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Sample records for turner syndrome review

  1. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ramachandran Sudarshan

    2012-08-01

    Full Text Available Turner syndrome is a genetic disorder that affects mostly females. Affected females have characteristic features such as short stature, premature ovarian failure, and several other features. Oral manifestations of this condition are not much discussed in the literature. But reported literature includes teeth, palate, periodontal and salivary changes. So the aim of this review is to illustrate the general manifestations, and especially the oral manifestations of Turner syndrome and evaluate their possible management. [Archives Medical Review Journal 2012; 21(4.000: 246-252

  2. Turner Syndrome

    Science.gov (United States)

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete X ... work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

  3. [Turner syndrome and genetic polymorphism: a systematic review].

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    Trovó de Marqui, Alessandra Bernadete

    2015-01-01

    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. 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. 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 (SNPs) in the etiology of Turner syndrome, i.e., in chromosomal nondisjunction, was also confirmed. 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. Copyright © 2015 Sociedade de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.

  4. Turner Syndrome

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    ... girls and women with TS may have low self- esteem, anxiety, or depression. How is Turner syndrome diagnosed? ... to active partners in their health care. This fact sheet is also available in Spanish at www. ...

  5. Turner Syndrome

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    ... have an increased risk of an underactive thyroid (hypothyroidism) due to the autoimmune disorder Hashimoto's thyroiditis. They also have an increased risk of diabetes. Some women with Turner syndrome have gluten intolerance (celiac disease) or inflammatory bowel disease. Skeletal ...

  6. Turner Syndrome: Other FAQs

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    ... celiac disease. 5 Is Turner syndrome considered a disability? Turner syndrome is not considered a disability, although ... girls with Turner syndrome have difficulty with arithmetic, visual memory, and visio-spatial skills (such as determining ...

  7. Hearing loss among patients with Turner's syndrome: literature review

    Directory of Open Access Journals (Sweden)

    Cresio Alves

    2014-06-01

    Full Text Available INTRODUCTION: Turner's syndrome (TS is caused by a partial or total deletion of an X chromosome, occurring in 1:2,000 to 1:5,000 live born females. Hearing loss is one of its major clinical manifestations. However, there are few studies investigating this problem. OBJECTIVES: To review the current knowledge regarding the epidemiology, etiology, clinical manifestations and diagnosis of hearing impairment in patients with TS. METHODS: A bibliographic search was performed in the Medline and Lilacs databanks (1980-2012 to identify the main papers associating Turner's syndrome, hearing impairment and its clinical outcomes. CONCLUSIONS: Recurrent otitis media, dysfunction of the Eustachian tube, conductive hearing loss during infancy and sensorineural hearing loss in adolescence are the audiologic disorders more common in ST. The karyotype appears to be important in the hearing loss, with studies demonstrating an increased prevalence in patients with monosomy 45,X or isochromosome 46,i(Xq. Morphologic studies of the cochlea are necessary to help out in the clarifying the etiology of the sensorineural hearing loss.

  8. Turner Syndrome (For Parents)

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    ... and other problems, with the right medical care, early intervention, and ongoing support, a girl with Turner syndrome ... maturity before kindergarten. If learning problems are found, early preventive and intervention strategies can help. Looking Ahead Girls with Turner ...

  9. Turner syndrome and anesthesia.

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    Maranhão, Marcius Vinícius M

    2008-01-01

    Turner syndrome is a frequent and complex genetic abnormality affecting women, being associated with a wide variety of anatomical and physiological changes, especially related with the airways and cardiovascular system. The objective of this report was to review the anatomopathologic changes of this syndrome that concern the anesthesiologist the most, discuss the perioperative management and review the literature regarding the anesthetic conduct in those patients. Turner syndrome is a genetic disorder characterized by an abnormality in the number or morphology of the sex chromosome. The most frequent abnormality is the absence of a sex chromosome, resulting in the 45X karyotype and a phenotype composed of gonadal dysgenesis. The main anatomo-physiological changes pertaining the anesthesiologist include a short neck, and maxillary and mandibular hipoplasia, which might be responsible for difficult airways. The shorter length of the trachea, as well as the higher location of its bifurcation, can predispose to bronchial intubation and accidental endotracheal extubation when the tracheal cannula is under traction. The presence of cardiopathies, endocrine and gastrointestinal disorders, liver and kidney changes, as well as osteoarticular involvement, besides ophthalmologic and hearing impairments, are very frequent, and should be detected during the pre-anesthetic evaluation. General or regional anesthesia seems to be safe for those patients. Turner syndrome is a genetic abnormality with important anatomo-physiological abnormalities important to the anesthesiologist. The knowledge of this disorder allows for a safer anesthetic management with low perioperative morbimortality.

  10. Turner Syndrome (For Teens)

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    ... is ADHD . Some girls also have problems with body image or self-esteem. How Is Turner Syndrome Diagnosed? Girls with Turner ... Puberty How Can I Improve My Self-Esteem? Body Image and Self-Esteem Thyroid Disease View more Partner Message About Us ...

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

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    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.

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

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    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.

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

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    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 (heightTurner syndrome is reported. Although short stature and ovarian dysgenesis are common in TS, precocious puberty may occur in TS, which is liable to cause delayed diagnosis and misdiagnosis. Careful examination is recommended for patients with unusual growth pattern, even though girls have normal height in accord with standard growth curve or spontaneous puberty. Evaluation for TS and subsequent investigation should be prompted.

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

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    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. Copyright © 2016 North American Society for Pediatric and

  15. Multimodality cardiac imaging in Turner syndrome.

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    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.

  16. Turner syndrome with primary hyperparathyroidism

    Directory of Open Access Journals (Sweden)

    Jungmee Park

    2013-06-01

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

  17. Genetics Home Reference: Turner syndrome

    Science.gov (United States)

    ... Sep 7. Citation on PubMed Hong D, Scaletta Kent J, Kesler S. Cognitive profile of Turner syndrome. Dev ... Institutes of Health National Library of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, ...

  18. Parsonage-Turner syndrome.

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    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

    To describe the clinical, electrophysiological and imaging findings from Parsonage-Turner syndrome and evaluate the results from conservative treatment. 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. 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. In the majority of the cases, the functional recovery was good, although muscle strength was not completely restored in some of them.

  19. What Are the Symptoms of Turner Syndrome?

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    ... NICHD Research Information Find a Study More Information Pharmacology Condition Information NICHD Research Information Find a Study ... Turner syndrome can cause serious health problems. In general, women with Turner syndrome have female sex characteristics, ...

  20. Parsonage-Turner syndrome

    Directory of Open Access Journals (Sweden)

    Ricardo Barreto Monteiro dos Santos

    2015-06-01

    Full Text Available 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.

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

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    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. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  2. Turner Syndrome with Ulcerative Colitis

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    Hyodo, Hiromi; Tomita, Yuichiro; Hirai, Kohta; Hirakawa, Hitoshi; Ueno, Shigeru; Ishiguro, Hiroyuki

    2009-01-01

    Turner syndrome is a chromosomal disease frequently associated with autoimmune disorders including diabetes mellitus, thyroid disease and inflammatory bowel disease (IBD). Although the etiology of IBD has not been fully elucidated, genetic analysis has recently revealed several susceptibility genes. Recently, cases with Turner syndrome associated with IBD have been reported. We report here a 13-yr-old girl with Turner syndrome associated with ulcerative colitis. The patient was undergoing growth hormone treatment and presented with abdominal discomfort and bloody diarrhea. Her karyotype pattern was 46,X,i(Xq). Barium enema revealed punctate collections of barium suggesting microulcerations in the descending and sigmoid colon with loss of haustra. Flexible sigmoidoscopy showed that the mucosa was erythematous and friable upon touch and that the wall had frank hemorrhage and inflammatory polyp formation from the anal verge through the splenic flexure. Histologically, mucosal and submucosal inflammation was prominent, suggesting cryptitis and crypt abscess formation. Based on these findings, she was diagnosed as having ulcerative colitis, and 5-aminosalicylic acid, prednisolone and dietary therapy were initiated. Our observations in this patient suggest that X chromosome abnormality may influence the development of IBD and that screening for gastrointestinal disease in patients with Turner syndrome may help lengthen life expectancy in these patients. PMID:23926368

  3. Cognitive Profile of Turner Syndrome

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    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…

  4. Reproductive Issues in Women with Turner Syndrome.

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    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. Copyright © 2015 Elsevier Inc. All rights reserved.

  5. Mosaic Turner syndrome associated with schizophrenia.

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    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.

  6. Fertility preservation in Turner syndrome.

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    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. Copyright © 2016 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  7. Autoimmune diseases in women with Turner's syndrome

    DEFF Research Database (Denmark)

    Jørgensen, Kristian T; Rostgaard, Klaus; Bache, Iben

    2010-01-01

    OBJECTIVE: In terms of number of X chromosomes, women with Turner's syndrome cytogenetically resemble men. An increased risk of autoimmune diseases has been observed among women with Turner's syndrome. This study was undertaken to investigate whether the autoimmune disease profile in women with T...

  8. Turner Syndrome and Its Variants

    Directory of Open Access Journals (Sweden)

    Semra Gürsoy

    2017-12-01

    Full Text Available Turner syndrome (TS is a genetic disorder which is characterized by the complete or partial absence of the X chromosome. The incidence is 1/2500 female live births. The main clinical findings are short stature, primary amenorrhea and infertility, and phenotypical features include webbed neck, a low posterior hairline, cubitus valgus and shortening of the fourth metacarpal. While 1% of all still births have 45,X monosomy, this rate has been reported to be approximately 10% in spontaneous abortions. The karyotype is determined as 45,X in about half of the patients. Therefore, most of the TS fetuses are considered to end in spontaneous abortion and only mosaic cases survive to term. Isochromosome Xq is the most common structural rearrangement of the X chromosome. Furthermore, ring X chromosome, deletions and Y chromosome abnormalities can be detected in patients with TS.

  9. What Are Common Treatments for Turner Syndrome?

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    ... NICHD Research Information Find a Study More Information Preeclampsia and Eclampsia About NICHD Research Information Find a ... Facebook Twitter Pinterest Email Print What are common treatments for Turner syndrome? Although there is no cure ...

  10. Language and Literacy in Turner Syndrome

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    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…

  11. Coronary artery anomalies in Turner Syndrome.

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    Viuff, Mette H; Trolle, Christian; Wen, Jan; Jensen, Jesper M; Nørgaard, Bjarne L; Gutmark, Ephraim J; Gutmark-Little, Iris; Mortensen, Kristian H; Gravholt, Claus Højbjerg; Andersen, Niels H

    Congenital heart disease, primarily involving the left-sided structures, is often seen in patients with Turner Syndrome. Moreover, a few case reports have indicated that coronary anomalies may be more prevalent in Turner Syndrome than in the normal population. We therefore set out to systematically investigate coronary arterial anatomy by computed tomographic coronary angiography (coronary CTA) in Turner Syndrome patients. Fifty consecutive women with Turner Syndrome (mean age 47 years [17-71]) underwent coronary CTA. Patients were compared with 25 gender-matched controls. Coronary anomaly was more frequent in patients with Turner Syndrome than in healthy controls [20% vs. 4% (p = 0.043)]. Nine out of ten abnormal cases had an anomalous left coronary artery anatomy (absent left main trunk, n = 7; circumflex artery originating from the right aortic sinus, n = 2). One case had a tubular origin of the right coronary artery above the aortic sinus. There was no correlation between the presence of coronary arterial anomalies and karyotype, bicuspid aortic valve, or other congenital heart defects. Coronary anomalies are highly prevalent in Turner Syndrome. The left coronary artery is predominantly affected, with an absent left main coronary artery being the most common anomaly. No hemodynamically relevant coronary anomalies were found. Copyright © 2016 Society of Cardiovascular Computed Tomography. All rights reserved.

  12. Turner syndrome: From birth to adulthood.

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    Ríos Orbañanos, Isabel; Vela Desojo, Amaia; Martinez-Indart, Lorea; Grau Bolado, Gema; Rodriguez Estevez, Amaya; Rica Echevarria, Itxaso

    2015-12-01

    Turner syndrome is characterized by a great variability of clinical manifestations caused by a total or partial loss of X-chromosome. A retrospective, descriptive study of the diagnosis, course, and current status of patients with Turner syndrome followed up at our section over the past 40 years, based on review of medical records supplemented with a telephone survey. Forty-five female patients with a current mean age of 22.95years (range 2-38) and a mean age at diagnosis of 4.71 were included. Sixty-three percent of them showed a mosaic karyotype. Short stature was the most common reason for consultation (54%), with increased prenatal diagnosis in most recent cases. Seventy-two percent have been treated with growth hormone, together with oxandrolone in 26%. Final stature was short in 69% of patients. Gonadal failure was found in 66%; most of whom received replacement therapy. Three patients achieved pregnancy by oocyte donation. The 31 adult patients are mainly monitored by the endocrinology (37.5%) and/or gynecology (34.4%) departments. As regards psychosocial aspects, 22% required support during school, and 80% completed middle to high level education. Two patients died, one due to dissecting aortic aneurysm and the other one, who had multiple pathological conditions, from respiratory failure. Short stature is the main cause of diagnosis in patients with Turner syndrome; most cases show genetic mosaicism. The most common clinical manifestations include short stature and gonadal failure. Eighty percent of patients complete middle or high education. In adulthood, follow-up is irregular, sometimes scarce, and clearly improvable. Copyright © 2015 SEEN. Published by Elsevier España, S.L.U. All rights reserved.

  13. Management of Turner syndrome in adult life and beyond.

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    Castelo-Branco, Camil

    2014-12-01

    To describe in practical terms the clinical management in adult life of patients with Turner syndrome. Systematic review of the literature and practical issues. An evaluation of clinical trials, meta-analysis, case reports and reviews assessing the management of different conditions related to Turner syndrome was done using the following data sources: Medline, PubMed (from 1966 to July 2014) and the Cochrane Controlled Clinical Trials Register, Embase (up to July 2014). Extracted information is summarized here on karyotype, screening of malformations, malformations debuting in adult life, final height, treatments with growth hormone, cardiovascular risk, endocrino-metabolic and liver abnormalities, sensorineural disorders and osteoporosis and its treatment. This review provides recommendations for the management of adult patients with Turner syndrome and insight into the associated medical complaints. A link between karyotypes and clinical features suggests a novel hypothesis to explain the different phenotypes and clinical abnormalities of these patients. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  14. Mosaic Turner syndrome and hyperinsulinaemic hypoglycaemia

    DEFF Research Database (Denmark)

    Alkhayyat, H.; Christesen, Henrik Thybo; Steer, J.

    2006-01-01

    BACKGROUND: A common and well recognised feature of Turner's syndrome (partial or total monosomy X) is impaired glucose tolerance or type 2 diabetes mellitus. A small percentage of patients with Turner's syndrome have a complex mosaic karyotype with atypical clinical features and mental retardation....... METHODS/PATIENT: We report the first case of a child with a complex mosaic Turner genotype and hyperinsulinaemic hypoglycaemia responsive to diazoxide therapy. RESULTS: Cytogenetic analysis showed four cell lines: one with 45,X; the others with an additional small ring chromosome, a small marker...... chromosome, and both the ring and marker chromosomes, respectively. FISH studies showed the abnormal chromosomes to originate from an X. The X inactivation locus (XIST) was present in the ring, but not in the marker chromosome. CONCLUSIONS: The recognition of hypoglycaemia in children with atypical Turner...

  15. Growth Curves for Girls with Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Fabio Bertapelli

    2014-01-01

    Full Text Available The objective of this study was to review the growth curves for Turner syndrome, evaluate the methodological and statistical quality, and suggest potential growth curves for clinical practice guidelines. The search was carried out in the databases Medline and Embase. Of 1006 references identified, 15 were included. Studies constructed curves for weight, height, weight/height, body mass index, head circumference, height velocity, leg length, and sitting height. The sample ranged between 47 and 1,565 (total = 6,273 girls aged 0 to 24 y, born between 1950 and 2006. The number of measures ranged from 580 to 9,011 (total = 28,915. Most studies showed strengths such as sample size, exclusion of the use of growth hormone and androgen, and analysis of confounding variables. However, the growth curves were restricted to height, lack of information about selection bias, limited distributional properties, and smoothing aspects. In conclusion, we observe the need to construct an international growth reference for girls with Turner syndrome, in order to provide support for clinical practice guidelines.

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

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    Baker, Joseph M; Reiss, Allan L

    2016-02-01

    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. 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. 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. 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. © 2015 Mac Keith Press.

  17. How Do Health Care Providers Diagnose Turner Syndrome?

    Science.gov (United States)

    ... Email Print How do health care providers diagnose Turner syndrome? Health care providers use a combination of physical ... the X chromosomes is partially or completely missing. Turner syndrome also can be diagnosed during pregnancy by testing ...

  18. Mosaic Turner syndrome and hyperinsulinaemic hypoglycaemia

    DEFF Research Database (Denmark)

    Alkhayyat, H.; Christesen, Henrik Thybo; Steer, J.

    2006-01-01

    BACKGROUND: A common and well recognised feature of Turner's syndrome (partial or total monosomy X) is impaired glucose tolerance or type 2 diabetes mellitus. A small percentage of patients with Turner's syndrome have a complex mosaic karyotype with atypical clinical features and mental retardation......'s syndrome is important as persistent hypoglycaemia may lead to brain damage in addition to the risk of mental retardation. Further studies are required to understand whether the mosaic over--or underexpression of unidentified X chromosome gene(s) in the pancreatic beta-cells leads to hyperinsulinaemic...

  19. Thyroid Autoimmunity in Girls with Turner Syndrome.

    Science.gov (United States)

    Witkowska-Sędek, Ewelina; Borowiec, Ada; Kucharska, Anna; Chacewicz, Karolina; Rumińska, Małgorzata; Demkow, Urszula; Pyrżak, Beata

    2017-01-01

    Turner syndrome is associated with increased incidence of autoimmune diseases, especially those of the thyroid gland. The aim of this study was to assess the prevalence of thyroid autoimmunity among pediatric patients with Turner syndrome. The study was retrospective and included 41 girls with Turner syndrome aged 6-18 years. Free thyroxine (FT4), thyroid stimulating hormone (TSH), anti-thyroid peroxidase (TPO-Ab) antibodies, anti-thyroglobulin (TG-Ab) antibodies, and karyotype were investigated. The correlation between karyotype and incidence of thyroid autoimmunity was also examined. Eleven patients (26.8%) were positive for TPO-Ab and/or TG-Ab. Three girls from that subgroup were euthyroid, 5 had subclinical hypothyroidism, and 3 were diagnosed with overt hypothyroidism. Out of these 11 patients affected by thyroid autoimmunity, 6 girls had mosaic karyotype with X-isochromosome (n = 4) or with deletions (n = 2), and 5 had the 45,X karyotype. The study findings confirmed a high incidence of thyroid autoimmunity in girls with Turner syndrome, but we failed to observe an association between the incidence of thyroid autoimmunity and karyotype. We conclude that it is important to monitor thyroid function in patients with Turner syndrome because they are prone to develop hypothyroidism.

  20. Primary retroperitoneal teratoma and crossed fused renal ectopia with turner's syndrome -a case report-

    International Nuclear Information System (INIS)

    Kim, Yun Jung; Hong, Ki Ung

    1988-01-01

    In 1938, Turner described a clinical entity in phenotype females characterized by sexual infantilism, congenital webbed neck and cubitus valgus. After then, the occurrence of renal anomalies in patients with Turner's syndrome has been recognized. Associated crossed fused renal ectopia is very rare. Primary retroperitoneal teratoma is also rare and usually during childhood. The authors report a case of primary retroperitoneal teratoma and crossed fused renal ectopia with Turner's syndrome (mosaic type). The clinical, pathological and radiographical findings are reviewed

  1. Growth hormone deficiency in a Nigerian child with Turner's syndrome

    African Journals Online (AJOL)

    IRORO YARHERE

    Growth hormone deficiency in a Nigerian child with Turner's syndrome: a case report and review of growth assessment in .... when the sex hormonal influence is absent. The good thing about our ... was due to lack of oestradiol influence in amplifying the neuroendocrine regulation of pulsatile GH release, but our patient's ...

  2. Increased prevalence of autoimmunity in Turner syndrome

    DEFF Research Database (Denmark)

    Mortensen, K H; Cleemann, L; Hjerrild, B E

    2009-01-01

    Individuals with Turner syndrome (TS) are prone to develop autoimmune conditions such as coeliac disease (CD), thyroiditis and type 1 diabetes (T1DM). The objective of the present study was to examine TS of various karyotypes for autoantibodies and corresponding diseases. This was investigated...

  3. Increasing School Nurse Awareness of Turner Syndrome

    Science.gov (United States)

    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…

  4. Physical fitness of schoolgirls with Turner syndrome

    NARCIS (Netherlands)

    Milde, K.; Tomaszewski, P.K.; Stupnicki, R.

    2013-01-01

    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)

  5. Prevalence of pilomatricoma in Turner syndrome: findings from a multicenter study.

    Science.gov (United States)

    Handler, Marc Z; Derrick, Kristina M; Lutz, Richard E; Morrell, Dean S; Davenport, Marsha L; Armstrong, April W

    2013-05-01

    The absence of data on the prevalence of pilomatricoma among patients with Turner syndrome served as the catalyst for this multicenter investigation. To ascertain the prevalence of pilomatricoma among patients with Turner syndrome and to determine any association between the development of pilomatricomas and the use of exogenous hormones in patients with Turner syndrome. A retrospective medical record review from January 1, 2000, through January 1, 2010, was performed of all patients with Turner syndrome. Data on pilomatricomas and the use of hormone therapy were collected. University of California-Davis Medical Center, University of Nebraska Medical Center, and The University of North Carolina at Chapel Hill. Patients with a diagnosis of Turner syndrome. Prevalence of concomitant pilomatricoma and diagnosis of Turner syndrome. Secondary outcome measures included the use of the exogenous hormones estrogen or recombinant human growth hormone (rhGH). In total, 311 patients with Turner syndrome were identified from these 3 institutions. Among them, 8 patients (2.6%) were diagnosed as having pilomatricomas. Before the development of pilomatricomas, 5 patients had been treated with rhGH but not estrogen, 1 patient had received estrogen but not rhGH, and 2 patients did not receive either therapy. Although the prevalence of pilomatricoma among the general population is unknown, this study demonstrates a high prevalence (2.6%) of pilomatricomas among patients with Turner syndrome. No apparent relationship was noted among our patients or in the literature between the use of rhGH and the development of pilomatricomas.

  6. Pathology of the Cardiovascular System in Children with Turner Syndrome

    Directory of Open Access Journals (Sweden)

    A.Ye. Abaturov

    2015-03-01

    Full Text Available The paper studies the structure of the pathology of the cardiovascular system in children with Turner syndrome. The results of the survey are based on the findings from 42 patients with Turner syndrome, aged 1.5 to 17 years. It is shown that in 80.9 % of patients with Turner syndrome we have marked pathological changes in the cardiovascular system of varying severity. The most common congenital heart diseases in Turner syndrome are aortic coarctation, bicuspid aortic valve and atrial septal defect. Turner syndrome in 35.6 % of cases is associated with impaired electric work of the heart, in particular, with the long QT syndrome. Atherogenic changes in the lipid profile of patients with Turner syndrome in 21.4 % of cases occur since childhood.

  7. Partial anomalous pulmonary venous return in Turner syndrome

    NARCIS (Netherlands)

    Hoven, A.T. van den; Chelu, R.G.; Duijnhouwer, A.L.; Demulier, L.; Devos, D.; Nieman, K.; Witsenburg, M.; Bosch, A.E. van den; Loeys, B.L.; Hagen, I.M. van; Roos-Hesselink, J.W.

    2017-01-01

    PURPOSE: The aim of this study is to describe the prevalence, anatomy, associations and clinical impact of partial anomalous pulmonary venous return in patients with Turner syndrome. METHODS AND RESULTS: All Turner patients who presented at our Turner clinic, between January 2007 and October 2015

  8. Laparoscopic Removal of Streak Gonads in Turner Syndrome.

    Science.gov (United States)

    Mandelberger, Adrienne; Mathews, Shyama; Andikyan, Vaagn; Chuang, Linus

    To demonstrate the skills necessary for complete resection of bilateral streak gonads in Turner syndrome. Video case presentation with narration highlighting the key techniques used. The video was deemed exempt from formal review by our institutional review board. Turner syndrome is a form of gonadal dysgenesis that affects 1 in 2500 live births. Patients often have streak gonads and may present with primary amenorrhea or premature ovarian failure. Patients with a mosaic karyotype that includes a Y chromosome are at increased risk for gonadoblastoma and subsequent transformation into malignancy. Gonadectomy is recommended for these patients, typically at adolescence. Streak gonads can be difficult to identify, and tissue margins are often in close proximity to critical retroperitoneal structures. Resection can be technically challenging and requires a thorough understanding of retroperitoneal anatomy and precise dissection techniques to ensure complete removal. Laparoscopic approach to bilateral salpingo-oophorectomy of streak gonads. Retroperitoneal dissection and ureterolysis are performed, with the aid of the Ethicon Harmonic Ace, to ensure complete gonadectomy. Careful and complete resection of gonadal tissue in the hands of a skilled laparoscopic surgeon is key for effective cancer risk reduction surgery in Turner syndrome mosaics. Copyright © 2016 AAGL. Published by Elsevier Inc. All rights reserved.

  9. MULTIMODAL IMAGING OF ANGIOID STREAKS ASSOCIATED WITH TURNER SYNDROME.

    Science.gov (United States)

    Chiu, Bing Q; Tsui, Edmund; Hussnain, Syed Amal; Barbazetto, Irene A; Smith, R Theodore

    2018-02-13

    To report multimodal imaging in a novel case of angioid streaks in a patient with Turner syndrome with 10-year follow-up. Case report of a patient with Turner syndrome and angioid streaks followed at Bellevue Hospital Eye Clinic from 2007 to 2017. Fundus photography, fluorescein angiography, and optical coherence tomography angiography were obtained. Angioid streaks with choroidal neovascularization were noted in this patient with Turner syndrome without other systemic conditions previously correlated with angioid streaks. We report a case of angioid streaks with choroidal neovascularization in a patient with Turner syndrome. We demonstrate that angioid streaks, previously associated with pseudoxanthoma elasticum, Ehlers-Danlos syndrome, Paget disease of bone, and hemoglobinopathies, may also be associated with Turner syndrome, and may continue to develop choroidal neovascularization, suggesting the need for careful ophthalmic examination in these patients.

  10. Mechanisms of Lethal Cerebrovascular Accidents in Turner Syndrome.

    Science.gov (United States)

    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. © 2016 American Academy of Forensic Sciences.

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

    Science.gov (United States)

    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.…

  12. Turner Syndrome in Girls Presenting with Coarctation of the Aorta.

    Science.gov (United States)

    Eckhauser, Aaron; South, Sarah T; Meyers, Lindsay; Bleyl, Steven B; Botto, Lorenzo D

    2015-11-01

    To evaluate the frequency of Turner syndrome in a population-based, statewide cohort of girls with coarctation of the aorta. The Utah Birth Defects Network was used to ascertain a cohort of girls between 1997 and 2011 with coarctation of the aorta. Livebirths with isolated coarctation of the aorta or transverse arch hypoplasia were included and patients with complex congenital heart disease not usually seen in Turner syndrome were excluded. Of 244 girls with coarctation of the aorta, 77 patients were excluded, leaving a cohort of 167 girls; 86 patients (51%) had chromosomal studies and 21 (12.6%) were diagnosed with Turner syndrome. All patients were diagnosed within the first 4 months of life and 5 (24%) were diagnosed prenatally. Fifteen patients (71%) had Turner syndrome-related findings in addition to coarctation of the aorta. Girls with mosaicism were less likely to have Turner syndrome-associated findings (3/6 mosaic girls compared with 12/17 girls with non-mosaic 45,X). Twelve girls (57%) diagnosed with Turner syndrome also had a bicommissural aortic valve. At least 12.6% of girls born with coarctation of the aorta have karyotype-confirmed Turner syndrome. Such a high frequency, combined with the clinical benefits of an early diagnosis, supports genetic screening for Turner syndrome in girls presenting with coarctation of the aorta. Copyright © 2015 Elsevier Inc. All rights reserved.

  13. Effect of estrogen replacement therapy on bone and cardiovascular outcomes in women with turner syndrome: a systematic review and meta-analysis.

    Science.gov (United States)

    Cintron, Dahima; Rodriguez-Gutierrez, Rene; Serrano, Valentina; Latortue-Albino, Paula; Erwin, Patricia J; Murad, Mohammad Hassan

    2017-02-01

    Patients with Turner syndrome have adverse bone and cardiovascular outcomes from chronic estrogen deficiency. Hence, long-term estrogen replacement therapy is the cornerstone treatment. The estimates of its effect and optimal use, however, remain uncertain. We aimed to summarize the benefits and harms of estrogen replacement therapy on bone, cardiovascular, vasomotor and quality of life outcomes in patients with Turner syndrome. A comprehensive search of four databases was performed from inception through January 2016. Randomized clinical trials and observational cohort studies studying the effect of estrogen replacement therapy in patients with Turner syndrome under the age of 40 were included. Independently and in duplicate reviewers selected studies, extracted data and assessed risk of bias. Subgroup analyses were based on route of administration and type of estrogen formulation. Twenty-five studies at moderate to high risk of bias (12 randomized trials, 13 cohort studies) with 771 patients were included. Using random-effects models, estrogen replacement therapy showed an increase in bone mineral density [weighted mean change from baseline 0.09 g/cm2 (0.04-0.14)] that differed by type of estrogen but not route of administration. Oral estrogen replacement therapy showed a higher increase in high density lipoprotein cholesterol levels when compared to transdermal [weighted mean difference 9.33 mg/dl (4.82-13.85)] with no significant effect on other lipid fractions. The current evidence suggests possible benefit of estrogen replacement therapy on bone mineral density and high density lipoprotein cholesterol. Whether this improvement translates into changes in patient important outcomes (cardiovascular events or fractures) remains uncertain. Larger randomized clinical trials with direct comparisons on patient important outcomes are necessary.

  14. Turner syndrome: neuroimaging findings: structural and functional.

    LENUS (Irish Health Repository)

    Mullaney, Ronan

    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 the parietal lobe; cerebellum, amygdala, hippocampus; and basal ganglia; and perhaps differences in "connectivity" between frontal and parieto-occipital regions. Finally, there is preliminary evidence that genomic imprinting, sex hormones and growth hormone have significant modulatory effects on brain maturation in TS.

  15. [Human growth hormone and Turner syndrome].

    Science.gov (United States)

    Sánchez Marco, Silvia Beatriz; de Arriba Muñoz, Antonio; Ferrer Lozano, Marta; Labarta Aizpún, José Ignacio; Garagorri Otero, Jesús María

    2017-02-01

    The evaluation of clinical and analytical parameters as predictors of the final growth response in Turner syndrome patients treated with growth hormone. A retrospective study was performed on 25 girls with Turner syndrome (17 treated with growth hormone), followed-up until adult height. Auxological, analytical, genetic and pharmacological parameters were collected. A descriptive and analytical study was conducted to evaluate short (12 months) and long term response to treatment with growth hormone. A favourable treatment response was shown during the first year of treatment in terms of height velocity gain in 66.6% of cases (height-gain velocity >3cm/year). A favourable long-term treatment response was also observed in terms of adult height, which increased by 42.82±21.23cm (1.25±0.76 SDS), with an adult height gain of 9.59±5.39cm (1.68±1.51 SDS). Predictors of good response to growth hormone treatment are: A) initial growth hormone dose, B) time on growth hormone treatment until starting oestrogen therapy, C) increased IGF1 and IGFBP-3 levels in the first year of treatment, and D) height gain velocity in the first year of treatment. Copyright © 2015 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  16. Pregnancy and cardiovascular risk for women with Turner syndrome.

    Science.gov (United States)

    Bondy, Carolyn

    2014-07-01

    Most women with Turner syndrome (TS) are infertile due to primary ovarian failure. However, approximately 5% experience spontaneous pregnancy, and recently, more women with TS have used assisted reproductive technology with donated oocytes (ART-OD) to become pregnant. The first generation of Turner patients undergoing ART-OD demonstrated a high rate of fatal aortic dissection in late pregnancy or postpartum. More recent observations, particularly from Nordic countries, suggest a lesser risk of dissection, but confirm a high rate of pre-eclampsia in ART-OD pregnancies. This article reviews publications since 2000 concerning maternal outcomes for pregnancies in women with TS to determine if specific risk factors such as type of pregnancy, age, or presence of underlying congenital cardiovascular disease may identify women at special risk.

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

    Science.gov (United States)

    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.

  18. Chiari I malformation associated with turner syndrome

    Directory of Open Access Journals (Sweden)

    Kamble Jayaprakash Harsha

    2017-01-01

    Full Text Available Turner syndrome (TS is a rare genetic disease due to the absence of one X chromosome. Patients with TS have more subtle neurological/neuropsychiatric problems, while headache is an uncommon clinical presentation which needs attention. We report a 12-year-old child presenting with typical cough headache. Her magnetic resonance imaging revealed Chiari I malformation associated with TS. To the best of our knowledge, Chiari I malformation associated with TS is not described in literature. We report the first case of TS associated with Chiari I malformation. Interestingly, Chiari I malformation is also associated with Noonan's syndrome, which is a close morphological mimicker of TS, raising the possibility of sharing similar pathogenesis in both conditions.

  19. Vestibular dysfunction in Turner syndrome: a case report.

    Science.gov (United States)

    Baxter, Michael; Agrawal, Yuri

    2014-02-01

    Turner syndrome is a well-known cause of sensorineural hearing loss, and the lack of estrogen has been implicated in cochlear dysfunction. It has never been associated with vestibular dysfunction. We report a case of a patient with Turner syndrome who was found to have bilateral vestibular dysfunction based on video-oculography (VOG) testing. A single patient with a history of Turner syndrome who was found to have significant bilateral vestibular dysfunction. After noticing a deficit in the vestibulo-ocular reflexes on qualitative horizontal head impulse examination, the patient underwent VOG testing. VOG testing quantatively measures angular vestibulo-ocular reflex (AVOR) gain in the horizontal semicircular canal plane. AVOR gain represents the eye movement response to a head movement; in normal individuals the eye movement is fully compensatory and gain values are close to unity. VOG results showed AVOR gains of 0.29 and 0.36 on the right and left sides, respectively. We have presented a case of a woman with Turner syndrome with asymptomatic vestibular dysfunction demonstrated with VOG testing. Although there is a documented relationship between Turner syndrome and sensorineural hearing loss, there are no previous studies or case reports linking Turner syndrome and vestibular dysfunction. Additional research and added vigilance in monitoring Turner syndrome patients may be warranted.

  20. Síndrome de Turner e anestesia Síndrome de turner y anestesia Turner syndrome and anesthesia

    Directory of Open Access Journals (Sweden)

    Marcius Vinícius M. Maranhão

    2008-02-01

    review the anatomopathologic changes of this syndrome that concern the anesthesiologist the most, discuss the perioperative management and review the literature regarding the anesthetic conduct in those patients. CONTENTS: Turner syndrome is a genetic disorder characterized by an abnormality in the number or morphology of the sex chromosome. The most frequent abnormality is the absence of a sex chromosome, resulting in the 45X karyotype and a phenotype composed of gonadal dysgenesis. The main anatomo-physiological changes pertaining the anesthesiologist include a short neck, and maxillary and mandibular hipoplasia, which might be responsible for difficult airways. The shorter length of the trachea, as well as the higher location of its bifurcation, can predispose to bronchial intubation and accidental endotracheal extubation when the tracheal cannula is under traction. The presence of cardiopathies, endocrine and gastrointestinal disorders, liver and kidney changes, as well as osteoarticular involvement, besides ophthalmologic and hearing impairments, are very frequent, and should be detected during the pre-anesthetic evaluation. General or regional anesthesia seems to be safe for those patients. CONCLUSIONS: Turner syndrome is a genetic abnormality with important anatomo-physiological abnormalities important to the anesthesiologist. The knowledge of this disorder allows for a safer anesthetic management with low perioperative morbimortality.

  1. Fertility and Pregnancy in Turner Syndrome.

    Science.gov (United States)

    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. Copyright © 2016 The Society of Obstetricians and Gynaecologists of Canada/La Société des obstétriciens et gynécologues du Canada. Published by Elsevier Inc. All rights reserved.

  2. Low-level hyperinsulinism with hypoglycemic spells in an infant with mosaic Turner syndrome and mild Kabuki-like phenotype: a case report and review of the literature.

    Science.gov (United States)

    Pietzner, Vera; Weigel, Johannes F W; Wand, Dorothea; Merkenschlager, Andreas; Bernhard, Matthias K

    2014-01-01

    Impaired glucose tolerance and type 2 diabetes are well-known features in patients with Turner syndrome. To the best of our knowledge, there is only one reported case of hyperinsulinemic hypoglycemia associated with a complex mosaic Turner syndrome available in the current literature. We report on the case of a 13-month-old girl with a complex mosaic Turner genotype and mild hyperinsulinemic hypoglycemia responsive to diazoxide therapy. Cytogenetic analyses showed two or possibly three cell lines. Sixty percent of the cell lines had a 45,X genotype and the rest had 46,XX with a marker ring chromosome. Diagnosis of a mosaic Turner syndrome and mild Kabuki-like phenotype was confirmed. Despite the rareness of this case, clinicians should be aware of the possibility of hyperinsulinemic hypoglycemia in patients with Turner syndrome to prevent further brain damage caused by hypoglycemic episodes and seizures. Although the mechanism leading to hyperinsulinism in this condition is still unknown, the present report discusses this rare presentation and gives an overview on the current literature regarding this case.

  3. Turner Syndrome: Care of the Patient: Birth to Late Adolescence.

    Science.gov (United States)

    Paolucci, Denise Gruccio; Bamba, Vaneeta

    2017-06-01

    Turner syndrome (TS) is a genetic condition occurring in females resulting from the loss of part or all of one of the X chromosomes. The two hallmark features of Turner syndrome include short stature and primary ovarian insufficiency. In addition, Turner syndrome can involve multiple healthcare issues including cardiac and renal anomalies, autoimmune disorders, hearing loss, ophthalmologic issues, bone anomalies, dermatologic issues and psychosocial and educational concerns. The presenting signs of Turner syndrome can vary markedly, leading to delayed or even missed diagnosis. Early identification of TS allows for appropriate screening and surveillance evaluations and more timely treatment intervention. This article will provide an overview of the healthcare issues common to patients with TS, treatments available and the screening and surveillance testing that is recommended. Copyright© of YS Medical Media ltd.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

  6. [Turner syndrome: Study of 42 cases].

    Science.gov (United States)

    Bahíllo-Curieses, M Pilar; Prieto-Matos, Pablo; Quiroga González, Rocío; Regueras Santos, Laura; Blanco Barrio, Amaya; Rupérez Peña, Sara

    2016-10-21

    Turner syndrome (TS) is characterized by short stature, gonadal dysgenesis, and total or partial loss of X chromosome. A historical cohorts study of patients with TS≤18 years old followed up in public hospitals in Castilla y Leon was undertaken. Forty-two female patients were included (prenatal diagnosis 11.9%, neonatal diagnosis 14.3%) with current median age 11.9±4.2 years. Short stature was the reason for consultation in 87.1%. Total monosomy of X chromosome was present in 40.5%. The most frequently associated comorbidity was opthalmological (50%), with heart defects in 23.8%. Ninety-three percent were treated with growth hormone (GH), mean age at the beginning of treatment was 7.43±3.4 years and mean height standard deviation was -2.84±1.08. Final height was reached in 10 patients only (mean final height 151.47±6.09cm). Chronological age of puberty induction was 13.2±0.94 years (bone age 12.47±1.17 years). Short stature was an important clinical sign for the diagnosis of TS, accompanied in some cases by other findings, with good response to GH treatment. Copyright © 2016 Elsevier España, S.L.U. All rights reserved.

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

    Science.gov (United States)

    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.

  8. Craniofacial morphology in Turner syndrome patients treated with growth hormone

    Directory of Open Access Journals (Sweden)

    Jovana Julsoki

    2015-05-01

    Full Text Available ABSTRACT Introduction: In addition to well-established physical characteristics, Turner syndrome patients have distinct craniofacial morphology. Since short stature is the most typical characteristic, Turner syndrome patients are commonly treated with growth hormone in order to increase final height. At the same time, growth hormone treatment was found to influence craniofacial growth and morphology in various groups of treated patients. Whereas craniofacial characteristics of Turner syndrome patients are well documented, comparatively little is known of craniofacial morphology of those who are treated with growth hormone. Aim: The aim of this study was to investigate craniofacial morphology in Turner syndrome patients treated with growth hormone in comparison to healthy females. Materials and methods: The cephalometric evaluation was conducted on twenty lateral cephalograms of Turner syndrome patients (13.53 ± 4.04 years treated with growth hormone for at least one year (4.94 ± 1.92 years in average. As a control group, forty lateral cephalograms of healthy female controls, who matched Turner syndrome patients by chronological (11.80 ± 2.37 years and skeletal age, were used. Eleven angular, seven linear measurements and six dimensional ratios were measured to describe craniofacial morphology. Results: The results obtained for angular measurements, in cephalometric analyses for Turner syndrome patients treated with growth hormone, revealed bimaxillary retrognathism. The linear measurements indicated longer mandibular ramus, anterior cranial base and both anterior and posterior facial heights. However, posterior cranial base and maxilla were in proportion to the anterior cranial base, when comparing dimensional ratios. Anterior cranial base, maxilla and mandibular ramus were larger in proportion to mandibular body; as well as posterior facial height was when compared to anterior facial height. Turner syndrome patients treated with growth

  9. Short Bi-Iliac Distance in Prenatal Ullrich-Turner Syndrome

    DEFF Research Database (Denmark)

    Hartling, Ulla B.; Hansen, Birgit Fischer; Keeling, Jean W.

    2002-01-01

    prenatal; Ullrich-Turner syndrome; pelvis; iliac bone; vertebral column; X chromosome; anthropometry; radiography......prenatal; Ullrich-Turner syndrome; pelvis; iliac bone; vertebral column; X chromosome; anthropometry; radiography...

  10. Obstetric and neonatal outcome after oocyte donation in 106 women with Turner syndrome

    DEFF Research Database (Denmark)

    Hagman, Anna; Loft, Anne; Wennerholm, Ulla-Britt

    2013-01-01

    What are the obstetric and neonatal outcomes of deliveries after oocyte donation (OD) in women with Turner syndrome (TS)?......What are the obstetric and neonatal outcomes of deliveries after oocyte donation (OD) in women with Turner syndrome (TS)?...

  11. The Turner syndrome: cognitive deficits, affective discrimination, and behavior problems.

    Science.gov (United States)

    McCauley, E; Kay, T; Ito, J; Treder, R

    1987-04-01

    Individuals with sex chromosomal anomalies are known to be at increased risk for learning problems and in some cases social or behavioral problems. Girls with an absent or structurally abnormal second sex chromosome (the Turner syndrome) have been found to have cognitive problem solving deficits and immature, inadequate social relationships. The present study attempted to link cognitive and social problems by assessing the girls' ability to process affective cues. 17 girls with karyotypes consistent with a diagnosis of Turner syndrome were compared to a group of 16 short-stature girls of comparable age, verbal intelligence scores, height, and family socioeconomic status on the Affective Discrimination Task, which required interpretation of affective intention from facial expression. The results revealed that the Turner syndrome girls were less accurate at inferring facial affect than the short-stature controls. Analyses revealed that the Turner syndrome girls performed more poorly on spatial, attentional, and short-term memory cognitive tasks and had more psychosocial problems than the short-stature controls. Ability to discriminate facial affect may be another area of cognitive weakness for girls with the Turner syndrome and may underlie the psychosocial problems found in this sample.

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

    Science.gov (United States)

    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.

  13. Collectrin gene screening in Turner syndrome patients with kidney ...

    Indian Academy of Sciences (India)

    common to all TS, generally results in the full syndrome phe- ... Keywords. Turner syndrome; collectrin; horseshoe kidney; human genetics. Journal of ..... J. M. and Alessandrini P. 2006 Multicystic dysplastic kidney with ipsilateral abnormalities of genitourinary tract, experience in children. Urology 67, 603–607. O'Brien J.

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

    Science.gov (United States)

    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…

  15. Ear health and hearing surveillance in girls and women with Turner's syndrome: recommendations from the Turner's Syndrome Support Society.

    Science.gov (United States)

    Kubba, H; Smyth, A; Wong, S C; Mason, A

    2017-06-01

    Turner's syndrome (TS) is a common chromosomal disorder, affecting one in 2000 newborn girls, in which part or all of one X chromosome is missing. Ear and hearing problems are very common in girls and women with TS. The aim of this review was to review the published literature to suggest recommendations for otological health surveillance. A keyword search of Ovid Medline was performed for published literature on the subject and evidence rated according to the GRADE criteria. Middle ear disorders are very common and persistent in girls and women with TS as are progressive sensorineural hearing loss and balance disorders. Otolaryngologists should be aware of the high prevalence and challenging nature of all forms of ear disease in individuals with TS. Early intervention may offer benefits to health and education, and we advocate routine lifelong annual hearing screening in this group. © 2016 John Wiley & Sons Ltd.

  16. Recurrent Vocal Fold Paralysis and Parsonage-Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Marcus Vinicius Pinto

    2013-01-01

    Full Text Available 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.

  17. Current best practice in the management of Turner syndrome

    Science.gov (United States)

    Shankar, Roopa Kanakatti; Backeljauw, Philippe F.

    2017-01-01

    Turner syndrome (TS) is characterized by partial or complete loss of the second X-chromosome in phenotypic females resulting in a constellation of clinical findings that may include lymphedema, cardiac anomalies, short stature, primary ovarian failure and neurocognitive difficulties. Optimizing health care delivery is important to enable these individuals achieve their full potential. We review the current best practice management recommendations for individuals with TS focusing on the latest consensus opinion in regard to genetic diagnosis, treatment of short stature, estrogen supplementation, addressing psychosocial issues, as well screening for other comorbidities. A multidisciplinary approach and a well-planned transition to adult follow-up care will improve health care delivery significantly for this population. PMID:29344338

  18. Partial anomalous pulmonary venous return in Turner syndrome.

    Science.gov (United States)

    van den Hoven, Allard T; Chelu, Raluca G; Duijnhouwer, Anthonie L; Demulier, Laurent; Devos, Daniel; Nieman, Koen; Witsenburg, Maarten; van den Bosch, Annemien E; Loeys, Bart L; van Hagen, Iris M; Roos-Hesselink, Jolien W

    2017-10-01

    The aim of this study is to describe the prevalence, anatomy, associations and clinical impact of partial anomalous pulmonary venous return in patients with Turner syndrome. All Turner patients who presented at our Turner clinic, between January 2007 and October 2015 were included in this study and underwent ECG, echocardiography and advanced imaging such as cardiac magnetic resonance or computed tomography as part of their regular clinical workup. All imaging was re-evaluated and detailed anatomy was described. Partial anomalous pulmonary venous return was diagnosed in 24 (25%) out of 96 Turner patients included and 14 (58%) of these 24 partial anomalous pulmonary venous return had not been reported previously. Right atrial or ventricular dilatation was present in 11 (46%) of 24 partial anomalous pulmonary venous return patients. When studied with advanced imaging modalities and looked for with specific attention, PAPVR is found in 1 out of 4 Turner patients. Half of these patients had right atrial and/or ventricular dilatation. Evaluation of pulmonary venous return should be included in the standard protocol in all Turner patients. Copyright © 2017. Published by Elsevier B.V.

  19. A Rare Case of Acute Coronary Syndrome in a Patient With Turner Syndrome.

    Science.gov (United States)

    Kemaloglu, Tugba; Ozer, Nihat; Fikri Yapici, Mehmet

    2016-05-01

    In Turner syndrome, cardiovascular complications are the most important causes of early mortality. Congenital cardiovascular abnormalities are found in approximately one third of Turner syndrome patients. Developments in diagnosis and treatment have decreased the rate of mortality related to these abnormalities. In recent years, many papers have mentioned that coronary artery disease developing at early ages in patients with Turner syndrome causes sudden deaths. The patient, a 27-year-old female was admitted to the emergency room with chest pain at rest. She was diagnosed with Turner Syndrome in her teenage years due to amenorrhea. Patients with ECG changes and cardiac enzyme elevations were treated with acute coronary syndrome. The young woman with Turner Syndrome have several risk factors for early Coronary Artery Disease development. In such cases, dramatic results like sudden death or heart attack at an early age may occur in cases of insufficient follow-up and treatment.

  20. A RARE VARIANT OF TURNER SYNDROME- CASE REPORT

    Directory of Open Access Journals (Sweden)

    Ipsita Mishra

    2017-10-01

    Full Text Available Turner syndrome occurs in one out of every 2500-3000 live female births and the diagnosis is usually based on the clinical presentation. It is a genetic condition in which a female does not have the usual pair of two X chromosomes. Deletions of proportions of the X chromosome result in various Turner variants who have varied spectrum of clinical presentation. We report on a rare variant of deletion on long arm of X chromosome in a 35-year-old female with short stature, lack of secondary sexual characters, primary amenorrhea, average intelligence and diabetes mellitus. Chromosomal analysis using GTG-banding showed 46, X, del (X, (q13 in all cell lines. Hence, suspicion of rare variants of Turner syndrome in females must be done who present at a later age with atypical features.

  1. Sex hormone replacement in Turner syndrome

    DEFF Research Database (Denmark)

    Trolle, Christian; Hjerrild, Britta; Cleemann, Line Hartvig

    2012-01-01

    syndrome. Recent research emphasizes the need for proper sex hormone replacement therapy (HRT) during the entire lifespan of females with TS and new hypotheses concerning estrogen receptors, genetics and the timing of HRT offers valuable new information. In this review, we will discuss the effects...

  2. Evidence of a normal mean telomere fragment length in patients with Ullrich-Turner syndrome

    DEFF Research Database (Denmark)

    Kveiborg, Marie; Gravholt, Claus Højbjerg; Kassem, M

    2001-01-01

    Clinical and epidemiological studies suggest that premature ageing and increased morbidity and mortality is present in Ullrich-Turner syndrome. We studied telomere restriction fragment length (TRFL) in 30 women with Ullrich-Turner syndrome and 30 age-matched control women. All Turner women had th...

  3. A mother with variant Turner syndrome and two daughters with ...

    Indian Academy of Sciences (India)

    premature menopause but did not have learning disability or dysmorphism. Whole chromosome painting revealed that the abnormal chromosome X in both sisters was duplicated chromosome X, which was inherited from their mother. Turner syndrome is characterized by absence of all or part of one X chromosome from all ...

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

    Science.gov (United States)

    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…

  5. A mother with variant Turner syndrome and two daughters with ...

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics; Volume 92; Issue 2. A mother with variant Turner syndrome and two daughters with trisomy X: a case report. S. Ramachandram W. T. Keng R. Ariffin V. Ganesan. Research Note Volume 92 Issue 2 August 2013 pp 313-316 ...

  6. Osteoprotegerin in Turner syndrome - relationship to aortic diameter

    DEFF Research Database (Denmark)

    Trolle, Christian; Mortensen, Kristian Havmand; Bjerre, Mette

    2015-01-01

    BACKGROUND: Cardiovascular disease is a cardinal trait of Turner syndrome (TS), causing half of the 3-fold excess mortality. Since osteoprotegerin (OPG) is as a potential biomarker of cardiovascular disease, this cross-sectional and prospective study aimed at elucidating OPG levels in TS and its...

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

    DEFF Research Database (Denmark)

    Trolle, Christian; Mortensen, Kristian Havmand; Hjerrild, Britta Eilersen

    2012-01-01

    Turner syndrome (TS) is characterized by numerous medical challenges during adolescence and adulthood. Puberty has to be induced in most cases, and female sex hormone replacement therapy (HRT) should continue during adult years. These issues are normally dealt with by the paediatrician, but once...

  8. Adverse outcome of coarctation stenting in patients with Turner syndrome

    NARCIS (Netherlands)

    Hoven, A.T. van den; Duijnhouwer, A.L.; Eicken, A.; Aboulhosn, J.; Bruin, C. de; Backeljauw, P.F.; Demulier, L.; Chessa, M.; Uebing, A.; Veldtman, G.R.; Armstrong, A.K.; Bosch, A.E. van den; Witsenburg, M.; Roos-Hesselink, J.W.

    2017-01-01

    OBJECTIVES: This study examines the outcome and procedural outcomes of percutaneous stent angioplasty for aortic coarctation in patients with Turner syndrome (TS). BACKGROUND: TS occurs in 1 in 2,500 live-born females and is associated with aortic coarctation. METHODS: In this multicenter,

  9. The Psychoeducational Characteristics of Children with Turner Syndrome.

    Science.gov (United States)

    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.…

  10. Dosage of estradiol, bone and body composition in Turner syndrome

    DEFF Research Database (Denmark)

    Cleemann, Line; Holm, Kirsten; Kobbernagel, Hanne

    2017-01-01

    OBJECTIVE: Reduced bone mineral density (BMD) is seen in Turner syndrome (TS) with an increased risk of fractures, and body composition is characterized by increased body fat and decreased lean body mass. To evaluate the effect of two different doses of oral 17ß-estradiol in young TS women on bone...

  11. Partial abnormal pulmonary venous return in Turner syndrome

    NARCIS (Netherlands)

    van Wassenaer, A. G.; Lubbers, L. J.; Losekoot, G.

    1988-01-01

    Three cases of partial anomalous pulmonary venous return, in one case combined with coarctation of the aorta and in another with discrete subaortic stenosis, are described in patients with Turner syndrome. In two of them the right and left superior pulmonary veins drained into the right superior

  12. A case report of acute myelogenous leukemia with Turner Syndrome.

    Science.gov (United States)

    Siddiqui, Nadir; Ali Baig, Mirza Faris; Khan, Bilal Ahmed

    2017-09-01

    Turner Syndrome was diagnosed in a 45 years old female, known case of Acute Myeloid Leukaemia (AML) with maturation, on Bone Marrow biopsy. She presented with blurred vision, vertigo, exertional dyspnoea and insomnia. She did not show the typical features of Turner syndrome, but her cytogenetis confirmed the diagnosis. Bone marrow biopsy showed diffuse infiltration of blast cells with cellularity around 80-85% and haematopoietic suppression. Karyotype analysis showed: 45 X, -X, t (8; 21) (q22; q22) [According to The International System for Human Cytogenetic Nomenclature (ISCN)]. Turner syndrome is caused by partial or complete absence of second X chromosome in a female. It is known to have Cardiovascular and Reproductive complications but it is rare to find haematologic malignancies. There are few similar reported cases of AML associated with Turner syndrome, therefore this is a unique case presented to Jinnah Postgraduate Medical Center, Karachi, Pakistan and further research should be done to identify more similar cases to explore the prognostic significance of this association.

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

    Science.gov (United States)

    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.…

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

    Science.gov (United States)

    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…

  15. Growth hormone positive effects on craniofacial complex in Turner syndrome.

    Science.gov (United States)

    Juloski, Jovana; Dumančić, Jelena; Šćepan, Ivana; Lauc, Tomislav; Milašin, Jelena; Kaić, Zvonimir; Dumić, Miroslav; Babić, Marko

    2016-11-01

    Turner syndrome occurs in phenotypic females with complete or partial absence of X chromosome. The leading symptom is short stature, while numerous but mild stigmata manifest in the craniofacial region. These patients are commonly treated with growth hormone to improve their final height. The aim of this study was to assess the influence of long-term growth hormone therapy on craniofacial morphology in Turner syndrome patients. In this cross-sectional study cephalometric analysis was performed on 13 lateral cephalograms of patients with 45,X karyotype and the average age of 17.3 years, who have received growth hormone for at least two years. The control group consisted of 13 Turner syndrome patients naive to growth hormone treatment, matched to study group by age and karyotype. Sixteen linear and angular measurements were obtained from standard lateral cephalograms. Standard deviation scores were calculated in order to evaluate influence of growth hormone therapy on craniofacial components. In Turner syndrome patients treated with growth hormone most of linear measurements were significantly larger compared to untreated patients. Growth hormone therapy mainly influenced posterior face height, mandibular ramus height, total mandibular length, anterior face height and maxillary length. While the increase in linear measurements was evident, angular measurements and facial height ratio did not show statistically significant difference. Acromegalic features were not found. Long-term growth hormone therapy has positive influence on craniofacial development in Turner syndrome patients, with the greatest impact on posterior facial height and mandibular ramus. However, it could not compensate X chromosome deficiency and normalize craniofacial features. Copyright © 2016 Elsevier Ltd. All rights reserved.

  16. Response to three years of growth hormone therapy in girls with Turner syndrome

    Directory of Open Access Journals (Sweden)

    Hong Kyu Park

    2013-03-01

    Full Text Available PurposeShort stature is the most common finding in patients with Turner syndrome. Improving the final adult height in these patients is a challenge both for the patients and physicians. We investigated the clinical response of patients to growth hormone treatment for height improvement over the period of three years.MethodsReview of medical records from 27 patients with Turner syndrome treated with recombinant human growth hormone for more than 3 years was done. Differences in the changes of height standard deviation scores according to karyotype were measured and factors influencing the height changes were analyzed.ResultsThe response to recombinant human growth hormone was an increase in the height of the subjects to a mean value of 1.1 standard deviation for subjects with Turner syndrome at the end of the 3-year treatment. The height increment in the first year was highest. The height standard deviation score in the third year was negatively correlated with the age at the beginning of the recombinant human growth hormone treatment. Different karyotypes in subjects did not seem to affect the height changes.ConclusionEarly growth hormone administration in subjects with Turner syndrome is helpful to improve height response to the treatment.

  17. [Prevalence of Y-chromosome sequences and gonadoblastoma in Turner syndrome].

    Science.gov (United States)

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

    2016-01-01

    To assess the prevalence of Y-chromosome sequences and gonadoblastoma in patients with Turner syndrome using molecular techniques. A literature search was performed in Pubmed, limiting the period of time to the years 2005 to 2014 and using the descriptors: Turner syndrome and Y sequences (n=26), and Turner syndrome 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. the main results regarding the prevalence of Y-chromosome sequences in Turner syndrome 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 PCR, 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 to 25%; in two of them it was zero. 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. Copyright © 2015 Sociedade de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    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.

  20. Development of disease-specific growth charts in Turner syndrome and Noonan syndrome

    Directory of Open Access Journals (Sweden)

    Tsuyoshi Isojima

    2017-12-01

    Full Text Available Many congenital diseases are associated with growth failure, and patients with these diseases have specific growth patterns. As the growth patterns of affected individuals differ from those of normal populations, it is challenging to detect additional conditions that can influence growth using standard growth charts. Disease-specific growth charts are thus very useful tools and can be helpful for understanding the growth pattern and pathogenesis of congenital diseases. In addition, disease-specific growth charts allow doctors to detect deviations from the usual growth patterns for early diagnosis of an additional condition and can be used to evaluate the effects of growth-promoting treatment for patients. When developing these charts, factors that can affect the reliability of the charts should be considered. These factors include the definition of the disease with growth failure, selection bias in the measurements used to develop the charts, secular trends of the subjects, the numbers of subjects of varying ages and ethnicities, and the statistical method used to develop the charts. In this review, we summarize the development of disease-specific growth charts for Japanese individuals with Turner syndrome and Noonan syndrome and evaluate the efforts to collect unbiased measurements of subjects with these diseases. These charts were the only available disease-specific growth charts of Turner syndrome and Noonan syndrome for Asian populations and were developed using a Japanese population. Therefore, when these charts are adopted for Asian populations other than Japanese, different growth patterns should be considered.

  1. Development of disease-specific growth charts in Turner syndrome and Noonan syndrome.

    Science.gov (United States)

    Isojima, Tsuyoshi; Yokoya, Susumu

    2017-12-01

    Many congenital diseases are associated with growth failure, and patients with these diseases have specific growth patterns. As the growth patterns of affected individuals differ from those of normal populations, it is challenging to detect additional conditions that can influence growth using standard growth charts. Disease-specific growth charts are thus very useful tools and can be helpful for understanding the growth pattern and pathogenesis of congenital diseases. In addition, disease-specific growth charts allow doctors to detect deviations from the usual growth patterns for early diagnosis of an additional condition and can be used to evaluate the effects of growth-promoting treatment for patients. When developing these charts, factors that can affect the reliability of the charts should be considered. These factors include the definition of the disease with growth failure, selection bias in the measurements used to develop the charts, secular trends of the subjects, the numbers of subjects of varying ages and ethnicities, and the statistical method used to develop the charts. In this review, we summarize the development of disease-specific growth charts for Japanese individuals with Turner syndrome and Noonan syndrome and evaluate the efforts to collect unbiased measurements of subjects with these diseases. These charts were the only available disease-specific growth charts of Turner syndrome and Noonan syndrome for Asian populations and were developed using a Japanese population. Therefore, when these charts are adopted for Asian populations other than Japanese, different growth patterns should be considered.

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

    Science.gov (United States)

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

    2014-01-01

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

  3. Features of Turner syndrome among a group of Cameroonian patients.

    Science.gov (United States)

    Wonkam, Ambroise; Veigne, Sandra W; Abass, Ali; Ngo Um, Suzanne; Noubiap, Jean Jacques N; Mbanya, Jean-Claude; Sobngwi, Eugene

    2015-06-01

    To describe the features of Turner syndrome among a group of Cameroonian patients. A descriptive cross-sectional study was conducted among patients with amenorrhea and/or short stature who attended the genetic unit of Yaoundé Gynecology, Obstetrics and Pediatric Hospital (Yaoundé, Cameroon) for a specialist consultation between July 1, 2007, and December 31, 2008. Sociodemographic, clinical, and cytogenetic data were collected. Turner syndrome was confirmed among 11 of the 14 participants (seven had monosomy of the X chromosome; four had mosaicism involving a structural abnormality of the second X chromosome). The mean age at diagnosis was 18.4±2.8years. The reasons for consultation were delayed puberty (n=10) and short stature (n=1). Nine patients had a short neck, nine had a forearm carrying-angle deformity, eight had a low hairline, and two had a webbed neck. Abdominal ultrasonography identified a horseshoe kidney in two patients and a rudimentary uterus in nine patients. None of the patients displayed cardiac abnormalities. Hypergonadotropic hypogonadism was reported among five patients. Eight patients did not receive hormonal treatment owing to advanced bone age or economic reasons. Late diagnosis and variable phenotypic expression were key features of Cameroonian patients with Turner syndrome. Copyright © 2015 International Federation of Gynecology and Obstetrics. Published by Elsevier Ireland Ltd. All rights reserved.

  4. Pseudohypoparathyroidism with Hashimoto's thyroiditis and Turner syndrome: a case report.

    Science.gov (United States)

    Zeng, Wen-Heng; Xu, Jiao-Jun; Jia, Min-Yue; Ren, Yue-Zhong

    2014-10-01

    To report the case of an individual with PHP, Turner syndrome and Hashimoto's thyroiditis. A 16-year-old girl was referred to our hospital with chief complaint of short stature. She presented with round chubby facies, short neck, obesity and short stature. Radiography indicated short metatarsals and metacarpals, which mainly affected the second, third and fourth digits. Biochemistry revealed hyperphosphatemia, increased serum concentrations of parathyroid hormone and thyroid stimulating hormone, elevated levels of follicular-stimulating hormone and prolactin, and increased thyroid peroxidase antibody and thyroglobulin antibody. Radiographic examination revealed delayed bone age and pelvic ultrasonography demonstrated an immature uterus. Karyotype analysis showed 46,X,i(Xq10), while molecular analysis revealed a same sense mutation in exon 5 of GNAS (ATC → ATT, Ile).The specific diagnosis was made of Turner syndrome in the presence of Hashimoto's thyroiditis and PHP. She was treated with calcium supplementation, calcitriol and thyroxine. This is the first case report to describe a combination of Turner syndrome with these other clinical entities, and their co-existence should be considered and further investigated.

  5. Identification of Y-Chromosome Sequences in Turner Syndrome.

    Science.gov (United States)

    Silva-Grecco, Roseane Lopes da; Trovó-Marqui, Alessandra Bernadete; Sousa, Tiago Alves de; Croce, Lilian Da; Balarin, Marly Aparecida Spadotto

    2016-05-01

    To investigate the presence of Y-chromosome sequences and determine their frequency in patients with Turner syndrome. The study included 23 patients with Turner syndrome from Brazil, who gave written informed consent for participating in the study. Cytogenetic analyses were performed in peripheral blood lymphocytes, with 100 metaphases per patient. Genomic DNA was also extracted from peripheral blood lymphocytes, and gene sequences DYZ1, DYZ3, ZFY and SRY were amplified by Polymerase Chain Reaction. The cytogenetic analysis showed a 45,X karyotype in 9 patients (39.2 %) and a mosaic pattern in 14 (60.8 %). In 8.7 % (2 out of 23) of the patients, Y-chromosome sequences were found. This prevalence is very similar to those reported previously. The initial karyotype analysis of these patients did not reveal Y-chromosome material, but they were found positive for Y-specific sequences in the lymphocyte DNA analysis. The PCR technique showed that 2 (8.7 %) of the patients with Turner syndrome had Y-chromosome sequences, both presenting marker chromosomes on cytogenetic analysis.

  6. Clinical disease characteristics according to karyotype in Turner syndrome

    Directory of Open Access Journals (Sweden)

    Chae Young Yeo

    2010-02-01

    Full Text Available Purpose : Turner syndrome (TS is a disorder in which various anomalies can be accompanied, especially cardiovascular, renal, thyroid and auditory problems. The aim of this study is to identify the incidence of these disorders in patients with TS according to karyotype. Methods : We reviewed medical records of 90 patients with TS diagnosed by chromosomal analysis in 4 hospitals from Jan 1998 to Dec 2007. We evaluated these cases by prepared protocol of 4 medical problems. Results : The distribution of karyotype was 45,X (47.8%, mosaic pattern (34.4% and structural aberration group (17.8 %. Renal anomalies, cardiovascular anomalies, thyroid disorders and auditory problems are accompanied in 4.4%, 10.0 %, 11.1% and 5.6%, respectively. 45,X group had renal anomalies (7.0%, cardiovascular anomalies (18.6%, thyroid disorders (9.3% and auditory problems (11.6%. Mosaic group had renal anomalies (3.2%, thyroid disorders (12.9%, no cardiovascular anomalies and auditory problems. Structural aberration group had cardiovascular anomalies (6.3%, thyroid disorders (12.5% and no other 2 problems. Patients with 45,X group had a significant higher incidence of cardiovascular anomalies (P=0.025. Conclusion : Our results indicate that there are differences clinically according to karyotype of TS, especially in incidence of cardiovascular anomalies.

  7. Nonclassic congenital adrenal hyperplasia misdiagnosed as Turner syndrome

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    Vineet V Mishra

    2015-01-01

    Full Text Available 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.

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

    Science.gov (United States)

    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. Copyright © 2016 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  9. Noonan syndrome and Turner syndrome patients respond similarly to 4 years' growth-hormone therapy

    DEFF Research Database (Denmark)

    Lee, Peter A; Ross, Judith L; Pedersen, Birgitte Tønnes

    2015-01-01

    BACKGROUND: Turner syndrome (TS) and Noonan syndrome (NS) are distinct syndromes associated with short stature and other similar phenotypic features. We compared the responses to growth hormone (GH) therapy of TS and NS patients enrolled in the NordiNet® International Outcome Study (IOS) or the A...

  10. Two male patients with ring Y : definition of an interval in Yq contributing to Turner syndrome

    NARCIS (Netherlands)

    Tzancheva, M; Kaneva, R; Kumanov, P; Williams, G; Tyler-Smith, C

    Turner syndrome is thought to result from the haploinsufficiency of genes on the sex chromosomes, but these genes have not been identified yet. We describe two males with deleted ring Y chromosomes, one (TS) with full Turner syndrome and one (DM) without. TS has short stature, skeletal anomalies,

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

    Science.gov (United States)

    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 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.

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    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…

  15. [Pemphigoid gestationis and Turner syndrome; an uncommon association].

    Science.gov (United States)

    Cadoret, F; Lorenzini, F; Parant, O

    2015-09-01

    The authors report an uncommon case of a pregnant woman with Turner syndrome (TS) whose pregnancy (with favorable outcome) was complicated by a pemphigoid gestationis in third trimester. This case points out that monitoring of these pregnancies is not limited to cardiac monitoring. Prevalence of auto-immune diseases is increased in the TS. Auto-immune dermatoses, such as pemphigoid gestationis, are one of the potential complications during pregnancy and should be known to practitioners. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  16. Turner syndrome: update on biology and management across the life span.

    Science.gov (United States)

    Levitsky, Lynne L; Luria, Anne H O'Donnell; Hayes, Frances J; Lin, Angela E

    2015-02-01

    We review recent understanding of the pathophysiology, molecular biology, and management of Turner syndrome. Sophisticated genetic techniques are able to detect mosaicism in one-third of individuals previously thought to have monosomy X. Prenatal detection using maternal blood should permit noninvasive detection of most fetuses with an X chromosome abnormality. Disproportionate growth with short limbs has been documented in this condition, and a target gene of short stature homeobox, connective tissue growth factor (Ctgf), has been described. Liver disease is more common in Turner syndrome than previously recognized. Most girls have gonadal failure. Spontaneous puberty and menarche is more commonly seen in girls with XX mosaicism. Low-dose estrogen replacement therapy may be given early to induce a more normal onset and tempo of puberty. Oocyte donation for assisted reproduction carries a substantial risk, particularly if the woman has known cardiac or aortic disease. Neurodevelopmental differences in Turner syndrome are beginning to be correlated with differences in brain anatomy. An increased understanding of the molecular basis for aspects of this disorder is now developing. In addition, a renewed focus on health maintenance through the life span should provide better general and targeted healthcare for these girls and women.

  17. Coexistence of Mayer-Rokitansky-Küster-Hauser Syndrome and Turner Syndrome: A Case Report.

    Science.gov (United States)

    Białka, Agnieszka; Gawlik, Aneta; Drosdzol-Cop, Agnieszka; Wilk, Krzysztof; Małecka-Tendera, Ewa; Skrzypulec-Plinta, Violetta

    2016-04-01

    Turner syndrome is a common chromosomal disorder, with an incidence of 1 in 2000 live-born female infants. Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) affects 1 in 4500 female births and, rarely, it might be associated with gonadal dysgenesis. A 17-year-old girl was referred to our clinic with short stature and primary amenorrhea. The patient was diagnosed with Turner syndrome and underwent estrogen therapy. At the age of 24 years, just after the patient's sexual initiation, the first complete gynecological examination was performed. A blind-ending vagina was revealed and the patient was diagnosed with MRKH. Early diagnosis of coexistence of MRKH and Turner syndrome, although very difficult, might prevent patients from developing serious complications. Copyright © 2016 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  18. The Turner syndrome in patient with 45X/47XXX mosaic karyotype--case report.

    Science.gov (United States)

    Maciejewska-Jeske, Marzena; Czyzyk, Adam; Meczekalski, Blazej

    2015-07-01

    Turner syndrome (TS) is a gonadal dysgenesis related to partial or total lack of one of the X chromosomes. It this report we describe a young patient presenting some somatic features of TS, who underwent spontaneous puberty and was eumenoorheic up to the age of 23. Using fluorescent in situ hybridization (FISH) mosaic karyotype (45X[131]/47XXX[9]) of TS and triple X syndrome was found. She presented uncommon for TS somatic hemihypotrophy and underwent growth hormone and surgical therapy. The patient was diagnosed with premature ovarian failure when she was 23, with absent follicular reserve. Clinical features of this case and a few published cases will be reviewed briefly.

  19. Alexithymia, Emotion Perception, and Social Assertiveness in Adult Women with Noonan and Turner Syndromes

    NARCIS (Netherlands)

    Roelofs, R.L.; Wingbermühle, P.A.M.; Freriks, K.; Verhaak, C.M.; Kessels, R.P.C.; Egger, J.I.M.

    2015-01-01

    Noonan syndrome (NS) and Turner syndrome (TS) are associated with cognitive problems and difficulties in affective information processing. While both phenotypes include short stature, facial dysmorphisms, and a webbed neck, genetic etiology and neuropsychological phenotype differ significantly. The

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

    NARCIS (Netherlands)

    Roelofs, R.L.; Wingbermühle, P.A.M.; Freriks, K.; Verhaak, C.M.; Kessels, R.P.C.; Egger, J.I.M.

    2015-01-01

    Noonan syndrome (NS) and Turner syndrome (TS) are associated with cognitive problems and difficulties in affective information processing. While both phenotypes include short stature, facial dysmorphisms, and a webbed neck, genetic etiology and neuropsychological phenotype differ significantly. The

  1. Does wastewater discharge have relations with increase of Turner syndrome and Down syndrome?

    Directory of Open Access Journals (Sweden)

    Intae Choi

    2017-08-01

    Full Text Available The purpose of this study is to examine whether water and air pollutants have a relationship with an increase in the genetic disorders Turner syndrome and Down syndrome, which are caused by congenital chromosomal abnormalities, and to generate a hypothesis about the genetic health effects of environmental pollutants. A panel regression based on random effect was conducted on Korea’s metropolitan councils from 2012 to 2014. The dependent variable was the number of Turner syndrome and Down syndrome cases, and the main independent variables were those regarding the water and air pollution. Air pollutants did not have a significant impact on the number of Turner syndrome and Down syndrome cases; however, the increase in number of wastewater discharge companies did have a significant relationship with the number of cases. The more the number of wastewater discharge companies, the more the number Turner syndrome and Down syndrome cases were observed. Therefore, scientific investigation on water and air pollutants in relation with genetic health effects needs to be performed.

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

    Science.gov (United States)

    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,…

  3. Does wastewater discharge have relations with increase of Turner syndrome and Down syndrome?

    Science.gov (United States)

    Choi, Intae

    2017-01-01

    The purpose of this study is to examine whether water and air pollutants have a relationship with an increase in the genetic disorders Turner syndrome and Down syndrome, which are caused by congenital chromosomal abnormalities, and to generate a hypothesis about the genetic health effects of environmental pollutants. A panel regression based on random effect was conducted on Korea's metropolitan councils from 2012 to 2014. The dependent variable was the number of Turner syndrome and Down syndrome cases, and the main independent variables were those regarding the water and air pollution. Air pollutants did not have a significant impact on the number of Turner syndrome and Down syndrome cases; however, the increase in number of wastewater discharge companies did have a significant relationship with the number of cases. The more the number of wastewater discharge companies, the more the number Turner syndrome and Down syndrome cases were observed. Therefore, scientific investigation on water and air pollutants in relation with genetic health effects needs to be performed.

  4. Long QT interval in Turner syndrome--a high prevalence of LQTS gene mutations.

    Science.gov (United States)

    Trolle, Christian; Mortensen, Kristian H; Pedersen, Lisbeth N; Berglund, Agnethe; Jensen, Henrik K; Andersen, Niels H; Gravholt, Claus H

    2013-01-01

    QT-interval prolongation of unknown aetiology is common in Turner syndrome. This study set out to explore the presence of known long QT mutations in Turner syndrome and to examine the corrected QT-interval (QTc) over time and relate the findings to the Turner syndrome phenotype. Adult women with Turner syndrome (n = 88) were examined thrice and 68 age-matched healthy controls were examined once. QTc was measured by one blinded reader (intra-reader variability: 0.7%), and adjusted for influence of heart rate by Bazett's (bQTc) and Hodges's formula (hQTc). The prevalence of mutations in genes related to Long QT syndrome was determined in women with Turner syndrome and a QTc >432.0 milliseconds (ms). Echocardiographic assessment of aortic valve morphology, 24-hour blood pressures and blood samples were done. The mean hQTc in women with Turner syndrome (414.0 ± 25.5 ms) compared to controls (390.4 ± 17.8 ms) was prolonged (pTurner syndrome karyotypes (418.2 ± 24.8 vs. 407.6 ± 25.5 ms; p = 0.055). In women with Turner syndrome and a bQTc >432 ms, 7 had mutations in major Long QT syndrome genes (SCN5A and KCNH2) and one in a minor Long QT syndrome gene (KCNE2). There is a high prevalence of mutations in the major LQTS genes in women with TS and prolonged QTc. It remains to be settled, whether these findings are related to the unexplained excess mortality in Turner women. NCT00624949. https://register.clinicaltrials.gov/prs/app/action/SelectProtocol/sid/S0001FLI/selectaction/View/ts/3/uid/U000099E.

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

    Science.gov (United States)

    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. © The Author(s) 2016.

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

    Science.gov (United States)

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

    1990-09-01

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

  7. Growth hormone treatment in Turner's syndrome: A real world experience

    Directory of Open Access Journals (Sweden)

    Vijay Sheker Reddy Danda

    2017-01-01

    Full Text Available Objective: Short stature is a universal clinical feature of Turner's syndrome (TS. Growth failure begins in fetal life, and adults with TS are on an average 20 cm shorter than the normal female population. Since there is a paucity of data from India regarding the effect of growth hormone (GH on TS patients, we retrospectively analyzed the data of TS patients who are on GH treatment. Methods: This hospital-based observational retrospective study was conducted in a tertiary care hospital of Hyderabad. The data such as height, weight, and bone age of 16 patients who are diagnosed with TS on GH therapy for at least 6 months were included in the study. All the patients were treated with human recombinant GH at the dose of 0.3 mg/kg/week administered as daily subcutaneous injections. Results: The mean age at diagnosis was 12.7 years. The mean height at the start of GH therapy was 1.26 m, and mean height standard deviation score (HSDS was-0.61 when compared to Turner's specific reference data. With a mean duration of GH therapy of 25 months, the mean height at the end of therapy was 1.37 m and the mean height as per HSDS was + 0.37 resulting in a mean height gain of + 0.99 HSDS. Conclusion: Our observation shows that girls with TS benefit from early diagnosis and initiation of treatment with GH.

  8. Nailfold video capillaroscopy in Turner syndrome: a descriptive study Videocapilaroscopia na síndrome de Turner: estudo descritivo

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    Simone C. S. Coelho

    2007-12-01

    Full Text Available BACKGROUND: An increased prevalence of impaired glucose homeostasis is reported in Turner syndrome. Endothelial changes are described in patients with insulin resistance, which may be present in patients with Turner syndrome. Video capillaroscopy is a noninvasive examination that allows assessment of vascular patency. OBJECTIVE: To describe the nailfold morphology of capillaries in Turner syndrome using video capillaroscopy. METHODS: Subjects were studied in a temperature-controlled room, 20 days after no nailfold manipulations. The capillaries were visualized by microscope connected to a television and computer and were studied and classified according to these patterns: loop distribution, papilla, avascular fields, edema, form, capillary limbs, flow and hemorrhagic extravasation. RESULTS: Fifty patients aged between 6-37 years with Turner syndrome were studied. Eighteen (36% patients had normal capillaroscopy with hairpin pattern in loop distribution and no avascular fields. The papilla was ratified in 13 (26% and enlarged in four (8%. Edema occurred in 22 (44% cases. There were three (6% macrocapillaries and three (6% were branched. Tortuosity was present in five (10% patients. Hemorrhagic extravasation occurred in one (2% case. Flow was fast in seven (14%, granulous in five (10% and slow in six (12%. CONCLUSION: There was a high prevalence of nailfold capillaroscopy changes in Turner syndrome and the most prevalent alterations found were edema and ratified papilla.CONTEXTO: Estudos evidenciam distúrbios no metabolismo da glicose na síndrome de Turner. As alterações no endotélio estão descritas em pacientes com resistência insulínica, que pode ocorrer em pacientes com síndrome de Turner, e o estudo dos capilares pela videocapilaroscopia é um exame não-invasivo que permite avaliação da permeabilidade vascular. OBJETIVO: Descrever a morfologia dos capilares na síndrome de Turner usando a videocapilaroscopia. MÉTODO: As pacientes

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

    Science.gov (United States)

    Jhang, Kai-Ming; Chang, Tung-Ming; Chen, Ming; Liu, Chin-San

    2014-04-02

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

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

    Science.gov (United States)

    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.

  11. Rub epilepsy in an infant with Turner syndrome.

    Science.gov (United States)

    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. Copyright © 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  12. Case of Combination of Hyperprolactinemic Hypogonadism and Mosaic Turner Syndrome

    Directory of Open Access Journals (Sweden)

    V.S. Vernyhorodskyi

    2016-04-01

    Full Text Available After detail examination of 24-year-old female patient (cariotype — 46XX/45XO, sex chromatin — 11 %, serum prolactin level — more than 200 mIU/ml (normal level — less than 26,72, ovarian ultrasound, geneticist consultation, magnetic resonance imaging of the hypophysis, the сlinical diagnosis was established: pituitary microadenoma. Hyperprolactinemic hypogonadism. Mosaic Turner syndrome. Genital infantilism. Infertility of endocrine origin. First menstruation occurred in 3 months, and pregnancy — in 4 month after initiation of the treatment with alactin 0.5 mg twice a week, after that bromocriptine 2.5 mg once a day was administered. On the 39–40th week of pregnancy, the patient gave birth to a girl (via cesarean section, whose weight was 3.4 kg and height — 48 cm.

  13. Recombinant human growth hormone in the treatment of Turner syndrome

    Directory of Open Access Journals (Sweden)

    Bessie E Spiliotis

    2008-12-01

    Full Text Available Bessie E SpiliotisDivision of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University of Patras, School of Medicine, Patras, GreeceAbstract: Turner syndrome (TS is a common chromosomal disorder in women that is associated with the absence of one of the X chromosomes. Severe short stature and a lack of pubertal development characterize TS girls, causing psychosocial problems and reduced bone mass. The growth impairment in TS seems to be due to multiple factors including an abnormal growth hormone (GH – insulin-like growth factor (IGF – IGF binding protein axis and haploinsufficiency of the short stature homeobox-containing gene. Growth hormone and sex steroid replacement therapy has enhanced growth, pubertal development, bone mass, and the quality of life of TS girls. Recombinant human GH (hGH has improved the height potential of TS girls with varied results though, depending upon the dose of hGH and the age of induction of puberty. The best final adult height and peak bone mass achievement results seem to be achieved when hGH therapy is started early and puberty is induced at the normal age of puberty in a regimen mimicking physiologic puberty. The initiation of estradiol therapy at an age-appropriate time may also help the TS patients avoid osteoporosis during adulthood. Recombinant hGH therapy in TS seems to be safe. Studies so far show no adverse effects on cardiac function, glucose metabolism or any association with neoplasms but research is still in progress to provide conclusive data on long-term safety.Keywords: Turner syndrome, recombinant growth hormone, growth hormone deficiency, SHOX gene, hormonal replacement therapy

  14. Congenital absence of the portal vein in a child with Turner syndrome

    International Nuclear Information System (INIS)

    Noe, Jacob A.; Burton, Edward M.; Pittman, Heather C.

    2006-01-01

    Congenital absence of the portal vein (CAPV) is a rare malformation associated with hepatic encephalopathy and liver function abnormalities. We report a case of a 2-year-old with Turner syndrome, CAPV, and congenital heart malformations. (orig.)

  15. Congenital absence of the portal vein in a child with Turner syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Noe, Jacob A.; Burton, Edward M. [Department of Radiology, University of Tennessee College of Medicine-Chattanooga Branch, Chattanooga, TN (United States); Pittman, Heather C. [Department of Pediatrics, University of Tennessee College of Medicine-Chattanooga Branch, Chattanooga, TN (United States)

    2006-06-15

    Congenital absence of the portal vein (CAPV) is a rare malformation associated with hepatic encephalopathy and liver function abnormalities. We report a case of a 2-year-old with Turner syndrome, CAPV, and congenital heart malformations. (orig.)

  16. Co-incidence of Turner syndrome and Duchenne muscular dystrophy - an important problem for the clinician.

    Science.gov (United States)

    Kaczorowska, Ewa; Zimowski, Janusz; Cichoń-Kotek, Monika; Mrozińska, Agnieszka; Purzycka, Joanna; Wierzba, Jolanta; Limon, Janusz; Lipska-Ziętkiewicz, Beata S

    Turner syndrome is a relatively common chromosomal disorder which affects about one in 2000 live born females. Duchenne muscular dystrophy is an X-linked recessive disorder affecting 1:3600 live born males. Considering the above, the coexistence of these two diseases may occur only anecdotally. Here, we report a 4 ½ year-old female with classical 45,X Turner syndrome who also had Duchenne muscular dystrophy caused by a point mutation in the dystrophin gene (c.9055delG). The patient showed the typical phenotype of Turner syndrome including distinctive dysmorphic features (short neck, low posterior hairline, wide position of nipples), aortic coarctation and feet lymphedema. Besides, she presented with an unusually early beginning of muscular dystrophy symptoms with infantile-onset motor developmental delay, intellectual disability and early calf muscular hypertrophy. The coexistence of an X-linked recessive disorder should be considered in women affected by Turner syndrome presenting with additional atypical clinical features.

  17. A comparison of affective information processing in Noonan and Turner syndromes: Evidence of alexithymia

    NARCIS (Netherlands)

    Roelofs, R.L.; Wingbermühle, P.A.M.; Freriks, K.; Verhaak, C.M.; Kessels, R.P.C.; Egger, J.I.M.

    2014-01-01

    Objective: Noonan (NS) and Turner syndrome (TS) are associated with cognitive problems and difficulties in affective information processing. While both phenotypes share physical features, genetic etiology and neuropsychological phenotype differ significantly. The present study examines putative

  18. Quantitative liver functions in Turner syndrome with and without hormone replacement therapy

    DEFF Research Database (Denmark)

    Gravholt, Claus Højbjerg; Poulsen, Henrik Enghusen; Ott, Peter

    2007-01-01

    Studies have documented elevated levels of liver enzymes in many females with Turner syndrome (TS). Histology has shown a range of changes. Treatment with female hormone replacement therapy (HRT) reduces liver enzymes....

  19. Quantitative liver functions in Turner syndrome with and without hormone replacement therapy

    DEFF Research Database (Denmark)

    Gravholt, Claus Højbjerg; Poulsen, Henrik Enghusen; Ott, Peter

    2007-01-01

    Studies have documented elevated levels of liver enzymes in many females with Turner syndrome (TS). Histology has shown a range of changes. Treatment with female hormone replacement therapy (HRT) reduces liver enzymes.......Studies have documented elevated levels of liver enzymes in many females with Turner syndrome (TS). Histology has shown a range of changes. Treatment with female hormone replacement therapy (HRT) reduces liver enzymes....

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

    Science.gov (United States)

    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.

  1. Health-related quality of life among children with Turner syndrome: controlled cross-sectional study.

    Science.gov (United States)

    Amedro, Pascal; Tahhan, Nabil; Bertet, Helena; Jeandel, Claire; Guillaumont, Sophie; Mura, Thibault; Picot, Marie-Christine

    2017-08-28

    The aim of the study was to assess health-related quality of life (HR-QoL) in children with Turner syndrome in comparison with controls. We prospectively recruited 16 female girls with Turner syndrome (mean age 15.2±2.6 years) and 78 female controls (mean age 12.7±2.8 years) in randomly selected schools. We used the PedsQL, a generic HR-QoL questionnaire (self and parents' versions). Global HR-QoL scores in Turner syndrome were lower than controls for self-reports (respectively, 74.3±3.0 vs. 82.8±1.3, p=0.01) and parents' reports (62.7±3.8 vs. 80.1±1.7, pTurner syndrome, self-reported HR-QoL was impaired in school functioning (70.6±4.0 vs. 80.71±1.7, p=0.02), social functioning (78.2±4.0 vs. 90.4±1.8, pTurner syndrome, as in previously reported adult studies. In addition to medical treatment and routine clinical follow-up, female girls and teenagers with Turner syndrome should also be supported psychologically by social, educational and psychotherapeutic interventions that aim to address their self-esteem and emotional difficulties.

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

    Science.gov (United States)

    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. Copyright © 2016 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Publicado por Elsevier España, S.L.U. All rights reserved.

  3. FSH, LH, inhibin B and estradiol levels in Turner syndrome depend on age and karyotype: longitudinal study of 70 Turner girls with or without spontaneous puberty

    DEFF Research Database (Denmark)

    Hagen, Casper P; Main, Katharina M; Kjaergaard, Susanne

    2010-01-01

    Ovarian function in Turner syndrome (TS) patients depends on the specific karyotype. This retrospective clinical study evaluates the pituitary-gonadal axis during infancy, childhood and adolescence in TS patients according to karyotype and ovarian function....

  4. Hypertensive Cerebral Hemorrhage in a Patient with Turner Syndrome Caused by Deletion in the Short Arm of the X Chromosome.

    Science.gov (United States)

    Hori, Yusuke S; Ohkura, Takahiro; Ebisudani, Yuki; Umakoshi, Michiari; Ishi, Masato; Oda, Kazunori; Aoi, Mizuho; Inoue, Takushi; Furujo, Mahoko; Tanaka, Hiroyuki; Fukuhara, Toru

    2017-12-23

    Turner syndrome is a chromosomal disorder usually caused by complete deletion of an X chromosome, with deletion in the short arm of the X chromosome being a rare cause of the condition. Patients with Turner syndrome commonly develop hypertension, and associated vascular complications such as aortic dissection or cerebral hemorrhage have been reported. Cerebral hemorrhage in Turner syndrome is a rare complication, and only a few reports have been published. In these reports, all patients have XO karyotypes or a mosaic type as the cause of Turner syndrome, while no other Turner syndrome types have been documented. In this report, we present for the first time a patient with Turner syndrome caused by deletion in the short arm of the X chromosome who experienced hypertensive hemorrhage as a late complication. © 2017 S. Karger AG, Basel.

  5. FSH, LH, inhibin B and estradiol levels in Turner syndrome depend on age and karyotype: longitudinal study of 70 Turner girls with or without spontaneous puberty

    DEFF Research Database (Denmark)

    Hagen, Casper P; Main, Katharina M; Kjaergaard, Susanne

    2010-01-01

    Ovarian function in Turner syndrome (TS) patients depends on the specific karyotype. This retrospective clinical study evaluates the pituitary-gonadal axis during infancy, childhood and adolescence in TS patients according to karyotype and ovarian function.......Ovarian function in Turner syndrome (TS) patients depends on the specific karyotype. This retrospective clinical study evaluates the pituitary-gonadal axis during infancy, childhood and adolescence in TS patients according to karyotype and ovarian function....

  6. A Case of Turner Syndrome with Multiple Embolic Infarcts

    Directory of Open Access Journals (Sweden)

    Cindy W. Yoon

    2016-09-01

    Full Text Available 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.

  7. Long QT interval in Turner syndrome--a high prevalence of LQTS gene mutations.

    Directory of Open Access Journals (Sweden)

    Christian Trolle

    Full Text Available QT-interval prolongation of unknown aetiology is common in Turner syndrome. This study set out to explore the presence of known long QT mutations in Turner syndrome and to examine the corrected QT-interval (QTc over time and relate the findings to the Turner syndrome phenotype.Adult women with Turner syndrome (n = 88 were examined thrice and 68 age-matched healthy controls were examined once. QTc was measured by one blinded reader (intra-reader variability: 0.7%, and adjusted for influence of heart rate by Bazett's (bQTc and Hodges's formula (hQTc. The prevalence of mutations in genes related to Long QT syndrome was determined in women with Turner syndrome and a QTc >432.0 milliseconds (ms. Echocardiographic assessment of aortic valve morphology, 24-hour blood pressures and blood samples were done.The mean hQTc in women with Turner syndrome (414.0 ± 25.5 ms compared to controls (390.4 ± 17.8 ms was prolonged (p432 ms, 7 had mutations in major Long QT syndrome genes (SCN5A and KCNH2 and one in a minor Long QT syndrome gene (KCNE2.There is a high prevalence of mutations in the major LQTS genes in women with TS and prolonged QTc. It remains to be settled, whether these findings are related to the unexplained excess mortality in Turner women.NCT00624949. https://register.clinicaltrials.gov/prs/app/action/SelectProtocol/sid/S0001FLI/selectaction/View/ts/3/uid/U000099E.

  8. Impaired endothelial function in pediatric patients with turner syndrome and healthy controls: a case-control study

    Directory of Open Access Journals (Sweden)

    O'Gorman Clodagh S

    2012-04-01

    Full Text Available Abstract Background Turner Syndrome women are at high risk of vascular disease and the assessment of early risk factors in Turner Syndrome girls is an emerging focus of research. Our objective was to evaluate endothelial function (EF, a preclinical measure of atherosclerosis, in Turner Syndrome girls compared with controls. Methods A cross-sectional case-control study of Turner Syndrome girls and healthy controls. Subjects underwent fasting insulin and glucose with calculation of HOMA-IR, fasting lipid profile, anthropometrics, and EF testing using peripheral arterial tonometry (PAT. Subjects, aged 10-18 years, had karyotype-confirmed Turner Syndrome; growth hormone (GH, thyroxine and estrogen use were not exclusion criteria. Controls were age- and BMI-matched healthy girls. Fifteen Turner Syndrome and 15 controls were recruited. Results Turner Syndrome girls had lower height, higher HDL and higher waist:height ratio than controls. PAT-hyperemia ratio (RH-PAT scores were lower in Turner Syndrome (1.64 ± 0.34 vs. 2.08 ± 0.32, p = 0.002 indicating impaired EF. Among Turner Syndrome, RH-PAT did not vary with estrogen therapy or with karyotype 45,XO compared with other karyotypes. However, endothelial function was better in GH-treated compared with GH-untreated Turner Syndrome (1.80 ± 0.36 vs. 1.4 + 0.22, p = 0.02 although there were no differences in HOMA-IR, adiponectin or IGF-1. Conclusion Girls with Turner Syndrome exhibit impaired endothelial function compared with controls, which may explain higher risk for vascular disease. GH may protect endothelial function in Turner Syndrome.

  9. New insights on diabetes in Turner syndrome: results from an observational study in adulthood.

    Science.gov (United States)

    Ibarra-Gasparini, Daniela; Altieri, Paola; Scarano, Emanuela; Perri, Annamaria; Morselli-Labate, Antonio M; Pagotto, Uberto; Mazzanti, Laura; Pasquali, Renato; Gambineri, Alessandra

    2018-03-01

    To explore the characteristics of diabetes mellitus in adults with Turner syndrome. Observational study consisting of a prospective phase after the access of adults with Turner syndrome to the Endocrinology Unit (median period of follow-up 15.6, interquartile range: 12.0-24.5 months) and a retrospective collection of data from the diagnosis of Turner syndrome until the time of access to the Endocrinology Unit. A total of 113 Italian Turner syndrome patients were included in the study. During the prospective phase of the study, each patient underwent physical examination, fasting blood sampling, and an oral glucose tolerance test on a yearly basis. Oral glucose tolerance test was used to perform the diagnosis of diabetes mellitus. Before access to the Endocrinology Unit, diabetes mellitus was diagnosed in two Turner syndrome patients. Another five cases of diabetes mellitus were diagnosed at the first access to the Endocrinology Unit, whereas seven new cases of diabetes mellitus were diagnosed during the prospective phase of the study. At the diagnosis of diabetes mellitus, only one patient had fasting glucose above 126 mg/dL, and only two had an HbA1c value >6.5% (48 mmol/mol). When compared to normo-glucose tolerant patients, the diabetic patients had a significantly lower insulin-to-glucose ratio at 30 and 60 min of the oral glucose tolerance test. In the regression analyses, only age was associated with the development of diabetes mellitus. This study confirms that diabetes mellitus is frequent in Turner syndrome and suggests that it is specific to the syndrome. In addition, this study demonstrates that oral glucose tolerance test is a more sensitive test than HbA1c for the diagnosis of diabetes mellitus in Turner syndrome.

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

    Science.gov (United States)

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

    2008-01-01

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

  11. Left-sided congenital heart lesions in mosaic Turner syndrome.

    Science.gov (United States)

    Bouayed Abdelmoula, Nouha; Abdelmoula, Balkiss; Smaoui, Walid; Trabelsi, Imen; Louati, Rim; Aloulou, Samir; Aloulou, Wafa; Abid, Fatma; Kammoun, Senda; Trigui, Khaled; Bedoui, Olfa; Denguir, Hichem; Mallek, Souad; Ben Aziza, Mustapha; Dammak, Jamila; Kaabi, Oldez; Abdellaoui, Nawel; Turki, Fatma; Kaabi, Asma; Kamoun, Wafa; Jabeur, Jihen; Ltaif, Wided; Chaker, Kays; Fourati, Haytham; M'rabet, Samir; Ben Ameur, Hedi; Gouia, Naourez; Mhiri, Mohamed Nabil; Rebai, Tarek

    2018-04-01

    In the era of the diseasomes and interactome networks, linking genetics with phenotypic traits in Turner syndrome should be studied thoroughly. As a part of this stratagem, mosaicism of both X and Y chromosome which is a common finding in TS and an evaluation of congenital heart diseases in the different situations of mosaic TS types, can be helpful in the identification of disturbed sex chromosomes, genes and signaling pathway actors. Here we report the case of a mosaic TS associated to four left-sided CHD, including BAV, COA, aortic aneurysms and dissections at an early age. The mosaicism included two cell lines, well-defined at the cytogenetic and molecular levels: a cell line which is monosomic for Xp and Xq genes (45,X) and another which is trisomic for pseudoautosomal genes that are present on the X and Y chromosomes and escape X inactivation: 45,X[8]/46,X,idic(Y)(pter→q11.2::q11.2→pter)[42]. This case generates two hypotheses about the contribution of genes linked to the sex chromosomes and the signaling pathways involving these genes, in left-sided heart diseases. The first hypothesis suggests the interaction between X chromosome and autosomal genes or loci of aortic development, possibly dose-dependent, and which could be in the framework of TGF-β-SMAD signaling pathways. The second implies that left-sided congenital heart lesions involve sex chromosomes loci. The reduced dosage of X chromosome gene(s), escaping X inactivation during development, contributes to this type of CHD. Regarding our case, these X chromosome genes may have homologues at the Y chromosome, but the process of inactivation of the centromeres of the isodicentric Y spreads to the concerned Y chromosome genes. Therefore, this case emerges as an invitation to consider the mosaics of Turner syndrome and to study their phenotypes in correlation with their genotypes to discover the underlying developmental and genetic mechanisms, especially the ones related to sex chromosomes.

  12. Language use in females with fragile X or Turner syndrome during brief initial social interactions.

    Science.gov (United States)

    Mazzocco, Michèle M M; Thompson, Laurie; Sudhalter, Vicki; Belser, Richard C; Lesniak-Karpiak, Katarzyna; Ross, Judith L

    2006-08-01

    Fragile X and Turner syndromes are associated with risk of atypical social function. We examined language use, including normal and atypical speech, during initial social interactions among participants engaged in a brief social role play with an unfamiliar adult. There were 27 participants with Turner syndrome, 20 with fragile X syndrome and 28 in an age-matched comparison group. Females with fragile X did not exhibit more abnormal language, but exhibited less of what is typical during initial interactions. Overall rates of dysfluencies did not differ, although females with fragile X made more phrase repetitions. Females with Turner syndrome had no language use abnormalities. Our findings suggest that language use may influence social function in females with fragile X syndrome and that such language characteristics may be observed in the context of brief encounters with an unfamiliar adult.

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

    Science.gov (United States)

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

    2017-06-01

    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.

  14. CHARACTERIZATION OF SPONTANEOUS AND INDUCED PUBERTY IN GIRLS WITH TURNER SYNDROME.

    Science.gov (United States)

    Folsom, Lisal J; Slaven, James E; Nabhan, Zeina M; Eugster, Erica A

    2017-07-01

    To characterize puberty in girls with Turner syndrome (TS) and determine whether specific patient characteristics are associated with the timing of menarche. We also sought to compare spontaneous versus induced puberty in these patients. Medical records of girls followed in our Pediatric Endocrine clinic for TS from 2007 to 2015 were reviewed. Fifty-three girls were included, of whom 10 (19%) achieved menarche spontaneously and 43 (81%) received hormone replacement therapy (HRT). Of girls receiving HRT, a younger age at estrogen initiation correlated with a longer time to menarche (P = .02), and a mosaic karyotype was associated with a shorter time to menarche (P = .02), whereas no relationship was seen for body mass index, estrogen regimen, or maternal age at menarche. Nineteen girls (44%) receiving HRT had bleeding on estrogen alone at a wide dose range and were more likely to be on transdermal than oral preparations (P = .01). Girls with spontaneous puberty achieved menarche at a younger age (PTurner syndrome.

  15. Treatment of Turner's syndrome with recombinant human growth hormone (somatrem).

    Science.gov (United States)

    Lippe, B; Rosenfeld, R G; Hintz, R L; Johanson, A J; Frane, J; Sherman, B

    1988-01-01

    This report extends to 3 years the prospective study of the effects of somatrem alone or in combination with oxandrolone on growth in Turner's syndrome. Sixty-seven patients completed the 1-year study period during which all treatment groups had statistically increased height velocities as compared to the control group. Oral glucose tolerance and insulin responses remained unchanged after 1 year of somatrem treatment. The group receiving oxandrolone experienced an increase in integrated glucose response and the group receiving combined therapy an increase in both integrated glucose and insulin responses. During the second and third years the somatrem group remained on the same dose and treatment schedule and grew at mean velocities of 5.4 +/- 1.1 and 4.6 +/- 1.4 cm/year. The dose of oxandrolone was reduced by 50% during the second and third years for the combination group. The somatrem dose remained unchanged. This group had height velocities of 7.4 +/- 1.4 cm and 6.1 +/- 1.5 cm/year. The control group and the group treated with oxandrolone alone were converted to combined therapy at the lowered oxandrolone dose. Their growth rates during the second year were 8.3 +/- 1.2 and 7.1 +/- 1.6 cm/year, respectively. Using bone age determinations and the methods of Bayley and Pinneau, all groups currently show predicted increases in final adult height.

  16. Turner syndrome--issues to consider for transition to adulthood.

    Science.gov (United States)

    Lucaccioni, Laura; Wong, Sze Choong; Smyth, Arlene; Lyall, Helen; Dominiczak, Anna; Ahmed, S Faisal; Mason, Avril

    2015-03-01

    Turner syndrome (TS) is associated with a spectrum of health problems across the age span, which requires particular attention during the transition period in these adolescents. The majority of girls with TS require oestrogen replacement from puberty onwards, which is important for adequate feminization, uterine development and maintenance of bone health. There is a lifetime increased risk from autoimmune conditions like hypothyroidism, coeliac disease, hearing loss and aortic dilatation with the potential to lead to aortic dissection. A systematic and holistic approach to provision of health care in TS is needed. Several unanswered questions remain, including the choice of hormone replacement therapy in the young person with TS and in adulthood; the optimal mode of cardiovascular assessment; the best management and assessment prior to and during pregnancy. The optimal model of care and transition to adult services in TS requires attention. Further research is needed in relation to cardiovascular risk assessment, pregnancy management and hormone replacement therapy in TS. © The Author 2014. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  17. Methylenetetrahydrofolate reductase gene polymorphisms in Egyptian Turner Syndrome patients.

    Science.gov (United States)

    Ismail, Manal F; Zarouk, Waheba A; Ruby, Mona O; Mahmoud, Wael M; Gad, Randa S

    2015-01-01

    Folate metabolism dysfunctions can result in DNA hypomethylation and abnormal chromosome segregation. Two common polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) encoding gene (C677T and A1298C) reduce MTHFR activity, but when associated with aneuploidy, the results are conflicting. Turner Syndrome (TS) is an interesting model for investigating the association between MTHFR gene polymorphisms and nondisjunction because of the high frequency of chromosomal mosaicism in this syndrome. To investigate the association of MTHFR gene C677T and A1298C polymorphisms in TS patients and their mothers and to correlate these polymorphisms with maternal risk of TS offspring. MTHFR C677T and A1298C polymorphisms were genotyped in 33 TS patients, their mothers and 15 healthy females with their mothers as controls using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and sequencing technique. Genotype and allele frequencies of both C677T and A1298C were not significantly different between TS cases and controls. There were no significant differences in C677T genotype distribution between the TS mothers and controls (p=1). The MTHFR 1298AA and 1298AC genotypes were significantly increased in TS mothers Vs. control mothers (p=0.002). The C allele frequency of the A1298C polymorphism was significantly different between the TS mothers and controls (p=0.02). The association of A1298C gene polymorphism in TS patients was found to increase with increasing age of both mothers (p=0.026) and fathers (p=0.044) of TS cases. Our findings suggest a strong association between maternal MTHFR A1298C and risk of TS in Egypt.

  18. Cholesteatoma has a high prevalence in Turner syndrome, highlighting the need for earlier diagnosis and the potential benefits of otoscopy training for paediatricians.

    Science.gov (United States)

    Lim, D B N; Gault, E J; Kubba, H; Morrissey, M S C; Wynne, D M; Donaldson, M D C

    2014-07-01

    Girls with Turner syndrome are prone to cholesteatoma, a serious suppurative middle ear disease. We aimed to confirm its high prevalence in Turner syndrome, identify risk factors and suggest possible strategies for earlier detection. We reviewed 179 girls with Turner syndrome between 1989 and 2012 to identify cases of cholesteatoma. Seven girls (3.9%) had cholesteatoma (index girls) and each was compared with three age-matched girls without cholesteatoma (comparison girls). All the index girls had either the 45,X or 45,X/46X,i(Xq) karyotypes. Nine ears were initially affected, with three recurrences in two girls. Median age at first cholesteatoma presentation was 11.9 years (range: 7.5-15.2), with otorrhoea for three (range: one to seven) months in all 12 affected ears. Index girls had a significantly higher proportion of previous recurrent acute (p = 0.007) and chronic otitis media (p = 0.008), chronic perforation (p = 0.038) aural polyps (p Turner syndrome. Risk factors include 45,X and 46,XiXq karyotypes; a history of chronic otitis media, tympanic membrane retraction and persistent otorrhoea; and older age. Earlier recognition of ear disease is needed and otoscopy training for paediatricians caring for Turner syndrome patients may be beneficial. ©2014 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

  19. Horseshoe kidney with growth retardation: Don't forget Turner syndrome.

    Science.gov (United States)

    Arslansoyu-Çamlar, Seçil; Soylu, Alper; Abacı, Ayhan; Türkmen, Mehmet Atilla; Ülgenalp, Ayfer; Kavukçu, Salih

    2016-01-01

    Horseshoe kidney is the most frequent renal fusion anomaly that is usually asymptomatic and isolated malformation. However it can be seen with various syndromes and chromosomal anomalies. It was reported that 15-35% of Turner syndrome cases (TS) also display horseshoe kidney condition. TS is a chromosomal anomaly that had been characterized by delayed puberty, short body height and gonadal dysgenesis. In this report a five-year-old girl with horseshoe kidney, which has growth retardation during follow-up as only symptom of Turner syndrome.

  20. Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome.

    Science.gov (United States)

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

    2014-01-01

    Turner syndrome is a developmental disorder caused by partial or complete monosomy for the X chromosome in 1 in 2,500 females. We hypothesized that single-nucleotide polymorphism (SNP) array genotyping could provide superior resolution in comparison to metaphase karyotype analysis to facilitate genotype-phenotype correlations. We genotyped 187 Turner syndrome patients with 733,000 SNP marker arrays. All cases met diagnostic criteria for Turner syndrome based on karyotypes (60%) or characteristic physical features. The SNP array results confirmed the diagnosis of Turner syndrome in 100% of cases. 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 the SNP array data did not detect X-autosome translocations (three cases) but did identify two derivative Y chromosomes and 13 large copy-number variants that were not detected by karyotyping. Our study is the first systematic comparison between the two methods and supports the utility of SNP array genotyping to address clinical and research questions in Turner syndrome.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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. Copyright © 2014 National Stroke Association. Published by Elsevier Inc. All rights reserved.

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    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…

  6. Inhibin A and B in adolescents and young adults with Turner's syndrome and no sign of spontaneous puberty

    DEFF Research Database (Denmark)

    Gravholt, Claus Højbjerg; Naeraa, Rune Weis; Andersson, Anna-Maria

    2002-01-01

    The aim of this study was to assess levels of inhibin A and B, FSH and LH in Turner's syndrome (TS) without signs of spontaneous ovarian activity.......The aim of this study was to assess levels of inhibin A and B, FSH and LH in Turner's syndrome (TS) without signs of spontaneous ovarian activity....

  7. Mosaic male fetus of Turner syndrome with partial chromosome Y: A case report.

    Science.gov (United States)

    Xue, Dan; Cao, Dong-Hua; Mu, Kai; Lv, Yuan; Yang, Jun

    2018-03-08

    Turner syndrome, characterized by the presence of a monosomy X cell line, is a common chromosomal disorder. Patients with Turner syndrome are usually phenotypically female, and male cases are rarely reported. Here, we report a fetus with a mosaic karyotype: mos 45,X/46,X,del(Y)(q11.21). The fetus was initially misdiagnosed as female with Turner syndrome by both noninvasive prenatal testing and cytogenetic analysis of amniotic fluid and was subsequently found to have male anatomy by antenatal ultrasonography at 24 weeks gestational age. Through single nucleotide polymorphism-array and fluorescence in situ hybridization testing, we found that there was a truncated Y chromosome with sex-determining region Y (SRY) present in some cells of the fetus, which caused the male features in the fetus. © 2018 Japan Society of Obstetrics and Gynecology.

  8. The prevalence of turner syndrome in girls presenting with coarctation of the aorta.

    Science.gov (United States)

    Wong, Sze Choong; Burgess, Trent; Cheung, Michael; Zacharin, Margaret

    2014-02-01

    To determine the prevalence of Turner syndrome in girls presenting with coarctation of the aorta (CoA). A total of 132 girls with known structural CoA was identified. Those girls who had no previous karyotype analysis performed were asked to participate in a research study in which a banded karyotype with 50-cell count was performed. Of 132 girls with CoA, 55 (41.7%) had karyotype analysis within 6 months of cardiac diagnosis. Three girls underwent karyotyping later because of clinical concerns. Of the 74 girls with CoA who had not had a karyotype, 38 (51.4%) consented to the study. Results were available for 37 girls. All were 46,XX. Five patients with Turner syndrome were identified in the 95 girls with CoA who had karyotype analysis (4 from early karyotype and 1 diagnosed later), which translated into a minimum prevalence of 5.3% of Turner syndrome in this group of girls with CoA. In addition, one infant with a 20-cell 46,XX karyotype had features of Turner syndrome. Our study demonstrated for the first time in a large cohort that 5.3% of girls presenting with CoA are found to have Turner syndrome when karyotyping is performed. Given the spectrum of preventable and treatable health problems after the diagnosis of Turner syndrome, we believe that all girls with CoA should have a karyotype analysis, ideally with at least 50-cell count, at the time of diagnosis of CoA. Copyright © 2014 Mosby, Inc. All rights reserved.

  9. What are the most common first-trimester ultrasound findings in cases of Turner syndrome?

    Science.gov (United States)

    Wiechec, Marcin; Knafel, Anna; Nocun, Agnieszka; Wiercinska, Ewa; Ludwin, Artur; Ludwin, Inga

    2017-07-01

    To identify the most common first-trimester ultrasound findings in Turner syndrome (TS). To evaluate which first-trimester findings can be best used to predict the likelihood of TS. This was a prospective study, based on singleton pregnancies. The referrals included 6210 patients. Scan protocol covered a review of the early fetal anatomy and markers of aneuploidy. Study population comprised 5644 pregnancies: 5613 with a normal karyotype and 31 cases of TS. Statistically significant differences (p  3.5 mm and right dominant heart (RDH) augmented the risk of TS risk by 991 and 314 times, respectively. First-trimester sonography is a feasible method to identify the most characteristic features of TS fenotype. When the first-trimester pattern of TS is considered, a highly thickened NT, FHR above the 95th percentile, abnormal ductus venosus velocimetry, fetal hydrops, and RDH should be specifically searched for.

  10. Analysis of clinic and osteal change in Turner syndrome (report of 15 cases)

    International Nuclear Information System (INIS)

    Ye Zhiqiu; Guo Qinglu; Feng Changzheng; Wei Beiyang; Xiao Wei; Liu Yongxi; Zhang Yan

    2006-01-01

    Objective: To research the clinical and osteal radiology imaging features in Turner's syndrome. Methods: Analyzed the clinical and osteal radiology imaging features of 15 Turner's syndrome. Results: 15 patients were Karyotyped into 3 groups I, 45, X, n=8; II, 46, XX, n=5; III, 46, XX/45, X, n = 2. Radiology imaging features: osteo-porosis, n=14; metacarpal sign, n=8; phahanx, n=9; cubitus valgus, n=10; vertebra steodystrophia, n=5; brachy-dactylya, n=9; basilar impression malformation, n=11. Conclusion: The terminal heights of Turner' s patients were marked lower than normal growth, hormone was deficiency, learning ability declined and the sex gland was hypoplastic. The typical imaging feature do main reference value to diagnosis. (authors)

  11. Growth hormone treatment modalities in girls with Turner syndrome

    NARCIS (Netherlands)

    A. van Teunenbroek (Arne)

    1996-01-01

    textabstractThe November 1938 issue of Endocrinology published a paper by the American physician Henry Turner which described seven females exhibiting certain physical features including sh0l1 stature, sexual infantilism, webbing of the neck, low posterior hairline, and increased carrying angle of

  12. Delayed presentation of turner syndrome: Challenge to optimal management

    Directory of Open Access Journals (Sweden)

    Uma Kaimal Saikia

    2017-01-01

    Full Text Available Background: Turner syndrome (TS is a chromosomal disorder associated with dysmorphic features and comorbidities, with recent trends focusing on early diagnosis for adequate management. Aim: The aim is to study the age and mode of presentation of TS, associated comorbidities and look for any correlation with the genotype. Material and Methods: This was a retrospective analysis of girls with TS attending the endocrinology clinic of a tertiary care center. Their age, mode of presentation, and clinical features were noted. All participants underwent ear examination, echocardiography, and ultrasonography of the abdomen. Laboratory investigations included serum T4, thyroid-stimulating hormone, thyroid peroxidase antibodies, follicle-stimulating hormone, fasting, and 2-h plasma glucose after 75 g glucose load and a karyotype. Simple descriptive statistical methods were used. Results: Seventeen cases of TS were seen with a median age of presentation of 18 years (range 14–42 years. Primary amenorrhea was the most common reason for seeking medical attention (76.4% followed by short stature and diabetes mellitus (11.8% each. The mean height at presentation was 137.5 ± 5.4 cm. Monosomy of X chromosome (45,X was the most common karyotype obtained in 58.8% of the patients, followed by 45,X/46, XX in 17.6%, 45,X/46X,i(X(q10 in 11.8%, and 45,X/47,XXX and 46X,delXp11.2 in 5.9% patients each. Bicuspid aortic valve was seen in two patients having a 45,X/46,XX karyotype. Conclusion: Primary amenorrhea is the most common presenting feature in girls with TS leading to a delayed age of presentation. Short stature and dysmorphic features are often overlooked in infancy and childhood due to socioeconomic factors. This late age of presentation is a cause of concern as early detection and management is important for height outcomes, bone health, and psychosocial support. Assessment of comorbidities becomes important in this setting.

  13. Clinical features of women with Turner syndrome experiencing transition period in Japan.

    Science.gov (United States)

    Nishigaki, Satsuki; Hamazaki, Takashi; Tsuruhara, Akitoshi; Yoshida, Toshiko; Imamura, Takuji; Inada, Hiroshi; Fujita, Keinosuke; Shintaku, Haruo

    2017-05-30

    Turner syndrome results from the entire or partial loss of the second X chromosome, and is associated with a number of medical problems. Affected women require long-term medical follow-up. This study investigated the status of medical follow-up focusing on the transition for young adult women with Turner syndrome (TS). The clinical profiles of 63 women with TS over the age of 16 were retrospectively examined. Thirty-three women are continuously followed by pediatric endocrinologists at our pediatric division. Twenty women were transferred to gynecologists as primary care physicians. Eight young adult women dropped out of the regular health check-up from our pediatric division even though 7 women were undergoing estrogen replacement therapy. We further reviewed the complications and management of the 33 women who were continuously followed at our pediatric division. A high incidence of obesity and liver dysfunction were observed in this age group (23.5±8.7). Nineteen out of 33 women consulted a cardiologist in the adult care division for cardiovascular complications. In the analysis of 20 women who were transferred to gynecologists, mainly two gynecologists accepted the transfer and have become accustomed to clinical care for TS. Seven women who were followed by the gynecologist in our facility were adequately managed for lifelong complications. Since there is no clear framework for transition in Japan, coordination with other specialists, especially gynecologists, is essential for the successful management of adult women with TS. Patient education and provision of information are required for establishing self-advocacy, which will prevent drop-out.

  14. Short bi-iliac distance in prenatal Ullrich-Turner syndrome

    DEFF Research Database (Denmark)

    Hartling, Ulla B; Hansen, Birgit Fischer; Keeling, Jean W

    2002-01-01

    The purpose of the present study is to evaluate the bi-iliac distance and the caudo-cranial position of the iliac bones in Ullrich-Turner syndrome (UTS) fetuses compared to recently published standards for normal fetuses. Whole-body radiographs in antero-posterior projections of 24 UTS fetuses (c...

  15. Whole Body Magnetic Resonance Imaging in the Diagnosis of Parsonage Turner Syndrome

    International Nuclear Information System (INIS)

    Ryan, M.; Twair, A.; Nelson, E.; Brennan, D.; Eustace, S.

    2004-01-01

    Purpose: To describe magnetic resonance imaging (MRI) findings in patients with suspected Parsonage Turner syndrome and to emphasize the value of an additional whole body MR scan to improve specificity of this diagnosis. Material and Methods: Three patients with proven Parsonage Turner syndrome referred for conventional MRI of the shoulder girdle and additional whole body turboSTIR MRI were included for study. Results: In each case, imaging revealed edema in the muscles of the shoulder girdle. Whole body turboSTIR MRI scan confirmed localized unilateral changes in each case improving specificity and confidence in the diagnosis of Parsonage Turner syndrome in each case. Conclusion: Whole body turboSTIR MR imaging is a useful diagnostic tool in the evaluation of patients with suspected Parsonage Turner syndrome. Inclusion of the brain, neck, brachial plexus, and extremity musculature at whole body imaging allows differentiation from polymyositis and elimination of additional causes of shoulder girdle pain and weakness including gross lesions in the brain, neck, and brachial plexus by a single non-invasive study

  16. Wish to conceive and concerns to develop cardiovascular complications during pregnancy in patients with Turner syndrome

    NARCIS (Netherlands)

    I.M. van Hagen (Iris); A.L. Duijnhouwer (Anthonie L.); M.J. ten Kate-Booij (Marianne); R.H.M. Dykgraaf (Ramon); J.J. Duvekot (Hans); E.M.W.J. Utens (Elisabeth); J.W. Roos-Hesselink (Jolien)

    2017-01-01

    textabstractIntroduction: Turner syndrome (TS) is associated with subfertility and infertility. Nevertheless, an increasing number of women become pregnant through oocyte donation. The wish to conceive may be negatively influenced by the fear of cardiovascular complications. The aim was to

  17. A nonmosaic 45,X karyotype in a mother with Turner's syndrome and in her daughter.

    Science.gov (United States)

    Cools, Martine; Rooman, Raoul P A; Wauters, Jan; Jacqemyn, Yves; Du Caju, Marc V L

    2004-10-01

    To describe a woman with a nonmosaic (45,X) form of Turner's syndrome who gave birth to a girl with 45,X Turner syndrome. Patient report. Outpatient clinic of a university hospital. A woman with typical phenotypic features of Turner syndrome and a 45,X karyotype and her daughter with the same karyotype. None. Routine karyotype analysis on 200 white blood cells on two different occasions, on skin fibroblasts (1,000 mitoses) and on ovarian fibroblasts. Translocation of X-chromosome material was investigated by a complete X paint and fluorescent in situ hybridization analysis. The patient had a spontaneous puberty and became pregnant on three occasions. Her first daughter has a normal karyotype, the second pregnancy ended in spontaneous abortion, and after the third pregnancy, a girl was born with a 45,X karyotype. Karyotype analysis of a large number of mitoses in three different cell types failed to demonstrate any mosaicism. Translocation of X-chromosome material was ruled out by fluorescent in situ hybridization analysis with an X paint. This is a rare case of pregnancy in a nonmosaic Turner syndrome patient and, to our knowledge, is the only one that resulted in a live-born baby with the same karyotype. Cryptic mosaicism could not be found despite thorough investigations. Some hypotheses are presented that may explain this unique event.

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

    Science.gov (United States)

    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. Slow motor performance in girls with Turner syndrome is not related to increased neuromotor noise

    NARCIS (Netherlands)

    Nijhuis-Van der Sanden, M.W.G.; Asseldonk, E.H.F. van; Eling, P.A.T.M.; Galen, G.P. van

    2003-01-01

    This study examined the relationship between decreased speed-accuracy trade-off and increased neuromotor noise in girls with Turner Syndrome (TS). #$$# Fifteen TS girls and 15 age-matched controls performed isometric force contractions with both index fingers separately at five force levels based on

  20. EFFECT OF GROWTH-HORMONE TREATMENT ON CRANIOFACIAL GROWTH IN TURNERS SYNDROME

    NARCIS (Netherlands)

    RONGENWESTERLAKEN, C; VANDERBORN, E; PRAHLANDERSEN, B; VONTEUNENBROEK, A; MANESSE, P; OTTEN, BJ; VANDERTWEEL, [No Value; KUIJPERSJAGTMAN, AM; VANDERWAAL, HAD; DRAYER, NM; WIT, JM; VANDERBRANDE, JL

    A cephalometric study was performed in 19 patients with Turner's syndrome, aged 8.7-16.5 years. A lateral roentgencephalogram was taken before and after two years of treatment with biosynthetic growth hormone in a dose of 24 IU/m2/week. During two years of growth hormone treatment, the mandibular

  1. Normal tempo of bone formation in Turner syndrome despite signs of accelerated bone resorption

    DEFF Research Database (Denmark)

    Cleemann, Line Hartvig; Holm, Kirsten Bagge; Kobbernagel, Hanne

    2011-01-01

    Aims: To evaluate area bone mineral density (aBMD) and volumetric BMD (vBMD) by dual-energy X-ray absorptiometry, and relations to bone markers and hormones in adolescent women with Turner syndrome (TS). Methods: Cross-sectional study in TS patients (n = 37, 16.7 ± 3.4 years) and control group (n...

  2. Normal Tempo of Bone Formation in Turner Syndrome despite Signs of Accelerated Bone Resorption

    DEFF Research Database (Denmark)

    Cleemann, Line; Holm, Kirsten; Kobbernagel, Hanne

    2011-01-01

    Aims: To evaluate area bone mineral density (aBMD) and volumetric BMD (vBMD) by dual-energy X-ray absorptiometry, and relations to bone markers and hormones in adolescent women with Turner syndrome (TS). Methods: Cross-sectional study in TS patients (n = 37, 16.7 ± 3.4 years) and control group (n...

  3. Disproportional geometry of the proximal femur in patients with Turner syndrome: a cross-sectional study

    DEFF Research Database (Denmark)

    Nissen, Nis; Gravholt, Claus H; Abrahamsen, Bo

    2007-01-01

    OBJECTIVE: Patients with Turner syndrome (TS) have altered growth and increased risk of osteoporosis due to oestrogen deficiency and possibly a host of other factors. Thus, TS patients have a 4.9-fold increased risk of femoral neck fractures. Most patients are treated with oestrogen during puberty...

  4. Long QT interval in Turner syndrome – a high prevalence of LQTS gene mutations

    DEFF Research Database (Denmark)

    Trolle, Christian; Mortensen, Kristian Havmand; Pedersen, Lisbeth Nørum

    Objective: QT interval prolongation of unknown aetiology is common in Turner syndrome (TS). This study set out to explore the presence of known pathogenic long QT (LQT) mutations in TS and to examine the corrected QT interval (QTc) over time and relate the findings to the TS phenotype. Methods...

  5. Parsonage-Turner syndrome in a patient with bilateral shoulder pain: A case report.

    Science.gov (United States)

    Ohta, Ryuichi; Shimabukuro, Akira

    2017-11-01

    Objective: Parsonage-Turner syndrome is a peripheral neuropathy characterized by acute onset shoulder pain, myalgia, and sensory disturbances. The present report discusses a rare case of Parsonage-Turner syndrome and highlights the importance of accurate history recording and thorough physical examination for the diagnosis of the disease in rural areas. Patient: A 28-year-old woman presented to our clinic with acute bilateral shoulder pain and difficulty moving her right arm. A diagnosis of Parsonage-Turner syndrome was suspected based on the progression of symptoms, severity of pain, and lack of musculoskeletal inflammation. The diagnosis was confirmed by neurological specialists, and the patient was treated with methylprednisolone, after which her symptoms gradually improved. Discussion: The differential diagnosis of shoulder pain is complicated due to the wide variety of conditions sharing similar symptoms. Accurate history recording and thorough physical examination are required to differentiate among conditions involving the central nerves, peripheral nerves, and nerve plexuses. Conclusion: Although the symptoms of Parsonage-Turner syndrome vary based on disease progression and the location of impairment, proper diagnosis of acute shoulder pain without central neurological symptoms can be achieved in rural areas via thorough examination.

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    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)

  8. PSYCHOSOCIAL EFFECTS OF 2 YEARS OF HUMAN GROWTH-HORMONE TREATMENT IN TURNER SYNDROME

    NARCIS (Netherlands)

    SLIJPER, FME; SINNEMA, G; AKKERHUIS, GW; BRUGMANBOEZEMAN, A; FEENSTRA, J; DENHARTOG, L; HEUVEL, F

    1993-01-01

    Thirty-eight girls with Turner syndrome were treated for 2 years with human growth hormone. Both parents and patients carried out assessments of the effects of treatment on various aspects of psychosocial functioning. The children used the Piers-Harris Self-Concept Scale and the Social Anxiety Scale

  9. Magnetic resonance imaging 4-D flow-based analysis of aortic hemodynamics in Turner syndrome.

    Science.gov (United States)

    Arnold, Raoul; Neu, Marie; Hirtler, Daniel; Gimpel, Charlotte; Markl, Michael; Geiger, Julia

    2017-04-01

    Cardiovascular surveillance is important in Turner syndrome because of the increased risk of aortic dilation and dissection with consecutively increased mortality. To compare 4-D flow MRI for the characterization of aortic 3-D flow patterns, dimensions and vessel wall parameters in pediatric patients with Turner syndrome and age-matched controls. We performed 4-D flow MRI measuring in vivo 3-D blood flow with coverage of the thoracic aorta in 25 patients with Turner syndrome and in 16 female healthy controls (age mean ± standard deviation were 16 ± 5 years and 17 ± 4 years, respectively). Blood flow was visualized by time-resolved 3-D path lines. Visual grading of aortic flow in terms of helices and vortices was performed by two independent observers. Quantitative analysis included measurement of aortic diameters, quantification of peak systolic wall shear stress, pulsatility index and oscillatory shear index at eight defined sites. Patients with Turner syndrome had significantly larger aortic diameters normalized to BSA, increased vortices in the ascending aorta and elevated helix flow in the ascending and descending aorta compared to controls (all PTurner patients compared to controls (p=0.02, p=0.002 and p=0.01 respectively). Four-dimensional flow MRI provides new insights into the altered aortic hemodynamics and wall shear stress that could have an impact on the development of aortic dissections.

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

    Science.gov (United States)

    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…

  11. DOES GROWTH-HORMONE TREATMENT OF PATIENTS WITH TURNERS SYNDROME CAUSE AN ABNORMAL BODY SHAPE

    NARCIS (Netherlands)

    GERVER, WJM; DRAYER, NM; VANES, A

    The effect of human growth hormone on the body shape of 51 patients with Turner's syndrome (aged 6-19 years) was evaluated. Biosynthetic growth hormone was given in a dose of 24 IU/m2 body surface/week for two years. Karyotype analysis on peripheral blood was performed. Patients older than 12 years

  12. [Clinical manifestation and cytogenetic analysis of 607 patients with Turner syndrome].

    Science.gov (United States)

    Zheng, Jiemei; Liu, Zhiying; Xia, Pei; Lai, Yi; Wei, Yangjun; Liu, Yanyan; Chen, Jiurong; Qin, Li; Xie, Liangyu; Wang, He

    2017-02-10

    To explore the correlation between cytogenetic findings and clinical manifestations of Turner syndrome. 607 cases of cytogenetically diagnosed Turner syndrome, including those with a major manifestation of Turner syndrome, were analyzed with conventional G-banding. Correlation between the karyotypes and clinical features were analyzed. Among the 607 cases, there were 154 cases with monosomy X (25.37%). Mosaicism monosomy X was found in 240 patients (39.54%), which included 194 (80.83%) with a low proportion of 45,X (3 ≤ the number of 45, X ≤5, while the normal cells ≥ 30). Structural X chromosome abnormalities were found in 173 patients (28.50%). A supernumerary marker chromosome was found in 40 cases (6.59%). Most patients with typical manifestations of Turner syndrome were under 11 years of age and whose karyotypes were mainly 45,X. The karyotype of patients between 11 and 18 years old was mainly 45,X, 46,X,i(X)(q10) and mos45,X/46,X,i(X)(q10), which all had primary amenorrhea in addition to the typical clinical manifestations. The karyotype of patients over 18 years of age were mainly mosaicism with a low proportion of 45,X, whom all had primary infertility. 53 patients had a history of pregnancy, which included 48 with non-structural abnormalities of X chromosome and 5 with abnormal structure of X chromosome. Generally, the higher proportion of cells with an abnormal karyotype, the more severe were the clinical symptoms and the earlier clinical recognition. Karyotyping analysis can provide guidance for the early diagnosis of Turner syndrome, especially those with a low proportion of 45,X.

  13. 28 gonadal dysgenesis, turner's syndrome and phenotype in the ...

    African Journals Online (AJOL)

    1971-01-09

    Jan 9, 1971 ... M. (1955): Brit. Med. J., 2, 709. 33. Turner, H. H. (1938): Endocrinology, 23, 566. 34. Varney, R. F., Kenyon, A. T. and Koch, F. C. (1942): J. Clin. Endocr., 2. 137. 35. Wilkins, L. and Fleischmann, W. (1944): Ibid., 'I, 357. 36. Wilton, E. (1969): S. Afr. J. Surg., 7, 45. 37. Zander, J. and Henning, H. D. in Overzier, ...

  14. Allometric considerations when assessing aortic aneurysms in Turner syndrome: Implications for activity recommendations and medical decision-making.

    Science.gov (United States)

    Corbitt, Holly; Maslen, Cheryl; Prakash, Siddharth; Morris, Shaine A; Silberbach, Michael

    2018-02-01

    In Turner syndrome, the potential to form thoracic aortic aneurysms requires routine patient monitoring. However, the short stature that typically occurs complicates the assessment of severity and risk because the relationship of body size to aortic dimensions is different in Turner syndrome compared to the general population. Three allometric formula have been proposed to adjust aortic dimensions, all employing body surface area: aortic size index, Turner syndrome-specific Z-scores, and Z-scores based on a general pediatric and young adult population. In order to understand the differences between these formula we evaluated the relationship between age and aortic size index and compared Turner syndrome-specific Z-scores and pediatric/young adult based Z-scores in a group of girls and women with Turner syndrome. Our results suggest that the aortic size index is highly age-dependent for those under 15 years; and that Turner-specific Z-scores are significantly lower than Z-scores referenced to the general population. Higher Z-scores derived from the general reference population could result in stigmatization, inappropriate restriction from sports, and increasing the risk of unneeded medical or operative treatments. We propose that when estimating aortic dissection risk clinicians use Turner syndrome-specific Z-score for those under fifteen years of age. © 2017 Wiley Periodicals, Inc.

  15. Magnetic resonance imaging 4-D flow-based analysis of aortic hemodynamics in Turner syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Arnold, Raoul [University Medical Center Heidelberg, Department of Congenital Heart Disease and Pediatric Cardiology, Heidelberg (Germany); Neu, Marie [University Medical Center, Department of Pediatric Hematology/Oncology/Hemostaseology, Mainz (Germany); Hirtler, Daniel [University of Freiburg, Department of Congenital Heart Defects and Pediatric Cardiology, Heart Center, Freiburg im Breisgau (Germany); Gimpel, Charlotte [Center for Pediatrics, Medical Center - University of Freiburg, Department of General Pediatrics, Adolescent Medicine and Neonatology, Freiburg im Breisgau (Germany); Markl, Michael [Northwestern University, Department of Radiology, Feinberg School of Medicine, Chicago, IL (United States); Northwestern University, Department of Biomedical Engineering, McCormick School of Engineering, Chicago, IL (United States); Geiger, Julia [Northwestern University, Department of Radiology, Feinberg School of Medicine, Chicago, IL (United States); University Children' s Hospital, Department of Radiology, Zuerich (Switzerland)

    2017-04-15

    Cardiovascular surveillance is important in Turner syndrome because of the increased risk of aortic dilation and dissection with consecutively increased mortality. To compare 4-D flow MRI for the characterization of aortic 3-D flow patterns, dimensions and vessel wall parameters in pediatric patients with Turner syndrome and age-matched controls. We performed 4-D flow MRI measuring in vivo 3-D blood flow with coverage of the thoracic aorta in 25 patients with Turner syndrome and in 16 female healthy controls (age mean ± standard deviation were 16 ± 5 years and 17 ± 4 years, respectively). Blood flow was visualized by time-resolved 3-D path lines. Visual grading of aortic flow in terms of helices and vortices was performed by two independent observers. Quantitative analysis included measurement of aortic diameters, quantification of peak systolic wall shear stress, pulsatility index and oscillatory shear index at eight defined sites. Patients with Turner syndrome had significantly larger aortic diameters normalized to BSA, increased vortices in the ascending aorta and elevated helix flow in the ascending and descending aorta compared to controls (all P<0.03). Patients with abnormal helical or vortical flow in the ascending aorta had significantly larger diameters of the ascending aorta (P<0.03). Peak systolic wall shear stress, pulsatility index and oscillatory shear index were significantly lower in Turner patients compared to controls (p=0.02, p=0.002 and p=0.01 respectively). Four-dimensional flow MRI provides new insights into the altered aortic hemodynamics and wall shear stress that could have an impact on the development of aortic dissections. (orig.)

  16. A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker

    Directory of Open Access Journals (Sweden)

    Roberto L. P. Mazzaschi

    2014-01-01

    Full Text Available 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.

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

    Science.gov (United States)

    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)

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

    Science.gov (United States)

    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.

  19. Social and medical determinants of quality of life and life satisfaction in women with Turner syndrome.

    Science.gov (United States)

    Jeż, Wacław; Tobiasz-Adamczyk, Beata; Brzyski, Piotr; Majkowicz, Mikołaj; Pankiewicz, Piotr; Irzyniec, Tomasz J

    2018-02-01

    Turner syndrome (TS) appears in women as a result of the lack of part or the whole of one of the X chromosomes. It is characterized by the occurrence of low height, hypogonadism, numerous developmental defects, and is often accompanied by psychological disturbances. Although the phenotype characteristics of women with TS are quite well documented, the knowledge of the impact of Turner syndrome on the satisfaction with life is still insufficient. The aim of our study was to assess the impact of TS on selected variables of quality of life, and hence also life satisfaction in women with this syndrome. The research was carried out in a group of 176 women with TS starting March 1995. The patients underwent anthropological and medical examinations, and their medical histories were taken using a questionnaire that included demographic and psychosocial items as well as issues related to selected variables of quality of life. In our research model, general life satisfaction was a dependent variable. The statistical analysis was conducted using the eta and Cramer's V correlation coefficients as well as a multidimensional logistic regression model. The main determinants of dissatisfaction with life in women with TS were short stature and feelings of loneliness and being handicapped. The determinants of life satisfaction in women with Turner syndrome were closely related to the private life of the study participants, in particular self-perception and feelings concerning their health status.

  20. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.

    Science.gov (United States)

    Gravholt, Claus H; Andersen, Niels H; Conway, Gerard S; Dekkers, Olaf M; Geffner, Mitchell E; Klein, Karen O; Lin, Angela E; Mauras, Nelly; Quigley, Charmian A; Rubin, Karen; Sandberg, David E; Sas, Theo C J; Silberbach, Michael; Söderström-Anttila, Viveca; Stochholm, Kirstine; van Alfen-van derVelden, Janielle A; Woelfle, Joachim; Backeljauw, Philippe F

    2017-09-01

    Turner syndrome affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted recently. These advances cover all specialty fields involved in the care of girls and women with TS. This paper is based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016. Prior to this meeting, five groups each addressed important areas in TS care: 1) diagnostic and genetic issues, 2) growth and development during childhood and adolescence, 3) congenital and acquired cardiovascular disease, 4) transition and adult care, and 5) other comorbidities and neurocognitive issues. These groups produced proposals for the present guidelines. Additionally, four pertinent questions were submitted for formal GRADE (Grading of Recommendations, Assessment, Development and Evaluation) evaluation with a separate systematic review of the literature. These four questions related to the efficacy and most optimal treatment of short stature, infertility, hypertension, and hormonal replacement therapy. The guidelines project was initiated by the European Society for Endocrinology and the Pediatric Endocrine Society, in collaboration with The European Society for Pediatric Endocrinology, The Endocrine Society, European Society of Human Reproduction and Embryology, The American Heart Association, The Society for Endocrinology, and the European Society of Cardiology. The guideline has been formally endorsed by the European Society for Endocrinology, the Pediatric Endocrine Society, the European Society for Pediatric Endocrinology, the European Society of Human Reproduction and Embryology and the Endocrine Society. Advocacy groups appointed representatives who participated in pre-meeting discussions and in the

  1. Review Article: Victor Turner, Liminality and Cultural Performance.

    OpenAIRE

    Bigger, Stephen

    2009-01-01

    Victor Witter Turner (1920 – 1983), working with his wife Edith Turner, was an anthropologist deeply concerned with ritual both in tribal communities and in the contemporary developed world. His early fieldwork in African villages in the 1950s was typical of the career development of field anthropologists at that time. He developed a special interest in rituals, seeing these as social drama in addition to the religious expression of the sacred. He drew on the work of Arnold van Gennep (1960, ...

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

    Science.gov (United States)

    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.

  3. Perturbed sympatho-vagal balance in Turner syndrome - relation to aortic dilation

    DEFF Research Database (Denmark)

    Trolle, Christian; Mortensen, Kristian Havmand; Andersen, Niels Holmark

    Objective: The risk of aortic dissection is 100 fold increased in Turner syndrome (TS). Increased blood pressure (BP) and heart rate is present as well as an increased risk of ischemic heart disease and diabetes. This study aimed to prospectively assess heart rate variability (HRV) in TS and its...... relation to aortic dimensions. Methods: Adults with TS (n=91, aged 37.4±10.4 years) recruited through the Danish National Society of Turner Syndrome Contact Group and an endocrine outpatient clinic were examined thrice (mean follow-up of 4.7±0.5 years). Healthy controls (n=64, aged 39.4±12.1 years) were...

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

    Directory of Open Access Journals (Sweden)

    Gioconda Manassero-Morales

    2016-01-01

    Full Text Available 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.

  5. Mondini deformity in a case of Turner syndrome. A radiological finding.

    Science.gov (United States)

    Bodet Agustí, Eduard; Galido Ortego, Xavier; Ghani Martínez, Fares; García González, Begoña; Borràs Perera, Montserrat; Seara Gil, Angel

    2012-01-01

    Turner syndrome (TS) is the human being's most frequent sex chromosome abnormality. Progressive sensorineural hearing loss is documented in more than 50% of the women affected by this syndrome. Although Mondini defect is the cochlear congenital malformation most frequently identified in other polymalformative syndromes, it has rarely been reported in TS. We describe the case of a 32-year-old woman with TS who presented progressive sensorineural hearing loss. The computed tomography of the ears showed bilateral Mondini deformity. Copyright © 2010 Elsevier España, S.L. All rights reserved.

  6. X-derived marker chromosome in patient with mosaic Turner syndrome and Dandy-Walker syndrome: a case report.

    Science.gov (United States)

    Telepova, Alena S; Romanenko, Svetlana A; Lemskaya, Natalya A; Maksimova, Yulia V; Shorina, Asia R; Yudkin, Dmitry V

    2017-01-01

    Small supernumerary marker chromosomes can be derived from autosomes and sex chromosomes and can accompany chromosome pathologies, such as Turner syndrome. Here, we present a case report of a patient with mosaic Turner syndrome and Dandy-Walker syndrome carrying a marker chromosome. We showed the presence of the marker chromosome in 33.8% of blood cells. FISH of the probe derived from the marker chromosome by microdissection revealed that it originated from the centromeric region of chromosome X. Additionally, we showed no telomeric sequences and no XIST sequence in the marker chromosome. This is the first report of these two syndromes accompanied by the presence of a marker chromosome. Marker chromosome was X-derived and originated from centromeric region. Patient has mild symptoms but there is no XIST gene in marker chromosome. CPG137. Registered 03 March 2017.

  7. Numerical Magnitude Processing Impairments in Genetic Syndromes: A Cross-Syndrome Comparison of Turner and 22Q11.2 Deletion Syndromes

    Science.gov (United States)

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

    2017-01-01

    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…

  8. Methionyl human growth hormone and oxandrolone in Turner syndrome: preliminary results of a prospective randomized trial.

    Science.gov (United States)

    Rosenfeld, R G; Hintz, R L; Johanson, A J; Brasel, J A; Burstein, S; Chernausek, S D; Clabots, T; Frane, J; Gotlin, R W; Kuntze, J

    1986-12-01

    Seventy girls with Turner syndrome, 4 to 12 years of age, were randomly assigned to receive either no treatment (control) or methionyl human growth hormone (0.125 mg/kg three times per week), oxandrolone (0.125 mg/kg/day), or combination hGH plus oxandrolone therapy. Baseline growth rates averaged 4.3 cm/yr, and all were within 2 SD of mean growth velocity for age in girls with Turner syndrome. Sixty-seven girls remained in the study for a minimum of 1 year. Growth rates and growth velocity (in standard deviations for age in girls with Turner syndrome) were control 3.8 cm/yr (-0.1 SD), hGH 6.6 cm/yr (+2.3 SD), oxandrolone 7.9 cm/yr (+3.7 SD), and combination therapy 9.8 cm/yr (+5.4 SD). Mean bone ages advanced 1.0 years (hGH), 1.3 years (oxandrolone), and 1.6 years (combination). However, median increments in height age/bone age (delta HA/delta BA) ratios ranged from 1.0 to 1.1 for treatment groups, compared with 0.8 for the controls. Predicted adult height by the method of Bayley-Pinneau increased 2.5 cm for hGH or oxandrolone alone, and 3.2 cm for combination treatment. These data indicate that both hGH and oxandrolone can significantly stimulate short-term skeletal growth in patients with Turner syndrome, and potentially increase final adult height.

  9. Gradually increasing ethinyl estradiol for Turner syndrome may produce good final height but not ideal BMD.

    Science.gov (United States)

    Hasegawa, Yukihiro; Ariyasu, Daisuke; Izawa, Masako; Igaki-Miyamoto, Junko; Fukuma, Mami; Hatano, Megumi; Yagi, Hiroko; Goto, Masahiro

    2017-02-27

    Estrogen replacement therapy in Turner syndrome should theoretically mimic the physiology of healthy girls. The objective of this study was to describe final height and bone mineral density (BMD) in a group of 17 Turner syndrome patients (group E) who started their ethinyl estradiol therapy with an ultra-low dosage (1-5 ng/kg/day) from 9.8-13.7 years. The subjects in group E had been treated with GH 0.35 mg/kg/week since the average age of 7.4 years. The 30 subjects in group L, one of the historical groups, were given comparable doses of GH, and conjugated estrogen 0.3125 mg/week ∼0.3125 mg/day was initiated at 12.2-18.7 years. The subjects in group S, the other historical group, were 21 patients who experienced breast development and menarche spontaneously. Final height (height gain Turner syndrome. The final height in group L was 148.5 ± 3.0 cm with a SD of 1.30 ± 0.55, which was significantly different from the values for group E. The volumetric BMD of group S (0.290 ± 0.026 g/cm 3 ) was significantly different from that of group L or E (0.262 or 0.262 g/cm 3 as a mean, respectively). This is the first study of patients with Turner syndrome where estrogen was administered initially in an ultra-low dose and then increased gradually. Our estrogen therapy in group E produced good final height but not ideal BMD.

  10. Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study).

    Science.gov (United States)

    Bucerzan, Simona; Miclea, Diana; Popp, Radu; Alkhzouz, Camelia; Lazea, Cecilia; Pop, Ioan Victor; Grigorescu-Sido, Paula

    2017-01-01

    Recent years have seen a shift in perspective on Turner syndrome, as it is no longer considered a significant disability due to therapeutic advances. The delay of diagnosis and the underdiagnosis are common in Turner syndrome, especially because of the great phenotypic variability and lack of firm diagnostic criteria. Our first aim was to assess the clinical and the cytogenetic characteristics and growth rate in growth hormone (GH)-treated patients as compared to those with spontaneous growth. The second aim was to analyze the Y chromosomal sequences. We analyzed 45 patients diagnosed with Turner syndrome in Genetic Pathology Centre of Cluj Emergency Children's Hospital. We carried out a study of the clinical features, the correlations between the karyotype and the phenotype, and we also made a research of Y chromosome sequences. The average age at diagnosis was 8.9±5.4 years. A significant association was observed between the number of external phenotypical abnormalities and internal malformations ( r =0.45), particularly the cardiovascular ones ( r =0.44). Patients treated with GH showed improvement in growth rate, with final stature significantly better than in untreated patients; benefits following treatment were greater if diagnosis was made before the age of 5 years. Thirteen percent of patients experienced spontaneous and complete puberty, whereas 30% experienced incomplete puberty. Patients with the 45,X genotype had a greater stature deficit and a higher incidence of cardiac malformations, compared with patients with 45,X/46,XX mosaic karyotype. Y chromosome sequences were found in only one patient, who subsequently underwent gonadectomy. The importance of this study resides, to the best of our knowledge, in the fact that the largest group of patients in Romania was analyzed and assessed. To draw firm conclusions on the most valuable clinical indicators for Turner syndrome diagnosis in clinical practice, studies on large groups of patients should be

  11. Comparison of Classical Cytogenetics Versus Interphase FISH in Diagnosis of Mosaic Form of Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Shohreh Shargh

    2010-11-01

    Full Text Available Background:Mosaic form of turner syndrome that represented by two or more  cell lines in an affected individual, often has limitation for detection with classical  cytogenetic methods. The present study was carried out to compare the efficiency of  interphase Fluorescence In Situ Hybridisation (FISH and cytogenetic techniques in  detection of mosaic form of turner syndrome.  Methods: All candidate samples for turner syndrome were surveyed with both interphase FISH using DXZ1 as a chromosome X specific probe and the GTG- banding methods. The chi square test was used and a P-value of less than 0.05 was considered as being significant.  Results: Asignificant difference was observed between results obtained from the  application of the two methods under study (P<0.05, indicating that the interphase  FISH is favourably compares to conventional cytogenetics in detection of mosaic  form of X chromosome aneuploidy, as an extended number of cells can be scored in a  limited time.  Conclusion: The results indicate that using the two techniques in parallel allow accurate differentiation between mosaicism and homogenous aneuploidy of X chromosome, and thus both numerical and structural aberrations of the X will be analyzed.

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

    Science.gov (United States)

    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.

  13. Association between the degree of mosaicism and the severity of syndrome in Turner mosaics and Klinefelter mosaics.

    Science.gov (United States)

    Sarkar, R; Marimuthu, K M

    1983-12-01

    This study, based on the investigations carried on 82 cases of Turners of which 50 of them were mosaics and 85 cases of Klinefelters of which 70 of them were mosaics, is an attempt to explain the vast range of clinical variations observed in cytogenetically established Turner mosaics (45,X/46,XX) and Klinefelter mosaics (47,XXY/46,XY) in the light of the degree of mosaicism present in them. It was observed that the severity of the syndrome in Turner mosaics and Klinefelter mosaics increased with the relative increase in the abnormal cell line population.

  14. Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study

    Directory of Open Access Journals (Sweden)

    Bucerzan S

    2017-05-01

    Full Text Available Simona Bucerzan,1 Diana Miclea,1,2 Radu Popp,2 Camelia Alkhzouz,1 Cecilia Lazea,1 Ioan Victor Pop,2 Paula Grigorescu-Sido1 1Emergency Hospital for Children, “Iuliu Hatieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania; 2Department of Molecular Sciences, “Iuliu Hatieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania Introduction: Recent years have seen a shift in perspective on Turner syndrome, as it is no longer considered a significant disability due to therapeutic advances. The delay of diagnosis and the underdiagnosis are common in Turner syndrome, especially because of the great phenotypic variability and lack of firm diagnostic criteria.Aim: Our first aim was to assess the clinical and the cytogenetic characteristics and growth rate in growth hormone (GH-treated patients as compared to those with spontaneous growth. The second aim was to analyze the Y chromosomal sequences.Materials and methods: We analyzed 45 patients diagnosed with Turner syndrome in Genetic Pathology Centre of Cluj Emergency Children’s Hospital. We carried out a study of the clinical features, the correlations between the karyotype and the phenotype, and we also made a research of Y chromosome sequences.Results: The average age at diagnosis was 8.9±5.4 years. A significant association was observed between the number of external phenotypical abnormalities and internal malformations (r=0.45, particularly the cardiovascular ones (r=0.44. Patients treated with GH showed improvement in growth rate, with final stature significantly better than in untreated patients; benefits following treatment were greater if diagnosis was made before the age of 5 years. Thirteen percent of patients experienced spontaneous and complete puberty, whereas 30% experienced incomplete puberty. Patients with the 45,X genotype had a greater stature deficit and a higher incidence of cardiac malformations, compared with patients with 45,X/46,XX mosaic karyotype. Y

  15. Visuospatial skills and their association with math performance in girls with fragile X or Turner syndrome.

    Science.gov (United States)

    Mazzocco, Michèle M M; Singh Bhatia, Neha; Lesniak-Karpiak, Katarzyna

    2006-04-01

    The present study was designed to assess object identification ("what") and location ("where") skills among girls with fragile X or Turner syndrome and girls with neither disorder. Participants completed standardized subtests of visual perception and tasks of visuospatial "what" and "where" memory. Girls with fragile X had average performance on most object identification tasks, yet 53% failed to accurately recreate the gestalt of a design during the "where" memory task. Fewer than 7% of girls in the Turner or comparison group made this error. Girls with Turner syndrome had lower scores and longer response times on object perception tasks and had poorer recall of location for internal features of the design on the "where" memory task, relative to girls in the comparison or fragile X group. When limiting analyses to IQ-matched samples, correlations between math and visual perception tasks emerged, but only for girls with fragile X. These results reflect important differences between two cognitive phenotypes and have implications for the role of visuospatial processing in early math performance.

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

    Science.gov (United States)

    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%; PTurner 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. © 2016 American Heart Association, Inc.

  17. Measured parental height in Turner syndrome-a valuable but underused diagnostic tool.

    Science.gov (United States)

    Ouarezki, Yasmine; Cizmecioglu, Filiz Mine; Mansour, Chourouk; Jones, Jeremy Huw; Gault, Emma Jane; Mason, Avril; Donaldson, Malcolm D C

    2018-02-01

    Early diagnosis of Turner syndrome (TS) is necessary to facilitate appropriate management, including growth promotion. Not all girls with TS have overt short stature, and comparison with parental height (Ht) is needed for appropriate evaluation. We examined both the prevalence and diagnostic sensitivity of measured parental Ht in a dedicated TS clinic between 1989 and 2013. Lower end of parental target range (LTR) was calculated as mid-parental Ht (correction factor 12.5 cm minus 8.5 cm) and converted to standard deviation scores (SDS) using UK 1990 data, then compared with patient Ht SDS at first accurate measurement aged > 1 year. Information was available in 172 girls of whom 142 (82.6%) were short at first measurement. However, both parents had been measured in only 94 girls (54.6%). In 92 of these girls age at measurement was 6.93 ± 3.9 years, Ht SDS vs LTR SDS - 2.63 ± 0.94 vs - 1.77 ± 0.81 (p Turner syndrome are short in relation to parental heights, with untreated final height approximately 20 cm below female population mean. • Measured parental height is more accurate than reported height. What is New: • In a dedicated Turner clinic, there was 85% sensitivity when comparing patient height standard deviation score at first accurate measurement beyond 1 year of age with the lower end of the parental target range standard deviation. • However, measured height in both parents had been recorded in only 54.6% of the Turner girls attending the clinic. This indicates the need to improve the quality of growth assessment in tertiary care.

  18. Cardiovascular and renal anomalies in Turner syndrome Anomalias cardiovasculares e renais na síndrome de Turner

    Directory of Open Access Journals (Sweden)

    Annelise Barreto Carvalho

    2010-01-01

    Full Text Available OBJECTIVE: To evaluate the frequency and type of cardiovascular (CV and renal/collecting system (R/CS abnormalities seen in a sample of patients with Turner Syndrome (TS and to verify the proportion of those anomalies detected only after diagnosis was established. METHODS: Retrospective study of 130 patients with TS diagnosed in an outpatient setting between 1989 and 2006. The mean age at diagnosis was 11.9 years. Data were obtained by personal history of CV and R/CS disorders and by results of echocardiogram and ultrasonography of the kidneys and collecting system performed after diagnosis. RESULTS: 25.6% of patients who underwent echocardiograms presented CV abnormalities. Among them, mitral regurgitation (21.4%, bicuspid aortic valve (19% and aortic coarctation (19% were the most frequent. R/CS anomalies were found in 29.3% of patients who underwent ultrasonography. Among them, duplication of the collecting system and hydronephrosis (25% each and horseshoe kidney (21.2% were the most frequent. In about 80% of cases there was no previous knowledge of these anomalies. CONCLUSION: The frequency of CV and R/CS abnormalities found in this study was similar to that of previous studies, but most were found in routine exams after TS diagnosis. Thus, early detection of associated anomalies depends on early detection of TS.OBJETIVO: Analisar a frequência e os tipos de anomalias cardiovasculares (CV e de anomalias renais ou de sistema coletor (R/SC em uma amostra de pacientes com síndrome de Turner (ST e verificar a proporção dessas anomalias que só foram detectadas após o estabelecimento do diagnóstico. MÉTODOS: Estudo retrospectivo de 130 pacientes com ST diagnosticadas em serviço ambulatorial entre 1989 e 2006. A média de idade ao diagnóstico foi 11,9 anos. Foram coletados dados sobre antecedentes pessoais de anomalias CV e R/SC e resultados de ecocardiograma e ultrassonografia de rins e vias urinárias realizados após o diagn

  19. A percepção da doença em portadoras da síndrome de Turner Turner syndrome: the patients' view

    Directory of Open Access Journals (Sweden)

    Lígia Z. C. Suzigan

    2004-08-01

    Full Text Available OBJETIVO: Identificar a percepção das pacientes com síndrome de Turner a respeito de sua condição. CASUÍSTICA E MÉTODO: Entrevistas individuais com 36 pacientes com síndrome de Turner entre 15 e 25 anos e mais de 2 anos de acompanhamento, abordando temas referentes ao impacto no momento do diagnóstico, compreensão a respeito da síndrome de Turner, seu impacto sobre a vida atual e expectativas de futuro. RESULTADOS: Apenas 31% compreenderam o diagnóstico de síndrome de Turner imediatamente, e o sentimento associado a esse momento foi freqüentemente neutro (47% ou de preocupação (33%. Cerca de 1/3 das pacientes não soube explicar a etiologia da síndrome de Turner (42%, não relacionou a ela os sintomas que apresenta (36% e/ou acredita haver cura (44%. Atualmente, embora a grande maioria declare que a síndrome de Turner não interfere em sua vida (67% e se considere feliz (78%, em mais da metade dos casos há evidências de dificuldades de interação social e de relacionamento amoroso, baixa auto-estima, insatisfação com a aparência física (em particular a baixa estatura e sofrimento com a questão da esterilidade. Suas expectativas de futuro estão predominantemente ligadas a trabalho e estudo; e mesmo estando com 19 anos, em média, uma em cada duas ainda espera crescer (53%. CONCLUSÃO: Além da abordagem médica da síndrome de Turner, é fundamental que o conhecimento das pacientes a respeito dessa síndrome e as questões referentes à esterilidade, baixa estatura, auto-estima e interações sociais sejam alvo de atenção especial e contínua a partir do momento do diagnóstico; a situação ideal seria a de atuação de um psicólogo juntamente com a equipe médica.OBJECTIVE: To identify how patients with Turner syndrome perceive their condition. METHODS: Thirty-six women with Turner syndrome, aged between 15 and 25 years and with over 2 years of medical follow-up, were individually interviewed about: the impact of

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

    Science.gov (United States)

    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. © 2016 UICC.

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

    Science.gov (United States)

    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…

  2. GH treatment to final height produces similar height gains in patients with SHOX deficiency and turner syndrome: Results of a multicenter trial

    NARCIS (Netherlands)

    W.F. Blum (Werner); J.L. Ross (J.); A.G. Zimmermann (Alan); C.A. Quigley (Charmian); C.J. Child (Christopher); G. Kalifa (Gabriel); C.L. Deal (Cheri Lynn); S.L.S. Drop (Stenvert); G. Rappold (G.); G. Cutler (Gordon)

    2013-01-01

    textabstractContext: Growth impairment in short stature homeobox-containing gene (SHOX) deficiency and Turner syndrome share a similar etiology. Because of the established effect of GH treatment on height in patients with Turner syndrome, we hypothesized that GH therapy would also stimulate growth

  3. Generation of an induced pluripotent stem cell line from chorionic villi of a Turner syndrome spontaneous abortion.

    Science.gov (United States)

    Parveen, Shagufta; Panicker, M M; Gupta, Pawan Kumar

    2017-03-01

    A major cause of spontaneous abortions is chromosomal abnormality of foetal cells. We report the generation of an induced pluripotent stem cell line from the fibroblasts isolated from chorionic villi of an early spontaneously aborted foetus with Turner syndrome. The Turner syndrome villus induced pluripotent stem cell line is transgene free, retains the original XO karyotype, expresses pluripotency markers and undergoes trilineage differentiation. This pluripotent stem cell model of Turner syndrome should serve as a tool to study the developmental abnormalities of foetus and placenta that lead to early embryo lethality and profound symptoms like infertility in 45 XO survivors. Copyright © 2016 The Authors. Published by Elsevier B.V. All rights reserved.

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

    Directory of Open Access Journals (Sweden)

    A. Araújo

    2008-05-01

    Full Text Available 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.

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

    Science.gov (United States)

    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 aortic valves (P 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

  6. Multiple cerebral cavernous malformations in a pediatric patient with Turner syndrome

    Directory of Open Access Journals (Sweden)

    Nicholas T. Gamboa, B.S.

    2017-12-01

    Full Text Available Turner syndrome (TS; 45,X0 is a relatively common chromosomal disorder that is associated with characteristic phenotypic stigmata: short stature, webbed neck, broad (“shield” chest with widely spaced nipples, cubitus valgus, ovarian dysgenesis (“streak ovary”, primary amenorrhea, renal anomalies, lymphedema of the hands or feet, and various vascular abnormalities. Abnormalities of the cardiovascular system are commonly reported in patient with TS, and vascular anomalies affecting various other organ systems are also frequently reported. To date, however, few reports of intracranial vascular malformations exist. The authors report the case of a patient with TS who was found to have multiple cerebral cavernous malformations on imaging.

  7. Cardiovascular assessment of patients with Ullrich-Turner's Syndrome on Doppler echocardiography and magnetic resonance imaging

    Directory of Open Access Journals (Sweden)

    Castro Ana Valéria Barros de

    2002-01-01

    Full Text Available OBJECTIVE: To assess the cardiovascular features of Ullrich-Turner's syndrome using echocardiography and magnetic resonance imaging, and to correlate them with the phenotype and karyotype of the patients. The diagnostic concordance between the 2 methods was also assessed. METHODS: Fifteen patients with the syndrome were assessed by echocardiography and magnetic resonance imaging (cardiac chambers, valves, and aorta. Their ages ranged from 10 to 28 (mean of 16.7 years. The karyotype was analyzed in 11 or 25 metaphases of peripheral blood lymphocytes, or both. RESULTS: The most common phenotypic changes were short stature and spontaneous absence of puberal development (100%; 1 patient had a cardiac murmur. The karyotypes detected were as follows: 45,X (n=7, mosaics (n=5, and deletions (n=3. No echocardiographic changes were observed. In regard to magnetic resonance imaging, coarctation and dilation of the aorta were found in 1 patient, and isolated dilation of the aorta was found in 4 patients. CONCLUSION: The frequencies of coarctation and dilation of the aorta detected on magnetic resonance imaging were similar to those reported in the literature (5.5% to 20%, and 6.3% to 29%, respectively. This confirmed the adjuvant role of magnetic resonance imaging to Doppler echocardiography for diagnosing cardiovascular alterations in patients with Ullrich-Turner's syndrome.

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

    Directory of Open Access Journals (Sweden)

    Wierzba Jolanta

    2012-06-01

    Full Text Available Abstract 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.

  9. Turner/Down mosaicism

    African Journals Online (AJOL)

    Klinefelter, Down/XXXI and TumerlPatau syndromes.2 The Down/Klinefelter combination is the most frequent double aneuploidy recognised.3. Turner/Down mosaicism usually occurs as a phenotypical. Down syndrome with cytogenetic ...

  10. Neoplasia in Turner syndrome. The importance of clinical and screening practices during follow-up.

    Science.gov (United States)

    Larizza, Daniela; Albanesi, Michela; De Silvestri, Annalisa; Accordino, Giulia; Brazzelli, Valeria; Maffè, Gabriella Carnevale; Calcaterra, Valeria

    2016-05-01

    Turmer syndrome (TS) patients show increased morbidity due to metabolic, autoimmune and cardiovascular disorders. A risk of neoplasia is also reported. Here, we review the prevalence of neoplasia in a cohort of Turner patients. We retrospectively evaluated 87 TS women. Follow-up included periodic ultrasound of the neck, abdominal and pelvic organs, dermatologic evaluation and fecal occult blood test. Karyotype was 45,X in 46 patients. During follow-up, 63 girls were treated with growth hormone, 65 with estro-progestin replacement therapy and 20 with L-thyroxine. Autoimmune diseases were present in 29 TS. A total of 17 neoplasms in 14 out of 87 patients were found. Six skin neoplasia, 3 central nervous system tumors, 3 gonadal neoplasia, 2 breast tumors, 1 hepatocarcinoma, 1 carcinoma of the pancreas and 1 follicular thyroid cancer were detected. Age at tumor diagnosis was higher in 45,X pts than in those with other karyotypes (p = 0.003). Adenomioma gallbladdder (AG) was detected in 15.3% of the patients, with a lower age in girls at diagnosis with an associated neoplasia in comparison with TS without tumors (p = 0.017). No correlation between genetic make up, treatment, associated autoimmune diseases and neoplastia was found. In our TS population an increased neoplasia prevalence was reported. A high prevalence of AG was also noted and it might be indicative of a predisposition to neoplasia. Further studies are needed to define the overall risk for neoplasia, and to determine the role of the loss of the X-chromosome and hormonal therapies. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  11. Benign Phyllodes Tumor Mimicking a Malignancy in a Turner Syndrome Woman with Hormone Replacement Therapy: A Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Woong Jae; Chong, Se Min; Pang, Jae Choon; Seo, Jae Seung; Byun, Jun Soo; Seok, Ju Won [Chung-Ang University Medical Center, Chung-Ang University College of Medicine, Seoul (Korea, Republic of); Shin, Hee Jung; Gong, Gyung Yub [Asan Medical Center, University of Ulsan College of Mdeicine, Seoul (Korea, Republic of)

    2010-12-15

    Phyllodes tumor of the breast is a relatively rare fibroepithelial tumor. Turner syndrome is a condition that affects approximately 50 per 100,000 females and includes total or partial absence of one X chromosome in all or part of the cells, reduced final height, absence of female sex hormone, and infertility. In this case report, we describe the first case of a benign phyllodes tumor mimicking a malignancy at breast US in a 26-year-old woman with Turner syndrome who had been undergoing hormone replacement therapy

  12. Improving self-esteem in women diagnosed with Turner syndrome: results of a pilot intervention.

    Science.gov (United States)

    Chadwick, Paul M; Smyth, Arlene; Liao, Lih-Mei

    2014-06-01

    To evaluate a brief intervention to improve the self esteem of women diagnosed with Turner syndrome (TS). Prospective observational study. Turner Syndrome Support Society, UK. 30 women aged 18-60 years. A 1-day psychology workshop targeting problems of self-esteem in women diagnosed with TS. The workshop drew on cognitive-behavioral therapy and narrative therapy skills and emphasized increased self-awareness of interpersonal difficulties and improved capacity for self-management. Rosenberg Self-esteem Scale (RSS); Hospital Anxiety and Depression Scale (HADS); bespoke user experiences questionnaire. All 30 women provided baseline data, 27/30 provided immediate post-intervention data and 22/30 provided follow-up data at 3 months. The intervention improved RSS and HADS scores at 3 months. Generic skills-based psychological interventions have the potential to be adapted to provide brief and low-cost interventions to improve self-esteem and reduce psychological distress in women diagnosed with TS. Copyright © 2014 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  13. Prolonged QT interval and cardiac arrest after a single dose of amiodarone in a woman with Turner's syndrome

    DEFF Research Database (Denmark)

    Nielsen, Dorte Guldbrand; Nielsen, Jens Cosedis; Trolle, Christian

    2017-01-01

    Low-dose QT-prolonging drugs may have detrimental effects on women with Turner's syndrome. Preventive measures would be to use potential QT-prolonging drugs with precaution and ensure that both before and during treatment, ECGs are evaluated and drug treatment stopped if the QT interval increases....

  14. Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response

    NARCIS (Netherlands)

    Hughes, Ian P.; Choong, Catherine S.; Harris, Mark; Ambler, Geoffrey R.; Cutfield, Wayne S.; Hofman, Paul L.; Cowell, Chris T.; Werther, George; Cotterill, Andrew; Davies, Peter S. W.

    P>Objective To investigate response to growth hormone (GH) in the first, second and third years of treatment in the total clinical cohort of Turner syndrome (TS) patients in Australia. Context Short stature is the most common clinical manifestation of TS. GH treatment improves growth. Design

  15. Neocentric X-chromosome in a girl with Turner-like syndrome

    Directory of Open Access Journals (Sweden)

    Hemmat Morteza

    2012-06-01

    Full Text Available Abstract Background Neocentromeres are rare human chromosomal aberrations in which a new centromere has formed in a previously non-centromeric location. We report the finding of a structurally abnormal X chromosome with a neocentromere in a 15-year-old girl with clinical features suggestive of Turner syndrome, including short stature and primary amenorrhea. Result G-banded chromosome analysis revealed a mosaic female karyotype involving two abnormal cell lines. One cell line (84% of analyzed metaphases had a structurally abnormal X chromosome (duplication of the long arm and deletion of the short arm and a normal X chromosome. The other cell line (16% of cells exhibited monosomy X. C-banding studies were negative for the abnormal X chromosome. FISH analysis revealed lack of hybridization of the abnormal X chromosome with both the X centromere-specific probe and the “all human centromeres” probe, a pattern consistent with lack of the X chromosome endogenous centromere. A FISH study using an XIST gene probe revealed the presence of two XIST genes, one on each long arm of the iso(Xq, required for inactivation of the abnormal X chromosome. R-banding also demonstrated inactivation of the abnormal X chromosome. An assay for centromeric protein C (CENP-C was positive on both the normal and the abnormal X chromosomes. The position of CENP-C in the abnormal X chromosome defined a neocentromere, which explains its mitotic stability. The karyotype is thus designated as 46,X,neo(X(qter- > q12::q12- > q21.2- > neo- > q21.2- > qter[42]/45,X[8], which is consistent with stigmata of Turner syndrome. The mother of this patient has a normal karyotype; however, the father was not available for study. Conclusion To our knowledge, this is the first case of mosaic Turner syndrome involving an analphoid iso(Xq chromosome with a proven neocentromere among 90 previously described cases with a proven neocentromere.

  16. Turner Syndrome

    Science.gov (United States)

    ... a Program Officer Forms Clinical Research Newsroom News Digital Media Join NICHD Listservs About NICHD Organization History Accomplishments Leadership & Other Staff Profiles Budget & Appropriations Advisory Groups Jobs ...

  17. Turner syndrome

    Science.gov (United States)

    ... 2 X chromosomes. Causes The typical amount of human chromosomes is 46. Chromosomes contain all of your genes and DNA, the building blocks of the body. Two of these chromosomes, the sex chromosomes, determine if you become a boy or a girl. Females typically have 2 of the same sex chromosomes, ...

  18. Turner Syndrome

    Science.gov (United States)

    ... Failure to begin sexual changes expected during puberty Sexual development that "stalls" during teenage years Early end to ... doctor if you have concerns about physical or sexual development. Causes Most people are born with two sex ...

  19. Mathematical Learning Disabilities in Children with 22q11.2 Deletion Syndrome: A Review

    Science.gov (United States)

    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…

  20. MR imaging of peripheral nervous system involvement: Parsonage-Turner syndrome.

    Science.gov (United States)

    Zara, Gabriella; Gasparotti, Roberto; Manara, Renzo

    2012-04-15

    A 55-year-old woman complained of right scapular pain, like burning, radiating down his right arm and numbness in the first three fingers of the hand. Neurologic examination showed a slight deficit of the right brachial triceps muscle. Neurophysiological assessment showed a mild involvement of the seventh right spinal root (C7). Conventional MR imaging of the cervical spine showed mild disc protrusion at level C5-C6 without spinal root compression. High resolution MR neurography with multiplanar reconstruction along the course of the right brachial plexus showed a mild increase in signal intensity and thickening of the C7 root, middle trunk and posterior cord, consistent with Parsonage-Turner Syndrome. STIR images showed increased signal intensity in the right infraspinatus muscle innervated by the suprascapular nerve. In our case, sensitivity and specificity of the new MR sequences are higher than the clinical and neurophysiological evaluations. Copyright © 2011 Elsevier B.V. All rights reserved.

  1. Winging of the scapula diagnosed as Parsonage-Turner syndrome: a case report.

    Science.gov (United States)

    Carroll, Christine; Bass, Bill

    2017-01-01

    A 24-year-old active duty female Soldier complained of right shoulder burning, stinging, electrical shock-like pain with radiation to the right hand after completing a ruck march. She also complained of swelling and feelings of her cold right hand. Examination showed a deficit in the deltoid, upper trapezius, supraspinatus, and also right winging of the scapula. She also exhibited weakness to right arm, weak right hand grip, and decreased sensation over the dorsal right hand. The right hand was also noticed to be colder to touch than the left one. She had tenderness to palpation over right paracervical muscles from C3 to C7. A previous magnetic resonance arthrogram of the right shoulder revealed no findings. The cervical magnetic resonance imagery showed mild disc protrusion at C5-C6 without spinal cord impingement. Based on the history and the physical findings, the patient was diagnosed with Parsonage-Turner syndrome.

  2. Investigation of inflicted injury in a young girl reveals mild haemophilia A and Turner's syndrome.

    Science.gov (United States)

    Williams, V K; Suppiah, R; Coppin, B; Nicholls, C M; Simsek, A; McGregor, L K

    2012-02-01

    A 2-year-old girl presented to casualty with a right knee effusion after apparently minor trauma. Inflicted injury was suspected and full forensic coagulation studies were performed which revealed a mild deficiency of factor VIII. Screening of the exons and intron/exon boundaries of F8 gene indicated that the child appeared to be homozygous for the missense mutation c.5123G>A (p.Arg1708His) in exon 14 of the F8 gene. This mutation has been reported to be associated with mild haemophilia A. The possibility of hemizygosity had been masked by the test kit employed but referral to the genetics service and subsequent array CGH resulted in a diagnosis of Turner syndrome. © 2011 Blackwell Publishing Ltd.

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

    Science.gov (United States)

    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.

  4. Effect of discontinuation of long-term growth hormone treatment on carbohydrate metabolism and risk factors for cardiovascular disease in girls with Turner syndrome

    NARCIS (Netherlands)

    Y.K. van Pareren (Yvonne); S.M.P.F. de Muinck Keizer-Schrama (Sabine); Th. Stijnen (Theo); T.C.J. Sas (Theo); S.L.S. Drop (Stenvert)

    2002-01-01

    textabstractGH treatment increases insulin levels in girls with Turner syndrome (TS), who are already predisposed to develop diabetes mellitus and other risk factors for developing cardiovascular disease. Therefore, in the present study, we investigated carbohydrate metabolism and

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

    Science.gov (United States)

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

    2015-04-01

    Noonan syndrome (NS) and Turner syndrome (TS) are associated with cognitive problems and difficulties in affective information processing. While both phenotypes include short stature, facial dysmorphisms, and a webbed neck, genetic etiology and neuropsychological phenotype differ significantly. The present study examines putative differences in affective information processing and social assertiveness between adult women with NS and TS. Twenty-six women with NS, 40 women with TS, and 40 female controls were matched on age and intelligence, and subsequently compared on (1) alexithymia, measured by the Bermond-Vorst Alexithymia Questionnaire, (2) emotion perception, evaluated by the Emotion Recognition Task, and (3) social assertiveness and social discomfort, assessed by the Scale for Interpersonal Behavior. Women with TS showed higher levels of alexithymia than women with NS and controls (P-values social assertiveness and the level of social discomfort. Women with NS and TS demonstrated different patterns of impairment in affective information processing, in terms of alexithymia and emotion perception. The present findings suggest neuropsychological phenotyping to be helpful for the diagnosis of specific cognitive-affective deficits in genetic syndromes, for the enhancement of genetic counseling, and for the development of personalized treatment plans. © 2015 Wiley Periodicals, Inc.

  6. Risk of Malignancy and Need for Surgery in Pediatric Patients with Morris or Y-chromosome Turner Syndrome: A Multicenter Survey.

    Science.gov (United States)

    Esposito, Ciro; Escolino, Maria; Bagnara, Vincenzo; Eckoldt-Wolke, Felicitas; Baglaj, Maciej; Saxena, Amulya; Patkowski, Dariusz; Schier, Felix; Settimi, Alessandro; Martelli, Helene; Savanelli, Antonio

    2015-10-01

    The management of intersex patients with Y-chromosome Turner or Morris syndrome remains a challenge. We report our experience with a multicenter European survey. We collected the data on 18 patients (mean age 10.2 years, range 2-17 years) with Morris (10 patients) or Turner (8 patients) syndrome harboring the Y chromosome who were treated in 1 of 6 European centers of pediatric surgery between 1997 and 2013. All patients were evaluated by use of a multidisciplinary diagnostic protocol. All patients received a bilateral gonadectomy via laparoscopy; only 1 center performed ovarian cryopreservation. Seven patients received a concomitant genitoplasty. Operative notes and histology were reviewed for details. No conversions to laparotomy and no complications were recorded. For the patients receiving only the gonadectomy, the length of hospital stay was 24-48 hours, whereas for the patients receiving an associated genitoplasty, it was 6-10 days. Specimens were negative for tumors in 83.3% of cases, whereas in 3 patients (16.6%), benign abnormalities (Sertoli cell hyperplasia in 1 patient and ovotestis in 2 patients) were recorded. A malignant tumor was not recorded in our series. If the risk of malignancy is considered as the main indication for surgery in case of Turner or Morris syndrome, on the basis of our study, this indication should be reevaluated. However, based on the non-negligible rate of benign abnormalities reported in our series (16.6%), the performance of cryopreservation to preserve fertility and the possibility of performing genitoplasty during the same anesthetic procedure represent additional valid indications for surgery. Copyright © 2015 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  7. Manifestações clínicas e fonoaudiológicas na Síndrome de Turner: estudo bibliográfico Clinical and speech, hearing and language pathology manifestations on Turner Syndrome: bibliographical study

    Directory of Open Access Journals (Sweden)

    Suhamy Aline Mandelli

    2012-02-01

    Full Text Available TEMA: síndrome genética e achados fonoaudiológicos. OBJETIVO: descrever as manifestações clínicas e fonoaudiológicas em indivíduos com a Síndrome de Turner CONCLUSÃO: foram levantados 23 artigos sobre a Síndrome de Turner dos quais 7 discorriam sobre a audição e suas alterações nesses indivíduos, 6 sobre linguagem receptiva e/ou expressiva e praxia, 5 sobre aspectos psicológicos e cognitivos além de 28 artigos referentes às manifestações clínicas em geral. Por meio do levantamento bibliográfico pode-se observar que as manifestações fonoaudiológicas na Síndrome de Turner são pouco estudadas e, dentro da fonoaudiologia as manifestações audiológicas como perda de audição e otites são as mais estudadas, ao contrário dos aspectos práxicos e de recepção/ expressão da linguagem.BACKGROUND: genetic syndrome and Speech, Hearing and Language Pathology findings. PURPOSE: to describe the clinical and speech, hearing and language manifestations in subjects with Turner syndrome. CONCLUSION: twenty-three articles on Turner' syndrome were collected, of which 7 described hearing and its alterations in these subjects, 6 described the receptive and/or expressive language and praxis, 5 described the psychological and cognitive aspects, besides those, 28 articles referred to the clinical manifestations. Through the literature research it was observed that speech, hearing and language manifestations of Turner syndrome are little studied and, within Speech, Hearing and Language Pathology, hearing manifestations such as hearing loss and ear infections are the most studied, unlike the issues of praxis and language reception/expression.

  8. Barriers in communication and available resources to facilitate conversation about infertility with girls diagnosed with Turner syndrome.

    Science.gov (United States)

    King, Jessica E; Plamondon, Jenna; Counts, Debra; Laney, Dawn; Dixon, Shannan DeLany

    2016-02-01

    Delayed discussion about infertility with individuals affected by Turner syndrome (TS) has been found to result in psychological and social harm. The aim of this study was to identify barriers experienced when discussing infertility and determine resource types that may facilitate this conversation. An electronic survey, given to caregivers of girls with TS diagnosed at barriers in having the conversation. Although most individuals did not use resources to facilitate the conversation, they did express interest in additional resources.

  9. RESULTS OF LONG-TERM THERAPY WITH GROWTH-HORMONE IN 2 DOSE REGIMENS IN TURNER SYNDROME

    NARCIS (Netherlands)

    NIENHUIS, HE; RONGENWESTERLAKEN, C; WIT, JM; OTTEN, BJ; KEIZERSCHRAMA, SMPFD; DRAYER, NM; DELEMARREVANDEWAAL, HA; VULSMA, T; OOSTDIJK, W; WAELKENS, JJJ

    1993-01-01

    Girls with Turner syndrome were divided according to age (group A 6-12 years, and group B 12-19 years) and human growth hormone (GH) dose regimen (A1 and B1, three injections/week; A2 and B2, six injections/week). All groups responded to GH, 24 IU/M2/week, with an increase in height velocity, though

  10. GH treatment to final height produces similar height gains in patients with SHOX deficiency and Turner syndrome: results of a multicenter trial.

    Science.gov (United States)

    Blum, Werner F; Ross, Judith L; Zimmermann, Alan G; Quigley, Charmian A; Child, Christopher J; Kalifa, Gabriel; Deal, Cheri; Drop, Stenvert L S; Rappold, Gudrun; Cutler, Gordon B

    2013-08-01

    Growth impairment in short stature homeobox-containing gene (SHOX) deficiency and Turner syndrome share a similar etiology. Because of the established effect of GH treatment on height in patients with Turner syndrome, we hypothesized that GH therapy would also stimulate growth in patients with SHOX deficiency. Our objectives were to evaluate long-term efficacy of GH treatment in short patients with SHOX deficiency and to compare the effect on final (adult) height (FH) in patients with SHOX deficiency and Turner syndrome. A prospective, multinational, open-label, randomized 3-arm study consisting of a 2-year control period and a subsequent extension period to FH. The treatment groups were 1) SHOX-D-C/GH (untreated during the control period, GH-treated during the extension), 2) SHOX-D-GH/GH, and 3) Turner-GH/GH (GH-treated during both study periods). Short-statured prepubertal patients with genetically confirmed SHOX deficiency (n = 49) or Turner syndrome (n = 24) who participated in the extension. Depending on the study arm, patients received a daily sc injection of 0.05 mg/kg recombinant human GH from start of the study or start of the extension until attainment of FH or study closure. Height SD score gain from start of GH treatment to FH was similar between the combined SHOX-deficient groups (n = 28, 1.34 ± 0.18 [least-squares mean ± SE]) and the Turner group (n = 19, 1.32 ± 0.22). In this FH population, 57% of the patients with SHOX deficiency and 32% of the patients with Turner syndrome achieved a FH greater than -2 SD score. GH treatment in short children with SHOX deficiency showed similar long-term efficacy as seen in girls with Turner syndrome.

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

    Directory of Open Access Journals (Sweden)

    Pedersen Erik M

    2011-04-01

    Full Text Available Abstract 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 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.

  12. Parsonage-Turner Syndrome: A Case of Idiopathic Upper Extremity Paresis Following Middle Cranial Fossa Resection of a Vestibular Schwannoma.

    Science.gov (United States)

    Prueter, James; Stevens, Shawn M; Andaluz, Norberto; Samy, Ravi N

    2016-09-01

    In this patient report, Parsonage-Turner syndrome (acute brachial neuropathy) developed in our patient 1 day after resection of a vestibular schwannoma by a middle cranial fossa approach. Aiming to increase awareness of this rare disorder among neurotologists, we describe differential diagnoses, work-up, and management strategies. A 67-year-old man treated for vestibular schwannoma at a single tertiary referral center. Surgery for vestibular schwannoma, electromyography for confirmation of diagnosis, and physical therapy. After ruling out postoperative complications by intracranial imaging and physical examination, electromyography was confirmatory of the suspected diagnosis, Parsonage-Turner syndrome; steroids were not indicated. With physical therapy as treatment, our patient is experiencing gradual recovery of all neurologic deficits, including gross motor function. As a rare condition reported only sporadically in the orthopedic and neurology literature, our patient with Parsonage-Turner syndrome represents (to our knowledge) the first within neurotology literature. This rare, idiopathic disease process is usually self-limiting, and may mimic cerebral-vascular accident or injury from surgical positioning. Its presentation is one of limited motor and sensory neuropathies of the brachial plexus distribution.

  13. Síndrome de Parsonage-Turner: relato de caso em paciente HIV soropositivo Parsonage-Turner Syndrome: case report of a HIV seropositive patient

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    Saulo Gomes de Oliveira

    2010-01-01

    Full Text Available A síndrome de Parsonage-Turner é uma doença rara que acomete a musculatura da cintura escapular levando à hipotrofia muscular e grande déficit motor. A etiologia é indeterminada; acredita-se que existam fatores infecciosos e autoimunes envolvidos. O diagnóstico é de exceção, e os principais diagnósticos diferenciais são hérnias discais cervicais, lesões do manguito rotador e doenças reumáticas. Na investigação diagnóstica realizamos exames laboratoriais, radiografias e ressonância magnética dos ombros e da coluna cervical com destaque para a eletroneuromiografia auxiliando no diagnóstico definitivo. Por se tratar de uma doença raramente associada à soropositividade do vírus HIV e pela importância do diagnóstico precoce para o melhor tratamento destes pacientes é que relatamos este caso.The Parsonage-Turner Syndrome is a rare disease that affects the muscles of the scapular girdle, leading to muscular atrophy and a large motor deficit. The etiology is unknown, 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 research, we conducted laboratory tests, radiographs and MRI of the shoulder and cervical spine, with particular reference to electroneuromyography to help generate 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.

  14. Feto portador de síndrome de turner e tetralogia de fallot associadas à elevação de alfafetoproteína materna Fetal turner syndrome and tetralogy of fallot associated with elevated maternal serum alpha-fetoprotein levels

    Directory of Open Access Journals (Sweden)

    Eduardo Vieira Neto

    1998-06-01

    developed, requiring corticosteroid therapy and premature cesarean section at the 34th week of gestation. The female newborn was transferred to a neonatal ICU and tetralogy of Fallot and Turner syndrome were diagnosed. This case prompted the authors to review the literature on maternal serum biochemical markers in Turner syndrome and congenital heart defects and to propose a protocol for unexplained increased MSAFP.

  15. The knee alignment and the foot arch in patients with Turner syndrome.

    Science.gov (United States)

    Trzcińska, Dorota; Olszewska, Elżbieta; Wiśniewski, Andrzej; Milde, Katarzyna; Madej, Marcin

    2011-01-01

    It is established that patients with Turner syndrome (TS) have numerous defects of the skeletal system, including in the lower extremities structure. However, there are not enough studies in the literature about knee alignment and foot arches in girls and women with TS. Assessment of knees and feet in girls and women with TS. Sixty-two girls and women with TS were examined. The mean chronological age of the patients was 15.61±5.27 years, ranging from 6.36 to 27.04-years-old. All patients underwent physical examinations of their knees and feet. Additionally, almost 70% (n=42) underwent plantographic examinations and measurement of their heel angle and Clarke's angle. The formation of the foot in patients with TS was related to the reference values developed on the basis of studies of healthy girls (n=92). In women whose knee conditions were assessed only on the basis of a physical examination, a drawer test was performed each time to assess the stability of the knee ligament systems. In over 60% of patients with TS, incorrect knee alignment, primarily in the form of genu valgum (knock-knee), was diagnosed. At the same time, 60% of the patients tested only in physical examinations were diagnosed with knee ligament instabilities (positive drawer test). Physical examinations showing foot arch malformation - in equal proportion splay-foot and low-arched - were found in almost two-thirds of women with TS. However, on the basis of plantography, abnormalities in the longitudinal arch of the foot were diagnosed in 60% of patients with TS, and abnormalities in the transverse arch of the foot were diagnosed in 80% of patients with TS. In patients with TS, the occurrence of the following is characteristic: 1. Genu valgum of knees and heels; 2. Frequent cases of abnormally formed longitudinal and transverse arches of the foot, with the longitudinal arch of the foot usually being reduced, while the transverse arch is excessively elevated; 3. Asymmetry involving a frequent

  16. Oocyte cryopreservation for fertility preservation in postpubertal female children at risk for premature ovarian failure due to accelerated follicle loss in Turner syndrome or cancer treatments.

    Science.gov (United States)

    Oktay, K; Bedoschi, G

    2014-12-01

    To preliminarily study the feasibility of oocyte cryopreservation in postpubertal girls aged between 13 and 15 years who were at risk for premature ovarian failure due to the accelerated follicle loss associated with Turner syndrome or cancer treatments. Retrospective cohort and review of literature. Academic fertility preservation unit. Three girls diagnosed with Turner syndrome, 1 girl diagnosed with germ-cell tumor. and 1 girl diagnosed with lymphoblastic leukemia. Assessment of ovarian reserve, ovarian stimulation, oocyte retrieval, in vitro maturation, and mature oocyte cryopreservation. Response to ovarian stimulation, number of mature oocytes cryopreserved and complications, if any. Mean anti-müllerian hormone, baseline follical stimulating hormone, estradiol, and antral follicle counts were 1.30 ± 0.39, 6.08 ± 2.63, 41.39 ± 24.68, 8.0 ± 3.2; respectively. In Turner girls the ovarian reserve assessment indicated already diminished ovarian reserve. Ovarian stimulation and oocyte cryopreservation was successfully performed in all female children referred for fertility preservation. A range of 4-11 mature oocytes (mean 8.1 ± 3.4) was cryopreserved without any complications. All girls tolerated the procedure well. Oocyte cryopreservation is a feasible technique in selected female children at risk for premature ovarian failure. Further studies would be beneficial to test the success of oocyte cryopreservation in young girls. Copyright © 2014 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  17. Facial markers in second- and third-trimester fetuses with trisomy 18 or 13, triploidy or Turner syndrome.

    Science.gov (United States)

    Kagan, K O; Sonek, J; Berg, X; Berg, C; Mallmann, M; Abele, H; Hoopmann, M; Geipel, A

    2015-07-01

    To examine the effectiveness of nasal bone (NB) evaluation (including NB length (NBL)), prenasal thickness (PT) measurement, the PT:NBL ratio and the prefrontal space ratio (PFSR) in the identification of fetuses with trisomy 18 or 13, triploidy or Turner syndrome. This was a retrospective study using stored midsagittal two-dimensional images of the facial profile of fetuses with trisomy 18 or 13, triploidy or Turner syndrome in the second and third trimesters. For images of acceptable quality, measurements were obtained of NBL (where NB was present), PT, the PT:NBL ratio and PFSR, and these measurements were compared with previously published normal ranges. The search of databases identified 189 fetuses that met the study criteria: 132 (69.8%) with trisomy 18, 40 (21.2%) with trisomy 13, 10 (5.3%) with triploidy and seven (3.7%) with Turner syndrome. The NB was either absent or its measurement was below the 5(th) centile in 67 (50.8%), 20 (50.0%), five (50.0%) and two (28.6%) of the fetuses with trisomy 18, trisomy 13, triploidy and Turner syndrome, respectively. The PT measurement was above the 95(th) centile in 24 (18.2%), six (15.0%), one (10.0%) and one (14.3%) of the affected fetuses, respectively. The PFSR was abnormal in 72 (54.5%), 29 (72.5%), seven (70%) and four (57.1%) of the cases and the PT:NBL ratio was above the 95(th) centile or the nasal bone was absent in 72 (54.5%), 20 (50.0%), six (60.0%) and four (57.1%) cases, respectively. Although each of the facial markers considered provides some useful information in screening for trisomy 18, trisomy 13, triploidy and Turner syndrome, the performance of none of the markers appears to be as good as that in screening for trisomy 21. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.

  18. Body mass index (BMI) in Turner Syndrome before and during growth hormone (GH) therapy.

    Science.gov (United States)

    Blackett, P R; Rundle, A C; Frane, J; Blethen, S L

    2000-02-01

    To study whether body mass index (BMI) is different in girls with Turner syndrome (TS) compared to normal girls, and whether BMI in TS is affected by growth hormone (GH) treatment. A retrospective cross-sectional study. 2468 girls with TS enrolled in the National Cooperative Group Study (NCGS), a collaborative surveillance study for assessing GH-treated children. BMI and BMI standard deviation score (BMI SDS) at baseline and during GH treatment were computed from height and weight data. BMI in TS patients increases with age as expected. However, BMI SDS increased starting at about age 9 y. A similar pattern of increase in BMI SDS was observed after each year of GH treatment for up to 4 y, but GH treatment did not change the magnitude of increase. BMI and BMI SDS curves before and during GH treatment were essentially superimposable. These findings suggest that mechanisms specific for TS are responsible for the age-related increase in BMI SDS. This increase was unaffected by GH treatment.

  19. Loss of smell but not taste in adult women with Turner's syndrome and other congenital hypogonadisms.

    Science.gov (United States)

    Ros, Cristina; Alobid, Isam; Centellas, Silvia; Balasch, Juan; Mullol, Joaquim; Castelo-Branco, Camil

    2012-11-01

    To assess the impact of Turner's syndrome (TS) and other congenital hypogonadisms (OCH) on the sense of smell and taste. An analytical study of three independent cohorts was designed: patients affected by TS, OCH, and a control group of healthy women taking contraception. Gynaecological Endocrinology Unit and Smell Clinic in Rhinology Unit of Hospital Clinic of Barcelona. Thirty TS patients between 20 and 50 years of age receiving hormone replacement treatment (HT) were included as the exposed cohort; fourteen age-matched women with OCH taking HT were recruited; forty-three age-matched healthy controls receiving hormone contraception treatment were selected as the control group. This group was matched with an historical cohort of forty healthy women without contraception, used to validate BAST-24 in Hospital Clinic of Barcelona. Clinical history, presence of nasal symptoms, general physical examination, nasal endoscopy, and Barcelona Smell Test-24 (BAST-24) and gustometry were carried out on all patients. TS physical dysmorphology features, intensity of nasal symptoms and signs of nasal obstruction were collected. BAST-24 test included 24 odours to assess both sensory (detection, memory and forced choice) and sensitivity (intensity, irritability, freshness and pleasantness) odour characteristics, as well as 4 tastes to evaluate taste domains (detection and forced choice). Healthy women taking hormone contraception felt odours with more intensity (p=0.002) and less irritability (psmell memory (psmell but not of taste, compared to OCH and healthy controls taking contraception. Smell sensitivity was not affected. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  20. New approach to phenotypic variability and karyotype-phenotype correlation in Turner syndrome.

    Science.gov (United States)

    Miguel-Neto, Jamil; Carvalho, Annelise B; Marques-de-Faria, Antonia Paula; Guerra-Júnior, Gil; Maciel-Guerra, Andréa T

    2016-04-01

    Phenotypic variability of Turner syndrome (TS) challenges clinicians, and undiagnosed mosaicism may lead to conflicting results of karyotype-phenotype correlations. This study assessed the extent of phenotypic variability and investigated the presence of karyotype-phenotype correlations. The sample comprised 80 patients with ≥50 cells analyzed in karyotype. Twenty were 45,X/46,X,+mar; three groups of 20 patients were constructed by matching those girls with the nearest-aged patient with 45,X, 45,X/46,XX and 45,X/46,X,i(Xq) or 46,X,i(Xq) karyotype. Data were obtained on height z-score, dysmorphic features, echocardiogram and urinary system sonography. The number of dysmorphic features ranged from one to 16 and was not correlated to age at diagnosis or height. The groups did not differ in height, number of dysmorphic features, cardiovascular and urinary system anomalies and frequency of any specific feature, except for short fourth metacarpal. Wide phenotypical variability of TS may be objectively described and its clinical picture is not correlated to karyotype.

  1. High levels of education and employment among women with Turner syndrome.

    Science.gov (United States)

    Gould, Harley N; Bakalov, Vladimir K; Tankersley, Carolyn; Bondy, Carolyn A

    2013-03-01

    Turner Syndrome (TS) is due to X chromosome monosomy and affects ~1 per 2500 females at birth. The major features are short stature and primary ovarian failure. Short stature and monosomy for a maternal X chromosome have been implicated in impaired functionality in adult life; however, data on adult outcomes in TS are limited. In this study we evaluated the influence of adult height and parental origin of the single X chromosome on education, employment, and marital outcomes among women with TS. This was a cross-sectional study of 240 women (25-67 years old) with TS participating in an intramural National Institutes of Health (NIH) study. Parental origin of the single X chromosome was determined by genotyping proband and parental genomic DNA. Information on education, employment, and family status was self reported. Normative data was obtained from the U.S. Bureaus of Census and Labor and Statistics. Seventy percent of the TS group had a baccalaureate degree or higher, compared with 30% of U.S. women (pemployed compared with 70% of the U.S. female population. Approximately 50% of the TS group had ever married, compared with 78% of the general female population (peducation, employment, or marital status. Women with TS currently achieve education and employment levels higher than the female U.S. population but are less likely to marry. Neither adult height nor parental origin of the single X chromosome influenced outcomes in education, employment, or marriage.

  2. Long-term hormone replacement therapy preserves bone mineral density in Turner syndrome

    DEFF Research Database (Denmark)

    Cleemann, Line; Hjerrild, Britta E; Lauridsen, Anna L

    2009-01-01

    CONTEXT: Reduced bone mineral density (BMD) and increased risk of fractures are present in many women with Turner syndrome (TS). OBJECTIVE: Examine longitudinal changes in BMD in TS and relate changes to biochemical parameters. DESIGN: Prospective, pragmatic, and observational study. Examinations......-informed women with TS, being encouraged to maintain a healthy lifestyle, including HRT and intake of calcium and vitamin D.......-dominant forearm. Bone formation and resorption markers, sex hormones, IGF1, and maximal oxygen uptake. RESULTS: At follow-up, forearm BMD, radius ultradistal BMD, and hip BMD remained unchanged, radius 1/3 BMD declined (0.601+/-0.059 vs 0.592+/-0.059, P=0.03), while spine BMD increased (0.972+/-0.139 vs 1.......010+/-0.144, Pformation markers did not change over time in TS. Bone resorption markers decreased over time in TS. Testosterone, IGF1, and maximal oxygen uptake was significantly reduced in TS. CONCLUSION: Longitudinal changes in BMD in TS were slight. BMD can be maintained at most sites in well...

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

    Science.gov (United States)

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

    2016-11-30

    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.

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

    Science.gov (United States)

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

    2013-01-01

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

  5. A case of 45,X/47,XXX mosaic Turner syndrome with limb length discrepancy.

    Science.gov (United States)

    Hishimura-Yonemaru, Nozomi; Okuhara, Koji; Takahashi, Nobuhiro; Tonoki, Hidefumi; Iizuka, Susumu; Tajima, Toshihiro

    2017-01-01

    Patients with Turner syndrome (TS) frequently show short stature and skeletal deformities, such as kyphosis and scoliosis. However, to the best of our knowledge, limb length discrepancy (LLD) has not yet been reported in patients with TS. The case of a 12-yr-old girl with 45,X/47,XXX mosaic TS showing LLD is herein presented. She was on GH therapy for short stature and was noted to have scoliosis in the standing position at a regular examination; however, the scoliosis became less evident in the supine position, which is indicative of LLD. The length of the left leg was 5.0 cm shorter than that of the right leg when measured. She was referred to orthopedics and underwent right distal femoral and right proximal tibial staple epiphysiodesis to shorten the abnormally long limb at 10 yr 6 mo of age. One year after the operation, the LLD decreased from 5.0 to 1.5 cm. During this period, GH was continued. LLD is a rare complication in TS, but when patients with TS show scoliosis in the standing position, re-evaluation for scoliosis in the supine position should be performed and the lengths of both legs should be measured.

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

    Science.gov (United States)

    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.

  7. Responses to falling lll: defense mechanisms used by women with Turner syndrome and variants

    Directory of Open Access Journals (Sweden)

    Vera Lúcia Soares Chvatal

    2009-01-01

    Full Text Available BACKGROUND: Article extracted from the doctoral research entitled "Experiences of the infertility phenomenon by patients suffering from Turner syndrome and variants: a clinical-qualitative study" approved by the University of Campinas. OBJECTIVES: To understand the defenses employed by women suffering from TS and different ways of dealing with the disease. METHOD: Qualitative research with exploratory design, non-experimental. The instrument consisted of a semidirect psychological interview, involving 13 women, undergoing semestral medical follow-up at the Center for Integral Attention to Women's Health (CAISM, and whose sampling was determined by saturation. Data was interpreted using the psychodynamic approach along with an eclectic framework of theoretical references for discussion in the spirit of interdisciplinary approach. RESULTS:These women displayed psychosocial conflicts such as difficulties in interpersonal relationships; feelings of resignation, anger, impotence, devaluation and depression symptoms. Defenses used were: repression, denial, annulment, fantasizing, adaptation and sublimation. DISCUSSION: Women suffering from TS and variants must deal with the disease's organic and psychic implications that cause great suffering and often hinder a saner social insertion. In this case, the study's findings can guide ambulatory psychological support concomitantly to the routine clinical protocol.OBJETIVO:Conhecer as defesas utilizadas por mulheres com síndrome de Turner (ST ou formas variantes para lidar com a doença. MÉTODO: Pesquisa qualitativa com desenho exploratório, não experimental. O instrumento consistiu em entrevista psicológica semidirigida, aplicada em 13 mulheres, cuja amostragem deu-se por saturação, as quais fazem acompanhamento semestral no Centro de Atendimento Integral à Saúde da Mulher. Os dados foram interpretados utilizando-se da abordagem psicodinâmica, aliada a um quadro eclético de referenciais te

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

    Science.gov (United States)

    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.

  9. Health status, quality of life and medical care in adult women with Turner syndrome

    Directory of Open Access Journals (Sweden)

    Diana-Alexandra Ertl

    2018-04-01

    Full Text Available Background: Previous studies have shown that only a minority of patients with Turner syndrome (TS have adequate medical care after transfer to adult care. Aim of this study: To assess the status of medical follow-up and quality of life (QoL in adult women diagnosed with TS and followed up until transfer. To compare the subjective and objective view of the medical care quality and initiate improvements based on patients’ experiences and current recommendations. Methods: 39 adult women with TS out of 64 patients contacted were seen for a clinical and laboratory check, cardiac ultrasound, standardized and structured questionnaires (SF-36v2 and Beck depression inventory. Results: 7/39 of the patients were not being followed medically at all. Only 2/39 consulted all the specialists recommended. Comorbidities were newly diagnosed in 27/39 patients; of these, 11 related to the cardiovascular system. Patients in our cohort scored as high as the mean reference population for SF-36v2 in both mental and physical compartments. Obese participants had lower scores in the physical function section, whereas higher education was related to higher physical QoL scores. Adult height slightly correlated positively with physical health. Conclusion: Medical follow-up was inadequate in our study cohort of adults with TS. Even though their medical follow-up was insufficient, these women felt adequately treated, leaving them vulnerable for premature illness. Initiatives in health autonomy and a structured transfer process as well as closer collaborations within specialities are urgently needed.

  10. Growth hormone therapy of Turner's syndrome: beneficial effect on adult height.

    Science.gov (United States)

    Rosenfeld, R G; Attie, K M; Frane, J; Brasel, J A; Burstein, S; Cara, J F; Chernausek, S; Gotlin, R W; Kuntze, J; Lippe, B M; Mahoney, C P; Moore, W V; Saenger, P; Johanson, A J

    1998-02-01

    To carry out a multicenter, prospective, randomized trial of human growth hormone (GH), alone or in combination with oxandrolone (OX), in patients with Turner's syndrome (TS). In an initial phase lasting 12 to 24 months, 70 girls with TS, verified by karyotype, were randomly assigned to one of four groups: (1) observation, (2) OX, (3) GH, or (4) GH plus OX. After completion of the first phase, group 3 subjects continued to receive GH only. All other subjects were treated with GH plus OX. Subjects were followed up until attainment of adult height and/or cessation of treatment. Data from this trial were compared with growth characteristics of 25 American historical subjects with TS (matched for age, height, parental target height, and karyotype) who never received either GH or androgens. Of the 70 subjects enrolled, 60 completed the clinical trial. The 17 subjects receiving GH alone all completed the trial and reached a height of 150.4+/-5.5 cm (mean +/- SD), 8.4+/-4.5 cm taller than their mean projected adult height at enrollment (95% confidence interval [CI]: 6.3 to 10.6 cm). The 43 subjects receiving GH plus OX attained a mean height of 152.1+/-5.9 cm, 10.3+/-4.7 cm taller than their mean projected adult height (95% CI: 8.9 to 11.7 cm). The historical control subjects had a mean adult height of 144.2+/-6.0 cm, precisely matching their original projected adult height of 144.2+/-6.1 cm. GH, either alone or in combination with OX, is capable of stimulating short-term growth and augmenting adult height in girls with TS. With early diagnosis and initiation of treatment, an adult height of more than 150 cm is a reasonable goal for most girls with TS.

  11. Karyotype classification, clinical manifestations and outcome in 124 Turner syndrome patients in China.

    Science.gov (United States)

    Wu, Hua-Hong; Li, Hui

    2018-03-23

    To investigate the karyotype, clinical manifestations and natural and therapeutic outcome of Turner syndrome (TS) in China. A total of 124 TS patients with definite diagnosis were included. Karyotype, main clinical signs, sexual development and therapeutic outcome were analyzed. TS karyotype was classified in 4 types: monosomy (32.7%), mosaic (15.9%), variant (23.9%) and mosaic with variant (27.4%). All patients showed short stature, with mean adult height<145cm. Sixteen percent of adolescent patients showed spontaneous breast development and 8% spontaneous menstruation. The rate of spontaneous sexual development was lowest in the monosomy karyotype. Common signs included cubitus valgus and wide breast space in about 50% of patients, epicanthus and skin nevus in 30% and webbed neck and shield chest in 10-20%. More than 10% of patients had associated heart, kidney or thyroid abnormalities. The rate of kidney malformation was highest in the monosomy karyotype. Growth hormone (GH) therapy can accelerate growth, with 7.6cm and 6.7cm increase in height in the first and second years of therapy respectively, slowing to 5.7cm and 4.1cm in the third and fourth years. Treated patients who reached nearly adult height were 10.2cm taller than untreated patients. Therapeutic effect correlated with GH therapy duration. TS patients showed a variety of karyotypes, related to the diversity of clinical manifestations and outcomes. Sexual development and adult height were poorer in monosomy karyotypes than in other types. Copyright © 2018 Elsevier Masson SAS. All rights reserved.

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

    Science.gov (United States)

    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.

  13. Growth hormone therapy in a girl with Turner syndrome and diabetes type 1 - case report.

    Science.gov (United States)

    Obara-Moszynska, Monika; Banaszak, Magdalena; Niedziela, Marek

    2015-01-01

    The studies indicate the complex etiology of abnormal glucose metabolism in the Turner syndrome (TS). In the light of these carbohydrate disorders a therapy with recombinant growth hormone (rGH) in TS may be associated with complications, as growth hormone has a diabetogenic potential. Perinatal history is unknown since the patient was adopted at the age of 4 years. At 11 years old, due to typical phenotype, TS was diagnosed. The karyotype was 45,X[43]/46,X,i(X)(q10)[7]. At the same age, basing on laboratory results, insulin dependent diabetes was diagnosed and the conventional insulin therapy was initiated. During the hospitalization, at the age of 12 years, the patient was 123.5cm (-4.4SD). At the same age rGH tre-atment was initiated, with the dose 0.045 mg/kg/d. After 3 months of therapy the height velocity rose to 8.2 cm/ year. At the age of 13 years, substitution with 17β-estradiol was started. After 3 years and 4 months the growth hormone treatment was stopped because of poor height velocity. The final height of the patient was 140 cm (-4,OSD). Two years after the end of rGH treatment the height was 141.2 cm. After termination of rGH treatment the need for daily insulin dose decreased from 50-60U/d to 38-44U/d. The decision of rGH therapy in TS with diabetes is certainly difficult. While starting the growth hormone treatment the clinician must keep in mind the risk of metabolic complications, but also the awareness that gives the patient a chance to improve the final height. In terms of the proper psycho-emotional development the reduction of growth deficit is very important. © Polish Society for Pediatric Endocrinology and Diabetology.

  14. [Shereshevsky-Turner syndrome: Estrogen replacement therapy and cardiovascular risk factors].

    Science.gov (United States)

    Yevstigneeva, O A; Andreeva, E N; Grigoryan, O R; Volevodz, N N; Melnichenko, G A; Dedov, I I

    To investigate the impact of menopausal hormone therapy (MHT) on the expression of risk factors for cardiovascular events (CVEs) in patients with Shereshevsky-Turner syndrome (STS); to elaborate an algorithm for patient management using MHT. From 2010 to 2012, a total of 41 patients aged 14 to 35 years with STS were examined in the framework of a prospective observational study. 100 STS case histories in 2000 to 2009 were retrospectively analyzed. The indicators of the so-called cardiometabolic risk, such as body mass index (BMI), lipidogram readings, venous plasma glucose levels, and blood pressure, were estimated in relation to the type of MHT. In the prospective part of the investigation, an angioscan was used to estimate vessel characteristics (stiffness, wall tone, endothelial function (EF)), by using the examination data. 90% of the patients with STS were found to have risk factors for CVEs: atherogenic dyslipidemia (85%; 51% in the general female population of the same age), diastolic hypertension (36%; no more than 5% that is not typical for age-matched healthy general female population). In addition to increased arterial wall stiffness (AWS), obvious EF disorder is typical for STS patients. MHT was accompanied by a dose-dependent (estradiol, at least 2 mg) reduction in diastolic blood pressure by an average of 13% over 24 months, an increase in high density lipoprotein levels by more than 10% over 24 months and also contributedto a decrease in AWS and an improvement in EF. By favorably affecting the EF of vessels and reducing the severity of atherogenic dyslipidemia, MHT potentially enables a reduction in CV risk in patients with STS.

  15. [Carbohydrate metabolism in patients with Turner syndrome. The effect of therapy with growth hormone, oxandrolone and a combination of both].

    Science.gov (United States)

    Starzyk, Jerzy

    2005-01-01

    Insulin resistance or the impairment of insulin capability to decrease blood glucose levels is seen in approximately 25% of girls with Turner syndrome (TS). Growth hormone (hGH), especially when administered at pharmacological doses, may additionally negatively affect the carbohydrate metabolism in TS girls, changing the response of peripheral tissues to insulin. The aim of the report was the assessment of glucose and insulin release and the prevalence of insulin resistance in physiological conditions (baseline and post-standard meal values), as well as after oral and IV glucose tolerance test in patients with Turner syndrome after a 6-month therapy with growth hormone, oxandrolone (Ox) and a combination of these two agents (hGH+Ox). The authors also evaluated the effect of these three therapeutic methods on carbohydrate metabolism, attempting to define the risk of glucose intolerance, type 2 diabetes and hyperinsulinemia and insulin resistance. The analysis of individual results in all the patients revealed that laboratory criteria for diagnosis type 2 diabetes (glycemia at 120 min OGTT >12.2 mmol/l) were met by one patient subjected to a combined therapy. Glucose intolerance (IGT) in OGTT, normally seen in 12.5% of untreated girls, was not intensified following a 6-month hGH or Ox therapy, but was more pronounced in patients on the combined treatment. A tendency was seen towards fasting hyperinsulinism (>25 uLI/ml) in patients on hGH and hGH+Ox, with more pronounced insulin resistance (IR15) in girls on the combined therapy. Combined treatment with growth hormone and oxandrolone results in a significant increase of insulin secretion and increased insulin resistance. In view of the effects of insulin resistance, one should analyze the advisability of combined treatment with growth hormone and oxandrolone in girls with Turner syndrome.

  16. First-trimester screening for trisomies 18 and 13, triploidy and Turner syndrome by detailed early anomaly scan.

    Science.gov (United States)

    Wagner, P; Sonek, J; Hoopmann, M; Abele, H; Kagan, K O

    2016-10-01

    To examine the performance of first-trimester ultrasound screening for trisomies 18 and 13, triploidy and Turner syndrome based on fetal nuchal translucency thickness (NT), additional fetal ultrasound markers including anatomy of the nasal bone (NB), blood flow across the tricuspid valve (TV) and through the ductus venosus (DV) and a detailed fetal anomaly scan at 11-13 weeks' gestation. This was a retrospective case-matched study involving pregnant women at 11-13 weeks' gestation. The study population consisted of fetuses with trisomy 18, trisomy 13, triploidy or Turner syndrome. For each fetus with an abnormal karyotype, 50 randomly selected euploid fetuses were added to the study population. In all cases, the crown-rump length and NT were measured. In addition NB, TV flow and DV flow were examined. The summed risk for trisomies 21, 18 and 13 was computed based on: first, maternal age (MA); second, MA and fetal NT; third, MA, NT and one of the markers NB, TV flow or DV flow; fourth, MA, NT and all these markers combined; fifth, MA, NT and fetal anomalies; and, finally, MA, NT, all markers and fetal anomalies. The study population consisted of 4550 euploid and 91 aneuploid fetuses. Median NT was 1.8 mm in euploid fetuses and 4.8, 6.8, 1.8 and 10.0 mm in fetuses with trisomy 18, trisomy 13, triploidy and Turner syndrome, respectively. The NB, TV flow and DV flow were abnormal in 48 (1.1%), 34 (0.7%) and 99 (2.2%) euploid fetuses, respectively, and in 42 (46.2%), 31 (34.1%) and 62 (68.1%) aneuploid fetuses, respectively. At least one defect was found in 60 (1.3%) euploid and in 76 (83.5%) aneuploid fetuses. For a false-positive rate of 3%, the detection rate for screening based on MA and fetal NT was 75.8%. It increased to 84.6-86.8% when including one of the additional ultrasound markers and it was 90.1% when all three markers were included. When screening was based on MA, fetal NT and a detailed anomaly scan, the detection rate was 94.5% and increased to 95

  17. Six-year results of a randomized, prospective trial of human growth hormone and oxandrolone in Turner syndrome.

    Science.gov (United States)

    Rosenfeld, R G; Frane, J; Attie, K M; Brasel, J A; Burstein, S; Cara, J F; Chernausek, S; Gotlin, R W; Kuntze, J; Lippe, B M

    1992-07-01

    Seventy girls with Turner syndrome, verified by karyotype, were randomly assigned to observation or treatment with human growth hormone (hGH), oxandrolone, or a combination of hGH plus oxandrolone for a period of 12 to 24 months, to assess the effect of treatment on growth velocity and adult height. Subsequently, all subjects received either hGH alone or hGH plus oxandrolone. Data are presented for 62 subjects treated for a period of 3 to 6 years. When compared with the anticipated growth rate in untreated patients, the growth rate after treatment with hGH, both alone and in combination with oxandrolone, showed a sustained increase for at least 6 years. Treatment is continuing in over half of the subjects; at present, 14 (82%) of 17 girls receiving hGH alone and 41 (91%) of 45 girls receiving combination therapy exceeded their expected adult heights. Thirty girls have completed treatment; mean height for these 30 patients is 151.9 cm, compared with their mean original projected adult height of 143.8 cm. We conclude that therapy with hGH, alone and in combination with oxandrolone, can result in a sustained increase in growth rate and a significant increase in adult height for most prepubertal girls with Turner syndrome.

  18. Carbohydrate and lipid metabolism in Turner syndrome: effect of therapy with growth hormone, oxandrolone, and a combination of both.

    Science.gov (United States)

    Wilson, D M; Frane, J W; Sherman, B; Johanson, A J; Hintz, R L; Rosenfeld, R G

    1988-02-01

    To evaluate the effects of growth-promoting therapy on carbohydrate metabolism in girls with Turner syndrome, we determined glucose and insulin concentrations during oral glucose tolerance tests (OGTTs) at baseline and after 5 days, 2 months, and 12 months of treatment with growth hormone (GH), oxandrolone, or a combination of GH and oxandrolone, or after the same intervals with no therapy. Before therapy, subjects had a significantly greater glucose response during OGTT than published normal control values. There were no significant changes in mean fasting glucose, cholesterol, or triglyceride concentrations in any of the treatment groups. The integrated glucose concentrations rose significantly over baseline values in the oxandrolone group at 2 and 12 months and in the combination group at 5 days. There were significant increases in the mean integrated insulin concentrations at 2 and 12 months for the group receiving oxandrolone alone and at all three times for the group receiving combination therapy. Thus oxandrolone, alone or in combination with GH, had significant effects on carbohydrate metabolism in subjects with Turner syndrome, whereas GH alone did not.

  19. Studying early lethality of 45,XO (Turner's syndrome embryos using human embryonic stem cells.

    Directory of Open Access Journals (Sweden)

    Achia Urbach

    Full Text Available Turner's syndrome (caused by monosomy of chromosome X is one of the most common chromosomal abnormalities in females. Although 3% of all pregnancies start with XO embryos, 99% of these pregnancies terminate spontaneously during the first trimester. The common genetic explanation for the early lethality of monosomy X embryos, as well as the phenotype of surviving individuals is haploinsufficiency of pseudoautosomal genes on the X chromosome. Another possible mechanism is null expression of imprinted genes on the X chromosome due to the loss of the expressed allele. In contrast to humans, XO mice are viable, and fertile. Thus, neither cells from patients nor mouse models can be used in order to study the cause of early lethality in XO embryos. Human embryonic stem cells (HESCs can differentiate in culture into cells from the three embryonic germ layers as well as into extraembryonic cells. These cells have been shown to have great value in modeling human developmental genetic disorders. In order to study the reasons for the early lethality of 45,XO embryos we have isolated HESCs that have spontaneously lost one of their sex chromosomes. To examine the possibility that imprinted genes on the X chromosome play a role in the phenotype of XO embryos, we have identified genes that were no longer expressed in the mutant cells. None of these genes showed a monoallelic expression in XX cells, implying that imprinting is not playing a major role in the phenotype of XO embryos. To suggest an explanation for the embryonic lethality caused by monosomy X, we have differentiated the XO HESCs in vitro an in vivo. DNA microarray analysis of the differentiated cells enabled us to compare the expression of tissue specific genes in XO and XX cells. The tissue that showed the most significant differences between the clones was the placenta. Many placental genes are expressed at much higher levels in XX cells in compare to XO cells. Thus, we suggest that abnormal

  20. Secular Trends on Birth Parameters, Growth, and Pubertal Timing in Girls with Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Joachim Woelfle

    2018-02-01

    Full Text Available BackgroundWhether children with chromosomal disorders of growth and puberty are affected by secular trends (STs as observed in the general population remains unanswered, but this question has relevance for expectations of spontaneous development and treatment responses.ObjectivesThe aim of the study was to evaluate STs in birth parameters, growth, and pubertal development in girls with Turner syndrome (TS.Study designRetrospective analysis of KIGS data (Pfizer International Growth Database. We included all TS patients who entered KIGS between 1987 and 2012 and were born from 1975 to 2004, who were prepubertal and growth treatment naïve at first entry (total number: 7,219. Pretreatment height and ages at the start of treatment were compared across 5-year birth year groups, with subgroup analyses stratified by induced or spontaneous puberty start.ResultsWe observed significant STs across the birth year groups for birth weight [+0.18 SD score (SDS, p < 0.001], pretreatment height at mean age 8 years (+0.73 SDS, p < 0.001, height at the start of growth hormone (GH therapy (+0.38 SDS, p < 0.001 and start of puberty (+0.42 SDS, p < 0.001. Spontaneous puberty onset increased from 15 to 30% (p < 0.001. Mean age at the start of GH treatment decreased from 10.8 to 7.4 years (−3.4 years; p < 0.001, and substantial declines were seen in ages at onset of spontaneous and induced puberty (−2.0 years; p < 0.001 and menarche (−2.1 years; p < 0.001.ConclusionEnvironmental changes leading to increased height and earlier and also more common, spontaneous puberty are applicable in TS as in normal girls. In addition, greater awareness for TS may underlie trends to earlier start of GH therapy and induction of puberty at a more physiological age.

  1. The effects of GH and hormone replacement therapy on serum concentrations of mannan-binding lectin, surfactant protein D and vitamin D binding protein in Turner syndrome

    DEFF Research Database (Denmark)

    Gravholt, Claus Højbjerg; Leth-Larsen, Rikke; Lauridsen, Anna Lis

    2004-01-01

    function. In the present study we examined whether GH or hormone replacement therapy (HRT) in Turner syndrome (TS) influence the serum concentrations of MBL and two other proteins partaking in the innate immune defence, surfactant protein D (SP-D) and vitamin D binding protein (DBP). DESIGN: Study 1...

  2. Coexisting diseases modifying each other’s presentation - lack of growth failure in Turner syndrome due to the associated pituitary gigantism

    Directory of Open Access Journals (Sweden)

    Dragović Tamara

    2016-01-01

    Full Text Available Introduction. Turner syndrome presents with one of the most frequent chromosomal aberrations in female, typically presented with growth retardation, ovarian insufficiency, facial dysmorphism, and numerous other somatic stigmata. Gigantism is an extremely rare condition resulting from an excessive growth hormone (GH secretion that occurs during childhood before the fusion of epiphyseal growth plates. The major clinical feature of gigantism is growth acceleration, although these patients also suffer from hypogonadism and soft tissue hypertrophy. Case report. We presented a girl with mosaic Turner syndrome, delayed puberty and normal linear growth for the sex and age, due to the simultaneous GH hypersecretion by pituitary tumor. In the presented case all the typical phenotypic stigmata related to Turner syndrome were missing. Due to excessive pituitary GH secretion during the period while the epiphyseal growth plates of the long bones are still open, characteristic stagnation in longitudinal growth has not been demonstrated. The patient presented with delayed puberty and primary amenorrhea along with a sudden appearance of clinical signs of hypersomatotropinism, which were the reasons for seeking medical help at the age of 16. Conclusion. Physical examination of children presenting with delayed puberty but without growth arrest must include an overall hormonal and genetic testing even in the cases when typical clinical presentations of genetic disorder are absent. To the best of our knowledge, this is the first reported case of simultaneous presence of Turner syndrome and gigantism in the literature.

  3. [Congenital disorders of the cardiovascular system and their complications in a 21-year-old woman with Turner syndrome--a case report].

    Science.gov (United States)

    Załuska, Roman; Kazłowski, Jacek; Gumkowska, Anna; Pikto-Pietkiewicz, Witold

    2008-01-01

    A 21-year-old woman with Turner syndrome was admitted to hospital because of progressive heart failure. Echocardiography revealed a bicuspid aortic valve with one cusp ruptured due to infective endocarditis and anomalous pulmonary venous drainage. The patient underwent successful aortic valve replacement.

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

    Energy Technology Data Exchange (ETDEWEB)

    Letterie, G.S. [Virginia Mason Medical Center, Seattle, WA (United States)

    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.

  5. A heterozygous mutation in RPGR associated with X-linked retinitis pigmentosa in a patient with Turner syndrome mosaicism (45,X/46,XX).

    Science.gov (United States)

    Zhou, Qi; Yao, Fengxia; Wang, Feng; Li, Hui; Chen, Rui; Sui, Ruifang

    2018-01-01

    Turner syndrome with retinitis pigmentosa (RP) is rare, with only three cases reported based on clinical examination alone. We summarized the 4-year follow-up and molecular findings in a 28-year-old patient with Turner syndrome and the typical features of short stature and neck webbing, who also had X-linked RP. Her main complaints were night blindness and progressive loss of vision since the age of 9 years. Ophthalmologic examination, optical coherent tomographic imaging, and visual electrophysiology tests showed classic manifestations of RP. The karyotype of peripheral blood showed mosaicism (45,X [72%]/46,XX[28%]). A novel heterozygous frameshift mutation (c.2403_2406delAGAG, p.T801fsX812) in the RP GTPase regulator (RPGR) gene was detected using next generation sequencing and validated by Sanger sequencing. We believe that this is the first report of X-linked RP in a patient with Turner syndrome associated with mosaicism, and an RPGR heterozygous mutation. We hypothesize that X-linked RP in this woman is not related to Turner syndrome, but may be a manifestation of the lack of a normal paternal X chromosome with intact but mutated RPGR. © 2017 Wiley Periodicals, Inc.

  6. Coexisting diseases modifying each other’s presentation - lack of growth failure in Turner syndrome due to the associated pituitary gigantism.

    Science.gov (United States)

    Dragović, Tamara; Đuran, Zorana; Jelić, Svetlana; Marinković, Dejan; Kiković, Saša; Kuzmić-Janković, Snežana; Hajduković, Zoran

    2016-10-01

    Turner syndrome presents with one of the most frequent chromosomal aberrations in female, typically presented with growth retardation, ovarian insufficiency, facial dysmorphism, and numerous other somatic stigmata. Gigantism is an extremely rare condition resulting from an excessive growth hormone (GH) secretion that occurs during childhood before the fusion of epiphyseal growth plates. The major clinical feature of gigantism is growth acceleration, although these patients also suffer from hypogonadism and soft tissue hypertrophy. We presented a girl with mosaic Turner syndrome, delayed puberty and normal linear growth for the sex and age, due to the simultaneous GH hypersecretion by pituitary tumor. In the presented case all the typical phenotypic stigmata related to Turner syndrome were missing. Due to excessive pituitary GH secretion during the period while the epiphyseal growth plates of the long bones are still open, characteristic stagnation in longitudinal growth has not been demonstrated. The patient presented with delayed puberty and primary amenorrhea along with a sudden appearance of clinical signs of hypersomatotropinism, which were the reasons for seeking medical help at the age of 16. Physical examination of children presenting with delayed puberty but without growth arrest must include an overall hormonal and genetic testing even in the cases when typical clinical presentations of genetic disorder are absent. To the best of our knowledge, this is the first reported case of simultaneous presence of Turner syndrome and gigantism in the literature.

  7. Normalization of height in girls with Turner syndrome after long-term growth hormone treatment : Results of a randomized dose-response trial

    NARCIS (Netherlands)

    Sas, TCJ; Keizer-Schrama, SMPFD; Stijnen, T; Jansen, M; Otten, BJ; Hoorweg-Nijman, JJG; Vulsma, T; Massa, GG; Rouwe, CW; Reeser, HM; Gerver, WJ; Gosen, JJ; Rongen-Westerlaken, C; Drop, SLS

    1999-01-01

    Short stature and ovarian failure are the main features in Turner syndrome (TS). To optimize GH and estrogen treatment, we studied 68 previously untreated girls with TS, age 2-11 yr, who were randomly assigned to one of three GH dosage groups: group A, 4 IU/m(2).day (approximate to 0.045 mg/kg.day);

  8. Yearly stepwise increments of the growth hormone dose results in a better growth response after four years in girls with Turner syndrome. Dutch Working Group on Growth Hormone

    NARCIS (Netherlands)

    van Teunenbroek, A.; de Muinck Keizer-Schrama, S. M.; Stijnen, T.; Jansen, M.; Otten, B. J.; Delemarre-van de Waal, H. A.; Vulsma, T.; Wit, J. M.; Rouwé, C. W.; Reeser, H. M.; Gosen, J. J.; Rongen-Westerlaken, C.; Drop, S. L.

    1996-01-01

    To optimize the growth promoting effect of growth hormone (GH), 65 previously untreated girls with Turner syndrome (TS), chronological age (CA) 2-11 yr, were randomized into 3 dosage regimen groups: A, B, and C, with a daily recombinant-human GH dose during 4 study years of 4-4-4-4, 4-6-6-6, and

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

    Directory of Open Access Journals (Sweden)

    Nikolaos Tsagkas

    2015-01-01

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

  10. Three-year results of a randomized prospective trial of methionyl human growth hormone and oxandrolone in Turner syndrome.

    Science.gov (United States)

    Rosenfeld, R G; Hintz, R L; Johanson, A J; Sherman, B; Brasel, J A; Burstein, S; Chernausek, S; Compton, P; Frane, J; Gotlin, R W

    1988-08-01

    Seventy girls with Turner syndrome, 4 to 12 years of age, participated in a prospective, randomized study to determine the effects on growth of methionyl human growth hormone (met-hGH) or oxandrolone. Subjects were randomly assigned to receive either no treatment (control) or met-hGH (0.125 mg/kg three times per week), oxandrolone (0.125 mg/kg/day), or combination met-hGH plus oxandrolone. At the end of an initial period of 12 to 20 months, patients in the original control and oxandrolone groups were given combination met-hGH plus oxandrolone. At that time the dosage of oxandrolone was lowered to 0.0625 mg/kg/day. Sixty-five subjects have now completed the first 3 years of the study. Compared with the control growth rate for year 1 (3.8 cm/yr), significant increases in growth rate were seen in all 3 years of combination therapy (9.8, 7.4, and 6.1 cm/yr, respectively) and in the first 2 years of treatment with met-hGH alone (6.6, 5.4, and 4.6 cm/yr). When growth velocity was expressed as standard deviation for age in girls with Turner syndrome, significant increases relative to the control group for year 1 (-0.1 SD) were seen in all three years of both combination therapy and met-hGH alone (combination, +6.6, +4.3, +3.0 SD; met-hGH, +3.1, +2.0, +1.4 SD). After 3 years of treatment, predicted adult height by the method of Bayley-Pinneau increased 4.5 cm in the met-hGH group and 8.2 cm in the combination group.

  11. Detection of Turner syndrome using X-chromosome inactivation specific differentially methylated CpG sites: A pilot study.

    Science.gov (United States)

    Zhang, Qiang; Guo, Xiaohong; Tian, Tian; Wang, Teng; Li, Qiaoli; Wang, Lei; Liu, Yun; Xing, Qinghe; He, Lin; Zhao, Xinzhi

    2017-05-01

    Early diagnosis of Turner syndrome (TS) may improve preventive measures and treatment. X-chromosome inactivation specific differentially methylated CpG sites (XIDMSs) that are high methylated in inactive X chromosomes (Xi) and unmethylated in active X chromosomes (Xa) may be potential makers for TS detection. The candidate XIDMSs were screened from 9 male and 12 female DNA samples with normal karyotypes using the Illumina 450k array and validated by bisulfite sequencing PCR and pyrosequencing assay. X chromosome dosage was calculated according to the methylation level of multiple XIDMSs. Overall, 108 candidate XIDMSs were screened by the 450k array. Validations indicated that XIDMSs gathered and formed the X-chromosome inactivation specific differentially methylated regions (XIDMRs). Using 3 XIDMRs at SAT1, UXT and UTP14A loci, 36 TS, 22 normal female and 6 male samples were analyzed. Methylation levels of the 20 XIDMSs in the XIDMRs could distinguish between TS and normal female DNA samples, the X chromosome dosage was consistent with karyotyping data. Analyzing samples of 2 triple X syndrome and 3 Klinefelter syndrome patients suggested that this method could be used to detect X chromosome aneuploids other than TS. XIDMSs are widely spread along the X chromosome and might be effective markers for detection of TS and other X chromosome aneuploids. Copyright © 2017 Elsevier B.V. All rights reserved.

  12. Elevated second-trimester maternal serum β-human chorionic gonadotropin and amniotic fluid alpha-fetoprotein as indicators of adverse obstetric outcomes in fetal Turner syndrome.

    Science.gov (United States)

    Alvarez-Nava, Francisco; Soto, Marisol; Lanes, Roberto; Pons, Hector; Morales-Machin, Alisandra; Bracho, Ana

    2015-12-01

    The objective of this study was to determine the ability of biochemical analytes to identify adverse outcomes in pregnancies with Turner syndrome. Maternal serum and amniotic fluid (AF) marker concentrations were measured in 73 singleton pregnancies with Turner syndrome (10-22 weeks of gestation). Fetal Turner syndrome was definitively established by cytogenetic analysis. Two subgroups, fetuses with hydrops fetalis versus fetuses with cystic hygroma, were compared. Receiver operating characteristic curves and relative risk were established for a cut-off multiples of the median ≥3.5 for β-subunit of human chorionic gonadotropin (hCG) or AF alpha-fetoprotein (AFP). Forty-nine (67%) of 73 pregnant women had an abnormal maternal serum. While levels of pregnancy-associated plasma protein-A and free β-subunit (fβ)-hCG were not different to those of the control group, AFP, unconjugated estriol and β-hCG concentrations were significantly different in the study group (P < 0.05), when compared to those of unaffected pregnancies. Levels of β-hCG in pregnancies with hydrops fetalis were significantly higher than in those with cystic hygroma (P <0.0001), as were AF-AFP concentrations (P <0.0015). In addition, abnormalities in both maternal serum β-hCG and AF-AFP predicted fetal death. The relative risk of adverse obstetric outcome was 10.667 (P = 0.0004; 95% confidence interval [CI]: 1.554-73.203) for β-hCG and 2.19 (P = 0.0256; 95% CI: 1.001 to 4.779), for AF-AFP. Maternal serum β-hCG and AF-AFP levels may preferentially identify those Turner syndrome pregnancies with the highest risk of fetal death. © 2015 Japan Society of Obstetrics and Gynecology.

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

    Science.gov (United States)

    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.

  14. Increased prevalence of bicuspid aortic valve in Turner syndrome links with karyotype: the crucial importance of detailed cardiovascular screening.

    Science.gov (United States)

    Klásková, Eva; Zapletalová, Jiřina; Kaprálová, Sabina; Šnajderová, Marta; Lebl, Jan; Tüdös, Zbyněk; Pavlíček, Jan; Černá, Jana; Mihál, Vladimír; Stará, Veronika; Procházka, Martin

    2017-03-01

    Bicuspid aortic valve (BAV) represents one of the strongest risk factors for aortic dissection in Turner syndrome (TS). An exact relation between the occurrence of BAV and a particular karyotype has not been established yet. The aim of this study was to determine the association between karyotype and prevalence of BAV. Sixty-seven TS patients aged between 6.6 and 32.5 years underwent cardiac magnetic resonance imaging (MRI) study. They were divided into four cytogenetic subgroups-45,X karyotype (n=27); 45,X/46,XX mosaicism (n=17); structural abnormalities of the X chromosome (n=10); and 45,X/structural abnormality of the X chromosome mosaicism (n=13). Prevalence of BAV and odds ratio (OR) compared with the general population in the whole study group, and statistical comparison of prevalences of BAV among the individual subgroups were determined. Prevalence of BAV in the whole study group was established as 28.4% [OR 208.3 (95% CI - 103.8-418.0); p-valuekaryotype had the highest prevalence of BAV - 40.7%, p-valuekaryotype significantly predisposed to BAV (p-value=0.05). The 45,X karyotype is associated with the highest prevalence of BAV. Also, the presence of the 45,X cell line in any mosaic karyotype increases the probability of BAV.

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

    Directory of Open Access Journals (Sweden)

    Lucie Attout

    Full Text Available 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.

  16. Selected clinical features of the head and neck in women with Turner syndrome and the 45,X/46,XY karyotype.

    Science.gov (United States)

    Frelich, Agnieszka; Frelich, Jakub; Jeż, Wacław; Irzyniec, Tomasz

    2017-01-01

    A 45,X/46,XY karyotype in women with Turner syndrome (TS) is very rare. The presence of a Y chromosome in the karyotype causes phenotypic differences and increased risk for neoplastic disease, compared to TS-women with other karyotypes. Our study addresses an issue: non-genital phenotypic differences between TS-patients with a Y-chromosome of their karyotype and TS-women without it. Results from patient history/physical examinations of the head and neck of eight TS-women and the 45,X/46,XY karyotype were compared with those observed in 164 TS-women and 30 controls. The heights of TS-groups: 142.5 ± 7.2 and 144.9 ± 7.2 cm were lower than controls (165.2 ± 6.6 cm). Participants were examined from 1995 to 2014. Among 28 study parameters, 15 were more frequently observed in TS women with the 45,X/46,XY karyotype compared to controls. Only abnormalities in the oral cavity and a history of childhood lymphoedema, differed significantly in the TS groups. With respect to the head and neck, the patient history and physical examination results of TS-women and the 45,X/46,XY karyotype and TS and other karyotypes revealed similar differences compared to controls. Compared to others TS patients, 45,X/46,XY individuals might more frequently have oral cavity soft tissue abnormalities and more rarely a history of childhood lymphoedema. (Endokrynol Pol 2017; 68 (1): 47-52).

  17. Karyotype-specific ear and hearing problems in young adults with Turner syndrome and the effect of oxandrolone treatment.

    Science.gov (United States)

    Verver, Eva J J; Freriks, Kim; Sas, Theo C J; Huygen, Patrick L M; Pennings, Ronald J E; Smeets, Dominique F C M; Hermus, Ad R M M; Menke, Leonie A; Wit, Jan M; Otten, Barto J; van Alfen-van der Velden, Janiëlle A E M; de Muinck Keizer-Schrama, Sabine M P F; Topsakal, Vedat; Admiraal, Ronald J C; Timmers, Henri J L M; Kunst, Henricus P M

    2014-10-01

    To evaluate karyotype-specific ear and hearing problems in young-adult patients with Turner syndrome (TS) and assess the effects of previous treatment with oxandrolone (Ox). Double-blind follow-up study. University hospital. Sixty-five TS patients (mean age, 24.3 yr) previously treated with growth hormone combined with placebo, Ox 0.03 mg/kg per day, or Ox 0.06 mg/kg per day from the age of 8 years and estrogen from the age of 12 years. Ear examination was performed according to standard clinical practice. Air- and bone conduction thresholds were measured in decibel hearing level. We compared patients with total monosomy of the short arm of the X chromosome (Xp), monosomy 45,X and isochromosome 46,X,i(Xq), with patients with a partial monosomy Xp, mosaicism or other structural X chromosomal anomalies. We assessed the effect of previous Ox treatment. Sixty-six percent of the patients had a history of recurrent otitis media. We found hearing loss in 66% of the ears, including pure sensorineural hearing loss in 32%. Hearing thresholds in patients with a complete monosomy Xp were about 10 dB worse compared with those in patients with a partial monosomy Xp. Air- and bone conduction thresholds were not different between the placebo and Ox treatment groups. Young-adult TS individuals frequently have structural ear pathology, and many suffer from hearing loss. This indicates that careful follow-up to detect ear and hearing problems is necessary, especially for those with a monosomy 45,X or isochromosome 46,X,i(Xq). Ox does not seem to have an effect on hearing.

  18. A 6-year Follow-up survey of health status in middle-aged women with Turner syndrome.

    Science.gov (United States)

    Fjermestad, Krister W; Naess, Eva E; Bahr, David; Gravholt, Claus H

    2016-09-01

    Studies suggest younger women with Turner syndrome (TS) have good quality of life. Less is known about everyday functioning in adults with TS. In a 6-year follow-up study, multiple areas of functioning were compared between TS women and controls. Women with TS and controls were mailed a self-report survey 6 years after a baseline study. Fifty-seven women with TS (M age 40·6 ± 11·1 years) and 101 controls (M age 38·8 ± 10·6 years, ns) responded. Measures of background information, experienced life strain and presence/impact of health conditions were developed for this study. The QPS Nordic measured perceived workload challenges. The LiSat-9 measured life satisfaction. The Rosenberg Self-Esteem Scale measured self-esteem. More TS women lived alone, fewer had biological children, and more had adoptive children. TS women reported fewer sex partners and less sexual confidence. Controls had higher education. There was no difference in employment status. More TS women received disability pensions. TS women reported their work as more physically challenging, less positively challenging and requiring less knowledge skills. TS women experienced more life strain in school, adolescence and late working life. Controls reported higher overall life satisfaction, with no difference between samples on specific domains. TS women reported lower self-esteem. For TS women only, physical health at baseline predicted length of education and mental health at baseline predicted self-esteem. Women with TS face more challenges than controls on several domains of functioning. Early physical and mental health may influence later educational achievement and self-esteem for women with TS. © 2016 John Wiley & Sons Ltd.

  19. Phenotype in girls and women with turner syndrome: Association between dysmorphic features, karyotype and cardio-aortic malformations.

    Science.gov (United States)

    Noordman, Iris; Duijnhouwer, Anthonie; Kapusta, Livia; Kempers, Marlies; Roeleveld, Nel; Schokking, Michiel; Smeets, Dominique; Freriks, Kim; Timmers, Henri; van Alfen-van der Velden, Janiëlle

    2018-01-12

    Turner syndrome (TS) is a genetic disorder characterized by the (partial) absence or a structural aberration of the second sex chromosome and is associated with a variety of phenotypes with specific physical features and cardio-aortic malformations. The objective of this study was to gain a better insight into the differences in dysmorphic features between girls and women with TS and to explore the association between these features, karyotype and cardio-aortic malformations. This prospective study investigated 14 dysmorphic features of TS girls and women using a checklist. Three major phenotypic patterns were recognized (severe phenotype, lymphatic phenotype and skeletal phenotype). Patient data including karyotype and cardio-aortic malformations (bicuspid aortic valve (BAV) and aortic coarctation (COA)) were collected. Associations between the prevalence of dysmorphic features, karyotype and cardio-aortic malformations were analysed using chi 2 -test and odds ratios. A total of 202 patients (84 girls and 118 women) were analysed prospectively. Differences in prevalence of dysmorphic features were found between girls and women. A strong association was found between monosomy 45,X and the phenotypic patterns. Furthermore, an association was found between COA and lymphatic phenotype, but no association was found between karyotype and cardio-aortic malformations. This study uncovered a difference in dysmorphic features between girls and women. Monosomy 45,X is associated with a more severe phenotype, lymphatic phenotype and skeletal phenotype. All patients with TS should be screened for cardio-aortic malformations, because in contrast to previous reports, karyotype and cardio-aortic malformations showed no significant association. Copyright © 2018. Published by Elsevier Masson SAS.

  20. Analysis of PTPN22, ZFAT and MYO9B polymorphisms in Turner Syndrome and risk of autoimmune disease.

    Science.gov (United States)

    Villanueva-Ortega, E; Ahedo, B; Fonseca-Sánchez, M A; Pérez-Durán, J; Garibay-Nieto, N; Macías-Galavíz, M T; Trujillo-Cabrera, Y; García-Latorre, E; Queipo, G

    2017-08-01

    Turner syndrome (TS) is one of the most common sexual chromosome abnormalities and is clearly associated with an increased risk of autoimmune diseases, particularly thyroid disease and coeliac disease (CD). Single-nucleotide polymorphism analyses have been shown to provide correlative evidence that specific genes are associated with autoimmune disease. Our aim was to study the functional polymorphic variants of PTPN22 and ZFAT in relation to thyroid disease and those of MYO9B in relation to CD. A cross-sectional comparative analysis was performed on Mexican mestizo patients with TS and age-matched healthy females. Our data showed that PTPN22 C1858T (considered a risk variant) is not associated with TS (X 2  = 3.50, p = .61, and OR = 0.33 [95% CI = 0.10-1.10]). Also, ZFAT was not associated with TS (X 2  = 1.2, p = .28, and OR = 1.22 [95% CI = 0.84-1.79]). However, for the first time, rs2305767 MYO9B was revealed to have a strong association with TS (X 2  = 58.6, p = .0001, and OR = 10.44 [95% C = 5.51-19.80]), supporting a high level of predisposition to CD among TS patients. This report addresses additional data regarding the polymorphic variants associated with autoimmune disease, one of the most common complications in TS. © 2017 John Wiley & Sons Ltd.

  1. X-chromosome gene dosage as a determinant of impaired pre and postnatal growth and adult height in Turner syndrome.

    Science.gov (United States)

    Fiot, Elodie; Zenaty, Delphine; Boizeau, Priscilla; Haigneré, Jeremy; Dos Santos, Sophie; Léger, Juliane

    2016-03-01

    Short stature is a key aspect of the phenotype of patients with Turner syndrome (TS). SHOX haploinsufficiency is responsible for about two-thirds of the height deficit. The aim was to investigate the effect of X-chromosome gene dosage on anthropometric parameters at birth, spontaneous height, and adult height (AH) after growth hormone (GH) treatment. We conducted a national observational multicenter study. Birth parameter SDS for gestational age, height, and AH before and after GH treatment respectively, and height deficit with respect to target height (SDS) were classified by karyotype subgroup in a cohort of 1501 patients with TS: 45,X (36%), isoXq (19%), 45,X/46,XX (15%), XrX (7%), presence of Y (6%), or other karyotypes (17%). Birth weight, length (P<0.0001), and head circumference (P<0.001), height and height deficit with respect to target height (SDS) before GH treatment, at a median age of 8.8 (5.3-11.8) years and after adjustment for age and correction for multiple testing (P<0.0001), and AH deficit with respect to target height at a median age of 19.3 (18.0-21.8) years and with additional adjustment for dose and duration of GH treatment (P=0.006), were significantly associated with karyotype subgroup. Growth retardation tended to be more severe in patients with XrX, isoXq, and, to a lesser extent, 45,X karyotypes than in patients with 45,X/46,XX karyotypes or a Y chromosome. These data suggest that haploinsufficiency for an unknown Xp gene increases the risk of fetal and postnatal growth deficit and short AH with respect to target height after GH therapy. © 2016 European Society of Endocrinology.

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

    Science.gov (United States)

    Goetghebeur, Mireille M; Wagner, Monika; Khoury, Hanane; Rindress, Donna; Grégoire, Jean-Pierre; Deal, Cheri

    2010-04-08

    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. 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. 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. 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 decision-making.

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

    Directory of Open Access Journals (Sweden)

    Grégoire Jean-Pierre

    2010-04-01

    Full Text Available Abstract 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.

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

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    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.

  5. Cardiometabolic and vascular risks in young and adolescent girls with Turner syndrome

    Directory of Open Access Journals (Sweden)

    Meenal Mavinkurve

    2015-06-01

    General significance: From a clinical perspective, this review highlights the importance of regular screening and pro-active management of cardiometabolic risk from childhood in TS cohorts and that future research should aim to address whether modification of these variables at a young age can alter the disease process and atherosclerotic outcomes in adulthood.

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

    Directory of Open Access Journals (Sweden)

    Shriram N Rajpathak

    Full Text Available 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.

  7. Carbohydrate metabolism during long-term growth hormone (GH) treatment and after discontinuation of GH treatment in girls with Turner syndrome participating in a randomized dose-response study. Dutch Advisory Group on Growth Hormone

    NARCIS (Netherlands)

    T.C.J. Sas (Theo); S.M.P.F. de Muinck Keizer-Schrama (Sabine); Th. Stijnen (Theo); H-J. Aanstoot (Henk-Jan); S.L.S. Drop (Stenvert)

    2000-01-01

    textabstractTo assess possible side-effects of GH treatment with supraphysiological doses on carbohydrate (CH) metabolism in girls with Turner syndrome (TS) during long term GH treatment and after discontinuation of GH treatment, the results of oral glucose tolerance

  8. Respostas ao adoecimento: mecanismos de defesa utilizados por mulheres com síndrome de Turner e variantes The defenses employed by women with Turner syndrome: dealing with the disease

    Directory of Open Access Journals (Sweden)

    Vera Lúcia Soares Chvatal

    2009-01-01

    Full Text Available OBJETIVO:Conhecer as defesas utilizadas por mulheres com síndrome de Turner (ST ou formas variantes para lidar com a doença. MÉTODO: Pesquisa qualitativa com desenho exploratório, não experimental. O instrumento consistiu em entrevista psicológica semidirigida, aplicada em 13 mulheres, cuja amostragem deu-se por saturação, as quais fazem acompanhamento semestral no Centro de Atendimento Integral à Saúde da Mulher. Os dados foram interpretados utilizando-se da abordagem psicodinâmica, aliada a um quadro eclético de referenciais teóricos para discussão no espírito da interdisciplinaridade. RESULTADOS: Essas mulheres apresentaram conflitos psicossociais como dificuldades de relacionamento interpessoal; sentimentos de resignação, raiva, impotência, desvalia e quadros de depressão. As defesas utilizadas foram: repressão, negação, anulação, fantasia, adaptação e sublimação. CONCLUSÕES:As mulheres com ST ou formas variantes têm de lidar com as intercorrências orgânicas e psíquicas da enfermidade provocando grande sofrimento que, frequentemente, dificultam uma inserção social mais sadia. Neste caso, os achados deste estudo poderão nortear acompanhamento psicológico ambulatorial concomitantemente ao protocolo clínico de rotina.OBJECTIVE:To understand the defenses employed by women suffering from Turner syndrome (TS and different ways of dealing with the disease. METHOD: Qualitative research with exploratory design, non-experimental. The instrument consisted of semi-conducted psychological interview, involving 13 women, undergoing semestral medical follow-up at the Women's Health Care Center, and whose sampling was determined by saturation. Data was interpreted using the psychodynamic approach along with an eclectic framework of theoretical references for discussion in the spirit of interdisciplinary approach. RESULTS:These women displayed psychosocial conflicts such as difficulties in interpersonal relationships

  9. Wachstumshormonrezeptorproteinpolymorphismus und Effektivität der Wachstumshormontherapie bei Kindern mit Ullrich-Turner-Syndrom und intrauterinem Kleinwuchs

    OpenAIRE

    Baur, Friederike

    2007-01-01

    Der Proteinpolymorphismus des Wachstumshormonrezeptors, verursacht durch die Deletion des Exons 3, wurde vor kurzem mit einem unterschiedlichen Ansprechen kleiner Kinder ohne Wachstumshormonmangel auf eine Hochdosis Wachstumshormontherapie in Verbindung gebracht (16). In der vorliegenden Arbeit wurde diese Verbindung an zwei genau definierten Patientenkollektiven überprüft. Untersucht wurden in einer retrospektiven Studie einerseits Turner-Mädchen (n=53), definiert über den Karyotyp, ander...

  10. Síndrome de Turner

    Directory of Open Access Journals (Sweden)

    Emilio Yunis T.

    1972-04-01

    Full Text Available Twenty wholly studied patients with turne's phenotype, whose caryologic studies confirm the chromosomal abnormality, are presented. A review of the literature on the subject has been done. Finally, a discussion on the hypothesis over the origin of the chrosomal abnormality and its significance in the various Turner's phenotypes is presented.

  11. Learning about Turner Syndrome

    Science.gov (United States)

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

  12. Turner Syndrome: Other FAQs

    Science.gov (United States)

    ... NICHD Research Information Find a Study More Information Preeclampsia and Eclampsia About NICHD Research Information Find a ... of the Director Director's Corner Office of Administrative Management (OAM) Office of Communications (OC) Office of Global ...

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

    Energy Technology Data Exchange (ETDEWEB)

    Evlice, Burcu; Tatli, Ufuk; Yazicioglu, Iffet; Oztunc, Haluk [Faculty of Dentistry, Cukurova University, Adana (Turkey); Evlice, Ahmet [Faculty of Medicine, Cukurova University, Adana (Turkey)

    2013-06-15

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

  14. Startling mosaicism of the Y-chromosome and tandem duplication of the SRY and DAZ genes in patients with Turner Syndrome.

    Directory of Open Access Journals (Sweden)

    Sanjay Premi

    Full Text Available Presence of the human Y-chromosome in females with Turner Syndrome (TS enhances the risk of development of gonadoblastoma besides causing several other phenotypic abnormalities. In the present study, we have analyzed the Y chromosome in 15 clinically diagnosed Turner Syndrome (TS patients and detected high level of mosaicisms ranging from 45,XO:46,XY = 100:0% in 4; 45,XO:46,XY:46XX = 4:94:2 in 8; and 45,XO:46,XY:46XX = 50:30:20 cells in 3 TS patients, unlike previous reports showing 5-8% cells with Y- material. Also, no ring, marker or di-centric Y was observed in any of the cases. Of the two TS patients having intact Y chromosome in >85% cells, one was exceptionally tall. Both the patients were positive for SRY, DAZ, CDY1, DBY, UTY and AZFa, b and c specific STSs. Real Time PCR and FISH demonstrated tandem duplication/multiplication of the SRY and DAZ genes. At sequence level, the SRY was normal in 8 TS patients while the remaining 7 showed either absence of this gene or known and novel mutations within and outside of the HMG box. SNV/SFV analysis showed normal four copies of the DAZ genes in these 8 patients. All the TS patients showed aplastic uterus with no ovaries and no symptom of gonadoblastoma. Present study demonstrates new types of polymorphisms indicating that no two TS patients have identical genotype-phenotype. Thus, a comprehensive analysis of more number of samples is warranted to uncover consensus on the loci affected, to be able to use them as potential diagnostic markers.

  15. Transcriptional changes in response to X chromosome dosage in the mouse: implications for X inactivation and the molecular basis of Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Sargent Carole A

    2010-02-01

    Full Text Available Abstract Background X monosomic mice (39,XO have a remarkably mild phenotype when compared to women with Turner syndrome (45,XO. The generally accepted hypothesis to explain this discrepancy is that the number of genes on the mouse X chromosome which escape X inactivation, and thus are expressed at higher levels in females, is very small. However this hypothesis has never been tested and only a small number of genes have been assayed for their X-inactivation status in the mouse. We performed a global expression analysis in four somatic tissues (brain, liver, kidney and muscle of adult 40,XX and 39,XO mice using the Illumina Mouse WG-6 v1_1 Expression BeadChip and an extensive validation by quantitative real time PCR, in order to identify which genes are expressed from both X chromosomes. Results We identified several genes on the X chromosome which are overexpressed in XX females, including those previously reported as escaping X inactivation, as well as new candidates. However, the results obtained by microarray and qPCR were not fully concordant, illustrating the difficulty in ascertaining modest fold changes, such as those expected for genes escaping X inactivation. Remarkably, considerable variation was observed between tissues, suggesting that inactivation patterns may be tissue-dependent. Our analysis also exposed several autosomal genes involved in mitochondrial metabolism and in protein translation which are differentially expressed between XX and XO mice, revealing secondary transcriptional changes to the alteration in X chromosome dosage. Conclusions Our results support the prediction that the mouse inactive X chromosome is largely silent, while providing a list of the genes potentially escaping X inactivation in rodents. Although the lower expression of X-linked genes in XO mice may not be relevant in the particular tissues/systems which are affected in human X chromosome monosomy, genes deregulated in XO mice are good candidates for

  16. A population-based analysis of mortality in patients with Turner syndrome and hypoplastic left heart syndrome using the Texas Birth Defects Registry.

    Science.gov (United States)

    Lara, Diego A; Ethen, Mary K; Canfield, Mark A; Nembhard, Wendy N; Morris, Shaine A

    2017-01-01

    Hypoplastic left heart syndrome (HLHS) is strongly associated with Turner syndrome (TS); outcome data when these conditions coexist is sparse. We aimed to investigate long-term survival and causes of death in this population. The Texas Birth Defects Registry was queried for all live born infants with HLHS during 1999-2007. We used Kaplan-Meier and Cox regression analyses to compare survival among patients with HLHS with TS (HLHS/TS+) to patients who had HLHS without genetic disorders or extracardiac birth defects (HLHS/TS-). Of the 542 patients with HLHS, 11 had TS (2.0%), 71 had other extracardiac birth defects or genetic disorders, and 463 had neither. The median follow-up time was 4.2 y (interquartile range [IQR] 2.1-6.5). Comparing those with HLHS/TS+ to HLHS/TS-, 100% versus 35% were female (P < .001), and median birth weight was 2140 g (IQR 1809-2650) versus 3196 g (IQR 2807-3540, P < .001). Neonatal mortality was 36% in HLHS/TS+ versus 27% in HLHS/TS- (log rank = 0.431). Ten of the 11 TS+ patients died during the study period for cumulative mortality of 91% versus 50% (hazard ratio (HR) for TS+: 2.90, 95% CI 1.53-5.48). Six patients died prior to surgery, 5 underwent Stage 1 palliation (S1P), 3 died after S1P, 2 survived past S2P, and one of these died at age 19 mo. The underlying cause of death was listed as congenital heart disease on all the death certificates of HLHS/TS+ patients. In multivariable analysis controlling for low birth weight (<2500 g), TS remained associated with significantly increased cumulative mortality, although females without TS had higher mortality than males (HR for TS+ versus males: 2.42, 95% CI 1.24-4.73; HR for TS- females versus males: 1.41, 95% CI 1.08-1.83). TS with HLHS is associated with significant mortality. The increased mortality in females without documented TS calls to question if TS is undetected in a portion of females with HLHS. © 2016 Wiley Periodicals, Inc.

  17. Síndrome de Turner: um diagnóstico pediátrico frequentemente realizado por não pediatras Turner syndrome: a pediatric diagnosis frequently made by non-pediatricians

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    Annelise B. Carvalho

    2010-04-01

    Full Text Available OBJETIVO: Analisar as características clínicas de pacientes com suspeita de síndrome de Turner (ST em um serviço de referência. MÉTODOS: Análise retrospectiva de 425 pacientes. Foram colhidos dados de idade, estatura e estádio puberal no momento do diagnóstico, bem como da especialidade do médico que encaminhou a paciente. Comparação das pacientes com e sem ST e daquelas com ST de acordo com a especialidade e análise de correlação entre estatura e idade ao diagnóstico. RESULTADOS: O diagnóstico de ST foi feito, em 36,9% dos casos, com média de idade de 12,0 anos e escore z da estatura = -3,09; havia atraso puberal em 71,4% das 63 pacientes maiores de 13 anos. Comparadas às demais, as meninas com ST apresentavam maior deficit na estatura e maior frequência de atraso puberal. Pacientes com ST encaminhadas por pediatras eram significativamente mais jovens (9,3 anos versus 15,4 anos, porém com estatura e frequência de atraso puberal semelhantes às daquelas encaminhadas por não pediatras. Houve correlação linear negativa significativa entre idade ao diagnóstico e estatura no total de pacientes com ST, mas não entre as encaminhadas por não pediatras. CONCLUSÕES: A média de idade ao diagnóstico da ST ainda é superior àquela dos países desenvolvidos, e a presença de sinais puberais espontâneos e/ou de deficit de crescimento menos acentuado em algumas pacientes pode contribuir para o atraso na suspeita clínica. É necessária divulgação entre pediatras e não pediatras dos conhecimentos necessários ao diagnóstico precoce da ST.OBJECTIVE: To analyze the clinical features of patients with suspected diagnosis of Turner syndrome (TS in a reference service. METHODS: Retrospective analysis of 425 patients: data pertaining to age, height and pubertal stage at diagnosis, as well as the specialty of the physician who referred the patient were collected. Patients with and without TS were compared, as well as those with TS

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

    Science.gov (United States)

    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. © 2016 Wiley Periodicals, Inc.

  19. Screening for celiac disease among patients with Turner syndrome in Brasília, DF, midwest region of Brazil Triagem para doença celíaca em pacientes com síndrome de Turner em Brasília, DF, região centro-oeste do Brasil

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    Maria do Carmo Sorci Dias

    2010-09-01

    Full Text Available CONTEXT: Several studies have demonstrated a higher prevalence of celiac disease (CD among females with Turner syndrome when compared to the general population. Nevertheless, there is no record in literature concerning this investigation among Brazilian patients. OBJECTIVE: To assess the prevalence of CD among a group of Brazilian patients with Turner syndrome. METHODS: Fifty-six females with Turner syndrome and on gluten-containing diet were screened for CD utilizing immunoglobulin A antiendomysium (IgA-EMA and immunoglobulin A anti-tissue transglutaminase (IgA-tTG antibody assays. Additionally, they were genotyped for CD human leukocyte antigen (CD-HLA predisposing alleles. Patients showing positivity in serological testing were offered to perform small intestine biopsy for histological confirmation. RESULTS: Mean age at diagnosis of Turner syndrome was 5.5 ± 4.4 years; mean age at screening for CD was 17.0 ± 9.3 years (from 10 months of age to 52 years. Two girls were positive for IgA-EMA and IgA-tTG, presented predisposing HLA-DQ2 alleles and both had the diagnosis of CD confirmed by jejunal biopsy. CONCLUSION: The 3.6% prevalence of biopsy-proven CD among this group of females with Turner syndrome is 10 times higher than the one among females from the general population of the same geographical area. This result provides additional support to an association between these two disorders and restates that girls and women with Turner syndrome represent a high risk population for developing CD.CONTEXTO: Alguns estudos têm demonstrado maior prevalência de doença celíaca entre mulheres com síndrome de Turner, quando comparadas com a população geral. Entretanto, não há registro na literatura desta investigação em pacientes brasileiras. OBJETIVO: Avaliar a prevalência de doença celíaca entre um grupo de pacientes brasileiras com síndrome de Turner. MÉTODOS: Cinquenta e seis pacientes com síndrome de Turner recebendo dieta contendo

  20. Touched by Turner

    Science.gov (United States)

    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…

  1. Growth hormone therapy of Turner syndrome: the impact of age of estrogen replacement on final height. Genentech, Inc., Collaborative Study Group.

    Science.gov (United States)

    Chernausek, S D; Attie, K M; Cara, J F; Rosenfeld, R G; Frane, J

    2000-07-01

    Clinical trials of recombinant human GH therapy in Turner syndrome that began more than a decade ago show that GH accelerates the linear growth rate. Several studies indicate that final height is also improved, although the magnitude of the increase has been debated. The age at which feminization is induced could be an important factor in determining the patient's ultimate growth response. To test this, 60 patients from a large (n = 117), previously unreported, clinical trial of GH treatment were randomly assigned to begin conjugated estrogens at either 12 or 15 yr of age. The 60 patients were all less than 11 yr of age at entry (mean, 9.5 yr) and received 0.375 mg/kg x week of GH for nearly 6 yr on a daily or three times weekly regimen. Height gain was calculated by comparing the study patients' final or near final heights to their pretreatment projected heights as well as to those of a separate set of age-matched, historical control patients. Patients in whom estrogen treatment was delayed until age 15 yr gained an average of 8.4 +/- 4.3 cm over their projected height, whereas those starting estrogen at 12 yr gained only 5.1 +/- 3.6 cm, on the average (P < 0.01). Analysis of the interval data showed that growth was stimulated for approximately 2 yr after estrogen initiation, but then declined in association with bone age advancement. Patients who were older than 11 yr at entry (n = 57) all initiated estrogen 1 yr after beginning GH and showed a mean gain in adult height of 4.7 cm, similar to those given estrogen at age 12 yr. Multivariate analysis revealed that the number of years of GH therapy before estrogen treatment was a strong factor in predicting height gained, indicating that the timing of estrogen introduction is an important determinant of final height in this cohort of GH-treated patients with Turner syndrome matched for baseline age and other characteristics.

  2. A whole-brain gray and white matter analysis in children with 45XO karyotype Turner syndrome: voxel-based morphometry

    International Nuclear Information System (INIS)

    Zhao Qiuling; Zhang Zhixin; Cheng Pangui; Xie Sheng; Liu Xiwei; Pan Hui; Li Kang; Zhang Jiaying; Gong Gaolang

    2013-01-01

    Objective: To detect the structural changes of cerebral gray and white matter in children of monosomy Turner syndrome (TS) by using voxel-based morphometry (VBM). Methods: Nine children 45XO karyotype TS and 20 age-matched control girls were recruited in this study. Wechsler intelligence scale for children was used to obtain their intelligence quotients (IQ). High-resolution magnetic MR imaging was performed in TS children and control girls to collect the whole brain structural data. The data were analyzed by VBM based on SPM 8 to compare the volume of gray and white matter between the TS children and normal controls by using covariance analysis. Results: The IQ of TS children was 81 ± 13, and the IQ of the controls was 109 ± 16. Statistical analysis revealed significant difference of IQ between the two groups (t = -4.70, P < 0.05). Compared with normal controls, TS children showed significantly decreased volume (numbers of voxel in clusters were 631, 525, 520, t = 3.95, 3.50, 3.36, P < 0.05, FWE-corrected) in the gray matter of the right superior parietal lobule, postcentral gyrus, precuneus lobule, calcarine, cuneus cortices, as well as the left middle and inferior occipital lobe. However, the volume of the bilateral supplemental motor area and the medial superior frontal lobes, the right middle cingulum, the left superior, middle, and inferior temporal gyri were increased in the TS children compared to the controls. The left fusiform, the left parahippocampus, the left hippocampus and the left cerebellum were also enlarged in TS children (numbers of voxel in clusters were 2082, 974, 1708, 588, 579, t = 5.45, 4.59, 4.40, 4.29, 3.55, P < 0.05, FWE-corrected). White matter regions in the left postcentral gyrus and inferior parietal lobule showed significantly reduced volume (voxel number 957, t = 5.85, P < 0.05, FWE-corrected). Conclusion: Children with monosomy TS show abnormal gray and white matter volumes in some brain regions, which may be involved in the

  3. Lichen sclerosus en het syndroom van Turner

    NARCIS (Netherlands)

    van Ijsselmuiden, Mèlanie N; Bos, Annelies M E; Hoek, Annemieke; van Beek, André P; Kerstens, Michiel N

    2010-01-01

    Lichen sclerosus was diagnosed at a young age (19, 22 and 37 years) in three women with Turner syndrome. The oldest of these patients had probably suffered from this disorder for over 20 years. The relatively young age of these three patients is remarkable. This observation also suggests an

  4. Adult height in Turner syndrome girls after long-term growth hormone treatment Talla adulta en pacientes con síndrome de Turner tratadas con hormona de crecimiento a largo plazo

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    Analía Morín

    2009-10-01

    Full Text Available We studied the adult height (AH outcome, and factors likely to influence it, in Turner Syndrome (TS girls treated with growth hormone (GH. A total of 25 TS girls treated with GH were compared with 10 TS girls not treated with GH. The percentage of girls who achieved normal third percentile was determined. Projected AH (PAH was calculated according to height standard deviation score (HSDS at the beginning of the treatment. Gain in height was determined as: AH - pretreatment PAH. The percentage of girls who achieved target range (midparental height±2 SD was determined. Multiple linear regression models were fitted on baseline variables- chronological age (CA, midparental height (MPH and HSDS; and treatment variablesduration of oestrogen-free GH therapy and duration of GH therapy+oestrogens. As for baseline data: median CA was 13.0 years (5.6-15.8. Mean HSDS was 0.25±1.1 SDS. PAH was 139.2±5.6 cm. MPH was 160.0±5.0 cm. As for follow up data: Median CA at onset oestrogens was 15.1 years (13.2-16.6. Median duration of GH therapy was 3.8 years (2.1-10.3. Median oestrogen-free GH period was 2.0 years (0.7-7.8, and median GH+oestrogens period, 1.8 years (1.0-3.2. Adult height: Mean AH was 150.4±7.0 cm in treated patients and 140.8±7.2 cm in the group not treated with GH (p=0.001. Fourteen (56% girls achieved normal third percentile compared with an initially predicted 1 (4%. Gain in height was 11.2±3.7 cm. Thirteen (59% girls reached an AH within target range. HSDS at the beginning of the treatment was the variable most strongly related to AH and duration of oestrogen-free GH period was the variable most strongly related to gain in height.Se estudió la talla adulta (TA y los factores que pudieran influenciarla en niñas con síndrome de Turner (ST tratadas con hormona de crecimiento (HC. Se compararon 25 pacientes con ST tratadas con HC y 10 niñas no tratadas. Se determinó: el porcentaje de niñas que alcanzó el tercer percentilo de la curva

  5. Preliminary Evidence for Aortopathy and an X-Linked Parent-of-Origin Effect on Aortic Valve Malformation in a Mouse Model of Turner Syndrome

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    Robert B. Hinton

    2015-07-01

    Full Text Available Turner syndrome (TS, most frequently caused by X-monosomy (45,X, is characterized in part by cardiovascular abnormalities, including aortopathy and bicuspid aortic valve (BAV. There is a need for animal models that recapitulate the cardiovascular manifestations of TS. Extracellular matrix (ECM organization and morphometrics of the aortic valve and proximal aorta were examined in adult 39,XO mice (where the parental origin of the single X was paternal (39,XPO or maternal (39,XMO and 40,XX controls. Aortic valve morphology was normal (tricuspid in all of the 39,XPO and 40,XX mice studied, but abnormal (bicuspid or quadricuspid in 15% of 39,XMO mice. Smooth muscle cell orientation in the ascending aorta was abnormal in all 39,XPO and 39,XMO mice examined, but smooth muscle actin was decreased in 39,XMO mice only. Aortic dilation was present with reduced penetrance in 39,XO mice. The 39,XO mouse demonstrates aortopathy and an X-linked parent-of-origin effect on aortic valve malformation, and the candidate gene FAM9B is polymorphically expressed in control and diseased human aortic valves. The 39,XO mouse model may be valuable for examining the mechanisms underlying the cardiovascular findings in TS, and suggest there are important genetic modifiers on the X chromosome that modulate risk for nonsyndromic BAV and aortopathy.

  6. Can Brain Natriuretic Peptides and Osteoprotegerin Serve As Biochemical Markers for the Detection of Aortic Pathology in Children and Adolescents with Turner Syndrome?

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    Meenal Mavinkurve

    2017-07-01

    Full Text Available Turner syndrome (TS is a chromosomal disorder that affects 1:2,000 females. It results from either the complete or partial loss of the X chromosome as well as other aberrations. Clinical features of TS include short stature, delayed puberty, and congenital cardiac malformations. TS children also have an increased prevalence of cardiometabolic risk factors, which predisposes them to complications like coronary artery disease, cerebrovascular-related deaths, and aortic dissection. Early cardiac imaging, such as echocardiography and cardiac magnetic resonance imaging, are recommended to detect underlying aortic pathology. However, these modalities are limited by cost, accessibility, and are operator dependent. In view of these shortcomings, alternative methods, like vascular biomarkers, are currently being explored. There are only a few studies that have examined the relationship between B-type natriuretic peptide (BNP, N-terminal pro BNP (NT pro-BNP, and osteoprotegerin (OPG and aortic disease in TS, and thus the data are only in proof-of-concept stages. Further meticulous longitudinal studies are required before BNP, NT pro-BNP, and OPG are used as vascular biomarkers for the detection of aortic disease in childhood and adolescent TS.

  7. Eagle syndrome : A comprehensive review

    NARCIS (Netherlands)

    Badhey, Arvind; Jategaonkar, Ameya; Kovacs, Alexander Joseph Anglin; Kadakia, Sameep; De Deyn, Peter Paul; Ducic, Yadranko; Schantz, Stimson; Shin, Edward

    The objective of this report is to summarize the symptoms, diagnostic workup, necessary imaging, and management of Eagle syndrome. A comprehensive literature review was conducted on peer-reviewed publications of Eagle syndrome across multiple disciplines in order to gain a thorough understanding of

  8. Application of Neural Networks for classification of Patau, Edwards, Down, Turner and Klinefelter Syndrome based on first trimester maternal serum screening data, ultrasonographic findings and patient demographics.

    Science.gov (United States)

    Catic, Aida; Gurbeta, Lejla; Kurtovic-Kozaric, Amina; Mehmedbasic, Senad; Badnjevic, Almir

    2018-02-13

    The usage of Artificial Neural Networks (ANNs) for genome-enabled classifications and establishing genome-phenotype correlations have been investigated more extensively over the past few years. The reason for this is that ANNs are good approximates of complex functions, so classification can be performed without the need for explicitly defined input-output model. This engineering tool can be applied for optimization of existing methods for disease/syndrome classification. Cytogenetic and molecular analyses are the most frequent tests used in prenatal diagnostic for the early detection of Turner, Klinefelter, Patau, Edwards and Down syndrome. These procedures can be lengthy, repetitive; and often employ invasive techniques so a robust automated method for classifying and reporting prenatal diagnostics would greatly help the clinicians with their routine work. The database consisted of data collected from 2500 pregnant woman that came to the Institute of Gynecology, Infertility and Perinatology "Mehmedbasic" for routine antenatal care between January 2000 and December 2016. During first trimester all women were subject to screening test where values of maternal serum pregnancy-associated plasma protein A (PAPP-A) and free beta human chorionic gonadotropin (β-hCG) were measured. Also, fetal nuchal translucency thickness and the presence or absence of the nasal bone was observed using ultrasound. The architectures of linear feedforward and feedback neural networks were investigated for various training data distributions and number of neurons in hidden layer. Feedback neural network architecture out performed feedforward neural network architecture in predictive ability for all five aneuploidy prenatal syndrome classes. Feedforward neural network with 15 neurons in hidden layer achieved classification sensitivity of 92.00%. Classification sensitivity of feedback (Elman's) neural network was 99.00%. Average accuracy of feedforward neural network was 89.6% and for

  9. Parsonage–Turner syndrome☆

    Science.gov (United States)

    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

  10. Health status in women with Turner syndrome: a questionnaire study on health status, education, work participation and aspects of sexual functioning.

    Science.gov (United States)

    Naess, Eva Elisabeth; Bahr, David; Gravholt, Claus H

    2010-05-01

    Turner syndrome (TS) is a complex medical condition with specific cognitive and psychosocial characteristics and frequent medical morbidity. Few studies have investigated the influence this has on health status, education and ability to work. To explore health status, level of education, work participation, medical conditions, physical activity, satisfaction with life and aspects of sexual functioning in adult TS women and compare with a matched control group. A questionnaire was sent to 168 adult women with TS >18 years registered in a database of Frambu Resource Centre for Rare Disorders and The TS Association in Norway. We assessed health status with Short Form 36, education with Norwegian Standard Classification of Education, and employment with The General Nordic Questionnaire. Life satisfaction was measured with LiSat-9, and questions on psychological strain during life phases were included. Eighty women with TS (34.0 +/- 11.7 years) and 214 controls (32.9 +/- 10.6) responded. The TS group reported significantly more health problems and impaired health status in the two subscales "physical functioning" and "general health" (P education and work participation was similar among TS and controls. TS moved away from their parents' home later than controls (20.4 +/- 4.0 vs. 18.7 +/- 2.1, P = 0.001). Age at sexual debut differed significantly (21.2 +/- 4.3 vs. 17.3 +/- 2.4 years, P education and level of employment as controls, they report more frequent occurrence of medical conditions, but scored lower on only two subscales in the SF-36. Despite considerable medical morbidity, TS seem to cope well with life.

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

    Science.gov (United States)

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

    2015-03-01

    Turner syndrome (TS) is the result of (partial) absence of one X-chromosome. Besides short stature, gonadal dysgenesis and other physical aspects, TS women have typical psychological features. Since psychological effects of androgen exposure in childhood probably are long-lasting, we explored long-term psychological functioning after oxandrolone (Ox) therapy during childhood in adults with TS in terms of neurocognition, quality of life and social-emotional functioning. During the initial study, girls were treated with growth hormone (GH) combined with placebo (Pl), Ox 0.03 mg/kg/day, or Ox 0.06 mg/kg/day from the age of eight, and estrogen from the age of twelve. Sixty-eight women participated in the current double-blinded follow-up study (mean age 24.0 years, mean time since stopping GH/Ox 8.7 years). We found no effects on neurocognition. Concerning quality of life women treated with Ox had higher anxiety levels (STAI 37.4 ± 8.4 vs 31.8 ± 5.0, p=0.002) and higher scores on the depression subscale of the SCL-90-R (25.7 ± 10.7 vs 20.5 ± 4.7, p=0.01). Regarding social-emotional functioning, emotion perception for fearful faces was lower in the Ox-treated patients, without effect on interpersonal behavior. Our exploratory study is the first to suggest that androgen treatment in adolescence possibly has long-term effects on adult quality of life and social-emotional functioning. However, differences are small and clinical implications of our results seem limited. Therefore we would not recommend against the use of Ox in light of psychological consequences. Copyright © 2014 Elsevier Inc. All rights reserved.

  12. 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

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    Hye Jin Lee

    2014-09-01

    Full Text Available PurposeWhether 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.MethodsPaternal (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.ResultsThe 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.ConclusionThere 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.

  13. Korsakoff's syndrome: A critical review

    NARCIS (Netherlands)

    Arts, N.J.M.; Walvoort, S.J.W.; Kessels, R.P.C.

    2017-01-01

    In this review, we present a survey on Korsakoff's syndrome (KS), a residual syndrome in patients who suffered from a Wernicke encephalopathy (WE) that is predominantly characterized by global amnesia, and in more severe cases also by cognitive and behavioral dysfunction. We describe the history of

  14. Fatores associados a atraso no diagnóstico da síndrome de Turner Investigación de factores asociados a retraso en el diagnóstico del síndrome de Turner Variables associated with diagnostic delay in Turner syndrome

    Directory of Open Access Journals (Sweden)

    Jamil Miguel Neto

    2011-03-01

    transversal con obtención de datos de los prontuarios de 29 pacientes diagnosticadas con ST mayores de 2 años de edad entre 2004 y 2007. Se compararon antecedentes personales y familiares y datos de examen físico de las pacientes diagnosticadas a una edad menor de 13 años (límite a partir del cual se puede caracterizar retraso puberal en niñas con los de aquellas diagnosticadas después de los 13 años mediante las pruebas t y chi-cuadrado. RESULTADOS: No hubo diferencias significativas respecto a la estatura materna y de la paciente misma, historial de afecciones asociadas (consideradas individualmente, escolaridad de los padres; recurrencia familiar de baja estatura, presencia de cada señal dismórfica aislada y total de señales observadas. Los dos grupos difirieron respecto a la presencia de al menos una afección sugestiva de ese síndrome (asociada al diagnóstico más temprano y al número de hermanos (mayor en el diagnóstico tardío y asociado a la menor escolaridad materna. CONCLUSIONES: El diagnóstico temprano se relacionó más a la presencia de alguna de las afecciones asociadas al ST (posiblemente determinando encaminamiento a servicios de mayor complejidad que a señales dismórficas. Hay indicaciones de que déficit de crecimiento menos evidente, dificultades de los médicos en reconocer anomalías sugestivas de ese síndrome y factores socioeconómicos contribuyan para el retraso en el diagnóstico. Es necesario enfatizar en la formación pediátrica el reconocimiento del espectro clínico de ese síndrome y ampliar los servicios públicos de genética.OBJECTIVE: To investigate the possible reasons for diagnostic delay in Turner syndrome (TS, i.e., a diagnosis made after the age when pubertal delay may be established. METHODS: Cross-sectional study with data obtained from the records of 29 TS patients aged more than two years who were diagnosed between 2004 and 2007. Data on personal and family history and physical examination from patients diagnosed

  15. Anti-Müllerian hormone levels in girls and adolescents with Turner syndrome are related to karyotype, pubertal development and growth hormone treatment.

    Science.gov (United States)

    Visser, Jenny A; Hokken-Koelega, Anita C S; Zandwijken, Gladys R J; Limacher, Andreas; Ranke, Michael B; Flück, Christa E

    2013-07-01

    In girls and adolescents with Turner syndrome (TS), is there a correlation between serum AMH levels and karyotype, spontaneous puberty and other biochemical markers of ovarian function, or growth hormone (GH) therapy? Serum anti-Müllerian hormone (AMH) correlates with karyotype, pubertal development, LH, FSH and are measurable in a higher percentage of TS patients under GH therapy. Most girls with TS suffer from incomplete sexual development, premature ovarian failure and infertility due to abnormal ovarian folliculogenesis. Serum AMH levels reflect the ovarian reserve in females, even in childhood. Cross-sectional study investigating 270 karyotype proven TS patients aged 0-20 years between 2009 and 2010. Studies were conducted at three University Children's hospitals in Europe. Main outcome measures were clinical data concerning pubertal development as well as laboratory data including karyotype, serum AMH, LH, FSH, estradiol (E2), inhibin B and IGF. RESULTS AND THE ROLE OF CHANCE: Serum AMH was detectable in 21.9% of all TS girls and correlated strongly with karyotypes. A measurable serum AMH was found in 77% of TS girls with karyotype 45,X/46,XX, in 25% with 'other' karyotypes and in only 10% of 45,X TS girls. A strong relationship was also observed for measurable serum AMH and signs of spontaneous puberty such as breast development [adjusted odds ratio (OR) 19.3; 95% CI 2.1-175.6; P = 0.009] and menarche (crude OR 47.6; 95% CI 4.8-472.9; P = 0.001). Serum AMH correlated negatively with FSH and LH, but did not correlate with E2 and inhibin B. GH therapy increased the odds of having measurable AMH in TS (adjusted OR 4.1; 95% CI 1.9-8.8; P < 0.001). The cross-sectional design of the study does not allow longitudinal interpretation of the data; for that further studies are needed. High percentage of non-measurable AMH levels in the cohort of TS require categorized analysis.

  16. Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone

    Directory of Open Access Journals (Sweden)

    Van Vliet Guy

    2011-05-01

    Full Text Available Abstract Background There are limited long-term randomized controlled trials of growth hormone (GH supplementation to adult height and few published reports of the health-related quality of life (HRQOL following treatment. The present follow-up study of young adults from a long-term controlled trial of GH treatment in patients with Turner syndrome (TS yielded data to examine whether GH supplementation resulted in a higher HRQOL (either due to taller stature or from the knowledge that active treatment and not placebo had been received or alternatively a lower HRQOL (due to medicalization from years of injections. Methods The original trial randomized 154 Canadian girls with TS aged 7-13 years from 13 centres to receive either long-term GH injections at the pharmacologic dose of 0.3 mg/kg/week or to receive no injections; estrogen prescription for induction of puberty was standardized. Patients were eligible for the follow-up study if they were at least 16 years old at the time of follow-up. The instrument used to study HRQOL was the SF-36, summarized into physical and mental component scales (PCS and MCS; higher scores indicate better HRQOL. Results Thirty-four of the 48 eligible participants (71% consented to participate; data were missing for one patient. Both groups (GH and no treatment had normal HRQOL at this post-treatment assessment. The GH group had a (mean ± SD PCS score of 56 ± 5; the untreated group 58 ± 4; mean score for 16-24 year old females in the general population 53.5 ± 6.9. The GH group had a mean MCS score of 52 ± 6; the untreated group 49 ± 13; mean score for 16-24 year old females in the general population 49.6 ± 9.8. Secondary analyses showed no relationship between HRQOL and height. Conclusions We found no benefit or adverse effect on HRQOL either from receiving or not receiving growth hormone injections in a long-term randomized controlled trial, confirming larger observational studies. We suggest that it remains

  17. Lynch Syndrome: An Updated Review

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    Rishabh Sehgal

    2014-06-01

    Full Text Available Lynch syndrome is one of the most common cancer susceptibility syndromes. Individuals with Lynch syndrome have a 50%–70% lifetime risk of colorectal cancer, 40%–60% risk of endometrial cancer, and increased risks of several other malignancies. It is caused by germline mutations in the DNA mismatch repair genes MLH1, MSH2, MSH6 or PMS2. In a subset of patients, Lynch syndrome is caused by 3' end deletions of the EPCAM gene, which can lead to epigenetic silencing of the closely linked MSH2. Relying solely on age and family history based criteria inaccurately identifies eligibility for Lynch syndrome screening or testing in 25%–70% of cases. There has been a steady increase in Lynch syndrome tumor screening programs since 2000 and institutions are rapidly adopting a universal screening approach to identify the patients that would benefit from genetic counseling and germline testing. These include microsatellite instability testing and/or immunohistochemical testing to identify tumor mismatch repair deficiencies. However, universal screening is not standard across institutions. Furthermore, variation exists regarding the optimum method for tracking and disclosing results. In this review, we summarize traditional screening criteria for Lynch syndrome, and discuss universal screening methods. International guidelines are necessary to standardize Lynch syndrome high-risk clinics.

  18. Eagle syndrome. A narrative review

    Directory of Open Access Journals (Sweden)

    Heber Arbildo

    2016-09-01

    Full Text Available Painful disorders in the maxillofacial region are common in dental practice. Most of these conditions are not properly diagnosed because of inadequate knowledge of craniofacial and cervico-pharyngeal syndromes such as Eagle Syndrome. The aim of this review is to describe the general aspects, diagnosis and treatment of Eagle syndrome. Eagle syndrome or stylohyoid syndrome was first described by Watt W. Eagle in 1937. It was defined as orofacial pain related to the elongation of the styloid process and ligament stylohyoid calcification. The condition is accompanied by symptoms such as dysphonia, dysphagia, sore throat, glossitis, earache, tonsillitis, facial pain, headache, pain in the temporomandibular joint and inability to perform lateral movements of the neck. Diagnosis and treatment of Eagle syndrome based on symptoms and radiographic examination of the patient will determine the need for surgical or nonsurgical treatment. Eagle syndrome is a complex disorder demanding a thorough knowledge of its signs and symptoms to make a correct diagnosis and provide an appropriate subsequent treatment. Disseminating information about this syndrome among medical-dental professionals is essential to provide adequate dental care to patients.

  19. Dhat syndrome: a systematic review.

    Science.gov (United States)

    Udina, Marc; Foulon, Hubert; Valdés, Manuel; Bhattacharyya, Sagnik; Martín-Santos, Rocío

    2013-01-01

    Dhat syndrome is a widely recognized clinical condition often seen on the Indian subcontinent that is characterized by a preoccupation with semen loss in urine and other symptoms such as fatigue or depressed mood. Although it has been considered to be a culture-bound syndrome, it may also be regarded as a distinct manifestation of depression or another medical illness. The purpose of this paper was to carry out a systematic review on Dhat syndrome. A review of the literature published up until February 2012 was conducted using the key words [Dhat syndrome] or [semen-loss anxiety] or [semen-loss syndrome]. We included only original studies. The majority of studies reported patients from the Indian subcontinent. There was a high degree of heterogeneity among the studies. Dhat was a common condition in young people from certain cultures and origins. Depressive and anxiety symptoms were common, including fatigue, sleepiness, and sexual dysfunction. Good clinical engagement, social support, and sexual education were useful in some cases. Given the high rate of comorbid depressive symptoms, antidepressant has been used. In an increasingly globalized world, clinicians must be able to properly diagnose and treat patients from other cultures, who may report symptoms that are influenced by their beliefs, culture, or place of origin. Dhat may be a common manifestation of a depressive or anxiety disorder in certain cultures. Further research is needed to improve our understanding of this condition, to clarify its nosologic status, and to offer appropriate treatment to affected individuals. Copyright © 2013 The Academy of Psychosomatic Medicine. Published by Elsevier Inc. All rights reserved.

  20. Tourette syndrome: Review of literature

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    Teixeira, Larissa Lane Cardoso

    2011-10-01

    Full Text Available Introduction: Tourette Syndrome (TS was described for the first time in 1825, and it is a neuropsychiatry disease, initially begins in childhood, affects more males, characterized by remarkable social and psychological commitment, impacting the lives of patients and family. Until recently, this disease were considered a rare condition, but current studies show that the prevalence rate may vary in 1% to 2,9% in a few groups. Objective: Perform a review of literature over the main aspects related to Tourette syndrome. Data synthesis: The TS is a genetic disorder, associated with neuroanatomical and neurophysiological alterations, characterized by compulsive phenomenon, whose etiology is still unknown. The clinical profile is composed, mostly, by motor tics and vocal tics, that which are divided in simple and complex. Its association with Obssessive Compulsive Disorder and Attention Deficit Hyperactivity Disorder is very commom. The diagnosis is mainly clinical and do not exist. Until now, there is no specific laboratory test that confirm this pathology. The treatment is based mainly on psychological theory. However when there is need for the use of drugs, the most widely used are the antagonists of dopamine receptors. Conclusion: The TS causes many damages as psychosocial and educational for the individual and the family. However, the diagnosis and the early treatment are able to minimize or cancel this damages. This way, knowing the general aspects that guide the TS is of utmost importance to preserve the quality of life for the patients with the disease.

  1. Diagnóstico da Síndrome de Turner: a experiência do Instituto Estadual de Diabetes e Endocrinologia - Rio de Janeiro, de 1970 a 2008 Diagnosis of Turner's Syndrome: the experience of the Rio de Janeiro State Institute of Diabetes and Endocrinology between 1970 and 2008

    Directory of Open Access Journals (Sweden)

    Monica de Paula Jung

    2010-03-01

    Full Text Available OBJETIVOS: descrever a experiência no diagnóstico da Síndrome de Turner (ST, focalizando a distribuição dos cromossomos, a idade, os sinais e sintomas característicos, conforme as fases da vida (lactância, infância, adolescência e adulta. MÉTODOS: estudo descritivo com 178 pacientes, atendidos de 1970 até 2008. Para análise estatística das diferenças percentuais usou-se o Epi-Info-2000 e para as diferenças entre as médias de idades o teste t de Student e o ANOVA. RESULTADOS: os cariótipos encontrados foram: 79 com 45,X (35,4%, 36 com isocromossomo Xq (20,2% e 63 com outros mosaicos (35,4%. A média de idade do diagnóstico foi de 12,6 anos, sendo menor naquelas com 45,X. Tiveram o diagnóstico feito na lactância 11,3% das pacientes, 25,3% na infância, 51,1% na adolescência e 12,4% na fase adulta. Daquelas diagnosticadas antes dos cinco anos de idade, 70,6% apresentaram 45,X. Os sinais que levaram à suspeita diagnóstica na lactância foram o pescoço alado e o linfedema congênito de pés/mãos associados às dismorfias típicas; na infância e adolescência foi a baixa estatura. Cubitus valgus foi encontrado em 72,5% das pacientes e orelhas anômalas em 65% das pacientes diagnosticadas com menos de um ano de idade. CONCLUSÃO: o diagnóstico da ST é desnecessariamente atrasado, levando-se em consideração que algumas características típicas podem já estar presentes desde o nascimento.OBJECTIVES: to describe the Rio de Janeiro State Institute of Diabetes and Endocrinology's experience in diagnosing Turner Syndrome (TS, focusing on the distribution of chromosomes, age, and typical signs and symptoms, according to life stage (breast feeding, childhood, adolescence and adulthood. METHODS: a descriptive study was conducted of 178 patients, attending the Institute between 1970 and 2008 for the purposes of statistical analysis of the percentage differences using Epi-Info-2000 and of the differences between the mean ages using

  2. [Rapunzel syndrome: case report and literature review].

    Science.gov (United States)

    Curioso Vilchez, Walter H; Rivera Vega, Juan; Curioso Abriojo, Walter I

    2002-01-01

    The Rapunzel syndrome is a rare form of gastric trichobezoar crossing the pylorus and extending throughout the bowel. The case of a 22-year-old Peruvian woman is reported. This is the thirteenth patient with Rapunzel syndrome reported in the literature. The epidemiology, clinical manifestations, diagnosis and treatment are briefly reviewed.

  3. Computer vision syndrome: A review.

    Science.gov (United States)

    Gowrisankaran, Sowjanya; Sheedy, James E

    2015-01-01

    Computer vision syndrome (CVS) is a collection of symptoms related to prolonged work at a computer display. This article reviews the current knowledge about the symptoms, related factors and treatment modalities for CVS. Relevant literature on CVS published during the past 65 years was analyzed. Symptoms reported by computer users are classified into internal ocular symptoms (strain and ache), external ocular symptoms (dryness, irritation, burning), visual symptoms (blur, double vision) and musculoskeletal symptoms (neck and shoulder pain). The major factors associated with CVS are either environmental (improper lighting, display position and viewing distance) and/or dependent on the user's visual abilities (uncorrected refractive error, oculomotor disorders and tear film abnormalities). Although the factors associated with CVS have been identified the physiological mechanisms that underlie CVS are not completely understood. Additionally, advances in technology have led to the increased use of hand-held devices, which might impose somewhat different visual challenges compared to desktop displays. Further research is required to better understand the physiological mechanisms underlying CVS and symptoms associated with the use of hand-held and stereoscopic displays.

  4. Restless legs syndrome: literature review

    Directory of Open Access Journals (Sweden)

    Emmanouil Symvoulakis

    Full Text Available Restless legs syndrome is a distressing condition, with negative effects on sleep and daytime activities that affect personal, family and occupational life. The overall impact of restless legs syndrome on quality of life is comparable to that of chronic and frustrating conditions such as depression and diabetes. Misdiagnosis and inappropriate treatment may increase patients' suffering in terms of uncertainty, overuse or misuse of care services and lack of trust. Presenting a synthesis of the main topics in the literature on restless legs syndrome facilitates for a better understanding and its management in primary care settings.

  5. The interactive effect of GHR-exon 3 and -202 A/C IGFBP3 polymorphisms on rhGH responsiveness and treatment outcomes in patients with Turner syndrome.

    Science.gov (United States)

    Braz, Adriana F; Costalonga, Everlayny F; Montenegro, Luciana R; Trarbach, Ericka B; Antonini, Sonir R R; Malaquias, Alexsandra C; Ramos, Ester S; Mendonca, Berenice B; Arnhold, Ivo J P; Jorge, Alexander A L

    2012-04-01

    There is great interindividual variability in the response to recombinant human (rh) GH therapy in patients with Turner syndrome (TS). Ascertaining genetic factors can improve the accuracy of growth response predictions. The objective of the study was to assess the individual and combined influence of GHR-exon 3 and -202 A/C IGFBP3 polymorphisms on the short- and long-term outcomes of rhGH therapy in patients with TS. GHR-exon 3 and -202 A/C IGFBP3 genotyping (rs2854744) was correlated with height data of 112 patients with TS who remained prepubertal during the first year of rhGH therapy and 65 patients who reached adult height after 5 ± 2.5 yr of rhGH treatment. First-year growth velocity and adult height were measured. Patients carrying at least one GHR-d3 or -202 A-IGFBP3 allele presented higher mean first-year growth velocity and achieved taller adult heights than those homozygous for GHR-fl or -202 C-IGFBP3 alleles, respectively. The combined analysis of GHR-exon 3 and -202 A/C IGFBP3 genotypes showed a clear nonadditive epistatic influence on adult height of patients with TS treated with rhGH (GHR-exon 3 alone, R² = 0.27; -202 A/C IGFBP3, R² = 0.24; the combined genotypes, R² = 0.37 at multiple linear regression). Together with clinical factors, these genotypes accounted for 61% of the variability in adult height of patients with TS after rhGH therapy. Homozygosity for the GHR-exon3 full-length allele and/or the -202C-IGFBP3 allele are associated with less favorable short- and long-term growth outcomes after rhGH treatment in patients with TS.

  6. Kleine-Levin syndrome: a review

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    Guilleminault C

    2014-01-01

    Full Text Available Mitchell G Miglis, Christian Guilleminault Stanford University Sleep Medicine Division, Stanford Outpatient Medical Center, Redwood City, CA, USA Abstract: Kleine-Levin syndrome is a recurrent hypersomnia associated with symptoms of hyperphagia, hypersexuality, and cognitive impairment. This article reviews the current available research and describes common clinical symptoms, differential diagnosis, and acceptable workup and treatment. Although deficits have traditionally been thought to resolve between episodes, functional imaging studies and long-term neuropsychological testing in select patients have recently challenged this notion. This may suggest that Kleine-Levin syndrome is not as benign as previously considered. Keywords: Kleine-Levin syndrome, hypersomnia, adolescent sleep disorder, hypersexuality

  7. Kounis syndrome: a narrative review

    African Journals Online (AJOL)

    mast cell degranulation and aggravate allergic reactions. Fentanyl and its derivatives (with minimal mast cell activation) may be better-suited narcotic analgesics. ... be an important future therapeutic option for Kounis syndrome. Controversies regarding adrenaline. The use of adrenaline in anaphylaxis is based on a century ...

  8. Características clínicas e citogenéticas da síndrome de Turner na região Centro-Oeste do Brasil Clinical and cytogenetic aspects of the Turner syndrome in the Brazilian Western region

    Directory of Open Access Journals (Sweden)

    Claudinéia de Araújo

    2010-08-01

    Full Text Available OBJETIVO: examinar a associação entre características citogenéticas e alterações clínicas em pacientes com síndrome de Turner (ST. MÉTODOS: Foram incluídas 42 pacientes. Os dados clínicos foram colhidos e registrados em formulário padronizado com entrevista do responsável e, quando possível, com a própria paciente, seguido de exame físico detalhado. A associação entre cariótipo e intercorrências clínicas foram examinadas pelo teste do χ2. RESULTADOS: Das pacientes, 64% tinham cariótipo 45,X; 26,2% 45,X/46,X; 7% 45,X/46Xi(Xq e 2,3% 45,X/46,X,Del(Xq. Independentemente do cariótipo, 100% das pacientes apresentaram baixa estatura. A implantação baixa dos cabelos foi mais frequente nas pacientes com cariótipo 45,X (p=0,03. Anomalias cardiovasculares (45%, otites (43%, disfunção da tireoide (33% e hipertensão arterial (26,6% foram as alterações clínicas mais frequentes e não mostraram correlação com o cariótipo. A avaliação de medidas antropométricas revelou correlação positiva entre a idade e o diâmetro da cintura e quadril (r=0,9; p=0,01. Trinta e uma pacientes (74% faziam ou tinham feito uso de medicamentos, sendo que hormônio de crescimento (43%, esteroides sexuais (30%, tiroxina (11,9% e oxandrolona (9,5% foram os mais utilizados. A comparação da idade da gestação no momento em que ocorreu o parto com dificuldade no aprendizado mostrou razão de prevalência de 1,71 (p>0,05. CONCLUSÃO: a implantação baixa dos cabelos é o estigma mais prevalente nas pacientes com cariótipo 45,X e as alterações clínicas mais comuns são as cardiovasculares, otites, hipertensão arterial e disfunções tireoidianas, porém não apresentam correlação com o cariótipo.PURPOSE: to examine the association between cytogenetic characteristics and clinical and epidemiological changes in patients with Turner syndrome (TS. METHODS: Forty-two patients were included. Data were collected using a standardized

  9. What is Down Syndrome?

    Science.gov (United States)

    ... Research Information Find a Study Resources and Publications Turner Syndrome Condition Information NICHD Research Information Find a ... years today. 4 Down syndrome is named after John Langdon Down, the first physician to describe the ...

  10. Kleine-Levin syndrome: a review

    OpenAIRE

    Miglis, Mitchell G; Guilleminault, Christian

    2014-01-01

    Mitchell G Miglis, Christian Guilleminault Stanford University Sleep Medicine Division, Stanford Outpatient Medical Center, Redwood City, CA, USA Abstract: Kleine-Levin syndrome is a recurrent hypersomnia associated with symptoms of hyperphagia, hypersexuality, and cognitive impairment. This article reviews the current available research and describes common clinical symptoms, differential diagnosis, and acceptable workup and treatment. Although deficits have traditionally been thought to re...

  11. Rett Syndrome: A Review of Current Knowledge.

    Science.gov (United States)

    Van Acker, Rick

    1991-01-01

    This review describes Rett syndrome as a disorder afflicting females and characterized by a progressive loss of cognitive and motor skills and development of stereotypic hand movements. The paper discusses its clinical manifestations, etiology, diagnostic criteria and differential diagnosis, prevalence, pathogenesis, treatment, and educational…

  12. Grey-Turner's sign in sclerosing peritonitis

    NARCIS (Netherlands)

    Stouthard, J. M.; Krediet, R. T.; Arisz, L.

    1989-01-01

    A 41-year-old CAPD patient developed Grey-Turner's sign during the course of bacterial peritonitis due to Pseudomonas aeruginosa. At the same time a diagnosis of sclerosing peritonitis was made by CT-scanning of the abdomen. We think that Grey-Turner's flank staining could either have been caused by

  13. Proximal aortic stiffening in Turner patients may be present before dilation can be detected: a segmental functional MRI study.

    Science.gov (United States)

    Devos, Daniel G H; De Groote, Katya; Babin, Danilo; Demulier, Laurent; Taeymans, Yves; Westenberg, Jos J; Van Bortel, Luc; Segers, Patrick; Achten, Eric; De Schepper, Jean; Rietzschel, Ernst

    2017-02-13

    To study segmental structural and functional aortic properties in Turner syndrome (TS) patients. Aortic abnormalities contribute to increased morbidity and mortality of women with Turner syndrome. Cardiovascular magnetic resonance (CMR) allows segmental study of aortic elastic properties. We performed Pulse Wave Velocity (PWV) and distensibility measurements using CMR of the thoracic and abdominal aorta in 55 TS-patients, aged 13-59y, and in a control population (n = 38;12-58y). We investigated the contribution of TS on aortic stiffness in our entire cohort, in bicuspid (BAV) versus tricuspid (TAV) aortic valve-morphology subgroups, and in the younger and older subgroups. Differences in aortic properties were only seen at the most proximal aortic level. BAV Turner patients had significantly higher PWV, compared to TAV Turner (p = 0.014), who in turn had significantly higher PWV compared to controls (p = 0.010). BAV Turner patients had significantly larger ascending aortic (AA) luminal area and lower AA distensibility compared to both controls (all p Turner patients. TAV Turner had similar AA luminal areas and AA distensibility compared to Controls. Functional changes are present in younger and older Turner subjects, whereas ascending aortic dilation is prominent in older Turner patients. Clinically relevant dilatation (TAV and BAV) was associated with reduced distensibility. Aortic stiffening and dilation in TS affects the proximal aorta, and is more pronounced, although not exclusively, in BAV TS patients. Functional abnormalities are present at an early age, suggesting an aortic wall disease inherent to the TS. Whether this increased stiffness at young age can predict later dilatation needs to be studied longitudinally.

  14. Antenatal Bartter Syndrome: A Review

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    Y. Ramesh Bhat

    2012-01-01

    Full Text Available Antenatal Bartter syndrome (ABS is a rare autosomal recessive renal tubular disorder. The defective chloride transport in the loop of Henle leads to fetal polyuria resulting in severe hydramnios and premature delivery. Early onset, unexplained maternal polyhydramnios often challenges the treating obstetrician. Increasing polyhydramnios without apparent fetal or placental abnormalities should lead to the suspicion of this entity. Biochemical analysis of amniotic fluid is suggested as elevated chloride level is usually diagnostic. Awareness, early recognition, maternal treatment with indomethacin, and amniocentesis allow the pregnancy to continue. Affected neonates are usually born premature, have postnatal polyuria, vomiting, failure to thrive, hypercalciuria, and subsequently nephrocalcinosis. Hypokalemia, metabolic alkalosis, secondary hyperaldosteronism and hyperreninaemia are other characteristic features. Volume depletion due to excessive salt and water loss on long term stimulates renin-angiotensin-aldosterone system resulting in juxtaglomerular hyperplasia. Clinical features and electrolyte abnormalities may also depend on the subtype of the syndrome. Prenatal diagnosis and timely indomethacin administration prevent electrolyte imbalance, restitute normal growth, and improve activity. In this paper, authors present classification, pathophysiology, clinical manifestations, laboratory findings, complications, and prognosis of ABS.

  15. Quadrilateral space syndrome: a review.

    Science.gov (United States)

    Flynn, Lindsay S; Wright, Thomas W; King, Joseph J

    2017-12-20

    Quadrilateral space (QS) syndrome (QSS) is a relatively rare condition in which the axillary nerve and the posterior humeral circumflex artery are compressed within the QS. Fibrous bands are most commonly implicated as the cause, with true space-occupying lesions being less common. QSS is characterized by poorly localized shoulder pain and paresthesia over the lateral aspect of the shoulder and arm in a nondermatomal pattern. These symptoms are aggravated by shoulder abduction and external rotation. Point tenderness is typically present over the QS; however, diagnosis on physical examination can be difficult. Pain relief after lidocaine block of the axillary nerve within the QS is a useful finding in the evaluation of patients with suspected QSS. No definitive diagnostic imaging exists, making diagnosis difficult, although radiographs and magnetic resonance imaging are recommended to rule out other pathology. Nonoperative treatment, including nonsteroidal anti-inflammatory drugs, activity modification, and physical therapy, for at least 6 months is recommended before pursuing operative intervention. Small case series have shown that surgical decompression of the QS has good outcomes, with resolution of pain and return to sport. Published by Elsevier Inc.

  16. Cri du chat syndrome: a critical review.

    Science.gov (United States)

    Rodríguez-Caballero, Angela; Torres-Lagares, Daniel; Rodríguez-Pérez, Antonio; Serrera-Figallo, María-Angeles; Hernández-Guisado, José-María; Machuca-Portillo, Guillermo

    2010-05-01

    A new syndrome was identified in 1963, when Lejeune et al. reported a genetic disease resulting from a partial or total deletion on the short arm of chromosome 5 (5p-) and named it the cri du chat syndrome (CdCS). This term makes reference to the main clinical feature of the syndrome, a high-pitched monochromatic cat-like crying, that usually disappears in the first years of life. CdCS is one of the most common chromosomal deletion syndromes in humans, with an incidence of 1:15.000-1:50.000 live-births. Our purpose was to review different aspects of this syndrome (concept, epidemiology, aetiology, clinical features, diagnostic methods and prognosis) emphasizing both: the breakthrough in this field introduced by new cytogenetic and molecular techniques, and the orofacial manifestations most frequently reported. The main orofacial anomalies registered were mandibular microretrognathia, high palate but rarely cleft, variable malocclusion (frequently anterior open-bite), enamel hypoplasia, poor oral hygiene, generalized chronic periodontitis, and retardation of tooth eruption, although there is not enough evidence to support any clear association between these pathologies and the CdCS.

  17. Metabolic syndrome and male infertility (review

    Directory of Open Access Journals (Sweden)

    I. A. Tyuzikov

    2014-11-01

    Full Text Available The literary review is devoted to one of the most actual problems of modern andrology – pathogenetic communication of metabolic syndrome components and male infertility. Now a steady growth of metabolic syndrome frequency in world men population is observed, and that is accompanied by progressing deterioration of fertility parameters at them. Negative influence of key metabolic syndrome components – obesity and insulin resistance – at male reproductive function is shown on the basis of modern clinical, epidemiological and experimental data, and known pathophysiological mechanisms of this influence are described also. Induced by a metabolic syndrome oxidative stress of spermatozoas, neuropathy and androgen deficiency are the most significant mechanisms of neuro-endocrinological and reproductive consequences realization. The imperative necessity of early revealing and pharmacological correction of obesity and insulin resistance in all infertility men is shown, as well as they are curable reasons of male infertility . However, they seldom come to light and even less often corrected in routine clinical practice owing to insufficient knowledge of urologists and andrologists about these system hormonal-metabolic factors of male infertility, which role in male infertility pathogenesis will increase only in the conditions of world epidemic of a metabolic syndrome.

  18. Metabolic syndrome and male infertility (review

    Directory of Open Access Journals (Sweden)

    I. A. Tyuzikov

    2013-01-01

    Full Text Available The literary review is devoted to one of the most actual problems of modern andrology – pathogenetic communication of metabolic syndrome components and male infertility. Now a steady growth of metabolic syndrome frequency in world men population is observed, and that is accompanied by progressing deterioration of fertility parameters at them. Negative influence of key metabolic syndrome components – obesity and insulin resistance – at male reproductive function is shown on the basis of modern clinical, epidemiological and experimental data, and known pathophysiological mechanisms of this influence are described also. Induced by a metabolic syndrome oxidative stress of spermatozoas, neuropathy and androgen deficiency are the most significant mechanisms of neuro-endocrinological and reproductive consequences realization. The imperative necessity of early revealing and pharmacological correction of obesity and insulin resistance in all infertility men is shown, as well as they are curable reasons of male infertility . However, they seldom come to light and even less often corrected in routine clinical practice owing to insufficient knowledge of urologists and andrologists about these system hormonal-metabolic factors of male infertility, which role in male infertility pathogenesis will increase only in the conditions of world epidemic of a metabolic syndrome.

  19. Alagille syndrome: Review of 14 patients

    OpenAIRE

    Purnamawati S. Pujiarto; Arnold L. Smith

    2017-01-01

    Alagille syndrome (AGS) Is a common form of familial intrahepatic choleslasis, an autosomal dominant disorder due to defects in Jagged1 gene. It Is characterized by at least 3 of 5 mator features. We reviewed two groups of patients with AGS. Group 1 comprised 12 AGS patients, retrospectively studied (1995-1996), in the Gastroenterology Department, Royal Children's Hospital, Melbourne. Group 2 comprised 2 AGS patients, prospectively studied since 1999, in The Pediatric Hepatology Division, Cip...

  20. Asperger Syndrome In Adulthood: A Review

    Directory of Open Access Journals (Sweden)

    Ali Tufan

    2011-09-01

    Full Text Available Asperger’s syndrome (AS is one of the disorders classified under pervasive developmental disorders. Individuals with AS have problems in social interaction, unusual special interests, and a tendency to ritualized behavior. AS is a chronic disorder that affects the social, occupational, sexual and psychological functionality of individiuals with AS. This review was prepared on the basis of a selective literature review by Pubmed and information in relevant reference books. As a result, longitudinal studies are deemed to be necessary to be able understand the features of AS in adulthood.

  1. Tourette Syndrome: A Mini-Review

    OpenAIRE

    Michal Novotny; Martin Valis; Blanka Klimova; Blanka Klimova

    2018-01-01

    The purpose of this mini-review is to provide the latest information on epidemiology, pathophysiology, diagnosis, and treatment of Tourette syndrome (TS). The authors conducted a literature search of available sources describing the issue of tic disorders with special focus on TS and made a comparison and evaluation of relevant findings. The results of this mini-review indicate that TS is a complex disorder, which has a significant impact on the quality of life of both the patients and his/he...

  2. Rett Syndrome: A Comprehensive Review of the Literature.

    Science.gov (United States)

    Perry, Adrienne

    1991-01-01

    This nontechnical review of the literature on Rett Syndrome, a developmental disability found only in females, examines the syndrome's history, diagnostic criteria, clinical stages, incidence, differential diagnosis, etiology, genetics, treatment approaches, and prognosis. (Author/DB)

  3. Ortner's syndrome: case series and literature review.

    Science.gov (United States)

    Subramaniam, Vijayalakshmi; Herle, Adarsha; Mohammed, Navisha; Thahir, Muhammad

    2011-01-01

    More than a century ago, Ortner described a case of cardiovocal syndrome wherein he attributed a case of left vocal fold immobility to compression of the recurrent laryngeal nerve by a dilated left atrium in a patient with mitral valve stenosis. Since then, the term Ortner's syndrome has come to encompass any nonmalignant, cardiac, intrathoracic process that results in embarrassment of either recurrent laryngeal nerve-usually by stretching, pulling, or compression; and causes vocal fold paralysis. Not surprisingly, the left recurrent laryngeal nerve, with its longer course around the aortic arch, is more frequently involved than the right nerve, which passes around the subclavian artery. To discuss the pathogenesis of hoarseness resulting from cardiovascular disorders involving the recurrent laryngeal nerve along with the findings of literature review. This paper reports a series of four cases of Ortner's syndrome occurring due to different causes. Case study. Ortner's syndrome could be a cause of hoarseness of voice in patients with cardiovascular diseases. Although hoarseness of voice is frequently encountered in the Otolaryngology outpatient department, cardiovascular- related hoarseness is an unusual presentation. Indirect laryngoscopy should be routinely performed in all cases of heart disease.

  4. A Comprehensive Review on Metabolic Syndrome

    Directory of Open Access Journals (Sweden)

    Jaspinder Kaur

    2014-01-01

    Full Text Available Metabolic syndrome is defined by a constellation of interconnected physiological, biochemical, clinical, and metabolic factors that directly increases the risk of cardiovascular disease, type 2 diabetes mellitus, and all cause mortality. Insulin resistance, visceral adiposity, atherogenic dyslipidemia, endothelial dysfunction, genetic susceptibility, elevated blood pressure, hypercoagulable state, and chronic stress are the several factors which constitute the syndrome. Chronic inflammation is known to be associated with visceral obesity and insulin resistance which is characterized by production of abnormal adipocytokines such as tumor necrosis factor α, interleukin-1 (IL-1, IL-6, leptin, and adiponectin. The interaction between components of the clinical phenotype of the syndrome with its biological phenotype (insulin resistance, dyslipidemia, etc. contributes to the development of a proinflammatory state and further a chronic, subclinical vascular inflammation which modulates and results in atherosclerotic processes. Lifestyle modification remains the initial intervention of choice for such population. Modern lifestyle modification therapy combines specific recommendations on diet and exercise with behavioural strategies. Pharmacological treatment should be considered for those whose risk factors are not adequately reduced with lifestyle changes. This review provides summary of literature related to the syndrome’s definition, epidemiology, underlying pathogenesis, and treatment approaches of each of the risk factors comprising metabolic syndrome.

  5. Turner Syndrome: A Guide for Families

    Science.gov (United States)

    ... healthy, age-appropriate sexuality (in the context of personal family values) is important to create the foundation for dating ... and promotion of coping skills is very important. Career counseling and preparation for ... Encourage personal responsibility for her locker or cubby, her room, ...

  6. What Are the Symptoms of Turner Syndrome?

    Science.gov (United States)

    ... a Program Officer Forms Clinical Research Newsroom News Digital Media Join NICHD Listservs About NICHD Organization History Accomplishments Leadership & Other Staff Profiles Budget & Appropriations Advisory Groups Jobs ...

  7. Complex regional pain syndrome: A review

    Directory of Open Access Journals (Sweden)

    Ghai Babita

    2004-10-01

    Full Text Available Complex regional pain syndrome (CRPS is a challenging neuropathic pain state, quite difficult to comprehend and treat. Its pathophysiological mechanisms are unclear and its treatment is difficult. Multiple factors play a role in the generation and maintenance of CRPS. A close interdisciplinary collaboration amongst the psychologist, physical and occupational therapists, neurologist and pain medicine consultants is necessary to achieve optimal treatment effects. The primary goals of managing patients with this syndrome are to: 1 perform a comprehensive diagnostic evaluation, 2 be prompt and aggressive in treatment interventions, 3 assess and reassess the patient's clinical and psychological status, 4 be consistently supportive, and 5 strive for the maximal amount of pain relief and functional improvement. This article reviews the different aspects of CRPS including definition, classification, epidemiology and natural history, clinical presentation, pathophysiology and management.

  8. The Hyperimmunoglobulinemia E Syndromes: A Literature Review

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    Slavica Hristomanova

    2013-12-01

    Full Text Available The hyper-immunoglobulin E (IgE syndromes (HIES are primary immunodeficiencies characterized by the recurrent staphylococcal abscesses, recurrent pneumonia and highly elevated serum IgE levels. There are two forms of HIES: a dominant form (AD-HIES and a recessive form (AR-HIES. AD form of HIES is caused by mutations in STAT3 and the AR form is caused by mutations in DOCK8 and TYK2. These syndromes have different clinical presentations and outcomes. AD-HIES is a multisystem disorder that includes abnormalities of the skin, lungs, musculo-skeletal system and dental system. In contrast, these symptoms in patients with AR-HIES are missing. AR-HIES patients have severe viral infections and may develop neurological complications. This review article discusses the clinical presentation and laboratory findings in both forms of HIES, as well as the establishment of diagnose, inheritance, molecular genetics and immunological abnormalities of HIES.

  9. Cockayne's syndrome: a case report. Literature review.

    Science.gov (United States)

    Arenas-Sordo, María de la Luz; Hernández-Zamora, Edgar; Montoya-Pérez, Luis Alberto; Aldape-Barrios, Beatriz Catalina

    2006-05-01

    Cockayne s syndrome is a genetic disorder with a recessive autosomal inheritance, described first by Cockayne in 1936. Patients with this syndrome present failure to thrive, short stature, premature aging, neurological alterations, photosensitivity, delayed eruption of the primary teeth, congenitally absent of some permanent teeth, partial macrodontia, atrophy of the alveolar process and caries. It could be caused by two gene mutations, CNK1 (ERCC8) and ERCC6, located on the 5 and 10 chromosomes respectively, causing two variations of Cockayne s syndrome, CS-A, secondary to a ERCC8 mutation and CS-B with ERCC6 mutation, the last one causes hypersensitivity to the ultraviolet light secondary to a DNA repair defect. The syndrome is also associated with mutations of the XPB, XPD and XPG genes. In this report we present a 9 year and 4 month old patient. He had a height of 94 cm, weight of 8.6 Kg, head circumference of 42 cm. and blood pressure of 120/80. Cachectic habitus, kyphosis, microcephaly, oval face, sunken eyes, a thin and beaklike nose, lack of subcutaneous facial fat (especially in the middle of the face), and large ears give the patient a birdlike appearance. It is notorious the photosensitivity in all the sun-exposed skin. The patient also displays delayed psychomotor skills and mental retardation. In the oral cavity we found deficient hygiene, gingivitis, cervical caries, enamel hipoplasia, abnormal position of the upper and inferior lateral incisors, macrodontia of the upper central teeth, the left one presented a caries. In the x-ray we observed congenital absence of 14, 23 and 24 teeth and mandibular hipoplasia. The aim of this review is to show the dentistry community the characteristics of the Cockayne s syndrome by means of a clinical case.

  10. Proceedings from the Turner Resource Network symposium: the crossroads of health care research and health care delivery.

    Science.gov (United States)

    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. © 2015 Wiley Periodicals, Inc.

  11. Tourette Syndrome: A Mini-Review

    Directory of Open Access Journals (Sweden)

    Michal Novotny

    2018-03-01

    Full Text Available The purpose of this mini-review is to provide the latest information on epidemiology, pathophysiology, diagnosis, and treatment of Tourette syndrome (TS. The authors conducted a literature search of available sources describing the issue of tic disorders with special focus on TS and made a comparison and evaluation of relevant findings. The results of this mini-review indicate that TS is a complex disorder, which has a significant impact on the quality of life of both the patients and his/her family. Therefore, early and proper diagnosis and treatment are necessary in order to reduce or even eliminate both symptoms and social burden of the patient. This requires a multidisciplinary management approach in order to meet the patients’ special needs. Future research should focus on neuroimaging, new neurotransmitter targets, in functional neurosurgery, as well as the effect of non-pharmacological psychotherapies for these people.

  12. Border mythology: Turner and modernity

    Directory of Open Access Journals (Sweden)

    Jorge E. Brenna B.

    2011-07-01

    Full Text Available Modernity has been creating spaces, new boundaries and borders, as metaphysical, mythological and symbolic marks of physical and imaginary territories. Modern space and its borders are metaphors, boundaries that are created, walls that rise to identify with some and categorize others. In this short paper we want to approach the problem of the transformation of the idea of border (geographical, cultural, symbolic, etc., for a reflection on the transformations of that civilized obsession called border. The border has always been a reference in facing the identities, names, symbols, different imaginary: it is more confrontational line between two otherness. From the previous framework, we reflect on Turnerian mythology, as we believe that behind the creation of the imagination of the northern border is the mythical vision of the American frontier as ideological canon that explains and confirms the presence of the white race in a border re–made in the image and likeness of the “American Dream”. Frederick Turner’s reflection on the role of the frontier in American history is not only the study of the importance of progress towards the West but –even more so, is the analysis of meaning that had the American frontier as a historical process that ended in 1893, as Turner said, but rather extended into the twentieth century and continues to constantly shaping the process of territorialization of the border.

  13. Korsakoff’s syndrome: a critical review

    Science.gov (United States)

    Arts, Nicolaas JM; Walvoort, Serge JW; Kessels, Roy PC

    2017-01-01

    In this review, we present a survey on Korsakoff’s syndrome (KS), a residual syndrome in patients who suffered from a Wernicke encephalopathy (WE) that is predominantly characterized by global amnesia, and in more severe cases also by cognitive and behavioral dysfunction. We describe the history of KS and its definition, its epidemiology, and the lack of consensus criteria for its diagnosis. The cognitive and behavioral symptoms of KS, which include anterograde and retrograde amnesia, executive dysfunction, confabulation, apathy, as well as affective and social-cognitive impairments, are discussed. Moreover, recent insights into the underlying neurocognitive mechanisms of these symptoms are presented. In addition, the evidence so far on the etiology of KS is examined, highlighting the role of thiamine and alcohol and discussing the continuity hypothesis. Furthermore, the neuropathology of KS is reviewed, focusing on abnormalities in the diencephalon, including the mammillary bodies and thalamic nuclei. Pharmacological treatment options and nonpharmacological interventions, such as those based on cognitive rehabilitation, are discussed. Our review shows that thiamine deficiency (TD) is a crucial factor in the etiology of KS. Although alcohol abuse is by far the most important context in which TD occurs, there is no convincing evidence for an essential contribution of ethanol neurotoxicity (EN) to the development of WE or to the progression of WE to KS. Future research on the postmortem histopathological analysis of brain tissues of KS patients is crucial for the advancement of our knowledge of KS, especially for associating its symptoms with lesions in various thalamic nuclei. A necessary requirement for the advancement of studies on KS is the broad acceptance of a comprehensive definition and definite diagnostic criteria. Therefore, in this review, we propose such a definition of KS and draft outlines for prospective diagnostic criteria. PMID:29225466

  14. Korsakoff’s syndrome: a critical review

    Directory of Open Access Journals (Sweden)

    Arts NJM

    2017-11-01

    Full Text Available Nicolaas JM Arts,1,2 Serge JW Walvoort,1 Roy PC Kessels1,3,4 1Centre of Excellence for Korsakoff and Alcohol-Related Cognitive Disorders, Vincent van Gogh Institute for Psychiatry, Venray, 2Neuropsychiatry Center Thalamus, Institution for Integrated Mental Health Care Pro Persona, Wolfheze, 3Department of Neuropsychology and Rehabilitation Psychology, Donders Institute for Brain, Cognition and Behaviour, Radboud University, 4Department of Medical Psychology, Radboud University Medical Center, Nijmegen, the Netherlands Abstract: In this review, we present a survey on Korsakoff’s syndrome (KS, a residual syndrome in patients who suffered from a Wernicke encephalopathy (WE that is predominantly characterized by global amnesia, and in more severe cases also by cognitive and behavioral dysfunction. We describe the history of KS and its definition, its epidemiology, and the lack of consensus criteria for its diagnosis. The cognitive and behavioral symptoms of KS, which include anterograde and retrograde amnesia, executive dysfunction, confabulation, apathy, as well as affective and social-cognitive impairments, are discussed. Moreover, recent insights into the underlying neurocognitive mechanisms of these symptoms are presented. In addition, the evidence so far on the etiology of KS is examined, highlighting the role of thiamine and alcohol and discussing the continuity hypothesis. Furthermore, the neuropathology of KS is reviewed, focusing on abnormalities in the diencephalon, including the mammillary bodies and thalamic nuclei. Pharmacological treatment options and nonpharmacological interventions, such as those based on cognitive rehabilitation, are discussed. Our review shows that thiamine deficiency (TD is a crucial factor in the etiology of KS. Although alcohol abuse is by far the most important context in which TD occurs, there is no convincing evidence for an essential contribution of ethanol neurotoxicity (EN to the development of WE or to

  15. A systematic review of genetic syndromes with obesity.

    Science.gov (United States)

    Kaur, Y; de Souza, R J; Gibson, W T; Meyre, D

    2017-06-01

    Syndromic monogenic obesity typically follows Mendelian patterns of inheritance and involves the co-presentation of other characteristics, such as mental retardation, dysmorphic features and organ-specific abnormalities. Previous reviews on obesity have reported 20 to 30 syndromes but no systematic review has yet been conducted on syndromic obesity. We searched seven databases using terms such as 'obesity', 'syndrome' and 'gene' to conduct a systematic review of literature on syndromic obesity. Our literature search identified 13,719 references. After abstract and full-text review, 119 relevant papers were eligible, and 42 papers were identified through additional searches. Our analysis of these 161 papers found that 79 obesity syndromes have been reported in literature. Of the 79 syndromes, 19 have been fully genetically elucidated, 11 have been partially elucidated, 27 have been mapped to a chromosomal region and for the remaining 22, neither the gene(s) nor the chromosomal location(s) have yet been identified. Interestingly, 54.4% of the syndromes have not been assigned a name, whereas 13.9% have more than one name. We report on organizational inconsistencies (e.g. naming discrepancies and syndrome classification) and provide suggestions for improvements. Overall, this review illustrates the need for increased clinical and genetic research on syndromes with obesity. © 2017 World Obesity Federation.

  16. Mixed gonadal dysgenesis with Turner`s phenotype and mosaic karyotype

    Energy Technology Data Exchange (ETDEWEB)

    Tarim, O.; Lieber, E. [Maimonides Medical Center, Brooklyn, NY (United States)]|[Interfaith Medical Center, Brooklyn, NY (United States)

    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.

  17. The Schmidt-Czerny-Turner spectrograph

    Science.gov (United States)

    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.

  18. A Review of Select Centralized Pain Syndromes

    Directory of Open Access Journals (Sweden)

    David R. Spiegel

    2015-01-01

    Full Text Available Pain can be broadly divided into 3 classes, including nociceptive or inflammatory pain (protective, neuropathic (pathological, occurring after damage to the nervous system, or centralized (pathological, due to abnormal function but with no damage or inflammation to the nervous system. The latter has been posited to occur when descending analgesic pathways are attenuated and/or glutamatergic transmission is facilitated. Additionally, this “pain prone phenotype” can be associated with early life trauma and a suboptimal response to opiates. This article will review the relationships between centralized pain syndromes (ie, fibromyalgia, chronic low back pain, childhood sexual abuse, and opiate misuse. Finally, treatment implications, potentially effecting primary care physicians, will be discussed.

  19. Sweet Syndrome: A Review and Update.

    Science.gov (United States)

    Villarreal-Villarreal, C D; Ocampo-Candiani, J; Villarreal-Martínez, A

    2016-06-01

    Sweet syndrome is the most representative entity of febrile neutrophilic dermatoses. It typically presents in patients with pirexya, neutrophilia, painful tender erytomatous papules, nodules and plaques often distributed asymmetrically. Frequent sites include the face, neck and upper extremities. Affected sites show a characteristical neutrophilic infiltrate in the upper dermis. Its etiology remains elucidated, but it seems that can be mediated by a hypersensitivity reaction in which cytokines, followed by infiltration of neutrophils, may be involved. Systemic corticosteroids are the first-line of treatment in most cases. We present a concise review of the pathogenesis, classification, diagnosis and treatment update of this entity. Copyright © 2015 AEDV. Published by Elsevier España, S.L.U. All rights reserved.

  20. A social mind : The context of John Turner's work and its influence

    NARCIS (Netherlands)

    Reicher, Stephen D.; Haslam, S. Alexander; Spears, Russell; Reynolds, Katherine J.

    2012-01-01

    We review John Turner's contribution to social psychology and his ongoing influence on the field. We provide an account of his research and theorising framed by the two major theoretical frameworks which he developed: social identity theory (together with Henri Tajfel) and self-categorisation

  1. Antiphospholipid syndrome in Africa: a review | Akintayo | African ...

    African Journals Online (AJOL)

    Objective: To review the extent of research findings on Antiphospholipid Syndrome (APS) across the African continent. Data source: Published original researches and reviews were searched in English related to APS in Africa. Study design: Only studies conducted on Africans living in Africa were reviewed. Related review ...

  2. Cariotipo 45, X/46, X, r(X en pacientes con diagnóstico clínico de síndrome de Turner 45, x/46, x, r (x karyotype in patients with clinical diagnosis of turner’s syndrome

    Directory of Open Access Journals (Sweden)

    José Luis Ramírez Castro

    2000-03-01

    Full Text Available Uno de cada 400 a 500 recién nacidos vivos presenta anormalidades de los cromosomas sexuales. En términos generales, las manifestaciones clínicas por dicha alteración son más leves que las producidas por imbalance autosómico. Posiblemente esta tolerancia del feto en desarrollo al exceso o deficiencia del material presente en el cromosoma X, se debe, por lo menos en parte, a la presencia de mecanismos compensadores mediante los cuales dicho material puede ser o no inactivado (1. Las mujeres con síndrome de Turner presentan baja estatura, amenorrea primaria, tórax amplio, poco desarrollo mamario y además ovarios rudimentarios. Al nacer se destaca el edema de manos y pies, el cual desaparece durante la lactancia. No existe un retardo mental franco asociado con este síndrome, aunque hay evidencias de una disminución en la capacidad para interpretar las relaciones espaciales (2. Todas estas manifestaciones del síndrome tienen una estrecha relación con los hallazgos citogenéticos. El presente trabajo tiene como objetivo describir 4 pacientes atendidas en la Unidad de Genética Médica de la Facultad de Medicina de la Universidad de Antioquia, quienes presentan manifestaciones de Síndrome de Turner y un mosaicismo cromosómico que incluye líneas celulares con cromosoma X en anillo. Este tipo de alteración cromosómica es poco frecuente. Se discuten aspectos del cuadro clínico y los hallazgos citogenéticos en dichas pacientes. One out of 400 to 500 living newborns show sex chromosome abnormalities. Usually, the clinic characteristics due to alteration of those chromosomes are less severe than those produced by autosomic imbalance. This tolerance of the developing fetus to the excess or deficit in the X chromosome material, may be due, at least in part, to the presence of compensatory mechanisms related with the inactivation or not of the genetic material. Turner’s syndrome is characterized by short stature, primary amenorrea, streak

  3. Sjogren′s Syndrome: A Review

    Directory of Open Access Journals (Sweden)

    Rani Somani

    2011-01-01

    Full Text Available Sjogren′s syndrome, also known as "Mikulicz disease" or "Sicca syndrome" is a systemic autoimmune disease in which immune cells attack and destroy the exocrine glands that produce tears and saliva. It can exist by itself (primary Sjogren syndrome or develop in association with another disorder such as rheumatoid arthritis, systemic sclerosis, primary biliary cirrhosis or Hashimoto thyroiditis (associated Sjogren syndrome. Hallmarks are the dry mouth and dry eyes known as the Sicca syndrome. Sjogren syndrome affects t million to 4 million people in the United States- Most are over 40 years old at the time of diagnosis. As there is no known cure for Sjogren syndrome, treatment focuses on relieving symptoms and preventing complications. The most serious complication associated with primary Sjogren syndrome is the development of a lymphoproliferative disease. primarily non-Hodgkin lymphoma.

  4. Ullrich-Turner phenotype with unusual manifestation in a patient with mosaicism 45,X/47,XX,+18

    Energy Technology Data Exchange (ETDEWEB)

    Franceschini, P.; Guala, A.; Camerano, P.; Franceschini, D.; Vardeu, M.P.; Signorile, F. [Universita di Torino (Italy)

    1996-03-01

    We report on a girl with Ullrich-Turner phenotype and 45,X/47,XX,+18 chromosomal mosaicism. Only two other patients with similar mosaicism have been reported, both girls with XY sex chromosome constitution. The face of the patient was highly asymmetric, the right side being almost normal, the left showing a typical Ullrich-Turner syndrome appearance. This clinical impression was strengthened by photographic doubling of both hemifaces. The patient had normal intelligence and did not show any stigmata of trisomy 18. 13 refs., 2 figs., 1 tab.

  5. Specific Syndromes and Associated Communication Disorders: A Review.

    Science.gov (United States)

    Sanger, Dixie D.; And Others

    1984-01-01

    The review, intended to provide speech-language pathologists and special educators with an awareness of genetics and specific syndromes involving speech, language, and hearing components, discusses basic etiologies of abnormal development and selected syndromes (such as Down's and Klinefelter's) that include communication disorders. (CL)

  6. Presentation of Depression in Autism and Asperger Syndrome: A Review

    Science.gov (United States)

    Stewart, Mary E.; Barnard, Louise; Pearson, Joanne; Hasan, Reem; O'Brien, Gregory

    2006-01-01

    Depression is common in autism and Asperger syndrome, but despite this, there has been little research into this issue. This review considers the current literature on the prevalence, presentation, treatment and assessment of depression in autism and Asperger syndrome. There are diagnostic difficulties when considering depression in autism and…

  7. Temporomandibular joint disfunction syndrome and myofascial pain dysfunction syndrome: a critical review.

    Science.gov (United States)

    Moss, R A; Garrett, J C

    1984-01-01

    Temporomandibular joint (TMJ) dysfunction syndrome and myofascial pain dysfunction (MPD) syndrome have been primarily viewed as dental problems and have only recently received close attention by psychologists. The literature reviewed in the present paper reveals that a substantial portion of the population is affected by these disorders. There is, however, a great deal of confusion that exists in relation to the aetiology and treatment of these syndromes. In an attempt to clarify the current understanding of these disorders, the present review first presents a discussion of the symptoms which comprise each of these syndromes and the proposed physiological mechanisms associated with each symptom. Next, the aetiological theories for each of these syndromes are reviewed and critically evaluated. Treatments which have been derived from the theoretical models are then discussed. Finally, methodological considerations involving classification, assessment and treatment issues are presented and future research needs are outlined.

  8. Selenium intake and metabolic syndrome: A systematic review.

    Science.gov (United States)

    Retondario, Anabelle; Fernandes, Ricardo; Rockenbach, Gabriele; Alves, Mariane de Almeida; Bricarello, Liliana Paula; Trindade, Erasmo Benicio Santos de Moraes; Vasconcelos, Francisco de Assis Guedes de

    2018-03-02

    Metabolic syndrome is a multi-causal disease. Its treatment includes lifestyle changes with a focus on weight loss. This systematic review assessed the association between Selenium intake and metabolic syndrome. Data were collected mainly from four databases: PubMed, CENTRAL (Cochrane), Scopus and Web of Knowledge. Keywords related to metabolic syndrome, selenium, as well as metabolic syndrome features were searched. This review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) Statement. A systematic review protocol was registered at PROSPERO (n. 42016046321). Two reviewers independently screened 2957 abstracts. Six studies were included to perform data extraction with standardized spreadsheets. The risk of bias was assessed by using specific tools according to the design of the relevant studies. An assessment was carried out based on the appropriateness of the study reports accordingly to STROBE and the CONSORT-based checklist for each study design. Three studies found no association between Selenium intake and metabolic syndrome; two of them found an inverse association; and one study found a direct association between Selenium intake and metabolic syndrome. One study also showed an inverse association between Selenium intake and the prevalence of high waist circumference, high diastolic blood pressure, and hyperglycaemia in women. Overall, based on the argumentation and results of this study, it is possible to conclude that Selenium intake and metabolic syndrome are not clearly associated in adults and elderly. Copyright © 2018 Elsevier Ltd and European Society for Clinical Nutrition and Metabolism. All rights reserved.

  9. Factors associated with patellofemoral pain syndrome: A systematic review

    NARCIS (Netherlands)

    N.E. Lankhorst (Nienke); S.M. Bierma-Zeinstra (Sita); M. van Middelkoop (Marienke)

    2013-01-01

    markdownabstractABSTRACT This review systematically summarises factors associated with patellofemoral pain syndrome (PFPS). A systematic literature search was conducted. Studies including ≥20 patients with PFPS that examined ≥1 possible factor associated with PFPS were included. A

  10. Myelodysplastic syndromes: therapeutic problems and decisions (review

    Directory of Open Access Journals (Sweden)

    S. V. Semochkin

    2012-01-01

    Full Text Available Myelodysplastic syndromes (MDS are a group of heterogeneous clonal disorders of myeloid hematopoietic stem cells characterized by an ineffective hematopoiesis associated with cytopenias, morphologic dysplasia and a progression to acute myeloid leukemia. The only potentially curative MDS treatment is hematopoietic stem cell transplantation, which is usually not even discussed because most patients with advanced age at diagnosis. Currently only three drugs are approved by US Food and Drug Administration (FDA and European Medicines Agency for therapy of MDS. For low and intermediate-1 risk MDS del(5q the novel immunomodulatory drug lenalidomide is asserted, and for intermediate-2 and high risk the two hypomethylating agents (azacitidine, decitabine are approved. The results of completed clinical trials demonstrating the efficacy and safety of these agents are presented. The new data indicating that the successful future of MDS treatment rests in the combination of multiple treatments modalities to achieve improved clinical outcomes are discussed in this review.

  11. Alagille syndrome: Review of 14 patients

    Directory of Open Access Journals (Sweden)

    Purnamawati S. Pujiarto

    2017-02-01

    Full Text Available Alagille syndrome (AGS Is a common form of familial intrahepatic choleslasis, an autosomal dominant disorder due to defects in Jagged1 gene. It Is characterized by at least 3 of 5 mator features. We reviewed two groups of patients with AGS. Group 1 comprised 12 AGS patients, retrospectively studied (1995-1996, in the Gastroenterology Department, Royal Children's Hospital, Melbourne. Group 2 comprised 2 AGS patients, prospectively studied since 1999, in The Pediatric Hepatology Division, Cipto Mangunkusumo Hospital, Jakarta. Prolonged cholestasis is the most common feature at presentation (12 patients. All these 12 subjects developed pruritus and xanthoma of varying degree. Osteopenia occured in 6 patients, 2 patients experienced fractures. AGS facies was noted In aH 14 subjects. Heart anomaty was found in 10 patients, vertebral anomaly in 6 patients, and posterior embryotoxin in 10 patients. Common additional features were growth and mental retardation in 10 and 8 patients, respectively. Liver biopsy was able to confirm the diagnosis as young as age 2 months. Death occurred in 2 patients due to liver failure and hemorrhagic pneumonia. Liver transplant was done in 1 patient due to poor quality of life (severe pruritus, xanthoma, recurrent fractures. Affected family members were strongly presumed in 8 patients. In conclusion, AGS should be considered in babies with chronic Intrahepatic cholestasls, especially it associated with pruritus. Liver biopsy Is the most sensitive diagnostic testing which will prevent unnecessary surgical intervention due to biliary atresia mimicry.

  12. Myelodysplastic syndromes: therapeutic problems and decisions (review

    Directory of Open Access Journals (Sweden)

    S. V. Semochkin

    2014-07-01

    Full Text Available Myelodysplastic syndromes (MDS are a group of heterogeneous clonal disorders of myeloid hematopoietic stem cells characterized by an ineffective hematopoiesis associated with cytopenias, morphologic dysplasia and a progression to acute myeloid leukemia. The only potentially curative MDS treatment is hematopoietic stem cell transplantation, which is usually not even discussed because most patients with advanced age at diagnosis. Currently only three drugs are approved by US Food and Drug Administration (FDA and European Medicines Agency for therapy of MDS. For low and intermediate-1 risk MDS del(5q the novel immunomodulatory drug lenalidomide is asserted, and for intermediate-2 and high risk the two hypomethylating agents (azacitidine, decitabine are approved. The results of completed clinical trials demonstrating the efficacy and safety of these agents are presented. The new data indicating that the successful future of MDS treatment rests in the combination of multiple treatments modalities to achieve improved clinical outcomes are discussed in this review.

  13. Aortic Involvement in Pediatric Marfan syndrome: A Review.

    Science.gov (United States)

    Ekhomu, Omonigho; Naheed, Zahra J

    2015-06-01

    Outlining specific protocols for the management of pediatric patients with Marfan syndrome has been challenging. This is mostly due to a dearth of clinical studies performed in pediatric patients. In Marfan syndrome, the major sources of morbidity and mortality relate to the cardiovascular system. In this review, we focus on aortic involvement seen in pediatric patients with Marfan syndrome, ranging from aortic dilatation to aortic rupture and heart failure. We discuss the histological, morphological, and pathogenetic basis of the cardiac manifestations seen in pediatric Marfan syndrome and use a specific case to depict our experienced range of cardiovascular manifestations. The survival for patients with Marfan syndrome may approach the expected survival for non-affected patients, with optimal management. With this potentiality in mind, we explore possible and actual management considerations for pediatric Marfan syndrome, examining both medical and surgical therapy modalities that can make the possibility of improved survival a reality.

  14. Cognitive Phenotype of Velocardiofacial Syndrome: A Review

    Science.gov (United States)

    Furniss, Frederick; Biswas, Asit B.; Gumber, Rohit; Singh, Niraj

    2011-01-01

    The behavioural phenotype of velocardiofacial syndrome (VCFS), one of the most common human multiple anomaly syndromes, includes developmental disabilities, frequently including intellectual disability (ID) and high risk of diagnosis of psychotic disorders including schizophrenia. VCFS may offer a model of the relationship between ID and risk of…

  15. Perlman syndrome : Four additional cases and review

    NARCIS (Netherlands)

    Henneveld, HT; van Lingen, RA; Hamel, BCJ; Stolte-Dijkstra, [No Value; van Essen, AJ

    1999-01-01

    Perlman syndrome was first described in 1973 and comprises nephromegaly with renal dysplasia and Wilms tumor, macrosomia, cryptorchidism, and multiple facial anomalies. Polyhydramnios and hypoglycaemia are often found. Twelve children have been described from six different families. Five came from

  16. Review Diagnosis and management of Munchausen's Syndrome by ...

    African Journals Online (AJOL)

    A systematic literature review was conducted to identify and synthesise the relevant literature on the epidemiology, presentation, assessment and management of Munchausen's Syndrome by Proxy (MSP). This included collating information from published and unpublished sources. The purpose of the review was to provide ...

  17. Ocular ischemic syndrome - a systematic review.

    Science.gov (United States)

    Terelak-Borys, Barbara; Skonieczna, Katarzyna; Grabska-Liberek, Iwona

    2012-08-01

    Ocular ischemic syndrome is a rare condition, which is caused by ocular hypoperfusion due to stenosis or occlusion of the common or internal carotid arteries. Atherosclerosis is the major cause of changes in the carotid arteries. Ocular ischemic syndrome is manifested as visual loss, orbital pain and, frequently, changes of the visual field, and various anterior and posterior segment signs. Anterior segment signs include iris neovascularization and secondary neovascular glaucoma, iridocyclitis, asymmetric cataract, iris atrophy and sluggish reaction to light. Posterior eye segment changes are the most characteristic, such as narrowed retinal arteries, perifoveal telangiectasias, dilated retinal veins, mid-peripheral retinal hemorrhages, microaneurysms, neovascularization at the optic disk and in the retina, a cherry-red spot, cotton-wool spots, vitreous hemorrhage and normal-tension glaucoma. Differential diagnosis of ocular ischemic syndrome includes diabetic retinopathy and moderate central retinal vein occlusion. Carotid artery imaging and fundus fluorescein angiography help to establish the diagnosis of ocular ischemic syndrome. The treatment can be local, for example, ocular (conservative, laser and surgical) or systemic (conservative and surgical treatment of the carotid artery). Since the condition does not affect the eyes alone, patients with ocular ischemic syndrome should be referred for consultation to the neurologist, vascular surgeon and cardiologist.

  18. Definitions of traumatic conus medullaris and cauda equina syndrome: a systematic literature review

    NARCIS (Netherlands)

    Brouwers, E.M.; Meent, H. van de; Curt, A.; Starremans, B.; Hosman, A.J.; Bartels, R.H.M.A.

    2017-01-01

    STUDY DESIGN: A systematic review. OBJECTIVES: Conus medullaris syndrome (CMS) and cauda equina syndrome (CES) are well-known neurological entities. It is assumed that these syndromes are different regarding neurological and functional prognosis. However, literature concerning spinal trauma is

  19. Detour behaviour in attack-trained dogs: left-turners perform better than right-turners.

    Science.gov (United States)

    Siniscalchi, Marcello; Pergola, Gianluca; Quaranta, Angelo

    2013-01-01

    Detour behaviour was investigated in attack-trained dogs faced with a "U"-shaped vertical barrier behind which a figurant (target) was located. Left-turners took less time to detour the barrier than right-turners. The most logical explanation for the lateral asymmetries observed in dogs' detour behaviour is to assume that they reflect preferential use of the right or the left eye in visual analysis of the target. Given that the lateral field of each eye of dogs projects mainly to the contralateral side of the brain, shorter latencies to solve the task observed in left-turners (right visual hemifield) with respect to right-turners (left visual hemifield) are consistent with specialisation of the left hemisphere in prey-catching behaviour. Overall our results supported previous evidence that cerebral lateralisation in vertebrates can directly affect visually guided motor responses and have practical implications for personnel involved in the selection of dogs trained specifically to assist police and other law-enforcement personnel in their work.

  20. Thyroid dysfunction in children with Down syndrome: a literature review.

    Science.gov (United States)

    King, K; O'Gorman, C; Gallagher, S

    2014-03-01

    This article is an evidence-based review of thyroid disease in children with Down syndrome, including a comparison between various professional guidelines for the management of thyroid disease in children with Down syndrome. Aspects of thyroid disease which are discussed include: congenital hypothyroidism; autoimmune thyroid disease; subclinical hypothyroidism; and hyperthyroidism. The national professional guidelines of Ireland, the United Kingdom, the United States of America, Australia and Canada are reviewed and compared. A literature search was conducted using Medline and PubMed. Search terms included 'Down syndrome' and 'thyroid disease', 'hypothyroidism', 'hyperthyroidism', 'subclinical hypothyroidism'. Eighty-nine articles were retrieved and reviewed for inclusion. The guidelines on the medical management of children with Down syndrome of five expert groups have also been retrieved and reviewed for this discussion. These various guidelines offer largely similar advice regarding frequency of thyroid function tests, with only Ireland and the UK testing less frequently than annually. Only the United Kingdom and Irish Down Syndrome Medical Interest Group guidelines suggest testing for thyroid antibodies at every thyroid screen. None of the guidelines offer suggestions on the optimal course of action to pursue after the discovery of subclinical hypothyroidism. In conclusion, more evidence is required regarding the optimal course of treatment for subclinical hypothyroidism. Such evidence may be best obtained by conducting a prospective randomized control trial.

  1. The Peters' plus syndrome: a review

    NARCIS (Netherlands)

    Maillette de Buy Wenniger-Prick, Liesbeth J. J. M.; Hennekam, Raoul C. M.

    2002-01-01

    Peters' plus syndrome is an infrequently described entity that combines anomalies in the anterior chamber of the eye with other multiple congenital anomalies, and a developmental delay. Major symptoms are extremely variable anterior chamber anomalies, cupid bow of the upper lip, cleft lip and

  2. Practitioner Review: Chronic Fatigue Syndrome in Childhood

    Science.gov (United States)

    Garralda, M. Elena; Chalder, Trudie

    2005-01-01

    RBackground: Chronic fatigue syndrome (CFS) is being increasingly recognized in children and adolescents. Yet comparatively little attention has been given in the literature to management. Methods: Description of the main features of the disorder, precipitating and maintaining factors and diagnostic assessment. Outline of different views on the…

  3. Medial tibial stress syndrome: a critical review

    NARCIS (Netherlands)

    Moen, Maarten H.; Tol, Johannes L.; Weir, Adam; Steunebrink, Miriam; de Winter, Theodorus C.

    2009-01-01

    Medial tibial stress syndrome (MTSS) is one of the most common leg injuries in athletes and soldiers. The incidence of MTSS is reported as being between 4% and 35% in military personnel and athletes. The name given to this condition refers to pain on the posteromedial tibial border during exercise,

  4. Reye's Syndrome: A Review of Research Studies.

    Science.gov (United States)

    Lopez, Thomas P.; And Others

    1982-01-01

    Clinical and pathological studies of Reye's syndrome indicate that symptoms range from influenza-related encephalitis-type disease to cranial pressure, cerebral edema, hemorrhage, and coma. Biochemical research on the blood, ammonia, and the liver is increasing in sophistication, and hopes for future insight into the etiology of Reye's syndrome…

  5. Review of Irritable Bowel Syndrome Treatment

    Directory of Open Access Journals (Sweden)

    Ghadir M.R.

    2010-06-01

    Full Text Available Background and Objectives: Irritable bowel syndrome is one of the most common functional gastrointestinal disorders striking 10-20% of the world population. Although most patients do not take medical assistance, this disease enforces significant cost on the patient and health systems and has negative effects on quality of life of the individual. After diagnosis ,treatment of this disease is the next step. Many pathways of treatment has been introduced and the efficacy of each other has been established in one way or another. The first step in the path of treatment is education and confidence of patients that might also be the most important step. Fiber diet, probiotic, anti-cholinergic and anti antispasmodics, laxatives, anti-diarrhea, the drugs affecting serotonin receptors, antidepressants and anti-anxiety, the chloride channel activator and non-drug methods such as cognitive-behavior therapy, hypnotherapy, acupuncture and herbal medicine each of which has been tested on irritable bowel syndrome and efficacy of each one has been indicated in one way or another. This paper tried to outline new treatments available in addition to categorization and discussion of various treatments for irritable bowel syndrome.Keywords: Irritable Bowel Syndrome; Probiotics; Parasmpatholytics; Laxatives.

  6. Tourette Syndrome: A Review and Educational Implications.

    Science.gov (United States)

    Bauer, Anne M.; Shea, Thomas M.

    1984-01-01

    Tourette Syndrome, a condition characterized by involuntary muscular and verbal tics, is defined, its course described, incidence noted (possibly 1.6 percent of the population), etiology considered (from viewpoints of psychogenic and organic theories), treatment (primarily pharmaceutical therapy) discussed, and educational approaches examined.…

  7. Grey Turner's and Cullen's signs induced by spontaneous hemorrhage of the abdominal wall after coughing.

    Science.gov (United States)

    Fan, Zhe; Zhang, Yingyi

    2017-08-01

    Grey Turner's and Cullen's signs are rare clinical signs, which most appear in patients with severe acute pancreatitis. The present patient complained of abdominal pain after coughing. However, contrast-enhanced CT revealed a hemorrhage of the abdominal wall. Therefore, spontaneous hemorrhage of the abdominal wall was diagnosed. The patient recovered through immobilization and hemostasis therapy. This case report and literature review aims to remind clinicians of manifestations and treatment of spontaneous hemorrhage.

  8. Fenotipo turneriano asociado al cromosoma Y en anillo TURNER'S PHENOTYPE ASSOCIATED WITH RING Y CHROMOSOME

    Directory of Open Access Journals (Sweden)

    Estela Morales Peralta

    2005-03-01

    Full Text Available El síndrome de Turner es una enfermedad que típicamente afecta a las hembras. En nuestro trabajo describimos un paciente con los signos principales de esta. Su cariotipo fue 46, X r(Y /45, X. Este mosaicismo se explica por la inestabilidad del anillo cromosómico que conduce a su pérdida luego de la mitosis. Mediante pruebas moleculares, que incluyeron la identificación de los genes SRY y AM-XY, obtuvimos los resultados habituales encontrados en varones. De estos hallazgos podemos concluir que el material genético perdido, como parte del proceso de formación del anillo cromosómico, es distal a Y p11.3. Esto demuestra que los genes anti-Turner se encuentran localizados en esta región pseudoautosómica.Turner's syndrome is a disease typically affecting females. In our paper, we describe a patient with its main signs. His karyotype was 46, Xr(Y/45,X. This mosaicism is explained by the instability of the chromosomic ring leading to its loss after mitosis. By molecular tests, including the identification of SRY and AM-XY genes, we obtained the usual results found in males. According to these findings, we can conclude that the genetical material lost as part of the process of formation of the chromosomic ring is distal to Y p 11.3. This shows that the anti-Turner genes are located in this pseudoautosomal region.

  9. Sturge-Weber Syndrome: A Review.

    Science.gov (United States)

    Higueros, E; Roe, E; Granell, E; Baselga, E

    2017-06-01

    Sturge-Weber syndrome is a sporadic congenital neurocutaneous disorder caused by a somatic activating mutation in GNAQ; it affects 1 in every 20,000 to 50,000 newborns. It is characterized by a facial Port-wine stain, leptomeningeal angiomatosis, and glaucoma. Seizures are the most common neurological manifestation and typically present in the first months of life. Glaucoma may be present at birth or develop later. Neuroimaging studies show leptomeningeal angiomatosis, supporting diagnosis. Standard treatment for Sturge-Weber syndrome includes laser treatment for the Port-wine stain, anticonvulsants, and medical or surgical treatment for the glaucoma. Prognosis depends on the extent of leptomeningeal involvement and the severity of the glaucoma. Copyright © 2016 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.

  10. Restless legs syndrome and pregnancy: A review

    OpenAIRE

    Srivanitchapoom, Prachaya; Pandey, Sanjay; Hallett, Mark

    2014-01-01

    Restless legs syndrome (RLS) is a common sensorimotor neurological disorder that is diagnosed according to the revised criteria of the International RLS Study Group (IRLSSG). The pathophysiology of RLS is still unknown and its prevalence is influenced by ethnicity, age, and gender. RLS is divided into two types by etiology: primary or idiopathic and secondary. Primary RLS is strongly influenced by a genetic component while secondary RLS is caused by other associated conditions such as end-sta...

  11. Dietary fiber in irritable bowel syndrome (Review)

    OpenAIRE

    El-Salhy, Magdy; Ystad, Synne Otterasen; Mazzawi, Tarek; Gundersen, Doris

    2017-01-01

    Irritable bowel syndrome (IBS) is a common chronic gastrointestinal disorder. It is widely believed that IBS is caused by a deficient intake of dietary fiber, and most physicians recommend that patients with IBS increase their intake of dietary fiber in order to relieve their symptoms. However, different types of dietary fiber exhibit marked differences in physical and chemical properties, and the associated health benefits are specific for each fiber type. Short-chain soluble and highly ferm...

  12. COMPUTER VISION SYNDROME: A SHORT REVIEW.

    OpenAIRE

    Sameena; Mohd Inayatullah

    2012-01-01

    Computers are probably one of the biggest scientific inventions of the modern era, and since then they have become an integral part of our life. The increased usage of computers have lead to variety of ocular symptoms which includ es eye strain, tired eyes, irritation, redness, blurred vision, and diplopia, collectively referred to as Computer Vision Syndrome (CVS). CVS may have a significant impact not only on visual com fort but also occupational productivit...

  13. Review of Irritable Bowel Syndrome Treatment

    Directory of Open Access Journals (Sweden)

    M.R Ghadir

    2012-05-01

    Full Text Available

    Background and Objectives: Irritable bowel syndrome is one of the most common functional gastrointestinal disorders striking 10-20% of the world population. Although most patients do not take medical assistance, this disease enforces significant cost on the patient and health systems and has negative effects on quality of life of the individual. After diagnosis ,treatment of this disease is the next step. Many pathways of treatment has been introduced and the efficacy of each other has been established in one way or another. The first step in the path of treatment is education and confidence of patients that might also be the most important step. Fiber diet, probiotic, anti-cholinergic and anti antispasmodics, laxatives, anti-diarrhea, the drugs affecting serotonin receptors, antidepressants and anti-anxiety, the chloride channel activator and non-drug methods such as cognitive-behavior therapy, hypnotherapy, acupuncture and herbal medicine each of which has been tested on irritable bowel syndrome and efficacy of each one has been indicated in one way or another. This paper tried to outline new treatments available in addition to categorization and discussion of various treatments for irritable bowel syndrome.

  14. Review of periodic limb movement and restless leg syndrome

    Directory of Open Access Journals (Sweden)

    Natarajan R

    2010-01-01

    Full Text Available Periodic limb movement (PLM and Restless leg syndrome (RLS are types of sleep disorders that are not very well recognized in clinical practice. While RLS is a clinical diagnosis, the diagnosis of PLM is made by polysomnography. They share the same pathophysiology and often respond to the same treatment. To date all the epidemiological studies have reported the prevalence between 2% and 15%. It has recently become known that mild obstructive sleep apnea and upper airway resistance syndrome (UARS can masquerade as PLM syndrome. New discoveries have been made with regard to genetics and PLM and RLS. Detailed review on this subject should improve the awareness of these disorders, both among general physicians and specialists. Extensive review of journals in the past 20 years was made using Medline search.

  15. Systematic review of case reports of antiphospholipid syndrome following infection.

    Science.gov (United States)

    Abdel-Wahab, N; Lopez-Olivo, M A; Pinto-Patarroyo, G P; Suarez-Almazor, M E

    2016-12-01

    The objective of this study was to conduct a systematic review of case reports documenting the development of antiphospholipid syndrome or antiphospholipid syndrome-related features after an infection. We searched Medline, EMBASE, Web of Science, PubMed ePubs, and The Cochrane Library - CENTRAL through March 2015 without restrictions. Studies reporting cases of antiphospholipid syndrome or antiphospholipid syndrome-related features following an infection were included. Two hundred and fifty-nine publications met inclusion criteria, reporting on 293 cases. Three different groups of patients were identified; group 1 included patients who fulfilled the criteria for definitive antiphospholipid syndrome (24.6%), group 2 included patients who developed transient antiphospholipid antibodies with thromboembolic phenomena (43.7%), and group 3 included patients who developed transient antiphospholipid antibodies without thromboembolic events (31.7%). The most common preceding infection was viral (55.6%). In cases that developed thromboembolic events Human immunodeficiency and Hepatitis C viruses were the most frequently reported. Parvovirus B19 was the most common in cases that developed antibodies without thromboembolic events. Hematological manifestations and peripheral thrombosis were the most common clinical manifestations. Positive anticardiolipin antibodies were the most frequent antibodies reported, primarily coexisting IgG and IgM isotypes. Few patients in groups 1 and 2 had persistent antiphospholipid antibodies for more than 6 months. Outcome was variable with some cases reporting persistent antiphospholipid syndrome features and others achieving complete resolution of clinical events. Development of antiphospholipid antibodies with all traditional manifestations of antiphospholipid syndrome were observed after variety of infections, most frequently after chronic viral infections with Human immunodeficiency and Hepatitis C. The causal relationship between infection

  16. The growing teratoma syndrome: Current review of the literature

    Directory of Open Access Journals (Sweden)

    Vladislav Gorbatiy

    2009-01-01

    Full Text Available Growing teratoma syndrome (GTS is a rare condition among patients with non-seminomatous germ cell tumors who present with enlarging metastatic masses during appropriate systemic chemotherapy and in the context of normalized serum markers. This article reviews the current pertinent scientific literature on the diagnosis and management of GTS.

  17. Brief Report: Systematic Review of Rett Syndrome in Males

    Science.gov (United States)

    Reichow, Brian; George-Puskar, Annie; Lutz, Tara; Smith, Isaac C.; Volkmar, Fred R.

    2015-01-01

    Rett syndrome (RTT) is a neurogenetic disorder in which a period of typical development is followed by loss of previously acquired skills. Once thought to occur exclusively in females, increasing numbers of male cases of RTT have been reported. This systematic review included 36 articles describing 57 cases of RTT in males. Mutations of the MECP2…

  18. Adaptive Functioning in Williams Syndrome: A Systematic Review

    Science.gov (United States)

    Brawn, Gabrielle; Porter, Melanie

    2018-01-01

    Literature on the level of adaptive functioning and relative strengths and weaknesses in functioning of individuals with Williams syndrome (WS) was reviewed. The electronic databases PsycINFO, PubMed, Expanded Academic, Web of Science, Scopus and ProQuest were searched electronically for relevant articles and dissertations using the search terms…

  19. Churg Strauss Syndrome: a Review | Borke | Nigerian Journal of ...

    African Journals Online (AJOL)

    Churg Strauss syndrome is a medical condition of unknown aetiology characterized by asthma, eosinophilia and finally vasculitis involving small vessels in the limbs and nasal sinuses and the lungs. The purpose of this review is to highlight the natural history of this condition, the pathogenesis, clinical features and ...

  20. Communication Intervention in Rett Syndrome: A Systematic Review

    Science.gov (United States)

    Sigafoos, Jeff; Green, Vanessa A.; Schlosser, Ralf; O'eilly, Mark F.; Lancioni, Giulio E.; Rispoli, Mandy; Lang, Russell

    2009-01-01

    We reviewed communication intervention studies involving people with Rett syndrome. Systematic searches of five electronic databases, selected journals, and reference lists identified nine studies meeting the inclusion criteria. These studies were evaluated in terms of: (a) participant characteristics, (b) target skills, (c) procedures, (d) main…

  1. Communication Assessment for Individuals with Rett Syndrome: A Systematic Review

    Science.gov (United States)

    Sigafoos, Jeff; Kagohara, Debora; van der Meer, Larah; Green, Vanessa A.; O'Reilly, Mark F.; Lancioni, Giulio E.; Lang, Russell; Rispoli, Mandy; Zisimopoulos, Dimitrios

    2011-01-01

    We reviewed studies that aimed to determine whether behaviors, such as body movements, vocalizations, eye gaze, and facial expressions, served a communicative function for individuals with Rett syndrome. A systematic search identified eight studies, which were summarized in terms of (a) participants, (b) assessment targets, (c) assessment…

  2. Treatment of medial tibial stress syndrome: a systematic review

    NARCIS (Netherlands)

    Winters, Marinus; Eskes, Michel; Weir, Adam; Moen, Maarten H.; Backx, Frank J. G.; Bakker, Eric W. P.

    2013-01-01

    Medial tibial stress syndrome (MTSS) is a common exercise-induced leg injury among athletes and military personnel. Several treatment options have been described in the literature, but it remains unclear which treatment is most effective. The objective of this systematic review was to assess the

  3. Intersection Syndrome in a Handcyclist: Case Report and Literature Review

    OpenAIRE

    Jean Yonnet, Gael

    2013-01-01

    Intersection syndrome describes a rare inflammatory condition located at the crossing point between the first dorsal compartment muscles and the radial wrist extensor muscles. It is a repetitive motion injury that affects patients who overuse their wrists. The present report reviews the incidence of the condition as well as the special populations it affects. The anatomy of the wrist is presented and clinical findings and physical examination techniques are reviewed to help the reader reach a...

  4. A systematic review of population screening for fragile X syndrome.

    Science.gov (United States)

    Hill, Melissa K; Archibald, Alison D; Cohen, Jonathan; Metcalfe, Sylvia A

    2010-07-01

    To conduct a systematic review of literature regarding population-based screening for fragile X syndrome in newborns and women of reproductive age, either before or during pregnancy. Seven electronic databases were searched for English language studies published between January 1991 and November 2009. Data extraction was performed for all included studies. Results were synthesized using a narrative approach. One article that examined offering newborn screening for fragile X syndrome and 10 that examined the offer of fragile X syndrome screening to women of reproductive age were identified. Two of these articles also addressed psychosocial aspects of population screening for fragile X syndrome such as attitudes to screening and experiences of screening, and a further nine addressed these issues alone. Studies exploring psychosocial issues demonstrated challenges for counseling arising from a lack of awareness or personal experience with fragile X syndrome in the general population. Targeted counseling and educational strategies will be essential to support women from the general population. It is crucial that future studies offering screening for fragile X syndrome explore a range of psychosocial aspects in addition to looking at uptake of testing and mutation frequency.

  5. A review of postural orthostatic tachycardia syndrome.

    LENUS (Irish Health Repository)

    Carew, Sheila

    2012-01-31

    A 21-year-old female reports an 18-month history of light-headedness on standing. This is often associated with palpitations and a feeling of intense anxiety. She has had two black-outs in the past 12 months. She is not taking any regular medications. Her supine blood pressure was 126\\/84 mmHg with a heart rate of 76 bpm, and her upright blood pressure was 122\\/80 mmHg with a heart rate of 114 bpm. A full system examination was otherwise normal. She had a 12-lead electrocardiogram performed which was unremarkable. She was referred for head-up tilt testing. She was symptomatic during the test and lost consciousness at 16 min. Figure 1 summarizes her blood pressure and heart rate response to tilting. A diagnosis of postural orthostatic tachycardia syndrome with overlapping vasovagal syncope was made.

  6. RECURRENT CORNEAL EROSION SYNDROME (a review

    Directory of Open Access Journals (Sweden)

    S. V. Trufanov

    2015-01-01

    Full Text Available Recurrent corneal erosion (RCE syndrome is characterized by episodes of recurrent spontaneous epithelial defects. Main clinical symptoms (pain, redness, photophobia, lacrimation occurred at night. Corneal lesions revealed by slit lamp exam vary depending on the presence of corneal epithelium raise, epithelial microcysts or epithelial erosions, stromal infiltrates and opacities. Microtraumas, anterior corneal dystrophies, and herpesvirus give rise to RCE. Other causes or factors which increase the risk of RCE syndrome include meibomian gland dysfunction, keratoconjunctivitis sicca, diabetes, and post-LASIK conditions. Basal membrane abnormalities and instability of epithelial adhesion to stroma play a key role in RCE pathogenesis. Ultrastructural changes in RCE include abnormalities of basal epithelial cells and epithelial basal membrane, absence or deficiency of semi-desmosomes, loss of anchor fibrils. Increase in matrix metalloproteinases and collagenases which contribute to basal membrane destruction results in recurrent erosions and further development of abnormal basal membrane. The goals of RCE therapy are to reduce pain (in acute stage, to stimulate re-epithelization, and to restore «adhesion complex» of basal membrane. In most cases, RCE responds to simple conservative treatment that includes lubricants, healing agents, and eye patches. RCEs that are resistant to simple treatment, require complex approach. Non-invasive methods include long-term contact lens use, instillations of autologous serum (eye drops, injections of botulinum toxin (induces ptosis, antiviral agent use or oral intake of metalloproteinase inhibitors. Cell membrane stabilizers, i.e., antioxidants, should be included into treatment approaches as well. Antioxidant effect of Emoxipine promotes tissue reparation due to the prevention of cell membrane lipid peroxidation as well as due to its anti-hypoxic, angioprotective, and antiplatelet effects. If conservative therapy

  7. The thoracic outlet syndromes: Part 1. Overview of the thoracic outlet syndromes and review of true neurogenic thoracic outlet syndrome.

    Science.gov (United States)

    Ferrante, Mark A; Ferrante, Nicole D

    2017-06-01

    The thoracic outlet syndromes (TOSs) are a group of etiologically and clinically distinct disorders with 1 feature in common: compression of 1 or more neurovascular elements as they traverse the thoracic outlet. The medical literature reflects 5 TOSs: arterial; venous; traumatic neurovascular; true neurogenic; and disputed. Of these, the first 4 demonstrate all of the features expected of a syndrome, whereas disputed TOS does not, causing many experts to doubt its existence altogether. Thus, some categorize disputed TOS as a cervicoscapular pain syndrome rather than as a type of TOS. To better understand these disorders, their distinctions, and the reasoning underlying the categorical change of disputed TOS from a form of TOS to a cervicoscapular pain syndrome, a thorough understanding of the pertinent anatomy, pathology, pathophysiology, and the electrodiagnostic manifestations of their pathophysiologies is required. This review of the TOSs is provided in 2 parts. In this first part we address information pertinent to all 5 TOSs and reviews true neurogenic TOS. In part 2 we review the other 4 TOSs. Muscle Nerve 55: 782-793, 2017. © 2017 Wiley Periodicals, Inc.

  8. MRI assessment of bronchial compression in absent pulmonary valve syndrome and review of the syndrome

    International Nuclear Information System (INIS)

    Taragin, Benjamin H.; Berdon, Walter E.; Prinz, B.

    2006-01-01

    Absent pulmonary valve syndrome (APVS) is a rare cardiac malformation with massive pulmonary insufficiency that presents with short-term and long-term respiratory problems secondary to severe bronchial compression from enlarged central and hilar pulmonary arteries. Association with chromosome 22.Q11 deletions and DiGeorge syndrome is common. This historical review illustrates the airway disease with emphasis on assessment of the bronchial compression in patients with persistent respiratory difficulties post-valvular repair. Cases that had MRI for cardiac assessment are used to illustrate the pattern of airway disease. (orig.)

  9. A review of Down's syndrome studies and ionizing radiation

    International Nuclear Information System (INIS)

    Rose, K.S.B.

    1994-01-01

    This review collates results from 3 high dose (> 0.1 Gy) and 23 low dose epidemiological studies of parental radiation exposure and Down's syndrome incidence. A pattern of consistent results appears in 13 studies of irradiation received by women for diagnostic purposes. The pattern is an increase in Down's syndrome, the increase being approximately equivalent to an ovarian doubling dose of 20 mGy. The value is definitely not compatible with results from the high dose studies. Results from the other 10 low dose studies were used to test this value but most proved to be unsuitable for a variety of reasons. However, no associations between levels of high natural background and Down's syndrome have been observed in either New England or Aberdeen, which are areas in developed countries where reliable statistics ar collected. (author)

  10. Síndrome de Turner e polimorfismo genético: uma revisão sistemática

    Directory of Open Access Journals (Sweden)

    Alessandra Bernadete Trovó de Marqui

    2015-09-01

    Full Text Available ResumoObjetivo:Apresentar os principais resultados dos estudos que investigaram polimorfismos genéticos em síndrome de Turner, bem como sua associação com alguns sinais clínicos e etiologia desse distúrbio cromossômico.Fontes de dados:Revisão bibliográfica feita no PubMed, sem limite de período, com os seguintes termos: Turner syndrome and genetic polymorphism. Foram identificados 116 artigos e, de acordo com os critérios de inclusão e exclusão, 17 foram selecionados para leitura.Síntese dos dados:Os polimorfismos investigados em pacientes com síndrome de Turner estavam relacionados com déficit de crescimento, que causou baixa estatura, densidade mineral óssea baixa, autoimunidade e anomalias cardíacas, que podem estar presentes com frequências significativas nas pacientes. Também foi verificado o papel dos polimorfismos de único nucleotídeo (SNPs na etiologia da síndrome de Turner, ou seja, na não disjunção cromossômica.Conclusões:Os polimorfismos genéticos parecem estar associados à síndrome de Turner. Entretanto, por conta dos poucos estudos publicados e dos achados contraditórios, pesquisas em diferentes populações são necessárias para esclarecer o papel dessas variantes genéticas para os sinais clínicos e a etiologia do distúrbio cromossômico.

  11. Terence S. Turner (1935-2015

    Directory of Open Access Journals (Sweden)

    Villarías-Robles, Juan J. R.

    2016-06-01

    Full Text Available U. S. anthropologist Terence S. Turner died in November, 2015, after a long and intense life devoted to studying the indigenous peoples of Brazil and Amazonia, especially the Kayapó. He was as keen to reconstruct their culture prior to contact with the Portuguese and later Brazilian frontier, as he was to monitor the transformation process that such contact stimulated. In the early 2000s, he was actively involved in the controversy triggered by Patrick Tierney’s Darkness in El Dorado: How Scientists and Journalists Devastated the Amazon, which dealt with the negative impact on the Yanomami of certain forms of scientific research conducted in the West.El antropólogo estadounidense Terence S. Turner falleció en noviembre de 2015, dejando tras de sí una larga e intensa vida dedicada a la investigación sobre los pueblos originarios del Brasil y la Amazonía, en particular sobre los Cayapó. Le interesó tanto la reconstrucción de su cultura anterior al contacto con la frontera portuguesa y luego brasileña como el proceso de transformación que este contacto estimuló. En los primeros años de la década de 2000 participó activamente en la controversia desencadenada por la publicación del libro Darkness in El Dorado: How Scientists and Journalists Devastated the Amazon, de Patrick Tierney, acerca del impacto negativo sobre los Yanomami de ciertas formas de investigación científica practicadas en Occidente.

  12. Dietary fiber in irritable bowel syndrome (Review)

    Science.gov (United States)

    El-Salhy, Magdy; Ystad, Synne Otterasen; Mazzawi, Tarek; Gundersen, Doris

    2017-01-01

    Irritable bowel syndrome (IBS) is a common chronic gastrointestinal disorder. It is widely believed that IBS is caused by a deficient intake of dietary fiber, and most physicians recommend that patients with IBS increase their intake of dietary fiber in order to relieve their symptoms. However, different types of dietary fiber exhibit marked differences in physical and chemical properties, and the associated health benefits are specific for each fiber type. Short-chain soluble and highly fermentable dietary fiber, such as oligosaccharides results in rapid gas production that can cause abdominal pain/discomfort, abdominal bloating/distension and flatulence in patients with IBS. By contrast, long-chain, intermediate viscous, soluble and moderately fermentable dietary fiber, such as psyllium results in a low gas production and the absence of the symptoms related to excessive gas production. The effects of type of fiber have been documented in the management of IBS, and it is known to improve the overall symptoms in patients with IBS. Dietary fiber acts on the gastrointestinal tract through several mechanisms, including increased fecal mass with mechanical stimulation/irritation of the colonic mucosa with increasing secretion and peristalsis, and the actions of fermentation byproducts, particularly short-chain fatty acids, on the intestinal microbiota, immune system and the neuroendocrine system of the gastrointestinal tract. Fiber supplementation, particularly psyllium, is both safe and effective in improving IBS symptoms globally. Dietary fiber also has other health benefits, such as lowering blood cholesterol levels, improving glycemic control and body weight management. PMID:28731144

  13. Restless legs syndrome and pregnancy: A review

    Science.gov (United States)

    Srivanitchapoom, Prachaya; Pandey, Sanjay; Hallett, Mark

    2014-01-01

    Restless legs syndrome (RLS) is a common sensorimotor neurological disorder that is diagnosed according to the revised criteria of the International RLS Study Group (IRLSSG). The pathophysiology of RLS is still unknown and its prevalence is influenced by ethnicity, age, and gender. RLS is divided into two types by etiology: primary or idiopathic and secondary. Primary RLS is strongly influenced by a genetic component while secondary RLS is caused by other associated conditions such as end-stage renal disease or peripheral neuropathy. Another common condition associated with RLS is pregnancy. The prevalence of RLS during pregnancy is two to three times higher than in the normal population and is influenced by the trimester and the number of parity. The main mechanisms that may contribute to the pathophysiology of RLS during pregnancy are hormonal changes and iron and folate status. Standard medications for treating RLS during pregnancy are not established. Most medications have been used according to the evidence from non-pregnant patients. Therefore, consideration of the medical treatment for treating RLS during pregnancy should be balanced between the benefit of relieving the symptoms and maternal and fetal risk. In general, the prognosis of RLS during pregnancy is good and symptoms are usually relieved after delivery. PMID:24768121

  14. Tourette Syndrome in Children: An Updated Review

    Directory of Open Access Journals (Sweden)

    Jung-Chieh Du

    2010-10-01

    Full Text Available Tourette syndrome (TS is a common neuropsychiatric disorder in children characterized by multiple motor and vocal tics that fluctuate in severity and lasting for at least 1 year. Boys are more commonly affected than girls. Symptoms usually begin with simple motor or vocal tics which then evolve into more complex motor and vocal tics over time. Premonitory sensory urges are common in children over the age of 8 years, and these urges help distinguish tics from symptoms of other movement disorders. Common comorbidities of TS include attention deficit hyperactivity disorder, obsessive-compulsive disorder and learning difficulties. Several genes have been assessed as candidate genes for TS; environmental factors such as stress and streptococcal infections might also contribute to its etiology. The pathophysiology of TS mainly involves dysfunction of basal ganglia-related circuits and hyperactive dopaminergic innervations. A thorough history assessment and neurological examination are important for the correct diagnosis and differentiation from other movement disorders. Treatment for TS should focus on improving the patient's social functioning, minimizing the impairment from cormobid disorders, and controlling tics, if they are severe. Commonly used medications for TS include a2-adrenergic agonists and atypical neuroleptics. Habit reversal therapy is an effective option for TS, and repetitive transcranial magnetic stimulation may be a promising approach for severe cases.

  15. Dietary fiber in irritable bowel syndrome (Review).

    Science.gov (United States)

    El-Salhy, Magdy; Ystad, Synne Otterasen; Mazzawi, Tarek; Gundersen, Doris

    2017-09-01

    Irritable bowel syndrome (IBS) is a common chronic gastrointestinal disorder. It is widely believed that IBS is caused by a deficient intake of dietary fiber, and most physicians recommend that patients with IBS increase their intake of dietary fiber in order to relieve their symptoms. However, different types of dietary fiber exhibit marked differences in physical and chemical properties, and the associated health benefits are specific for each fiber type. Short-chain soluble and highly fermentable dietary fiber, such as oligosaccharides results in rapid gas production that can cause abdominal pain/discomfort, abdominal bloating/distension and flatulence in patients with IBS. By contrast, long-chain, intermediate viscous, soluble and moderately fermentable dietary fiber, such as psyllium results in a low gas production and the absence of the symptoms related to excessive gas production. The effects of type of fiber have been documented in the management of IBS, and it is known to improve the overall symptoms in patients with IBS. Dietary fiber acts on the gastrointestinal tract through several mechanisms, including increased fecal mass with mechanical stimulation/irritation of the colonic mucosa with increasing secretion and peristalsis, and the actions of fermentation byproducts, particularly short-chain fatty acids, on the intestinal microbiota, immune system and the neuroendocrine system of the gastrointestinal tract. Fiber supplementation, particularly psyllium, is both safe and effective in improving IBS symptoms globally. Dietary fiber also has other health benefits, such as lowering blood cholesterol levels, improving glycemic control and body weight management.

  16. Metabolic Syndrome in Schizophrenia: A Non‑systematic Review

    Directory of Open Access Journals (Sweden)

    Marta Nascimento

    2012-12-01

    Full Text Available Background: The link between mental illness and metabolic disturbances has been recognized since the beginning of the last century. The debate concerning medical morbidity in schizophrenia intensified during the last twenty years, especially after the introduction of atypical antipsychotics. Aims: To highlight some features of the metabolic syndrome in this population, specifically epidemiological data, underlying mechanisms and antipsychotic therapy. Methods: Non‑systematic review of literature. Results and Conclusions: Despite the different criteria used for the definition of metabolic syndrome, it is clear today that the schizophrenic population has the highest rate of metabolic syndrome. Additionally, the prevalence of the metabolic syndrome in this population demonstrates a geographical distribution similar to the general population. Although it hasn’t been recognized for years, schizophrenic patients’ vulnerability to develop metabolic disturbances isn’t entirely related to antipsychotic therapy. Actually, it results from an interaction of multiple factors, including hereditary, genetic, biochemical and environmental ones (which include antipsychotic therapy. Moreover, they are not exclusively explained by weight gain. Metabolic disturbances are one of the main concerns related to general psychopharmacology. The differences between typical and atypical antipsychotics in terms of metabolic syndrome are not completely established. However, clozapine and olanzapine are recognized to have the worst metabolic profile, amongst all atypical antipsychotics.

  17. [An updated review of 1p36 deletion (monosomy) syndrome].

    Science.gov (United States)

    Bello, Sabina; Rodríguez-Moreno, Antonio

    The Monosomy 1p36 deletion syndrome is part of the group of diseases known as Rare Diseases. The objective of the present work is to review the characteristics of Monosomy 1p36 deletion syndrome. The monosomy 1p36 deletion syndrome phenotype includes: dysmorphic craniofacial features; large anterior fontanelle, unibrow, deep-set eyes, epicanthus, wide nasal root/bridge, mandible hypoplasia, abnormal location of the pinna, philtrum and pointed chin; neurological alterations: seizures and hydrocephalus (in some cases). Cerebral malformations: ventricular hypertrophy, increased subarachnoid space, morphological alterations of corpus callosum, cortical atrophy, delays in myelinisation, periventricular leukomalacia and periventricular heterotopia. These alterations produce intellectual disability and delays in motor growth, communication skills, language, social and adaptive behaviour. It is Hearing and vision impairments are also observed in subjects with this syndrome, as well as alterations of cardiac, endocrine and urinary systems and alterations at skin and skeletal level. Approximately 100 cases have been documented since 1981. This rare disease is the most common subtelomeric-micro-deletion syndrome. In situ hybridization with fluorescence (FISH) and array-comparative genomic hybridization (CGH-array) are at present the two best diagnostic techniques. There is currently no effective medical treatment for this disease. Copyright © 2016 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  18. Metabolic Syndrome in Schizophrenia: A Non‑systematic Review

    Directory of Open Access Journals (Sweden)

    Marta Nascimento

    2013-11-01

    Full Text Available Background: The link between mental illness and metabolic disturbances has been recognized since the beginning of the last century. The debate concerning medical morbidity in schizophrenia intensified during the last twenty years, especially after the introduction of atypical antipsychotics. Aims: To highlight some features of the metabolic syndrome in this population, specifically epidemiological data, underlying mechanisms and antipsychotic therapy. Methods: Non‑systematic review of literature. Results and Conclusions: Despite the different criteria used for the definition of metabolic syndrome, it is clear today that the schizophrenic population has the highest rate of metabolic syndrome. Additionally, the prevalence of the metabolic syndrome in this population demonstrates a geographical distribution similar to the general population. Although it hasn’t been recognized for years, schizophrenic patients’ vulnerability to develop metabolic disturbances isn’t entirely related to antipsychotic therapy. Actually, it results from an interaction of multiple factors, including hereditary, genetic, biochemical and environmental ones (which include antipsychotic therapy. Moreover, they are not exclusively explained by weight gain. Metabolic disturbances are one of the main concerns related to general psychopharmacology. The differences between typical and atypical antipsychotics in terms of metabolic syndrome are not completely established. However, clozapine and olanzapine are recognized to have the worst metabolic profile, amongst all atypical antipsychotics.

  19. Ulnar hammer syndrome: a systematic review of the literature.

    Science.gov (United States)

    Vartija, Larisa; Cheung, Kevin; Kaur, Manraj; Coroneos, Christopher James; Thoma, Achilleas

    2013-11-01

    Ulnar hammer syndrome is an uncommon form of arterial insufficiency. Many treatments have been described, and debate continues about the best option. The goal of this systematic review was to determine whether ulnar hammer syndrome has an occupational association, to identify the most reliable diagnostic test, and to determine the best treatment modality. A comprehensive literature search was conducted using the Cochrane Database of Systematic Reviews, the Cochrane Central Register of Controlled Trials, MEDLINE, CINAHL, and EMBASE. Data from articles meeting inclusion criteria were collected in duplicate. Methodological quality of studies was assessed using the Methodological Index for Nonrandomized Studies scale. Thirty studies were included in the systematic review. No randomized controlled trials were identified. There is low-quality evidence suggestive of an association between exposure to repetitive hand trauma and vibration and ulnar hammer syndrome. Various diagnostic investigations were used, but few were compared, making it difficult to determine the most reliable diagnostic test. Numerous nonoperative and operative treatments were reported. With nonoperative treatment, 12 percent had complete resolution and 70 percent had partial resolution of their symptoms. Of patients treated operatively, 42.5 percent had complete resolution and 42.5 percent had partial resolution of their symptoms. The heterogeneity in study design and outcome measures limits definitive conclusions about occupational association, best diagnostic test, and treatment for ulnar hammer syndrome. However, there is low-quality evidence that suggests that most patients with ulnar hammer syndrome will have partial relief of symptoms with nonoperative treatment, and operative treatment results in complete or partial resolution of symptoms in the majority of cases. Therapeutic, IV.

  20. Serotonin Syndrome in Tapentadol Literature: Systematic Review of Original Research.

    Science.gov (United States)

    Gressler, Laura E; Hammond, Drayton A; Painter, Jacob T

    The potential association between serotonin syndrome and tapentadol is not well described in the literature. This study aimed to review the literature and identify methodological issues that could lead to inaccurately reported rates of serotonin syndrome associated with tapentadol use. A systematic review of English articles using MEDLINE, Cochrane Controlled Trials Register, and Scopus was performed. Additional studies were identified by cross-referencing article bibliographies. Original research that examined the safety of tapentadol in patients with nonconfounding indications were examined. In total, 22 studies met inclusion criteria. There were 13 randomized clinical trials, 7 open-label trials, and 2 observational studies. All studies either did not mention whether serotonergic medication use was prohibited or disallowed use. Frequently reported adverse events were nausea, diarrhea, constipation, fatigue, vomiting, and somnolence. No studies reported serotonin syndrome development. No included trials differentiated between the development of adverse events in patients taking serotonergic drugs and those who were not. This differentiation is necessary to evaluate the increased risk of adverse events in patients prescribed tapentadol concomitantly with other serotonergic medications. Therefore, the current tapentadol literature has important limitations that prevent the adequate characterization of the potential association between tapentadol and serotonin syndrome.

  1. Bipolar disorder and metabolic syndrome: a systematic review

    Directory of Open Access Journals (Sweden)

    Letícia Czepielewski

    2013-03-01

    Full Text Available OBJECTIVE: Summarize data on metabolic syndrome (MS in bipolar disorder (BD. METHODS: A systematic review of the literature was conducted using the Medline, Embase and PsycInfo databases, using the keywords "metabolic syndrome", "insulin resistance" and "metabolic X syndrome" and cross-referencing them with "bipolar disorder" or "mania". The following types of publications were candidates for review: (i clinical trials, (ii studies involving patients diagnosed with bipolar disorder or (iii data about metabolic syndrome. A 5-point quality scale was used to assess the methodological weight of the studies. RESULTS: Thirty-nine articles were selected. None of studies reached the maximum quality score of 5 points. The prevalence of MS was significantly higher in BD individuals when compared to a control group. The analysis of MS subcomponents showed that abdominal obesity was heterogeneous. Individuals with BD had significantly higher rates of hypertriglyceridemia than healthy controls. When compared to the general population, there were no significant differences in the prevalence of low HDL-c in individuals with BD. Data on hypertension were also inconclusive. Rates of hyperglycemia were significantly greater in patients with BD compared to the general population. CONCLUSIONS: The overall results point to the presence of an association between BD and MS, as well as between their subcomponents.

  2. Klinefelter syndrome, insulin resistance, metabolic syndrome, and diabetes: review of literature and clinical perspectives.

    Science.gov (United States)

    Salzano, Andrea; D'Assante, Roberta; Heaney, Liam M; Monaco, Federica; Rengo, Giuseppe; Valente, Pietro; Pasquali, Daniela; Bossone, Eduardo; Gianfrilli, Daniele; Lenzi, Andrea; Cittadini, Antonio; Marra, Alberto M; Napoli, Raffaele

    2018-03-23

    Klinefelter syndrome (KS), the most frequent chromosomic abnormality in males, is associated with hypergonadotropic hypogonadism and an increased risk of cardiovascular diseases (CVD). The mechanisms involved in increasing risk of cardiovascular morbidity and mortality are not completely understood. This review summarises the current understandings of the complex relationship between KS, metabolic syndrome and cardiovascular risk in order to plan future studies and improve current strategies to reduce mortality in this high-risk population. We searched PubMed, Web of Science, and Scopus for manuscripts published prior to November 2017 using key words "Klinefelter syndrome" AND "insulin resistance" OR "metabolic syndrome" OR "diabetes mellitus" OR "cardiovascular disease" OR "testosterone". Manuscripts were collated, studied and carried forward for discussion where appropriate. Insulin resistance, metabolic syndrome, and type 2 diabetes are more frequently diagnosed in KS than in the general population; however, the contribution of hypogonadism to metabolic derangement is highly controversial. Whether this dangerous combination of risk factors fully explains the CVD burden of KS patients remains unclear. In addition, testosterone replacement therapy only exerts a marginal action on the CVD system. Since fat accumulation and distribution seem to play a relevant role in triggering metabolic abnormalities, an early diagnosis and a tailored intervention strategy with drugs aimed at targeting excessive visceral fat deposition appear necessary in patients with KS.

  3. Noninvasive screening tools for Down syndrome: a review

    OpenAIRE

    Visootsak, Jeannie; Smith, MS,Meagan

    2013-01-01

    Meagan Smith, Jeannie Visootsak Emory University, Department of Human Genetics, Atlanta, GA, USA Abstract: Down syndrome is the leading cause of prenatal chromosome abnormalities, accounting for 53% of all reported chromosome conditions. Testing strategies, guidelines, and screening options have expanded from their conception in the 1970s, and now include such options as anatomical ultrasound, maternal serum screening, and noninvasive prenatal testing. This review summarizes all currently av...

  4. Cognition In Parkinsonian Syndromes : A Review

    Directory of Open Access Journals (Sweden)

    Das Sujata

    2004-01-01

    Full Text Available Parkinson′s disease is a distinctive progressive disorder characterised clinically by tremor, rigidity, bradykinesia and postural imbalance. Although James Parkinson himself denied the presence of intellectual changes in the parkinsonian Disease, thorough exploration has revealed behavioural and cognitive changes to be explicit in the patients. India, along with its demographic shift and its overwhelming population growth, falls a victim to all old-age degenerative diseases. A large percentage of the elderly Indian population today suffers from Parkinsonian and related disorders. Disturbed cognition and neurobehavioral abnormalities are enough reasons for a falling ADL (activities of daily living curve, and consequent distress to families of PD patients. Spontaneous involvement of one and all is required to not only intervene with the right pharmacological therapy, but also to empathize and develop the right attitude towards the affected person. Cognitive dysfunction in Parkinson′s disease is well established and its affection in the early stage has been reported. In this article. We attempt to review and update the various cognitive impairments that occur in all the Parkinson related disorders which necessitates diagnosis, management and rehabilitation to alleviate patients′ suffering. It also reviews the role of frontal lobe, dementia and depression with respect to these patients.

  5. Serotonergic anti-depressants and ethanol withdrawal syndrome: a review.

    Science.gov (United States)

    Uzbay, I Tayfun

    2008-01-01

    To review laboratory findings on the effects of anti-depressant agents that interact with the serotonergic system on signs of ethanol withdrawal syndrome in rats. Adult Wistar rats received a modified liquid diet to produce ethanol dependence. Signs of ethanol withdrawal, locomotor hyperactivity, stereotyped behaviour, tremor, wet dog shakes, agitation, and audiogenic seizures, were evaluated for the first 6 h of ethanol withdrawal. The effects of the anti-depressants fluoxetine, venlafaxine, escitalopram, tianeptine, and extract of Hypericum perforatum (St. John's wort) (HPE) were examined. Some beneficial effects of fluoxetine, tianeptine, HPE, escitalopram and venlafaxine on ethanol withdrawal signs were observed, ranked as follows: fluoxetine = tianeptine > HPE > escitalopram > venlafaxine. Tianeptine and fluoxetine seem to be potent pharmacologically active agents on ethanol withdrawal syndrome in rats. Thus, these anti-depressants may be useful in treatment of ethanol withdrawal syndrome in patients with alcoholism. In addition to serotonergic effects, interactions with nitrergic, glutamatergic, and adenosinergic systems may also provide a significant contribution to the beneficial effects of these drugs on ethanol withdrawal syndrome.

  6. Vitamin D and polycystic ovary syndrome: an integrating review

    Directory of Open Access Journals (Sweden)

    Ione Maria Ribeiro Soares Lopes

    2017-04-01

    Full Text Available Introduction: Polycystic ovary syndrome (PCOS is the most common endocrinopathyin women of reproductive age. It causes a metabolic syndrome characterized by insulin resistance, hyperinsulinemia, and dyslipidemia. Vitamin D deficiency and its association with PCOS still represents a controversial subject in the literature. Objective: In this context, this study aimed to understand the association between polycystic ovary syndrome and vitamin D deficiency, and how it occurs. Method: It was an integrative review conducted in the PubMed, Scopus, LILACS, and CINAHL databases from August 2016 to January 2017, with a sample of 7 articles analyzed in their entirety. Results: The evidences according to the studies conducted and the conclusions they identified.  Conclusions: It was concluded that we cannot yet assume that vitamin D deficiency contributes to the pathogenesis of PCOS, nor that the syndrome causes vitamin D deficiency, since the studies are controversial and there is a need for research with higher levels of evidence to clarify these doubts.

  7. RHUPUS Syndrome in Children: A Case Series and Literature Review

    Directory of Open Access Journals (Sweden)

    Vahid Ziaee

    2013-01-01

    Full Text Available Objective. Overlap of juvenile idiopathic arthritis (JIA and juvenile systemic lupus erythematosus (JSLE is a rare clinical condition in children. This condition has been described as RHUPUS syndrome. Prevalence of this syndrome and 3 cases are reported in this paper. Cases Presentation. During 10 years, 3 patients with SLE had chronic arthritis before or after diagnosis of SLE. Prevalence of this disorder in JSLE was 2.5%. Two patients were females and one of them was a male. According to our review, mean delay between chronic joint involvement and JSLE diagnosis was 50.1 months. In our case report, two females had joint erosion and one of them died due to heart failure, but in the literature review, just 45% cases had joint erosion and 70% cases were polyarticulare form. Conclusion. RHUPUS is unusual presentation of lupus in children. It seems that clinical feature and outcome of RHUPUS syndrome are different in children due to difference between RA and JIA. We suggest juvenile RHUPUS for overlap of JIA and JSLE.

  8. The HELLP syndrome: Clinical issues and management. A Review

    Directory of Open Access Journals (Sweden)

    Svendsen Einar

    2009-02-01

    Full Text Available Abstract Background The HELLP syndrome is a serious complication in pregnancy characterized by haemolysis, elevated liver enzymes and low platelet count occurring in 0.5 to 0.9% of all pregnancies and in 10–20% of cases with severe preeclampsia. The present review highlights occurrence, diagnosis, complications, surveillance, corticosteroid treatment, mode of delivery and risk of recurrence. Methods Clinical reports and reviews published between 2000 and 2008 were screened using Pub Med and Cochrane databases. Results and conclusion About 70% of the cases develop before delivery, the majority between the 27th and 37th gestational weeks; the remainder within 48 hours after delivery. The HELLP syndrome may be complete or incomplete. In the Tennessee Classification System diagnostic criteria for HELLP are haemolysis with increased LDH (> 600 U/L, AST (≥ 70 U/L, and platelets 9/L. The Mississippi Triple-class HELLP System further classifies the disorder by the nadir platelet counts. The syndrome is a progressive condition and serious complications are frequent. Conservative treatment (≥ 48 hours is controversial but may be considered in selected cases

  9. Sturge Weber Syndrome: review of literature with case illustration

    Directory of Open Access Journals (Sweden)

    Satyarthee Guru Dutta

    2017-03-01

    Full Text Available Sturge-Weber syndrome (SWS also called as encephalotrigeminal angiomatosis, is a sporadically occurring rare neuro-cutaneous syndrome, characterized by vascular malformation with capillary venous angiomas involving face, choroidal layer of eye globe and leptomeninges responsible for ophthamological as well as neurological signs and symptoms. Authors report an interesting case, a six year old girl, who presented with seizures, facial port wine stain and normal psychomotor development. CT scan showed left cerebral hemiatrophy, left frontal and parieto occipital calcification with cortical calcification in left high frontal convexity. Cranial MRI scan also confirmed finding of left cerebral hemiatrophy and also revealed presence of gyriform cortical calcification, prominent flow voids seen in left basal ganglia. Her seizure is well controlled with antiepileptic medication. The pertinent literature is reviewed and management of such cases is discussed briefly.

  10. Review and update of mutations causing Waardenburg syndrome.

    Science.gov (United States)

    Pingault, Véronique; Ente, Dorothée; Dastot-Le Moal, Florence; Goossens, Michel; Marlin, Sandrine; Bondurand, Nadège

    2010-04-01

    Waardenburg syndrome (WS) is characterized by the association of pigmentation abnormalities, including depigmented patches of the skin and hair, vivid blue eyes or heterochromia irides, and sensorineural hearing loss. However, other features such as dystopia canthorum, musculoskeletal abnormalities of the limbs, Hirschsprung disease, or neurological defects are found in subsets of patients and used for the clinical classification of WS. Six genes are involved in this syndrome: PAX3 (encoding the paired box 3 transcription factor), MITF (microphthalmia-associated transcription factor), EDN3 (endothelin 3), EDNRB (endothelin receptor type B), SOX10 (encoding the Sry bOX10 transcription factor), and SNAI2 (snail homolog 2), with different frequencies. In this review we provide an update on all WS genes and set up mutation databases, summarize molecular and functional data available for each of them, and discuss the applications in diagnostics and genetic counseling. (c) 2010 Wiley-Liss, Inc.

  11. Klippel–trenaunay syndrome: A case report with radiological review

    Directory of Open Access Journals (Sweden)

    Amit T Kharat

    2016-01-01

    Full Text Available Klippel–Trenaunay Syndrome is a congenital disorder with a rare incidence of 3-5/1,00,000. It is characterized by a triad of capillary malformation (hemangioma or port-wine stain, venous varicosities, and bony or, soft-tissue hypertrophy. The malformation in the capillary is usually limited to a single extremity though multiple extremities can be involved. This disease is subject to significant morbidities such as bleeding, deep vein thrombosis, and embolic complications. Our case study was a young male of 6 years suffering since birth, from a painful port-wine stain on the lateral aspect of the right thigh, enlarged right femur, and soft tissues. Vascular Doppler ultrasound, skeletal X-ray, and magnetic resonance imaging of the limb indicated a Klippel–Trenaunay disease. This article describes a case study of a child presenting with Klippel–Trenaunay including a review of the syndrome and treatment recommendations.

  12. Power, Creativity, and Destruction in Turner's Fires

    Directory of Open Access Journals (Sweden)

    Leo Costello

    2017-12-01

    Full Text Available This article considers Turner’s depictions of fire throughout his career. Beginning with some of his very first images, including 'The Pantheon, the Morning after the Fire', it argues that while fire would eventually come to be a means for Turner to create his reputation as a painter of destruction, it also held associations of creativity, domesticity, and comfort. Furthermore, while fire was not nearly as prominent in his early work as it was in the early 1830s, it also became a means for him to elaborate issues of viewership, sublimity, and public space. Following a consideration of some of Turner’s most well-known images of fire in the 1830s, such as those in the 'Parliament' paintings, the article concludes with an extended discussion of the 1832 'Shadrach, Meshach and Abednego in the Burning Fiery Furnace'. It broadly connects the pictures of the early 1830s to the growth of mass politics and its implications.

  13. Plasma exchange in Goodpasture syndrome associated with ...

    African Journals Online (AJOL)

    Background: Good pasture syndrome (GPS) has been paid much attention recently for the dangerous illnessand high mortality. Objective: To investigate the efficiency of plasma exchange (PE) to treat Goodpasture syndrome (GPS) in children associated with Turner's syndrome. Method: We report a case of a 15 year old ...

  14. 75 FR 38809 - Southern Turner Cimarron I, LLC; Notice of Filing

    Science.gov (United States)

    2010-07-06

    ...] Southern Turner Cimarron I, LLC; Notice of Filing June 25, 2010. Take notice that on June 24, 2010, Southern Turner Cimarron I, LLC filed a supplement confirming passive ownership structure for informational...

  15. FORUM Loeys-Dietz syndrome: A possible solution for Akhenaten's ...

    African Journals Online (AJOL)

    The history of ancient Egypt holds many unsolved, fascinating mysteries. The 18th dynasty is the most famous and ... Marfan syndrome, Wilson-Turner X-linked mental retardation syndrome, Fröhlich syndrome ... Antley-Bixler or Marfan syndrome, and could find no evidence of gynaecomastia because the anterior chest wall ...

  16. Pain management in Guillain-Barre syndrome: a systematic review.

    Science.gov (United States)

    Peña, L; Moreno, C B; Gutierrez-Alvarez, A M

    2015-09-01

    Pain is a common symptom in patients with Guillain-Barre syndrome. Intensity is moderate to severe in most cases and pain may persist after resolution of the disease. Identify the most appropriate analgesic therapy for pain management in patients with Guillain-Barre syndrome. Systematic review and selection of scientific articles on treatment of pain in Guillain-Barre syndrome patients, published between January 1985 and December 2012. We included only randomised, double-blind, controlled trials assessing the effectiveness of drugs for pain management in these patients. Four articles met the inclusion criteria. One evaluated the use of gabapentin, another evaluated carbamazepine, a third compared gabapentin to carbamazepine, and the last evaluated use of methylprednisolone. Both carbamazepine and gabapentin were useful for pain management. Patients experienced lower-intensity pain with gabapentin treatment in the study comparing that drug to carbamazepine. Methylprednisolone was not shown to be effective for reducing pain. The published data did not permit completion of a meta-analysis. There is no robust evidence at present that would point to a single treatment option for this disorder. Further clinical studies of larger patient samples and with a longer duration are needed to characterise types of pain for each patient and measure pain intensity in an objective way. Copyright © 2013 Sociedad Española de Neurología. Published by Elsevier España, S.L.U. All rights reserved.

  17. Tourette's syndrome and associated disorders: a systematic review

    Directory of Open Access Journals (Sweden)

    Bárbara R. Ferreira

    2014-09-01

    Full Text Available Objective: To compile data on Tourette's syndrome (TS, tics and associated disorders.Methods: A systematic review of the literature was conducted using the 5S levels of organization of healthcare research evidence (systems, summaries, synopses, syntheses, studies, based on the model described by Haynes. The search keywords were Tourette, tics and comorbidity, which were cross-referenced. Studies provided by publishers and articles being processed on July 31, 2013, were also included.Results: Of all studies retrieved during the search, 64 were selected because they analyzed the epidemiology, clinical features and etiopathogenesis of TS and its comorbidities. TS is classified as a hyperkinetic movement disorder, and at least 90% of the patients have neuropsychiatric comorbidities, of which attention deficit hyperactivity and obsessive-compulsive disorders are the most common. The syndrome is clinically heterogeneous and has been associated with a dysfunction of cortico-striatal-thalamic-cortical circuits involving various neurotransmitters. Although its genetic etiology has been widely studied, other factors may be important to understand this syndrome and its associated disorders.Conclusions: TS is a neurodevelopmental disorder that results from the impact of stress factors on a vulnerable biological substrate during the critical periods of neurodevelopment. The study of TS and its comorbidities may contribute, at different levels, to the understanding of several neuropsychiatric disorders of clinical and therapeutic relevance.

  18. Determinants of the postpericardiotomy syndrome: a systematic review.

    Science.gov (United States)

    van Osch, Dirk; Nathoe, Hendrik M; Jacob, Kirolos A; Doevendans, Pieter A; van Dijk, Diederik; Suyker, Willem J; Dieleman, Jan M

    2017-06-01

    Postpericardiotomy syndrome (PPS) is a common complication following cardiac surgery; however, the exact pathogenesis remains uncertain. Identifying risk factors of PPS might help to better understand the syndrome. The aim of this study was to provide an overview of existing literature around determinants of PPS in adult cardiac surgery patients. Two independent investigators performed a systematic search in MEDLINE, EMBASE and the Cochrane Central Register. The search aimed to identify studies published between January 1950 and December 2015, in which determinants of PPS were reported. A total of 19 studies met the selection criteria. In these studies, 14 different definitions of PPS were used. The median incidence of PPS was 16%. After quality assessment, seven studies were considered eligible for this review. Lower preoperative interleukin-8 levels and higher postoperative complement conversion products were associated with a higher risk of PPS. Among other clinical factors, a lower age, transfusion of red blood cells and lower preoperative platelet and haemoglobin levels were associated with a higher risk of PPS. Colchicine use decreased the risk of PPS. We found that both the inflammatory response and perioperative bleeding and coagulation may play a role in the development of PPS, suggesting a multifactorial aetiology of the syndrome. Due to a lack of a uniform definition of PPS in the past, study comparability was poor across the studies. © 2017 Stichting European Society for Clinical Investigation Journal Foundation.

  19. Status of astigmatism-corrected Czerny-Turner spectrometers

    Science.gov (United States)

    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.

  20. Foreign Accent Syndrome As a Psychogenic Disorder: A Review

    Science.gov (United States)

    Keulen, Stefanie; Verhoeven, Jo; De Witte, Elke; De Page, Louis; Bastiaanse, Roelien; Mariën, Peter

    2016-01-01

    In the majority of cases published between 1907 and 2014, FAS is due to a neurogenic etiology. Only a few reports about FAS with an assumed psychogenic origin have been published. The present article discusses the findings of a careful database search on psychogenic FAS. This review may be particularly relevant as it is the first to analyze the salient features of psychogenic FAS cases to date. This article hopes to pave the way for the view that psychogenic FAS is a cognate of neurogenic FAS. It is felt that this variant of FAS may have been underreported, as most of the psychogenic cases have been published after the turn of the century. This review may improve the diagnosis of the syndrome in clinical practice and highlights the importance of recognizing psychogenic FAS as an independent taxonomic entity. PMID:27199699

  1. Fractional flow reserve in acute coronary syndromes: A review

    Directory of Open Access Journals (Sweden)

    Nikunj R. Shah

    2014-12-01

    Full Text Available Fractional flow reserve (FFR assessment provides anatomical and physiological information that is often used to tailor treatment strategies in coronary artery disease. Whilst robust data validates FFR use in stable ischaemic heart disease, its use in acute coronary syndromes (ACS is less well investigated. We critically review the current data surrounding FFR use across the spectrum of ACS including culprit and non-culprit artery analysis. With adenosine being conventionally used to induce maximal hyperaemia during FFR assessment, co-existent clinical conditions may preclude its use during acute myocardial infarction. Therefore, we include a current review of instantaneous wave free ratio as a novel vasodilator independent method of assessing lesion severity as an alternative strategy to guide revascularisation in ACS.

  2. Tourette syndrome deep brain stimulation: a review and updated recommendations.

    Science.gov (United States)

    Schrock, Lauren E; Mink, Jonathan W; Woods, Douglas W; Porta, Mauro; Servello, Dominico; Visser-Vandewalle, Veerle; Silburn, Peter A; Foltynie, Thomas; Walker, Harrison C; Shahed-Jimenez, Joohi; Savica, Rodolfo; Klassen, Bryan T; Machado, Andre G; Foote, Kelly D; Zhang, Jian-Guo; Hu, Wei; Ackermans, Linda; Temel, Yasin; Mari, Zoltan; Changizi, Barbara K; Lozano, Andres; Auyeung, M; Kaido, Takanobu; Agid, Yves; Welter, Marie L; Khandhar, Suketu M; Mogilner, Alon Y; Pourfar, Michael H; Walter, Benjamin L; Juncos, Jorge L; Gross, Robert E; Kuhn, Jens; Leckman, James F; Neimat, Joseph A; Okun, Michael S

    2015-04-01

    Deep brain stimulation (DBS) may improve disabling tics in severely affected medication and behaviorally resistant Tourette syndrome (TS). Here we review all reported cases of TS DBS and provide updated recommendations for selection, assessment, and management of potential TS DBS cases based on the literature and implantation experience. Candidates should have a Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM V) diagnosis of TS with severe motor and vocal tics, which despite exhaustive medical and behavioral treatment trials result in significant impairment. Deep brain stimulation should be offered to patients only by experienced DBS centers after evaluation by a multidisciplinary team. Rigorous preoperative and postoperative outcome measures of tics and associated comorbidities should be used. Tics and comorbid neuropsychiatric conditions should be optimally treated per current expert standards, and tics should be the major cause of disability. Psychogenic tics, embellishment, and malingering should be recognized and addressed. We have removed the previously suggested 25-year-old age limit, with the specification that a multidisciplinary team approach for screening is employed. A local ethics committee or institutional review board should be consulted for consideration of cases involving persons younger than 18 years of age, as well as in cases with urgent indications. Tourette syndrome patients represent a unique and complex population, and studies reveal a higher risk for post-DBS complications. Successes and failures have been reported for multiple brain targets; however, the optimal surgical approach remains unknown. Tourette syndrome DBS, though still evolving, is a promising approach for a subset of medication refractory and severely affected patients. © 2014 International Parkinson and Movement Disorder Society.

  3. Henry S. Turner, The English Renaissance Stage. Geometry, Poetics, and the Practical Spatial Arts 1580-1630 - Tim Fitzpatrick, Playwright, Space and Place in Early Modern Performance

    Directory of Open Access Journals (Sweden)

    Luigi Giuliani

    2013-05-01

    Full Text Available Review of Henry S. Turner, The English Renaissance Stage. Geometry, Poetics, and the Practical Spatial Arts 1580-1630, Oxford University Press, Oxford, 2006, reimpr. 2010, 326 pp. ISBN: 978-0-19-959545-7 y Tim Fitzpatrick, Playwright, Space and Place in Early Modern Performance, Ashgate, Franham, 2011, 314 pp. ISBN: 978-1-4094-2827-5.

  4. Collectrin gene screening in Turner syndrome patients with kidney ...

    Indian Academy of Sciences (India)

    immune basis, suggesting that hap- loinsufficiency for X-chromosome gene(s) impairs beta-cell function predisposing to diabetes mellitus in TS (Bakalov et al. 2004). The loss of the short arm of chromosome X (Xp), common to all TS, generally ...

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

    Science.gov (United States)

    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.

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

    DEFF Research Database (Denmark)

    Trolle, Christian; Mortensen, Kristian Havmand; Hjerrild, Britta E

    2012-01-01

    is frequent and can be a forerunner of cardiovascular disease. The description of adult life with TS has been broadened and medical, social and psychological aspects are being added at a compelling pace. Proper care during adulthood should be studied and a framework for care should be in place, since most...

  7. A mother with variant Turner syndrome and two daughters with ...

    Indian Academy of Sciences (India)

    (Su et al. 2006). As they are often phenotypically normal and can have spontaneous conception similar to our index case, they are rarely detected during adolescence. Had it not been for her two daughters presenting with learning disability, behavioural problems and dysmorphism, which warranted chromosomal analysis ...

  8. Frequencies and distributions of sex chromosome abnormalities in females with the Turner phenotype: a long-term retrospective study in the southern region of Turkey

    Science.gov (United States)

    Tanrıverdi, Nilgün; Demirhan, Osman; Süleymanova, Dilara; Pazarbaşı, Ayfer

    2017-11-13

    Background/aim: The genetic background of Turner syndrome (TS) is highly variable. The correlation between genotype and phenotype is not yet well understood. The aim of this study was to describe the frequencies and distributions of Turner karyotypes and to discuss the phenotype/genotype relation in a very large group of individuals with TS. Materials and methods: The karyotype results of 248 female participants were evaluated retrospectively.Results: Of 248 females with the Turner phenotype, 14.5% had normal karyotypes and 85.5% had Turner karyotypes. About 72.2% of the abnormalities were numerical aberrations and 27.8% were structural aberrations. The most frequent karyotype was monosomy X, which was found in 135 females (63.7%), followed by 44 mosaics (21%), 40 isochromosomes of the long and short arms of chromosome X (19.1%), and 17 deletions of the short and long arms of chromosome X (8.0%). One case of Robertsonian translocation and one case of mosaic TS with marker chromosome were detected. Conclusion: This study shows the frequency and distribution of karyotypes in females with TS. There is great value to be gleaned from studies of females with TS in furthering our understanding of the atypical clinical features associated with TS. Studies involving genetic analyses will be necessary to examine gene expression profiles in girls with TS and identify potential candidate genes underlying the atypical clinical features associated with TS.

  9. Síndrome de Parsonage-Turner

    Directory of Open Access Journals (Sweden)

    Edie Benedito Caetano

    2016-10-01

    Full Text Available Introdução: A síndrome de Parsonage-Turner (SPT ou neuralgia amiotrófica (NA foi descrita por Dreschfeld em 1887. Ela é normalmente caracterizada por crises de dor neuropática e subsequente paralisia irregular na extremidade superior, ocasionalmente associada com escápula alada; no entanto, é uma síndrome com uma ampla variedade de manifestações clínicas. Os médicos de diversas especialidades que recebem os relatos dos sintomas dessa doença por parte dos pacientes podem incorrer em um diagnóstico tardio e sucumbir a variáveis resultados.; Objetivos: A falta de controle definitivo para essa síndrome, ainda debilitante e rara, requer mais estudo e discussão, sendo o objetivo deste trabalho discutir epidemiologia, etiologia, quadro clínico, diagnóstico, diagnósticos diferenciais, tratamento e prognóstico da SPT; Metodologia: O trabalho consiste em uma revisão bibliográfica, com pesquisa em bancos de dados virtuais; Resultados: A doença apresenta uma ampla gama de manifestações clínicas, e os pacientes geralmente apresentam-se aos médicos de diferentes especialidades com queixa de dor intensa, de início súbito no ombro, que irradia para o braço ou pescoço e dura por horas ou semanas. Quando a dor desaparece, desenvolve-se uma paralisia flácida com fraqueza e atrofia muscular associada à perda sensorial da cintura escapular; Conclusões: O diagnóstico preciso pode ser desafiador e requer uma história completa e exame físico detalhado. Estudos de velocidade de condução nervosa e imagem auxiliam na avaliação. O tratamento consiste no controle sintomático. Os sintomas podem persistir durante mais do que um ano, mas a maioria dos pacientes evolui para resolução ao longo do tempo.

  10. Areeda-Turner in Two-Sided Markets

    NARCIS (Netherlands)

    Behringer, S.; Filistrucchi, L.

    2014-01-01

    Areeda and Turner (1975) were the first to argue that a price below marginal costs should be considered a sign of predation. Recognizing that marginal cost data were typically unavailable, the authors concluded that a price below average variable cost should be presumed unlawful. This socalled

  11. Areeda-turner in two-sided markets

    NARCIS (Netherlands)

    Behringer, S.; Filistrucchi, L.

    2015-01-01

    We extend the Areeda–Turner rule to two-sided markets. We show that a two-sided monopolist may find it short-run profit-maximizing to charge a price below marginal cost on one side of the market. Hence showing that the price is below marginal cost on one side of a two-sided market cannot be

  12. Alstrom syndrome (OMIM 203800: a case report and literature review

    Directory of Open Access Journals (Sweden)

    Hegele Robert A

    2007-12-01

    Full Text Available Abstract Background Alstrom syndrome (AS is a rare autosomal recessive disease characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss. Associated endocrinologic features include hyperinsulinemia, early-onset type 2 diabetes, and hypertriglyceridemia. Thus, AS shares several features with the common metabolic syndrome, namely obesity, hyperinsulinemia, and hypertriglyceridemia. Mutations in the ALMS1 gene have been found to be causative for AS with a total of 79 disease-causing mutations having been described. Case presentation We describe the case of a 27-year old female from an English (Caucasian kindred. She had been initially referred for hypertriglyceridemia, but demonstrated other features suggestive of AS, including blindness, obesity, type 2 diabetes, renal dysfunction, and hypertension. DNA analysis revealed that she is a compound heterozygote with two novel mutations in the ALMS1 gene – H3882Y and V424I. Examination of her family revealed that her phenotypically unaffected mother and younger sister also had heterozygous mutations in the ALMS1 gene. In addition to presenting these novel molecular findings for AS, we review the clinical and genetic features of AS in the context of our case. Conclusion Two novel mutations in the ALMS1 gene causative for AS have been reported here, thereby increasing the number of reported mutations to 81 and providing a wider basis for mutational screening among affected individuals.

  13. Trisomy 4p syndrome: A case report with review

    Energy Technology Data Exchange (ETDEWEB)

    Patel, S.V.; Dagnew, H.; Parekh, A.J. [Long Island College Hospital, Brooklyn, NY (United States)] [and others

    1994-09-01

    We present a case with trisomy of the short arm of chromosome 4, i.e., 46,XX,der(22)t(4;22)(p12;11.2). The most notable clinical findings included: prominent forehead, hypertelorism, small, bulbous nose with depressed and broad bridge, low hairline, retrognathia, notched auricular helix, rocker-bottom feet with prominent heel, arachnodactyly and comptodactyly. An additional, unique finding in our case is the presence of 13 ribs. In the past, the precise characterization of cases with trisomy for the 4p segment has been difficult by routine cytogenetic techniques because the bands involved in this abnormality are quite variable. We used the FISH technique, applying a battery of probes to delineate the genomic morbidity at the molecular level. In our case, the entire short arm is in the trisomic state, yet it could not be identified as a distinct syndrome prior to cytogenetic evaluation. The phenotypic spectrum associated with this gross chromosomal abnormality has been the subject of debate and scrutiny. We provided a comprehensive review of 64 cases and it is concluded that the clinical manifestations of the pure trisomy 4p syndrome are associated with trisomy of the distal two thirds to the entire p arm and that the additional material does not cause a more severe phenotype. Therefore, the molecular characterization of the short arm of chromosome 4 (4p) may be imperative in order to correlate the clinical expression with chromosome bands and ultimately with specific gene(s) in future cases.

  14. Type 1 diabetes and polyglandular autoimmune syndrome: A review

    Science.gov (United States)

    Hansen, Martin P; Matheis, Nina; Kahaly, George J

    2015-01-01

    Type 1 diabetes (T1D) is an autoimmune disorder caused by inflammatory destruction of the pancreatic tissue. The etiopathogenesis and characteristics of the pathologic process of pancreatic destruction are well described. In addition, the putative susceptibility genes for T1D as a monoglandular disease and the relation to polyglandular autoimmune syndrome (PAS) have also been well explored. The incidence of T1D has steadily increased in most parts of the world, especially in industrialized nations. T1D is frequently associated with autoimmune endocrine and non-endocrine diseases and patients with T1D are at a higher risk for developing several glandular autoimmune diseases. Familial clustering is observed, which suggests that there is a genetic predisposition. Various hypotheses pertaining to viral- and bacterial-induced pancreatic autoimmunity have been proposed, however a definitive delineation of the autoimmune pathomechanism is still lacking. In patients with PAS, pancreatic and endocrine autoantigens either colocalize on one antigen-presenting cell or are expressed on two/various target cells sharing a common amino acid, which facilitates binding to and activation of T cells. The most prevalent PAS phenotype is the adult type 3 variant or PAS type III, which encompasses T1D and autoimmune thyroid disease. This review discusses the findings of recent studies showing noticeable differences in the genetic background and clinical phenotype of T1D either as an isolated autoimmune endocrinopathy or within the scope of polyglandular autoimmune syndrome. PMID:25685279

  15. Autoinflammation and Immunomodulation in Inflammatory Fibromyalgia Syndrome- A Review.

    Science.gov (United States)

    Metyas, Samy; Rezk, Tamer; Arkfeld, Daniel; Leptich, Thomas

    2017-01-01

    Generalized pain with tender points in specific areas accompanied by systemic symptoms such as fatigue and stiffness is characteristic of fibromyalgia (FM) syndrome. The genesis of FM is still being investigated with conflicting data on factors including autonomic dysfunction, neurotransmitters, and hormones often in combination with external stressful events. However, recent research is starting to suggest that there is a previously underappreciated subtype of fibromyalgia called inflammatory Fibromyalgia (iFM). Recent studies have described cytokines, inflammatory markers, sleep disorders, hyperalgesia, cognitive dysfunction, serum leptin levels and other inflammatory indicators as potential markers for iFM. This article will; 1) review the inflammatory markers and abnormal levels of other laboratory indicators that can help to identify the subgroup of patients that fall into the new category of Inflammatory Fibromyalgia [1-5] and 2) review all completed trials that were focused on treating this new category of disease. Through this review it is hoped that and further understanding of the complexity of the etiology of fibromyalgia can be explored. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

  16. Hypoplastic left heart syndrome - a review of supportive percutaneous treatment.

    Science.gov (United States)

    Moszura, Tomasz; Góreczny, Sebastian; Dryżek, Paweł

    2014-01-01

    Due to the complex anatomical and haemodynamic consequences of hypoplastic left heart syndrome (HLHS), patients with the condition require multistage surgical and supportive interventional treatment. Percutaneous interventions may be required between each stage of surgical palliation, sometimes simultaneously with surgery as hybrid interventions, or after completion of multistage treatment. Recent advances in the field of interventional cardiology, including new devices and techniques, have significantly contributed to improving results of multistage HLHS palliation. Knowledge of the potential interventional options as well as the limitation of percutaneous interventions will enable the creation of safe and effective treatment protocols in this highly challenging group of patients. In this comprehensive review we discuss the types, goals, and potential complications of transcatheter interventions in patients with HLHS.

  17. [Acute respiratory distress syndrome: a review of the Berlin definition].

    Science.gov (United States)

    de Luis Cabezón, N; Sánchez Castro, I; Bengoetxea Uriarte, U X; Rodrigo Casanova, M P; García Peña, J M; Aguilera Celorrio, L

    2014-01-01

    Acute Respiratory Distress Syndrome (ARDS) is due to many causes. The absence of a universal definition up until now has led to a series of practical problems for a definitive diagnosis. The incidences of ARDS and Acute Lung Injury (ALI) vary widely in the current literature. The American-European Consensus Conference definition has been applied since its publication in 1994 and has helped to improve knowledge about ARDS. However, 18 years later, in 2011, the European Intensive Medicine Society, requested a team of international experts to meet in Berlin to review the ARDS definition. The purpose of the Berlin definition is not to use it as a prognostic tool, but to improve coherence between research and clinical practice. Copyright © 2013 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Published by Elsevier España. All rights reserved.

  18. Fragile X syndrome: A review of clinical management

    Science.gov (United States)

    Lozano, Reymundo; Azarang, Atoosa; Wilaisakditipakorn, Tanaporn; Hagerman, Randi J

    2016-01-01

    Summary The fragile X mental retardation 1 gene, which codes for the fragile X mental retardation 1 protein, usually has 5 to 40 CGG repeats in the 5′ untranslated promoter. The full mutation is the almost always the cause of fragile X syndrome (FXS). The prevalence of FXS is about 1 in 4,000 to 1 in 7,000 in the general population although the prevalence varies in different regions of the world. FXS is the most common inherited cause of intellectual disability and autism. The understanding of the neurobiology of FXS has led to many targeted treatments, but none have cured this disorder. The treatment of the medical problems and associated behaviors remain the most useful intervention for children with FXS. In this review, we focus on the non-pharmacological and pharmacological management of medical and behavioral problems associated with FXS as well as current recommendations for follow-up and surveillance. PMID:27672537

  19. Information processing speed in obstructive sleep apnea syndrome: a review.

    Science.gov (United States)

    Kilpinen, R; Saunamäki, T; Jehkonen, M

    2014-04-01

    To provide a comprehensive review of studies on information processing speed in patients with obstructive sleep apnea syndrome (OSAS) as compared to healthy controls and normative data, and to determine whether continuous positive airway pressure (CPAP) treatment improves information processing speed. A systematic review was performed on studies drawn from Medline and PsycINFO (January 1990-December 2011) and identified from lists of references in these studies. After inclusion criteria, 159 articles were left for abstract review, and after exclusion criteria 44 articles were fully reviewed. The number of patients in the studies reviewed ranged from 10 to 157 and the study samples consisted mainly of men. Half of the studies reported that patients with OSAS showed reduced information processing speed when compared to healthy controls. Reduced information processing speed was seen more often (75%) when compared to norm-referenced data. Psychomotor speed seemed to be particularly liable to change. CPAP treatment improved processing speed, but the improvement was marginal when compared to placebo or conservative treatment. Patients with OSAS are affected by reduced information processing speed, which may persist despite CPAP treatment. Information processing is usually assessed as part of other cognitive functioning, not as a cognitive domain per se. However, it is important to take account of information processing speed when assessing other aspects of cognitive functioning. This will make it possible to determine whether cognitive decline in patients with OSAS is based on lower-level or higher-level cognitive processes or both. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  20. Three Siblings with Prader-Willi Syndrome: Brief Review of Sleep and Prader-Willi Syndrome

    Directory of Open Access Journals (Sweden)

    Arina Bingeliene

    2015-01-01

    Full Text Available Prader-Willi syndrome (PWS is a genetic disorder characterized by short stature, mental retardation, hypotonia, functionally deficient gonads, and uncontrolled appetite leading to extreme obesity at an early age. Patients with this condition require multidisciplinary medical care, which facilitates a significant improvement in quality of life. PWS is the first human disorder to be attributed to genomic imprinting. Prevalence varies in the literature, ranging from 1 in 8,000 in the Swedish population to 1 in 54,000 in the United Kingdom. Rarely, the genetic mechanism responsible for Prader-Willi syndrome can be inherited. We report a highly unique case of three siblings who share this condition. This report describes a case of two brothers and one half sister with PWS. All three siblings have sleep-related complaints. The sister died at the age of 24 years in her sleep, with the cause of death reported as obstructive sleep apnea. The outcome was positive in both of the brothers’ cases as a result of professional medical care and specific tailored recommendations implemented by their mother. A review of the relevant literature vis-à-vis sleep and PWS is provided.

  1. Turner′s syndrome presenting as metabolic bone disease

    Directory of Open Access Journals (Sweden)

    Sadishkumar Kamalanathan

    2012-01-01

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

  2. A review of treatment approaches of Myofascial Pain Dysfunction Syndrome

    Directory of Open Access Journals (Sweden)

    Arash Mansuorian

    2017-03-01

    Full Text Available Masticatory muscle pain is the second most frequent cause of orofacial pain after dental pain. Myofascial pain dysfunction syndrome (MPDS is the most common form of temporomandibular joint dysfunction. MPDS is a pain that triggers from [sensitive] points in the muscles and fascia and is followed by spasm, tenderness to palpation, restricted movement, fatigue, and sometimes dysfunction. The researchers intended to collect comprehensive information about therapeutic interventions for myofascial pain through the conduction of a critical study based on evidence in the literature. In this review, 51 English articles, published between 1981 and 2013, were extracted from PubMed, Medline, Ovid, and Google Scholar. These articles were then reviewed in detail in two categories, namely pharmaceutical and non-pharmaceutical treatments. MPDS treatment should be first focused on the identification and correction of underlying causes. Thiocolchicoside (TCC, non-steroidal anti-inflammatory drugs (NSAIDs, and Cox-2 inhibitors are among promising pharmaceutical methods. On the other hand, ultrasound and laser therapy are among promising non-pharmaceutical methods. The complex mechanism of MPDS, along with its underlying peripheral and central nervous mechanisms may make MPDS, difficult to treat, especially in its chronic form.

  3. Hormonal aspects of overtraining syndrome: a systematic review.

    Science.gov (United States)

    Cadegiani, Flavio A; Kater, Claudio E

    2017-01-01

    Overtraining syndrome (OTS), functional (FOR) and non-functional overreaching (NFOR) are conditions diagnosed in athletes with decreased performance and fatigue, triggered by metabolic, immune, hormonal and other dysfunctions and resulted from an imbalance between training stress and proper recovery. Despite previous descriptions, there is a lack of a review that discloses all hormonal findings in OTS/FOR/NFOR. The aim of this systematic review is to evaluate whether and which roles hormones play in OTS/FOR/NFOR. A systematic search up to June 15 th , 2017 was performed in the PUBMED, MEDLINE and Cochrane databases following PRISMA protocol, with the expressions: (1)overtraining, (2)overreaching, (3)overtrained, (4)overreached, or (5)underperformance, and (plus) (a)hormone, (b)hormonal, (c)endocrine, (d)adrenal, (e)cortisol, (f)GH, (g)ACTH, (h)testosterone, (i)IGF-1, (j)TSH, (k)T4, (l)T3, (m)LH, (n)FSH, (o)prolactin, (p) IGFBP-3 and related articles. A total of 38 studies were selected. Basal levels of hormones were mostly normal in athletes with OTS/FOR/NFOR compared with healthy athletes. Distinctly, stimulation tests, mainly performed in maximal exercise conditions, showed blunted GH and ACTH responses in OTS/FOR/NFOR athletes, whereas cortisol and plasma catecholamines showed conflicting findings and the other hormones responded normally. Basal hormone levels are not good predictor but blunted ACTH and GH responses to stimulation tests may be good predictors of OTS/FOR/NFOR.

  4. Systematic review of chronic pain in persons with Marfan syndrome.

    Science.gov (United States)

    Velvin, G; Bathen, T; Rand-Hendriksen, S; Geirdal, A Ø

    2016-06-01

    The purpose of this study was to explore the literature on chronic pain in adults with Marfan syndrome (MFS), critically appraising and synthesizing relevant literature. A systematic review was conducted by searching the published literature databases using available medical, physical, psychological, social databases and other sources. All studies that addressed pain in MFS, published in peer-reviewed journals were assessed. Of 351 search results, 18 articles satisfied the eligibility criteria. All studies were cross-sectional and quantitative; no randomized controlled trials or intervention studies were found. Most studies had small sample sizes, low response rates and mainly dealt with other aspects of the diagnosis than pain. Only one article dealt mainly with pain. The research on chronic pain in MFS is limited in size and quality. Despite these limitations, studies describe that the prevalence of pain in patients with MFS is high, varying from 47 to 92% and affecting several anatomic sites. In addition, chronic pain limits daily function and few studies describe treatment options for pain in patients with MFS. Research is needed to obtain more evidence-based knowledge for developing more appropriate rehabilitation programs for people with MFS. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  5. Sleep in Angelman syndrome: A review of evidence.

    Science.gov (United States)

    Spruyt, Karen; Braam, Wiebe; Curfs, Leopold Mg

    2018-02-01

    Sleep problems are reported to be extremely prevalent in individuals with developmental disabilities. The consensus guidelines for Angelman syndrome (AS) consider abnormal sleep-wake cycles and diminished need for sleep as associated features. We report an integrative research review and a meta-analysis of studies with sleep as the primary aim of investigation in an AS sample. 14 studies met eligibility criteria with half of them being surveys. Thirteen of the 17 conceptually formed sleep disorder item-groups showed to be significant for individuals with AS. There is evidence that arousal during sleep, somnolence and possibly short sleep duration are the primary sleep problems in individuals with AS. According to the results of this review and meta-analyses, there is clear evidence for sleep problems in individuals with AS. Individual effect sizes remain overall small, but nevertheless findings suggest disorders of arousal and sleepiness to be distinctive. In light of these findings, other sleep complaints in individuals with AS should be carefully examined. Consistent standards for research on sleep in individuals with AS are critical for new lines of investigation. Copyright © 2017 Elsevier Ltd. All rights reserved.

  6. Fragile X syndrome: a review of associated medical problems.

    Science.gov (United States)

    Kidd, Sharon A; Lachiewicz, Ave; Barbouth, Deborah; Blitz, Robin K; Delahunty, Carol; McBrien, Dianne; Visootsak, Jeannie; Berry-Kravis, Elizabeth

    2014-11-01

    Fragile X syndrome (FXS) is the most common known genetic cause of inherited intellectual disability and the most common known single-gene cause of autism spectrum disorder. It has been reported that a spectrum of medical problems are commonly experienced by people with FXS, such as otitis media, seizures, and gastrointestinal problems. Previous studies examining the prevalence of medical problems related to FXS have been challenging to interpret because of their marked differences in population, setting, and sampling. Through this comprehensive review, we update the literature by reviewing studies that have reported on prominent medical problems associated with FXS. We then compare prevalence results from those studies with results from a large cross-sectional database consisting of data collected by fragile X clinics that specialize in the care of children with FXS and are part of the Fragile X Clinical and Research Consortium. It is vital for pediatricians and other clinicians to be familiar with the medical problems related to FXS so that affected patients may receive proper diagnosis and treatment; improved care may lead to better quality of life for these patients and their families. Copyright © 2014 by the American Academy of Pediatrics.

  7. Public Health Literature Review of Fragile X Syndrome.

    Science.gov (United States)

    Raspa, Melissa; Wheeler, Anne C; Riley, Catharine

    2017-06-01

    The purpose of this systematic literature review is to describe what is known about fragile X syndrome (FXS) and to identify research gaps. The results can be used to help inform future public health research and provide pediatricians with up-to-date information about the implications of the condition for individuals and their families. An electronic literature search was conducted, guided by a variety of key words. The search focused on 4 areas of both clinical and public health importance: (1) the full mutation phenotype, (2) developmental trajectories across the life span, (3) available interventions and treatments, and (4) impact on the family. A total of 661 articles were examined and 203 were included in the review. The information is presented in the following categories: developmental profile (cognition, language, functional skills, and transition to adulthood), social-emotional profile (cooccurring psychiatric conditions and behavior problems), medical profile (physical features, seizures, sleep, health problems, and physiologic features), treatment and interventions (educational/behavioral, allied health services, and pharmacologic), and impact on the family (family environment and financial impact). Research gaps also are presented. The identification and treatment of FXS remains an important public health and clinical concern. The information presented in this article provides a more robust understanding of FXS and the impact of this complex condition for pediatricians. Despite a wealth of information about the condition, much work remains to fully support affected individuals and their families. Copyright © 2017 by the American Academy of Pediatrics.

  8. Tietze's syndrome: case report and literature review | Chuhwak ...

    African Journals Online (AJOL)

    The case report is on Tietze's syndrome – a disorder that is quite rare. Costochondritis has been thought to be synonymous with Tietze's syndrome until recently [2002] when costochondritis was differentiated from Tietze's syndrome. Costochondritis is inflammation of the costochondral joints without swelling. Tietze's ...

  9. H Syndrome: A case report and review of literature

    Directory of Open Access Journals (Sweden)

    Dilip Meena

    2018-01-01

    Full Text Available H syndrome is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, hyperglycaemia, low height, and hallux valgus. We report a case of this syndrome with typical clinical findings. We report this case citing the rarity of this uncommon entity.

  10. H Syndrome: A Case Report and Review of Literature

    Science.gov (United States)

    Meena, Dilip; Chauhan, Payal; Hazarika, Neirita; Kansal, Naveen Kumar

    2018-01-01

    H syndrome is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, hyperglycaemia, low height, and hallux valgus. We report a case of this syndrome with typical clinical findings. We report this case citing the rarity of this uncommon entity. PMID:29527032

  11. CHARGE syndrome : a review of the immunological aspects

    NARCIS (Netherlands)

    Wong, Monica T. Y.; Scholvinck, Elisabeth H.; Lambeck, Annechien J. A.; van Ravenswaaij-Arts, Conny M. A.

    2015-01-01

    CHARGE syndrome is caused by a dominant variant in the CHD7 gene. Multiple organ systems can be affected because of haploinsufficiency of CHD7 during embryonic development. CHARGE syndrome shares many clinical features with the 22q11.2 deletion syndrome. Immunological abnormalities have been

  12. Fragile X syndrome: a review of clinical and molecular diagnoses.

    Science.gov (United States)

    Ciaccio, Claudia; Fontana, Laura; Milani, Donatella; Tabano, Silvia; Miozzo, Monica; Esposito, Susanna

    2017-04-19

    Fragile X Syndrome (FXS) is the second cause of intellectual disability after Down syndrome and the most prevalent cause of intellectual disability in males, affecting 1:5000-7000 men and 1:4000-6000 women. It is caused by an alteration of the FMR1 gene, which maps at the Xq27.3 band: more than 99% of individuals have a CGG expansion (>200 triplets) in the 5' UTR of the gene, and FMR1 mutations and duplication/deletion are responsible for the remaining (<1%) molecular diagnoses of FXS. The aim of this review was to gather the current clinical and molecular knowledge about FXS to provide clinicians with a tool to guide the initial assessment and follow-up of FXS and to offer to laboratory workers and researchers an update about the current diagnostic procedures. FXS is a well-known condition; however, most of the studies thus far have focused on neuropsychiatric features. Unfortunately, some of the available studies have limitations, such as the paucity of patients enrolled or bias due to the collection of the data in a single-country population, which may be not representative of the average global FXS population. In recent years, insight into the adult presentation of the disease has progressively increased. Pharmacological treatment of FXS is essentially symptom based, but the growing understanding of the molecular and biological mechanisms of the disease are paving the way to targeted therapy, which may reverse the effects of FMRP deficiency and be a real cure for the disease itself, not just its symptoms. The clinical spectrum of FXS is wide, presenting not only as an isolated intellectual disability but as a multi-systemic condition, involving predominantly the central nervous system but potentially affecting any apparatus. Given the relative high frequency of the condition and its complex clinical management, FXS appears to have an important economic and social burden.

  13. Prenatal risk factors for Tourette Syndrome: a systematic review.

    Science.gov (United States)

    Chao, Ting-Kuang; Hu, Jing; Pringsheim, Tamara

    2014-01-30

    Tourette Syndrome (TS) appears to be an inherited disorder, although genetic abnormalities have been identified in less than 1% of patients, and the mode of inheritance is uncertain. Many studies have investigated environmental factors that might contribute to the onset and severity of tics and associated comorbidities such as obsessive compulsive disorder (OCD) and attention deficit hyperactive disorder (ADHD). A systematic review and qualitative analysis were performed to provide a broad view of the association between pre- and perinatal factors and TS. The Medline, Embase and PsycINFO databases were searched using terms specific to Tourette's syndrome and keywords such as "pregnancy", "prenatal", "perinatal", "birth" and "neonatal". Studies were limited to studies on human subjects published in English or French through October 2012. 22 studies were included. Studies were of limited methodological quality, with most samples derived from specialty clinics, and most exposures ascertained retrospectively. The majority of the results for demographic factors of parents, including age, education, socioeconomic status, and marital status, revealed no significant association with the onset of TS, or the presence of comorbidity. Many factors were reported to be significantly associated with the onset of TS, the presence of comorbidity and symptom severity, but the most consistently reported factors were maternal smoking and low birth weight. There are few studies evaluating the relationship between pre and perinatal events and TS, and existing studies have major limitations, including the use of clinic rather than epidemiologically derived samples, retrospective data collection on pre and perinatal events and multiple hypothesis testing without appropriate statistical correction. The mechanism by which prenatal and perinatal adversities could lead to TS onset or symptom severity is unknown, but may be related to changes in the dopaminergic system as a result of early

  14. Prenatal risk factors for Tourette Syndrome: a systematic review

    Science.gov (United States)

    2014-01-01

    Background Tourette Syndrome (TS) appears to be an inherited disorder, although genetic abnormalities have been identified in less than 1% of patients, and the mode of inheritance is uncertain. Many studies have investigated environmental factors that might contribute to the onset and severity of tics and associated comorbidities such as obsessive compulsive disorder (OCD) and attention deficit hyperactive disorder (ADHD). A systematic review and qualitative analysis were performed to provide a broad view of the association between pre- and perinatal factors and TS. Methods The Medline, Embase and PsycINFO databases were searched using terms specific to Tourette’s syndrome and keywords such as “pregnancy”, “prenatal”, “perinatal”, “birth” and “neonatal”. Studies were limited to studies on human subjects published in English or French through October 2012. Results 22 studies were included. Studies were of limited methodological quality, with most samples derived from specialty clinics, and most exposures ascertained retrospectively. The majority of the results for demographic factors of parents, including age, education, socioeconomic status, and marital status, revealed no significant association with the onset of TS, or the presence of comorbidity. Many factors were reported to be significantly associated with the onset of TS, the presence of comorbidity and symptom severity, but the most consistently reported factors were maternal smoking and low birth weight. Conclusions There are few studies evaluating the relationship between pre and perinatal events and TS, and existing studies have major limitations, including the use of clinic rather than epidemiologically derived samples, retrospective data collection on pre and perinatal events and multiple hypothesis testing without appropriate statistical correction. The mechanism by which prenatal and perinatal adversities could lead to TS onset or symptom severity is unknown, but may be related

  15. Angelman syndrome: A review highlighting musculoskeletal and anatomical aberrations.

    Science.gov (United States)

    Sachdeva, Rohit; Donkers, Sarah J; Kim, Soo Y

    2016-07-01

    Angelman's syndrome (AS) is a genetic neurodevelopment disorder. The cause is a known abnormality involving the maternal inherited ubiquitin-protein ligase (UBE3A) gene. Clinical characteristics universal to the disorder are well documented in the literature and include developmental delay, seizures, ataxia, altered tone, severely impaired speech and intellect, as well as an overall happy demeanor, frequent bouts of laughter, and hypermotoric behavior. Associated with this disorder are several musculoskeletal aberrations. To date, a review of case studies reporting on these musculoskeletal changes has not been carried out. Thus, the purpose of this paper was to provide an overview of the musculoskeletal changes present in individuals with AS. In our review of 21 case reports from 1965-2013, the most consistently reported anatomical changes were of the craniofacial region. These include microcephaly, brachycephaly, a palpable occipital groove, prognathism, and wide spaced teeth. Other musculoskeletal abnormalities less frequently reported in the literature include scoliosis, excessive lumbar lordosis, and pes planus. Given that the majority of the case reports reviewed was of young children, the possibility of underreporting musculoskeletal changes which may manifest in the later years of life may be present. Early diagnosis and interventions to minimize secondary complications are crucial to maintain quality of life. An overall multidisciplinary approach is emphasized to maximize developmental potential for these individuals. Future prospective studies that follow patients into adulthood are needed to better understand the prevalence and development of secondary musculoskeletal changes, which in turn can inform intervention techniques and preventative measures. Clin. Anat. 29:561-567, 2016. © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.

  16. Review of the pathophysiological aspects involved in urological disease associated with metabolic syndrome.

    Science.gov (United States)

    Sáenz Medina, J; Carballido Rodríguez, J

    2016-06-01

    Metabolic syndrome is a constellation of disorders that includes insulin resistance, central obesity, arterial hypertension and hyperlipidaemia. These disorders can have implications for the genitourinary apparatus. To conduct a review on the pathophysiological aspects that explain the relationship between metabolic syndrome and sexual dysfunction, lower urinary tract syndrome, prostate cancer and stone disease. We performed a qualitative, narrative literature review through a literature search on PubMed of articles published between 1997 and 2015, using the terms pathophysiology, metabolic syndrome, endothelial dysfunction, lipotoxicity, mitochondrial dysfunction, kidney stones, hypogonadism, erectile dysfunction, lower urinary tract syndrome and prostate cancer. Metabolic syndrome constitutes an established complex of symptoms, defined as the presence of insulin resistance, central obesity, hypertension and hyperlipidaemia. Endothelial dysfunction secondary to lipotoxicity generates an inflammatory state, which involves renal cell metabolism, vascularisation of the pelvis and androgen production. These facts explain the relationship between metabolic syndrome, nephrolithiasis, lower urinary tract syndrome, hypogonadism and erectile dysfunction in men. Strategies such as proper diet, regular exercise, insulin treatment, testosterone-replacement therapy, therapy with antioxidants and free-radical inhibitors and urological treatments classically used for lower urinary tract syndrome have shown promising results in this syndrome. Copyright © 2015 AEU. Publicado por Elsevier España, S.L.U. All rights reserved.

  17. 47,XXX/45,X/46,XX mosaicism in a patient with Turner phenotype and spontaneous puberal development.

    Science.gov (United States)

    Brambila-Tapia, Aniel Jessica Leticia; Rivera, Horacio; García-Castillo, Herbert; Domínguez-Quezada, Maria Guadalupe; Dávalos-Rodríguez, Ingrid Patricia

    2009-11-01

    To describe a patient with infertility and phenotypic combination of Turner and triple-X syndrome related to mos 47,XXX/45X/46,XX karyotype. Case report. División de Genética, Centro de Investigación Biomédica de Occidente and Hospital de Ginecología y Obstetricia, CMNO, Instituto Mexicano del Seguro Social. The 24-year-old patient presented a phenotypic combination of Turner syndrome and X polysomy. She showed wide and short neck, low posterior hairline, cubitus valgus, bilateral shortening of the fourth and fifth metacarpals, multiple nevi, and müllerian anomalies but had spontaneous pubarche, thelarche, and menarche. Laboratory evaluations, imaging studies, ovarian biopsy, G-banding karyotype, and in situ fluorescence hybridization. Clinical and laboratory findings. A karyotype: mos 47,XXX/45X/46,XX was found in the cytogenetic studies, a bicornuate uterus in the ultrasonographic scan, and a normal ovarian profile in the laboratory tests. The infertility in the present case can be related to either bicornuate uterus or subclinical abortions due to aneuploid ova. Cytogenetic assessment provides important information regarding infertile patients with uterine factors and short stature.

  18. Pediatric Nonfracture Acute Compartment Syndrome: A Review of 39 Cases.

    Science.gov (United States)

    Livingston, Kristin; Glotzbecker, Michael; Miller, Patricia E; Hresko, Michael T; Hedequist, Daniel; Shore, Benjamin J

    2016-01-01

    Compartment syndrome in the absence of fracture is rare and poorly described within the pediatric literature. The purpose of this study was to report the varying etiologies, risk factors, and treatment outcomes associated with pediatric nonfracture acute compartment syndrome (NFACS). We conducted a retrospective chart review on 37 children who suffered a NFACS and were treated at a single pediatric trauma center between 1997 and 2013. Demographic, diagnostic, treatment, and outcome characteristics were reviewed. Five causal groups were generated: trauma, exercise related (acute presentation after exercise without trauma), infectious, vascular, and postoperative (in the absence of osteotomy). Univariate and multivariate analyses were performed to identify risk factors of NFACS. P-values 39 cases of NFRCS in 37 children [6 females, 31 males, mean age of 11.7 y (SD+7.2 y)]. The leg was the most commonly involved limb (29 cases, 74%). Diagnosis of NFRCS was made either by compartment pressure monitoring [59%, 23/39 cases, mean pressure 66 mm Hg (SD+28)] or by clinical examination. According to etiology, vascular was most common (11/39, 28%), followed by trauma (10/39, 26%) and postoperative (8/39, 21%), with exertion and infection representing a small proportion (6/39, 15% and 4/39, 10%, respectively). Pain was present in 33 cases (85%), swelling in 28 cases (72%), paresthesias in 13 cases (33%), motor deficit in 12 cases (31%), and poor perfusion in 11 cases (28%). Average time from symptom onset to diagnosis was 48 hours (IQR, 9 to 96 h). At surgery, 21 patients (54%) had evidence of myonecrosis. Children required an average of 3 surgeries for wound closure. The median time to follow-up was 232 days (IQR, 73 to 608 d). A total of 54% made a full recovery, whereas 31% suffered a persistent neurological or functional deficit. NFACS in children is associated with a delay in diagnosis and a high rate of myonecrosis. Timely assessment with high clinical suspicion is

  19. A review of statistical methods for testing genetic anticipation: looking for an answer in Lynch syndrome

    DEFF Research Database (Denmark)

    Boonstra, Philip S; Gruber, Stephen B; Raymond, Victoria M

    2010-01-01

    in one of the three main mismatch repair (MMR) genes. In contrast to the clinic-based population, we re-analyze data on a population-based Lynch syndrome cohort, derived from the Danish HNPCC-register. Both datasets indicate evidence of genetic anticipation in Lynch syndrome. We then expand our review...

  20. Anesthetic management of Shah–Waardenburg syndrome: Experience of two cases and review of literature

    Science.gov (United States)

    Ambi, Uday S.; Adarsh, E. S.; Hatti, Ramesh; Samalad, Vijaymahantesh

    2012-01-01

    Waardenburg syndrome (WS) is a rare autosomally inherited and genetically heterogeneous disorder of neural crest cell development. Literature regarding the anesthetic management of these cases is limited. We present 2 cases of Shah–Waardenburg syndrome and discuss them in the context of review of previously published cases. PMID:22754447