asthma before the age of 40 years were diagnosed with ACOS and compared to the remaining COPD patients. Subsequently, ACOS patients were subdivided based on whether they fulfilled the Spanish guidelines of the COPD diagnostic criteria or not, and they were compared. Results ACOS was diagnosed in 15.9% of the patients. These patients had different basal characteristics compared to the remaining COPD patients, including a higher frequency of women and more exacerbations despite lower tobacco exposure and better lung function. They were more likely to have features of asthma, such as a positive bronchodilator test, higher peripheral eosinophilia, and higher total immunoglobulin E. Within the ACOS group, only one-third fulfilled the diagnostic criteria of the Spanish guidelines of COPD; these individuals were not significantly different from the remaining ACOS patients, except for having more exacerbations and poorer lung function. Conclusion ACOS patients diagnosed on the basis of a previous diagnosis of asthma differed from the remaining COPD patients, but they were similar to ACOS patients diagnosed according to more restrictive criteria, suggesting that a history of asthma before the age of 40 years could be a useful criterion to suspect ACOS in a patient with COPD. PMID:26366067

  5. Identifying possible asthma–COPD overlap syndrome in patients with a new diagnosis of COPD in primary care

    PubMed Central

    Baarnes, Camilla Boslev; Kjeldgaard, Peter; Nielsen, Mia; Miravitlles, Marc; Ulrik, Charlotte Suppli

    2017-01-01

    The asthma–chronic obstructive pulmonary disease (COPD) overlap syndrome (ACOS) remains poorly characterised. Our aim was to describe an algorithm for identifying possible ACOS in adults with newly diagnosed COPD in primary care. General practitioners (n=241) consecutively recruited subjects ⩾35 years, with tobacco exposure, at least one respiratory symptom and no previous diagnosis of obstructive lung disease. Possible ACOS was defined as chronic airflow obstruction, i.e., post-bronchodilator (BD) forced expiratory volume 1/forced vital capacity (FEV1/FVC) ratio<0.70, combined with wheeze (ACOS wheeze) and/or significant BD reversibility (ACOS BD reversibility). Of 3,875 (50% females, mean age 57 years) subjects screened, 700 (18.1%) were diagnosed with COPD, i.e., symptom(s), tobacco exposure and chronic airflow obstruction. Indications for ACOS were found in 264 (38%) of the COPD patients. The prevalence of ACOS wheeze and ACOS BD reversibility was 27% (n=190) and 16% (n=113), respectively (P<0.001), and only 6% (n=39) of the COPD patients fulfilled both criteria for ACOS. Patients with any ACOS were younger (P=0.04), had more dyspnoea (P<0.001), lower FEV1%pred (67% vs. 74%; P<0.001) and lower FEV1/FVC ratio (P=0.001) compared with COPD-only patients. Comparing subjects fulfilling both criteria for ACOS with those fulfilling criteria for ACOS wheeze only (n=151) and those fulfilling criteria for ACOS BD reversibility only (n=74) revealed no significant differences. Irrespective of the applied ACOS definition, no significant difference in life-time tobacco exposure was found between ACOS- and COPD-only patients. In subjects with a new diagnosis of COPD, the prevalence of ACOS is high. When screening for COPD in general practice among patients with no previous diagnosis of obstructive lung disease, patients with possible ACOS may be identified by self-reported wheeze and/or BD reversibility. PMID:28055002

  6. Combination therapy of inhaled steroids and long-acting beta2-agonists in asthma–COPD overlap syndrome

    PubMed Central

    Lee, Suh-Young; Park, Hye Yun; Kim, Eun Kyung; Lim, Seong Yong; Rhee, Chin Kook; Hwang, Yong Il; Oh, Yeon-Mok; Lee, Sang Do; Park, Yong Bum

    2016-01-01

    Background The efficacy of inhaled corticosteroids (ICSs)/long-acting beta2-agonist (LABA) treatment in patients with asthma–chronic obstructive pulmonary disease (COPD) overlap syndrome (ACOS) compared to patients with COPD alone has rarely been examined. This study aimed to evaluate the clinical efficacy for the improvement of lung function after ICS/LABA treatment in patients with ACOS compared to COPD alone patients. Methods Patients with stable COPD were selected from the Korean Obstructive Lung Disease (KOLD) cohort. Subjects began a 3-month ICS/LABA treatment after a washout period. ACOS was defined when the patients had 1) a personal history of asthma, irrespective of age, and wheezing in the last 12 months in a self-reported survey and 2) a positive bronchodilator response. Results Among 152 eligible COPD patients, 45 (29.6%) fulfilled the criteria for ACOS. After a 3-month treatment with ICS/LABA, the increase in forced expiratory volume in 1 second (FEV1) was significantly greater in ACOS patients than in those with COPD alone (240.2±33.5 vs 124.6±19.8 mL, P=0.002). This increase in FEV1 persisted even after adjustment for confounding factors (adjusted P=0.002). According to severity of baseline FEV1, the ACOS group showed a significantly greater increase in FEV1 than the COPD-alone group in patients with mild-to-moderate airflow limitation (223.2±42.9 vs 84.6±25.3 mL, P=0.005), whereas there was no statistically significant difference in patients with severe to very severe airflow limitation. Conclusion This study provides clinical evidence that ACOS patients with mild-to-moderate airflow limitation showed a greater response in lung function after 3 months of ICS/LABA combination treatment. PMID:27877033

  7. Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

    PubMed Central

    2013-01-01

    Background Whereas mutations affecting the helical domain of type I procollagen classically cause Osteogenesis Imperfecta (OI), helical mutations near the amino (N)-proteinase cleavage site have been suggested to result in a mixed OI/Ehlers-Danlos syndrome (EDS)-phenotype. Methods We performed biochemical and molecular analysis of type I (pro-) collagen in a cohort of seven patients referred with a clinical diagnosis of EDS and showing only subtle signs of OI. Transmission electron microscopy of the dermis was available for one patient. Results All of these patients harboured a COL1A1 / COL1A2 mutation residing within the most N-terminal part of the type I collagen helix. These mutations affect the rate of type I collagen N-propeptide cleavage and disturb normal collagen fibrillogenesis. Importantly, patients with this type of mutation do not show a typical OI phenotype but mainly present as EDS patients displaying severe joint hyperlaxity, soft and hyperextensible skin, abnormal wound healing, easy bruising, and sometimes signs of arterial fragility. In addition, they show subtle signs of OI including blue sclerae, relatively short stature and osteopenia or fractures. Conclusion Recognition of this distinct phenotype is important for accurate genetic counselling, clinical management and surveillance, particularly in relation to the potential risk for vascular rupture associated with these mutations. Because these patients present clinical overlap with other EDS subtypes, biochemical collagen analysis is necessary to establish the correct diagnosis. PMID:23692737

  8. 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

  9. 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

  10. 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

  11. 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.

  12. 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…

  13. 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

  14. 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.

  15. 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

  16. Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR).

    PubMed

    McQuade, L; Christodoulou, J; Budarf, M; Sachdev, R; Wilson, M; Emanuel, B; Colley, A

    1999-09-03

    The apparent lack of genotype/phenotype correlation in patients with the DiGeorge anomaly and velocardiofacial syndrome (DGA/VCFS; the "22q11 deletion syndrome") indicates a complex genetic condition. Most cases, whatever the phenotype, have a 1.5-3 Mb chromosomal deletion that includes the minimal DiGeorge critical region (MDGCR). Another potential critical region on 22q11 has been suggested based on two patients with distal deletions outside the MDGCR. We report on a patient with a VCFS phenotype who has a deletion, mapped by short tandem repeat polymorphic loci and fluorescence in situ hybridization analysis, distal to and not overlapping the MDGCR. This patient is deleted for several genes, including the T-box 1 gene (TBX1; a transcription regulator expressed early in embryogenesis) and catechol-O-methyltransferase (COMT; involved in neurotransmitter metabolism). We discuss the role these two genes may play in the clinical phenotype of the patient.

  17. 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.…

  18. 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.

  19. Presence of Turner stigmata in a case of dysgenetic male pseudohermaphroditism with 45,X/46,X+mar karyotype

    PubMed Central

    Hashimoto, H.; Maruyama, H.; Koshida, R.; Okuda, N.; Murayama, K.; Katsumi, T.; Watanabe, K.; Sato, T.

    1997-01-01

    Accepted 19 November 1996
 A case is reported of dysgenetic male pseudohermaphroditism (DMPH) having Turner stigmata and 45,X/46,X+mar karyotype. The marker chromosome of this patient consisted of most if not all of the short arm, including the sex determining region of the Y chromosome. Although this karyotype is relatively common in Turner's syndrome and occasionally observed in mixed gonadal dysgenesis, DMPH is usually exemplified by a 46,XY karyotype except for one patient reported with 45,X/46,XY mosaicism. Turner stigmata have not previously been reported in DMPH. The present patient is an intermediate case between mixed gonodal dysgenesis and typical DMPH, and this indicates that 45,X/46,X+mar karyotype abnormality can result in a wide range of phenotype such as DMPH, mixed gonodal dysgenesis and Turner's syndrome.

 PMID:9135271

  20. Presence of Turner stigmata in a case of dysgenetic male pseudohermaphroditism with 45,X/46,X+mar karyotype.

    PubMed

    Hashimoto, H; Maruyama, H; Koshida, R; Okuda, N; Murayama, K; Katsumi, T; Watanabe, K; Sato, T

    1997-03-01

    A case is reported of dysgenetic male pseudohermaphroditism (DMPH) having Turner stigmata and 45,X/46,X+mar karyotype. The marker chromosome of this patient consisted of most if not all of the short arm, including the sex determining region of the Y chromosome. Although this karyotype is relatively common in Turner's syndrome and occasionally observed in mixed gonadal dysgenesis, DMPH is usually exemplified by a 46,XY karyotype except for one patient reported with 45,X/46,XY mosaicism. Turner stigmata have not previously been reported in DMPH. The present patient is an intermediate case between mixed gonodal dysgenesis and typical DMPH, and this indicates that 45,X/ 46,X +mar karyotype abnormality can result in a wide range of phenotype such as DMPH, mixed gonodal dysgenesis and Turner's syndrome.

  1. Piperacillin-tazobactam-induced linear IgA bullous dermatosis presenting clinically as Stevens-Johnson syndrome/toxic epidermal necrolysis overlap.

    PubMed

    Adler, N R; McLean, C A; Aung, A K; Goh, M S Y

    2017-04-01

    Linear IgA bullous dermatosis (LABD) is a subepidermal autoimmune bullous disease characterized by linear IgA deposition at the basement membrane zone, which is visualized by direct immunofluorescence. Patients with LABD typically present with widespread vesicles and bullae; however, this is not necessarily the case, as the clinical presentation of this disease is heterogeneous. LABD clinically presenting as Stevens-Johnson syndrome (SJS) or toxic epidermal necrolysis (TEN) is an infrequent, yet well-described phenomenon. Most cases of LABD are idiopathic, but some cases are drug-induced. Multiple drugs have been implicated in the development of LABD. We report a case of piperacillin-tazobactam-induced LABD presenting clinically as SJS/TEN overlap. This is the first reported case of a strong causal association between piperacillin-tazobactam and the development of LABD.

  2. Compromised trabecular microarchitecture and lower finite element estimates of radius and tibia bone strength in adults with turner syndrome: a cross-sectional study using high-resolution-pQCT.

    PubMed

    Hansen, Stinus; Brixen, Kim; Gravholt, Claus H

    2012-08-01

    Although bone mass appear ample for bone size in Turner syndrome (TS), epidemiological studies have reported an increased risk of fracture in TS. We used high-resolution peripheral quantitative computed tomography (HR-pQCT) to measure standard morphological parameters of bone geometry and microarchitecture, as well as estimated bone strength by finite element analysis (FEA) to assess bone characteristics beyond bone mineral density (BMD) that possibly contribute to the increased risk of fracture. Thirty-two TS patients (median age 35, range 20-61 years) and 32 healthy control subjects (median age 36, range 19-58 years) matched with the TS participants with respect to age and body-mass index were studied. A full region of interest (ROI) image analysis and a height-matched ROI analysis adjusting for differences in body height between groups were performed. Mean bone cross-sectional area was lower in TS patients in radius (-15%) and tibia (-13%) (both p < 0.01) whereas cortical thickness was higher in TS patients in radius (18%, p < 0.01) but not in tibia compared to controls. Cortical porosity was lower in TS patients at both sites (-32% in radius, -36% in tibia, both p < 0.0001). Trabecular integrity was compromised in TS patients with lower bone volume per tissue volume (BV/TV) (-27% in radius, -22% in tibia, both p < 0.0001), trabecular number (-27% in radius, -12% in tibia, both p < 0.05), and higher trabecular spacing (54% in radius, 23% in tibia, both p < 0.01). In the height-matched ROI analysis, differences remained significant apart from total area at both sites, cortical thickness in radius, and trabecular number in tibia. FEA estimated failure load was lower in TS patients in both radius (-11%) and tibia (-16%) (both p < 0.01) and remained significantly lower in the height-matched ROI analysis. Conclusively, TS patients had compromised trabecular microarchitecture and lower bone strength at both skeletal sites, which may partly

  3. 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

  4. Sagging Eye Syndrome or Nemaline Rod Myopathy? Divergence Insufficiency with Levator Dehiscence as an Overlapping Symptom between Two Diagnoses.

    PubMed

    Cheung, Stephanie S L; Ghadiali, Larissa K; Brannagan Iii, Thomas H; Moonis, Gul; Faust, Phyllis L; Odel, Jeffrey G

    2017-01-01

    A 78-year-old woman complained of gradual, painless onset of horizontal binocular diplopia associated with progressive axial weakness. Physical examination revealed esotropia that was greater at distance than at near vision, bilateral levator dehiscence, and normal abducting saccadic speeds. Given the age of the patient and compatible clinical findings, the diagnosis of Sagging Eye Syndrome (SES) was made. However, further work-up with a muscle biopsy suggested Sporadic Late-Onset Nemaline Myopathy (SLONM) as the cause of her progressive muscle weakness. Although rare, external ophthalmoplegia has been described in the literature as a presenting symptom in SLONM. To elucidate the pathological mechanism for the patient's diplopia, an MRI of the orbits was performed, which revealed findings consistent with SES. This case aims to highlight the importance of integrating clinical findings during the diagnostic process and serves as a reminder that diplopia can be a common symptom for an uncommon diagnosis.

  5. Sagging Eye Syndrome or Nemaline Rod Myopathy? Divergence Insufficiency with Levator Dehiscence as an Overlapping Symptom between Two Diagnoses

    PubMed Central

    Ghadiali, Larissa K.; Brannagan III, Thomas H.; Moonis, Gul; Faust, Phyllis L.; Odel, Jeffrey G.

    2017-01-01

    A 78-year-old woman complained of gradual, painless onset of horizontal binocular diplopia associated with progressive axial weakness. Physical examination revealed esotropia that was greater at distance than at near vision, bilateral levator dehiscence, and normal abducting saccadic speeds. Given the age of the patient and compatible clinical findings, the diagnosis of Sagging Eye Syndrome (SES) was made. However, further work-up with a muscle biopsy suggested Sporadic Late-Onset Nemaline Myopathy (SLONM) as the cause of her progressive muscle weakness. Although rare, external ophthalmoplegia has been described in the literature as a presenting symptom in SLONM. To elucidate the pathological mechanism for the patient's diplopia, an MRI of the orbits was performed, which revealed findings consistent with SES. This case aims to highlight the importance of integrating clinical findings during the diagnostic process and serves as a reminder that diplopia can be a common symptom for an uncommon diagnosis. PMID:28182120

  6. Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63.

    PubMed

    Slavotinek, Anne M; Tanaka, June; Winder, Alison; Vargervik, Karin; Haggstrom, Anita; Bamshad, Michael

    2005-10-01

    We report on a new patient with clinical findings consistent with acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome. The child had sparse hair, extensive freckling, lacrimal duct stenosis, oligodontia, dystrophic nails, reduced sweating, and bilateral athelia. Examination of his hands showed ulnar ray hypoplasia with bilateral fifth finger brachydactyly and camptodactyly. He also had surgical repair of an imperforate anus. Mutation analysis of TP63 showed a single nucleotide substitution, c.G518A, predicting a novel missense mutation, p.V114M in exon 4. This is the third mutation to be reported in TP63 in ADULT syndrome.

  7. De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.

    PubMed

    Gil-Rodríguez, María Concepción; Deardorff, Matthew A; Ansari, Morad; Tan, Christopher A; Parenti, Ilaria; Baquero-Montoya, Carolina; Ousager, Lilian B; Puisac, Beatriz; Hernández-Marcos, María; Teresa-Rodrigo, María Esperanza; Marcos-Alcalde, Iñigo; Wesselink, Jan-Jaap; Lusa-Bernal, Silvia; Bijlsma, Emilia K; Braunholz, Diana; Bueno-Martinez, Inés; Clark, Dinah; Cooper, Nicola S; Curry, Cynthia J; Fisher, Richard; Fryer, Alan; Ganesh, Jaya; Gervasini, Cristina; Gillessen-Kaesbach, Gabriele; Guo, Yiran; Hakonarson, Hakon; Hopkin, Robert J; Kaur, Maninder; Keating, Brendan J; Kibaek, María; Kinning, Esther; Kleefstra, Tjitske; Kline, Antonie D; Kuchinskaya, Ekaterina; Larizza, Lidia; Li, Yun R; Liu, Xuanzhu; Mariani, Milena; Picker, Jonathan D; Pié, Ángeles; Pozojevic, Jelena; Queralt, Ethel; Richer, Julie; Roeder, Elizabeth; Sinha, Anubha; Scott, Richard H; So, Joyce; Wusik, Katherine A; Wilson, Louise; Zhang, Jianguo; Gómez-Puertas, Paulino; Casale, César H; Ström, Lena; Selicorni, Angelo; Ramos, Feliciano J; Jackson, Laird G; Krantz, Ian D; Das, Soma; Hennekam, Raoul C M; Kaiser, Frank J; FitzPatrick, David R; Pié, Juan

    2015-04-01

    Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism, growth failure, intellectual disability, limb malformations, and multiple organ involvement. Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), account for at least 70% of patients with CdLS or CdLS-like phenotypes. To date, only the clinical features from a single CdLS patient with SMC3 mutation has been published. Here, we report the efforts of an international research and clinical collaboration to provide clinical comparison of 16 patients with CdLS-like features caused by mutations in SMC3. Modeling of the mutation effects on protein structure suggests a dominant-negative effect on the multimeric cohesin complex. When compared with typical CdLS, many SMC3-associated phenotypes are also characterized by postnatal microcephaly but with a less distinctive craniofacial appearance, a milder prenatal growth retardation that worsens in childhood, few congenital heart defects, and an absence of limb deficiencies. While most mutations are unique, two unrelated affected individuals shared the same mutation but presented with different phenotypes. This work confirms that de novo SMC3 mutations account for ∼ 1%-2% of CdLS-like phenotypes.

  8. Turner Syndrome: A Guide for Families

    MedlinePlus

    ... visual-spatial domain. Occupational therapy (even for toddlers), academic tutoring and training in problem-solving also can ... can learn to work and play with others. Music, drama, dance, singing, 4H clubs, scouting and sports ...

  9. What Are the Symptoms of Turner Syndrome?

    MedlinePlus

    ... print info for the public, providers, educators, researchers Data Sharing and Other Resources Scientific databases, models, datasets & repositories Research Research networks, center programs, career ...

  10. 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

  11. 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

  12. Laparoscopic gonadectomy in a case of a dicentric fluorescent Y-chromosome mosaicism with Turner-like phenotype and virilized external genitalia.

    PubMed

    Takeuchi, K; Oomori, S; Oda, N; Takekida, S; Kondo, H; Maruo, T

    2003-01-01

    In few cases of Turner syndrome the karyotype reveals the presence of an additional Y-bearing cell line, which is referred to as a borderline case of mixed gonadal dysgenesis. We report a 20-year-old woman with primary amenorrhea, virilization and a few Turner stigmata, who revealed rare mosaicism of 45,X/46,X dic (Y; 5)(q12; q11), +5/46,X, der (Y), which was detected by conventional G-banding and multicolor spectral karyotyping. She underwent laparoscopic gonadectomy in which mixed gonadal dysgenesis was found and both gonads were removed. No evidence of gonadoblastoma was noted on the gonads. Virilization improved postoperatively. We recommend gonadectomy via laparoscope in women presenting with Turner-like phenotype, virilization and the presence of a Y chromosome. This report describes the role of cytogenetic and molecular genetic investigations in the definition of mosaicism in Turner syndrome.

  13. Relationship between Fractional Exhaled Nitric Oxide Level and Efficacy of Inhaled Corticosteroid in Asthma-COPD Overlap Syndrome Patients with Different Disease Severity

    PubMed Central

    2017-01-01

    This study explored the relationship between the fractional exhaled nitric oxide (FeNO) level and the efficacy of inhaled corticosteroid (ICS) in asthma-chronic obstructive pulmonary disease (COPD) overlap syndrome (ACOS) patients with different disease severity. A total of 127 ACOS patients with ACOS (case group) and 131 healthy people (control group) were enrolled in this study. Based on the severity of COPD, the ACOS patients were divided into: mild ACOS; moderate ACOS; severe ACOS; and extremely severe ACOS groups. We compared FeNO levels, pulmonary function parameters including percentage of forced expiratory volume in 1 second (FEV1) to predicted value (FEV1%pred), ratio of FEV1 to forced vital capacity (FEV1/FVC), inspiratory capacity to total lung capacity (IC/TLC) and residual volume to total lung capacity (RV/TLC), arterial blood gas parameters, including PH, arterial partial pressure of oxygen (PaO2) and arterial partial pressure of carbon dioxide (PaCO2), total serum immunoglobulin E (IgE), induced sputum eosinophil (EOS), plasma surfactant protein A (SP-A), plasma soluble receptor for advanced glycation end products (sRAGE), sputum myeloperoxidase (MPO), sputum neutrophil gelatinase-associated lipocalin (NGAL) and Asthma Control Test (ACT) scores, and COPD Assessment Test (CAT) scores. Compared with pre-treatment parameters, the FeNO levels, RV/TLC, PaCO2, total serum IgE, induced sputum EOS, plasma SP-A, sputum MPO, sputum NGAL, and CAT scores were significantly decreased after 6 months of ICS treatment, while FEV1%pred, FEV1/FVC, IC/TLC, PH, PaO2, plasma sRAGE, and ACT scores were significantly increased in ACOS patients with different disease severity after 6 months of ICS treatment. This finding suggests that the FeNO level may accurately predict the efficacy of ICS in the treatment of ACOS patients. PMID:28145647

  14. Computer quantification of “angle of collapse” on maximum expiratory flow volume curve for diagnosing asthma-COPD overlap syndrome

    PubMed Central

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

    2016-01-01

    Background In a previous study, we demonstrated that asthma patients with signs of emphysema on quantitative computed tomography (CT) fulfill the diagnosis of asthma-COPD overlap syndrome (ACOS). However, quantitative CT measurements of emphysema are not routinely available for patients with chronic airway disease, which limits their application. Spirometry was a widely used examination tool in clinical settings and shows emphysema as a sharp angle in the maximum expiratory flow volume (MEFV) curve, called the “angle of collapse (AC)”. The aim of this study was to investigate the value of the AC in the diagnosis of emphysema and ACOS. Methods This study included 716 participants: 151 asthma patients, 173 COPD patients, and 392 normal control subjects. All the participants underwent pulmonary function tests. COPD and asthma patients also underwent quantitative CT measurements of emphysema. The AC was measured using computer models based on Matlab software. The value of the AC in the diagnosis of emphysema and ACOS was evaluated using receiver-operating characteristic (ROC) curve analysis. Results The AC of COPD patients was significantly lower than that of asthma patients and control subjects. The AC was significantly negatively correlated with emphysema index (EI; r=−0.666, P<0.001), and patients with high EI had a lower AC than those with low EI. The ROC curve analysis showed that the AC had higher diagnostic efficiency for high EI (area under the curve =0.876) than did other spirometry parameters. In asthma patients, using the AC ≤137° as a surrogate criterion for the diagnosis of ACOS, the sensitivity and specificity were 62.5% and 89.1%, respectively. Conclusion The AC on the MEFV curve quantified by computer models correlates with the extent of emphysema. The AC may become a surrogate marker for the diagnosis of emphysema and help to diagnose ACOS. PMID:27942211

  15. 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.

  16. 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

  17. Asthma–COPD overlap syndrome in the US: a prospective population-based analysis of patient-reported outcomes and health care utilization

    PubMed Central

    Vaz Fragoso, Carlos A; Murphy, Terrence E; Agogo, George O; Allore, Heather G; McAvay, Gail J

    2017-01-01

    Background Prior work suggests that asthma–COPD overlap syndrome (ACOS) has a greater health burden than asthma alone or COPD alone. In the current study, we have further evaluated the health burden of ACOS in a nationally representative sample of the US population, focusing on patient-reported outcomes and health care utilization and on comparisons with asthma alone and COPD alone. Patient-reported outcomes are especially meaningful, as these include functional activities that are highly valued by patients and are the basis for patient-centered care. Methods Using data from the Medical Expenditure Panel Survey (MEPS), we evaluated patient-reported outcomes and health care utilization among participants who were aged 40–85 years and had self-reported, physician-diagnosed asthma or COPD. MEPS administered five rounds of interviews, at baseline and approximately every 6 months over 2.5 years. Patient-reported outcomes included activities of daily living (ADLs), mobility, social/recreational activities, disability days in bed, and health status (Short Form 12, Version 2). Health care utilization included outpatient and emergency department (ED) visits, and hospitalization. Results Of 3,486 participants with asthma or COPD, 1,585 (45.4%) had asthma alone, 1,294 (37.1%) had COPD alone, and 607 (17.4%) had ACOS. Relative to asthma alone, ACOS was significantly associated with higher odds of prevalent disability in ADLs and limitations in mobility and social/recreational activities (adjusted odds ratios [adjORs]: 1.91–3.98), as well as with higher odds of incident limitations in mobility and social/recreational activities, disability days in bed, and respiratory-based outpatient and ED visits, and hospitalization (adjORs: 1.86–2.35). In addition, ACOS had significantly worse physical and mental health scores than asthma alone (P-values <0.0001). Relative to COPD alone, ACOS was significantly associated with higher odds of prevalent limitations in mobility and

  18. Fractional exhaled nitric oxide levels in asthma–COPD overlap syndrome: analysis of the National Health and Nutrition Examination Survey, 2007–2012

    PubMed Central

    Goto, Tadahiro; Camargo, Carlos A; Hasegawa, Kohei

    2016-01-01

    Purpose Recent studies propose TH2-mediated inflammation in patients with asthma–chronic obstructive pulmonary disease (COPD) overlap syndrome (ACOS). However, little is known about whether fractional exhaled nitric oxide (FeNO) differs between patients with ACOS and those with COPD alone. To address this knowledge gap, a nationally representative sample was analyzed to determine the difference in FeNO levels between patients with ACOS and those with COPD alone in the US population. Patients and methods This is a cross-sectional analysis of the National Health and Nutrition Examination Survey from 2007 through 2012. All subjects aged ≥40 years with COPD were identified. ACOS was defined as self-reported wheezing in past 12 months plus bronchodilator response (forced expiratory volume increase of >200 mL and >12%) or self-reported physician diagnosis of asthma. Results A total of 197 subjects with COPD were identified in the National Health and Nutrition Examination Survey. Of these, 23% met the criteria of ACOS. The FeNO level was higher in subjects with ACOS compared with those with COPD alone in both unadjusted (mean 21.2 ppb vs 13.0 ppb; difference, 8.2 [95% CI, 0.2 to 16.2]; P=0.045) and adjusted (difference, 8.2 [95% CI, 0.9 to 15.5]; P=0.03) analyses. Although there was no significant difference among current smokers, the FeNO level was significantly higher in non-current smokers with ACOS than nonsmokers with COPD alone (mean 31.9 ppb vs 20.3 ppb; adjusted difference, 20.5 [95% CI, 4.4 to 36.6]; P=0.02). In a sensitivity analysis using an alternative definition of ACOS, the results did not change materially. The diagnostic value of FeNO to discriminate ACOS from COPD alone was not sufficient, with the area under the curve of 0.63 (95% CI, 0.54 to 0.72). Conclusion By using nationally representative US data, it was found that 23% of COPD subjects met the ACOS criteria and also that the FeNO level was higher in subjects with ACOS compared with those with

  19. 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.

  20. 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.

  1. Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes

    PubMed Central

    2009-01-01

    Background Anophthalmia and microphthalmia are etiologically and clinically heterogeneous. Lenz microphthalmia is a syndromic form that is typically inherited in an X-linked pattern, though the causative gene mutation is unknown. Townes-Brocks syndrome manifests thumb anomalies, imperforate anus, and ear anomalies. We present a 13-year-old boy with a syndromic microphthalmia phenotype and a clinical diagnosis of Lenz microphthalmia syndrome. Case Presentation The patient was subjected to clinical and molecular evaluation, including array CGH analysis. The clinical features included left clinical anophthalmia, right microphthalmia, anteriorly placed anus with fistula, chordee, ventriculoseptal defect, patent ductus arteriosus, posteriorly rotated ears, hypotonia, growth retardation with delayed bone age, and mental retardation. The patient was found to have an approximately 5.6 Mb deletion of 16q11.2q12.1 by microarray based-comparative genomic hybridization, which includes the SALL1 gene, which causes Townes-Brocks syndrome. Conclusions Deletions of 16q11.2q12.2 have been reported in several individuals, although those prior reports did not note microphthalmia or anophthalmia. This region includes SALL1, which causes Townes-Brocks syndrome. In retrospect, this child has a number of features that can be explained by the SALL1 deletion, although it is not clear if the microphthalmia is a rare feature of Townes-Brocks syndrome or caused by other mechanisms. These data suggest that rare copy number changes may be a cause of syndromic microphthalmia allowing a personalized genomic medicine approach to the care of patients with these aberrations. PMID:20003547

  2. 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)

  3. Paraneoplastic brainstem encephalomyelitis and atypical form of chronic inflammatory demyelinating polyneuropathy in patient with testicular germinal tumor-is this an overlap syndrome? a case report.

    PubMed

    Gogol, Paweł; Gogol, Anna; Opuchlik, Andrzej; Dziewulska, Dorota

    2015-01-01

    Paraneoplastic neurologic syndromes are diagnosed when neurologic symptoms are associated with neoplasm and other causative factors are excluded. They may precede or be simultaneous to various types of neoplasms, mainly malignant. In men up to 45-50 years old the most common cancer causing the paraneoplastic syndrome is testicle tumor, manifesting usually as limbic/brain stem encephalitis and myelitis. Usually effective treatment of underlying neoplasm brings resolution of neurologic symptoms. But corticosteroids and intravenuous immunoglobulins are also used. In the presented case a 37-year-old man was primarily diagnosed and treated for progressive tetraparesis with signs of both upper and lower motor neuron dysfunction, associated with bulbar symptoms. Having various diagnostic procedures performed an atypical form of chronic inflammatory demyelinating polyradiculoneuronopathy was primarily suspected, but eventually a discovery of endodermal sinus tumor in the testicle enabled to state the diagnosis of possible paraneoplastic syndrome. In spite of chemotherapy the patient died shortly after the diagnosis because of infectious complications. Histopathology displayed intense inflammatory changes in the brain stem as well as in cranial nerves and cervical spinal cord. The same immunological process evoked by various pathogenetic factors (infection vs. neoplasm) may cause similar clinical picture and hinder the diagnosis. Most importantly it may delay the proper way of treatment.

  4. Genetics Home Reference: Proteus syndrome

    MedlinePlus

    ... 95. Review. Citation on PubMed Cohen MM Jr, Turner JT, Biesecker LG. Proteus syndrome: misdiagnosis with PTEN mutations. Am J Med Genet ... on PubMed or Free article on PubMed ... of the Proteus syndrome literature: application of diagnostic criteria to published cases. ...

  5. 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)

  6. [Hydrops fetalis associated with Noonan syndrome].

    PubMed

    Paupe, A; Chassevent, J; Lenclen, R; Blanc, P; Carbajal, R; Hoenn, E; Olivier-Martin, M

    1991-01-01

    A case of Noonan syndrome associated with hydrops fetalis has been reported; it is recalled that morphological anomalies common to both Turner and Noonan syndromes depend on similar lymphatic anomalies. In the present case it is therefore proposed that the malformations of Noonan syndrome and hydrops fetalis proceed from the same lymphatic anomalies.

  7. De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions

    PubMed Central

    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.

    2016-01-01

    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

  8. 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

    2016-05-05

    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.

  9. Steganalysis of overlapping images

    NASA Astrophysics Data System (ADS)

    Whitaker, James M.; Ker, Andrew D.

    2015-03-01

    We examine whether steganographic images can be detected more reliably when there exist other images, taken with the same camera under the same conditions, of the same scene. We argue that such a circumstance is realistic and likely in practice. In `laboratory conditions' mimicking circumstances favourable to the analyst, and with a custom set of digital images which capture the same scenes with controlled amounts of overlap, we use an overlapping reference image to calibrate steganographic features of the image under analysis. Experimental results show that the analysed image can be classified as cover or stego with much greater reliability than traditional steganalysis not exploiting overlapping content, and the improvement in reliability depends on the amount of overlap. These results are curious because two different photographs of exactly the same scene, taken only a few seconds apart with a fixed camera and settings, typically have steganographic features that differ by considerably more than a cover and stego image.

  10. Atypical chronic lymphocytic inflammation with pontocerebellar perivascular enhancement responsive to steroids (CLIPPERS), primary angiitis of the CNS mimicking CLIPPERS or overlap syndrome? A case report.

    PubMed

    Buttmann, Mathias; Metz, Imke; Brecht, Isabel; Brück, Wolfgang; Warmuth-Metz, Monika

    2013-01-15

    A novel type of encephalomyelitis was first described as chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) in 2010 and few additional patients were reported since then. Partially due to its unknown aetiology and a lack of pathognomonic features some have suggested that CLIPPERS may not represent a distinct disease, but rather a syndrome with different underlying aetiologies. Here we report a 49-year-old German female who presented with a number of clinical and paraclinical features described as typical for CLIPPERS, while additionally showing symptoms and findings compatible with primary angiitis of the CNS (PACNS). This case may establish a previously unnoted link between two poorly understood autoimmune conditions of the CNS.

  11. Genetics Home Reference: Birt-Hogg-Dubé syndrome

    MedlinePlus

    ... Nickerson ML, Weirich G, Matrosova V, Toro JR, Turner ML, Duray P, Merino M, Hewitt S, Pavlovich CP, Glenn G, Greenberg CR, Linehan WM, Zbar B. Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney ...

  12. 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.

  13. 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.

  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. Current situation of asthma-COPD overlap syndrome (ACOS) in Chinese patients older than 40 years with airflow limitation: rationale and design for a multicenter, cross-sectional trial (study protocol)

    PubMed Central

    Yao, Wanzhen; Cai, Baiqiang; Chen, Ping; Ling, Xia; Shang, Hongyan

    2016-01-01

    Background Asthma and chronic obstructive pulmonary disease (COPD) are the frequently occurring chronic airway diseases, and the overlapping syndrome observed in the majority of patients has been recently defined as asthma-COPD overlap syndrome (ACOS) by the Global Initiative for Chronic Obstructive Lung (GOLD, 2014) and Global initiative for Asthma (GINA, 2015). The proportion, features, and clinical practice of ACOS still remain elusive in China. We are conducting this multicenter, cross-sectional, observational study (NCT02600221) to investigate the distributions of chronic obstructive diseases in patients >40 years of age with chronic airflow limitation in China along with determination of the main clinical practice and features of these diseases. The study will also explore the factors that may influence the exacerbations and severity of ACOS in Chinese patients (>40 years of age). Methods A total of 2,000 patients (age, ≥40 years; either sex) who are clinically diagnosed as having asthma, COPD/chronic bronchitis/emphysema, or ACOS for at least 12 months with airflow limitation [post-bronchodilator forced expiratory volume in 1 second/forced vital capacity (FEV1/FVC): <0.7] will be enrolled from approximately 20 sites in China between December 2015 and December 2016. The proportion of ACOS among patients older than 40 years based on GINA 2015 and GOLD 2014 definitions is the primary variable. Following were the secondary variables: the proportions of COPD and asthma among the patients, distributions of the severity of airflow limitation, distribution of groups according to GOLD 2011 group definition (A, B, C, D), and the distribution of medication by drug class in patients with ACOS, asthma, and COPD. Acute exacerbation history, hospitalization, and severity of ACOS as evaluated using COPD Assessment Test, Asthma Control Questionnaire-5, and Modified British Medical Research Council in patients with ACOS were also assessed. Implications This will be the

  16. Lower limb lengthening in turner dwarfism.

    PubMed

    Hahn, Soo Bong; Park, Hui Wan; Park, Hong Jun; Seo, Young Jin; Kim, Hyun Woo

    2003-06-30

    The aim of this study was to review our cases of lower limb lengthening to treat Turner dwarfism, and to speculate whether or not effective limb lengthening can be achieved in this rare condition. Twelve tibiae and 2 femora were lengthened in 6 patients using the Ilizarov method for the tibia and a gradual elongation nail for the femur. The mean age at the time of surgery was 19 years, and the patients were followed up for a minimum of 2 years. The average gain in the tibial and femoral length was 6.2 cm and 6.0 cm, respectively. The average healing index of tibia and femur was 1.9 and 1.7 months. The average tibia-to-femur ratio improved from 0.68 preoperatively to 0.81 postoperatively, and leg-trunk ratios improved from 0.88 to 0.99. Seven segments (50.0 percent) had completed the lengthening protocol without complications. Two segments (14.3 percent) had an intractable pin site infection requiring a pin exchange, and four segments (35.7 percent) had twelve complications (a nonunion at the distraction site, premature consolidation, Achilles tendon contractures and planovalgus). The overall rate of complications was 100 percent for each bone lengthened. All the patients showing a nonunion at the distraction site had a reduced bone mass, which was less than 65 percent of those of the age-matched normal population. Despite the complications, all patients were satisfied with the results, and lower limb lengthening in Turner Dwarfism believed to be a valid option. However, it may require careful management in a specialist unit in order to prevent complications during the lengthening procedure. In addition, the osteopenia associated with an estrogen deficiency leading to problems in consolidation is a difficult issue to address.

  17. The sub-peritoneal arterial plexus of Sir William Turner.

    PubMed

    Shoja, Mohammadali M; Tubbs, R Shane; Loukas, Marious; Shokouhi, Ghaffar; Ghabili, Kamyar; Agutter, Paul S

    2010-08-20

    Sir William Turner (1832-1916) was Professor of Anatomy at the University of Edinburgh. His classic paper of 1863 on the anastomoses between the parietal and visceral branches of the abdominal aorta, later known as the sub-peritoneal arterial plexus of Turner, has mostly been forgotten. Located in the retroperitoneum and surrounding the kidneys and other adjacent structures, this plexus is an important route of collateral circulation. In the current paper, we discuss the sub-peritoneal arterial plexus as described by Turner in 1863 and review the literature concerning its potential clinical significance in the kidney, emphasizing its probable role in the metastatic spread of various tumors of abdominal organs and in the continuing viability of the kidney after renal artery occlusion. A biographical sketch of Sir William Turner is also presented.

  18. Distal tibiofibular radiological overlap

    PubMed Central

    Sowman, B.; Radic, R.; Kuster, M.; Yates, P.; Breidiel, B.; Karamfilef, S.

    2012-01-01

    Objectives Overlap between the distal tibia and fibula has always been quoted to be positive. If the value is not positive then an injury to the syndesmosis is thought to exist. Our null hypothesis is that it is a normal variant in the adult population. Methods We looked at axial CT scans of the ankle in 325 patients for the presence of overlap between the distal tibia and fibula. Where we thought this was possible we reconstructed the images to represent a plain film radiograph which we were able to rotate and view in multiple planes to confirm the assessment. Results The scans were taken for reasons other than pathology of the ankle. We found there was no overlap in four patients. These patients were then questioned about previous injury, trauma, surgery or pain, in order to exclude underlying pathology. Conclusion We concluded that no overlap between the tibia and fibula may exist in the population, albeit in a very small proportion. PMID:23610666

  19. 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)

  20. Molecular characterization of an autoantigen of PM-Scl in the polymyositis/scleroderma overlap syndrome: a unique and complete human cDNA encoding an apparent 75-kD acidic protein of the nucleolar complex

    PubMed Central

    1991-01-01

    About 50% of patients with the polymyositis/scleroderma (PM-Scl) overlap syndrome are reported to have autoantibodies to a nuclear/nucleolar particle termed PM-Scl. The particle is composed of several polypeptides of which two have been identified as autoantigens. In this report, human cDNA clone coding for the entire 75-kD autoantigen of the PM-Scl particle (PM-Scl 75) was isolated from a MOLT- 4 lambda gt-11 library. The deduced amino acid sequence of the cDNA clone represented a protein of 355 amino acids and 39.2 kD; the in vitro translation product of this cDNA migrated in sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) at approximately 70 kD. The aberrant migration of the polypeptide in SDS-PAGE was shown to be related to the COOH half that was rich in acidic residues. Authenticity of the cDNA coding for PM-Scl 75 was shown by immunoreactivity of PM-Scl sera with in vitro translation products and recombinant fusion proteins encoded by the cDNA. In addition, rabbit antibodies raised to recombinant fusion protein reacted in immunofluorescence, immunoblotting, and immunoprecipitation with the characteristic features displayed by human anti-PM-Scl sera. PMID:2007859

  1. Unraveling the Pathophysiology of the Asthma-COPD Overlap Syndrome: Unsuspected Mild Centrilobular Emphysema Is Responsible for Loss of Lung Elastic Recoil in Never Smokers With Asthma With Persistent Expiratory Airflow Limitation.

    PubMed

    Gelb, Arthur F; Yamamoto, Alfred; Verbeken, Eric K; Nadel, Jay A

    2015-08-01

    Investigators believe most patients with asthma have reversible airflow obstruction with treatment, despite airway remodeling and hyperresponsiveness. There are smokers with chronic expiratory airflow obstruction despite treatment who have features of both asthma and COPD. Some investigators refer to this conundrum as the asthma-COPD overlap syndrome (ACOS). Furthermore, a subset of treated nonsmokers with moderate to severe asthma have persistent expiratory airflow limitation, despite partial reversibility. This residuum has been assumed to be due to large and especially small airway remodeling. Alternatively, we and others have described reversible loss of lung elastic recoil in acute and persistent loss in patients with moderate to severe chronic asthma who never smoked and its adverse effect on maximal expiratory airflow. The mechanism(s) responsible for loss of lung elastic recoil and persistent expiratory airflow limitation in nonsmokers with chronic asthma consistent with ACOS remain unknown in the absence of structure-function studies. Recently we reported a new pathophysiologic observation in 10 treated never smokers with asthma with persistent expiratory airflow obstruction, despite partial reversibility: All 10 patients with asthma had a significant decrease in lung elastic recoil, and unsuspected, microscopic mild centrilobular emphysema was noted in all three autopsies obtained although it was not easily identified on lung CT scan. These sentinel pathophysiologic observations need to be confirmed to further unravel the epiphenomenon of ACOS. The proinflammatory and proteolytic mechanism(s) leading to lung tissue breakdown need to be further investigated.

  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.

  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. The Plate Overlap Technique.

    DTIC Science & Technology

    1978-07-31

    INTRODUCTION 1 II. NOTATION 2 III. THE GNOMONIC PROJECTION 4 IV . THE PLATE OVERLAP TECHNIQUE 6 A. MOTIVATION 6 B. FORNULATION 9 C. ON STATISTICAL RIGOR 14 D...and new hardware. Since this aim was clearly recognized long ago, wherever possible in earlier documents or software development flexibility was...reader should see 1, 2, and 3. The procedures one should use to update stellar positions are discussed in 4 with applica- tions to the SAOC in 5. Non

  5. Turner phenotype in mother and daughter.

    PubMed

    Muasher, S; Baramki, T A; Diggs, E S

    1980-12-01

    Two females are described, mother and daughter, who had the Turner phenotype and spontaneous sexual development. The mother is short and had ovulatory menstrual cycles, normal breast development, X-chromatin negative buccal smear, 45,X chromosomal pattern in her peripheral blood lymphocytes, and 45,X/46,X,r(X) mosaicism in her skin, with the majority of the cells (85%) showing X monosomy. She had a successful uncomplicated pregnancy at the age of 25 years. The daughter is short and had spontaneous sexual development, including menstruation at the age of 15 years. Her buccal smear was X-chromatin negative and karyotypes from peripheral blood lymphocytes and skin fibroblasts showed a 45,X chromosome constitution. Her menstrual cycles are irregular and, most probably, anovulatory. She has a horseshoe kidney. Six women with a 45, X chromosome complement are known to have delivered normal infants with no chromosomal abnormality. Five children with 45,X mosaicism have been born to mothers with 45,X mosaicism; all had a 46,XX cell line as well. This is the first report of a 45,X female born to a mother with mosaicism composed of 2 abnormal cell lines, 1 with X monosomy and 1 with a ring X chromosome.

  6. Turner syndrome and 45,X/47,XXX mosaicism.

    PubMed

    Akbas, E; Mutluhan, H; Savasoglu, K; Soylemez, F; Ozturk, I; Yazici, G

    2009-01-01

    The occurrence of double aneuploidy is a relatively rare phenomenon. We report on a 17-year-old woman with short stature, minimal pubic and axillar hair and short hands. In cultured lymphocyte a double aneuploidy mosaicism was detected, consisting of a cell line with trisomy for X chromosome and a cell line with monosomy for the X-chromosome and no cell line with a normal karyotype. To our knowledge, this is the first case of mosaic 45,X/47,XXX in Turkey.

  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

    Huang, Ai-Xia; Lu, Li-Wen; Liu, Wen-Juan; Huang, Mao

    2016-08-09

    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 AND 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.

  8. Status of astigmatism-corrected Czerny-Turner spectrometers

    NASA Astrophysics Data System (ADS)

    Li, Xinhang; Dong, Keyan; An, Yan; Wang, Zhenye

    2016-10-01

    In order to analysis and design the Czerny-Turner structure spectrometer with the high resolution and high energy reception, various astigmatism methods of the Czerny-Turner structure are reported. According to the location of plane grating, the astigmatism correction methods are divided into two categories, one is the plane grating in divergent illumination, another is the plane grating in parallel illumination. Basing on the different methods, the anastigmatic principle and methods are analyzed, the merits and demerits of the above methods are summarized and evaluated. The theoretical foundation for design of broadband eliminating astigmatism Czerny-Turner spectrometer and the reference value for the further design work are laid by the summary and analyzing in this paper.

  9. A new infant case of Nakajo-Nishimura syndrome with a genetic mutation in the immunoproteasome subunit: an overlapping entity with JMP and CANDLE syndrome related to PSMB8 mutations.

    PubMed

    Kunimoto, Kayo; Kimura, Ayako; Uede, Koji; Okuda, Masumi; Aoyagi, Noriyuki; Furukawa, Fukumi; Kanazawa, Nobuo

    2013-01-01

    Nakajo-Nishimura syndrome (NNS) is a very rare hereditary autoinflammatory disorder that generally has its onset in infancy with pernio-like rashes and gradually develops into partial lipodystrophy. A distinct homozygous PSMB8 mutation encoding an immunoproteasome subunit has recently been identified as its genetic cause. Here, we report a new case of a patient with NNS who developed exudative erythemas on his face and extremities at 2 months of age, along with high fever, elevated serum hepatic aminotransferase levels and hepatosplenomegaly. Massive infiltration of inflammatory cells was observed histologically in the dermis and subcutis without apparent leukocytoclastic vasculitis. These symptoms improved with oral corticosteroids but recurred periodically, and a thin angular face with long clubbed fingers gradually developed. Identification of the PSMB8 mutation finalized the diagnosis of NNS at 5 years of age. Understanding a variety of clinicopathological features at the developmental stages is necessary to make an early diagnosis of NNS.

  10. Overlaps between Frailty and Sarcopenia Definitions.

    PubMed

    Cederholm, Tommy

    2015-01-01

    Aging is characterized by the catabolism of muscles leading to sarcopenia and frailty. These are two geriatric syndromes with partly overlapping phenotypes. Primary sarcopenia, i.e. loss of muscle mass and function related to aging alone, usually precedes frailty. Thus, robustness passes from sarcopenia over frailty to disability leading eventually to a mortal outcome. Frailty (defined according to the phenotype model) encompasses states as exhaustion, weakness, and slowness, whereas sarcopenia, combining mass and function, is more strictly focused on muscles. Frailty is age related, whereas sarcopenia is also related to disease, starvation, and disuse. In general, the criteria for the two conditions overlap, but frailty requires weight loss, whereas sarcopenia requires muscle loss. Both gait speed and hand grip strength are suggested to be used as diagnostic measures for the two conditions since muscle function is crucial for any of the two syndromes. It is suggested that frailty screening should be part of the geriatric comprehensive assessment starting with measuring walking capacity and complemented by taking a history of fatigue and low activity. For younger adults (i.e. <70 years), sarcopenia screening could first register gait speed or hand grip strength and then body composition measurements. Simple questionnaires are feasible clinical alternatives. Treatment of frailty and sarcopenia overlaps, i.e. provide adequate protein and vitamin D supplementation, and encourage resistance exercise.

  11. Neutron spin turners with a rotating magnetic field: first experiments

    NASA Astrophysics Data System (ADS)

    Bodnarchuk, V. I.; Kraan, W. H.; Rekveldt, M. T.; Ioffe, A.

    2008-03-01

    Spin turners are the key elements of a neutron spin-echo spectrometer with rotating magnetic fields. Here we describe the results of experiments with thin-film spin turners made of 25 µm amorphous ferromagnetic foils, whose in-plane magnetization is rotated by a weak external rotating field. The behaviour of the polarization vector of a 0.2 nm neutron beam is analysed in 3D after transmission through such a foil and, apart from a non-negligible depolarization, the results show that they are in good accordance with simulations. This observed depolarization is due to a domain structure with a net magnetization.

  12. 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.

  13. Gonadoblastoma with Dysgerminoma in a Phenotypically Turner-Like Girl with 45,X/46,XY Karyotype

    PubMed Central

    Yüce, Özge; Döğer, Esra; Çelik, Nurullah; Emeksiz, Hamdi Cihan; Çamurdan, Mahmut Orhun; Bideci, Aysun; Cinaz, Peyami

    2015-01-01

    Individuals with 45,X/46,XY karyotype are at increased risk for germ cell tumor development. We report a case with a diagnosis of 45,X/46,XY gonadal dysgenesis who presented with short stature, physical stigmata of Turner syndrome. Her pubertal development was at Tanner stage 3. At follow-up, bilateral prophylactic gonadectomy was performed when considering the risk factors. Pathological assessment was consistent with gonadoblastoma in the left gonad, and dysgerminoma and gonadoblastoma in neighboring areas in the right gonad. The karyotype analysis of the right and left gonadal tissues reveled 45,X[97,3]/46,XY[2,7] and 45,X[92,7]/46,XY[4,5]/47,XYY [2,8] mosaic, respectively. The clinical management of such patient should be individualized according to the present risk factors. Additionally, signs of estrogenization like advanced breast development always suggest the possible presence of germ cell tumor. PMID:26777047

  14. Gonadoblastoma with Dysgerminoma in a Phenotypically Turner-Like Girl with 45,X/46,XY Karyotype.

    PubMed

    Yüce, Özge; Döğer, Esra; Çelik, Nurullah; Emeksiz, Hamdi Cihan; Çamurdan, Mahmut Orhun; Bideci, Aysun; Cinaz, Peyami

    2015-12-01

    Individuals with 45,X/46,XY karyotype are at increased risk for germ cell tumor development. We report a case with a diagnosis of 45,X/46,XY gonadal dysgenesis who presented with short stature, physical stigmata of Turner syndrome. Her pubertal development was at Tanner stage 3. At follow-up, bilateral prophylactic gonadectomy was performed when considering the risk factors. Pathological assessment was consistent with gonadoblastoma in the left gonad, and dysgerminoma and gonadoblastoma in neighboring areas in the right gonad. The karyotype analysis of the right and left gonadal tissues reveled 45,X[97,3]/46,XY[2,7] and 45,X[92,7]/46,XY[4,5]/47,XYY [2,8] mosaic, respectively. The clinical management of such patient should be individualized according to the present risk factors. Additionally, signs of estrogenization like advanced breast development always suggest the possible presence of germ cell tumor.

  15. Premenstrual Syndrome (PMS) FAQ

    MedlinePlus

    ... syndrome irritable bowel syndrome thyroid disease Depression and anxiety disorders are the most common conditions that overlap with PMS. About one half of women seeking treatment for PMS have one of these ...

  16. 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.

  17. Clinical management of myelodysplastic syndrome/myeloproliferative neoplasm overlap syndromes

    PubMed Central

    Clara, Joseph A.; Sallman, David A.; Padron, Eric

    2016-01-01

    The myelodysplastic/myeloproliferative neoplasms (MDS/MPNs) are a unique group of hematologic malignancies characterized by concomitant myelodysplastic and myeloproliferative features. According to the 2008 WHO classification, the category includes atypical chronic myeloid leukemia (aCML), chronic myelomonocytic leukemia (CMML), juvenile myelomonocytic leukemia (JMML), MDS/MPN-unclassifiable (MDS/MPN-U), and the provisional entity refractory anemia with ring sideroblasts and thrombocytosis (RARS-T). Although diagnosis currently remains based on clinicopathologic features, the incorporation of next-generation platforms has allowed for the recent molecular characterization of these diseases which has revealed unique and complex mutational profiles that support their distinct biology and is anticipated to soon play an integral role in diagnosis, prognostication, and treatment. Future goals of research should include the development of disease-modifying therapies, and further genetic understanding of the category will likely form the foundation of these efforts. PMID:27807503

  18. 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.

  19. 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…

  20. 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…

  1. 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.

  2. An evaluation of the Sequoia-Turner Cell Dyn 900.

    PubMed

    Hinchliffe, R F; Laycock, B J; Clark, S J; Morton, J; Anderson, L M; Lilleyman, J S

    1985-01-01

    A formal evaluation of the Sequoia-Turner Cell Dyn 900, a compact eight-parameter semi-automated blood cell counter, was carried out in a small paediatric haematology laboratory. The instrument's precision, linearity and carry-over were adequate. Comparison with a Coulter ZF6 system plus visual platelet count showed good agreement, and results in the UK National External Quality Assessment Scheme also compared well with 'all methods' values. Throughput was assessed at 54 eight-parameter counts per hour. The machine proved to be reasonably economical, highly reliable and easy to operate. It was popular with staff and can be recommended, particularly for the smaller laboratory.

  3. Dicentric Chromosome 14;18 Plus Two Additional CNVs in a Girl with Microform Holoprosencephaly and Turner Stigmata.

    PubMed

    Sireteanu, A; Voloşciuc, M; Grămescu, M; Gorduza, Ev; Vulpoi, C; Frunză, I; Rusu, C

    2013-12-01

    We report a 20-year-old female with features evocative of Turner syndrome (short stature, broad trunk, mild webbed neck), dysmorphic face, minor features of holo-prosencephaly (HPE), small hands and feet, excessive hair growth on anterior trunk and intellectual disability. Cytogenetic analysis identified a pseudodicentric 14;18 chromosome. Genome wide single nucleotide polymorphism (SNP) array showed a terminal deletion of approximately 10.24 Mb, from 18p11.32 to 18p11.22, flanked by a duplication of approximately 1.15 Mb, from 18p11.22 to 18p11.21. In addition, the SNP array revealed a duplication of 516 kb in 16p11.2. We correlated the patient's clinical findings with the features mentioned in the literature for these copy number variations. This case study shows the importance of microarray analysis in the detection of cryptic chromosomal rearrangements in patients with intellectual disability and multiple congenital anomalies.

  4. Genetic Considerations in the Patient with Turner Syndrome—45,X with or without Mosaicism

    PubMed Central

    Zhong, Quincy; Layman, Lawrence C.

    2012-01-01

    Turner syndrome (TS) is a complex developmental disorder in individuals with short stature who possess a 45,X cell line, with or without mosaicism. Since the single X chromosome is maternally derived in 80%, the genesis of the 45,X karyotype is due to instability of the Y chromosome leading to its loss during meiosis. Phenotypic features vary depending upon the mode of ascertainment, with postnatal presentation usually generating a more severe phenotype than a prenatal one. Although patients with pure 45,X present with delayed puberty more often than those with 46,XX or 47,XXX cell lines, the chromosomal complement cannot reliably predict the clinical presentation. Most living TS patients are mosaics, while nearly all first trimester TS fetuses have single 45,X cell line. Exclusion of a Ycell line, the presence of which increases the risk of gonadoblastomas and subsequent gonadal germ cell tumors, is best accomplished by karyotype, fluorescent in situ hybridization, and DNA analysis if necessary. The precise genetic etiology of TS has not been elucidated, but it does appear that deletion of the short arm of the X chromosome is sufficient to result in the TS phenotype, thereby implicating haploinsufficiency of multiple genes including SHOX. PMID:23020909

  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.

  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. Sir William Turner (1832-1916) - Lancastrian, anatomist and champion of the Victorian era.

    PubMed

    Wessels, Quenton; Correia, Janine Carla; Taylor, Adam M

    2016-11-01

    Sir William Turner, a Lancastrian, was renowned as a scientist, anatomist and a great reformer of medical education. His students became anatomists at various international institutions, which consequently shaped the future of anatomy as a subject matter both in the United Kingdom and in South Africa. Although Turner's accomplishments have been documented, little is known about the details that determined his career path and the individuals that shaped his future. Here the authors aim to highlight some aspects of Turner's academic achievements and his personal life as well as how he crossed paths with other great minds of the Victorian era including Richard Owen, Charles Darwin, James Paget and Joseph Lister.

  8. 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

  9. Spectral resolution measurement technique for Czerny-Turner spectrometers based on spectral interferometry

    NASA Astrophysics Data System (ADS)

    Contreras Martínez, Ramiro; Garduño Mejía, Jesús; Rosete Aguilar, Martha; Román Moreno, Carlos J.

    2016-08-01

    We propose the design of a new technique for measuring the spectral resolution of a Czerny-Turner Spectrometer based on spectral interferometry of ultrashort laser pulses. It is well known that ultrashort pulse measurement like SPIDER and TADPOLE techniques requires a precise and well characterized spectrum, especially in fringe resolution. We developed a new technique, to our knowledge, in which by measuring the nominal fringe spacing of a spectral interferogram one can characterize the spectral resolution in a Czerny-Turner spectrometer using Ryleigh's criteria. This technique was tested in a commercial Czerny-Turner spectrometer. The results demonstrate a consistent spectral resolution between what was reported by the manufacturer. The actual calibration technique was applied in a homemade broadband astigmatism-free Czerny-Turner spectrometer. Theory and experimental results are presented.

  10. 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)

  11. 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.

  12. 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.

  13. Overlapping structures in sensory-motor mappings.

    PubMed

    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.

  14. 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

  15. Genetics Home Reference: Hajdu-Cheney syndrome

    MedlinePlus

    ... overlap significantly with those of a condition called serpentine fibula-polycystic kidney syndrome (SFPKS). Although they used ... familial osteodysplasia hereditary osteodysplasia with acro-osteolysis HJCYS serpentine fibula-polycystic kidney syndrome SFPKS Related Information How ...

  16. 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

  17. Surveying the landscape of MDS/MPN research: overlap among the overlap syndromes?

    PubMed

    Padron, Eric

    2015-01-01

    The myelodysplastic/myeloproliferative neoplasms (MDS/MPNs) lie at the interphase of phenotypically opposing bone marrow malignancies. They are characterized by concomitant features of bone marrow failure and myeloproliferation and are generally associated with a poor prognosis. Although much is unknown with respect to the clinical course and molecular biology of MDS/MPNs, emerging research is beginning to uncover the key defining characteristics of this designation. In this review, we will discuss the features of MDS/MPN diseases that unify there clinical and molecular course and those that define distinct disease entities. We will discuss advances in genetics and MDS/MPN modeling, as well as translational discoveries that are anticipated to inform the diagnosis, prognostication, and treatment of MDS/MPNs in the near future.

  18. 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.

  19. 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.

  20. Finding overlapping communities using seed set

    NASA Astrophysics Data System (ADS)

    Yang, Jin-Xuan; Zhang, Xiao-Dong

    2017-02-01

    The local optimization algorithm using seed set to find overlapping communities has become more and more a significant method, but it is a great challenge how to choose a good seed set. In this paper, a new method is proposed to achieve the choice of candidate seed sets, and yields a new algorithm to find overlapping communities in complex networks. By testing in real world networks and synthetic networks, this method can successfully detect overlapping communities and outperform other state-of-the-art overlapping community detection methods.

  1. 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... supplemental notice in the above-referenced proceeding of Southern Turner Cimarron I, LLC's application...

  2. 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

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF ENERGY Federal Energy Regulatory Commission Turner Energy, LLC; Supplemental Notice That Initial Market-Based Rate... notice in the above-referenced proceeding of Turner Energy, LLC's application for market-based...

  3. A Review of the Evidence for Overlap between Urological and Non-urological Unexplained Clinical Conditions

    PubMed Central

    Rodríguez, María Ángeles Bullones; Afari, Niloofar; Buchwald, Dedra

    2010-01-01

    Purpose Unexplained clinical conditions share common features, such as pain, fatigue, disability out of proportion to physical examination findings, inconsistent laboratory abnormalities, and an association with stress and psychosocial factors. In this literature review, we examine the extent of the overlap among urological and non-urological unexplained clinical conditions characterized by pain, note the limitations of previous research, and suggest several possible explanatory models. Materials & Methods Using hallmark symptoms and syndromes as search terms, a search of 12 databases identified 1,037 full-length published articles in 8 languages from 1966 to April, 2008. The search focused on the overlap of chronic pelvic pain, interstitial cystitis, painful bladder syndrome, chronic prostatitis/chronic pelvic pain syndrome, or vulvodynia, with fibromyalgia, chronic fatigue syndrome, temporomandibular disorder, or irritable bowel syndrome. Information on authorship, type of case and control groups, eligibility criteria, case definitions, study methods, and major findings were abstracted. Results The literature suggests considerable comorbidity between urological and non-urological unexplained clinical conditions. The most robust evidence for overlap was for irritable bowel syndrome and urological unexplained syndromes, with some estimates of up to 79% comorbidity between chronic pelvic pain and symptoms of irritable bowel syndrome. However, most studies were limited by methodological problems, such as varying case definitions and selection of control subjects. Conclusions Overlap between urological and selected non-urological unexplained clinical conditions is substantial. Future research should focus on using standardized definitions and rigorously designed and well-controlled studies to further assess comorbidity, clarify the magnitude of the association, and examine common pathophysiological mechanisms. PMID:19758633

  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. 47 CFR 73.509 - Prohibited overlap.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... operation would involve overlap of signal strength contours with any other station licensed by the... separation Contour of proposed station Contour of other station Co-channel 0.1mV/m (40 dBu)1 mV/m (60 dBu) 1... if the proposed operation would involve overlap of signal strength contours with any other station...

  6. 47 CFR 73.509 - Prohibited overlap.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... operation would involve overlap of signal strength contours with any other station licensed by the... separation Contour of proposed station Contour of other station Co-channel 0.1mV/m (40 dBu)1 mV/m (60 dBu) 1... if the proposed operation would involve overlap of signal strength contours with any other station...

  7. 47 CFR 73.509 - Prohibited overlap.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... operation would involve overlap of signal strength contours with any other station licensed by the... separation Contour of proposed station Contour of other station Co-channel 0.1mV/m (40 dBu)1 mV/m (60 dBu) 1... if the proposed operation would involve overlap of signal strength contours with any other station...

  8. The A, B, C's of factitious disorder: a response to Turner.

    PubMed

    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.

  9. 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

  10. 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.

  11. A {open_quotes}balanced{close_quotes} Y:16 translocation with the Y breakpoint just proximal to the Yq heterochromatin boundary associated with Turner-like neonatal lymphedema suggests the location of a potential anti-Turner gene

    SciTech Connect

    Erickson, R.P.; Hudgins, L.; Stone, J.F.

    1994-09-01

    A male patient with Turner-like hydrops in the newborn period (Bonnevie-Ullrich syndrome) was studied. The extensive nucchal cystic hygroma and hydrops resolved over several weeks. The karyotype was 46,X,t(Y;16)(q11.2;q24). The paternal karyotype was normal. Chromosome painting with the heterochromatic long arm repeat DYZ2 disclosed that all the hybridization was on the derivative 16. This was confirmed by chromosome painting with DYZ1, the other major Y long arm heterochromatic repeat, and DYZ3, the Y alphoid, centromeric repeat, which showed chromosomal separation of the 2 stained regions. A {open_quotes}FISHing trip{close_quotes} was performed using the Y YAC contig created in Dr. David Page`s laboratory. This disclosed 2 YACs located just proximal to the Y heterochromatin which {open_quotes}jumped{close_quotes} the translocation. The recent discovery of a candidate gene for the azoospermia factor (AZF) in this region suggests the possibility that there are several Y-expressed genes adjacent to the heterochromatin boundary as there are near the pseudoautosomal boundary.

  12. [XX 'pure' gonadal dysgenesis and XYY syndrome].

    PubMed

    Itoh, Naoki; Tsukamoto, Taiji

    2004-02-01

    XX 'pure' gonadal dysgenesis is a disease related to Turner's syndrome. Patients of this disease are characterized by normal female external genitalia, bilateral streak gonads, amenorrhea and sexual infantilism. Recently, it has been reported that point mutations of the FSH receptor gene may be one of cause of this disease. The relationship between criminal behavior and XYY syndrome is still controversial. Increased incidence of disomic sperm in 47,XYY males has been reported by fluorescent in situ hybridization(FISH). Genetic counseling should be done when they undergo intracytoplasmic sperm injection.

  13. [Asthma and chronic obstructive pulmonary disease overlap].

    PubMed

    Müller, Veronika; Gálffy, Gabriella; Tamási, Lilla

    2011-01-16

    Asthma bronchiale and chronic obstructive pulmonary disease are the most prevalent lung diseases characterized by inflammation of the airways. International and Hungarian guidelines provide proper definitions for clinical symptoms, diagnostics and therapy of both diseases. However, in everyday clinical practice, overlap of asthma and chronic obstructive pulmonary disease has become more frequent. As guidelines are mainly based on large, multicenter, randomized, controlled trials that exclude overlap patients, there is a lack of diagnostic and especially therapeutic strategies for these patients. This review summarizes clinical characteristics of asthma and chronic obstructive pulmonary disease overlap, and provides daily practical examples for its management.

  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. 75 FR 38809 - Southern Turner Cimarron I, LLC; Notice of Filing

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-07-06

    ...: 2010-16281] DEPARTMENT OF ENERGY Federal Energy Regulatory Commission [Docket No. ER10-892-000..., Southern Turner Cimarron I, LLC filed a supplement confirming passive ownership structure for informational... or intervention to the Federal Energy Regulatory Commission, 888 First Street, NE., Washington,...

  16. 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

  17. 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.

  18. 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.

  19. Infrared lidar overlap function: an experimental determination.

    PubMed

    Guerrero-Rascado, Juan Luis; Costa, Maria João; Bortoli, Daniele; Silva, Ana Maria; Lyamani, Hassan; Alados-Arboledas, Lucas

    2010-09-13

    The most recent works demonstrate that the lidar overlap function, which describes the overlap between the laser beam and the receiver field of view, can be determined experimentally for the 355 and 532 nm channels using Raman signals. Nevertheless, the Raman channels cannot be used to determine the lidar overlap for the infrared channel (1064 nm) because of their low intensity. In addition, many Raman lidar systems only provide inelastic signals with reasonable signal-to-noise ratio at nighttime. In view of this fact, this work presents a modification of that method, based on the comparison of attenuated backscatter profiles derived from lidar and ceilometer, to retrieve the overlap function for the lidar infrared channel. Similarly to the Raman overlap method, the approach presented here allows to derive the overlap correction without an explicit knowledge of all system parameters. The application of the proposed methodology will improve the potential of Raman lidars to investigate the aerosol microphysical properties in the planetary boundary layer, extending the information of 1064 nm backscatter profiles to the ground and allowing the retrieval of microphysical properties practically close to the surface.

  20. Overlapping Antisense Transcription in the Human Genome

    PubMed Central

    Fahey, M. E.; Moore, T. F.

    2002-01-01

    Accumulating evidence indicates an important role for non-coding RNA molecules in eukaryotic cell regulation. A small number of coding and non-coding overlapping antisense transcripts (OATs) in eukaryotes have been reported, some of which regulate expression of the corresponding sense transcript. The prevalence of this phenomenon is unknown, but there may be an enrichment of such transcripts at imprinted gene loci. Taking a bioinformatics approach, we systematically searched a human mRNA database (RefSeq) for complementary regions that might facilitate pairing with other transcripts. We report 56 pairs of overlapping transcripts, in which each member of the pair is transcribed from the same locus. This allows us to make an estimate of 1000 for the minimum number of such transcript pairs in the entire human genome. This is a surprisingly large number of overlapping gene pairs and, clearly, some of the overlaps may not be functionally significant. Nonetheless, this may indicate an important general role for overlapping antisense control in gene regulation. EST databases were also investigated in order to address the prevalence of cases of imprinted genes with associated non-coding overlapping, antisense transcripts. However, EST databases were found to be completely inappropriate for this purpose. PMID:18628857