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Sample records for largevestibular aqueduct syndrome

  1. Vertical diplopia and oscillopsia due to midbrain keyhole aqueduct syndrome associated with severe cough

    Directory of Open Access Journals (Sweden)

    Angela Jinsook Oh

    2018-06-01

    Full Text Available Purpose: Midline structural defects in the neural axis can give rise to neuro-ophthalmic symptoms. We report a rare case of keyhole aqueduct syndrome presenting after two years of severe cough due to gastroesophageal reflux disease. Observations: A 58-year-old woman with a 2-year history of daily, severe cough presented to the neuro-ophthalmology clinic with progressive diplopia and oscillopsia. Examination revealed a 1–2 Hz down-beating nystagmus in primary gaze that worsened with left, right, and down gazes. Gaze evoked nystagmus and mild paresis were also seen with up gaze. There was an incomitant left hypertropia due to skew deviation that worsened with right and up gazes and improved with down gaze. She also had a right-sided ptosis and a 3 mm anisocoria not due to cranial nerve 3 paresis or Horner's syndrome. Brain magnetic resonance imaging showed a 1.5 mm × 11.7 mm × 6 mm midline cleft in the ventral midbrain communicating with the cerebral aqueduct, consistent with keyhole aqueduct syndrome. Her nystagmus and diplopia improved with oral acetazolamide treatment, at high doses of 2500–3000 mg per day. Conclusions and importance: We report the first case of midbrain keyhole aqueduct syndrome with ocular motor and other neuro-ophthalmic manifestations associated with severe cough. Although her cough was effectively treated and intracranial pressure measurement was normal, her ophthalmic symptoms continued to progress, which is common in previous cases reported. Treatment with acetazolamide led to significant improvement, supporting the use of acetazolamide in this rare condition. Keywords: Keyhole aqueduct syndrome, Midbrain cleft, Mesencephalic cleft, Syrinx, Syringobulbia, Down-beating nystagmus, Cerebrospinal fluid

  2. Cine-MR imaging aqueductal CSF flow in normal pressure hydrocephalus syndrome before and after CSF shunt

    International Nuclear Information System (INIS)

    Mascalchi, M.; Arnetoli, G.; Inzitari, D.; Dal Pozzo, G.; Lolli, F.; Caramella, D.; Bartolozzi, C.

    1993-01-01

    Reproducibility of the aqueductal CSF signal intensity on a gradient echo cine-MR sequence exploiting through plane inflow enhancement was tested in 11 patients with normal or dilated ventricles. Seven patients with normal pressure hydrocephalus (NPH) syndrome were investigated with the sequence before and after CSF shunting. Two patients exhibiting central flow void within a hyperintense aqueductal CSF improved after surgery and the flow void disappeared after shunting. One patient with increased maximum and minimum aqueductal CSF signal as compared to 18 healthy controls also improved and the aqueductal CSF signal was considerably decreased after shunting. Three patients with aqueductal CSF values similar to those in the controls did not improve, notwithstanding their maximum aqueductal CSF signals decreasing slightly after shunting. No appreciable aqueductal CSF flow related enhancement consistent with non-communicating hydrocephalus was found in the last NPH patient who improved after surgery. Cine-MR with inflow technique yields a reproducible evaluation of flow-related aqueductal CSF signal changes which might help in identifying shunt responsive NPH patients. These are likely to be those with hyperdynamic aqueductal CSF or aqueductal obstruction. (orig.)

  3. Vertical diplopia and oscillopsia due to midbrain keyhole aqueduct syndrome associated with severe cough.

    Science.gov (United States)

    Oh, Angela Jinsook; Lanzman, Bryan Alexander; Liao, Yaping Joyce

    2018-06-01

    Midline structural defects in the neural axis can give rise to neuro-ophthalmic symptoms. We report a rare case of keyhole aqueduct syndrome presenting after two years of severe cough due to gastroesophageal reflux disease. A 58-year-old woman with a 2-year history of daily, severe cough presented to the neuro-ophthalmology clinic with progressive diplopia and oscillopsia. Examination revealed a 1-2 Hz down-beating nystagmus in primary gaze that worsened with left, right, and down gazes. Gaze evoked nystagmus and mild paresis were also seen with up gaze. There was an incomitant left hypertropia due to skew deviation that worsened with right and up gazes and improved with down gaze. She also had a right-sided ptosis and a 3 mm anisocoria not due to cranial nerve 3 paresis or Horner's syndrome. Brain magnetic resonance imaging showed a 1.5 mm × 11.7 mm × 6 mm midline cleft in the ventral midbrain communicating with the cerebral aqueduct, consistent with keyhole aqueduct syndrome. Her nystagmus and diplopia improved with oral acetazolamide treatment, at high doses of 2500-3000 mg per day. We report the first case of midbrain keyhole aqueduct syndrome with ocular motor and other neuro-ophthalmic manifestations associated with severe cough. Although her cough was effectively treated and intracranial pressure measurement was normal, her ophthalmic symptoms continued to progress, which is common in previous cases reported. Treatment with acetazolamide led to significant improvement, supporting the use of acetazolamide in this rare condition.

  4. MR imaging features and clinical value of vestibular aqueduct and endolymphatic sac in patients with large vestibular aqueduct syndrome

    International Nuclear Information System (INIS)

    Fang Zheming; Lou Xin; Lan Lan; Wang Hui; Wang Qiuju; Wu Nanzhou; Zhang Xiaojing

    2012-01-01

    Objective: To investigate MR imaging features of endolymphatic sac and vestibular aqueduct in patients with large vestibular aqueduct syndrome (LVAS) and its correlation with hearing loss. Methods: MR imaging findings of LVAS were analyzed in 31 cases (62 ears) retrospectively. MR imaging features were grouped into 4 types. In the first type, the signals of endolymphatic and vestibular aqueduct were hypointense without any hyperintense area. In the second type, the signals of endolymphatic sac and vestibular were hyperintense which were confined within vestibular fissure. In the third type, the area from vestibular aqueduct backward out of the edge of the petrous bone was hyperintense, but its lower boundary was above posterior semicircular. In the fourth type the area which was hyperintense was below the posterior semicircular. To avoid errors in visual inspection, the hyperintense and hypointense area of endolymphatic and the signal intensity of vestibular aqueduct and cerebrospinal fluid (CSF) were measured. The differences of signal intensity among the vestibular endolymphatic sac between the high-signal areas and low signal areas were compared with paired t-test. The correlation of the endolymphatic sac MRI classification and degree of hearing loss was analyzed by corrected Chi-square test and Spearman correlation analysis. Result: Ten ears belonged to type Ⅰ (moderate hearing loss in 1 ear,severe in 4 ears,profound in 5 ears), 17 ears belonged to type Ⅱ (moderate hearing loss in 1 ear; severe in 5 ears,profound in 11 ears), 23 ears to type Ⅲ (moderate hearing loss in 3 ear, severe in 5 ears, profound in 15 ears) and 12 ears belonged to Ⅳ (mild hearing loss in 1 ear, moderate in 1 ear, severe 3 ear, profound in 7 ears). The boundary between hyperintense and hypointense area was clear, and the signal intensity ratios was 2.02 ± 0.06. The signal ratios of hyperintense and hypointense area to vestibular and CSF were 0.95 ±0.12, 0.49 ±0.10, 0.99 ± 0

  5. Computed tomography findings in large vestibular aqueduct syndrome.

    Science.gov (United States)

    Ma, Xiufang; Yang, Ying; Xia, Ming; Li, Dumin; Xu, Anting

    2009-07-01

    Patients with large vestibular aqueduct syndrome (LVAS) have disturbed morphogenesis of bony labyrinth. Semicircular canal anomalies are common in LVAS. To describe the additional inner ear anomalies on CT imaging in pediatric patients with LVAS, and to investigate the lateral semicircular canal (LSCC) anomalies associated with LVAS by measurement of the LSCC bony island width. We retrospectively reviewed the digitally stored temporal bone CT imaging obtained for 23 patients with LVAS, additional inner ear anomalies were noted, and measurements of the LSCC bony island width were made on axial CT scans on the workstation. Measurements were compared to the normative data obtained from 20 patients without sensorineural hearing loss. Of the 23 patients (bilateral in 22 and unilateral in 1), additional inner ear malformations were identified in 21 cases presenting either singly or in combination. A small LSCC bony island (Mondini deformity was identified in 6 ears.

  6. Does aqueductal stenosis influence the lumbar infusion test in normal-pressure hydrocephalus?

    Science.gov (United States)

    González-Martínez, Emilio Luis; Santamarta, David

    2016-12-01

    Late-onset idiopathic aqueductal stenosis may present with clinical features indistinct from idiopathic normal-pressure hydrocephalus (NPH). Moreover, aqueductal stenosis (AS) is not always detected by conventional magnetic resonance imaging (MRI). The aim of this study was to compare the hydrodynamic pattern among NPH patients according to the patency of the aqueduct. Fifty-six consecutive lumbar infusion tests were performed in patients with NPH syndrome. Precipitating causes of hydrocephalus were excluded, and aqueductal patency was examined through high-resolution, T2-weighted 3D MRI. Patients were classified into two groups: non-patent aqueduct and patent aqueduct. Mean values of pressure and pulse amplitude were obtained from basal and plateau stages of infusion studies. Twelve of 56 patients with NPH-like symptoms presented with morphological AS (21.4 %). Patent aqueduct and non-patent aqueduct groups had similar values of mean opening lumbar pressure (8.2 vs. 8.1 mmHg), and mean opening pulse amplitude (3.1 vs. 2.9 mmHg). Mean pressure in the plateau stage (28.6 vs. 23.2 mmHg), and mean pulse amplitude in the plateau stage (12.5 vs. 10.6 mmHg) were higher in the patent aqueduct group. These differences were not statistically significant. Only Rout was significantly higher in the patent aqueduct group (13.6 vs. 10.1 mmHg/ml/min). One-third of NPH patients with AS presented Rout >12 mmHg/ml/min. No differences in mean pressure or pulse amplitude during basal and plateau epochs of the lumbar infusion test in NPH patients were detected, regardless of aqueductal patency. However, Rout was significantly higher in patients with patent aqueduct.

  7. Investigation of the vestibular aqueduct and the cochlear aqueduct by temboral bone CT scan

    International Nuclear Information System (INIS)

    Shimizu, Ryuichi; Kamei, Tamio; Ito, Fumihide

    1984-01-01

    The visualization of the vestibular aqueduct and the cochlear aqueduct was investigated by temporal bone CT scan. The vestibular aqueduct was visualized in horizontal CT sections of 70.0% of normal ears, 61.5% of ears with chronic otitis media, 58.3% of ears with combined hearing impairment, 66.7% of ears in cases of sudden deafness, 70.8% of ears of patients with sensorineural hearing impairment without sudden deafness, 71.4% of cases of vertigo without hearing impairment and 12.5% of both diseased and contralateral ears of patients with Meniere's disease. Only in Meniere's disease was the vestibular aqueduct less visible in the diseased than in the normal ear (P<0.01). The cochlear aqueduct was visible in coronal sections of 50.0% of normal ears, 76.9% of those with chronic otitis media, 58.3% of those with combined hearing impairment, 66.7% of those with sudden deafness 41.7% of those with sensorineural hearing impairment without sudden deafness, 50.0% of the diseased ears of patients with Meniere's disease, 37.5% of the contralateral ears of those with Meniere's disease and 64.3% of those with vertigo without hearing impairment. Although the cochlear aqueduct was thus highly demonstrable in patients with chronic otitis media or sudden deafness, the difference between the percentage of visualization in these diseased and in normal ears was not statistically significant. (author)

  8. Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct

    OpenAIRE

    Huang, Shasha; Han, Dongyi; Yuan, Yongyi; Wang, Guojian; Kang, Dongyang; Zhang, Xin; Yan, Xiaofei; Meng, Xiaoxiao; Dong, Min; Dai, Pu

    2011-01-01

    Abstract Background Mutations in SLC26A4 cause Pendred syndrome (hearing loss with goiter) or DFNB4 (non-syndromic hearing loss with inner ear malformation, such as enlarged vestibular aqueduct or Mondini deformity). The relationship between mutations in SLC26A4 and Mondini deformity without enlarged vestibular aqueduct has not been studied in any Chinese deaf population. The purpose of this study was to assess whether mutations in the SLC26A4 gene cause Mondini deformity without an enlarged ...

  9. Morphological analysis of the vestibular aqueduct by computerized tomography images

    International Nuclear Information System (INIS)

    Marques, Sergio Ricardo; Smith, Ricardo Luiz; Isotani, Sadao; Alonso, Luis Garcia; Anadao, Carlos Augusto; Prates, Jose Carlos; Lederman, Henrique Manoel

    2007-01-01

    Objective: In the last two decades, advances in the computerized tomography (CT) field revise the internal and medium ear evaluation. Therefore, the aim of this study is to analyze the morphology and morphometric aspects of the vestibular aqueduct on the basis of computerized tomography images (CTI). Material and method: Computerized tomography images of vestibular aqueducts were acquired from patients (n = 110) with an age range of 1-92 years. Thereafter, from the vestibular aqueducts images a morphometric analysis was performed. Through a computerized image processing system, the vestibular aqueduct measurements comprised of its area, external opening, length and the distance from the vestibular aqueduct to the internal acoustic meatus. Results: The morphology of the vestibular aqueduct may be funnel-shaped, filiform or tubular and the respective proportions were found to be at 44%, 33% and 22% in children and 21.7%, 53.3% and 25% in adults. The morphometric data showed to be of 4.86 mm 2 of area, 2.24 mm of the external opening, 4.73 mm of length and 11.88 mm of the distance from the vestibular aqueduct to the internal acoustic meatus, in children, and in adults it was of 4.93 mm 2 , 2.09 mm, 4.44 mm, and 11.35 mm, respectively. Conclusions: Computerized tomography showed that the vestibular aqueduct presents high morphological variability. The morphometric analysis showed that the differences found between groups of children and adults or between groups of both genders were not statistically significant

  10. Hydrogeological Characteristics of Hellenic Aqueducts-Like Qanats

    Directory of Open Access Journals (Sweden)

    Andreas N. Angelakis

    2013-09-01

    Full Text Available In ancient Hellas, water management began in the early Minoan Era (ca. 3200–1100 BC and was related to the geomorphology, the geology, the topography, and the local climatic, hydrological, and socio-political conditions. Historical and archaeological evidences show that ancient Greeks had developed even qanat-related technologies since the Classical times. During democratic periods, the focus of water management was on sustainable small scale, safe, and cost effective management practices, and institutional arrangements, whereas in oligarchic periods, emphasis was on the construction of large-scale hydraulic projects, including aqueducts and/or qanats, mostly related to the public sectors. Aqueducts-like qanats are gently sloping, artificially constructed underground galleries, which bring groundwater from the mountainous area to the lowlands, where water is used, sometimes several kilometers away. It is worth noticing that no large-scale lifting techniques were available, and water was transferred from the source (usually a spring by aqueducts (qanats from a higher elevation to a lower level by gravity. Historically, the aqueduct-like qanat technology was developed by Persians in the middle of 1st Millennium BC, and spread towards the Arabian Peninsula and Egypt. The expansion of Islam led to diffusion of qanats in Mediterranean countries (e.g., Spain, Italy, and Cyprus. Much of the population of Iran and other arid countries in North Africa and in Asia depend on water supply by aqueducts-like qanats, even today. This technology is characterized by its durability and sustainability, although an aqueduct-like qanat is expensive, both in construction and maintenance. It is pointed out that, the technique of tunneling was used during the Classical period in ancient Hellas. Since the well known tunnel at the island of Samos, Hellas, was designed and constructed by Eupalinos (ca. 530 BC, several underground tunnels (with and without well

  11. [Aqueductal stenosis in the neurofibromatosis type 1. Presentation of 19 infantile patients].

    Science.gov (United States)

    Pascual-Castroviejo, I; Pascual-Pascual, S I; Velázquez-Fragua, R; Viaño, J; Carceller-Benito, F

    To present a series of infantile patients with aqueductal stenosis associated with neurofibromatosis type 1 (NF1). Nineteen patients with ages below 16 years, 11 girls and 8 boys, with NF1 presented hydrocephalus due to aqueductal stenosis. All patients, except one who died before the imaging study was performed and was diagnosed by autopsy, were studied by pneumoencephalography (since 1965 to 1974), computerized tomography (CT) (since 1975 to 1984), magnetic resonance (MR) or MR and CT (since 1985 to 2004) (two children had been studied by pneumoencephalography some years before) most times to discard optic pathway tumor and, in few patients, because of intracranial hypertension. All patients showed three ventricular hydrocephalus with aqueductal stenosis. Eleven patients showed optic pathway tumor. One patient had a benign aqueductal tumor that impaired the normal flow of cerebrospinal fluid. Neurological features of hydrocephalus occurred very rapidly in some patients and after several years of evolution in others. Two boys showed precocious puberty. All patients were treated with shunt. In our series, aqueductal stenosis occurred in about 5% of children with NF1. Aqueductal stenosis and hydrocephalus were identified at a short age because many patients were studied suspecting optic pathway tumor. Eleven patients (about 60%) associated optic pathway tumor and aqueductal stenosis.

  12. Rhombencephalosynapsis as a cause of aqueductal stenosis: an under-recognized association in hydrocephalic children

    International Nuclear Information System (INIS)

    Whitehead, Matthew T.; Choudhri, Asim F.; Grimm, John; Nelson, Marvin D.

    2014-01-01

    Rhombencephalosynapsis is a rare genetic aberration characterized by variable vermian hypoplasia/aplasia in conjunction with united cerebellar hemispheres. Genetic defects in the isthmic organizer at the mesencephalic-metencephalic junction are presumably responsible for the associated aqueductal stenosis. We performed a retrospective review of 20 children with rhombencephalosynapsis to evaluate for and emphasize the association of aqueductal stenosis and hydrocephalus. We retrospectively reviewed the MR and CT images of 20 children (0-11 years old) with rhombencephalosynapsis encountered at two academic children's hospitals. Rhombencephalosynapsis spectrum severity was graded based on pre-existing literature. We analyzed examinations for ventriculomegaly and degree of aqueductal stenosis. The collicular distances were measured from the collicular apices. Imaging studies were also analyzed for malformations of cortical and cerebellar development. Thirteen of the 20 children (65%) with rhombencephalosynapsis presented with clinical or imaging evidence of hydrocephalus and aqueductal stenosis, principally involving the caudal cerebral aqueduct. All children with aqueductal stenosis had collicular fusion. All six children with complete rhombencephalosynapsis had aqueductal stenosis. The cerebral aqueduct varied from normal to stenotic in children with incomplete rhombencephalosynapsis. Corpus callosum dysgenesis was present in four children. Aqueductal stenosis in the setting of rhombencephalosynapsis is an under-recognized cause of noncommunicating hydrocephalus. Our findings support the hypothesis that a defect involving the common gene(s) responsible for the differentiation and development of both the roof plate and midline cerebellar primordium at the mesencephalon/first rhombomere junction may be responsible for the association of aqueductal stenosis and rhombencephalosynapsis. (orig.)

  13. Rhombencephalosynapsis as a cause of aqueductal stenosis: an under-recognized association in hydrocephalic children

    Energy Technology Data Exchange (ETDEWEB)

    Whitehead, Matthew T. [University of Tennessee Health Science Center, Department of Radiology, Memphis, TN (United States); Le Bonheur Children' s Hospital, Department of Radiology, Memphis, TN (United States); Le Bonheur Children' s Hospital, Le Bonheur Neuroscience Institute, Memphis, TN (United States); Children' s National Medical Center, Washington, DC (United States); Choudhri, Asim F. [University of Tennessee Health Science Center, Department of Radiology, Memphis, TN (United States); Le Bonheur Children' s Hospital, Le Bonheur Neuroscience Institute, Memphis, TN (United States); University of Tennessee Health Science Center, Department of Neurosurgery, Memphis, TN (United States); Grimm, John; Nelson, Marvin D. [Children' s Hospital Los Angeles, Department of Radiology, Los Angeles, CA (United States)

    2014-07-15

    Rhombencephalosynapsis is a rare genetic aberration characterized by variable vermian hypoplasia/aplasia in conjunction with united cerebellar hemispheres. Genetic defects in the isthmic organizer at the mesencephalic-metencephalic junction are presumably responsible for the associated aqueductal stenosis. We performed a retrospective review of 20 children with rhombencephalosynapsis to evaluate for and emphasize the association of aqueductal stenosis and hydrocephalus. We retrospectively reviewed the MR and CT images of 20 children (0-11 years old) with rhombencephalosynapsis encountered at two academic children's hospitals. Rhombencephalosynapsis spectrum severity was graded based on pre-existing literature. We analyzed examinations for ventriculomegaly and degree of aqueductal stenosis. The collicular distances were measured from the collicular apices. Imaging studies were also analyzed for malformations of cortical and cerebellar development. Thirteen of the 20 children (65%) with rhombencephalosynapsis presented with clinical or imaging evidence of hydrocephalus and aqueductal stenosis, principally involving the caudal cerebral aqueduct. All children with aqueductal stenosis had collicular fusion. All six children with complete rhombencephalosynapsis had aqueductal stenosis. The cerebral aqueduct varied from normal to stenotic in children with incomplete rhombencephalosynapsis. Corpus callosum dysgenesis was present in four children. Aqueductal stenosis in the setting of rhombencephalosynapsis is an under-recognized cause of noncommunicating hydrocephalus. Our findings support the hypothesis that a defect involving the common gene(s) responsible for the differentiation and development of both the roof plate and midline cerebellar primordium at the mesencephalon/first rhombomere junction may be responsible for the association of aqueductal stenosis and rhombencephalosynapsis. (orig.)

  14. Diagnostic criteria for enlarged vestibular aqueduct (EVA) on CT of the temporal bones. Borderline cases of EVA

    International Nuclear Information System (INIS)

    Matsumoto, Mariko; Hoshino, Tomoyuki; Kikura, Mikino; Kikawada, Keiko; Kikawada, Toru

    2005-01-01

    The objective of this study was to examine measurements of the vestibular aqueduct on axial CT figures and to examine the cases with borderline EVA. The width of the vestibular aqueduct was measured in two places, the midpoint of the duct and the external aperture in the posterior cranial fossa. Criteria was as follow: Enlargement; ≥1.5 mm at the midpoint, ≥2 mm at the aperture, Borderline; 1-1.4 mm at the midpoint, 1.5-1.9 mm at the aperture. Three hundred forty-five cases with CT scans of the temporal bones taken during July 2003 to June 2004 in the secondary ENT referral center. Those patients include sensorinearal, mixed or conductive deafness, vertigo, ear infections and other ear diseases. Enlarged vestibular aqueduct was found in 10 ears with sensorineural deafness (SD) and 2 ears without SD. Borderline measurements were found in 19 ears with SD and 33 ears without SD. The enlarged midpoint measurement was not seen in the cases without SD. More than 1.5 mm of the definition for the enlargement at the midpoint of the vestibular aqueduct seemed to be appropriate in the clinical situation. The measurement at the midpoint of the duct is more reliable than at the external aperture. The conductive component in EVA Syndrome with mixed hearing loss is present only at the lower frequencies (250, 500 Hz), not at the middle and higer frequencies. Long-term follow-up of hearing should be done in the borderline cases with check-up of PDS gene anomaly if necessary. (author)

  15. Development of Conceptual Designs for the Prevention of Ice Formation in the Proposed Maple River Aqueduct

    Science.gov (United States)

    2014-09-18

    9 2.3.1 The Lune Aqueduct... Lune Aqueduct, 9 January 2010 (Taylor 2010) .............................. 10 5 Pontcysyllte Aqueduct, 3 December 2010...full in winter or are drained. Below we discuss existing aqueducts that op- erate in cold regions, and Table 1 summarizes these. 2.3.1 The Lune

  16. Wind-powered aqueduct systems

    Energy Technology Data Exchange (ETDEWEB)

    Eldridge, F R; Ljungstroem, O [ed.

    1976-01-01

    The MITRE Corporation is proposing to develop a preliminarydesign for a system that would use large-scale wind-driven units to provide power for the pumping of water from the main reservoir to auxiliary reservoirs in other parts of an aqueduct system. The study would include a comparison of the cost and effectiveness of alternative methods of performing such operations.

  17. Hearing loss in enlarged vestibular aqueduct and incomplete partition type II.

    Science.gov (United States)

    Ahadizadeh, Emily; Ascha, Mustafa; Manzoor, Nauman; Gupta, Amit; Semaan, Maroun; Megerian, Cliff; Otteson, Todd

    The purpose of this work is to identify the role of incomplete partition type II on hearing loss among patients with enlarged vestibular aqueduct (EVA). EVA is a common congenital inner ear malformation among children with hearing loss, where vestibular aqueduct morphology in this population has been shown to correlate to hearing loss. However, the impact of incomplete partition between cochlear turns on hearing loss has not been, despite meaningful implications for EVA pathophysiology. A retrospective review of radiology reports for patients who had computed tomography (CT) scans with diagnoses of hearing loss at a tertiary medical center between January 2000 and June 2016 were screened for EVA. CT scans of the internal auditory canal (IAC) for those patients with EVA were examined for evidence of incomplete partition type II (IP-II), measurements of midpoint width and operculum width a second time, and patients meeting Cincinnati criteria for EVA selected for analysis. Statistical analysis including chi-square, Wilcoxon rank-sum, and t-tests were used to identify differences in outcomes and clinical predictors, as appropriate for the distribution of the data. Linear mixed models of hearing test results for all available tests were constructed, both univariable and adjusting for vestibular aqueduct morphometric features, with ear-specific intercepts and slopes over time. There were no statistically significant differences in any hearing test results or vestibular aqueduct midpoint and operculum widths. Linear mixed models, both univariable and those adjusting for midpoint and operculum widths, did not indicate a statistically significant effect of incomplete partition type II on hearing test results. Hearing loss due to enlarged vestibular aqueduct does not appear to be affected by the presence of incomplete partition type II. Our results suggest that the pathophysiological processes underlying hearing loss in enlarged vestibular aqueduct may not be a result of

  18. Aqueduct: a methodology to measure and communicate global water risks

    Science.gov (United States)

    Gassert, Francis; Reig, Paul

    2013-04-01

    The Aqueduct Water Risk Atlas (Aqueduct) is a publicly available, global database and interactive tool that maps indicators of water related risks for decision makers worldwide. Aqueduct makes use of the latest geo-statistical modeling techniques to compute a composite index and translate the most recently available hydrological data into practical information on water related risks for companies, investors, and governments alike. Twelve global indicators are grouped into a Water Risk Framework designed in response to the growing concerns from private sector actors around water scarcity, water quality, climate change, and increasing demand for freshwater. The Aqueduct framework organizes indicators into three categories of risk that bring together multiple dimensions of water related risk into comprehensive aggregated scores and includes indicators of water stress, variability in supply, storage, flood, drought, groundwater, water quality and social conflict, addressing both spatial and temporal variation in water hazards. Indicators are selected based on relevance to water users, availability and robustness of global data sources, and expert consultation, and are collected from existing datasets or derived from a Global Land Data Assimilation System (GLDAS) based integrated water balance model. Indicators are normalized using a threshold approach, and composite scores are computed using a linear aggregation scheme that allows for dynamic weighting to capture users' unique exposure to water hazards. By providing consistent scores across the globe, the Aqueduct Water Risk Atlas enables rapid comparison across diverse aspects of water risk. Companies can use this information to prioritize actions, investors to leverage financial interest to improve water management, and governments to engage with the private sector to seek solutions for more equitable and sustainable water governance. The Aqueduct Water Risk Atlas enables practical applications of scientific data

  19. An unusual cause of hydrocephalus: aqueductal developmental venous anomaly

    Energy Technology Data Exchange (ETDEWEB)

    Yagmurlu, Banu; Fitoz, Suat; Atasoy, Cetin; Erden, ilhan [Ankara University School of Medicine, Department of Radiology, Ankara (Turkey); Deda, Gulhis; Unal, Ozlem [Ankara University School of Medicine, Division of Pediatric Neurology, Ankara (Turkey)

    2005-06-01

    Vascular malformations are infrequent causes of aqueductal stenoses, developmental venous anomaly (DVA) being the rarest among them. DVAs, also known as venous angiomas, are congenital in origin and characterized by dilatation of vessels in the superficial and deep venous system. Although they are usually clinically silent, they can be complicated by hemorrhage, seizures and neurologic deficits. Herein, we report MR imaging findings of a 7-year-old girl whose hydrocephalus was due to an abnormal vein coursing through the aqueduct. (orig.)

  20. Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct.

    Science.gov (United States)

    Huang, Shasha; Han, Dongyi; Yuan, Yongyi; Wang, Guojian; Kang, Dongyang; Zhang, Xin; Yan, Xiaofei; Meng, Xiaoxiao; Dong, Min; Dai, Pu

    2011-09-30

    Mutations in SLC26A4 cause Pendred syndrome (hearing loss with goiter) or DFNB4 (non-syndromic hearing loss with inner ear malformation, such as enlarged vestibular aqueduct or Mondini deformity). The relationship between mutations in SLC26A4 and Mondini deformity without enlarged vestibular aqueduct has not been studied in any Chinese deaf population. The purpose of this study was to assess whether mutations in the SLC26A4 gene cause Mondini deformity without an enlarged vestibular aqueduct (isolated Mondini deformity) in a Chinese population. In total, 144 patients with sensorineural hearing loss were included and subjected to high-resolution temporal bone CT. Among them, 28 patients with isolated Mondini dysplasia (MD group), 50 patients with enlarged vestibular aqueduct with Mondini dysplasia (EVA with MD group), 50 patients with enlarged vestibular aqueduct without Mondini dysplasia (EVA group), and 16 patients with other types of inner ear malformations (IEM group) were identified. The coding exons of SLC26A4 were analyzed in all subjects. DNA sequence analysis of SLC26A4 was performed in all 144 patients. In the different groups, the detection rate of the SLC26A4 mutation differed. In the isolated MD group, only one single allelic mutation in SLC26A4 was found in one patient (1/28, 3.6%). In the EVA with MD group, biallelic and monoallelic SLC26A4 mutations were identified in 46 patients (46/50, 92.0%) and three patients (3/50, 6.0%), respectively. Also, in the EVA group, biallelic and monoallelic SLC26A4 mutations were identified in 46 patients (46/50, 92.0%) and three patients (3/50, 6.0%), respectively. These percentages were identical to those in the EVA plus MD group. Only two patients carried monoallelic mutations of the SLC26A4 gene in the IEM group (2/16, 12.5%). There were significant differences in the frequency of SLC26A4 mutation among the groups (P0.5). Although mutations in the SLC26A4 gene were frequently found in Chinese EVA patients with and

  1. Relationship between pineal cyst size and aqueductal CSF flow measured by phase contrast MRI.

    Science.gov (United States)

    Bezuidenhout, Abraham F; Kasper, Ekkehard M; Baledent, Olivier; Rojas, Rafael; Bhadelia, Rafeeque A

    2018-02-23

    Most patients with pineal cysts referred for neurosurgical consultation have no specific symptoms or objective findings except for pineal cyst size to help in management decisions. Our purpose was to assess the relationship between pineal cyst size and aqueductal CSF flow using PC-MRI. Eleven adult patients with pineal cysts (> 1-cm in size) referred for neurosurgical consultations were included. Cyst volume was calculated using 3D T1 images. PC-MRI in axial plane with velocity encoding of 5 cm/sec was used to quantitatively assess CSF flow through the cerebral aqueduct to determine the aqueductal stroke volume, which was then correlated to cyst size using Pearson's correlation. Pineal cysts were grouped by size into small (6/11) and large (5/11) using the median value to compare aqueductal stroke volume using Mann-Whitney test. Patients were 39 ± 13 years (mean ± SD) of age, and 10/11 (91%) were female. There was significant negative correlation between cyst volume and aqueductal stroke volume (r=0.74; p=0.009). Volume of small cysts (4954±2157 mm3) was significantly different compared to large cysts (13752±3738 mm3; p= 0.008). The aqueductal stroke volume of patients harboring large cysts 33±8 μL/cardiac cycle was significantly lower than that of patients with small cysts 96±29 μL/cardiac cycle (p=0.008). Aqueductal CSF flow appears to decrease with increasing pineal cyst size. Our preliminary results provide first evidence that even in the absence of objective neurological findings or hydrocephalus; larger pineal cysts already display decreased CSF flow through the cerebral aqueduct.

  2. Historical and Technical Notes on Aqueducts from Prehistoric to Medieval Times

    Directory of Open Access Journals (Sweden)

    Giovanni De Feo

    2013-11-01

    Full Text Available The aim of this paper is to present the evolution of aqueduct technologies through the millennia, from prehistoric to medieval times. These hydraulic works were used by several civilizations to collect water from springs and to transport it to settlements, sanctuaries and other targets. Several civilizations, in China and the Americas, developed water transport systems independently, and brought these to high levels of sophistication. For the Mediterranean civilizations, one of the salient characteristics of cultural development, since the Minoan Era (ca. 3200–1100 BC, is the architectural and hydraulic function of aqueducts used for the water supply in palaces and other settlements. The Minoan hydrologists and engineers were aware of some of the basic principles of water sciences and the construction and operation of aqueducts. These technologies were further developed by subsequent civilizations. Advanced aqueducts were constructed by the Hellenes and, especially, by the Romans, who dramatically increased the application scale of these structures, in order to provide the extended quantities of water necessary for the Roman lifestyle of frequent bathing. The ancient practices and techniques were not improved but survived through Byzantine and early medieval times. Later, the Ottomans adapted older techniques, reintroducing large-scale aqueducts to supply their emerging towns with adequate water for religious and social needs. The scientific approach to engineering matters during the Renaissance further improved aqueduct technology. Some of these improvements were apparently also implemented in Ottoman waterworks. Finally the industrial revolution established mechanized techniques in water acquisition. Water is a common need of mankind, and several ancient civilizations developed simple but practical techniques from which we can still learn. Their experience and knowledge could still play an important role for sustainable water supply

  3. Papillary Ependymoma WHO Grade II of the Aqueduct Treated by Endoscopic Tumor Resection

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    Andreas M. Stark

    2009-01-01

    Full Text Available Papillary ependymoma is a rare tumor that may be located along the ventricular walls or within the spinal cord. We report the case of a 54-year-old patient with a papillary ependymoma WHO grade II arising at the entrance of the aqueduct. The tumor caused hydrocephalus. The tumor was completely removed via a right-sided endoscopic approach with restoration of the aqueduct. The free cerebrospinal fluid passage through the aqueduct was not only visualized by endoscopy but also controlled by intraoperative high-field magnetic resonance imaging. Therefore, an additional endoscopic third ventriculostomy was unneccessary.

  4. A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct

    DEFF Research Database (Denmark)

    Chattaraj, Parna; Munjal, Tina; Honda, Keiji

    2017-01-01

    BACKGROUND: Enlargement of the vestibular aqueduct (EVA) is the most common radiological abnormality in children with sensorineural hearing loss. Mutations in coding regions and splice sites of the SLC26A4 gene are often detected in Caucasians with EVA. Approximately one-fourth of patients with E...

  5. Aqueduct: an interactive tool to empower global water risk assessment

    Science.gov (United States)

    Reig, Paul; Gassert, Francis

    2013-04-01

    The Aqueduct Water Risk Atlas (Aqueduct) is a publicly available, global database and interactive tool that maps indicators of water related risks for decision makers worldwide. Aqueduct makes use of the latest geo-statistical modeling techniques to compute a composite index and translate the most recently available hydrological data into practical information on water related risks for companies, investors, and governments alike. Twelve global indicators are grouped into a Water Risk Framework designed in response to the growing concerns from private sector actors around water scarcity, water quality, climate change, and increasing demand for freshwater. The Aqueduct framework includes indicators of water stress, variability in supply, storage, flood, drought, groundwater, water quality and social conflict, addressing both spatial and temporal variation in water hazards. It organizes indicators into three categories of risk that bring together multiple dimensions of water related risk into comprehensive aggregated scores, which allow for dynamic weighting to capture users' unique exposure to water hazards. All information is compiled into an online, open access platform, from which decision-makers can view indicators, scores, and maps, conduct global risk assessments, and export data and shape files for further analysis. Companies can use this tool to evaluate their exposure to water risks across operations and supply chains, investors to assess water-related risks in their portfolio, and public-sector actors to better understand water security. Additionally, the open nature of the data and maps allow other organizations to build off of this effort with new research, for example in the areas of water-energy or water-food relationships. This presentation will showcase the Aqueduct Water Risk Atlas online tool and the features and functionalities it offers, as well as explain how it can be used for both private and public sector applications. The session will

  6. Clinical analysis of aqueductal stenosis in patients with hydrocephalus in a Kenyan setting.

    Science.gov (United States)

    Kaur, Loyal Poonamjeet; Munyiri, Nderitu Joseph; Dismus, Wekesa Vincent

    2017-01-01

    Aqueductal stenosis is the commonest cause of congenital hydrocephalus. The scope of this paper is to highlight the disease burden of hydrocephalus attributed to aqueductal stenosis which still remains unknown in our setting. In a descriptive cross-sectional study, 258 records of patients diagnosed with hydrocephalus were analyzed after ethical approval from Kenyatta National Hospital- University of Nairobi (KNH-UON) ethics and research committee from January 2010 to May 2016. Patients with a diagnosis of hydrocephalus due to aqueductal stenosis were included in this study. Patients age, sex, mode of delivery, associated comorbidities, presenting complaints, neurosurgical intervention performed, Kafarnosky score were recorded. Data were divided into 2 sets based on the patient's age i.e. whether 12 years. Data were recorded on google data collection form and analyzed using Google spreadsheets. Out of 258 cases of hydrocephalus, 52 had aqueductal stenosis. Male to female sex ratio for this condition was 3:2. There were 25 cases 12 years old who were diagnosed with hydrocephalus due to aqueductal stenosis. Associated conditions were bilateral congenital talipes equinovarus, spina bifida, Arnold Chairi malformations, meningitis and HIV. The presenting complaints differed according to the age groups. Neurosurgical interventions included Endoscopic Third Ventriculostomy (ETV) in 21 cases, insertion of Ventriculoperitoneal (VP) shunt and ETV were done in 3 cases while the rest had only insertion of VP shunt. The Kafanosky score improve from hydrocephalus. Clinical presentation differs according to patients age. Accurate diagnosis and treatment remain a cardinal to improving patient outcome.

  7. Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct

    Directory of Open Access Journals (Sweden)

    Yan Xiaofei

    2011-09-01

    Full Text Available Abstract Background Mutations in SLC26A4 cause Pendred syndrome (hearing loss with goiter or DFNB4 (non-syndromic hearing loss with inner ear malformation, such as enlarged vestibular aqueduct or Mondini deformity. The relationship between mutations in SLC26A4 and Mondini deformity without enlarged vestibular aqueduct has not been studied in any Chinese deaf population. The purpose of this study was to assess whether mutations in the SLC26A4 gene cause Mondini deformity without an enlarged vestibular aqueduct (isolated Mondini deformity in a Chinese population. Methods In total, 144 patients with sensorineural hearing loss were included and subjected to high-resolution temporal bone CT. Among them, 28 patients with isolated Mondini dysplasia (MD group, 50 patients with enlarged vestibular aqueduct with Mondini dysplasia (EVA with MD group, 50 patients with enlarged vestibular aqueduct without Mondini dysplasia (EVA group, and 16 patients with other types of inner ear malformations (IEM group were identified. The coding exons of SLC26A4 were analyzed in all subjects. Results DNA sequence analysis of SLC26A4 was performed in all 144 patients. In the different groups, the detection rate of the SLC26A4 mutation differed. In the isolated MD group, only one single allelic mutation in SLC26A4 was found in one patient (1/28, 3.6%. In the EVA with MD group, biallelic and monoallelic SLC26A4 mutations were identified in 46 patients (46/50, 92.0% and three patients (3/50, 6.0%, respectively. Also, in the EVA group, biallelic and monoallelic SLC26A4 mutations were identified in 46 patients (46/50, 92.0% and three patients (3/50, 6.0%, respectively. These percentages were identical to those in the EVA plus MD group. Only two patients carried monoallelic mutations of the SLC26A4 gene in the IEM group (2/16, 12.5%. There were significant differences in the frequency of SLC26A4 mutation among the groups (P SLC26A4 mutation in the isolated MD group was

  8. Monitoring invasive quagga mussels, Dreissena rostriformis bugensis (Bivalvia: Dreissenidae, and other benthic organisms in a western US aqueduct

    Directory of Open Access Journals (Sweden)

    S. Mark Nelson

    2013-01-01

    Full Text Available A quagga mussel (Dreissena rostriformis bugensis Andrusov, 1897 invasion of an aqueduct in Arizona was monitored from 2007 – 2011using colonization substrates. As numbers increased, a filtering-collector caddisfly (Smicridea fasciatella McLachlan, 1871 declinedsignificantly in abundance. After two years of colonization, freshwater sponges were detected and associated with a decline in D. r. bugensisnumbers. Periphyton biomass increased considerably on substrates; perhaps partially, the result of decreased turbidity. Aqueduct biofoulerscould have major impacts on costs associated with aqueduct maintenance. From an operations viewpoint, mussels are undesirable due to flowrestriction associated with increased friction. Augmented sponge and periphyton biomass may also influence aqueduct operations andefficiencies.

  9. SLC26A4 gene copy number variations in Chinese patients with non-syndromic enlarged vestibular aqueduct

    Directory of Open Access Journals (Sweden)

    Zhao Jiandong

    2012-05-01

    Full Text Available Abstract Background Many patients with enlarged vestibular aqueduct (EVA have either only one allelic mutant of the SLC26A4 gene or lack any detectable mutation. In this study, multiplex ligation-dependent probe amplification (MLPA was used to screen for copy number variations (CNVs of SLC26A4 and to reveal the pathogenic mechanisms of non-syndromic EVA (NSEVA. Methods Between January 2003 and March 2010, 923 Chinese patients (481 males, 442 females with NSEVA were recruited. Among these, 68 patients (7.4% were found to carry only one mutant allele of SLC26A4 and 39 patients (4.2% lacked any detectable mutation in SLC26A4; these 107 patients without double mutant alleles were assigned to the patient group. Possible copy number variations in SLC26A4 were detected by SALSA MLPA. Results Using GeneMapper, no significant difference was observed between the groups, as compared with the standard probe provided in the assay. The results of the capillary electrophoresis showed no significant difference between the patients and controls. Conclusion Our results suggest that CNVs and the exon deletion in SLC26A4 are not important factors in NSEVA. However, it would be premature to conclude that CNVs have no role in EVA. Genome-wide studies to explore CNVs within non-coding regions of the SLC26A4 gene and neighboring regions are warranted, to elucidate their roles in NSEVA etiology.

  10. Evolution of Cretan Aqueducts and Their Potential for Hydroelectric Exploitation

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    Triantafyllia G. Nikolaou

    2017-01-01

    Full Text Available In this article, several archaeological, historical and other aspects of aqueducts in Crete, Greece, since the prehistoric times until today, are reviewed and presented. In Crete, since the Minoan era, various water management techniques that are found in modern water technologies were developed and applied. One of the most significant features of the Minoan civilization was the architecture of water supply systems in the palaces and other settlements. These technologies were continued and improved mainly during the Classical, Hellenistic and Roman periods and at the same time spread to other towns in the mainland and islands. The aqueduct technologies developed during the Classical and Hellenistic periods were further developed by Romans, mainly by enlarging their application scale (e.g., water bridges. Several paradigms of Cretan aqueducts are considered by which the significance of those technologies for water supply in areas with limited water resources is justified. A brief presentation and discussion of climatic conditions, the karst hydrogeology and the water resources management in Crete is also included. The article also describes the present water management profile of the island, in terms of the water plants, water supply–irrigation networks, and water renewable energy exploitation of dams and water pipelines.

  11. Contrast enhancement of the cochlear aqueduct in MR imaging: its frequency and clinical significance

    International Nuclear Information System (INIS)

    Nakamura, T.; Naganawa, S.; Fukatsu, H.; Sakurai, Y.; Ishigaki, T.; Aoki, I.; Ninomiya, A.; Nakashima, T.

    2003-01-01

    There have been no previous reports on contrast enhancement of the cochlear aqueduct in magnetic resonance imaging. The purpose of the present study was to evaluate the frequency and significance of this finding. Thirty-one patients (15 men and 16 women; age range 18-81 years) with otologic symptoms (sudden sensorineural hearing loss, vertigo, or tinnitus) were examined using contrast-enhanced imaging on a 1.5-T MR scanner. The normal ear served as the control. Two radiologists evaluated contrast enhancement in the area of the cochlear aqueduct. Forty-eight of 62 ears (77.4%) showed contrast enhancement of the cochlear aqueduct, but no significant differences in the frequency of contrast enhancement were observed between patients with and patients without vertigo, tinnitus, sensorineural hearing loss, cerebellopontine angle tumors, or a high-riding jugular bulb. In addition, no gender- or age-related differences were noted. Contrast enhancement of the cochlear aqueduct was frequently observed, but the frequency of enhancement in symptomatic ears was not significantly higher than in control ears. The results of this study may prove helpful in avoiding unnecessary examinations and potential diagnostic confusion. (orig.)

  12. Contrast enhancement of the cochlear aqueduct in MR imaging: its frequency and clinical significance

    Energy Technology Data Exchange (ETDEWEB)

    Nakamura, T; Naganawa, S; Fukatsu, H; Sakurai, Y; Ishigaki, T [Department of Radiology, Nagoya University School of Medicine, 65 Tsurumai-cho, 466-8550, Shouwa-ku, Nagoya (Japan); Aoki, I; Ninomiya, A [Medical Systems Company, Toshiba Corporation, Nasu Operations, Otawara-shi, Tochigi (Japan); Nakashima, T [Department of Otorhinolaryngology, Nagoya University School of Medicine, Shouwa-ku, Nagoya (Japan)

    2003-09-01

    There have been no previous reports on contrast enhancement of the cochlear aqueduct in magnetic resonance imaging. The purpose of the present study was to evaluate the frequency and significance of this finding. Thirty-one patients (15 men and 16 women; age range 18-81 years) with otologic symptoms (sudden sensorineural hearing loss, vertigo, or tinnitus) were examined using contrast-enhanced imaging on a 1.5-T MR scanner. The normal ear served as the control. Two radiologists evaluated contrast enhancement in the area of the cochlear aqueduct. Forty-eight of 62 ears (77.4%) showed contrast enhancement of the cochlear aqueduct, but no significant differences in the frequency of contrast enhancement were observed between patients with and patients without vertigo, tinnitus, sensorineural hearing loss, cerebellopontine angle tumors, or a high-riding jugular bulb. In addition, no gender- or age-related differences were noted. Contrast enhancement of the cochlear aqueduct was frequently observed, but the frequency of enhancement in symptomatic ears was not significantly higher than in control ears. The results of this study may prove helpful in avoiding unnecessary examinations and potential diagnostic confusion. (orig.)

  13. A case of obstructive hydrocephalus by aqueduct stenosis following gamma knife surgery for arteriovenous malformation around the pineal body

    International Nuclear Information System (INIS)

    Funakoshi, Yusuke; Natori, Yoshihiro; Imamoto, Naoyuki; Inoue, Daisuke; Mori, Megumu; Yamada, Tetsuhisa

    2017-01-01

    Stereotactic radiosurgery, including gamma knife surgery, has been widely performed as minimally invasive treatment for arteriovenous malformation (AVM). While its safety and efficacy have been well reported, some problems also have been reported. Patients who undergo radiosurgery must wait for a few years from the time of treatment and remain exposed to the risk of bleeding until obliteration of the AVM is confirmed, and technical limitations may lead to incomplete administration of the intended treatment. In addition, severe complications are occasionally reported. Here, we present a case of obstructive hydrocephalus caused by aqueductal stenosis in a 63-year-old man who underwent gamma knife surgery for AVM around the pineal body 8 years previously. On visiting our department, he presented with mild disturbance of gait and consciousness. Other physical and neurological examinations were unremarkable. CT demonstrated dilatation of the lateral ventricles and the third ventricle. Because the aqueduct of the midbrain and fourth ventricle were not dilated, obstructive hydrocephalus due to localized aqueductal stenosis was suspected. Endoscopic neurosurgery was performed and stenosis in the aqueduct of the midbrain caused by a membrane-like structure was confirmed. Aqueductal stenosis occurred as a result of inflammation following gamma knife surgery, which extended to the cicatricial tissue and eventually caused a stenosed aqueduct of the midbrain. After the endoscopic third ventriculostomy, the hydrocephalus improved and no recurrence has appeared since. To the best of our knowledge, there have been no previous reports of obstructive hydrocephalus attributable to aqueductal stenosis caused by inflammation following gamma knife surgery. (author)

  14. Phase-contrast cine MR imaging of normal aqueductal CSF flow. Effect of aging and relation to CSF void on modulus MR

    International Nuclear Information System (INIS)

    Barkhof, F.; Kouwenhoven, M.; Scheltens, P.; Sprenger, M.; Algra, P.; Valk, J.

    1994-01-01

    Cine phase-contrast MR imaging was used to study pulsatile CSF flow in the aqueduct in 11 young controls (mean age 30 years) and 9 old controls (mean age 69 years). A high-resolution gradient echo technique and an oblique imaging plane, perpendicular to the aqueduct, was used to avoid volume averaging. Phantom studies confirmed that the technique was accurate. Aqueductal velocity and flux in old controls was higher than in young controls, but the differences were not significant. For all controls together, the averaged peak velocity was 4.2 ± 1.5 cm/s in rostral and -7.8 ± 4.9 cm/s in caudal direction; for the flux it was 0.16 ± 0.10 cm 3 /s in rostral and -0.29 ± 0.19 cm 3 /s in caudal direction. Phase-contrast measurements were significantly related to flow-void on modulus MR images, but not with ventricular size or cortical atrophy. The present technique avoids underestimation of aqueductal flow, and therefore reveals higher aqueductal velocity and flux values than previous studies. Factors other than age or atrophy seem to determine aqueductal CSF flow. (orig.)

  15. The Aqueduct Global Flood Analyzer

    Science.gov (United States)

    Iceland, Charles

    2015-04-01

    As population growth and economic growth take place, and as climate change accelerates, many regions across the globe are finding themselves increasingly vulnerable to flooding. A recent OECD study of the exposure of the world's large port cities to coastal flooding found that 40 million people were exposed to a 1 in 100 year coastal flood event in 2005, and the total value of exposed assets was about US 3,000 billion, or 5% of global GDP. By the 2070s, those numbers were estimated to increase to 150 million people and US 35,000 billion, or roughly 9% of projected global GDP. Impoverished people in developing countries are particularly at risk because they often live in flood-prone areas and lack the resources to respond. WRI and its Dutch partners - Deltares, IVM-VU University Amsterdam, Utrecht University, and PBL Netherlands Environmental Assessment Agency - are in the initial stages of developing a robust set of river flood and coastal storm surge risk measures that show the extent of flooding under a variety of scenarios (both current and future), together with the projected human and economic impacts of these flood scenarios. These flood risk data and information will be accessible via an online, easy-to-use Aqueduct Global Flood Analyzer. We will also investigate the viability, benefits, and costs of a wide array of flood risk reduction measures that could be implemented in a variety of geographic and socio-economic settings. Together, the activities we propose have the potential for saving hundreds of thousands of lives and strengthening the resiliency and security of many millions more, especially those who are most vulnerable. Mr. Iceland will present Version 1.0 of the Aqueduct Global Flood Analyzer and provide a preview of additional elements of the Analyzer to be released in the coming years.

  16. A 7666-bp genomic deletion is frequent in Chinese Han deaf patients with non-syndromic enlarged vestibular aqueduct but without bi-allelic SLC26A4 mutations.

    Science.gov (United States)

    Pang, Xiuhong; Chai, Yongchuan; He, Longxia; Chen, Penghui; Wang, Xiaowen; Li, Lei; Jia, Huan; Wu, Hao; Yang, Tao

    2015-12-01

    To investigate the genetic cause of the patients with non-syndromic enlarged vestibular aqueduct (EVA) but without bi-allelic SLC26A4 mutations. Presence of a homozygous genomic deletion was detected in a Chinese Han deaf patient (D1467-1) who failed to amplify the first three exons of SLC26A4. The breakpoints of the deletion were fine-mapped and revealed by PCR amplification and sequencing. This deletion was subsequently screened in 22 Chinese Han EVA probands with mono-allelic SLC26A4 mutations. The possible founder effect of the newly identified genomic deletion was evaluated by haplotype analysis. A homozygous c.-2071_307+3801del7666 deletion of SLC26A4 was identified in patient D1467-1. This novel genomic deletion was subsequently identified in 18% (4/22) of the Chinese Han EVA probands with mono-allelic SLC26A4 mutations. Haplotype analysis showed that this genomic deletion is likely a founder mutation in Chinese Hans. Our results suggested that the cryptic c.-2071_307+3801del7666 deletion of SLC26A4 is relatively frequent in Chinese Han non-syndromic EVA patients without bi-allelic SLC26A4 mutations. Screening of this genomic deletion should be incorporated into the routine DNA testing of SLC26A4 in Chinese Hans. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  17. Anatomical and MRI relations of the cerebral aqueduct to the adjacent parts of the brain and calvaria

    Directory of Open Access Journals (Sweden)

    Stanković Gordana

    2017-01-01

    Full Text Available Introducton/Objective. Insufficiency of relevant anatomic data and great neurological and neurosurgical significance were the reasons for this study with scientific and practical implications. The purpose was to determine, at the transverse in situ section of the head, the position and relations of the sylvian aqueduct of the mesencephalon by measuring its distances from particular brain and calvaria structures. Also, the aim was to determine the same distances according to axial sections by using MRI. Methods. The material consisted of twenty autopsy human heads. The section of the head was made at the level of the tentorial hiatus and the midbrain. After that, we measured the distances between the cerebral aqueduct and a posterior border of the optic chiasm, b upper border of the dorsum sellae, c terminal bifurcation of the basilar artery, d beginning of the straight sinus, e internal occipital protuberance, f tentorial edge (lateral from the aqueduct, and g internal surface of the calvaria (lateral to the aqueduct. We determined the same distances by the MRI system. The measurements were made in 37 subjects. Results. The numerical data obtained by this study will be of benefit to neurosurgeons in choosing a surgical approach to the contents of the incisural space, and to neurologists for the exact localization of the lesion and interpretation of certain signs and symptoms. Conclusion. The results of a detailed examination of the sylvian aqueduct position and relations have shown that the use of MRI is the morphometric method of choice, because it is more precise for all the parameters monitored than in situ measurements. [Project of the Serbian Ministry of Education, Science and Technological Development, Grant no. 175030

  18. Quantitative analysis of the aqueductal CSF flow dynamics with FLASH sequence

    International Nuclear Information System (INIS)

    Seki, Kouji; Tsuji, Shoji; Yuasa, Tatsuhiko; Miyatake, Tadashi.

    1993-01-01

    Aqueductal cerebrospinal fluid (CSF) flow image and its dynamics were analyzed with 1.5 T MR system using ECG-gated Fast Low Flip Angle Shot (FLASH). High flip angle (90 degree) and short echo time (10 ms) were applicated. Seventeen ECG gated nine images were obtained in one cardiac cycle from the inferior midbrain. Axial imaging plane (across at 60 degree to the aqueduct) and 6 mm of slice thickness is available. The CSF flow velocity was estimated by a standard curve of signal intensity ratio, obtained by the running water in model tubes. Examinations of five normal subjects (male/female=2/3, 48.4±15 years old) were performed. The aqueductal flow signal had two peaks in one cardiac cycle. The latter oval signals within the diastolic phase represent the caudal (downward) CSF flow, and the former wedge shaped signals represent the cephalad (reverse) flow. The peak velocity of the caudal CSF flow is about 6.5 mm/s, the cephalad flow is about 4.5 mm/s. We defined two zero points of the to-and-fro curve as turning points, the first (caudal to cephalad) zero point as the 'first turning point', the second (cephalad to caudal) zero point as the 'second turning point'. In normal subjects, the first turning points are at 236±28 ms (±SD), the second turning points are at 723±67 ms (±SD) after ECG R wave. This new method is highly useful for the analyzing disorders with CSF flow abnormalities. (author)

  19. There were giants in the Earth in those days: the ancient catchment and aqueduct of 'Triglio' near Taranto (Italy)

    Science.gov (United States)

    Spilotro, Giuseppe; Fidelibus, Maria Dolores; Canora, Filomena; Pellicani, Roberta

    2014-05-01

    In the area between the towns of Crispiano, Statte and Taranto, partly along the Gravina (canyon) of the Triglio, a huge aqueduct, which presently reaches Taranto, develops. The water intake apparatus, which is constituted by small underground tunnels some kilometers long and with regularly spaced pits for the digging and for the aeration of the conduct, is very notable. As a matter of fact, the water intake works deep inside very permeable calcareous rocks testify the capability of withdrawal water even from an unfriendly environment like a karst vadose zone in a semi-arid region. The first part of the work is attributed at Roman age and more precisely in the interval between the 1st century BC and AC. In 950 A.D., after the fall of the Roman Empire, Nicephorus II Phocas, Emperor of the East, rebuilds Taranto after the wars and restructures the Triglio Aqueduct that remains outside the city walls. In 1334, Catherine II of Valois, Princess of Taranto, completes the aqueduct bringing it into the city. In the nineteenth century, the aqueduct becomes the "Public Source" and the Apulian Aqueduct Authority uses the structure to provide water until 1922, when the city began to be served by the Sele. The aqueduct presently extends for about 12 km and can be divided into three parts: (1) water intake apparatus, hypogeum stretch for water interception, formed by branches of tunnels converging in a single pipe; (2) hypogeum conductor apparatus, which is a unique underground pipeline entirely excavated in the rock; (3) epigeum conductor apparatus, the final stretch of the aqueduct where it emerges from the ground level. The trend of the tunnels of the water intake apparatus has been reconstructed through studies carried out by Speleo Group Statte and other researchers. The water intake apparatus is composed by tunnels and pits excavated into a calcareous mass, draining the karst vadose zone and the alluvial deposits, where the tunnel is parallel to the water course of the

  20. A particular case of deafness-oligodontia syndrome.

    Science.gov (United States)

    Marlin, S; Denoyelle, F; Busquet, D; Garabedian, N; Petit, C

    1998-06-01

    Two previous case reports described two sibs affected with both sensorineural hearing loss and oligodontia. Here, we report a similar syndrome in a male patient with an, as yet, undescribed vestibular aqueduct enlargement on tomodensitometry. The analysis of the parent's audiograms is consistent with the suggested autosomal recessive mode of inheritance of this disorder.

  1. Functional Testing of SLC26A4 Variants—Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria

    Science.gov (United States)

    Bernardinelli, Emanuele; Nofziger, Charity; Patsch, Wolfgang; Rasp, Gerd; Paulmichl, Markus; Dossena, Silvia

    2018-01-01

    The prevalence and spectrum of sequence alterations in the SLC26A4 gene, which codes for the anion exchanger pendrin, are population-specific and account for at least 50% of cases of non-syndromic hearing loss associated with an enlarged vestibular aqueduct. A cohort of nineteen patients from Austria with hearing loss and a radiological alteration of the vestibular aqueduct underwent Sanger sequencing of SLC26A4 and GJB2, coding for connexin 26. The pathogenicity of sequence alterations detected was assessed by determining ion transport and molecular features of the corresponding SLC26A4 protein variants. In this group, four uncharacterized sequence alterations within the SLC26A4 coding region were found. Three of these lead to protein variants with abnormal functional and molecular features, while one should be considered with no pathogenic potential. Pathogenic SLC26A4 sequence alterations were only found in 12% of patients. SLC26A4 sequence alterations commonly found in other Caucasian populations were not detected. This survey represents the first study on the prevalence and spectrum of SLC26A4 sequence alterations in an Austrian cohort and further suggests that genetic testing should always be integrated with functional characterization and determination of the molecular features of protein variants in order to unequivocally identify or exclude a causal link between genotype and phenotype. PMID:29320412

  2. Uncovering a New Cause of Obstructive Hydrocephalus Following Subarachnoid Hemorrhage: Choroidal Artery Vasospasm-Related Ependymal Cell Degeneration and Aqueductal Stenosis-First Experimental Study.

    Science.gov (United States)

    Yolas, Coskun; Ozdemir, Nuriye Guzin; Kanat, Ayhan; Aydin, Mehmet Dumlu; Keles, Papatya; Kepoglu, Umit; Aydin, Nazan; Gundogdu, Cemal

    2016-06-01

    Hydrocephalus is a serious complication of subarachnoid hemorrhage (SAH). Obstruction of the cerebral aqueduct may cause hydrocephalus after SAH. Although various etiologic theories have been put forward, choroidal artery vasospasm-related ependymal desquamation and subependymal basal membrane rupture as mechanisms of aqueductal stenosis have not been suggested in the literature. This study was conducted on 26 hybrid rabbits. Five rabbits were placed in a control group, 5 were placed in a sham group, and the remaining rabbits (n = 16) were placed in the SAH group. In the first 2 weeks, 5 animals in the SAH group died. The other 21 animals were decapitated after the 4-week follow-up period. Choroidal artery changes resulting from vasospasm, aqueduct volume, ependymal cell density, and Evans index values of brain ventricles were obtained and compared statistically. Mean aqueduct volume was 1.137 mm(3) ± 0.096, normal ependymal cell density was 4560/mm(2) ± 745, and Evans index was 0.32 ± 0.05 in control animals (n = 5); these values were 1.247 mm(3) ± 0.112, 3568/mm(2) ± 612, and 0.34 ± 0.15 in sham animals (n = 5); 1.676 mm(3) ± 0.123, 2923/mm(2) ± 591, and 0.43 ± 0.09 in animals without aqueductal stenosis (n = 5); and 0.650 mm(3) ± 0.011, 1234/mm(2) ± 498, and 0.60 ± 0.18 in animals with severe aqueductal stenosis (n = 6). The choroidal vasospasm index values were 1.160 ± 0.040 in the control group, 1.150 ± 0.175 in the sham group, 1.760 ± 0.125 in the nonstenotic group, and 2.262 ± 0.160 in the stenotic group. Aqueduct volumes, ependymal cell densities, Evans index, and choroidal artery vasospasm index values were statistically significantly different between groups (P < 0.05). Ependymal cell desquamation and subependymal basal membrane destruction related to choroidal artery vasospasm may lead to aqueductal stenosis and hydrocephalus after SAH. Copyright © 2016 Elsevier Inc. All rights reserved.

  3. Challenges and Proposals for Socio-Ecological Sustainability of the Tagus–Segura Aqueduct (Spain under Climate Change

    Directory of Open Access Journals (Sweden)

    Álvaro-Francisco Morote

    2017-11-01

    Full Text Available Since its inauguration in 1979, the Tagus–Segura Aqueduct has become one of the hydraulic infrastructures that has had the most significant socio-economic repercussions in Spain during the past few decades. The aqueduct is significant for its strategic importance and developmental potential for south-east Spain, where it provides water for agriculture as well as for tourism and urban consumption. The aim of this study is to analyze the uncertainties regarding the future functioning of this infrastructure in view of the reduction of water resources and a higher frequency of drought episodes due to climate change. To this end, an analysis was performed on previous studies of hydrological plans, regulations and studies on climate change in order to enable an assessment to be made of the possible effects of these changes on the normal functions of the Tagus–Segura Aqueduct. Consideration is also given to the new management rules that have regulated this infrastructure since 2014, the use of alternative water resources, and proposals such as measures to increase resilience in light of future climate change scenarios and their effects on the Mediterranean.

  4. The pathophysiology of the aqueduct stroke volume in normal pressure hydrocephalus: can co-morbidity with other forms of dementia be excluded?

    International Nuclear Information System (INIS)

    Bateman, Grant A.; Levi, Christopher R.; Wang, Yang; Lovett, Elizabeth C.; Schofield, Peter

    2005-01-01

    Variable results are obtained from the treatment of normal pressure hydrocephalus (NPH) by shunt insertion. There is a high correlation between NPH and the pathology of Alzheimer's disease (AD) on brain biopsy. There is an overlap between AD and vascular dementia (VaD), suggesting that a correlation exists between NPH and other forms of dementia. This study seeks to (1) understand the physiological factors behind, and (2) define the ability of, the aqueduct stroke volume to exclude dementia co-morbidity. Twenty-four patients from a dementia clinic were classified as having either early AD or VaD on the basis of clinical features, Hachinski score and neuropsychological testing. They were compared with 16 subjects with classical clinical findings of NPH and 12 aged-matched non-cognitively impaired subjects. MRI flow quantification was used to measure aqueduct stroke volume and arterial pulse volume. An arterio-cerebral compliance ratio was calculated from the two volumes in each patient. The aqueduct stroke volume was elevated in all three forms of dementia, with no significant difference noted between the groups. The arterial pulse volume was elevated by 24% in VaD and reduced by 35% in NPH, compared to normal (P=0.05 and P=0.002, respectively), and was normal in AD. There was a spectrum of relative compliance with normal compliance in VaD and reduced compliance in AD and NPH. The aqueduct stroke volume depends on the arterial pulse volume and the relative compliance between the arterial tree and brain. The aqueduct stroke volume cannot exclude significant co-morbidity in NPH. (orig.)

  5. The pathophysiology of the aqueduct stroke volume in normal pressure hydrocephalus: can co-morbidity with other forms of dementia be excluded?

    Energy Technology Data Exchange (ETDEWEB)

    Bateman, Grant A. [John Hunter Hospital, Department of Medical Imaging, Newcastle (Australia); Levi, Christopher R.; Wang, Yang; Lovett, Elizabeth C. [Hunter Medical Research Institute, Clinical Neurosciences Program, Newcastle (Australia); Schofield, Peter [James Fletcher Hospital, Neuropsychiatry Unit, Newcastle (Australia)

    2005-10-01

    Variable results are obtained from the treatment of normal pressure hydrocephalus (NPH) by shunt insertion. There is a high correlation between NPH and the pathology of Alzheimer's disease (AD) on brain biopsy. There is an overlap between AD and vascular dementia (VaD), suggesting that a correlation exists between NPH and other forms of dementia. This study seeks to (1) understand the physiological factors behind, and (2) define the ability of, the aqueduct stroke volume to exclude dementia co-morbidity. Twenty-four patients from a dementia clinic were classified as having either early AD or VaD on the basis of clinical features, Hachinski score and neuropsychological testing. They were compared with 16 subjects with classical clinical findings of NPH and 12 aged-matched non-cognitively impaired subjects. MRI flow quantification was used to measure aqueduct stroke volume and arterial pulse volume. An arterio-cerebral compliance ratio was calculated from the two volumes in each patient. The aqueduct stroke volume was elevated in all three forms of dementia, with no significant difference noted between the groups. The arterial pulse volume was elevated by 24% in VaD and reduced by 35% in NPH, compared to normal (P=0.05 and P=0.002, respectively), and was normal in AD. There was a spectrum of relative compliance with normal compliance in VaD and reduced compliance in AD and NPH. The aqueduct stroke volume depends on the arterial pulse volume and the relative compliance between the arterial tree and brain. The aqueduct stroke volume cannot exclude significant co-morbidity in NPH. (orig.)

  6. Evaluation of aqueductal patency in patients with hydrocephalus: Three-dimensional high-sampling efficiency technique(SPACE) versus two-dimensional turbo spin echo at 3 Tesla

    International Nuclear Information System (INIS)

    Ucar, Murat; Guryildirim, Melike; Tokgoz, Nil; Kilic, Koray; Borcek, Alp; Oner, Yusuf; Akkan, Koray; Tali, Turgut

    2014-01-01

    To compare the accuracy of diagnosing aqueductal patency and image quality between high spatial resolution three-dimensional (3D) high-sampling-efficiency technique (sampling perfection with application optimized contrast using different flip angle evolutions [SPACE]) and T2-weighted (T2W) two-dimensional (2D) turbo spin echo (TSE) at 3-T in patients with hydrocephalus. This retrospective study included 99 patients diagnosed with hydrocephalus. T2W 3D-SPACE was added to the routine sequences which consisted of T2W 2D-TSE, 3D-constructive interference steady state (CISS), and cine phase-contrast MRI (PC-MRI). Two radiologists evaluated independently the patency of cerebral aqueduct and image quality on the T2W 2D-TSE and T2W 3D-SPACE. PC-MRI and 3D-CISS were used as the reference for aqueductal patency and image quality, respectively. Inter-observer agreement was calculated using kappa statistics. The evaluation of the aqueductal patency by T2W 3D-SPACE and T2W 2D-TSE were in agreement with PC-MRI in 100% (99/99; sensitivity, 100% [83/83]; specificity, 100% [16/16]) and 83.8% (83/99; sensitivity, 100% [67/83]; specificity, 100% [16/16]), respectively (p < 0.001). No significant difference in image quality between T2W 2D-TSE and T2W 3D-SPACE (p = 0.056) occurred. The kappa values for inter-observer agreement were 0.714 for T2W 2D-TSE and 0.899 for T2W 3D-SPACE. Three-dimensional-SPACE is superior to 2D-TSE for the evaluation of aqueductal patency in hydrocephalus. T2W 3D-SPACE may hold promise as a highly accurate alternative treatment to PC-MRI for the physiological and morphological evaluation of aqueductal patency.

  7. Evaluation of aqueductal patency in patients with hydrocephalus: Three-dimensional high-sampling efficiency technique(SPACE) versus two-dimensional turbo spin echo at 3 Tesla

    Energy Technology Data Exchange (ETDEWEB)

    Ucar, Murat; Guryildirim, Melike; Tokgoz, Nil; Kilic, Koray; Borcek, Alp; Oner, Yusuf; Akkan, Koray; Tali, Turgut [School of Medicine, Gazi University, Ankara (Turkey)

    2014-12-15

    To compare the accuracy of diagnosing aqueductal patency and image quality between high spatial resolution three-dimensional (3D) high-sampling-efficiency technique (sampling perfection with application optimized contrast using different flip angle evolutions [SPACE]) and T2-weighted (T2W) two-dimensional (2D) turbo spin echo (TSE) at 3-T in patients with hydrocephalus. This retrospective study included 99 patients diagnosed with hydrocephalus. T2W 3D-SPACE was added to the routine sequences which consisted of T2W 2D-TSE, 3D-constructive interference steady state (CISS), and cine phase-contrast MRI (PC-MRI). Two radiologists evaluated independently the patency of cerebral aqueduct and image quality on the T2W 2D-TSE and T2W 3D-SPACE. PC-MRI and 3D-CISS were used as the reference for aqueductal patency and image quality, respectively. Inter-observer agreement was calculated using kappa statistics. The evaluation of the aqueductal patency by T2W 3D-SPACE and T2W 2D-TSE were in agreement with PC-MRI in 100% (99/99; sensitivity, 100% [83/83]; specificity, 100% [16/16]) and 83.8% (83/99; sensitivity, 100% [67/83]; specificity, 100% [16/16]), respectively (p < 0.001). No significant difference in image quality between T2W 2D-TSE and T2W 3D-SPACE (p = 0.056) occurred. The kappa values for inter-observer agreement were 0.714 for T2W 2D-TSE and 0.899 for T2W 3D-SPACE. Three-dimensional-SPACE is superior to 2D-TSE for the evaluation of aqueductal patency in hydrocephalus. T2W 3D-SPACE may hold promise as a highly accurate alternative treatment to PC-MRI for the physiological and morphological evaluation of aqueductal patency.

  8. Mathematical Modelling of CSF Pulsatile Flow in Aqueduct Cerebri.

    Science.gov (United States)

    Czosnyka, Zofia; Kim, Dong-Joo; Balédent, Olivier; Schmidt, Eric A; Smielewski, Peter; Czosnyka, Marek

    2018-01-01

    The phase-contrast MRI technique permits the non-invasive assessment of CSF movements in cerebrospinal fluid cavities of the central nervous system. Of particular interest is pulsatile cerebrospinal fluid (CSF) flow through the aqueduct cerebri. It is allegedly increased in hydrocephalus, having potential diagnostic value, although not all scientific reports contain unequivocally positive conclusions. For the mathematical simulation of CSF flow, we used a computational model of cerebrospinal blood/fluid circulation designed by a former student as his PhD project. With this model, cerebral blood flow and CSF may be simulated in various vessels using a system of non-linear differential equations as time-varying signals. The amplitude of CSF flow seems to be positively related to the amplitude of pulse waveforms of intracranial pressure (ICP) in situations where mean ICP increases, such as during simulated infusion tests and following step increases of resistance to CSF outflow. An additional positive association between the pulse amplitude of ICP and CSF flow can be seen during simulated increases in the amplitude of arterial pulses (without changes in mean arterial pressure, MAP). The opposite effect can be observed during step increases in the resistance of the aqueduct cerebri and with decreasing elasticity of the system, where the CSF flow amplitude and the ICP pulse amplitude are related inversely. Vasodilatation caused by both gradual decreases in MAP and by increases in PaCO2 provokes an elevation in the observed amplitude of pulsatile CSF flow. Preliminary results indicate that the pulsations of CSF flow may carry information about both CSF-circulatory and cerebral vasogenic components. In most cases, the pulsations of CSF flow are positively related to the pulse amplitudes of both arterial pressure and ICP and to a degree of cerebrovascular dilatation.

  9. Observation of the CSF pulsatile flow in the aqueduct using cine MRI with presaturation bolus tracking, 3

    International Nuclear Information System (INIS)

    Nakajima, Satoshi

    1992-01-01

    The to-and-fro motion patterns of the CSF flow in the aqueduct in ten normal adults, ten patients with secondary normal-pressure hydrocephalus (NPH), and fourteen patients with idiopathic ventriculomegaly were analyzed using cine MRI with presaturation bolus tracking. The to-and-fro motion patterns of the CSF flow in the aqueduct were thus classified into four types according to their maximum velocity and the relative time duration of their flow in the rostral and caudal directions. The correlation between the clinical symptoms, the CT findings, the RI-cisternography findings, the results of the ICP monitorings, and the CSF pulsatile-flow patterns were then analyzed. In secondary NPH disclosing frequent B waves on ICP monitoring, the maximum velocity of the CSF flow in the aqueduct was over 15 mm/sec, and the duration of the CSF flow was longer in the caudal direction than in the rostral direction. Furthermore, the faster the maximum velocity of the CSF flow, the larger the ventricular size on CT and the more severe the CSF malabsorption on cisternography. In idiopathic ventriculomegaly, only two cases demonstrated the same CSF flow pattern as was shown in secondary NPH; the other cases demonstrated other CSF flow patterns, which were considered to indicate hydrocephalus ex vacuo or arrested hydrocephalus. The CSF pulsatile-flow pattern was assumed to change according to the degree of the CSF circulatory disorder, its compensatory process, and the plasticity of the brain. The investigation of the CSF pulsatile flow gives important information for the evaluation of various hydrocephalic conditions. (author)

  10. Serial MR imaging studies in enlarged endolymphatic duct and sac syndrome

    International Nuclear Information System (INIS)

    Naganawa, Shinji; Koshikawa, Tokiko; Fukatsu, Hiroshi; Ishigaki, Takeo; Nakashima, Tsutomu

    2002-01-01

    Large vestibular aqueduct syndrome (LVAS) is a congenital disorder characterized by progressive or fluctuating sensorineural hearing loss of unknown etiology. Serial MR examinations were performed before and after the development of hearing loss in two patients with LVAS. The signal and volume of the enlarged endolymphatic sac (EES) vary even in ears with stable hearing. In ears with fluctuating hearing, changes in EES signals were observed in only one of two patients. The finding that the EES volume and signal intensity vary dynamically independently of hearing is important for future research into the pathophysiology of hearing loss in this syndrome. (orig.)

  11. Radiologic investigation of apert syndrome (acrocephalosyndactyly type 1) -a case report-

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Yeon Hee; Cho, Whi Youl; Kim, Myung Soon; Hong, In Soo; Sung, Ki Joon; Yang, Jae Seung [Wonju College of Medicine, Yonsei University, Wonju (Korea, Republic of)

    1991-03-15

    Apert syndrome (Acrocephalosyndactyly type 1) is a rare congenital anomaly characterized by craniosynosis and symmetric-syndactyly of both extremities. Radiological examination of the skull shows hydrocephalus due to aqueductal stenosis. In the facial bones, the hypoplastic maxilla and relatively prominent mandible are observed associated with other anomalies such as cleft palate. Radiologic examination of both hands and feet show bony or subcutaneous syndactylism and typical mitten hands and webbed toes.

  12. Radiologic investigation of apert syndrome (acrocephalosyndactyly type 1) -a case report-

    International Nuclear Information System (INIS)

    Lee, Yeon Hee; Cho, Whi Youl; Kim, Myung Soon; Hong, In Soo; Sung, Ki Joon; Yang, Jae Seung

    1991-01-01

    Apert syndrome (Acrocephalosyndactyly type 1) is a rare congenital anomaly characterized by craniosynosis and symmetric-syndactyly of both extremities. Radiological examination of the skull shows hydrocephalus due to aqueductal stenosis. In the facial bones, the hypoplastic maxilla and relatively prominent mandible are observed associated with other anomalies such as cleft palate. Radiologic examination of both hands and feet show bony or subcutaneous syndactylism and typical mitten hands and webbed toes

  13. Cochlear aqueduct flow resistance is not constant during evoked inner ear pressure change in the guinea pig

    NARCIS (Netherlands)

    Wit, HP; Feijen, RA; Albers, FWJ

    Inner ear fluid pressure was measured during 6.25 mHz square wave middle ear pressure manipulation, with a perforated tympanic membrane. After a negative-going middle ear pressure change the calculated flow resistance of the inner ear pressure release routes (mainly the cochlear aqueduct) was

  14. Common clinical features of children with enlarged vestibular aqueduct and Mondini dysplasia.

    Science.gov (United States)

    Wu, Chen-Chi; Chen, Yuh-Shyang; Chen, Pei-Jer; Hsu, Chuan-Jen

    2005-01-01

    The purpose of the study was to investigate the etiological factors and the audiological data of different types of inner ear malformations, which the authors thought might be helpful in elucidating the inter-relation among malformations and shedding light on pathogenesis. Retrospective study from 1998 to 2002 at a tertiary care university hospital. One hundred sixty consecutive children with a total of 302 affected ears undergoing high-resolution computed tomography of the temporal bone for sensorineural hearing loss were enrolled. The image results were correlated with causes and origins, hearing loss patterns, hearing levels, and audiogram configurations. Inner ear malformation was present in 114 (38%) ears. The most common malformations were enlarged vestibular aqueduct, incomplete partition of cochlea (Mondini dysplasia), large vestibule, and semicircular canal dysplasia, presenting either as isolated finding or in combination. Eighty-four (74%) ears had abnormalities confined to these four malformations; only 30 (26%) ears showed other malformations. Patients with complex of enlarged vestibular aqueduct, Mondini dysplasia, large vestibule, and semicircular canal dysplasia (EMVS complex) demonstrated a significantly higher incidence of fluctuating hearing loss (93%) and a better hearing level compared with those with other malformations. Homogeneity in audiological features among these four malformations was also disclosed. The authors identified a distinct clinical entity, the EMVS complex, which is characterized by fluctuating hearing loss and a better hearing level. The authors proposed that malformations belonging to this complex result from a common pathogenetic mechanism.

  15. Utility of two types of MR cisternography for patency evaluation of aqueduct and third ventriculostomy site: Three dimentsional sagittal fast spin echo sequence and steady-state coherent fast gradient echo sequence

    Energy Technology Data Exchange (ETDEWEB)

    Park, Jung Hyun; Kim, Eun Hee; Park, Jong Bin; Kim, Jae Hyoung; Choi, Byung Se; Jung, Cheol Kyu; Bae, Yun Jung; Lee, Kyung Mi [Dept. of Radiology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam (Korea, Republic of)

    2015-07-15

    We aimed to evaluate the utility of two types of MR cisternography [fast spin echo sequence and steady-state coherent gradient echo (GRE) sequence] in addition to phase contrast-cine imaging (PC-cine), for assessing patency at the aqueduct and third ventriculostomy site. 43 patients (35 patients with suspected aqueductal stenosis and 8 patients with third ventriculostomy) were retrospectively analyzed. PC-cine, 3 dimensional sagittal fast spin echo sequence [driven-equilibrium imaging (DRIVE) or volumetric isotrophic T2-weighted acquisition (T2 VISTA)] and steady-state coherent fast GRE sequence (balanced turbo field echo; bTFE) imaging were performed in all patients. The patency of the aqueduct or third ventriculostomy site was scored. Some pitfalls of each sequence were also analyzed in individual cases. 93% of all cases showed consistent scores in PC-cine, DRIVE/T2 VISTA, and bTFE imaging. DRIVE/T2 VISTA imaging provided functional information of cerebrospinal fluid flow with flow-related artifacts, while bTFE imaging allowed direct visualization of the aqueduct or ventriculostomy site. However, evaluation of anatomical structures was difficult in three cases with strong flow-related artifacts on DRIVE/T2 VISTA and in 2 cases with susceptibility artifacts on bTFE. Both DRIVE/T2 VISTA and bTFE imaging have complementary roles in evaluating the patency of the aqueduct and 3rd ventriculostomy site.

  16. Utility of two types of MR cisternography for patency evaluation of aqueduct and third ventriculostomy site: Three dimentsional sagittal fast spin echo sequence and steady-state coherent fast gradient echo sequence

    International Nuclear Information System (INIS)

    Park, Jung Hyun; Kim, Eun Hee; Park, Jong Bin; Kim, Jae Hyoung; Choi, Byung Se; Jung, Cheol Kyu; Bae, Yun Jung; Lee, Kyung Mi

    2015-01-01

    We aimed to evaluate the utility of two types of MR cisternography [fast spin echo sequence and steady-state coherent gradient echo (GRE) sequence] in addition to phase contrast-cine imaging (PC-cine), for assessing patency at the aqueduct and third ventriculostomy site. 43 patients (35 patients with suspected aqueductal stenosis and 8 patients with third ventriculostomy) were retrospectively analyzed. PC-cine, 3 dimensional sagittal fast spin echo sequence [driven-equilibrium imaging (DRIVE) or volumetric isotrophic T2-weighted acquisition (T2 VISTA)] and steady-state coherent fast GRE sequence (balanced turbo field echo; bTFE) imaging were performed in all patients. The patency of the aqueduct or third ventriculostomy site was scored. Some pitfalls of each sequence were also analyzed in individual cases. 93% of all cases showed consistent scores in PC-cine, DRIVE/T2 VISTA, and bTFE imaging. DRIVE/T2 VISTA imaging provided functional information of cerebrospinal fluid flow with flow-related artifacts, while bTFE imaging allowed direct visualization of the aqueduct or ventriculostomy site. However, evaluation of anatomical structures was difficult in three cases with strong flow-related artifacts on DRIVE/T2 VISTA and in 2 cases with susceptibility artifacts on bTFE. Both DRIVE/T2 VISTA and bTFE imaging have complementary roles in evaluating the patency of the aqueduct and 3rd ventriculostomy site

  17. Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome.

    Science.gov (United States)

    Ganaha, Akira; Kaname, Tadashi; Yanagi, Kumiko; Naritomi, Kenji; Tono, Tetsuya; Usami, Shin-ichi; Suzuki, Mikio

    2013-05-24

    Pendred syndrome (PS) and nonsyndromic hearing loss associated with enlarged vestibular aqueduct (EVA) are caused by SLC26A4 mutations. The Okinawa Islands are the southwestern-most islands of the Japanese archipelago. And ancestral differences have been reported between people from Okinawa Island and those from the main islands of Japan. To confirm the ethnic variation of the spectrum of SLC26A4 mutations, we investigated the frequencies of SLC26A4 mutations and clinical manifestations of patients with EVA or PS living in the Okinawa Islands. We examined 22 patients with EVA or PS from 21 unrelated families in Okinawa Islands. The patient's clinical history, findings of physical and otoscopic examinations, hearing test, and computed tomography (CT) scan of the temporal bones were recorded. To detect mutations, all 21 exons and the exon-intron junctions of SLC26A4 were sequenced for all subjects. Quantitative reverse-transcription polymerase chain reaction (qRT-PCR) for SLC26A4 and calculations using the comparative CT (2(-ΔΔCT)) method were used to determine the pathogenicity associated with gene substitutions. SLC26A4 mutations were identified in 21 of the 22 patients. We found a compound heterozygous mutation for IVS15 + 5G > A/H723R in nine patients (41%), a homozygous substitution of IVS15 + 5G > A in six patients (27%), and homozygous mutation for H723R in five patients (23%). The most prevalent types of SLC26A4 alleles were IVS15 + 5G > A and H723R, which both accounted for 15/22 (68%) of the patients. There were no significant correlations between the types of SLC26A4 mutation and clinical manifestations. Based on qRT-PCR results, expression of SLC26A4 was not identified in patients with the homozygous substitution of IVS15 + 5G > A. The substitution of IVS15 + 5G > A in SLC26A4 was the most common mutation in uniquely found in patients with PS and EVA in Okinawa Islands. This suggested that the spectrum of SLC26A4 mutation differed

  18. Trans aqueductal, third ventricle - Cervical subarachnoid stenting: An adjuvant cerebro spinal fluid diversion procedure in midline posterior fossa tumors with hydrocephalus: The technical note and case series.

    Science.gov (United States)

    Teegala, Ramesh

    2016-01-01

    Persistent or progressive hydrocephalus is one of the complex problems of posterior fossa tumors associated with hydrocephalus. The author evaluated the effectiveness of single-stage tumor decompression associated with a stent technique (trans aqueductal third ventricle - Cervical subarachnoid stenting) as an adjuvant cerebro spinal fluid (CSF) diversion procedure in controlling the midline posterior fossa tumors with hydrocephalus. Prospective clinical case series of 15 patients was evaluated from July 2006 to April 2012. Fifteen clinicoradiological diagnosed cases of midline posterior fossa tumors with hydrocephalus were included in this study. All the tumors were approached through the cerebello medullary (telo velo tonsilar) fissure technique. Following the excision of the posterior fossa tumor, a sizable stent was placed across the aqueduct from the third ventricle to the cervical subarachnoid space. There were nine male and six female patients with an average age of 23 years. Complete tumor excision could be achieved in 12 patients and subtotal excision with clearance of aqueduct in remaining three patients. Hydrocephalus was controlled effectively in all the patients. There were no stent-related complications. This study showed the reliability of single-stage tumor excision followed by placement of aqueductal stent. The success rate of this technique is comparable to those of conventional CSF diversion procedures. This is a simple, safe, and effective procedure for the management of persistent and or progressive hydrocephalus. This technique may be very useful in situations where the patient's follow-up is compromised and the patients who are from a poor economic background. Long-term results need further evaluation to assess the overall functioning of this stent technique.

  19. Lower rates of symptom recurrence and surgical revision after primary compared with secondary endoscopic third ventriculostomy for obstructive hydrocephalus secondary to aqueductal stenosis in adults.

    Science.gov (United States)

    Sankey, Eric W; Goodwin, C Rory; Jusué-Torres, Ignacio; Elder, Benjamin D; Hoffberger, Jamie; Lu, Jennifer; Blitz, Ari M; Rigamonti, Daniele

    2016-05-01

    OBJECT Endoscopic third ventriculostomy (ETV) is the treatment of choice for obstructive hydrocephalus; however, the success of ETV in patients who have previously undergone shunt placement remains unclear. The present study analyzed 103 adult patients with aqueductal stenosis who underwent ETV for obstructive hydrocephalus and evaluated the effect of previous shunt placement on post-ETV outcomes. METHODS This study was a retrospective review of 151 consecutive patients who were treated between 2007 and 2013 with ETV for hydrocephalus. One hundred three (68.2%) patients with aqueductal stenosis causing obstructive hydrocephalus were included in the analysis. Postoperative ETV patency and aqueductal and cisternal flow were assessed by high-resolution, gradient-echo MRI. Post-ETV Mini-Mental State Examination, Timed Up and Go, and Tinetti scores were compared with preoperative values. Univariate and multivariate analyses were performed comparing the post-ETV outcomes in patients who underwent a primary (no previous shunt) ETV (n = 64) versus secondary (previous shunt) ETV (n = 39). RESULTS The majority of patients showed significant improvement in symptoms after ETV; however, no significant differences were seen in any of the quantitative tests performed during follow-up. Symptom recurrence occurred in 29 (28.2%) patients after ETV, after a median of 3.0 (interquartile range 0.8-8.0) months post-ETV failure. Twenty-seven (26.2%) patients required surgical revision after their initial ETV. Patients who received a secondary ETV had higher rates of symptom recurrence (p = 0.003) and surgical revision (p = 0.003), particularly in regard to additional shunt placement/revision post-ETV (p = 0.005). These differences remained significant after multivariate analysis for both symptom recurrence (p = 0.030) and surgical revision (p = 0.043). CONCLUSIONS Patients with obstructive hydrocephalus due to aqueductal stenosis exhibit symptomatic improvement after ETV, with a

  20. Evaluation of temporal bone pneumatization on high resolution CT (HRCT) measurements of the temporal bone in normal and otitis media group and their correlation to measurements of internal auditory meatus, vestibular or cochlear aqueduct

    International Nuclear Information System (INIS)

    Nakamura, Miyako

    1988-01-01

    High resolution CT axial scans were made at the three levels of the temoral bone 91 cases. These cases consisted of 109 sides of normal pneumatization (NR group) and 73 of poor pneumatization resulted by chronic otitis (OM group). NR group included sensorineural hearing loss cases and/or sudden deafness on the side. Three levels of continuous slicing were chosen at the internal auditory meatus, the vestibular and the cochlear aqueduct, respectively. In each slice two sagittal and two horizontal measurements were done on the outer contour of the temporal bone. At the proper level, diameter as well as length of the internal acoustic meatus, the vestibular or the cochlear aqueduct were measured. Measurements of the temporal bone showed statistically significant difference between NR and OM groups. Correlation of both diameter and length of the internal auditory meatus to the temporal bone measurements were statistically significant. Neither of measurements on the vestibular or the cochlear aqueduct showed any significant correlation to that of the temporal bone. (author)

  1. Disturbances of cerebrospinal fluid (CSF) circulation - neuro psychiatric symptoms and neuroradiological contribution

    International Nuclear Information System (INIS)

    Hofmann, E.; Becker, T.; Meixensberger, J.; Jackel, M.; Schneider, M.; Reichmann, H.

    1995-01-01

    The present study aims at relating dementia, pseudo-neurasthenic and affective organic brain syndromes to underlying types of CSF flow disorder and to the subsequent alteration of anatomy. T 2 * -weighted magnetic resonance imaging (MRI) in the mid sagittal plane permitted an analysis of aqueductal CSF flow phenomena and hydrocephalus-induced elevation, thinning and dorsal impingement of the corpus callosum. Furthermore, the width of the third ventricle was measured on the transverse scout images. 72 patients with communicating hydrocephalus (increased aqueductal CSF pulsations) and 26 patients with aqueductal stenosis (absence of aqueductal flow phenomena) were compared with 22 controls. Dementia and affective disorders were distributed equally among both CSF flow subgroups whereas pseudo-neurasthenic syndromes were observed more frequently in non-communicating hydrocephalus (p < 0.03). Alzheimer-type and multi infarct dementia syndromes were found more frequently in communicating hydrocephalus whereas non-classifiable dementia showed some predilection for non-communicating hydrocephalus. Callosal height, area and third ventricular width did not predict affective or pseudo neurasthenic disorder whereas third ventricular width (p < 0.01) and callosal area (p < 0.05) discriminated between demented and non-demented patients. Dorsal impingement of the corpus callosum by the falx was a non-specific finding. (author)

  2. Bidirectional recovery patterns of Mojave Desert vegetation in an aqueduct pipeline corridor after 36 years: I. Perennial shrubs and grasses

    Science.gov (United States)

    Berry, Kristin H.; Weigand, James F.; Gowan, Timothy A.; Mack, Jeremy S.

    2015-01-01

    We studied recovery of 21 perennial plant species along a severely disturbed aqueduct corridor in a Larrea tridentata-Ambrosia dumosa plant alliance in the Mojave Desert 36 years after construction. The 97-m wide corridor contained a central dirt road and buried aqueduct pipeline. We established transects at 0 m (road verge), 20 m and 40 m into the disturbance corridor, and at 100 m in undisturbed habitat (the control). Although total numbers of shrubs per transect did not vary significantly with distance from the verge, canopy cover of shrubs, species richness, and species diversity were higher in the control than at the verge and other distances. Canopy cover of common shrubs (Ericameria nauseosa, Ambrosia salsola, A. dumosa, L. tridentata, Grayia spinosa) and perennial grasses (Elymus elymoides, Poa secunda) also varied significantly by location. Discriminant analysis clearly separated the four distances based on plant composition. Patterns of recovery were bidirectional: secondary succession from the control into the disturbance corridor and inhibition from the verge in the direction of the control. Time estimated for species composition to resemble the control is dependent on location within the disturbance corridor and could be centuries at the road verge. Our findings have applications to other deserts.

  3. Vestibular Dysfunction in Patients with Enlarged Vestibular Aqueduct.

    Science.gov (United States)

    Zalewski, Chris K; Chien, Wade W; King, Kelly A; Muskett, Julie A; Baron, Rachel E; Butman, John A; Griffith, Andrew J; Brewer, Carmen C

    2015-08-01

    Enlarged vestibular aqueduct (EVA) is the most common inner ear malformation. While a strong correlative relationship between EVA and hearing loss is well established, its association with vestibular dysfunction is less well understood. In this study, we examine the effects of EVA on the vestibular system in patients with EVA. Prospective, cross-sectional study of a cohort ascertained between 1999 and 2013. National Institutes of Health Clinical Center, a federal biomedical research facility. In total, 106 patients with unilateral or bilateral EVA, defined as a midpoint diameter greater than 1.5 mm, were referred or self-referred to participate in a study of the clinical and molecular aspects of EVA. Clinical history was ascertained with respect to the presence or absence of various vestibular signs and symptoms and history of head trauma. Videonystagmography (VNG), cervical vestibular evoked myogenic potential (cVEMP), and rotational vestibular testing (RVT) were performed to assess the vestibular function. Of the patients with EVA, 45% had vestibular signs and symptoms, and 44% of tested patients had abnormal VNG test results. An increased number of vestibular signs and symptoms was correlated with the presence of bilateral EVA (P = .008) and a history of head injury (P VNG results also correlated with a history of head injury (P = .018). Vestibular dysfunction is common in patients with EVA. However, not all patients with vestibular signs and symptoms have abnormal vestibular test results. Clinicians should be aware of the high prevalence of vestibular dysfunction in patients with EVA. © American Academy of Otolaryngology—Head and Neck Surgery Foundation 2015.

  4. MR imaging of the vestibular aqueduct in normal volunteers and patients with Meniere's disease

    International Nuclear Information System (INIS)

    Naganawa, Shinji; Asai, Hideaki; Ishigaki, Takeo; Sakuma, Sadayuki

    1991-01-01

    In this paper we attempted MR visualization of the vestibular aqueduct (VA) with a surface coil. Sagittal plane was most preferable from the result of preliminary study using a dry temporal bone. In all of ten normal volunteers, VAs were visualized well. In none of them, proton-density weighted spin-echo (SE) images were inferior to both T1- and T2-weighted SE images. In four of eight patients with Meniere's disease, VAs were not visualized due to obstruction of VA, although in all of ten non-Meniere's disease patients with hearing loss or vertigo, VAs were well visualized. Although further investigation is needed, MR imaging of VA including both its content and surrounding bony structure would give important information to manage the patients with either Meniere's disease or other disorders of internal ears. (author)

  5. The value of early and comprehensive diagnoses in a human fetus with hydrocephalus and progressive obliteration of the aqueduct of Sylvius: Case Report.

    Science.gov (United States)

    Ortega, Eduardo; Muñoz, Rosa I; Luza, Nelly; Guerra, Francisco; Guerra, Monserrat; Vio, Karin; Henzi, Roberto; Jaque, Jaime; Rodriguez, Sara; McAllister, James P; Rodriguez, Esteban

    2016-04-11

    Mutant rodent models have highlighted the importance of the ventricular ependymal cells and the subcommissural organ (a brain gland secreting glycoproteins into the cerebrospinal fluid) in the development of fetal onset hydrocephalus. Evidence indicates that communicating and non-communicating hydrocephalus can be two sequential phases of a single pathological phenomenon triggered by ependymal disruption and/or abnormal function of the subcommissural organ. We have hypothesized that a similar phenomenon may occur in human cases with fetal onset hydrocephalus. We report here on a case of human fetal communicating hydrocephalus with no central nervous system abnormalities other than stenosis of the aqueduct of Sylvius (SA) that became non-communicating hydrocephalus during the first postnatal week due to obliteration of the cerebral aqueduct. The case was followed closely by a team of basic and clinic investigators allowing an early diagnosis and prediction of the evolving pathophysiology. This information prompted neurosurgeons to perform a third ventriculostomy at postnatal day 14. The fetus was monitored by ultrasound, computerized axial tomography and magnetic resonance imaging (MRI). After birth, the follow up was by MRI, electroencephalography and neurological and neurocognitive assessments. Cerebrospinal fluid (CSF) collected at surgery showed abnormalities in the subcommissural organ proteins and the membrane proteins L1-neural cell adhesion molecule and aquaporin-4. The neurological and neurocognitive assessments at 3 and 6 years of age showed neurological impairments (epilepsy and cognitive deficits). (1) In a hydrocephalic fetus, a stenosed SA can become obliterated at perinatal stages. (2) In the case reported, a close follow up of a communicating hydrocephalus detected in utero allowed a prompt postnatal surgery aiming to avoid as much brain damage as possible. (3) The clinical and pathological evolution of this patient supports the possibility that the

  6. CT-Scans of Cochlear Implant Patients with Characteristics of Pendred Syndrome

    Directory of Open Access Journals (Sweden)

    Sebastian Roesch

    2013-12-01

    Full Text Available Background: Sensorineural hearing loss (SNHL in newborns is estimated with an incidence around 1:10,000 per year and is divided into syndromic and non-syndromic forms. In case of present retrocochlear function‚ cochlear implantation allows speech and cognitive development in affected children, comparable to that of normal hearing children. Pathogenesis of SNHL remains unclear in many cases. Imaging of the temporal bone, such as computed tomography (CT and magnetic resonance imaging (MRI, can reveal conspicuous findings, e.g. enlarged vestibular aqueduct (EVA and Mondini malformation (MM of the cochlea. These malformations can be a clinical sign for Pendred syndrome. Methods: We screened CT scans of 75 cochlear implant patients for EVA and MM. Results: Six patients were observed to have either EVA alone (n=3, or MM alone (n=2, or a combination of both (n=1. Further malformations of the temporal bone could be found within the whole group, as well. Conclusion: Our results confirm the general opinion on EVA and MM, being commonly found in patients with SNHL. A possible association with Pendred syndrome needs to be confirmed by genetic investigations with search for mutations in the SLC26A4 gene and further clinical tests, such as Perchlorate test for surveillance of thyroid function.

  7. Intracranial CSF flow on cine-MR. 2. Qualitative analysis in CSF dynamics by MR signal ratio of CSF to fat tissue in healthy subjects and patients with aqueduct stenosis

    International Nuclear Information System (INIS)

    Kadowaki, Chikafusa; Hara, Mitsuhiro; Takeuchi, Kazuo; Saito, Isamu

    1994-01-01

    Changes in MR signal intensities (SIs) of CSF and relative MR signal ratios (SRs) of intraventricular CSF to fat tissue were evaluated in 5 healthy adults on cine MR images during a cardiac cycle in a study of normal intracranial CSF dynamics. The altered patterns of MR SIs and SRs in 6 patients with aqueduct stenosis were compared with normal CSF flow patterns in a demonstration of CSF dynamics changes. MR SIs of CSF within the ventricles were measured on each cine image obtained by cardiac gated, multiframe, cine MR imaging. Chronological changes in MR SIs and SRs during a cardiac cycle were compared with the actual CSF flow visualized on real cine images. In normal CSF circulation, MR SIs of CSF within the ventricles were reduced quickly following an R-wave on ECG to 15% of the R-R interval, after which SIs fluctuated slightly. These changes in MR SIs of CSF could only be related to the pulsatile CSF flow through the foramen of Monro into the anterior part of the third ventricle during early cardiac systole. MR SRs of CSF to fat tissue fluctuated according to the actual CSF flow within the ventricles during a cardiac cycle. MR SRs in the third ventricle decreased to 20-30% of the R-R interval following the R-wave due to downward CSF flow during early cardiac systole, and decreased again from late cardiac systole to diastole due to caudal CSF flow in the third ventricle. In the fourth ventricle, MR SRs of CSF decreased to 60-80% of the R-R interval because of the CSF flow through the aqueduct during cardiac diastole. In patients with aqueduct stenosis, MR SRs of CSF within the ventricles fluctuated randomly, and the amplitude of MR SRs was also greater than in subjects with a patent aqueduct. These changes were identified as turbulence and stagnation due to obstruction in the CSF pathway. Analysis of chronological changes in MR signal ratios of CSF to fat is useful in demonstrating the pathophysiologic features of intracranial CSF dynamics. (author) 52 refs

  8. Operation Aqueduct: Onsite radiological safety report for announced nuclear tests, October 1989--September 1990

    International Nuclear Information System (INIS)

    Hernandez, G.M.; Jacklin, A.K.

    1992-01-01

    Aqueduct was the name assigned to the series of underground nuclear weapons tests conducted at the Nevada Test Site (NTS) from October 1, 1989, through September 30, 1990. This report includes those experiments publicly announced. Remote radiation measurements were taken during and after each nuclear event by a telemetry system. Reynolds Electrical ampersand Engineering Co., Inc. (REECO) Health Protection Department (HPD) Radiation Protection Technicians (RPTS) with portable radiation detection instruments surveyed reentry routes into ground zeros (GZ) before other planned entries were made. Continuous surveillance was provided while personnel were in radiation areas and appropriate precautions were taken to protect persons from unnecessary exposure to radiation and toxic gases. Protective clothing and equipment were issued as needed. Complete radiological safety and industrial hygiene (IH) coverage was provided during drilling and mineback operations. Telemetered and portable radiation detector measurements are listed. Detection instrumentation used is described and specific operational procedures are defined

  9. Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome.

    Science.gov (United States)

    Soh, Lip Min; Druce, Maralyn; Grossman, Ashley B; Differ, Ann-Marie; Rajput, Liala; Bitner-Glindzicz, Maria; Korbonits, Márta

    2015-02-01

    Patients with Pendred syndrome have genotypic and phenotypic variability, leading to challenges in definitive diagnosis. Deaf children with enlarged vestibular aqueducts are often subjected to repeated investigations when tests for mutations in SLC26A4 are abnormal. This study provides genotype and phenotype information from patients with suspected Pendred syndrome referred to a single clinical endocrinology unit. A retrospective analysis of 50 patients with suspected Pendred syndrome to investigate the correlation between genetic, perchlorate discharge test (PDT) and endocrine status. Eight patients with monoallelic SLC26A4 mutations had normal PDT. Of the 33 patients with biallelic mutations, ten of 12 patients with >30% discharge developed hypothyroidism. In our cohort, c.626G>T and c.3-2A>G result in milder clinical presentations with lower median perchlorate discharge of 9.3% (interquartile range 4-15%) compared with 40% (interquartile range 21-60%) for the remaining mutations. Eight novel mutations were detected. All patients with PDT 30% have a high risk of developing goitre and hypothyroidism, and should have lifelong monitoring. © 2015 European Society of Endocrinology.

  10. The Korsakoff syndrome: clinical aspects, psychology and treatment.

    Science.gov (United States)

    Kopelman, Michael D; Thomson, Allan D; Guerrini, Irene; Marshall, E Jane

    2009-01-01

    The Korsakoff syndrome is a preventable memory disorder that usually emerges (although not always) in the aftermath of an episode of Wernicke's encephalopathy. The present paper reviews the clinical and scientific literature on this disorder. A systematic review of the clinical and scientific literature on Wernicke's encephalopathy and the alcoholic Korsakoff syndrome. The Korsakoff syndrome is most commonly associated with chronic alcohol misuse, and some heavy drinkers may have a genetic predisposition to developing the syndrome. The characteristic neuropathology includes neuronal loss, micro-haemorrhages and gliosis in the paraventricular and peri-aqueductal grey matter. Lesions in the mammillary bodies, the mammillo-thalamic tract and the anterior thalamus may be more important to memory dysfunction than lesions in the medial dorsal nucleus of the thalamus. Episodic memory is severely affected in the Korsakoff syndrome, and the learning of new semantic memories is variably affected. 'Implicit' aspects of memory are preserved. These patients are often first encountered in general hospital settings where they can occupy acute medical beds for lengthy periods. Abstinence is the cornerstone of any rehabilitation programme. Korsakoff patients are capable of new learning, particularly if they live in a calm and well-structured environment and if new information is cued. There are few long-term follow-up studies, but these patients are reported to have a normal life expectancy if they remain abstinent from alcohol. Although we now have substantial knowledge about the nature of this disorder, scientific questions (e.g. regarding the underlying genetics) remain. More particularly, there is a dearth of appropriate long-term care facilities for these patients, given that empirical research has shown that good practice has beneficial effects.

  11. An audit of the perioperative anaesthetic management of ...

    African Journals Online (AJOL)

    ... of the aqueduct of Sylvius, myelomeningocele and Dandy-Walker syndrome, or acquired .... co-morbidities, associated syndromes, American Society of .... Although the large head size ... of type 1 respiratory failure from right upper lobe pneumonia. .... Incidence, its predictive factors and impact on the prognosis Journal.

  12. Inner ear anomalies seen on CT images in people with Down syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Intrapiromkul, Jarunee; Aygun, Nafi; Yousem, David M. [The Johns Hopkins Medical Institutions, The Russell H. Morgan Department of Radiology and Radiological Sciences, Baltimore, MD (United States); Tunkel, David E. [The Johns Hopkins Medical Institutions, Department of Otolaryngology-Head and Neck Surgery, Baltimore, MD (United States); Carone, Marco [University of California, Division of Biostatistics, School of Public Health, Berkeley, CA (United States)

    2012-12-15

    Although dysplasia of inner ear structures in Down syndrome has been reported in several histopathological studies, the imaging findings have not been widely studied. To evaluate the prevalence and clinical significance of inner ear anomalies detected on CT images in patients with Down syndrome. The temporal bone CT images of patients with Down syndrome were assessed for inner ear anomalies; clinical notes and audiograms were reviewed for hearing loss. Logistic regression models were employed to identify which CT findings were associated with sensorineural hearing loss (SNHL). Inner ear anomalies were observed in 74.5% (38/51) of patients. Malformed bone islands of lateral semicircular canal (LSCC), narrow internal auditory canals (IACs), cochlear nerve canal stenoses, semicircular canal dehiscence (SCCD), and enlarged vestibular aqueducts were detected in 52.5% (53/101), 24.5% (25/102), 21.4% (21/98), 8.8% (9/102) and 2% (2/101) of patients' ears, respectively. IAC stenosis had the highest odds ratio (OR = 5.37, 95% CI: 1.0-28.9, P = 0.05) for SNHL. Inner ear anomalies occurred in 74.5% of our population, with malformed (<3 mm) bone island of LSCC being the most common (52.5%) anomaly. Narrow IAC was seen in 24.5% of patients with Down syndrome and in 57.1% of ears with SNHL. High-resolution CT is a valuable for assessing the cause of hearing loss in people with Down syndrome. (orig.)

  13. Inner ear anomalies seen on CT images in people with Down syndrome

    International Nuclear Information System (INIS)

    Intrapiromkul, Jarunee; Aygun, Nafi; Yousem, David M.; Tunkel, David E.; Carone, Marco

    2012-01-01

    Although dysplasia of inner ear structures in Down syndrome has been reported in several histopathological studies, the imaging findings have not been widely studied. To evaluate the prevalence and clinical significance of inner ear anomalies detected on CT images in patients with Down syndrome. The temporal bone CT images of patients with Down syndrome were assessed for inner ear anomalies; clinical notes and audiograms were reviewed for hearing loss. Logistic regression models were employed to identify which CT findings were associated with sensorineural hearing loss (SNHL). Inner ear anomalies were observed in 74.5% (38/51) of patients. Malformed bone islands of lateral semicircular canal (LSCC), narrow internal auditory canals (IACs), cochlear nerve canal stenoses, semicircular canal dehiscence (SCCD), and enlarged vestibular aqueducts were detected in 52.5% (53/101), 24.5% (25/102), 21.4% (21/98), 8.8% (9/102) and 2% (2/101) of patients' ears, respectively. IAC stenosis had the highest odds ratio (OR = 5.37, 95% CI: 1.0-28.9, P = 0.05) for SNHL. Inner ear anomalies occurred in 74.5% of our population, with malformed (<3 mm) bone island of LSCC being the most common (52.5%) anomaly. Narrow IAC was seen in 24.5% of patients with Down syndrome and in 57.1% of ears with SNHL. High-resolution CT is a valuable for assessing the cause of hearing loss in people with Down syndrome. (orig.)

  14. Progressive irreversible hearing loss is caused by stria vascularis degeneration in an Slc26a4-insufficient mouse model of large vestibular aqueduct syndrome.

    Science.gov (United States)

    Ito, T; Nishio, A; Wangemann, P; Griffith, A J

    2015-12-03

    Hearing loss of patients with enlargement of the vestibular aqueduct (EVA) can fluctuate or progress, with overall downward progression. The most common detectable cause of EVA is mutations of SLC26A4. We previously described a transgenic Slc26a4-insufficient mouse model of EVA in which Slc26a4 expression is controlled by doxycycline administration. Mice that received doxycycline from conception until embryonic day 17.5 (DE17.5; doxycycline discontinued at embryonic day 17.5) had fluctuating hearing loss between 1 and 6 months of age with an overall downward progression after 6 months of age. In this study, we characterized the cochlear functional and structural changes underlying irreversible hearing loss in DE17.5 mice at 12 months of age. The endocochlear potential was decreased and inversely correlated with auditory brainstem response thresholds. The stria vascularis was thickened and edematous in ears with less severe hearing loss, and thinned and atrophic in ears with more severe hearing loss. There were pathologic changes in marginal cell morphology and gene expression that were not observed at 3 months. We conclude that strial dysfunction and degeneration are the primary causes of irreversible progressive hearing loss in our Slc26a4-insufficient mouse model of EVA. This model of primary strial atrophy may be used to explore the mechanisms of progressive hearing loss due to strial dysfunction. Published by Elsevier Ltd.

  15. Aqueducts and geoglyphs : the response of Ancient Nasca to water shortages in the desert of Atacama (Peru)

    Science.gov (United States)

    Masini, Nicola; Lasaponara, Rosa

    2016-04-01

    The desert of Atacama is a plateau in South America, covering a 1,000-kilometre strip of land on the Pacific coast, west of the Andes mountains, between Chile and Peru. Due to the confluence of a cold ocean current (the Humboldt Current) along with other climatic factors, connected to the particular topography and geomorphology of the region, Atacama desert is one of the most arid areas of the world. In particular, in Nasca region (Southern Peru) the lack of water was (and still is) due to the following causes: (i) the scarce pluvial precipitations and the (ii) high infiltration capacity, and the consequent yearly significant reduction of the surface water (Schreiber & Lancho Rojas 2009). Over the millennia long periods of drought occurred and frequently the lack of water was persistent for several decades. Despite the arid and extreme nature of the environment, this region was populated by important civilizations, such as Paracas and Nasca, which flourished in the Early Intermediate period (200 BCE-500 AD) (Silvermann & Proulx 2002). In particular the Nasca civilization is well-known for its refined and colourful pottery, characterized by a rich icononographic repertory, and, above all, by the huge and mysterious geoglyphs drawn on the arid plateaus of the Rio Grande de Nasca Basin. In order to practice agriculture, the Nasca developed adequate strategies to cope with hostile environmental factors and water scarcity, building a very efficient aqueduct system. They were aided by the fact that underground water was likely enough close to the surface and accessible by constructing wells and underground aqueducts, known with quechua name of puquios (Schreiber & Lancho Rojas 2009; Lasaponara & Masini 2012a; 2012b) The effectiveness of the techniques of hydraulic engineering depended on the climate and the weather events that sometimes underwent drastic changes, as results of the cyclical phenomenon of El Niño Southern Oscillation (commonly called ENSO). Hence the

  16. Establishment of a fish community in the hayden-rhodes and salt-gila aqueducts, Arizona

    Science.gov (United States)

    Mueller, G.

    1996-01-01

    Fish populations were studied in the Central Arizona Project's canal system during the first 4 years of aqueduct operation (1986-1989). Ichthyoplankton entering the canal from Lake Havasu averaged 1 larva/m3 during April-June 1987 and 1988. Larval fish densities increased significantly in downstream samples, substantiating diver observations that fish were spawning in the canal system. Of the 16 fish species collected, 14 were assumed to have originated from Lake Havasu and 2 were introduced by anglers from their bait buckets. Initially, the fish community was dominated numerically by threadfin shad Dorosoma petenense (>88%), centrarchids (< 10%), cyprinids (<2%), and striped bass Morone saxatilis (<1%). However, as annual water diversions increased from 13 x 108 m3 in 1986 to 9.4 x 108 m3 in 1989, community composition shifted from clupeids to centrarchids (70%). Fish densities dropped from an estimated 1,260 fish/ha in 1986 to 17 fish/ha in 1989, and biomass dropped from 116 to 73 kg/ha. Declines were attributed to higher operational velocities, associated scour, deprivation, and predation. Although initial populations adjusted downward to planned operational conditions, the fish community continued to represent a potentially valuable, but as yet unused, resource.

  17. Climate Change and Adaptation Planning on the Los Angeles Aqueduct

    Science.gov (United States)

    Roy, S. B.; Bales, R. C.; Costa-Cabral, M. C.; Chen, L.; Maurer, E. P.; Miller, N. L.; Mills, W. B.

    2009-12-01

    This study provides an assessment of the potential impacts of climate change on the Eastern Sierra Nevada snowpack and snowmelt timing, using a combination of empirical (i.e., data-based) models, and computer simulation models forced by GCM-projected 21st century climatology (IPCC 2007 AR4 projections). Precipitation from the Eastern Sierra Nevada is one of the main water sources for Los Angeles' more than 4 million people - a source whose future availability is critical to the city's growing population and large economy. Precipitation in the region falls mostly in winter and is stored in the large natural reservoir that is the snowpack. Meltwater from the Eastern Sierra is delivered to the city by the 340-mile long Los Angeles Aqueducts. The analysis is focused on the nature of the impact to the LAA water supplies over the 21st century due to potential climate change, including volume of precipitation, the mix of snowfall and rainfall, shifts in the timing of runoff, interannual variability and multi-year droughts. These impacts further affect the adequacy of seasonal and annual carryover water storage, and potentially water treatment. Most of the snow in the 10,000 km^2 Mono-Owens basins that feed the LAA occurs in a relatively narrow, 10-20 km wide, high-elevation band on the steep slopes of 20 smaller basins whose streams drain into the Owens River and thence LAA. Extending over 240 km in the north-south direction, these basins present special challenges for estimating snowpack amounts and downscaling climate-model data. In addition, there are few meteorological stations and snow measurements in the snow-producing parts of the basins to drive physically based hydrologic modeling.

  18. KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA in Chinese subjects.

    Directory of Open Access Journals (Sweden)

    Jiandong Zhao

    Full Text Available BACKGROUND: Nonsyndromic enlargement of vestibular aqueduct (NSEVA is an autosomal recessive hearing loss disorder that is associated with mutations in SLC26A4. However, not all patients with NSEVA carry biallelic mutations in SLC26A4. A recent study proposed that single mutations in both SLC26A4 and KCNJ10 lead to digenic NSEVA. We examined whether KCNJ10 excert a role in the pathogenesis of NSEVA in Chinese patients. METHODS: SLC26A4 was sequenced in 1056 Chinese patients with NSEVA. KCNJ10 was screened in 131 patients who lacked mutations in either one or both alleles of SLC26A4. Additionally, KCNJ10 was screened in 840 controls, including 563 patients diagnosed with NSEVA who carried biallelic SLC26A4 mutations, 48 patients with nonsyndromic hearing loss due to inner ear malformations that did not involve enlargement of the vestibular aqueduct (EVA, 96 patients with conductive hearing loss due to various causes, and 133 normal-hearing individuals with no family history of hereditary hearing loss. RESULTS: 925 NSEVA patients were found carrying two-allele pathogenic SLC26A4 mutations. The most frequently detected KCNJ10 mutation was c.812G>A (p.R271H. Compared with the normal-hearing control subjects, the occurrence rate of c.812G>A in NSEVA patients with lacking mutations in one or both alleles of SLC26A4 had no significant difference(1.53% vs. 5.30%, χ(2 = 2.798, p = 0.172, which suggested that it is probably a nonpathogenic benign variant. KCNJ10 c.1042C>T (p.R348C, the reported EVA-related mutation, was not found in patients with NSEVA who lacked mutations in either one or both alleles of SLC26A4. Furthermore, the normal-hearing parents of patients with NSEVA having two SLC26A4 mutations carried the KCNJ10 c.1042C>T or c.812G>A mutation and a SLC26A4 pathogenic mutation. CONCLUSION: SLC26A4 is the major genetic cause in Chinese NSEVA patients, accounting for 87.59%. KCNJ10 may not be a contributor to NSEVA in Chinese population. Other

  19. Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China.

    Directory of Open Access Journals (Sweden)

    Hong Wu

    Full Text Available The aim of this study was to evaluate the GoldenGate microarray as a diagnostic tool and to elucidate the contribution of the genes on this array to the development of both nonsyndromic and syndromic sensorineural hearing loss in China.We developed a microarray to detect 240 mutations underlying syndromic and nonsyndromic sensorineural hearing loss. The microarray was then used for analysis of 382 patients with nonsyndromic sensorineural hearing loss (including 15 patients with enlarged vestibular aqueduct syndrome, 21 patients with Waardenburg syndrome, and 60 unrelated controls. Subsequently, we analyzed the sensitivity, specificity, and reproducibility of this new approach after Sanger sequencing-based verification, and also determined the contribution of the genes on this array to the development of distinct hearing disorders.The sensitivity and specificity of the microarray chip were 98.73% and 98.34%, respectively. Genetic defects were identified in 61.26% of the patients with nonsyndromic sensorineural hearing loss, and 9 causative genes were identified. The molecular etiology was confirmed in 19.05% and 46.67% of the patients with Waardenburg syndrome and enlarged vestibular aqueduct syndrome, respectively.Our new mutation-based microarray comprises an accurate and comprehensive genetic tool for the detection of sensorineural hearing loss. This microarray-based detection method could serve as a first-pass screening (before next-generation-sequencing screening for deafness-causing mutations in China.

  20. The application of high-resolution CT in the visualization of the vestibular aqueduct (Meniere's disease) and labyrinthine otospongiosis

    International Nuclear Information System (INIS)

    Zonneveld, F.W.; Groot, J.A.M. de; Huizing, E.H.; Damsma, H.; Waes, P.F.G.M. van

    1984-01-01

    Ever since the introduction of temporal bone imaging by means of high-resolution CT, it appears that the combination of high spatial resolution, high density resolution and the freedom of patient positioning for scanning of optimal otological planes may play a unique role in the diagnosis and follow-up of a number of otological disorder. Two examples are described here. The first is the possibility of determining whether the vestibular aqueduct in idiopathic Meniere's disease is obliterated or not, and if so, whether it is a bony or a fibrous obliteration. Although the results are preliminary, there are indications that all three cathegories occur and that the efficacy of drainage of the endolymphatic sac can be evaluated prior to surgery. The second example is the possibility of outlining and quantifying the bone mineral loss in cases of labyrinthine otospongiosis. Preliminary studies have outlined that there is a relationship between the degree of decalcification and the severity of sensorineural hearing loss. These examples show high-resolution, thin-section multiplanar CT to have great potential in the diagnosis and treatment of otological disorders. This will become evident as the techniques that were used here are worked out in more detail and become more widely known. (orig.)

  1. MR Elastography Can Be Used to Measure Brain Stiffness Changes as a Result of Altered Cranial Venous Drainage During Jugular Compression.

    Science.gov (United States)

    Hatt, A; Cheng, S; Tan, K; Sinkus, R; Bilston, L E

    2015-10-01

    Compressing the internal jugular veins can reverse ventriculomegaly in the syndrome of inappropriately low pressure acute hydrocephalus, and it has been suggested that this works by "stiffening" the brain tissue. Jugular compression may also alter blood and CSF flow in other conditions. We aimed to understand the effect of jugular compression on brain tissue stiffness and CSF flow. The head and neck of 9 healthy volunteers were studied with and without jugular compression. Brain stiffness (shear modulus) was measured by using MR elastography. Phase-contrast MR imaging was used to measure CSF flow in the cerebral aqueduct and blood flow in the neck. The shear moduli of the brain tissue increased with the percentage of blood draining through the internal jugular veins during venous compression. Peak velocity of caudally directed CSF in the aqueduct increased significantly with jugular compression (P drainage through the internal jugular veins during jugular compression have stiffer brains than those who divert venous blood through alternative pathways. These methods may be useful for studying this phenomenon in patients with the syndrome of inappropriately low-pressure acute hydrocephalus and other conditions. © 2015 by American Journal of Neuroradiology.

  2. Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA

    Science.gov (United States)

    Pera, Alejandra; Dossena, Silvia; Rodighiero, Simona; Gandía, Marta; Bottà, Guido; Meyer, Giuliano; Moreno, Felipe; Nofziger, Charity; Hernández-Chico, Concepción; Paulmichl, Markus

    2008-01-01

    Pendred syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss, with malformations of the inner ear, ranging from enlarged vestibular aqueduct (EVA) to Mondini malformation, and deficient iodide organification in the thyroid gland. Nonsyndromic EVA (ns-EVA) is a separate type of sensorineural hearing loss showing normal thyroid function. Both Pendred syndrome and ns-EVA seem to be linked to the malfunction of pendrin (SLC26A4), a membrane transporter able to exchange anions between the cytosol and extracellular fluid. In the past, the pathogenicity of SLC26A4 missense mutations were assumed if the mutations fulfilled two criteria: low incidence of the mutation in the control population and substitution of evolutionary conserved amino acids. Here we show that these criteria are insufficient to make meaningful predictions about the effect of these SLC26A4 variants on the pendrin-induced ion transport. Furthermore, we functionally characterized 10 missense mutations within the SLC26A4 ORF, and consistently found that on the protein level, an addition or omission of a proline or a charged amino acid in the SLC26A4 sequence is detrimental to its function. These types of changes may be adequate for predicting SLC26A4 functionality in the absence of direct functional tests. PMID:19017801

  3. Hearing loss associated with enlarged vestibular aqueduct and zero or one mutant allele of SLC26A4.

    Science.gov (United States)

    Rose, Jane; Muskett, Julie A; King, Kelly A; Zalewski, Christopher K; Chattaraj, Parna; Butman, John A; Kenna, Margaret A; Chien, Wade W; Brewer, Carmen C; Griffith, Andrew J

    2017-07-01

    To characterize the severity and natural history of hearing loss, and the prevalence of having a cochlear implant in a maturing cohort of individuals with enlarged vestibular aqueduct (EVA) and zero or one mutant allele of SLC26A4. Prospective cohort study of subjects ascertained between 1998 and 2015 at the National Institutes of Health Clinical Center. Study subjects were 127 individuals (median age, 8 years; range, 0-59 years) with EVA in at least one ear. Ears with EVA and zero or one mutant allele of SLC26A4 had mean 0.5/1/2/4-kHz pure-tone averages of 62.6 and 52.9 dB HL, respectively, in contrast to EVA ears with two mutant alleles of SLC26A4 (88.1 dB HL; P zero, one, and two mutant alleles, respectively (P = .00833). This association was not independent (P = .534) but reflected underlying correlations with age at time of first audiogram (P = .003) or severity of hearing loss (P = .000). Ears with EVA and zero or one mutant allele of SLC26A4 have less severe hearing loss, no difference in prevalence of fluctuation, and a lower prevalence of cochlear implantation in comparison to ears with two mutant alleles of SLC26A4. NA Laryngoscope, 127:E238-E243, 2017. © 2016 The American Laryngological, Rhinological and Otological Society, Inc.

  4. Image-guided, microsurgical topographic anatomy of the endolymphatic sac and vestibular aqueduct via a suboccipital retrosigmoid approach.

    Science.gov (United States)

    Colasanti, Roberto; Tailor, Al-Rahim Abbasali; Zhang, Jun; Ammirati, Mario

    2015-10-01

    The endolymphatic sac (ES) and the vestibular aqueduct (VA) are often in the surgical field when posterior fossa lesions are targeted using retrosigmoid approaches. The purpose of this work is to validate neuronavigator accuracy in predicting VA location as well as to give guidelines to preserve the ES and VA. A retrosigmoid approach was performed bilaterally in six specimens in the semisitting position. Preoperatively, we registered in the CT scans the position of the VA genu (virtual genu). After the approach execution, ES and VA genu topographic relationships with evident posterolateral cranial base structures were measured using neuronavigation. Next, we exposed the VA genu: its position coincided with the virtual VA genu in all the specimens. On the average, the ES was 17.93 mm posterosuperolateral to the XI nerve in the jugular foramen, 12.26 mm posterolateral to the internal acoustic meatus, 20.13 mm anteromedial to the petro-sigmoid intersection at a point 13.30 mm inferior to the petrous ridge. The VA genu was located 7.23 mm posterolateral to the internal acoustic meatus, 18.11 mm superolateral to the XI nerve in the jugular foramen, 10.27 mm inferior to the petrous ridge, and 6.28 mm anterolateral to the endolymphatic ledge at a depth of 3.46 mm from the posterior pyramidal wall. Our study demonstrates that is possible to use neuronavigation to reliably predict the location of the VA genu. In addition, neuronavigation may be effectively used to create a topographical framework that may help maintaining the integrity of the ES/VA during retrosigmoid approaches.

  5. The Architectural-Historical Analysis and Restitution of 'Alvan Aqueduct Remnant Setting Light to the Historical Water Wheels of Antakya: "Nauras" / Antakya’nın Tarihi Su Dolapları “Naura”lara Işık Tutan ‘Alvân Su Kemeri Kalıntısının Mimarî-Tarihî Analizi ve Restitüsyonu

    Directory of Open Access Journals (Sweden)

    Ender ÖZBAY

    2014-04-01

    Full Text Available Constructed for the purpose of water-lifting through the rivers to the high residential areas and fields, naura (noria is a type of monumental water wheel in which a wooden wheel and masonry elements comprise a functional features as well as aesthetic aspects. The researches and investigations conducted on the ruins of the aqueduct which is located by side of Asi River in Haraparası district of Antakya city have shown that this structure descends from a naura type that has not survived to the present day. Suggestions related to the original condition of the aqueduct remnants whose layout plan and façade surveys are produced after an on-the-spot-check by making consistent restitution plans and three-dimensional modeling with some historical records, old photographs and measurements are put forward. Accordingly, the aqueduct remnant, which is resolved and reviewed as the set-out part, arched and solid part having diverse features from the west to the east, originally belongs to a twin wheel naura structure. The wooden wheels, existing among the towered pillar units jointed to the west end of the aqueduct and raising water from the river to the aqueduct by means of the divisions within by turning with the driving power of the river current, serve to water the famous Alvân Gardens of the region. Naura and the aqueduct belonged to a big complex which consistsed of two buildings of a mill. The proposed naura bears the characteristics special to Antakya region's surroundings having different features of samples which are widely known and available in Hama. [TR: Naura, yüksekte kalan yerleşim ve tarlalara nehirden su aktarmak üzere inşa edilen, ahşap bir çarkın kâgir unsurlarla bir arada, işlevsel olduğu kadar estetik bir bütün oluşturduğu anıtsal bir su dolabı türüdür. Antakya’nın Haraparası Mahallesi’nde, Asi Nehri kenarında bulunan su kemeri kalıntısı üzerinde yapılan incelemeler ve araştırmalar, bu yapının, g

  6. Application of phase-contrast cine magnetic resonance imaging in endoscopic aqueductoplasty.

    Science.gov (United States)

    Chen, Guoqiang; Zheng, Jiaping; Xiao, Qing; Liu, Yunsheng

    2013-06-01

    The aim of this study was to evaluate the application of phase-contrast cine magnetic resonance imaging (MRI) in endoscopic aqueductoplasty (EA) for patients with obstructive hydrocephalus. The clinical diagnosis of hydrocephalus caused by aqueduct obstruction in 23 patients was confirmed by phase-contrast cine MRI examination. The patients were treated with EA and MRI was repeated during the follow-up. The cerebrospinal fluid (CSF) flow velocity in the aqueduct was measured to determine whether the aqueduct was obstructed. The results of phase-contrast cine MRI examinations indicated that there was no CSF flow in the aqueduct for all patients prior to surgery. Aqueductoplasty was successfully performed in all patients. The results of phase-contrast cine MRI examinations performed a week after surgery demonstrated an average CSF flow velocity of 4.74±1.77 cm/sec. During the follow-up, intracranial hypertension recurred in two patients in whom CSF flow was not observed in the aqueduct by the phase-contrast cine MRI scan. Aqueduct re-occlusion was revealed by an endoscopic exploration. By measuring the CSF flow velocity, phase-contrast cine MRI accurately identifies aqueduct obstruction. Cine MRI is a nontraumatic, simple and reliable method for determining whether the aqueduct is successfully opened following aqueductoplasty.

  7. Pseudomyopia in a patient with blocked ventriculo-peritoneal shunt--a case report.

    Science.gov (United States)

    Voon, L W; Goh, K Y; Lim, T H; Tan, K K; Yong, V S

    1997-03-01

    Accommodative spasm usually encompasses a classical triad of pseudomyopia, esodeviation and pupillary constriction. Accommodative spasm is most often psychogenic in nature; however, it may be associated with other organic diseases of which a rare cause is that of intracranial catheter complications. We report a case of dorsal midbrain syndrome with pseudomyopia in a patient with a blocked ventriculo-peritoneal shunt inserted for aqueductal stenosis. Clinical presentation was unusual in this patient as pseudomyopia occurred with exodeviation and without pupillary constriction.

  8. Inner ear anatomy in Waardenburg syndrome: radiological assessment and comparison with normative data.

    Science.gov (United States)

    Kontorinis, Georgios; Goetz, Friedrich; Lanfermann, Heinrich; Luytenski, Stefan; Giesemann, Anja M

    2014-08-01

    As patients with Waardenburg syndrome (WS) represent potential candidates for cochlear implantation, their inner ear anatomy is of high significance. There is an ongoing debate whether WS is related to any inner ear dysplasias. Our objective was to evaluate radiologically the inner ear anatomy in patients with WS and identify any temporal bone malformations. A retrospective case review was carried out in a tertiary, referral center. The high resolution computed tomography (HRCT) scans of the temporal bone from 20 patients (40 ears) with WS who were managed for deafness in a tertiary referral center from 1995 to 2012 were retrospectively examined. Measurements of 15 different inner ear dimensions, involving the cochlea, the vestibule, the semicircular canals and the internal auditory meatus, as well as measurements of the vestibular aqueduct, were performed independently by two neuroradiologists. Finally, we compared the results from the WS group with a control group consisting of 50 normal hearing subjects (100 ears) and with previously reported normative values. Inner ear malformations were not found in any of the patients with WS. All measured inner ear dimensions were within the normative values compiled by our study group as well as by others. Inner ear malformations are not characteristic for all types of WS; however, certain rare subtypes might be related to inner ear deformities. Normative cochleovestibular dimensions that can help in assessing the temporal bone anatomy are provided. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  9. Further characterisation of the recently described SLC26A4 c.918+2T>C mutation and reporting of a novel variant predicted to be damaging.

    Science.gov (United States)

    Gonçalves, A C; Santos, R; O'Neill, A; Escada, P; Fialho, G; Caria, H

    2016-06-01

    Pendred syndrome (PS) is the second most common type of autosomal recessive syndromic hearing loss (HL). It is characterised by sensorineural HL and goiter with occasional hypothyroidism. These features are generally accompanied by malformations of the inner ear, as enlarged vestibular aqueduct (EVA). In about 50% of probands, mutations in the SLC26A4 gene are the cause of the disease. Here we report the case of a Portuguese female, aged 47, presenting with severe to profound HL and hypothyroidism. Her mother and sister, both deceased, had suffered from HL and goiter. By MRI and CT, an enlarged vestibular aqueduct and endolymphatic sac were observed. Molecular study of the patient included screening for GJB2 coding mutations and GJB6 common deletions followed by screening of all SLC26A4 exons, as well as intronic regions 8 and 14. Mutation c.918+2T>C was found for the first time in homozygosity in the intronic region 7 of the SLC26A4 gene. Whilst sequencing the control samples, a novel mutation c.821C>G was found in heterozygosity in the exon 7 of SLC26A4 gene and was predicted to be damaging. This study thus led to the finding of two novel SLC26A4 genotypes and provides new insight on the phenotypic features associated with PS. © Copyright by Società Italiana di Otorinolaringologia e Chirurgia Cervico-Facciale, Rome, Italy.

  10. Congenital sensorineural hearing loss

    International Nuclear Information System (INIS)

    Mafee, M.F.; Selis, J.E.; Yannias, D.A.; Valvassori, G.E.; Pruzansky, S.; Applebaum, E.L.; Capek, V.

    1984-01-01

    The ears of 47 selected patients with congenital sensorineural hearing loss were examined with complex-motion tomography. The patients were divided into 3 general categories: those with a recognized syndrome, those with sensorineural hearing loss unrelated to any known syndrome, and those with microtia. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The most common finding was the Mondini malformation or one of its variants. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Patients with microtia may also have severe inner ear abnormalities despite the fact that the outer and inner ears develop embryologically from completely separate systems

  11. Congenital sensorineural hearing loss

    Energy Technology Data Exchange (ETDEWEB)

    Mafee, M.F.; Selis, J.E.; Yannias, D.A.; Valvassori, G.E.; Pruzansky, S.; Applebaum, E.L.; Capek, V.

    1984-02-01

    The ears of 47 selected patients with congenital sensorineural hearing loss were examined with complex-motion tomography. The patients were divided into 3 general categories: those with a recognized syndrome, those with sensorineural hearing loss unrelated to any known syndrome, and those with microtia. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The most common finding was the Mondini malformation or one of its variants. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Patients with microtia may also have severe inner ear abnormalities despite the fact that the outer and inner ears develop embryologically from completely separate systems.

  12. Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene.

    Science.gov (United States)

    Saugier-Veber, Pascale; Marguet, Florent; Lecoquierre, François; Adle-Biassette, Homa; Guimiot, Fabien; Cipriani, Sara; Patrier, Sophie; Brasseur-Daudruy, Marie; Goldenberg, Alice; Layet, Valérie; Capri, Yline; Gérard, Marion; Frébourg, Thierry; Laquerrière, Annie

    2017-05-01

    Congenital hydrocephalus is considered as either acquired due to haemorrhage, infection or neoplasia or as of developmental nature and is divided into two subgroups, communicating and obstructive. Congenital hydrocephalus is either syndromic or non-syndromic, and in the latter no cause is found in more than half of the patients. In patients with isolated hydrocephalus, L1CAM mutations represent the most common aetiology. More recently, a founder mutation has also been reported in the MPDZ gene in foetuses presenting massive hydrocephalus, but the neuropathology remains unknown. We describe here three novel homozygous null mutations in the MPDZ gene in foetuses whose post-mortem examination has revealed a homogeneous phenotype characterized by multiple ependymal malformations along the aqueduct of Sylvius, the third and fourth ventricles as well as the central canal of the medulla, consisting in multifocal rosettes with immature cell accumulation in the vicinity of ependymal lining early detached from the ventricular zone. MPDZ also named MUPP1 is an essential component of tight junctions which are expressed from early brain development in the choroid plexuses and ependyma. Alterations in the formation of tight junctions within the ependyma very likely account for the lesions observed and highlight for the first time that primary multifocal ependymal malformations of the ventricular system is genetically determined in humans. Therefore, MPDZ sequencing should be performed when neuropathological examination reveals multifocal ependymal rosette formation within the aqueduct of Sylvius, of the third and fourth ventricles and of the central canal of the medulla.

  13. Congenital hydrocephalus following X-irradiation of pregnant rats on an early gestational day

    International Nuclear Information System (INIS)

    Takeuchi, I.K.; Takeuchi, Y.K.

    1986-01-01

    When pregnant rats were X-irradiated at a dose of 100 R on gestational day 9.5, a considerable number of postnatally-viable hydrocephalic offspring resulted, all of which were accompanied with bilateral micro- or anophthalmia. Histological studies revealed that the cerebral aqueduct of the congenital hydrocephalic brain was severely stenosed, and the subcommissural organ was reduced in size and displaced at some distance from the anterior end of the cerebral aqueduct. From embryological studies, it was considered that the maldevelopment of the subcommissural organ in the X-irradiated fetus might cause a reduction in the amount of its secretions which function as a cushion preventing complete closure of the cerebral aqueduct during fetal life, resulting in stenosis of the cerebral aqueduct

  14. Understanding Bartter syndrome and Gitelman syndrome.

    Science.gov (United States)

    Fremont, Oliver T; Chan, James C M

    2012-02-01

    We aim to review the clinical features of two renal tubular disorders characterized by sodium and potassium wasting: Bartter syndrome and Gitelman syndrome. Selected key references concerning these syndromes were analyzed, together with a PubMed search of the literature from 2000 to 2011. The clinical features common to both conditions and those which are distinct to each syndrome were presented. The new findings on the genetics of the five types of Bartter syndrome and the discrete mutations in Gitelman syndrome were reviewed, together with the diagnostic workup and treatment for each condition. Patients with Bartter syndrome types 1, 2 and 4 present at a younger age than classic Bartter syndrome type 3. They present with symptoms, often quite severe in the neonatal period. Patients with classic Bartter syndrome type 3 present later in life and may be sporadically asymptomatic or mildly symptomatic. The severe, steady-state hypokalemia in Bartter syndrome and Gitelman syndrome may abruptly become life-threatening under certain aggravating conditions. Clinicians need to be cognizant of such renal tubular disorders, and promptly treat at-risk patients.

  15. CSF flow: Correlation between signal void and CSF velocity measured by gated velocity phase-encoded MR imaging

    International Nuclear Information System (INIS)

    Mark, A.S.; Feinberg, D.A.

    1986-01-01

    The direction of the cerebrospinal fluid (CSF) flow in the foramen of Monro (FOM) and aqueduct was determined in 15 normal volunteers (5 of whom had also been studied with gated spin-echo sequences) using a cardiac-gated Fourier transform velocity imaging technique (VMR). The VMR showed that the periodic pattern of flow void seen in the aqueduct and FOM on the gated spin-echo images was due to antegrade CSF flow from the lateral ventricles into the third ventricle and aqueduct during systole and retrograde flow from the aqueduct into the third ventricle and lateral ventricles during late diastole. These findings could not be explained if the CSF pulsations originated in the third ventricle, as had been previously proposed, and suggest the lateral ventricles play an important role in the pulsatile motion of CSF

  16. Genetics Home Reference: renal tubular acidosis with deafness

    Science.gov (United States)

    ... adults with renal tubular acidosis with deafness have short stature, and many develop kidney stones. The metabolic acidosis ... enlarged vestibular aqueduct, can be seen with medical imaging. The vestibular aqueduct is a bony canal that ...

  17. [Maxillofacial and dental abnormalities in some multiple abnormality syndromes. "Cri du chat" syndrome, Wilms' tumor-aniridia syndrome; Sotos syndrome; Goldenhar syndrome].

    Science.gov (United States)

    Berio, A; Trucchi, R; Meliota, M

    1992-05-01

    The paper describes the maxillo-facial and dental anomalies observed in some chromosome and non-chromosome poly-malformative syndromes ("Cri du chat" syndrome; Wilms' tumour; Sotos' syndrome; Goldenhar's syndrome). The Authors emphasise the possibility of diagnosing these multiple deformity syndromes from maxillo-facial alterations in early infancy; anomalous tooth position and structure cal also be successfully treated immediately after the first appearance of teeth. This is a particularly promising field of pediatrics and preventive pediatric medicine.

  18. Marfan syndrome masked by Down syndrome?

    NARCIS (Netherlands)

    Vis, J.C.; Engelen, K. van; Timmermans, J.; Hamel, B.C.J.; Mulder, B.J.

    2009-01-01

    Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome.

  19. The developmental trajectory of disruptive behavior in Down syndrome, fragile X syndrome, Prader-Willi syndrome and Williams syndrome.

    Science.gov (United States)

    Rice, Lauren J; Gray, Kylie M; Howlin, Patricia; Taffe, John; Tonge, Bruce J; Einfeld, Stewart L

    2015-06-01

    The aim of this study was to investigate the developmental trajectories of verbal aggression, physical aggression, and temper tantrums in four genetic syndrome groups. Participants were part of the Australian Child to Adult Development Study (ACAD), which collected information from a cohort of individuals with an intellectual disability at five time points over 18 years. Data were examined from a total of 248 people with one of the four following syndromes: Down syndrome, Fragile X syndrome, Prader-Willi syndrome, or Williams syndrome. Changes in behaviors were measured using validated items from the Developmental Behavior Checklist (DBC). The results indicate that, while verbal aggression shows no evidence of diminishing with age, physical aggression, and temper tantrums decline with age before 19 years for people with Down syndrome, Fragile X syndrome, and William syndrome; and after 19 years for people with Prader-Willi syndrome. These findings offer a somewhat more optimistic outlook for people with an intellectual disability than has previously been suggested. Research is needed to investigate the mechanisms predisposing people with PWS to persistence of temper tantrums and physical aggression into adulthood. © 2015 Wiley Periodicals, Inc.

  20. Hamartomatous polyposis syndromes

    DEFF Research Database (Denmark)

    Jelsig, Anne Marie; Qvist, Niels; Brusgaard, Klaus

    2014-01-01

    Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as ......Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes...

  1. Cochlear implantation in Pendred syndrome and non-syndromic enlarged vestibular aqueduct – clinical challenges, surgical results, and complications

    DEFF Research Database (Denmark)

    Mey, Kristianna; Bille, Michael; Cayé-Thomasen, Per

    2016-01-01

    , and post-operative complications were retrieved. RESULTS: Complications occurred in 36% of implantations; 5% hereof major complications. Gushing/oozing from the cochleostoma occurred in 10% of implantations and was related to transient, but not prolonged post-operative vertigo. CONCLUSION: Intra......-operative risks of gushing/oozing and post-operative vertigo are the primary clinical issues in PS/NSEVA patients regarding CI. Nonetheless, the surgical success rate is high and the major complication rate is low; similar to studies of unselected series of CI recipients....

  2. Seckel syndrome: an overdiagnosed syndrome.

    OpenAIRE

    Thompson, E; Pembrey, M

    1985-01-01

    Five children in whom a diagnosis of Seckel syndrome had previously been made were re-examined in the genetic unit. One child had classical Seckel syndrome, a sib pair had the features of the syndrome with less severe short stature, and in two children the diagnosis was not confirmed. Seckel syndrome is only one of a group of low birth weight microcephalic dwarfism and careful attention should be paid to fulfillment of the major criteria defined by Seckel before the diagnosis is made. There r...

  3. Spumiform basement membrane aberrations in the microvasculature of the midbrain periaqueductal gray region in hamster : Rostro-caudal pathogenesis?

    NARCIS (Netherlands)

    Gerrits, P.O.; Kortekaas, R.; de Weerd, Heleen; Luiten, P.G.M.; van der Want, J.J.L.; Veening, Jan

    2013-01-01

    Spumiform basement membrane degeneration (sbmd) is a specific kind of aberration present in the capillaries of the midbrain periaqueductal gray (PAG) region of the senescent hamster. These capillaries, separated by the ependymal cell layer, are bordering the Sylvian cerebral aqueduct. The aqueduct,

  4. Spumiform basement membrane aberrations in the microvasculature of the midbrain periaqueductal gray region in hamster: rostro-caudal pathogenesis?

    NARCIS (Netherlands)

    Gerrits, P.O.; Kortekaas, R.; Weerd, H. de; Luiten, P.G.M.; Want, J.J. van der; Veening, J.G.

    2013-01-01

    Spumiform basement membrane degeneration (sbmd) is a specific kind of aberration present in the capillaries of the midbrain periaqueductal gray (PAG) region of the senescent hamster. These capillaries, separated by the ependymal cell layer, are bordering the Sylvian cerebral aqueduct. The aqueduct,

  5. Superior Mesenteric Artery Syndrome or Wilkie Syndrome

    International Nuclear Information System (INIS)

    Castano Llano, Rodrigo; Chams Anturi, Abraham; Arango Vargas, Paula

    2009-01-01

    We described three cases of superior mesenteric artery (SMA) syndrome, also known as Wilkie's syndrome, chronic duodenal ileus, or cast syndrome. This syndrome occurs when the third portion of the duodenum is compressed between the SMA and the aorta. The major risk factors for development of SMA syndrome are rapid weight loss and surgical correction of spinal deformities. The clinical presentation of SMA syndrome is variable and nonspecific, including nausea, vomiting, abdominal pain, and weight loss. The diagnosis is based on endoscopic, radiographic and tomographic findings of duodenal compression by the SMA. The treatment of SMA syndrome is aimed at the precipitating factor, which usually is related to weight loss. Therefore, conservative therapy with nutritional supplementation is the initial approach, and surgery is reserved for those who do not respond to nutritional therapy.

  6. Cerebrospinal fluid flow and production in patients with normal pressure hydrocephalus studied by MRI

    DEFF Research Database (Denmark)

    Gideon, P; Ståhlberg, F; Thomsen, C

    1994-01-01

    An interleaved velocity-sensitised fast low-angle shot pulse sequence was used to study cerebrospinal fluid (CSF) flow in the cerebral aqueduct, and supratentorial CSF production in 9 patients with normal pressure hydrocephalus (NPH) and 9 healthy volunteers. The peak aqueduct CSF flow, both caudal...

  7. [Clinical analysis of 102 patients with congenital inner ear malformation].

    Science.gov (United States)

    Zhu, X; Lian, N; Cai, Z

    1995-01-01

    Hearing loss and CT findings of 200 ears from 102 cases with congenital malformation of inner ear were included in our study. Hearing loss was typically bilateral severe, or total deafness. 75 percent of them were found deaf within one-year-old. In addition, 47 patients' (46%) mothers were noted to have caught a cold in first trimester of pregnancy. Temporal bone abnormalties were described as five types: 1. Michel malformation, 2. Mondini malformation, 3. enlargement of the vestibular aqueducts, 4. developmental deformity of cochlear aqueduct, 5. developmental deformity of internal acoustic meatus. Most cases showed malformations of vestibule or vestibular aqueducts.

  8. Beals Syndrome

    Science.gov (United States)

    ... the syndrome. How does Beals syndrome compare with Marfan syndrome? People with Beals syndrome have many of the ... bone) and aortic enlargement problems as people with Marfan syndrome, and treatments for these problems are the same. ...

  9. MR imaging of cerebrospinal fluid dynamics in health and disease. On the vascular pathogenesis of communicating hydrocephalus and benign intracranial hypertension

    International Nuclear Information System (INIS)

    Greitz, D.; Hannerz, J.; Raehn, T.; Bolander, H.; Ericsson, A.

    1994-01-01

    The CSF flows in the aqueduct and at the foramen magnum were examined in 5 patients with communicating hydrocephalus (HC) and in 10 with benign intracranial hypertension (BIH) as well as in 5 healthy volunteers. As compared to normal individuals, the aqueductal flow in HC was about 10 times larger and the cervical flow was half as large. In BIH the CSF flows were not different from those of normal volunteers. The decreased arterial expansion as reflected in the reduced cervical flow in HC may be due to pathologic changes in the arteries and paravascular spaces. The large aqueductal flow in HC reflects a large brain expansion, causing increased transcerebral mantle pressure gradient and ventricular dilatation. In BIH there is a normal brain expansion (aqueductal flow) and consequently no ventricular dilatation. It is argued that BIH be caused by an obstruction on the venous side, as opposed to the vascular alterations in HC, which are on the arterial side. (orig.)

  10. Serotonin syndrome

    Science.gov (United States)

    Hyperserotonemia; Serotonergic syndrome; Serotonin toxicity; SSRI - serotonin syndrome; MAO - serotonin syndrome ... brain area. For example, you can develop this syndrome if you take migraine medicines called triptans together ...

  11. [Association Budd Chiari syndrome, antiphospholipid syndrome and Grave's disease].

    Science.gov (United States)

    Mouelhi, Leila; Chaieb, Mouna; Debbeche, Radhouane; Salem, Mohamed; Sfar, Imene; Trabelsi, Sinda; Gorgi, Yosr; Najjar, Taoufik

    2009-02-01

    Antiphospholipid syndrome is revealed by Budd Chiari syndrome in 5% of the cases. Antiphospholipid syndrome is characterized by venous or arterial thrombosis, foetal loss and positivity of antiphospholipid antibodies, namely lupus anticoagulant, anticardiolipin antibodies and anti-beta2-glycoprotein I. Anticardiolipin antibodies was reported in auto-immune thyroid disorders, particularly in Grave's disease. Antiphospholipid syndrome associated to Grave's disease was reported in only three cases. To describe a case report of association of Grave's disease and antiphospholipid syndrome. We report the first case of Grave's disease associated with antiphospholipid syndrome, revealed by Budd Chiari syndrome. Our observation is particular by the fact that it is about a patient presenting a Grave's disease associated with antiphospholipid syndrome revealed by Budd Chiari syndrome. This triple association has never been reported in literature. Although association between antiphospholipid syndrome and Grave's disease was previously described, further studies evaluating the coexistence of these two affections in the same patient would be useful.

  12. Duane Syndrome

    Science.gov (United States)

    ... Frequently Asked Questions Español Condiciones Chinese Conditions Duane Syndrome En Español Read in Chinese What is Duane Syndrome? Duane syndrome, also called Duane retraction syndrome (DRS), ...

  13. Wells syndrome and its relationship to Churg-Strauss syndrome.

    Science.gov (United States)

    Ratzinger, Gudrun; Zankl, Julia; Zelger, Bernhard

    2013-08-01

      Wells syndrome has been described as an inflammatory disorder based on typical clinical appearance combined with the histopathological presence of eosinophilic infiltrates and flame figures in the absence of vasculitis. Churg-Strauss syndrome, on the other hand, is primarily a diffuse, necrotizing vasculitis but is also typically displaying eosinophils and flame figures. Despite several parallels, the present understanding of these two diseases excludes any pathogenetic relationship.   We describe the clinical course and histopathological appearance of three patients who had initially been diagnosed with Wells syndrome that developed into Churg-Strauss syndrome during the course of their disease.   The clinical presentation of all three patients led to the diagnosis of Wells syndrome by independent specialists. Histopathology showed an eosinophilic infiltrate and flame figures next to features of leukocytoclastic vasculitis. Detailed examination revealed asthma bronchiale and additional symptoms indicating Churg-Strauss syndrome. The initial diagnosis of Wells syndrome had to be revised to Churg-Strauss syndrome.   We conclude that Wells syndrome could be the starting point of a pathogenetic process that might reach its maximum in Churg-Strauss syndrome. As a clinical consequence, patients with Wells syndrome should be evaluated and followed for Churg-Strauss syndrome. © 2013 The International Society of Dermatology.

  14. Goldenhar Syndrome in Association with Duane Syndrome

    Directory of Open Access Journals (Sweden)

    U D Shrestha

    2012-03-01

    Full Text Available Goldenhar syndrome (GHS is also known as Oculo-Auriculo-Vertebral (OAV syndrome or Branchial arch syndrome. Duane retraction syndrome (DRS is a congenital disorder of ocular motility characterized by limited abduction, adduction or both. It is unilateral in 80% of cases. The important and interesting part of this eight months old child is presence of GHS with DRS. She has bilateral invol-vement, which is seen in only 5-8% of GHS, as compared to high incidence of unilateral involve-ment. This child also had refractive error of + 6.00/ - 1.5 * 180. At four year of age her vision with glass was 6/9. Children with GHS and DRS should have early eye examination done to treat the problem of refractive error. Keywords: Duane retraction syndrome; goldenhar syndrome, refractive error.

  15. NEUROCISTICERCOSIS CON LOCALIZACION EN ACUEDUCTO DE SILVIO: DESCRIPCION DE CASO Y REVISION DE LA LITERATURA.

    Directory of Open Access Journals (Sweden)

    Leonardo Dominguez de la Ossa

    2007-01-01

    Full Text Available Neurocysticercosis (NCC is the most common parasitic disease of the central nervous system. We report a patient with neurocysticercosis in Silvio aqueduct . A ventriculoperitoneal shunt was place and there were not surgical complications the surgical procedure is described and we analized the inusual localization in Silvio aqueduct

  16. Fanconi syndrome

    Science.gov (United States)

    De Toni-Fanconi syndrome ... Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown. Common causes of Fanconi syndrome in ...

  17. OCULO-CEREBRO-RENAL SYNDROME (LOWE'S SYNDROME)

    Institute of Scientific and Technical Information of China (English)

    1991-01-01

    Oculo-cerebro-renal syndrome (Lowe's syndrome) is characterized by mental and motor retardation, cataract, glaucoma and renal abnormalities. It is an X-linked recessive metabolic disease. Two brothers suffering from Lowe's syndrome are reported. Their mother with lenticular opacities and peculiar facial appearance is in concordance with the obligate carrier. The ocular changes and heridity are discussed.

  18. Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma.

    Directory of Open Access Journals (Sweden)

    Tullu M

    2000-04-01

    Full Text Available Neurofibromatosis (NF, Noonan syndrome (NS, and LEOPARD syndrome are all autosomal dominant conditions, each being a distinct clinical entity by itself. Rarely, one encounters cases with features of NF and NS and is termed as the ′Neurofibromatosis-Noonan syndrome′ (NF-NS. The authors report a clinical dilemma with major clinical features of the NF-NS syndrome and LEOPARD syndrome co-existing in the same patient. Also, features of Noonan syndrome and LEOPARD syndrome are compared with the case reported.

  19. LEOPARD syndrome is not linked to the Marfan syndrome and the Watson syndrome loci

    Energy Technology Data Exchange (ETDEWEB)

    Rass-Rothchild, A.: Abeliovitch, D.; Kornstein, A. [Tel Aviv Univ. (Israel)]|[Hebrew Univ., Jerusalem (Israel)

    1994-09-01

    The acronym LEOPARD stands for a syndromic association of Lentigines, Eletrocardiographic changes, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth and sensorineural Deafness. Inheritance is autosomal dominant with high penetrance and variable expressivity. In 1990 Torok et al. reported on the association of LEOPARD and Marfan syndrome. In addition a clinical similarity (cardiac and cutaneous involvement) exists with the Watson syndrome (neurofibromatosis and pulmonic stenosis) which is linked to the marker D17S33 on chromosome 17. We studied possible linkage of LEOPARD syndrome to the Marfan syndrome locus on chromosome 15 (D15S1, MF13, and (TAAAA)n repeats) and to the NF-1 locus on chromosome 17 in a family with 9 cases of LEOPARD syndrome. Close linkage between LEOPARD syndrome and both the Marfan locus on chromosome 15 and the NF-1 locus on chromosome 17 was excluded (lod score <-2.0 through {theta} = 0.1).

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

    Science.gov (United States)

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

    2014-06-01

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

  1. Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview

    NARCIS (Netherlands)

    de Maria, Beatrice; Mazzanti, Laura; Roche, Nathalie; Hennekam, Raoul C.

    2016-01-01

    Barber-Say syndrome (BSS) and Ablepharon-Macrostomia syndrome (AMS) are congenital malformation syndromes caused by heterozygous mutations in TWIST2. Here we provide a critical review of all patients published with these syndromes. We excluded several earlier reports due to misdiagnosis or

  2. Autosomal dominant syndrome resembling Coffin-Siris syndrome.

    Science.gov (United States)

    Flynn, Maureen A; Milunsky, Jeff M

    2006-06-15

    Coffin-Siris syndrome is a multiple congenital anomaly/mental retardation syndrome with phenotypic variability [OMIM 135900]. The diagnosis is based solely on clinical findings, as there is currently no molecular, biochemical, or cytogenetic analysis available to confirm a diagnosis. Although typically described as an autosomal recessive disorder, autosomal dominant inheritance has also been infrequently reported. We describe a mother and her two daughters who all have features that resemble Coffin-Siris syndrome. However, this is not a completely convincing diagnosis given that hypertelorism is not a feature of Coffin-Siris syndrome and the family is relatively mildly affected. Yet, this family provides further evidence of an autosomal dominant mode of inheritance for a likely variant of Coffin-Siris syndrome (at least in some families). In addition, Sibling 1 had premature thelarche. She is the second reported individual within the spectrum of Coffin-Siris syndrome to have premature thelarche, indicating that it may be a rare clinical feature. Copyright 2006 Wiley-Liss, Inc.

  3. West syndrome in a patient with Schinzel-Giedion syndrome.

    Science.gov (United States)

    Miyake, Fuyu; Kuroda, Yukiko; Naruto, Takuya; Ohashi, Ikuko; Takano, Kyoko; Kurosawa, Kenji

    2015-06-01

    Schinzel-Giedion syndrome is a rare recognizable malformation syndrome defined by characteristic facial features, profound developmental delay, severe growth failure, and multiple congenital anomalies. The causative gene of Schinzel-Giedion syndrome, SETBP1, has been identified, but limited cases have been confirmed by molecular analysis. We present a 9-month-old girl affected by West syndrome with Schinzel-Giedion syndrome. Congenital severe hydronephrosis, typical facial features, and multiple anomalies suggested a clinical diagnosis of Schinzel-Giedion syndrome. Hypsarrhythmia occurred at 7 months of age and was temporarily controlled by adrenocorticotropic hormone (ACTH) therapy during 5 weeks. SETBP1 mutational analysis showed the presence of a recurrent mutation, p.Ile871Thr. The implications in management of Schinzel-Giedion syndrome are discussed. © The Author(s) 2014.

  4. Genetic deletion of afadin causes hydrocephalus by destruction of adherens junctions in radial glial and ependymal cells in the midbrain.

    Directory of Open Access Journals (Sweden)

    Hideaki Yamamoto

    Full Text Available Adherens junctions (AJs play a role in mechanically connecting adjacent cells to maintain tissue structure, particularly in epithelial cells. The major cell-cell adhesion molecules at AJs are cadherins and nectins. Afadin binds to both nectins and α-catenin and recruits the cadherin-β-catenin complex to the nectin-based cell-cell adhesion site to form AJs. To explore the role of afadin in radial glial and ependymal cells in the brain, we generated mice carrying a nestin-Cre-mediated conditional knockout (cKO of the afadin gene. Newborn afadin-cKO mice developed hydrocephalus and died neonatally. The afadin-cKO brain displayed enlarged lateral ventricles and cerebral aqueduct, resulting from stenosis of the caudal end of the cerebral aqueduct and obliteration of the ventral part of the third ventricle. Afadin deficiency further caused the loss of ependymal cells from the ventricular and aqueductal surfaces. During development, radial glial cells, which terminally differentiate into ependymal cells, scattered from the ventricular zone and were replaced by neurons that eventually covered the ventricular and aqueductal surfaces of the afadin-cKO midbrain. Moreover, the denuded ependymal cells were only occasionally observed in the third ventricle and the cerebral aqueduct of the afadin-cKO midbrain. Afadin was co-localized with nectin-1 and N-cadherin at AJs of radial glial and ependymal cells in the control midbrain, but these proteins were not concentrated at AJs in the afadin-cKO midbrain. Thus, the defects in the afadin-cKO midbrain most likely resulted from the destruction of AJs, because AJs in the midbrain were already established before afadin was genetically deleted. These results indicate that afadin is essential for the maintenance of AJs in radial glial and ependymal cells in the midbrain and is required for normal morphogenesis of the cerebral aqueduct and ventral third ventricle in the midbrain.

  5. Clinical review of inner ear malformation

    International Nuclear Information System (INIS)

    Kokai, Hiromi; Oohashi, Masami; Ishikawa, Kazuo; Harada, Kouji; Hiratsuka, Hitoshi; Ogasawara, Makoto; Miyashita, Souji; Terayama, Yoshihiko

    2003-01-01

    We had 126 patients with inner ear malformation diagnosed with temporal bone computed tomography (CT) scans at Azabu Triology Hospital between 1996 and 2002. We classified cases of inner ear malformation according to Jackler et al. The incidence of inner ear malformation in our series was as follows; labyrinthine anomalies 61% (isolated lateral semicircular canal dysplasia 56%, compound semicircular canal dysplasia 4%, semicircular canal aplasia 1%), cochlear anomalies 24%, enlargement of the vestibular aqueduct 12%, narrow internal auditory canal 2%, complete labyrinthine aplasia 1%, enlargement of the cochlear aqueduct 0%. The most frequent anomaly was isolated lateral semicircular canal dysplasia. We did not detect any significant clinical features in this anomaly. There were 2 patients with cochlear anomalies who had past histories of meningitis. Some patients with enlargement of the vestibular aqueduct had frequent attacks of fluctuating hearing. Clinically it is important to detect patients with inner ear malformation such as cochlear anomalies and enlargement of the vestibular aqueduct usually accompanied by congenital sensorineural hearing loss. For patients with congenital sensorineural hearing loss, we recommend temporal bone CT scan. (author)

  6. Flowing cerebrospinal fluid in normal and hydrocephalic states: Appearance on MR images

    International Nuclear Information System (INIS)

    Bradley, W.G.; Kortman, K.E.; Burgoyne, B.; Eng, D.

    1986-01-01

    The signal intensity of the cerebrospinal fluid (CSF) in the cerebral aqueduct and lateral ventricles on magnetic resonance (MR) images was evaluated in 16 healthy individuals and in 32 patients with various forms of hydrocephalus (20 with chronic normal pressure hydrocephalus [NPH], seven with acute communicating hydrocephalus, and five with hydrocephalus ex vacuo [atrophy]). The low signal intensity frequently observed in the cerebral aqueduct is believed to reflect the pulsatile motion of CSF, which is related to the cardiac cycle. While this aqueductal flow void phenomenon can be observed in healthy individuals, it is most pronounced in patients with chronic, communicating NPH; is less evident in patients with acute, communicating hydrocephalus and is least evident in patients with atrophy. Ventricular compliance is known to be essentially normal in atrophy, mildly decreased in acute, communicating hydrocephalus; and severely decreased in NPH. The degree of aqueductal signal loss is believed to reflect the velocity of the pulsatile CSF motion, which in turn depends on the relative ventricular compliance and surface area

  7. Cushing syndrome

    Science.gov (United States)

    Hypercortisolism; Cortisol excess; Glucocorticoid excess - Cushing syndrome ... The most common cause of Cushing syndrome is taking too much ... Cushing syndrome . Prednisone, dexamethasone, and prednisolone ...

  8. Russell-Silver syndrome

    Science.gov (United States)

    Silver-Russell syndrome; Silver syndrome; RSS; Russell-Silver syndrome ... One in 10 children with this syndrome has a problem involving chromosome 7. In other people with the syndrome, it may affect chromosome 11. Most of the time, it ...

  9. [Cockett's syndrome, May-Thurner syndrome, or iliac vein compression syndrome].

    Science.gov (United States)

    Gil Martín, A R; Carreras Aja, M; Arrieta Ardieta, I; Labayen Azparren, I

    2014-01-01

    Iliac vein compression syndrome (also known as May-Thurner syndrome or Cockett's syndrome) is a rare clinical entity in which the left common iliac vein is compressed when it passes between the right common iliac artery and the spine. The sustained compression and trauma caused by the pulsatile force of the artery on the vein damage the intima and lead to the formation of membranes or bands in the vascular lumen that hinder or obstruct the flow of blood in the vein, favoring thrombus formation. The current treatment strategy of choice is endovascular vein patch angioplasty and stenting with the aim of improving the caliber of the lumen and enabling normal venous drainage. We present two cases of May-Thurner syndrome and review the clinical and CT findings. Copyright © 2011 SERAM. Published by Elsevier Espana. All rights reserved.

  10. LEOPARD syndrome

    Science.gov (United States)

    Multiple lentigines syndrome; Noonan syndrome with multiple lentigines ... Genetics Home Reference -- ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines National Organization for Rare Disorders -- ...

  11. [Cochlear implant in patients with congenital malformation of inner ear].

    Science.gov (United States)

    Han, Dong-yi; Wu, Wen-ming; Xi, Xin; Huang, De-liang; Yang, Wei-yan

    2004-02-01

    To study surgical difficulty and key of the cochlear implant in patients with congenital malformation of inner ear. The cochlear implantations were performed in our department from Jan. 2001 to Apr. 2003 for 18 patients with the malformation of inner ear. In this series, there were 11 cases of large vestibular aqueduct syndrome (LVAS), 3 cases of Waardenberg syndrome, 3 cases of Mondini malformation, and 1 case of Usher syndrome. All 18 patients accepted the Nucleus 24-channel cochlear implantations, including Nucleus straight electrode in 13 cases but Contour implantation in 5 cases of LVAS. During operations, leakage of perilymph but not cerebrospinal fluid (CSF) from the open of scala tympani occurred in 11 cases of LVAS, however, the electrode was inserted successfully. The abnormalities of round window occurred in one of 3 cases of Waardenberg syndrome and 3 cases of Mondini malformation, respectively. The cochlear implant could be conducted successfully for the LVAS, and the postoperative effect was same as the ones for the deafness persons with normal development of inner ear. However, for the patients with Mondini syndrome and common cavity, it is important to accurately assess the extent of abnormalities in the inner ear and accompanied malformation before operation, and to evaluate the full extent of difficulties of the operation in order to minimize the risk of CSF leakage and meningitis.

  12. Dravets syndrom

    DEFF Research Database (Denmark)

    Hansen, Lars Kjaersgård; Rasmussen, Niels Henrik; Ousager, Lilian Bomme

    2010-01-01

    Dravet syndrome is an epileptic syndrome of infancy and early childhood. Most cases of Dravet syndrome seem to be due to a genetic defect causing the sodium channel to malfunction. We describe the main features of the syndrome. This epilepsy is medically intractable, but we call attention...... to the fact that some medications are of benefit and some could exacerbate the condition. Early recognition of the syndrome including by genetic testing could possibly improve outcome and reduce the need for other specialized investigations. Udgivelsesdato: 2010-Feb-22...

  13. A Chinese patient with pusher syndrome and unilateral spatial neglect syndrome.

    Science.gov (United States)

    Chen, Xiao-Wei; Lin, Cheng-He; Zheng, Hua; Lin, Zhen-Lan

    2014-07-01

    To observe clinical manifestations, behavioral characteristics, and effects of rehabilitation on a patient with pusher syndrome and unilateral spatial neglect caused by right thalamic hemorrhage. Assessment of pusher syndrome was made by the Scale for Contraversive pushing (SCP), and unilateral spatial neglect syndrome was diagnosed using line cancellation, letter and star cancellation, line bisection tests and copy and continuation of graphic sequence test. Behavioral therapy, occupational therapy, reading training and traditional Chinese medicine methods were adopted for treatment of pusher syndrome and unilateral spatial neglect. The patient showed typical pusher syndrome and unilateral spatial neglect symptoms. The pusher syndrome and unilateral spatial neglect symptoms were significantly improved following rehabilitation treatments. Pusher syndrome and unilateral spatial neglect syndrome occurred simultaneously after right thalamic hemorrhage. Early rehabilitation therapy can reduce the symptoms of pusher syndrome and unilateral spatial neglect syndrome and improve motor function.

  14. Aarskog syndrome

    Science.gov (United States)

    Aarskog disease; Aarskog-Scott syndrome; AAS; Faciodigitogenital syndrome; Gaciogenital dysplasia ... Aarskog syndrome is a genetic disorder that is linked to the X chromosome. It affects mainly males, but females ...

  15. Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome).

    Science.gov (United States)

    Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

    2014-01-01

    Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

  16. Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome)

    OpenAIRE

    Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

    2014-01-01

    Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

  17. Cushing's Syndrome

    OpenAIRE

    宗, 友厚; 伊藤, 勇; 諏訪, 哲也; 武田, 純; MUNE, Tomoatsu

    2003-01-01

    Sixteen cases of verified Cushing's syndrome, and twelve cases of probable Cushing's syndrome were reviewed and data on them were compared with various reports on Cushing's syndrome in the literature.

  18. Polycystic ovary syndrome and metabolic syndrome.

    Science.gov (United States)

    Ali, Aus Tariq

    2015-08-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous disorder, where the main clinical features include menstrual irregularities, sub-fertility, hyperandrogenism, and hirsutism. The prevalence of PCOS depends on ethnicity, environmental and genetic factors, as well as the criteria used to define it. On the other hand, metabolic syndrome is a constellation of metabolic disorders which include mainly abdominal obesity, insulin resistance, impaired glucose metabolism, hypertension and dyslipidaemia. These associated disorders directly increase the risk of Type 2 diabetes mellitus (DMT2), coronary heart disease (CHD), cardiovascular diseases (CVD) and endometrial cancer. Many patients with PCOS have features of metabolic syndrome such as visceral obesity, hyperinsulinaemia and insulin resistance. These place patients with PCOS under high risk of developing cardiovascular disease (CVD), Type 2 diabetes (DMT2) and gynecological cancer, in particular, endometrial cancer. Metabolic syndrome is also increased in infertile women with PCOS. The aim of this review is to provide clear and up to date information about PCOS and its relationship with metabolic syndrome, and the possible interaction between different metabolic disorders.

  19. Intrinsic factors determining the physical behaviour and durability ofthe Miocene sandstones used to build the Zaghouan-Carthage aqueduct (Tunis

    Directory of Open Access Journals (Sweden)

    Zoghlami, K.

    2004-12-01

    Full Text Available The present paper addresses the relationship between the intrinsic factors, physical behaviour and durability of Miocene Age sandstone used to build Tunisian Heritage Monuments, and more specifically the Zaghouan-Carthage aqueduct. A petrography study (optical microscopy and mercury intrusion porosi metry was conducted to characterize the porous system of the rock. Stone hydric behaviour was also determined by finding vacuum saturation, desorption, capillary and water vapor transmission. Finally, mechanical strength (compressive strength, abrasion resistance and durability (via accelerated sodium sulfate crystallization ageing were also found. The results obtained were indicative of good hydric performance due to the macroporous nature of the stone and the connectivity of its porous system. This rock was also found to have very low mechanical strength due to its scant lithification, making it particularly susceptible to salt weathering. It was also observed to be highly resistant to chemical alteration, given the absence of chemically unstable minerals in its composition. The durability of the material was consequently found to depend directly on the presence or absence of salts in the monument.

    En este trabajo se estudia la relación entre los factores intrínsecos, el comportamiento físico y la alterabilidad de la arenisca miocénica utilizada en el Patrimonio Monumental de Túnez, en concreto, en el acueducto romano de Zaghouan-Cartago. A partir del estudio petrográfico detallado de la roca se ha caracterizado el sistema poroso mediante microscopía y porosimetría de mercurio. También se ha caracterizado su comportamiento hídrico (absorción al vacío, desorción, capilaridad, permeabilidad al vapor de agua, se ha determinado su comportamiento mecánico (resistencia a compresión, resistencia al desgaste por rozamiento y su durabilidad mediante ensayos acelerados de cristalización de sales (sulfato de sodio. Los resultados

  20. Tourette syndrome

    Science.gov (United States)

    Gilles de la Tourette syndrome; Tic disorders - Tourette syndrome ... Tourette syndrome is named for Georges Gilles de la Tourette, who first described this disorder in 1885. The disorder is likely passed down through families. ...

  1. Metabolic syndrome in acute coronary syndrome

    International Nuclear Information System (INIS)

    Bhalli, M.A.; Aamir, M.; Mustafa, G.

    2011-01-01

    Objective: To determine the frequency of metabolic syndrome in male patients presenting with acute coronary syndrome Study design: A Descriptive study Place and duration of study: Armed Forces Institute of Cardiology and National Institute of Heart Diseases, Rawalpindi, from October 2007 to September 2008 Patients and Methods: Male patients with acute coronary syndrome (ACS) were included. Patients having angioplasty (PCI), coronary artery bypass surgery in the past and other co-morbid diseases were excluded. All patients were assessed for the presence of five components of metabolic syndrome including hypertension, HDL-Cholesterol and triglycerides, glucose intolerance and abdominal obesity. Systolic, diastolic blood pressures, waist circumference (WC) and body mass index (BMI) were measured. ECG, cardiac enzymes, fasting glucose and lipid profile were also done. Results: A total of 135 male patients of ACS were studied with a mean age of 54.26 +- 11 years. Metabolic syndrome (MS) was present in 55 (40.7%) patients. MS with all five components was documented in 4 (7.27%) while MS with four and three components was seen in 23 (41.81%) and 28 (50.90%) patients respectively. Only 24 (43.63%) patients with MS had diabetes mellitus, remaining 31(56.36%) were non diabetic. Frequencies of diabetes, hypertension and family history of CAD were significantly higher (p<0.05) in patients with metabolic syndrome as compared to patients with normal metabolic status. Conclusion: Metabolic syndrome is fairly common and important risk factor in patients of IHD. Other risk factors like smoking, dyslipidemia, hypertension and diabetes were also frequently found. Public awareness to control the risk factors can reduce the prevalence of CAD in our country. (author)

  2. Metabolic syndrome in acute coronary syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Bhalli, M A; Aamir, M; Mustafa, G [Combined Military Hospital, Abbottabad (Pakistan)

    2011-06-15

    Objective: To determine the frequency of metabolic syndrome in male patients presenting with acute coronary syndrome Study design: A Descriptive study Place and duration of study: Armed Forces Institute of Cardiology and National Institute of Heart Diseases, Rawalpindi, from October 2007 to September 2008 Patients and Methods: Male patients with acute coronary syndrome (ACS) were included. Patients having angioplasty (PCI), coronary artery bypass surgery in the past and other co-morbid diseases were excluded. All patients were assessed for the presence of five components of metabolic syndrome including hypertension, HDL-Cholesterol and triglycerides, glucose intolerance and abdominal obesity. Systolic, diastolic blood pressures, waist circumference (WC) and body mass index (BMI) were measured. ECG, cardiac enzymes, fasting glucose and lipid profile were also done. Results: A total of 135 male patients of ACS were studied with a mean age of 54.26 +- 11 years. Metabolic syndrome (MS) was present in 55 (40.7%) patients. MS with all five components was documented in 4 (7.27%) while MS with four and three components was seen in 23 (41.81%) and 28 (50.90%) patients respectively. Only 24 (43.63%) patients with MS had diabetes mellitus, remaining 31(56.36%) were non diabetic. Frequencies of diabetes, hypertension and family history of CAD were significantly higher (p<0.05) in patients with metabolic syndrome as compared to patients with normal metabolic status. Conclusion: Metabolic syndrome is fairly common and important risk factor in patients of IHD. Other risk factors like smoking, dyslipidemia, hypertension and diabetes were also frequently found. Public awareness to control the risk factors can reduce the prevalence of CAD in our country. (author)

  3. Exogenous Cushing syndrome

    Science.gov (United States)

    Cushing syndrome - corticosteroid induced; Corticosteroid-induced Cushing syndrome; Iatrogenic Cushing syndrome ... Cushing syndrome is a disorder that occurs when your body has a higher than normal level of the hormone ...

  4. Targets to treat metabolic syndrome in polycystic ovary syndrome.

    Science.gov (United States)

    Mahalingaiah, Shruthi; Diamanti-Kandarakis, Evanthia

    2015-01-01

    Metabolic syndrome is comprised of a combination of the following states: increased insulin resistance, dyslipidemia, cardiovascular disease, and increased abdominal obesity. Women with polycystic ovary syndrome (PCOS) have an increased risk of developing metabolic syndrome over the course of their lives. Metabolic syndrome increases risk of major cardiovascular events, morbidity, quality of life, and overall health care costs. Though metabolic syndrome in women with PCOS is an area of great concern, there is no effective individual medical therapeutic to adequately treat this issue. This article will review key aspects of metabolic syndrome in PCOS. We will discuss classic and novel therapeutics to address metabolic syndrome in women with PCOS. We will conclude with the importance of developing strategic interventions to increase the compliance to lifestyle and dietary modification, in addition to appreciation of the emerging pharmaceutical therapeutics available. Innovation in lifestyle modification, including diet, exercise, with and without dedicated stress reduction techniques is the future in treatment of metabolic syndrome in PCOS. Application of novel interventions, such as group medical care, may improve future adherence to lifestyle modification recommendations, in addition to or in combination with pharmaceutical therapeutics.

  5. Targets to treat metabolic syndrome in polycystic ovary syndrome

    Science.gov (United States)

    Mahalingaiah, Shruthi; Diamanti-Kandarakis, Evanthia

    2016-01-01

    Introduction Metabolic syndrome is comprised of a combination of the following states: increased insulin resistance, dyslipidemia, cardiovascular disease, and increased abdominal obesity. Women with polycystic ovary syndrome (PCOS) have an increased risk of developing metabolic syndrome over the course of their lives. Metabolic syndrome increases risk of major cardiovascular events, morbidity, quality of life, and overall health care costs. Though metabolic syndrome in women with PCOS is an area of great concern, there is no effective individual medical therapeutic to adequately treat this issue. Areas Covered This article will review key aspects of metabolic syndrome in PCOS. We will discuss classic and novel therapeutics to address metabolic syndrome in women with PCOS. We will conclude with the importance of developing strategic interventions to increase the compliance to lifestyle and dietary modification, in addition to appreciation of the emerging pharmaceutical therapeutics available. Expert Opinion Innovation in lifestyle modification, including diet, exercise, with and without dedicated stress reduction techniques is the future in treatment of metabolic syndrome in PCOS. Application of novel interventions, such as group medical care, may improve future adherence to lifestyle modification recommendations, in addition to or in combination with pharmaceutical therapeutics. PMID:26488852

  6. 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.

  7. Milk-alkali syndrome

    Science.gov (United States)

    Calcium-alkali syndrome; Cope syndrome; Burnett syndrome; Hypercalcemia; Calcium metabolism disorder ... Milk-alkali syndrome is almost always caused by taking too many calcium supplements, usually in the form of calcium carbonate. Calcium ...

  8. Marfan Syndrome

    Science.gov (United States)

    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, ... A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, and ...

  9. Brief Report: Repetitive Behaviour Profiles in Williams Syndrome: Cross Syndrome Comparisons with Prader-Willi and Down Syndromes

    Science.gov (United States)

    Royston, R.; Oliver, C.; Moss, J.; Adams, D.; Berg, K.; Burbidge, C.; Howlin, P.; Nelson, L.; Stinton, C.; Waite, J.

    2018-01-01

    This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader-Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader-Willi (n = 103) and Down (n = 78) syndromes. There were…

  10. Loeys-Dietz Syndrome

    Science.gov (United States)

    ... to the signs and symptoms of Loeys-Dietz syndrome. Marfan syndrome is different from Loeys-Dietz syndrome in that the gene mutation which causes Marfan syndrome is in fibrillin-1 (FBN-1), a protein ...

  11. Pre-Menstrual Syndrome in Women with Down Syndrome

    Science.gov (United States)

    Mason, Linda; Cunningham, Cliff

    2009-01-01

    Background: Prevalence of pre-menstrual syndrome (PMS) may be higher in women with Down syndrome due to syndrome specific characteristics in biochemistry, psychopathology and lifestyle. Recognition of PMS may be difficult for women with intellectual disabilities and their carers. Method: A daily diary, used to diagnose PMS with typical women, was…

  12. Williams syndrome

    Science.gov (United States)

    Williams-Beuren syndrome ... Williams syndrome is caused by not having a copy of several genes. It may be passed down in families. ... history of the condition. However, people with Williams syndrome have a 50% chance of passing the disorder ...

  13. Coexistence of Reverse Capgras Syndrome, Subjective Double and Cotard Syndrome

    Directory of Open Access Journals (Sweden)

    Azadeh Mashayekhi

    2016-01-01

    Full Text Available Misidentification syndrome is a condition in which the person thinks that familiar persons have been replaced with other one. Coexistence of some types of this syndrome has been reported with other psychiatric syndromes. In this report, we present a 47-year-old married man with coexistence of reverse Capgras and subjective double syndromes with Cotard syndrome. There is no previous report of coexistence of these three forms of delusions in a single case.

  14. Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome).

    Science.gov (United States)

    Bresler, Scott C; Padwa, Bonnie L; Granter, Scott R

    2016-06-01

    Nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome (Gorlin syndrome), is a rare autosomal dominantly inherited disorder that is characterized by development of basal cell carcinomas from a young age. Other distinguishing clinical features are seen in a majority of patients, and include keratocystic odontogenic tumors (formerly odontogenic keratocysts) as well as dyskeratotic palmar and plantar pitting. A range of skeletal and other developmental abnormalities are also often seen. The disorder is caused by defects in hedgehog signaling which result in constitutive pathway activity and tumor cell proliferation. As sporadic basal cell carcinomas also commonly harbor hedgehog pathway aberrations, therapeutic agents targeting key signaling constituents have been developed and tested against advanced sporadically occurring tumors or syndromic disease, leading in 2013 to FDA approval of the first hedgehog pathway-targeted small molecule, vismodegib. The elucidation of the molecular pathogenesis of nevoid basal cell carcinoma syndrome has resulted in further understanding of the most common human malignancy.

  15. Aicardi Syndrome

    Science.gov (United States)

    ... from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.) × Definition Aicardi syndrome is a rare genetic ... from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.) View Full Definition Treatment There is no ...

  16. Fournier gangrene associated with hyper IgE syndrome (Job syndrome).

    Science.gov (United States)

    Hori, Junichi; Yamaguchi, Satoshi; Watanabe, Masaki; Osanai, Hiroaki; Hori, Masako

    2008-04-01

    We report a case of a 32-year-old man with hyper IgE syndrome (Job syndrome) who developed Fournier gangrene due to infectious multiple atheromas of the scrotal skin that progressed to the right groin and thigh. The patient required surgical debridement and subsequent skin grafting. This is a rare case of Fournier gangrene associated with hyper IgE syndrome (Job syndrome). When a patient without diabetes mellitus has repeated infections and atopic-like dermatitis, Job syndrome should be considered.

  17. Down Syndrome

    Science.gov (United States)

    ... Down syndrome increases as a woman gets older. Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include ... occupational, and/or educational therapy. With support and treatment, many ... Down syndrome live happy, productive lives. NIH: National Institute of ...

  18. TAFRO Syndrome.

    Science.gov (United States)

    Igawa, Takuro; Sato, Yasuharu

    2018-02-01

    TAFRO syndrome is a newly recognized variant of idiopathic multicentric Castleman disease (iMCD) that involves a constellation of syndromes: thrombocytopenia (T), anasarca (A), fever (F), reticulin fibrosis (R), and organomegaly (O). Thrombocytopenia and severe anasarca accompanied by relatively low serum immunoglobulin levels are characteristic clinical findings of TAFRO syndrome that are not present in iMCD-not otherwise specified (iMCD-NOS). Lymph node biopsy is recommended to exclude other diseases and to diagnose TAFRO syndrome, which reveals characteristic histopathological findings similar to hyaline vascular-type CD. TAFRO syndrome follows a more aggressive course, compared with iMCD-NOS, and there is no standard treatment. Copyright © 2017 Elsevier Inc. All rights reserved.

  19. Development and characteristics of children with Usher syndrome and CHARGE syndrome.

    Science.gov (United States)

    Dammeyer, Jesper

    2012-09-01

    Individuals with Usher syndrome or CHARGE syndrome are faced with a number of difficulties concerning hearing, vision, balance, and language development. The aim of the study is to describe the developmental characteristics of children with Usher syndrome and CHARGE syndrome, respectively. Data about the developmental characteristics of 26 children with Usher syndrome and 17 children with CHARGE syndrome was obtained. Associations between deafblindness (dual sensory loss), motor development (age of walking), language abilities, and intellectual outcome of these children were explored for each group independently. Both groups of children face a number of difficulties associated with vision, hearing, language, balance and intellectual outcome. Intellectual disability and/or language delay was found among 42% of the children with Usher syndrome and among 82% of the children with CHARGE syndrome. Intellectual disability was associated with language delay and age of walking for both groups. Even though Usher and CHARGE are two different genetic syndromes, both groups are challenged with a number of similar developmental delays. Clinicians need to be aware of several developmental issues in order to offer adequate support to children with Usher or CHARGE syndrome. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  20. Pregnancy outcome in joint hypermobility syndrome and Ehlers-Danlos syndrome.

    Science.gov (United States)

    Sundelin, Heléne E K; Stephansson, Olof; Johansson, Kari; Ludvigsson, Jonas F

    2017-01-01

    An increased risk of preterm birth in women with joint hypermobility syndrome or Ehlers-Danlos syndrome is suspected. In this nationwide cohort study from 1997 through 2011, women with either joint hypermobility syndrome or Ehlers-Danlos syndrome or both disorders were identified through the Swedish Patient Register, and linked to the Medical Birth Register. Thereby, 314 singleton births to women with joint hypermobility syndrome/Ehlers-Danlos syndrome before delivery were identified. These births were compared with 1 247 864 singleton births to women without a diagnosis of joint hypermobility syndrome/Ehlers-Danlos syndrome. We used logistic regression, adjusted for maternal age, smoking, parity, and year of birth, to calculate adjusted odds ratios for adverse pregnancy outcomes. Maternal joint hypermobility syndrome/Ehlers-Danlos syndrome was not associated with any of our outcomes: preterm birth (adjusted odds ratio = 0.6, 95% confidence interval 0.3-1.2), preterm premature rupture of membranes (adjusted odds ratio = 0.8; 95% confidence interval 0.3-2.2), cesarean section (adjusted odds ratio = 0.9, 95% confidence interval 0.7-1.2), stillbirth (adjusted odds ratio = 1.1, 95% confidence interval 0.2-7.9), low Apgar score (adjusted odds ratio = 1.6, 95% confidence interval 0.7-3.6), small for gestational age (adjusted odds ratio = 0.9, 95% confidence interval 0.4-1.8) or large for gestational age (adjusted odds ratio = 1.2, 95% confidence interval 0.6-2.1). Examining only women with Ehlers-Danlos syndrome (n = 62), we found a higher risk of induction of labor (adjusted odds ratio = 2.6; 95% confidence interval 1.4-4.6) and amniotomy (adjusted odds ratio = 3.8; 95% confidence interval 2.0-7.1). No excess risks for adverse pregnancy outcome were seen in joint hypermobility syndrome. Women with joint hypermobility syndrome/Ehlers-Danlos syndrome do not seem to be at increased risk of adverse pregnancy outcome. © 2016 Nordic Federation of

  1. Wolf-Hirschhorn (4p-) syndrome with West syndrome.

    Science.gov (United States)

    Motoi, Hirotaka; Okanishi, Tohru; Kanai, Sotaro; Yokota, Takuya; Yamazoe, Tomohiro; Nishimura, Mitsuyo; Fujimoto, Ayataka; Yamamoto, Takamichi; Enoki, Hideo

    2016-01-01

    Wolf-Hirschhorn syndrome (WHS) is a chromosome disorder (4p-syndrome) which is characterized by craniofacial features and epileptic seizures. Here, we report a case of WHS with West syndrome, in whom the seizures were refractory to several antiepileptic drugs but were responsive to the addition of lamotrigine. The patient had epileptic spasms at age seven months. The interictal electroencephalogram was hypsarrhythmic. After adding lamotrigine, seizures decreased remarkably, and spasms disappeared. We have identified and described the very rare case of a girl with WHS who also developed West syndrome. In this case, adding lamotrigine to her medications effectively treated the spasms.

  2. Rowell syndrome

    Directory of Open Access Journals (Sweden)

    Ramesh Y Bhat

    2014-01-01

    Full Text Available Rowell syndrome is a rare disease consisting of erythema multiforme-like lesions associated with lupus erythematosus. The syndrome occurs mostly in middle-aged women. The authors describe the syndrome in a 15-year-old boy who responded well to systemic steroids and hydroxychloroquine.

  3. [Poland's syndrome].

    Science.gov (United States)

    Slezak, R; Sasiadek, M

    2000-08-01

    Poland's syndrome consists of the variable clinical features, but always includes unilateral aplasia of the chest wall muscles and ipsilateral anomalies of upper extremity. The incidence of Poland's syndrome, reported by different authors ranges from 1:10,000 to 1:100,000 and is observed more frequently in males than in females with the right side of the body affected more often than the left. The etiology of this syndrome is still discussed. However most of described cases were sporadic, rare familial incidence of Poland's syndrome were also presented. Therefore different etiologic factors of the Poland's syndrome are taken into account: genetic, vascular compromise during early stages of embriogenesis but also teratogenic effect of environmental xenobiotics (e.g. cigarette smoking by pregnant women). The authors present also the case of 20-years old man with inherited bilateral syndactyly with the right side aplasia of major pectoralis muscle and face asymmetry. The familial history was negative in respect to the features, associated with Poland's syndrome.

  4. [Gardner syndrome--parent alienation syndrome (PAS). Diagnosis or family reality?].

    Science.gov (United States)

    Namysłowska, Irena; Heitzman, Janusz; Siewierska, Anna

    2009-01-01

    The authors present characteristics of Parental Alienation Syndrome (PAS) proposed by Gardner as well as data, which may help to differentiate that syndrome with real psychological, physical and sexual abuse. The consequences of Gardner Syndrome for legal decisions in the court cases of child custody and the critique of this syndrome in forensic and psychiatric literature are also discussed, and several questions posed. Authors propose to treat Gardner Syndrome not as as a child disorder but as a specific, dynamic family situation, which occurs sometimes, during divorce and fight about child custody.

  5. Burning Mouth Syndrome and "Burning Mouth Syndrome".

    Science.gov (United States)

    Rifkind, Jacob Bernard

    2016-03-01

    Burning mouth syndrome is distressing to both the patient and practitioner unable to determine the cause of the patient's symptoms. Burning mouth syndrome is a diagnosis of exclusion, which is used only after nutritional deficiencies, mucosal disease, fungal infections, hormonal disturbances and contact stomatitis have been ruled out. This article will explore the many causes and treatment of patients who present with a chief complaint of "my mouth burns," including symptomatic treatment for those with burning mouth syndrome.

  6. Marfan Syndrome (For Teens)

    Science.gov (United States)

    ... genetic disorder called Marfan syndrome. What Is Marfan Syndrome? Marfan syndrome is named after Antoine Marfan, the French ... immediately. What's Life Like for Teens With Marfan Syndrome? Marfan syndrome affects people differently, so life is not ...

  7. Learning about Marfan Syndrome

    Science.gov (United States)

    ... Additional Resources for Marfan Syndrome What is Marfan syndrome? Marfan syndrome is one of the most common inherited ... FAQ Top of page Additional Resources For Marfan Syndrome Marfan syndrome [nlm.nih.gov] From Medline Plus Marfan ...

  8. Divorce in families of children with Down Syndrome or Rett Syndrome.

    Science.gov (United States)

    Lederman, Vivian Renne Gerber; Alves, Bianca dos Santos; Negrão, Juliana; Maria, Juliana Negrão; Schwartzman, José Salomão; D'Antino, Maria Eloisa Famá; Brunoni, Decio

    2015-05-01

    This study evaluates the impact in the stability and management of the marriage of parents of a child with Down or Rett Syndrome. Morbidity of the syndromes and the marital status of the couples before and after the birth of the affected children were considered variables. The divorce rate in families with Down syndrome was 10%, similar to the Brazilian rate population. In Rett Syndrome, the divorce rate was significantly higher, 23.5%. The higher morbidity of Rett Syndrome, and the moment of diagnosis could be relevant factors for the increased divorce rate related to this syndrome.

  9. The sick-building syndrome; Das Sick-Building-Syndrom

    Energy Technology Data Exchange (ETDEWEB)

    Henne, A.; Neumann, H.F.; Winneke, G.

    1992-12-31

    The sick-building syndrome is characterized by the presence of general, non-specific symptoms (e.g., headache, tiredness, respiratory problems, eye trouble, vertigo, nausea, unspecific hypersensitivity) in association with a particular indoor ambience. It is clearly distinguishable from `building-related illness`, referring to a well-defined clinical syndrome due to staying in a building and for which a cause can, in general, be established. Disorders in the case of the sick-building syndrome are manifold and confirmed objectifiable results are hardly available so far. Yet there are some organ-related methods for the confirmation of findings concerning, for instance, the eyes, the skin and the area of the nose. The causes of the incidence of sick-building syndrome are more or less unclear. It is a multifactorial phenomenon involving physical, biological, chemical, individual-specific and psychological factors. Buildings where sick-building syndrome occurs typically exhibit certain properties. The European Community has already made proposals for the investigation of incriminated buildings. A systematic survey by questionnaire together with individual interviews plays an import part towards clarifying the syndrome. (orig./UWA) [Deutsch] Das Sick-Building-Syndrom beschreibt das Vorhandensein von allgemeinen, nicht spezifischen Symptomen (z.B. Kopfschmerzen, Muedigkeit, Atembeschwerden, Augenreizungen, Schwindelgefuehl, Uebelkeit, unspezifische Ueberempfindlichkeit), assoziiert mit einer besonderen Innenraumumgebung. Deutlich hiervon abzugrenzen ist die ``Building related illness``, bei der ein klinisch definiertes Krankheitsbild vorliegt, das durch den Aufenthalt im Gebaeude verursacht wird und fuer das im allgemeinen eine Ursache ermittelt werden kann. Das Beschwerdebild beim Sick-Building-Syndrom ist vielfaeltig, und gesicherte, objektivierbare Befunde liegen hierzu bisher kaum vor. Dennoch gibt es einige organbezogenen Methoden zur Befundabsicherung, z.B. fuer das

  10. Hypokalaemia: Bartter's syndrome or pseudo-Bartter's syndrome?

    OpenAIRE

    Robb, J D; Delargy, M A; Nolan, M; Tomkin, G H

    1984-01-01

    The difficulties in the diagnosis of hypokalaemia are often considerable. This paper reports three patients who presented with hypokalaemia. Investigations are described which may help to distinguish Bartter's syndrome from pseudo-Bartter's syndrome.

  11. Syndromes with supernumerary teeth.

    Science.gov (United States)

    Lubinsky, Mark; Kantaputra, Piranit Nik

    2016-10-01

    While most supernumerary teeth are idiopathic, they can be associated with a number of Mendelian syndromes. However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. We excluded conditions with a single affected patient reported, supernumerary teeth adjacent to clefts or other forms of alveolar disruption (as secondary rather than primary findings), and natal teeth, which can involve premature eruption of a normal tooth. Since, the cause of supernumerary teeth shows considerable heterogeneity, certain findings are less likely to be coincidental, such as five or more supernumerary teeth in a single patient, or locations outside of the premaxilla. We found only eight genetic syndromes with strong evidence for an association: cleidocranial dysplasia; familial adenomatous polyposis; trichorhinophalangeal syndrome, type I; Rubinstein-Taybi syndrome; Nance-Horan syndrome; Opitz BBB/G syndrome; oculofaciocardiodental syndrome; and autosomal dominant Robinow syndrome. There is also suggestive evidence of an association with two uncommon disorders, Kreiborg-Pakistani syndrome (craniosynostosis and dental anomalies), and insulin-resistant diabetes mellitus with acanthosisnigricans. An association of a Mendelian disorder with a low frequency manifestation of supernumerary teeth is difficult to exclude without large numbers, but several commonly cited syndromes lacked evidence for clear association, including Hallermann-Streiff syndrome, Fabry disease, Ehlers-Danlos syndrome, Apert and Crouzon syndromes, Zimmermann-Laband syndrome, and Ellis-van Creveld syndrome. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  12. What Is Usher Syndrome?

    Science.gov (United States)

    ... Action You are here Home › Retinal Diseases Listen Usher Syndrome What is Usher syndrome? How is Usher syndrome ... available? Are there any related diseases? What is Usher Syndrome? Usher syndrome is an inherited condition characterized by ...

  13. Autoimmune/inflammatory syndrome induced by adjuvants (Shoenfeld's syndrome) - An update.

    Science.gov (United States)

    Watad, A; Quaresma, M; Brown, S; Cohen Tervaert, J W; Rodríguez-Pint, I; Cervera, R; Perricone, C; Shoenfeld, Y

    2017-06-01

    Autoimmune/inflammatory syndrome induced by adjuvants (ASIA) has been widely described in many studies conducted thus far. The syndrome incorporates five immune-mediated conditions, all associated with previous exposure to various agents such as vaccines, silicone implants and several others. The emergence of ASIA syndrome is associated with individual genetic predisposition, for instance those carrying HLA-DRB1*01 or HLA-DRB4 and results from exposure to external or endogenous factors triggering autoimmunity. Such factors have been demonstrated as able to induce autoimmunity in both animal models and humans via a variety of proposed mechanisms. In recent years, physicians have become more aware of the existence of ASIA syndrome and the relationship between adjuvants exposure and autoimmunity and more cases are being reported. Accordingly, we have created a registry that includes at present more than 300 ASIA syndrome cases that have been reported by different physicians worldwide, describing various autoimmune conditions induced by diverse adjuvants. In this review, we have summarized the updated literature on ASIA syndrome and the knowledge accumulated since 2013 in order to elucidate the association between the exposure to various adjuvant agents and its possible clinical manifestations. Furthermore, we especially referred to the relationship between ASIA syndrome and systemic lupus erythematosus (SLE) and antiphospholipid syndrome (APS).

  14. Toxic shock syndrome

    Science.gov (United States)

    Staphylococcal toxic shock syndrome; Toxic shock-like syndrome; TSLS ... Toxic shock syndrome is caused by a toxin produced by some types of staphylococcus bacteria. A similar problem, called toxic shock- ...

  15. Eosinophilic leukocytoclastic vasculitis - a spectrum ranging from Wells' syndrome to Churg-Strauss syndrome?

    Science.gov (United States)

    Ratzinger, Gudrun; Zankl, Julia; Eisendle, Klaus; Zelger, Bernhard

    2014-01-01

    Wells' syndrome is defined as an inflammatory disorder with the histopathological presence of eosinophilic infiltrates and flame figures in the absence of vasculitis. Eosinophilic leukocytoclastic vasculitis shows eosinophilic infiltrates in combination with vasculitic changes. And Churg Strauss Syndrome comprises all three characteristics - eosinophilic infiltrates, vasculitis and flame figures. To determine whether these three diseases are distinct entities or different manifestations of a similar clinicopathologic process. Histopathological samples and clinical courses of 17 patients with eosinophilic infiltrates, flame figures and clinical features of Wells' syndrome were re-evaluated. Histopathologically, we focused on the presence or absence of vasculitic features. Clinically, we included only patients who were diagnosed with Wells' syndrome at least once in the course of their disease. 4 patients were finally diagnosed with Wells' syndrome, 5 with eosinophilic leukocytoclastic vasculitis and 6 with Churg Strauss syndrome. Further, we had one case of an overlap between Wells' syndrome and eosinophilic vasculitis and one case of Wegener granulomatosis. Vasculitic features were found in the samples of all patients. Histologically, we find vasculitic features in typical presentations of Wells' syndrome. Clinically, we find typical features of Wells' syndrome in patients finally diagnosed with eosinophilic leukocytoclastic vasculitis or Churg Strauss syndrome. Furthermore, we have observed and formerly reported 3 patients with progression from Wells' syndrome to Churg Strauss syndrome. Thus, we assume that eosinophilic leukocytoclastic vasculitis might form a bridge between Wells' syndrome and Churg Strauss syndrome.

  16. Management of moyamoya syndrome in patients with Noonan syndrome.

    Science.gov (United States)

    Gupta, Mihir; Choudhri, Omar A; Feroze, Abdullah H; Do, Huy M; Grant, Gerald A; Steinberg, Gary K

    2016-06-01

    A few isolated reports have described an association between Noonan syndrome and cerebrovascular abnormalities, including moyamoya syndrome. These reports have been limited to pediatric patients presenting with recurrent transient ischemic attacks (TIA) or headaches. Management has primarily been pharmacologic, with only one prior report of surgical revascularization to our knowledge. We report four cases of Noonan syndrome patients presenting with headaches and/or sensorimotor strokes in childhood that caused unilateral sensorimotor impairment. Cerebral angiography and MRI revealed bilateral moyamoya syndrome. All patients underwent successful bilateral extracranial-to-intracranial revascularization. The first patient was a 10-year-old girl who presented following a hemorrhagic stroke and recovered well after indirect bypass. The second patient was an adult with a history of childhood stroke whose symptoms progressed in adulthood. She underwent a direct bypass and improved, but continued to experience TIA at her 4 year follow-up. The third patient was a 7-year-old girl with headaches and a new onset TIA who failed pharmacological therapy and subsequently underwent bilateral indirect bypass. The fourth patient was a 24-year-old woman with worsening headaches and an occluded left middle cerebral artery from unilateral moyamoya syndrome. A left sided direct bypass was completed given delayed MRI perfusion with poor augmentation. To our knowledge these are the first reported surgical cases of combined Noonan and moyamoya syndrome. These cases highlight the need to recognize moyamoya syndrome in patients with Noonan syndrome. Early surgical revascularization should be pursued in order to prevent symptom progression. Copyright © 2015 Elsevier Ltd. All rights reserved.

  17. Obstructive sleep apnoea/hypopnoea syndrome in adults with Down syndrome

    OpenAIRE

    Hill, Elizabeth A.

    2016-01-01

    Key points Adults with Down syndrome are predisposed to obstructive sleep apnoea/hypopnoea syndrome (OSAHS) due to overlap between the Down syndrome phenotype and OSAHS risk factors. The prevalence of OSAHS in adults with Down syndrome is estimated at 35?42%. This is up to ten-times higher than in the general adult population. Symptoms of OSAHS, including behavioural and emotional disturbances as well as standard symptoms such as sleepiness, should be monitored as part of regular health surve...

  18. What is Metabolic Syndrome?

    Science.gov (United States)

    ... Intramural Research Home / Metabolic Syndrome Metabolic Syndrome Also known as What Is Metabolic syndrome ... metabolic risk factors to be diagnosed with metabolic syndrome. Metabolic Risk Factors A Large Waistline Having a large ...

  19. Prune belly syndrome

    Science.gov (United States)

    Eagle-Barrett syndrome; Triad syndrome ... The exact causes of prune belly syndrome are unknown. The condition affects mostly boys. While in the womb, the developing baby's abdomen swells with fluid. Often, the cause is ...

  20. Gorlin-goltz syndrome

    Directory of Open Access Journals (Sweden)

    B V Shobha

    2011-01-01

    Full Text Available Gorlin-Goltz syndrome also known as nevoid basal cell carcinoma syndrome (NBCCS is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by keratocystic odontogenic tumors (KCOT in the jaw, multiple basal cell carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic examination in the first decade of life, as KCOTs are usually one of the first manifestations of the NBCCS syndrome. This article reports the case of a 12-year-old girl with Gorlin-Goltz syndrome, emphasizing its clinical and radiographic manifestation. This study highlights the importance of health professionals in the early diagnosis of this syndrome and a multidisciplinary approach to provide a better diagnosis and prognosis.

  1. Refeeding syndrome

    OpenAIRE

    Tripathy, Swagata; Mishra, Padmini; Dash, S. C.

    2008-01-01

    Refeeding syndrome is a potentially fatal medical condition that may affect malnourished patients in response to an inappropriately rapid overfeeding. This commonly occurs following the institution of nutritional support, especially parenteral or enteral nutrition. The most characteristic pathophysiology of refeeding syndrome relates to the rapid consumption of phosphate after glucose intake and subsequent hypophosphatemia. Refeeding syndrome can manifest as either metabolic changes (hypokala...

  2. Three-Dimensional Constructive Interference in Steady State Sequences and Phase-Contrast Magnetic Resonance Imaging of Arrested Hydrocephalus.

    Science.gov (United States)

    Elkafrawy, Fatma; Reda, Ihab; Elsirafy, Mohamed; Gawad, Mohamed Saied Abdel; Elnaggar, Alaa; Khalek Abdel Razek, Ahmed Abdel

    2017-02-01

    To evaluate the role of three-dimensional constructive interference in steady state (3D-CISS) sequences and phase-contrast magnetic resonance imaging (PC-MRI) in patients with arrested hydrocephalus. A prospective study of 20 patients with arrested hydrocephalus was carried out. All patients underwent PC-MRI and 3D-CISS for assessment of the aqueduct. Axial (through-plane), sagittal (in-plane) PC-MRI, and sagittal 3D-CISS were applied to assess the cerebral aqueduct and the spontaneous third ventriculostomy if present. Aqueductal patency was graded using 3D-CISS and PC-MRI. Quantitative analysis of flow through the aqueduct was performed using PC-MRI. The causes of obstruction were aqueductal obstruction in 75% (n = 15), third ventricular obstruction in 5% (n = 1), and fourth ventricular obstruction in 20% (n = 4). The cause of arrest of hydrocephalus was spontaneous third ventriculostomy in 65% (n = 13), endoscopic third ventriculostomy in 10% (n = 2), and ventriculoperitoneal shunt in 5% (n = 1), and no cause could be detected in 20% of patients (n = 4). There is a positive correlation (r = 0.80) and moderate agreement (κ = 0.509) of grading with PC-MRI and 3D-CISS sequences. The mean peak systolic velocity of cerebrospinal fluid was 1.86 ± 2.48 cm/second, the stroke volume was 6.43 ± 13.81 μL/cycle, and the mean flow was 0.21 ± 0.32 mL/minute. We concluded that 3D-CISS and PC-MRI are noninvasive sequences for diagnosis of the level and cause of arrested hydrocephalus. Copyright © 2016 Elsevier Inc. All rights reserved.

  3. Nevoid basal cell carcinoma syndrome

    Science.gov (United States)

    NBCC syndrome; Gorlin-Goltz syndrome; Basal cell nevus syndrome; BCNS; Basal cell cancer - nevoid basal cell carcinoma syndrome ... Nevoid basal cell carcinoma nevus syndrome is a rare genetic ... syndrome is known as PTCH ("patched"). The gene is passed down ...

  4. The wellness syndrome

    DEFF Research Database (Denmark)

    Mik-Meyer, Nanna

    2015-01-01

    Klumme. Wellness er blevet et syndrom, og dets symptomer er angst, selvbebrejdelser og skyldfølelse. Kommentar med udgangspunkt i: Carl Cederström & Andre Spicer, "The Wellness Syndrome" (Polity Books, 2015. 200 p.).......Klumme. Wellness er blevet et syndrom, og dets symptomer er angst, selvbebrejdelser og skyldfølelse. Kommentar med udgangspunkt i: Carl Cederström & Andre Spicer, "The Wellness Syndrome" (Polity Books, 2015. 200 p.)....

  5. Turner Syndrome: Other FAQs

    Science.gov (United States)

    ... Other FAQs Share Facebook Twitter Pinterest Email Print Turner Syndrome: Other FAQs Basic information for topics, such as " ... been diagnosed with Turner syndrome. Now what? Is Turner syndrome inherited? Turner syndrome is usually not inherited, but ...

  6. Bardet-Biedl syndrome and Usher syndrome.

    Science.gov (United States)

    Koenig, Rainer

    2003-01-01

    Bardet-Biedl syndrome (BBS) and Usher syndrome (USH) are the most prevalent syndromic forms of retinitis pigmentosa (RP), together they make up almost a quarter of the patients with RP. BBS is defined by the association of retinopathy, obesity, hypogonadism, renal dysfunction, postaxial polydactyly and mental retardation. This clinically complex syndrome is genetically heterogeneous with linkage to more than 6 loci, and 4 genes have been cloned so far. Recent molecular data present evidence that, in some instances, the clinical manifestation of BBS requires recessive mutations in 1 of the 6 BBS loci plus one or two additional mutations in a second BBS locus (tri- or tetra-allelic inheritance). USH is characterized by the combination of congenital or early-onset sensorineural deafness, RP, and variable degrees of vestibular dysfunction. Each of the three clinical types is genetically heterogeneous: 7 loci have been mapped for type 1, three loci for type 2, and two loci for type 3. Currently, 6 USH genes (MYO7A, USH1C, CDH23, PCDH15, USH2A, USH3) have been identified. Pathogenetically, mutations of the USH1 genes seem to result in defects of auditory and retinal sensory cells, the USH 2 phenotype is caused by defects of extracellular matrix or cell surface receptor proteins, and USH3 may be due to synaptic disturbances. The considerable contribution of syndromic forms of RP requires interdisciplinary approaches to the clinical and diagnostic management of RP patients.

  7. Abdominal compartment syndrome with acute reperfusion syndrome

    International Nuclear Information System (INIS)

    Maleeva, A.

    2017-01-01

    Abdominal compartment syndrome was recognized clinically in the 19th century when Marey and Burt observed its association with declines in respiratory function. Abdominal compartment syndrome is first used as a medical terminology from Fietsman in a case of ruptured abdominal aortic aneurysm. A condition caused by abnormally increased pressure within the abdomen. Causes of abdominal compartment syndrome include trauma, surgery, or infection. Common symptoms: abdominal distension, fast heart rate, insufficient urine production, or low blood pressure Medical procedure: nasogastric intubation Surgery: laparotomy Specialists: radiologist, primary care provider (PCP), surgeon, and emergency medicine doctor [6, 10]. Keywords: Stomach. Gastroparesis . Diabetes Mellitus [bg

  8. Munchausen syndrome and Munchausen syndrome by proxy in dermatology.

    Science.gov (United States)

    Boyd, Alan S; Ritchie, Coleman; Likhari, Sunaina

    2014-08-01

    Patients with Munchausen syndrome purposefully injure themselves, often with the injection of foreign materials, to gain hospital admission and the attention associated with having a difficult-to-identify condition. Munchausen syndrome by proxy occurs when a child's caregiver, typically the mother, injures the child for the same reasons. Cases of Munchausen syndrome and Munchausen syndrome by proxy with primary cutaneous involvement appear to be rarely described in the literature suggesting either that diagnosis is not made readily or that it is, in fact, an uncommon disorder. At the center of both conditions is significant psychological pathology and treatment is difficult as many patients with Munchausen syndrome when confronted with these diagnostic possibilities simply leave the hospital. Little is known about the long-term outcome or prognosis of these patients. Copyright © 2014 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

  9. Simulation of hydrocephalus condition in infant head

    Science.gov (United States)

    Wijayanti, Erna; Arif, Idam

    2014-03-01

    Hydrocephalus is a condition of an excessive of cerebrospinal fluid in brain. In this paper, we try to simulate the behavior of hydrocephalus conditions in infant head by using a hydro-elastic model which is combined with orthotropic elastic skull and with the addition of suture that divide the skull into two lobes. The model then gives predictions for the case of stenosis aqueduct by varying the cerebral aqueduct diameter, time constant and brain elastic modulus. The hydrocephalus condition which is shown by the significant value of ventricle displacement, as the result shows, is occurred when the aqueduct is as resistant as brain parenchyma for the flow of cerebrospinal fluid. The decrement of brain elastic modulus causes brain parenchyma displacement value approach ventricle displacement value. The smaller of time constant value causes the smaller value of ventricle displacement.

  10. Roberts-SC syndrome, a rare syndrome and cleft palate repair

    Directory of Open Access Journals (Sweden)

    Murthy Jyotsna

    2008-01-01

    Full Text Available Roberts SC syndrome is a rare syndrome with only 17 previously recognized patients reported in medical literature. The syndrome is characterized by multiple malformations, particularly, symmetrical limb reduction, craniofacial anomalies such as bilateral cleft lip and palate, micrognathia, and severe growth and mental retardation. Our patient, a young child of five years having Roberts-SC, was successfully operated for cleft palate under general anesthesia. The main features of the syndrome and the technical problems of anesthesia and surgery are discussed in this report.

  11. Sjogren-Larsson Syndrome

    Science.gov (United States)

    ... Or In Memory Of Obituaries Contact Us Donate Sjogren-Larsson Syndrome What causes SLS? SLS is caused by mutations ... methods of diagnosing SLS. Other Clinical Names for Sjogren-Larsson Syndrome Other clinical names of Sjogren-Larsson Syndrome include: ...

  12. Redefining syndromic surveillance

    Directory of Open Access Journals (Sweden)

    Rebecca Katz

    2011-12-01

    Full Text Available With growing concerns about international spread of disease and expanding use of early disease detection surveillance methods, the field of syndromic surveillance has received increased attention over the last decade. The purpose of this article is to clarify the various meanings that have been assigned to the term syndromic surveillance and to propose a refined categorization of the characteristics of these systems. Existing literature and conference proceedings were examined on syndromic surveillance from 1998 to 2010, focusing on low- and middle-income settings. Based on the 36 unique definitions of syndromic surveillance found in the literature, five commonly accepted principles of syndromic surveillance systems were identified, as well as two fundamental categories: specific and non-specific disease detection. Ultimately, the proposed categorization of syndromic surveillance distinguishes between systems that focus on detecting defined syndromes or outcomes of interest and those that aim to uncover non-specific trends that suggest an outbreak may be occurring. By providing an accurate and comprehensive picture of this field’s capabilities, and differentiating among system types, a unified understanding of the syndromic surveillance field can be developed, encouraging the adoption, investment in, and implementation of these systems in settings that need bolstered surveillance capacity, particularly low- and middle-income countries.

  13. Gorlin-Goltz Syndrome

    Directory of Open Access Journals (Sweden)

    Padma Pandeshwar

    2012-01-01

    Full Text Available The Gorlin-Goltz syndrome (GGS (the nevoid basal cell carcinoma syndrome—NBCCS is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched gene found on chromosome arm 9q. The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. GGS is a multidisciplinary problem, early diagnosis of which allows introduction of secondary prophylaxis and following an appropriate treatment to delay the progress of the syndrome. The following report emphasizes the need for awareness of the diagnostic criteria of this syndrome in cases with no typical skin lesions.

  14. Sjögren syndrome

    Science.gov (United States)

    Xerostomia - Sjögren syndrome; Keratoconjunctivitis sicca - Sjögren; Sicca syndrome ... The cause of Sjögren syndrome is unknown. It is an autoimmune disorder. This means the body attacks healthy tissue by mistake. The syndrome occurs most ...

  15. Marfan Syndrome (For Parents)

    Science.gov (United States)

    ... en español Síndrome de Marfan What Is Marfan Syndrome? Marfan syndrome is a genetic disorder of the body's ... bones , blood vessels, and organs. What Causes Marfan Syndrome? Marfan syndrome happens because of an abnormality in one ...

  16. Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome).

    Science.gov (United States)

    Kiran, N K; Tilak Raj, T N; Mukunda, K S; Rajashekar Reddy, V

    2012-10-01

    The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by odontogenic keratocysts in the jaw, multiple basal cell nevi carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the odontogenic keratocysts are usually one of the first manifestations of the syndrome. This case report presents a patient diagnosed as NBCCS by clinical, radiographic and histological findings in a 13-year-old boy. This paper highlights the importance of early diagnosis of NBCCS which can help in preventive multidisciplinary approach to provide a better prognosis for the patient.

  17. Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome

    Directory of Open Access Journals (Sweden)

    N K Kiran

    2012-01-01

    Full Text Available The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS, is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by odontogenic keratocysts in the jaw, multiple basal cell nevi carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the odontogenic keratocysts are usually one of the first manifestations of the syndrome. This case report presents a patient diagnosed as NBCCS by clinical, radiographic and histological findings in a 13-year-old boy. This paper highlights the importance of early diagnosis of NBCCS which can help in preventive multidisciplinary approach to provide a better prognosis for the patient.

  18. ``Battered child`` syndrome; Das ``Battered-Child``-Syndrom

    Energy Technology Data Exchange (ETDEWEB)

    Elsner, K.; Merk, J.; Sokiranski, R. [Ulm Univ. (Germany). Abt. Diagnostische Radiologie

    1997-10-01

    Synonyms for the `battered child` syndrome (BCS) are terms describing the physical and body aspects of the process, such as `child abuse`, or `non-accidental injury`. These are to be distinguished from the psychic aspects and abuse, emotional and bodily neglect, and sexual abuse. Most cases are one or another combination of these aspects. Radiology is the essential method for giving proof of such abuses, identifying the signs of maltreatment in a medical record, or for disproving suspected abuse. (orig./AJ) [Deutsch] Als Synonym fuer das `Battered-Child`-Syndrom (BCS) stehen die Begriffe der koerperlichen-/physikalischen-Kindesmisshandlung, im angelsaechsischen Sprachraum die Begriffe `Child Abuse` und `Nonaccidental Injury`. Vom Syndrom abzugrenzen sind die seelische Misshandlung, die seelische und koerperliche Vernachlaessigung, und der sexuelle Missbrauch. Kombinationsformen sind nicht selten. Bei der Diagnostik des Syndroms spielt die Radiologie eine entscheidende Rolle. So hilft der Einsatz adaequater Untersuchungsmethoden, den Tatbestand der Misshandlung zu identifizieren und zu dokumentieren, aber auch einen Verdacht zu widerlegen. (orig./AJ)

  19. Hepatorenal syndrome

    Science.gov (United States)

    ... 2016:chap 153. Nevah MI, Fallon MB. Hepatic encephalopathy, hepatorenal syndrome, hepatopulmonary syndrome, and other systemic complications of liver disease. In: Feldman M, Friedman LS, Brandt LJ, ...

  20. Prevalence of Burnout Syndrome in patients admitted with acute coronary syndrome.

    Science.gov (United States)

    Prosdócimo, Ana Cláudia Giaxa; Lucina, Luciane Boreki; Marcia, Olandoski; Jobs, Priscila Megda João; Schio, Nicolle Amboni; Baldanzi, Fernanda Fachin; Costantini, Costantino Ortiz; Benevides-Pereira, Ana Maria Teresa; Guarita-Souza, Luiz Cesar; Faria-Neto, José Rocha

    2015-03-01

    Burnout Syndrome is the extreme emotional response to chronic occupational stress, manifesting as physical and mental exhaustion. Although associated with higher prevalence of cardiovascular risk factors, no study so far has evaluated whether the Burnout Syndrome could be a prevalent factor in non-elderly individuals active in the labor market, admitted for acute coronary syndrome (ACS). To evaluate the prevalence of the Burnout Syndrome in non-elderly, economically active patients, hospitalized with ACS. Cross-sectional study conducted in a tertiary and private cardiology center, with economically active patients aged Burnout Syndrome was evaluated with the Burnout Syndrome Inventory (BSI), which assesses workplace conditions and four dimensions that characterize the syndrome: emotional exhaustion (EE), emotional distancing (EmD), dehumanization (De) and professional fulfillment (PF). The Lipp's Stress Symptoms Inventory for Adults (LSSI) was applied to evaluate global stress. Of 830 patients evaluated with suspected ACS, 170 met the study criteria, 90% of which were men, overall average age was 52 years, and 40.5% had an average income above 11 minimum wages. The prevalence of the Burnout Syndrome was 4.1%. When we evaluated each dimension individually, we found high EE in 34.7%, high De in 52.4%, high EDi in 30.6%, and low PF in 5.9%. The overall prevalence of stress was 87.5%. We found a low prevalence of Burnout Syndrome in an economically active, non-elderly population among patients admitted for ACS in a tertiary and private hospital.

  1. SLC26A4 mutations are associated with a specific inner ear malformation.

    Science.gov (United States)

    Fitoz, Suat; Sennaroğlu, Levent; Incesulu, Armağan; Cengiz, Filiz Başak; Koç, Yasemin; Tekin, Mustafa

    2007-03-01

    Inner ear anomalies have been reported in approximately 30% of children with early onset deafness. Identification of causative genetic factors in a large proportion of these patients was not successful. Mutations in the SLC26A4 gene have been detected in individuals with enlarged vestibular aqueduct (EVA) or Mondini dysplasia. We aimed to characterize the inner ear anomalies associated with SLC26A4 mutations. The SLC26A4 gene has been screened for mutations in 16 subjects from 14 unrelated Turkish families with a variety of inner ear anomalies ranging from Michel aplasia to incomplete partition-II and EVA. None of the patients was diagnosed to have a recognizable genetic syndrome. Additional four patients with Pendred syndrome from three families were included. Only one patient with EVA was found to have a heterozygous mutation (c.1586delT) in SLC26A4. All patients with Pendred syndrome had homozygous mutations and were noted to have either EVA or EVA associated with incomplete partition-II on the computed tomography of the temporal bone. SLC26A4 mutations are not associated with a large spectrum of inner ear anomalies. They, instead, result in a specific morphological appearance consistent with EVA or incomplete partition-II.

  2. Turner Syndrome (For Teens)

    Science.gov (United States)

    ... Staying Safe Videos for Educators Search English Español Turner Syndrome KidsHealth / For Teens / Turner Syndrome What's in this ... en español El síndrome de Turner What Is Turner Syndrome? Turner syndrome (TS) is a genetic condition found ...

  3. DIDMOAD (Wolfram Syndrome

    Directory of Open Access Journals (Sweden)

    Masoud Nashibi

    2016-07-01

    Full Text Available Wolfram syndrome was first described by physician D J Wolfram and Wagener in 1938. This autosomal recessive syndrome is also referred to as DIDMOAD syndrome which stands for Diabetes Insipidus, Insulin Dependent Diabetes Mellitus, Optic Atrophy and Deafness

  4. [The Capgras syndrome].

    Science.gov (United States)

    Anikina, M A; Levin, O S

    2013-01-01

    The Capgras syndrome is one of delusional-like misidentification syndrome in which a person holds a delusion that one or several his/her friends or relatives have been replaced by an identical-looking impostor. As any other delusional disorder, the Capgras syndrome is characterized by stability despite the indisputable arguments against fault views. Initially, this syndrome was considered as a presentation of schizophrenia but later it has been described in brain organic disorders, primarily in elderly patients with dementia.

  5. Revesz syndrome

    Directory of Open Access Journals (Sweden)

    Dayane Cristine Issaho

    2015-04-01

    Full Text Available Revesz syndrome is a rare variant of dyskeratosis congenita and is characterized by bilateral exudative retinopathy, alterations in the anterior ocular segment, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, bone marrow failure, cerebral calcification, cerebellar hypoplasia and psychomotor retardation. Few patients with this syndrome have been reported, and significant clinical variations exist among patients. This report describes the first Brazilian case of Revesz syndrome and its ocular and clinical features.

  6. Cardiorenal Syndrome in Acute Heart Failure Syndromes

    Directory of Open Access Journals (Sweden)

    Mohammad Sarraf

    2011-01-01

    Full Text Available Impaired cardiac function leads to activation of the neurohumoral axis, sodium and water retention, congestion and ultimately impaired kidney function. This sequence of events has been termed the Cardiorenal Syndrome. This is different from the increase in cardiovascular complications which occur with primary kidney disease, that is, the so-called Renocardiac Syndrome. The present review discusses the pathogenesis of the Cardiorenal Syndrome followed by the benefits and potential deleterious effects of pharmacological agents that have been used in this setting. The agents discussed are diuretics, aquaretics, natriuretic peptides, vasodilators, inotropes and adenosine α1 receptor antagonists. The potential role of ultrafiltration is also briefly discussed.

  7. Interstitial Cystitis/Painful Bladder Syndrome and Associated Medical Conditions With an Emphasis on Irritable Bowel Syndrome, Fibromyalgia and Chronic Fatigue Syndrome

    DEFF Research Database (Denmark)

    Nickel, J.C.; Tripp, D.A.; Pontari, M.

    2010-01-01

    of associated conditions increased (ie localized, regional, systemic), pain, stress, depression and sleep disturbance increased while social support, sexual functioning and quality of life deteriorated. Anxiety and catastrophizing remained increased in all groups. Symptom duration was associated......Purpose: We characterized and compared the impact of clinical phenotypic associations between interstitial cystitis/painful bladder syndrome and controls in relation to potentially related conditions, particularly irritable bowel syndrome, fibromyalgia and chronic fatigue syndrome. Materials...... cystitis/painful bladder syndrome vs controls was irritable bowel syndrome 38.6% vs 5.2%, fibromyalgia 17.7% vs 2.6% and chronic fatigue syndrome 9.5% vs 1.7% (all p

  8. Plummer-Vinson syndrome

    Directory of Open Access Journals (Sweden)

    Novacek Gottfried

    2006-09-01

    Full Text Available Abstract Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs. Exact data about epidemiology of the syndrome are not available; the syndrome is extremely rare. Most of the patients are white middle-aged women, in the fourth to seventh decade of life but the syndrome has also been described in children and adolescents. The dysphagia is usually painless and intermittent or progressive over years, limited to solids and sometimes associated with weight loss. Symptoms resulting from anemia (weakness, pallor, fatigue, tachycardia may dominate the clinical picture. Additional features are glossitis, angular cheilitis and koilonychia. Enlargement of the spleen and thyroid may also be observed. One of the most important clinical aspects of Plummer-Vinson syndrome is the association with upper alimentary tract cancers. Etiopathogenesis of Plummer-Vinson syndrome is unknown. The most important possible etiological factor is iron deficiency. Other possible factors include malnutrition, genetic predisposition or autoimmune processes. Plummer-Vinson syndrome can be treated effectively with iron supplementation and mechanical dilation. In case of significant obstruction of the esophageal lumen by esophageal web and persistent dysphagia despite iron supplementation, rupture and dilation of the web are necessary. Since Plummer-Vinson syndrome is associated with an increased risk of squamous cell carcinoma of the pharynx and the esophagus, the patients should be followed closely.

  9. Genetics Home Reference: antiphospholipid syndrome

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Antiphospholipid syndrome Antiphospholipid syndrome Printable PDF Open All Close All Enable ... area? Other Names for This Condition anti-phospholipid syndrome antiphospholipid antibody syndrome Hughes syndrome Related Information How are ...

  10. Genetics Home Reference: Costello syndrome

    Science.gov (United States)

    ... other genetic conditions, cardiofaciocutaneous syndrome (CFC syndrome) and Noonan syndrome . In affected infants, it can be difficult to ... These individuals may actually have CFC syndrome or Noonan syndrome , which are caused by mutations in related genes. ...

  11. Metabolic syndrome and menopause

    Directory of Open Access Journals (Sweden)

    Jouyandeh Zahra

    2013-01-01

    Full Text Available Abstract Background The metabolic syndrome is defined as an assemblage of risk factors for cardiovascular diseases, and menopause is associated with an increase in metabolic syndrome prevalence. The aim of this study was to assess the prevalence of metabolic syndrome and its components among postmenopausal women in Tehran, Iran. Methods In this cross-sectional study in menopause clinic in Tehran, 118 postmenopausal women were investigated. We used the adult treatment panel 3 (ATP3 criteria to classify subjects as having metabolic syndrome. Results Total prevalence of metabolic syndrome among our subjects was 30.1%. Waist circumference, HDL-cholesterol, fasting blood glucose, diastolic blood pressure ,Systolic blood pressure, and triglyceride were significantly higher among women with metabolic syndrome (P-value Conclusions Our study shows that postmenopausal status is associated with an increased risk of metabolic syndrome. Therefore, to prevent cardiovascular disease there is a need to evaluate metabolic syndrome and its components from the time of the menopause.

  12. Wolfram syndrome 1 and Wolfram syndrome 2.

    Science.gov (United States)

    Rigoli, Luciana; Di Bella, Chiara

    2012-08-01

    Wolfram syndrome 1 (WS1) is an autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DI DM OA D syndrome) associated with other variable clinical manifestations. The causative gene for WS1 (WFS1) encoding wolframin maps to chromosome 4p16.1. Wolframin has an important function in maintaining the homeostasis of the endoplasmic reticulum (ER) in pancreatic β cells. Recently, another causative gene, CISD2, has been identified in patients with a type of Wolfram syndrome (WS2) resulting in early optic atrophy, diabetes mellitus, deafness, decreased lifespan, but not diabetes insipidus. The CISD2-encoded protein ERIS (endoplasmic reticulum intermembrane small protein) also localizes to ER, but does not interact directly with wolframin. ERIS maps to chromosome 4q22. Numerous studies have shown an interesting similarity between WFS1 and CISD2 genes. Experimental studies demonstrated that the Cisd2 knockout (Cisd2) mouse shows premature aging and typical symptoms of Wolfram syndrome. These researches provide interesting insight into the relation of neurodegenerative diseases, mitochondrial disorders, and autophagy and are useful for the pathophysiological understanding of both Wolfram syndrome and mitochondrial-mediated premature aging. The knowledge of WS1 and WS2 pathogenesis, and of the interactions between WFS1 and CISD2 genes, is useful for accurate diagnostic classification and for diagnosis of presymptomatic individuals.

  13. Interaction Between Syndromic and Non-Syndromic Factors Affecting Speech and Language Development in Treacher-Collins Syndrome

    Directory of Open Access Journals (Sweden)

    Marziyeh Poorjavad

    2011-09-01

    Full Text Available Background: Treacher-Collins syndrome is a congenital craniofacial disorder with multiple anomalies. This syndrome affects the maxilla, mandible, eyes, middle and outer ears, and soft palate. Conductive hearing loss due to the deformities of the middle and external ears is prevalent. The characteristics of this syndrome include multiple and serious threats to normal communication development in children. In this study, speech and language features of a Persian speaking child with this syndrome are presented.Case: The case was an 8-year old girl with Treacher-Collins syndrome and bilateral moderate conductive hearing loss due to atretic canal. In language and speech assessments, moderate hypernasality, numerous compensatory errors and morphosyntactic deficits were observed. There were 13 phonemes that were incorrectly produced at least in one position. Besides, she used 22 types of phonological processes that were abnormal and disappear before the age of three in normal Persian speaking children.Conclusion: Moderate hearing loss, velopharyngeal incompetency, malocclusion and dental anomalies, attention deficit/hyperactivity disorder (ADHD and environmental factors resulted in severe speech and language disorders in this case. These disorders affected her academic performance as well. Moderate hypernasality, numerous compensatory errors, and excessive and abnormal use of phonological processes were not presented as prevalent characteristics of Treacher-Collins syndrome in other resources.

  14. Urofacial syndrome

    Directory of Open Access Journals (Sweden)

    Kamal F Akl

    2012-01-01

    Full Text Available The urofacial syndrome is characterized by functional obstructive uropathy asso-ciated with an inverted smile. The importance of the subject is that it sheds light, not only on the muscles of facial expression, but also on the inheritance of voiding disorders and lower urinary tract malformations. We report a 10-year-old-male patient who had the urofacial syndrome. Early diagnosis of the urofacial syndrome is important to avoid upper urinary tract damage and renal failure.

  15. Felty syndrome

    Science.gov (United States)

    Seropositive rheumatoid arthritis (RA); Felty's syndrome ... The cause of Felty syndrome is unknown. It is more common in people who have had rheumatoid arthritis (RA) for a long time. People with ...

  16. Pendred Syndrome

    Science.gov (United States)

    ... other possible long-term consequences of the syndrome. Children with Pendred syndrome should start early treatment to gain communication skills, such as learning sign language or cued speech or learning to ...

  17. Unusual headache syndromes.

    Science.gov (United States)

    Queiroz, Luiz P

    2013-01-01

    Some headache syndromes have few cases reported in the literature. Their clinical characteristics, pathogenesis, and treatment may have not been completely defined. They may not actually be uncommon but rather under-recognized and/or underreported. A literature review of unusual headache syndromes, searching PubMed and ISI Web of Knowledge, was performed. After deciding which disorders to study, relevant publications in scientific journals, including original articles, reviews, meeting abstracts, and letters or correspondences to the editors were searched. This paper reviewed the clinical characteristics, the pathogenesis, the diagnosis, and the treatment of five interesting and unusual headache syndromes: exploding head syndrome, red ear syndrome, neck-tongue syndrome, nummular headache, and cardiac cephalgia. Recognizing some unusual headaches, either primary or secondary, may be a challenge for many non-headache specialist physicians. It is important to study them because the correct diagnosis may result in specific treatments that may improve the quality of life of these patients, and this can even be life saving. © 2013 American Headache Society.

  18. Burnout Syndrome of Teachers

    OpenAIRE

    Semrádová, Michaela

    2013-01-01

    The bachelor's thesis covers burnout syndrome of teachers. Defines burnout syndrome, describes its causes and symptoms. Describes teaching as helping profession and focousing on stressful situations at school. In the last chapter described different prevention strategies burnout syndrome. Key words: burnout syndrome, teaching, teacher, helping professions, beginning teacher, stress

  19. Prevalence of Burnout Syndrome in Patients Admitted with Acute Coronary Syndrome

    Directory of Open Access Journals (Sweden)

    Ana Cláudia Giaxa Prosdócimo

    2015-03-01

    Full Text Available Background: Burnout Syndrome is the extreme emotional response to chronic occupational stress, manifesting as physical and mental exhaustion. Although associated with higher prevalence of cardiovascular risk factors, no study so far has evaluated whether the Burnout Syndrome could be a prevalent factor in non-elderly individuals active in the labor market, admitted for acute coronary syndrome (ACS. Objective: To evaluate the prevalence of the Burnout Syndrome in non-elderly, economically active patients, hospitalized with ACS. Methods: Cross-sectional study conducted in a tertiary and private cardiology center, with economically active patients aged <65 years, hospitalized with diagnosis of ACS. The Burnout Syndrome was evaluated with the Burnout Syndrome Inventory (BSI, which assesses workplace conditions and four dimensions that characterize the syndrome: emotional exhaustion (EE, emotional distancing (EmD, dehumanization (De and professional fulfillment (PF. The Lipp’s Stress Symptoms Inventory for Adults (LSSI was applied to evaluate global stress. Results: Of 830 patients evaluated with suspected ACS, 170 met the study criteria, 90% of which were men, overall average age was 52 years, and 40.5% had an average income above 11 minimum wages. The prevalence of the Burnout Syndrome was 4.1%. When we evaluated each dimension individually, we found high EE in 34.7%, high De in 52.4%, high EDi in 30.6%, and low PF in 5.9%. The overall prevalence of stress was 87.5%. Conclusion: We found a low prevalence of Burnout Syndrome in an economically active, non-elderly population among patients admitted for ACS in a tertiary and private hospital.

  20. "Nine" syndrome: A new neuro-ophthalmologic syndrome: Report of two cases

    Directory of Open Access Journals (Sweden)

    Rohan R Mahale

    2015-01-01

    Full Text Available "Eight-and-a-half" syndrome is a rare condition involving the ipsilateral abducens nucleus or paramedian pontine reticular formation (PPRF, the ipsilateral medial longitudinal fasciculus (MLF, and the adjacent facial colliculus/facial nerve fascicle. The condition is often caused by a lesion (vascular or demyelinating in the dorsal tegmentum of the caudal pons. There are new variants of this syndrome caused by extension of lesion to involve new adjacent structures in pontine tegmentum. We report two patients with different etiology presenting with clinical features suggestive of eight-and-a-half syndrome associated with hemiataxia representing "nine" syndrome (8– + – = 9 adding new dimension to "eight-and-a-half" syndrome.

  1. Mobius syndrome redefined: a syndrome of rhombencephalic maldevelopment.

    NARCIS (Netherlands)

    Verzijl, H.T.F.M.; Zwaag, A. van der; Cruysberg, J.R.M.; Padberg, G.W.A.M.

    2003-01-01

    OBJECTIVE: To investigate the variable clinical picture of Mobius syndrome (MIM no. 157900) and to further understand the pathogenesis of the disorder. METHODS: A standardized questionnaire was submitted to 37 Dutch patients with Mobius syndrome. All underwent standardized neurologic examination

  2. Bartter syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000308.htm Bartter syndrome To use the sharing features on this page, please enable JavaScript. Bartter syndrome is a group of rare conditions that affect ...

  3. Dravet Syndrome

    Science.gov (United States)

    ... and supports a broad program of basic and clinical research on all types of epilepsy, including Dravet syndrome. Study of the genetic defects responsible for Dravet syndrome and related ... Publications Definition Dravet ...

  4. Genetics Home Reference: Marfan syndrome

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Marfan syndrome Marfan syndrome Printable PDF Open All Close All Enable Javascript ... Marfan syndrome KidsHealth from Nemours Foundation MalaCards: marfan syndrome Orphanet: Marfan syndrome Your Genes Your Health from Cold Spring ...

  5. 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.

  6. Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Shukla Umesh

    2010-11-01

    Full Text Available Abstract Introduction We report the case of an unusual association of Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome. This association has never previously been reported in the medical literature. Case presentation A nine-year-old Indian girl was referred to our hospital for growth retardation, mental retardation, lax joints, generalized hypertrichosis, and hypoplastic fifth fingernails and toenails. A thorough medical examination and evaluation revealed she had phenotypic features of Coffin-Siris syndrome, with Mayer-Rokitansky-Küster-Hauser syndrome on radiological evaluation. The karyotype of our patient was normal. Conclusion In an unexplained case of mental retardation with facies suggestive of Coffin-Siris syndrome, association with Mayer-Rokitansky-Küster-Hauser syndrome should be considered and the patient should be evaluated for the same. Both of these syndromes may have a common pathogenesis, as yet unknown. This case report has broad implications, as similar cases in future may give insights into the pathogenesis of both these syndromes.

  7. Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report.

    Science.gov (United States)

    Goyal, Deepak; Yadav, Dinesh K; Shukla, Umesh; Sethi, Sidharth K

    2010-11-08

    We report the case of an unusual association of Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome. This association has never previously been reported in the medical literature. A nine-year-old Indian girl was referred to our hospital for growth retardation, mental retardation, lax joints, generalized hypertrichosis, and hypoplastic fifth fingernails and toenails. A thorough medical examination and evaluation revealed she had phenotypic features of Coffin-Siris syndrome, with Mayer-Rokitansky-Küster-Hauser syndrome on radiological evaluation. The karyotype of our patient was normal. In an unexplained case of mental retardation with facies suggestive of Coffin-Siris syndrome, association with Mayer-Rokitansky-Küster-Hauser syndrome should be considered and the patient should be evaluated for the same. Both of these syndromes may have a common pathogenesis, as yet unknown. This case report has broad implications, as similar cases in future may give insights into the pathogenesis of both these syndromes.

  8. Patofysiologiske mekanismer bag øjensymptomer ved primaere tumorer i corpus pineale

    DEFF Research Database (Denmark)

    Illum, N O; Møller, M; Garde, E

    1993-01-01

    Primary tumors of the pineal body can produce dyscoordinative movements of the eye, pupillary dilatation, paralysis of adduction during convergence and nystagmus. Obstruction of the aqueduct can cause hydrocephalus, increased intracranial pressure and papilledema. Diabetes insipidus may be a pres......Primary tumors of the pineal body can produce dyscoordinative movements of the eye, pupillary dilatation, paralysis of adduction during convergence and nystagmus. Obstruction of the aqueduct can cause hydrocephalus, increased intracranial pressure and papilledema. Diabetes insipidus may...

  9. Rett Syndrome

    Science.gov (United States)

    Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. ...

  10. Caplan syndrome

    Science.gov (United States)

    ... enable JavaScript. Rheumatoid pneumoconiosis (RP; also known as Caplan syndrome) is swelling (inflammation) and scarring of the ... avoid exposure to inorganic dust. Alternative Names RP; Caplan syndrome; Pneumoconiosis - rheumatoid; Silicosis - rheumatoid pneumoconiosis; Coal worker's ...

  11. Sotos Syndrome

    Science.gov (United States)

    ... Clinical Trials Organizations Publications Definition Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation ... have also been reported. × Definition Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation ...

  12. Long-term hydrocephalus alters the cytoarchitecture of the adult subventricular zone

    Science.gov (United States)

    Campos-Ordoñez, Tania; Herranz-Pérez, Vicente; Chaichana, Kaisorn L.; Rincon-Torroella, Jordina; Rigamonti, Daniele; García-Verdugo, Jose M.; Quiñones-Hinojosa, Alfredo; Gonzalez-Perez, Oscar

    2014-01-01

    Hydrocephalus can develop secondarily to a disturbance in production, flow and/or absorption of cerebrospinal fluid. Experimental models of hydrocephalus, especially subacute and chronic hydrocephalus, are few and limited, and the effects of hydrocephalus on the subventricular zone are unclear. The aim of this study was to analyze the effects of long-term obstructive hydrocephalus on the subventricular zone, which is the neurogenic niche lining the lateral ventricles. We developed a new method to induce hydrocephalus by obstructing the aqueduct of Sylvius in the mouse brain, thus simulating aqueductal stenosis in humans. In 120-day-old rodents (n = 18 per group), the degree of ventricular dilatation and cellular composition of the subventricular zone were studied by immunofluorescence and transmission electron microscopy. In adult patients (age > 18 years), the sizes of the subventricular zone, corpus callosum, and internal capsule were analyzed by magnetic resonance images obtained from patients with and without aqueductal stenosis (n=25 per group). Mice with 60-day hydrocephalus had a reduced number of Ki67+ and doublecortin+ cells on immunofluorescence, as well as decreased number of neural progenitors and neuroblasts in the subventricular zone on electron microscopy analysis as compared to non-hydrocephalic mice. Remarkably, a number of extracellular matrix structures (fractones) contacting the ventricular lumen and blood vessels were also observed around the subventricular zone in mice with hydrocephalus. In humans, the widths of the subventricular zone, corpus callosum, and internal capsule in patients with aqueductal stenosis were significantly smaller than age and gender-matched patients without aqueductal stenosis. In summary, supratentorial hydrocephalus reduces the proliferation rate of neural progenitors and modifies the cytoarchitecture and extracellular matrix compounds of the subventricular zone. In humans, this similar process reduces the

  13. Chronic exertional compartment syndrome with medial tibial stress syndrome in twins.

    Science.gov (United States)

    Banerjee, Purnajyoti; McLean, Christopher

    2011-06-14

    Chronic exertional compartment syndrome and medial tibial stress syndrome are uncommon conditions that affect long-distance runners or players involved in team sports that require extensive running. We report 2 cases of bilateral chronic exertional compartment syndrome, with medial tibial stress syndrome in identical twins diagnosed with the use of a Kodiag monitor (B. Braun Medical, Sheffield, United Kingdom) fulfilling the modified diagnostic criteria for chronic exertional compartment syndrome as described by Pedowitz et al, which includes: (1) pre-exercise compartment pressure level >15 mm Hg; (2) 1 minute post-exercise pressure >30 mm Hg; and (3) 5 minutes post-exercise pressure >20 mm Hg in the presence of clinical features. Both patients were treated with bilateral anterior fasciotomies through minimal incision and deep posterior fasciotomies with tibial periosteal stripping performed through longer anteromedial incisions under direct vision followed by intensive physiotherapy resulting in complete symptomatic recovery. The etiology of chronic exertional compartment syndrome is not fully understood, but it is postulated abnormal increases in intramuscular pressure during exercise impair local perfusion, causing ischemic muscle pain. No familial predisposition has been reported to date. However, some authors have found that no significant difference exists in the relative perfusion, in patients, diagnosed with chronic exertional compartment syndrome. Magnetic resonance images of affected compartments have indicated that the pain is not due to ischemia, but rather from a disproportionate oxygen supply versus demand. We believe this is the first report of chronic exertional compartment syndrome with medial tibial stress syndrome in twins, raising the question of whether there is a genetic predisposition to the causation of these conditions. Copyright 2011, SLACK Incorporated.

  14. Moyamoya syndrome in a patient with Noonan-like syndrome with loose anagen hair.

    Science.gov (United States)

    Choi, Jin-Ho; Oh, Moon-Yeon; Yum, Mi-Sun; Lee, Beom Hee; Kim, Gu-Hwan; Yoo, Han-Wook

    2015-03-01

    Noonan-like syndrome with loose anagen hair is one of the RASopathies characterized by Noonan syndrome-like features with unique ectodermal abnormalities. This syndrome is caused by mutations in the SHOC2 gene. We encountered a patient with moyamoya syndrome associated with Noonan-like syndrome with loose anagen hair presenting with transient ischemic attacks. A 6-year-old girl was diagnosed with Noonan-like syndrome with loose anagen hair because of profound short stature and ectodermal anomalies such as sparse and easily pluckable hair. A heterozygous mutation of c.4A>G (p.S2G) in the SHOC2 gene was identified, and recombinant human growth hormone therapy was initiated at 8 years of age. At age 10, she manifested recurrent left hemiplegia. Moreover, cerebrovascular imaging revealed occlusion or narrowing of both internal carotid arteries and both middle cerebral arteries with distal moyamoya-like vessels. She is treated with aspirin and calcium channel blocker. We describe the first case of Noonan-like syndrome with loose anagen hair associated with moyamoya syndrome, although it has been reported to be associated with a few cases of other RASopathies, including Noonan, cardiofaciocutaneous, and Costello syndromes. This report emphasizes the associations between cerebrovascular anomalies and Noonan-like syndrome with loose anagen hair. Copyright © 2015 Elsevier Inc. All rights reserved.

  15. Abdominal vascular syndromes: characteristic imaging findings

    International Nuclear Information System (INIS)

    Cardarelli-Leite, Leandro; Velloni, Fernanda Garozzo; Salvadori, Priscila Silveira; Lemos, Marcelo Delboni; D'Ippolito, Giuseppe

    2016-01-01

    Abdominal vascular syndromes are rare diseases. Although such syndromes vary widely in terms of symptoms and etiologies, certain imaging findings are characteristic. Depending on their etiology, they can be categorized as congenital - including blue rubber bleb nevus syndrome, Klippel-Trenaunay syndrome, and hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) - compressive - including 'nutcracker' syndrome, median arcuate ligament syndrome, Cockett syndrome (also known as May-Thurner syndrome), and superior mesenteric artery syndrome. In this article, we aimed to illustrate imaging findings that are characteristic of these syndromes, through studies conducted at our institution, as well as to perform a brief review of the literature on this topic. (author)

  16. Abdominal vascular syndromes: characteristic imaging findings

    Energy Technology Data Exchange (ETDEWEB)

    Cardarelli-Leite, Leandro; Velloni, Fernanda Garozzo; Salvadori, Priscila Silveira; Lemos, Marcelo Delboni; D' Ippolito, Giuseppe, E-mail: leandrocleite@gmail.com [Universidade Federal de Sao Paulo (EPM/UNIFESP), Sao Paulo, SP (Brazil). Escola Paulista de Mediciana. Departmento de Diagnostico por Imagem

    2016-07-15

    Abdominal vascular syndromes are rare diseases. Although such syndromes vary widely in terms of symptoms and etiologies, certain imaging findings are characteristic. Depending on their etiology, they can be categorized as congenital - including blue rubber bleb nevus syndrome, Klippel-Trenaunay syndrome, and hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) - compressive - including 'nutcracker' syndrome, median arcuate ligament syndrome, Cockett syndrome (also known as May-Thurner syndrome), and superior mesenteric artery syndrome. In this article, we aimed to illustrate imaging findings that are characteristic of these syndromes, through studies conducted at our institution, as well as to perform a brief review of the literature on this topic. (author)

  17. Cushing's Syndrome

    Science.gov (United States)

    Cushing's syndrome is a hormonal disorder. The cause is long-term exposure to too much cortisol, a hormone that ... your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper body obesity ...

  18. Usher Syndrome

    Science.gov (United States)

    Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder that causes ... and vision. There are three types of Usher syndrome: People with type I are deaf from birth ...

  19. Metabolic Syndrome

    Science.gov (United States)

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These conditions ... agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is ...

  20. Reye Syndrome

    Science.gov (United States)

    Reye syndrome is a rare illness that can affect the blood, liver, and brain of someone who has recently ... a viral illness, seek medical attention immediately. Reye syndrome can lead to a coma and brain death, ...

  1. 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 ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

  2. Apert syndrome (acrocephalosyndactyly

    Directory of Open Access Journals (Sweden)

    Milovanović J.

    2014-01-01

    Full Text Available Apert syndrome is named for the French physician, Eugen Apert who was, in 1906. described anomalous shape of the skull with coronary suture synostosis and hypoplasia sphenoethmoidmaxillary part of the face and fingers syndactyly of hands and feet. Apert syndrome accounts for about 4,5% of all craniosynostosis. With the prevalence of 1:160 000-200 000, inherited in an autosomal domi­nant, and in 25% of cases are fresh mutations in the gene. This syndrome has no predilection by gender and race, varies in severity form in witch it is manifested. Anomality of internal organs are very rare, but half of the patients with this syndrome have mental retardation. Apert syndrome has no cure, but surgery can help to correct some of the problems.

  3. Coexistent Brugada Syndrome and Wolff-Parkinson-White Syndrome: What is the Optimal Management?

    Directory of Open Access Journals (Sweden)

    Abhishek Jaiswal, MBBS

    2013-09-01

    Full Text Available Coexistent Brugada syndrome and Wolff-Parkinson-White (WPW syndrome is rare, and as such poses management challenges. The overlap of symptoms attributable to each condition, the timing of ventricular stimulation after accessory pathway ablation and the predictive value of programmed stimulation in Brugada syndrome are controversial. We describe a case of coexistent Brugada syndrome and WPW syndrome in a symptomatic young adult. We discuss our treatment approach and the existing literature along with the challenges in management of such cases.

  4. Cowden syndrome

    Directory of Open Access Journals (Sweden)

    Ravi Prakash S

    2010-01-01

    Full Text Available Cowden syndrome or multiple hamartoma syndrome is an autosomal dominant condition with variable expressions that result mainly from mutation in the PTEN gene on arm 10q. It is characterized by multiple hamartomatous neoplasms of the skin, oral mucosa, gastrointestinal tract, bones, CNS, eyes, and genitourinary tract. Mucocutaneous features include trichilemmomas, oral mucosal papillomatosis, acral keratosis, and palmoplantar keratosis. Here we present a case of Cowden syndrome in a 14-year-old female patient with the chief complaint of multiple oral papillomatous lesions.

  5. Metabolic syndrome and the risk of adverse cardiovascular events after an acute coronary syndrome.

    Science.gov (United States)

    Cavallari, Ilaria; Cannon, Christopher P; Braunwald, Eugene; Goodrich, Erica L; Im, KyungAh; Lukas, Mary Ann; O'Donoghue, Michelle L

    2018-05-01

    Background The incremental prognostic value of assessing the metabolic syndrome has been disputed. Little is known regarding its prognostic value in patients after an acute coronary syndrome. Design and methods The presence of metabolic syndrome (2005 International Diabetes Federation) was assessed at baseline in SOLID-TIMI 52, a trial of patients within 30 days of acute coronary syndrome (median follow-up 2.5 years). The primary endpoint was major coronary events (coronary heart disease death, myocardial infarction or urgent coronary revascularization). Results At baseline, 61.6% ( n = 7537) of patients met the definition of metabolic syndrome, 34.7% (n = 4247) had diabetes and 29.3% had both ( n = 3584). The presence of metabolic syndrome was associated with increased risk of major coronary events (adjusted hazard ratio (adjHR) 1.29, p metabolic syndrome was numerically but not significantly associated with the risk of major coronary events (adjHR 1.13, p = 0.06). Conversely, diabetes was a strong independent predictor of major coronary events in the absence of metabolic syndrome (adjHR 1.57, p metabolic syndrome identified patients at highest risk of adverse outcomes but the incremental value of metabolic syndrome was not significant relative to diabetes alone (adjHR 1.07, p = 0.54). Conclusions After acute coronary syndrome, diabetes is a strong and independent predictor of adverse outcomes. Assessment of the metabolic syndrome provides only marginal incremental value once the presence or absence of diabetes is established.

  6. Cases of Trichohepatoenteric Syndrome (Syndromic Diarrhea with Underlying Crohn’s Disease

    Directory of Open Access Journals (Sweden)

    Е. А. Roslavtseva

    2015-01-01

    Full Text Available Tricho-hepato-enteric syndrome (syndromic, phenotypic diarrhea, SD/THES is a rare inborn disease, which affects bowels. It is caused by the mutation of genes SKIV2L or TTC37. Manifestations include intrauterine hypotrophy, severe chronic diarrhea, which starts in infancy, characteristic facial features and hair growth abnormalities, immune disorders. There are data on two patients dealing with tricho-hepato-enteric syndrome with underlying Crohn’s disease. This is the first description of cases of aggravated tricho-hepatoenteric syndrome ever found in Russian medical literature. 

  7. A new familial intrauterine growth retardation syndrome the "3-M syndrome".

    Science.gov (United States)

    Spranger, J; Opitz, J M; Nourmand, A

    1976-09-01

    Two pairs of siblings are described with proportionate dwarfism due to skeletal hypoplasia of prenatal onset. The head size was normal for age and disproportionately large for height. The patients had a characteristic face different from that seen in the Silver-Russell syndrome. The family data are in accordance with autosomal recessive inheritance. In spite of some similarities, the bulk of clinical and genetic evidence suggests that the described intrauterine growth retardation syndrome is different from the Silver-Russell syndrome and presents an apparently "new" entity which has been designated 3-M syndrome.

  8. Are ECG abnormalities in Noonan syndrome characteristic for the syndrome?

    Science.gov (United States)

    Raaijmakers, R; Noordam, C; Noonan, J A; Croonen, E A; van der Burgt, C J A M; Draaisma, J M T

    2008-12-01

    Of all patients with Noonan syndrome, 50-90% have one or more congenital heart defects. The most frequent occurring are pulmonary stenosis (PS) and hypertrophic cardiomyopathy. The electrocardiogram (ECG) of a patient with Noonan syndrome often shows a characteristic pattern, with a left axis deviation, abnormal R/S ratio over the left precordium, and an abnormal Q wave. The objective of this study was to determine if these ECG characteristics are an independent feature of the Noonan syndrome or if they are related to the congenital heart defect. A cohort study was performed with 118 patients from two university hospitals in the United States and in The Netherlands. All patients were diagnosed with definite Noonan syndrome and had had an ECG and echocardiography. Sixty-nine patients (58%) had characteristic abnormalities of the ECG. In the patient group without a cardiac defect (n = 21), ten patients had a characteristic ECG abnormality. There was no statistical relationship between the presence of a characteristic ECG abnormality and the presence of a cardiac defect (p = 0.33). Patients with hypertrophic cardiomyopathy had more ECG abnormalities in total (p = 0.05), without correlation with a specific ECG abnormality. We conclude that the ECG features in patients with Noonan syndrome are characteristic for the syndrome and are not related to a specific cardiac defect. An ECG is very useful in the diagnosis of Noonan syndrome; every child with a Noonan phenotype should have an ECG and echocardiogram for evaluation.

  9. Brain-hepato-renal syndrome (Zellweger syndrome). Report of two cases and a review of the syndrome

    International Nuclear Information System (INIS)

    Ruiz, T.; Caparros, C.; Blanco, A.; Lopez, A.M.

    1997-01-01

    Cerebro-hepato-renal syndrome is a rare disorder that is transmitted by autosomal recessive inheritance. Children with this syndrome present mongoloid facies and severe muscle hypotonic at birth. Scimitar-like knee calcifications are considered a pathognomonic feature of this disorder. We present two patients with Zellweger syndrome, according to the diagnosis suggested by our Radiodiagnostic Service. Our objective is to stress the importance of the radiological findings, which in many cases are decisive in establishing the definitive diagnosis. (Author) 10 refs

  10. 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.

  11. Skin symptoms in four ectodermal dysplasia syndromes including two case reports of Rapp-Hodgkin-Syndrome.

    Science.gov (United States)

    Knaudt, Björn; Volz, Thomas; Krug, Markus; Burgdorf, Walter; Röcken, Martin; Berneburg, Mark

    2012-01-01

    The skin, hair and nail changes in four distinct ectodermal dysplasia syndromes are compared and reviewed. These syndromes comprise Christ-Siemens-Touraine syndrome; ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome; ankyloblepharon-ectodermal defects-cleft lip/palate syndrome and Rapp-Hodgkin syndrome. A comprehensive overview of the dermatological signs and symptoms in these syndromes was generated from the database of the Ectodermal Dysplasia Network Germany, the clinical findings in the patients seen in our department and an extensive review of the literature. The findings included abnormalities of skin, sweating, hair and nails. These clinical findings are discussed in relation to the underlying molecular defects known to play a role in these four ectodermal dysplasia syndromes.

  12. Postural tachycardia syndrome and other forms of orthostatic intolerance in Ehlers-Danlos syndrome.

    Science.gov (United States)

    Roma, Maria; Marden, Colleen L; De Wandele, Inge; Francomano, Clair A; Rowe, Peter C

    2018-03-05

    To review the association between orthostatic intolerance syndromes and both joint hypermobility and Ehlers-Danlos syndrome, and to propose reasons for identifying hereditary connective tissue disorders in those with orthostatic intolerance in the context of both clinical care and research. We searched the published peer-reviewed medical literature for papers reporting an association between joint hypermobility or Ehlers-Danlos syndrome and orthostatic intolerance. We identified 10 relevant papers. Although methodological variability between studies introduces some limitations, the published literature consistently identifies a significantly higher prevalence of orthostatic intolerance symptoms in patients with joint hypermobility or Ehlers-Danlos syndrome than in healthy controls, and a significantly higher prevalence of cardiovascular and autonomic abnormalities both at rest and during orthostatic challenge. Postural tachycardia syndrome is the most commonly recognized circulatory disorder. The severity of orthostatic symptoms in those with EDS correlates with impairments in quality of life. There is a strong association between several forms of cardiovascular dysfunction, most notably postural tachycardia syndrome, and joint hypermobility or Ehlers-Danlos syndrome. We propose that recognition of joint hypermobility and Ehlers-Danlos syndrome among those with orthostatic intolerance syndromes has the potential to improve clinical care and the validity of research findings. Copyright © 2018 Elsevier B.V. All rights reserved.

  13. Gardner's syndrome

    International Nuclear Information System (INIS)

    Sobrado Junior, C.W.; Bresser, A.; Cerri, G.G.; Habr-Gama, A.; Pinotti, H.W.; Magalhaes, A.

    1988-01-01

    A case of familiar poliposis of colon related to a right mandibular osteoma is reported (this association is usually called Gardner's syndrome). Radiologic pictures ae shown and some commentaries about this syndrome concerning the treatment are made. (author) [pt

  14. Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.

    Science.gov (United States)

    Busa, Tiffany; Jeraiby, Mohammed; Clémenson, Alix; Manouvrier, Sylvie; Granados, Viviana; Philip, Nicole; Touraine, Renaud

    2017-11-01

    CHAND syndrome is an autosomal recessive disorder characterized by curly hair, ankyloblepharon, and nail dysplasia. Only few patients were reported to date. A homozygous RIPK4 mutation was recently identified by homozygosity mapping and whole exome sequencing in three patients from an expanded consanguineous kindred with a clinical diagnosis of CHAND syndrome. RIPK4 was previously known to be implicated in Bartsocas-Papas syndrome, the autosomal recessive form of popliteal pterygium syndrome. We report here two cases of RIPK4 homozygous mutations in a fetus with severe Bartsocas-Papas syndrome and a patient with CHAND syndrome. The patient with CHAND syndrome harbored the same mutation as the one identified in the family previously reported. We thus confirm the implication of RIPK4 gene in CHAND syndrome in addition to Bartsocas-Papas syndrome and discuss genotype/phenotype correlations. © 2017 Wiley Periodicals, Inc.

  15. Drug treatment of metabolic syndrome.

    Science.gov (United States)

    Altabas, Velimir

    2013-08-01

    The metabolic syndrome is a constellation of risk factors for cardiovascular diseases including: abdominal obesity, a decreased ability to metabolize glucose (increased blood glucose levels and/or presence of insulin resistance), dyslipidemia, and hypertension. Patients who have developed this syndrome have been shown to be at an increased risk of developing cardiovascular disease and/or type 2 diabetes. Genetic factors and the environment both are important in the development of the metabolic syndrome, influencing all single components of this syndrome. The goals of therapy are to treat the underlying cause of the syndrome, to reduce morbidity, and to prevent complications, including premature death. Lifestyle modification is the preferred first-step treatment of the metabolic syndrome. There is no single effective drug treatment affecting all components of the syndrome equally known yet. However, each component of metabolic syndrome has independent goals to be achieved, so miscellaneous types of drugs are used in the treatment of this syndrome, including weight losing drugs, antidiabetics, antihypertensives, antilipemic and anticlothing drugs etc. This article provides a brief insight into contemporary drug treatment of components the metabolic syndrome.

  16. 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…

  17. Neonatal bartter syndrome

    International Nuclear Information System (INIS)

    Parkash, J.; Salat, S. M.; Khan, I.A.

    2006-01-01

    A pre-term baby girl was born following a pregnancy complicated by severe polyhydramnios at a gestational age of 36 weeks. She was initially suffering from respiratory distress consistent with idiopathic respiratory distress syndrome, and altered electrolyte imbalance with hyponatremia, hypokalemia and hypochloremic metabolic alkalosis. However, during the third week of life when she had dehydration along with significant electrolyte imbalance, Bartter's syndrome was considered which was supported by findings of high renin and aldosterone levels. Treatment was done by correction of electrolytes and dehydration along with indomethacin. The drug was well tolerated. The infant showed correction of electrolyte imbalance. The features of this case suggest an extreme form of Bartter's syndrome presenting from the early days of life. The syndrome is reported because of it's rarity and alerts pediatricians to the antenatal and neonatal variant of Bartter's syndrome. (author)

  18. Kallmann syndrome and ichthyosis: a case of contiguous gene deletion syndrome

    Directory of Open Access Journals (Sweden)

    Irene Berges-Raso

    2017-09-01

    Full Text Available Kallmann syndrome is a genetically heterogeneous form of hypogonadotropic hypogonadism caused by gonadotropin-releasing hormone deficiency and characterized by anosmia or hyposmia due to hypoplasia of the olfactory bulbs; osteoporosis and metabolic syndrome can develop due to longstanding untreated hypogonadism. Kallmann syndrome affects 1 in 10 000 men and 1 in 50 000 women. Defects in 17 genes, including KAL1, have been implicated. Kallmann syndrome can be associated with X-linked ichthyosis, a skin disorder characterized by early onset dark, dry, irregular scales affecting the limb and trunk, caused by a defect of the steroid sulfatase gene (STS. Both KAL1 and STS are located in the Xp22.3 region; therefore, deletions in this region cause a contiguous gene syndrome. We report the case of a 32-year-old man with ichthyosis referred for evaluation of excessive height (2.07 m and weight (BMI: 29.6 kg/m2, microgenitalia and absence of secondary sex characteristics. We diagnosed Kallmann syndrome with ichthyosis due to a deletion in Xp22.3, a rare phenomenon.

  19. Neonatal respiratory distress syndrome

    Science.gov (United States)

    Hyaline membrane disease (HMD); Infant respiratory distress syndrome; Respiratory distress syndrome in infants; RDS - infants ... improves slowly after that. Some infants with severe respiratory distress syndrome will die. This most often occurs ...

  20. Dress syndrome with sepsis, acute respiratory distress syndrome and pneumomediastinum

    Directory of Open Access Journals (Sweden)

    Prabhas Prasun Giri

    2011-01-01

    Full Text Available Drug rash with eosinophilia and systemic symptoms (DRESS syndrome reflects a serious hypersensitivity reaction to drugs, and is characterized by skin rash, fever, lymph node enlargement, and internal organ involvement. So far, numerous drugs such as sulfonamides, phenobarbital, sulfasalazine, carbamazepine, and phenytoin have been reported to cause DRESS syndrome. We report a case of a 10-year-old girl who developed clinical manifestations of fever, rash, lymphadenopathy, hypereosinophilia, and visceral involvement (hepatitis and pneumonitis after taking phenobarbital for seizures, with subsequent development of sepsis, acute respiratory distress syndrome (ARDS and spontaneous air leak syndrome (pnemothorax and pneumomediastinum. She was put on steroids and various antibiotics and was ventilated, but ultimately succumbed to sepsis and pulmonary complications.

  1. MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome

    Directory of Open Access Journals (Sweden)

    Sheetal Sharda

    2011-01-01

    Full Text Available There are multiple genetic disorders with known or unknown etiology grouped under obesity syndromes. Inspite of having multisystem involvement and often having a characteristic presentation, the understanding of the genetic causes in the majority of these syndromes is still lacking. The common obesity syndromes are Bardet-Biedl, Prader-Willi, Alstrom, Albright's hereditary osteodystrophy, Carpenter, Rubinstein-Taybi, Fragile X, and Börjeson-Forssman-Lehman syndrome. The list is ever increasing as new syndromes are being added to it. One of the recent additions is MOMO syndrome, with about five such cases being reported in literature. Expanding the spectrum of clinical features, we report the first case of MOMO syndrome from India with lobar variant of holoprosencephaly and cryptorchidism, which have not been reported previously.

  2. Duane retraction syndrome type 1 with Usher syndrome type 2: an unreported association.

    Science.gov (United States)

    Khurana, Bhawna Piplani; Khurana, Aruj Kumar; Grover, Sumit

    2015-05-07

    Duane retraction syndrome is characterized by globe retraction and palpebral fissure narrowing on adduction, with restriction of abduction, adduction, or both. Usher syndrome type 2 consists of congenital bilateral sensorineural hearing loss and retinitis pigmentosa. The authors present a case with a yet unreported association between Duane retraction syndrome type 1 and Usher syndrome type 2. Copyright 2015, SLACK Incorporated.

  3. Rare case of nephrotic syndrome: Schimke syndrome.

    Science.gov (United States)

    Pedrosa, Anna Kelly Krislane de Vasconcelos; Torres, Luiz Fernando Oliveira; Silva, Ana Corina Brainer Amorim da; Dantas, Adrianna Barros Leal; Zuntini, Káthia Liliane da Cunha Ribeiro; Aguiar, Lia Cordeiro Bastos

    2016-01-01

    Schimke syndrome corresponds to dysplasia of bone and immunity, associated with progressive renal disease secondary to nephrotic syndrome cortico-resistant, with possible other abnormalities such as hypothyroidism and blond marrow aplasia. It is a rare genetic disorder, with few reports in the literature. The most frequent renal involvement is nephrotic syndrome with focal segmental glomerulosclerosis and progressive renal failure. The objective of this study was to report a case of Schimke syndrome, diagnostic investigation and management of the case. Resumo A síndrome Schimke corresponde à displasia imuno-óssea, associada à doença renal progressiva secundária à síndrome nefrótica córtico-resistente, podendo haver outras anormalidades como hipotireoidismo e aplasia de medula óssea. Trata-se de uma patologia genética rara, com poucos relatos na literatura. O acometimento renal mais frequente é uma síndrome nefrótica por glomeruloesclerose segmentar e focal e falência renal progressiva. O objetivo deste estudo foi relatar um caso de síndrome de Schimke, investigação diagnóstica e condução do caso.

  4. Gorlin-goltz syndrome

    International Nuclear Information System (INIS)

    Ahmed, N.; Salman, M.; Mansoor, M.A.

    2007-01-01

    Multiple jaw cysts are a characteristic manifestation of basal cell nevus (Gorlin) syndrome. Gorlin-Goltz syndrome is characterized by symptoms primarily involving the skin, central nervous system, and skeletal system. In 90% of the patients, nevoid basal cell carcinoma syndrome is associated with recurring odontogenic keratocysts. This patient showed recurrent jaw and maxillary cysts, for which he was followed for 2 years. (author)

  5. Cardio-renal syndrome

    OpenAIRE

    Gnanaraj, Joseph; Radhakrishnan, Jai

    2016-01-01

    Cardio-renal syndrome is a commonly encountered problem in clinical practice. Its pathogenesis is not fully understood. The purpose of this article is to highlight the interaction between the cardiovascular system and the renal system and how their interaction results in the complex syndrome of cardio-renal dysfunction. Additionally, we outline the available therapeutic strategies to manage this complex syndrome.

  6. Tourette Syndrome

    Science.gov (United States)

    If you have Tourette syndrome, you make unusual movements or sounds, called tics. You have little or no control over them. Common tics are throat- ... spin, or, rarely, blurt out swear words. Tourette syndrome is a disorder of the nervous system. It ...

  7. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine; Bødtger, Uffe; Heltberg, Ole

    2014-01-01

    Lemierre's syndrome is an often un-diagnosed disease seen in previously healthy young subjects, presenting with symptoms of pharyngitis, fever and elevated markers of inflammation. The syndrome is characterised by infectious thrombosis of the jugular vein due to infection with Fusobacteria, causing...

  8. Sleep overlap syndrome

    Directory of Open Access Journals (Sweden)

    Fariba Rezaeetalab

    2016-12-01

    Full Text Available Overlap syndrome, which is known as the coexistence of chronic obstructive pulmonary disease (COPD and obstructive sleep apnea (OSA, was first defined by Flenley. Although it can refer to concomitant occurrence of any of the pulmonary diseases and OSA, overlap syndrome is commonly considered as the coexistence of OSA and COPD. This disease has unique adverse health consequences distinct from either condition alone. Given the high prevalence of each solitary disease, overlap syndrome is also likely to be common and clinically relevant. Despite the fact that overlap syndrome has been described in the literature for nearly 30 years, paucity of evaluations and studies limited the discussion on diagnosis, prevalence, pathophysiology, treatment, and outcomes of this disease. This review article addresses these issues by reviewing several recent studies conducted in Iran or other countries. This review suggests that overlap syndrome has worse outcomes than either disease alone. Our findings accentuated the urgent need for further studies on overlap syndrome and all overlaps between OSA and chronic pulmonary disease to provide a deeper insight into diagnosis and non-invasive treatments of this disease.

  9. What Causes Cushing's Syndrome?

    Science.gov (United States)

    ... Share Facebook Twitter Pinterest Email Print What causes Cushing syndrome? Cushing syndrome can develop for two reasons: Medication ... uhs ), thyroid, or thymus How Tumors Can Cause Cushing Syndrome Normally, the pituitary gland in the brain controls ...

  10. [The refeeding syndrome].

    Science.gov (United States)

    Lambers, Wietske M; Kraaijenbrink, Bastiaan; Siegert, Carl E H

    2015-01-01

    The refeeding syndrome may occur during reintroduction of carbohydrates in malnourished patients. This syndrome is characterized by reduced plasma electrolyte levels, hypophosphataemia being most prevalent. The symptoms can vary from minor symptoms to severe neurological or cardiac symptoms. The pathophysiological mechanism comprises an increase in insulin levels, resulting in shifts of phosphate, potassium and magnesium into the intracellular environment, as well as fluid retention and relative deficiency of vitamin B1. There is growing interest in the screening and treatment of patients with malnutrition, due to which the incidence of refeeding syndrome is probably increasing. Currently, there is no single definition of this syndrome and therefore there is no solid scientific basis for screening and treatment. In this article we describe the rationale for screening and additional laboratory investigations. A prospective, controlled trial is important to define the clinical relevance of the refeeding syndrome and optimize its treatment.

  11. Subclinical nephritic syndrome in children cohabiting with pediatric patients, Presenting acute nephritic syndrome

    OpenAIRE

    Guerrero-Tinoco Gustavo Adolfo; Julio-Barrios Emil

    2012-01-01

    Introduction: subclinical nephritic syndrome is the presence of hematuria, hypocomplementemiaand/or proteinuria without the presence of signs and/or symptoms.Objective: to determine the incidence of subclinical nephritic syndrome in childrenliving with pediatric patients diagnosed with acute nephritic syndrome.Methods: family visit to identify children living together in the two previous months, with pediatric patients hospitalized with acute nephritic syndrome, at Hospital InfantilNapoleon F...

  12. Relationships among personality traits, metabolic syndrome, and metabolic syndrome scores: The Kakegawa cohort study.

    Science.gov (United States)

    Ohseto, Hisashi; Ishikuro, Mami; Kikuya, Masahiro; Obara, Taku; Igarashi, Yuko; Takahashi, Satomi; Kikuchi, Daisuke; Shigihara, Michiko; Yamanaka, Chizuru; Miyashita, Masako; Mizuno, Satoshi; Nagai, Masato; Matsubara, Hiroko; Sato, Yuki; Metoki, Hirohito; Tachibana, Hirofumi; Maeda-Yamamoto, Mari; Kuriyama, Shinichi

    2018-04-01

    Metabolic syndrome and the presence of metabolic syndrome components are risk factors for cardiovascular disease (CVD). However, the association between personality traits and metabolic syndrome remains controversial, and few studies have been conducted in East Asian populations. We measured personality traits using the Japanese version of the Eysenck Personality Questionnaire (Revised Short Form) and five metabolic syndrome components-elevated waist circumference, elevated triglycerides, reduced high-density lipoprotein cholesterol, elevated blood pressure, and elevated fasting glucose-in 1322 participants aged 51.1±12.7years old from Kakegawa city, Japan. Metabolic syndrome score (MS score) was defined as the number of metabolic syndrome components present, and metabolic syndrome as having the MS score of 3 or higher. We performed multiple logistic regression analyses to examine the relationship between personality traits and metabolic syndrome components and multiple regression analyses to examine the relationship between personality traits and MS scores adjusted for age, sex, education, income, smoking status, alcohol use, and family history of CVD and diabetes mellitus. We also examine the relationship between personality traits and metabolic syndrome presence by multiple logistic regression analyses. "Extraversion" scores were higher in those with metabolic syndrome components (elevated waist circumference: P=0.001; elevated triglycerides: P=0.01; elevated blood pressure: P=0.004; elevated fasting glucose: P=0.002). "Extraversion" was associated with the MS score (coefficient=0.12, P=0.0003). No personality trait was significantly associated with the presence of metabolic syndrome. Higher "extraversion" scores were related to higher MS scores, but no personality trait was significantly associated with the presence of metabolic syndrome. Copyright © 2018 Elsevier Inc. All rights reserved.

  13. SNEDDON’S SYNDROME

    Directory of Open Access Journals (Sweden)

    Valentin Valtchev

    2008-10-01

    Full Text Available Sneddon’s syndrome is usually characterized by the association of an ischemic cerebrovascular disease and a widespread livedo reticularis. The incidence of Sneddon syndrome is 4/1000 000. We present 42-year-old woman with livedo reticularis, recurrence ischaemic cerebrovascular accidents, two repetitive miscarriages and positive anti-2GPi antibodies. Skin biopsy specimens reveal inflammatory changes of small- to medium-sized arteries and subendothelial proliferation and fibrosis. The diagnosis Sneddon syndrome is confirmed by skin biopsy, and MR evidence. We suggest that anti-2GPi antibodies may be pathophysiologically related to the clinical manifestation observed in some patients with Sneddon syndrome.

  14. 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.

  15. The ``eco-syndrome`` and what causes it; Das Oeko-Syndrom`` und seine Ausloeser

    Energy Technology Data Exchange (ETDEWEB)

    Voack, C. [Technische Univ. Muenchen (Germany). Klinik und Poliklinik fuer Dermatolologie und Allergologie; Borelli, S. [Technische Univ. Muenchen (Germany). Klinik und Poliklinik fuer Dermatolologie und Allergologie; Ring, J. [Technische Univ. Muenchen (Germany). Klinik und Poliklinik fuer Dermatolologie und Allergologie

    1997-01-24

    Headache, tiredness, skin irritation etc. may be the results of adverse effects on health due to toxic substances in residential buildings and at workplaces. Possible causes of syndromes that are hard to objectify but associated with serious afflictions such as the ``eco-syndrome`` or Multiple Chemical Sensitivity (MCS) and the Sick Building Syndrome (SBS) are listed. (VHE) [Deutsch] Bei Kopfschmerzen, Muedigkeit, Hautirritationen u.ae. besteht die Moeglichkeit einer gesundheitlichen Beeintraechtigung durch Schadstoff im Wohn- oder Arbeitsbereich. Moegliche Ausloeser fuer schwer objektivierbare, aber mit hohem Leidensdruck verbundene Krankheitsbilder wie Oeko-Syndrom(Multiple Chemical Sensivity, MCS) und SBS (Sick-Building-Syndrom) werden aufgelistet. (VHE)

  16. [Williams-Beuren syndrome (Williams syndrome). Case report].

    Science.gov (United States)

    Miklós, Györgyi; Fekete, György; Haltrich, Irén; Tóth, Miklós; Reismann, Péter

    2017-11-01

    Williams syndrome is a rare genetic disorder, that occurs equally in all ethnic groups and both sexes. The diagnosis might be missed during childhood in mild cases. However, establishing the diagnosis is important, not only to find the cause of intellectual disability but to look for cardiovascular, endocrine, psychiatry, urology and other conditions, which can occur at any age in the patients' lifetime. This case report presents the story of 47-year-old woman, who was admitted with haematemesis. During her stay on the ward, in the light of the distinctive facial features, mental retardation, and social behaviour patterns, the possibility of Williams syndrome emerged. Later, the diagnosis was confirmed by genetic analysis. This female is the oldest living patient with Williams syndrome in Hungary. Orv Hetil. 2017; 158(47): 1883-1888.

  17. The association between the metabolic syndrome and metabolic syndrome score and pulmonary function in non-smoking adults.

    Science.gov (United States)

    Yoon, Hyun; Gi, Mi Young; Cha, Ju Ae; Yoo, Chan Uk; Park, Sang Muk

    2018-03-01

    This study assessed the association of metabolic syndrome and metabolic syndrome score with the predicted forced vital capacity and predicted forced expiratory volume in 1 s (predicted forced expiratory volume in 1 s) values in Korean non-smoking adults. We analysed data obtained from 6684 adults during the 2013-2015 Korean National Health and Nutrition Examination Survey. After adjustment for related variables, metabolic syndrome ( p metabolic syndrome score ( p metabolic syndrome score with metabolic syndrome score 0 as a reference group showed no significance for metabolic syndrome score 1 [1.061 (95% confidence interval, 0.755-1.490)] and metabolic syndrome score 2 [1.247 (95% confidence interval, 0.890-1.747)], but showed significant for metabolic syndrome score 3 [1.433 (95% confidence interval, 1.010-2.033)] and metabolic syndrome score ⩾ 4 [1.760 (95% confidence interval, 1.216-2.550)]. In addition, the odds ratio of restrictive pulmonary disease of the metabolic syndrome [1.360 (95% confidence interval, 1.118-1.655)] was significantly higher than those of non-metabolic syndrome. Metabolic syndrome and metabolic syndrome score were inversely associated with the predicted forced vital capacity and forced expiratory volume in 1 s values in Korean non-smoking adults. In addition, metabolic syndrome and metabolic syndrome score were positively associated with the restrictive pulmonary disease.

  18. Cross Syndrome Comparison of Sleep Problems in Children with Down Syndrome and Williams Syndrome

    Science.gov (United States)

    Ashworth, Anna; Hill, Catherine M.; Karmiloff-Smith, Annette; Dimitriou, Dagmara

    2013-01-01

    Based on previous findings of frequent sleep problems in children with Down syndrome (DS) and Williams syndrome (WS), the present study aimed to expand our knowledge by using parent report and actigraphy to define sleep problems more precisely in these groups. Twenty-two school-aged children with DS, 24 with WS and 52 typically developing (TD)…

  19. Goldenhar syndrome

    Directory of Open Access Journals (Sweden)

    Neeraj Sharma

    2013-01-01

    Full Text Available Goldenhar syndrome is a syndrome of complex structures developing from first and second branchial arches during blastogenesis. The etiology of this rare disease is not fully understood, as it has shown itself variable genetically and of unclear causes. The disorder is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. Here we present a unique case of Goldenhar syndrome with absence of left condyle, hypoplasia of the zygomatic bone, no pneumatization of the mastoid process, underdeveloped mandible, bifid tongue and the skin tags in the preauricular area.

  20. [Neurobiology of Tourette Syndrome].

    Science.gov (United States)

    Ünal, Dilek; Akdemir, Devrim

    2016-01-01

    Tourette Syndrome (TS) is a neurodevelopmental disorder characterized by chronic motor and vocal tics. Although it is a common disorder in childhood, the etiology of Tourette Syndrome has not been fully elucidated yet. Studies, -conducted so far- have revealed differences in neurobiological structures of individuals who suffer from Tourette Syndrome. The objective of this review is to assess etiological and pathophysiological studies in the Tourette Syndrome literature. An electronical search was conducted in PubMed database using the keywords tic disorders, Tourette Syndrome, neurobiology, genetics, neuroimaging and animal models. Research and review studies published between 1985 and 2015, with a selection preference towards recent publications, were reviewed. According to the studies, genetic predisposition hypothesis is considered as a priority. However, a precise genetic disorder associated with Tourette Syndrome has not been found. The evidence from postmortem and neuroimaging studies in heterogenous patient groups and animal studies supports the pathological involvement of cortico-striato-thalamo-cortical (CSTC) circuits in Tourette Syndrome. Consequently, the most emphasized hypothesis in the pathophysiology is the dopaminergic dysfunction in these circuits. Furthermore, these findings of the animal, postmortem and neuroimaging studies have confirmed the neurodevelopmental hypothesis of Tourette Syndrome. In conclusion, more studies are needed to understand the etiology of the disorder. The data obtained from neurobiological studies of the disorder will not only shed light on the way of Tourette Syndrome, but also guide studies on its treatment options.

  1. Genetics Home Reference: Gorlin syndrome

    Science.gov (United States)

    ... for This Condition basal cell nevus syndrome BCNS Gorlin-Goltz syndrome NBCCS nevoid basal cell carcinoma syndrome Related Information ... named? Additional Information & Resources MedlinePlus (2 links) Encyclopedia: Basal Cell Nevus Syndrome Health Topic: Skin Cancer Genetic and Rare Diseases ...

  2. Genetics Home Reference: Rett syndrome

    Science.gov (United States)

    ... Genetic Testing Registry: Rett syndrome Other Diagnosis and Management Resources (4 links) Boston Children's Hospital GeneReview: MECP2-Related Disorders MedlinePlus Encyclopedia: Rett Syndrome RettSyndrome.org: Rett Syndrome Clinics General Information from MedlinePlus (5 links) Diagnostic Tests ...

  3. Yap is required for ependymal integrity and is suppressed in LPA-induced hydrocephalus

    Science.gov (United States)

    Park, Raehee; Moon, Uk Yeol; Park, Jun Young; Hughes, Lucinda J.; Johnson, Randy L.; Cho, Seo-Hee; Kim, Seonhee

    2016-01-01

    Timely generation and normal maturation of ependymal cells along the aqueduct are critical for preventing physical blockage between the third and fourth ventricles and the development of fetal non-communicating hydrocephalus. Our study identifies Yap, the downstream effector of the evolutionarily conserved Hippo pathway, as a central regulator for generating developmentally controlled ependymal cells along the ventricular lining of the aqueduct. Yap function is necessary for proper proliferation of progenitors and apical attachment of ependymal precursor cells. Importantly, an injury signal initiated by lysophosphatidic acid (LPA), an upstream regulator of Yap that can cause fetal haemorrhagic hydrocephalus, deregulates Yap in the developing aqueduct. LPA exposure leads to the loss of N-cadherin concentrations at the apical endfeet, which can be partially restored by forced Yap expression and more efficiently by phosphomimetic Yap. These results reveal a novel function of Yap in retaining tissue junctions during normal development and after fetal brain injury. PMID:26754915

  4. [Menopause and metabolic syndrome].

    Science.gov (United States)

    Meirelles, Ricardo M R

    2014-03-01

    The incidence of cardiovascular disease increases considerably after the menopause. One reason for the increased cardiovascular risk seems to be determined by metabolic syndrome, in which all components (visceral obesity, dyslipidemia, hypertension, and glucose metabolism disorder) are associated with higher incidence of coronary artery disease. After menopause, metabolic syndrome is more prevalent than in premenopausal women, and may plays an important role in the occurrence of myocardial infarction and other atherosclerotic and cardiovascular morbidities. Obesity, an essential component of the metabolic syndrome, is also associated with increased incidence of breast, endometrial, bowel, esophagus, and kidney cancer. The treatment of metabolic syndrome is based on the change in lifestyle and, when necessary, the use of medication directed to its components. In the presence of symptoms of the climacteric syndrome, hormonal therapy, when indicated, will also contribute to the improvement of the metabolic syndrome.

  5. DRESS syndrome with thrombotic microangiopathy revealing a Noonan syndrome

    Science.gov (United States)

    Bobot, Mickaël; Coen, Matteo; Simon, Clémentine; Daniel, Laurent; Habib, Gilbert; Serratrice, Jacques

    2018-01-01

    Abstract Rationale: The life-threatening drug rash with eosinophilia and systemic symptoms (DRESS) syndrome occurs most commonly after exposure to drugs, clinical features mimic those found with other serious systemic disorders. It is rarely associated with thrombotic microangiopathy. Patient concerns: We describe the unique case of a 44-year-old man who simultaneously experienced DRESS syndrome with thrombotic microangiopathy (TMA) after a 5 days treatment with fluindione. Diagnoses: Clinical evaluation leads to the discovery of an underlying lymphangiomatosis, due to a Noonan syndrome. Intervetions: The anticoagulant was withdrawn, and corticosteroids (1 mg/kg/day) and acenocoumarol were started. Outcomes: Clinical improvement ensued. At follow-up the patient is well. Lessons: The association of DRESS with TMA is a rare condition; we believe that the presence of the underlying Noonan syndrome could have been the trigger. Moreover, we speculate about the potential interrelations between these entities. PMID:29642153

  6. A Cross-Syndrome Study of the Development of Holistic Face Recognition in Children with Autism, Down Syndrome, and Williams Syndrome

    Science.gov (United States)

    Annaz, Dagmara; Karmiloff-Smith, Annette; Johnson, Mark H.; Thomas, Michael S. C.

    2009-01-01

    We report a cross-syndrome comparison of the development of holistic processing in face recognition in school-aged children with developmental disorders: autism, Down syndrome, and Williams syndrome. The autism group was split into two groups: one with high-functioning children and one with low-functioning children. The latter group has rarely…

  7. Clinical update on metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Juan Diego Hernández-Camacho

    2017-12-01

    Full Text Available Metabolic syndrome has been defined as a global issue since it affects a lot of people. Numerous factors are involved in metabolic syndrome development. It has been described that metabolic syndrome has negative consequences on health. Consequently, a lot of treatments have been proposed to palliate it such as drugs, surgery or life style changes where nutritional habits have shown to be an important point in its management. The current study reviews the literature existing about the actual epidemiology of metabolic syndrome, the components involucrate in its appearance and progression, the clinical consequences of metabolic syndrome and the nutritional strategies reported in its remission. A bibliographic search in PubMed and Medline was performed to identify eligible studies. Authors obtained that metabolic syndrome is present in population from developed and undeveloped areas in a huge scale. Environmental and genetic elements are involucrate in metabolic syndrome development. Metabolic syndrome exponentially increased risk of cardiovascular disease, some types of cancers, diabetes mellitus type 2, sleep disturbances, etc. Nutritional treatments play a crucial role in metabolic syndrome prevention, treatment and recovery.

  8. Genetics Home Reference: Tourette syndrome

    Science.gov (United States)

    ... and Vocal Tic Disorder Gilles de la Tourette Syndrome Gilles de la Tourette's syndrome GTS TD Tourette Disorder Tourette's Disease TS Related ... Additional Information & Resources MedlinePlus (2 links) Encyclopedia: Gilles de la Tourette syndrome Health Topic: Tourette Syndrome Genetic and Rare Diseases ...

  9. Comparison of metabolic syndrome with growing epidemic syndrome Z in terms of risk factors and gender differences.

    Science.gov (United States)

    Uyar, Meral; Davutoğlu, Vedat; Aydın, Neriman; Filiz, Ayten

    2013-05-01

    The aim of this study is to compare metabolic syndrome with syndrome Z growing epidemic in terms of risk factors, demographic variables, and gender differences in our large cohort at southeastern area in Turkey. Data of patients admitted to sleep clinic in University of Gaziantep from January 2006 to January 2011 were retrospectively evaluated. ATP III and JNC 7 were used for defining metabolic syndrome and hypertension. Data of 761 patients were evaluated. Hypertension, diabetes mellitus, coronary artery disease, pulmonary hypertension, and left ventricular hypertrophy were more common in patients with syndrome Z than in patients without metabolic syndrome. Age, waist/neck circumferences, BMI, triglyceride, glucose, and Epworth sleepiness scale score were detected higher, whereas the minimum oxygen saturation during sleep was lower in patients with syndrome Z. Metabolic syndrome was more common in sleep apneic subjects than in controls (58 versus 30 %). Female sleep apneics showed higher rate of metabolic syndrome than those of males (74 versus 52 %). Hypertension, diabetes mellitus, coronary artery disease, and left ventricular hypertrophy were detected higher in males with syndrome Z than in males without metabolic syndrome. Snoring and excessive daytime sleepiness were detected higher in females with syndrome Z than in females without metabolic syndrome. Systemic/pulmonary hypertension, diabetes mellitus, and left ventricular hypertrophy were more common in females with syndrome Z than in females without metabolic syndrome. Complaints of headache and systemic/pulmonary hypertension were more common among females than males with syndrome Z. Female syndrome Z patients had lower minimum oxygen saturation than male patients with syndrome Z. Metabolic syndrome in sleep apneic patients is more prevalent than in controls. All metabolic syndrome parameters were significantly different among obstructive sleep apneic patients with respect to gender with more severe

  10. Facts about Down Syndrome

    Science.gov (United States)

    ... monitor children with Down syndrome for these conditions. Treatments Down syndrome is a lifelong condition. Services early in life ... of these services focus on helping children with Down syndrome develop to their ... therapy, and they are typically offered through early intervention ...

  11. LEOPARD-syndrom

    DEFF Research Database (Denmark)

    Hansen, Lars Kjaersgård; Risby, Kirsten; Bygum, Anette

    2009-01-01

    We describe a 12-year-old boy with a typical phenotype of the LEOPARD syndrome (LS). The diagnosis was confirmed in the boy and his mother, who both had a mutation in the PTPN11 gene at Thr468Met (c.1403C > T). Several other members of the maternal family are suspected also to have the LEOPARD sy...... syndrome. We discuss the clinical characteristics of LS, the need for follow-up and genetic counselling, and the molecular-genetic background as well as the relationship to the allelic disease Noonan syndrome. Udgivelsesdato: 2009-Jan-26......We describe a 12-year-old boy with a typical phenotype of the LEOPARD syndrome (LS). The diagnosis was confirmed in the boy and his mother, who both had a mutation in the PTPN11 gene at Thr468Met (c.1403C > T). Several other members of the maternal family are suspected also to have the LEOPARD...

  12. [Refeeding syndrome].

    Science.gov (United States)

    Ševela, Stanislav; Novák, František; Kazda, Antonín; Brodská, Helena

    Despite being known more than 60 years, refeeding syndrome (RS) still bears many uncertainties. For example, its definition is not clear and definite, and the attitude to it varies from the complete neglect to over-prevention.The term "refeeding syndrome" refers to electrolyte and metabolic changes occurring in malnourished patients after the readministration of nutrition. These changes concern especially to phosphates and ions. Potassium, magnesium, naturism and fluids balance are involved. The changes lead to cell energetic metabolism and electric potential disturbances, with related clinical symptoms.Fully developed refeeding syndrome is quite rare; nevertheless it can be fatal for the patient. However, even its development can lead to many complications increasing the patient's morbidity and the length of stay in the hospital. Yet the refeeding syndrome is more or less predictable and if kept in mind also preventable.The aim of this article is to get the reader to know more about this metabolic phenomenon and possible attitudes towards it.

  13. Efficacy of syndromic management measured as symptomatic improvement in females with vaginal discharge syndrome.

    Science.gov (United States)

    Chauhan, Vidyalaxmi; Shah, Maitri C; Patel, Sangita V; Marfatia, Yogesh S; Zalavadiya, Dhara

    2016-01-01

    In spite of a few shortcomings such as over diagnosis and over treatment, syndromic management is a recommended practice in India for sexually transmitted infections (STIs). This study tries to find out the efficacy of syndromic management measured as symptomatic improvement in females with vaginal discharge syndrome. The objective of the study is to find out the effectiveness of syndromic management in terms of symptomatic improvement among females with vaginal discharge syndrome. A longitudinal study was conducted in Gynecology Department of Tertiary Care Hospital including 180 symptomatic females having vaginal discharge syndrome. Demographic profile, presenting complaints, menstrual history, obstetric history, partner history, and contraceptive history were noted. This was followed by clinical examination and specimen collection for laboratory tests and blood tests to find out type of STI including viral STI such as human immunodeficiency virus (HIV), herpes simplex virus (HSV), and hepatitis B surface antigen (HBsAg). Treatment was given according to syndromic management on the same day. All the participants were asked to come for follow-up after 15 days and their improvement in symptoms was noted as complete improvement, some improvement or no improvement on a five point scale. 63.9% cases showed complete improvement, while 36.1% showed some improvement. None of the patients was without any improvement. Vaginal discharge syndrome was most common between 20 and 30 years (43.4%), and 67.8% of symptomatic females with vaginal discharge syndrome belonged to the lower socioeconomic group. HSV infection was the most common (15%) associated viral infection with vaginal discharge syndrome, while hepatitis B infection was the least common (0.5%). HIV was reactive in 2.8% cases only. Syndromic management was found to be effective in relieving symptoms in most of the cases of vaginal discharge syndrome.

  14. Congenital nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Claudia Fanni

    2014-06-01

    Full Text Available CNS (Congenital nephrotic syndrome is a disorder characterized by the presence of a nephrotic syndrome in the first three months of life. Different pathologies can cause this syndrome. In general, we can distinguish primary forms (sporadic and hereditary and secondary forms (acquired and associated with other syndromes. The most common form is the Finnish CNS (CNF, congenital nephrotic syndrome of the Finnish type, a hereditary form whose name derives from the fact that the highest incidence is described in that country (1.2:10,000. The pathogenesis, the clinical picture, the diagnostic criteria, the therapy and the outcome are described in details.  Proceedings of the International Course on Perinatal Pathology (part of the 10th International Workshop on Neonatology · October 22nd-25th, 2014 · Cagliari (Italy · October 25th, 2014 · The role of the clinical pathological dialogue in problem solving Guest Editors: Gavino Faa, Vassilios Fanos, Peter Van Eyken

  15. Late-Onset Nephrotic Syndrome in Galloway-Mowat Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Hazza Issa

    1999-01-01

    Full Text Available Galloway-Mowat Syndrome (GMS has a wide variety of clinical manifestations and histologic findings. All reported cases had developed nephrotic syndrome in the first two years of life. We report a case of 12 years old boy with microcephaly, mental retardation, and typical dysmorphic features of GMS with a late onset of minimal change nephritic syndrome which first manifested at seven years of age.

  16. Prune belly syndrome in an Egyptian infant with Down syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Metwalley Kotb A

    2008-10-01

    Full Text Available Abstract Introduction Prune belly syndrome is a rare congenital anomaly of uncertain aetiology almost exclusive to males. The association between prune belly syndrome and Down syndrome is very rare. Case presentation A 4-month-old Egyptian boy was admitted to our institute for management of acute bronchiolitis. He was born at full term by normal vaginal delivery. His mother, a 42-year-Egyptian villager with six other children, had no antenatal or prenatal care. On examination, the boy was found to be hypotonic. In addition to features of Down syndrome, karyotyping confirmed the diagnosis of trisomy 21. Ultrasound examination of the abdomen showed bilateral gross hydronephrosis with megaureter. Micturating cystourethrography showed grade V vesicoureteric reflux bilaterally with no urethral obstruction. Serum creatinine concentration was 90 μmol/litre, serum sodium was 132 mmol/litre and serum potassium was 5.9 mmol/litre. Conclusion We report an Egyptian infant with Down syndrome and prune belly syndrome. The incidence of this association is unknown. Routine antenatal ultrasonography will help in discovering renal anomalies which can be followed postnatally. Postnatal detection of prune belly syndrome necessitates full radiological investigation to detect any renal anomalies. Early diagnosis of this syndrome and determining its optimal treatment are very important in helping to avoid its fatal course.

  17. Prune belly syndrome in an Egyptian infant with Down syndrome: a case report.

    Science.gov (United States)

    Metwalley, Kotb A; Farghalley, Hekma S; Abd-Elsayed, Alaa A

    2008-10-02

    Prune belly syndrome is a rare congenital anomaly of uncertain aetiology almost exclusive to males. The association between prune belly syndrome and Down syndrome is very rare. A 4-month-old Egyptian boy was admitted to our institute for management of acute bronchiolitis. He was born at full term by normal vaginal delivery. His mother, a 42-year-Egyptian villager with six other children, had no antenatal or prenatal care. On examination, the boy was found to be hypotonic. In addition to features of Down syndrome, karyotyping confirmed the diagnosis of trisomy 21. Ultrasound examination of the abdomen showed bilateral gross hydronephrosis with megaureter. Micturating cystourethrography showed grade V vesicoureteric reflux bilaterally with no urethral obstruction. Serum creatinine concentration was 90 mumol/litre, serum sodium was 132 mmol/litre and serum potassium was 5.9 mmol/litre. We report an Egyptian infant with Down syndrome and prune belly syndrome. The incidence of this association is unknown. Routine antenatal ultrasonography will help in discovering renal anomalies which can be followed postnatally. Postnatal detection of prune belly syndrome necessitates full radiological investigation to detect any renal anomalies. Early diagnosis of this syndrome and determining its optimal treatment are very important in helping to avoid its fatal course.

  18. Simultaneous Occurrence of Duane Retraction Syndrome with Marfan Syndrome

    Directory of Open Access Journals (Sweden)

    Mihir Kothari

    2011-01-01

    Full Text Available Marfan syndrome (MFS is an autosomal dominant disorder of connective tissue, while Duane retraction syndrome (DRS is a congenital cranial dysinnervation disorder (CCDD which can be transmitted as autosomal dominant disorder in 5–10% of patients. In this paper, we present an 8-year-old girl who presented with left eye DRS and bilateral subluxation of the lens associated with MFS in absence of familial involvement. To our knowledge this is the first case report of DRS with MFS. The occurrence of these syndromes together is very rare and appears to be coincidental.

  19. Naumoff short-rib polydactyly syndrome compounded with Mohr oral-facial-digital syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Young, L.W.; Wilhelm, L.L. [Loma Linda Univ., CA (United States). Medical Center; Zuppan, C.W. [Div. of Pediatric Pathology, Loma Linda University Medical Center, CA (United States); Clark, R. [Div. of Medical Genetics, Loma Linda University Medical Center, CA (United States)

    2001-01-01

    A stillborn baby boy had findings of severe constitutional dwarfism with short limbs, short ribs, and polydactyly that were consistent with Naumoff (type III) short-rib polydactyly syndrome. He also had additional congenital anomalies, including cleft palate, notching of the upper lip, small tongue with accessory sublingual tissue. These oral and pharyngeal anomalies were consistent with Mohr (type II) oral-facial-digital syndrome. We suggest the stillborn infant represented a compound of Naumoff short-rib polydactyly syndrome (SRPS-III) and Mohr oral-facial-digital syndrome (OFDS-II). (orig.)

  20. The Capgras syndrome in paranoid schizophrenia.

    Science.gov (United States)

    Silva, J A; Leong, G B

    1992-01-01

    Capgras syndrome is characterized by a delusion of impostors who are thought to be physically similar but psychologically distinct from the misidentified person. This syndrome is generally thought to be relatively rare. Most of our knowledge about Capgras syndrome derives from single case studies and small series of cases usually from diagnostically heterogeneous groups. In this article, a series of 31 patients suffering from both paranoid schizophrenia and Capgras syndrome is described. Issues pertaining to the phenomenology of Capgras syndrome, the possible relation between Capgras syndrome and other delusional misidentification syndromes, and a neurobiological hypothesis aimed at explaining Capgras syndrome are discussed.

  1. Fahr's Syndrome

    Science.gov (United States)

    ... or 50s, although it can occur at any time in childhood or adolescence. × Definition Fahr's Syndrome is a rare, genetically dominant, inherited ... or 50s, although it can occur at any time in childhood or adolescence. View Full Definition Treatment There is no cure for Fahr's Syndrome, ...

  2. Antiphospholipid syndrome

    DEFF Research Database (Denmark)

    Cervera, Ricard; Piette, Jean-Charles; Font, Josep

    2002-01-01

    To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression.......To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression....

  3. Eagle's Syndrome

    Science.gov (United States)

    Pinheiro, Thaís Gonçalves; Soares, Vítor Yamashiro Rocha; Ferreira, Denise Bastos Lage; Raymundo, Igor Teixeira; Nascimento, Luiz Augusto; Oliveira, Carlos Augusto Costa Pires de

    2013-01-01

    Summary Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is difficult, and it is generally confounded by other manifestations of cervicopharyngeal pain. Objective: To describe a case of Eagle's syndrome. Case Report: A 53-year-old man reported lateral pain in his neck that had been present for 30 years. Computed tomography (CT) of the neck showed elongation and ossification of the styloid processes of the temporal bone, which was compatible with Eagle's syndrome. Surgery was performed for bilateral resection of the stylohyoid ligament by using a transoral and endoscopic access route. The patient continued to present pain laterally in the neck, predominantly on his left side. CT was performed again, which showed elongation of the styloid processes. The patient then underwent lateral cervicotomy with resection of the stylohyoid process, which partially resolved his painful condition. Final Comments: Patients with Eagle's syndrome generally have a history of chronic pain. Appropriate knowledge of this disease is necessary for adequate treatment to be provided. The importance of diagnosing this uncommon and often unsuspected disease should be emphasized, given that correct clinical-surgical treatment is frequently delayed. The diagnosis of Eagle's syndrome is clinical and radiographic, and the definitive treatment in cases of difficult-to-control pain is surgical. PMID:25992033

  4. Eagle's Syndrome

    Directory of Open Access Journals (Sweden)

    Pinheiro, Thaís Gonçalves

    2014-01-01

    Full Text Available Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is difficult, and it is generally confounded by other manifestations of cervicopharyngeal pain. Objective: To describe a case of Eagle's syndrome. Case Report: A 53-year-old man reported lateral pain in his neck that had been present for 30 years. Computed tomography (CT of the neck showed elongation and ossification of the styloid processes of the temporal bone, which was compatible with Eagle's syndrome. Surgery was performed for bilateral resection of the stylohyoid ligament by using a transoral and endoscopic access route. The patient continued to present pain laterally in the neck, predominantly on his left side. CT was performed again, which showed elongation of the styloid processes. The patient then underwent lateral cervicotomy with resection of the stylohyoid process, which partially resolved his painful condition. Final Comments: Patients with Eagle's syndrome generally have a history of chronic pain. Appropriate knowledge of this disease is necessary for adequate treatment to be provided. The importance of diagnosing this uncommon and often unsuspected disease should be emphasized, given that correct clinical-surgical treatment is frequently delayed. The diagnosis of Eagle's syndrome is clinical and radiographic, and the definitive treatment in cases of difficult-to-control pain is surgical.

  5. Review of the refeeding syndrome.

    Science.gov (United States)

    Kraft, Michael D; Btaiche, Imad F; Sacks, Gordon S

    2005-12-01

    Refeeding syndrome describes a constellation of metabolic disturbances that occur as a result of reinstitution of nutrition to patients who are starved or severely malnourished. Patients can develop fluid and electrolyte disorders, especially hypophosphatemia, along with neurologic, pulmonary, cardiac, neuromuscular, and hematologic complications. We reviewed literature on refeeding syndrome and the associated electrolyte abnormalities, fluid disturbances, and associated complications. In addition to assessing scientific literature, we also considered clinical experience and judgment in developing recommendations for prevention and treatment of refeeding syndrome. The most important steps are to identify patients at risk for developing refeeding syndrome, institute nutrition support cautiously, and correct and supplement electrolyte and vitamin deficiencies to avoid refeeding syndrome. We provide suggestions for the prevention of refeeding syndrome and suggestions for treatment of electrolyte disturbances and complications in patients who develop refeeding syndrome, according to evidence in the literature, the pathophysiology of refeeding syndrome, and clinical experience and judgment.

  6. Heterogeneity in Waardenburg syndrome.

    Science.gov (United States)

    Hageman, M J; Delleman, J W

    1977-01-01

    Heterogeneity of Waardenburg syndrome is demonstrated in a review of 1,285 patients from the literature and 34 previously unreported patients in five families in the Netherlands. The syndrome seems to consist of two genetically distinct entities that can be differentiated clinically: type I, Waardenburg syndrome with dystopia canthorum; and type II, Waardenburg syndrome without dystopia canthorum. Both types have an autosomal dominant mode of inheritance. The incidence of bilateral deafness in the two types of the syndrome was found in one-fourth with type I and about half of the patients with type II. This difference has important consequences for genetic counseling. Images Fig. 7 Fig. 8 Fig. 9 PMID:331943

  7. Symptoms and Diagnosis of Metabolic Syndrome

    Science.gov (United States)

    ... Thromboembolism Aortic Aneurysm More Symptoms and Diagnosis of Metabolic Syndrome Updated:Apr 13,2017 What are the symptoms ... Syndrome? This content was last reviewed August 2016. Metabolic Syndrome • Home • About Metabolic Syndrome • Why Metabolic Syndrome Matters • ...

  8. Diagnostik af Dravet syndrom

    DEFF Research Database (Denmark)

    Hansen, Lars Kjaersgård; Rasmussen, Niels Henrik; Ousager, Lilian Bomme

    2010-01-01

    Dravet syndrome is an epileptic syndrome of infancy. We describe the features of two cases with genetically verified SCNA1 mutations. The diagnosis was established rather late in one case. The epilepsies were medically intractable and the symptoms characteristic of Dravet syndrome. The children...

  9. Unsteady-Flow Modeling for Emergency Shutdown of the CAP Canal

    OpenAIRE

    Clemmens, Bert; Wahlin, Brian; Shapiro, Marcus; Dent, Patrick

    2016-01-01

    The Central Arizona Project (CAP) is designed to bring about 1.9 ML of Colorado River water per year to Maricopa, Pima, and Pinal counties in Arizona. CAP carries water from the Colorado River at Lake Havasu toTucson. The CAP canal system is a 540 km long system of conveyance system aqueducts, tunnels, pumping plants,pipelines and a large reservoir (just north of Phoenix, AZ). Water is pumped uphill from the Colorado River. This study was conducted for the Hayden-Rhodes Aqueduct of the Centra...

  10. [Bilateral "crocodile tears syndrome" associated with Melkersson-Rosenthal syndrome--case report].

    Science.gov (United States)

    Owecki, Michał K; Kapelusiak-Pielok, Magdalena; Kowal, Piotr; Kozubski, Wojciech

    2006-01-01

    We present a rare case of bilateral crocodile tears syndrome (CTS) in the course of Melkersson-Rosenthal syndrome. Melkersson-Rosenthal syndrome is characterised by a triad of recurrent orofacial swelling, relapsing facial paralysis, and fissured tongue. The classic triad is infrequent and oligosymptomatic variants are seen more frequently. CTS is a rare complication of facial nerve paralysis characterised by inappropriate lacrimation on the side of the palsy in response to salivary stimuli. It results from aberrant reinnervation of the lacrimal gland by salivary parasympathetic fibres. The therapeutic approach for an acute bout of Melkersson-Rosenthal syndrome consists mainly of steroid administration. CTS management is composed of anticholinergic drugs and surgical procedures. Botulin toxin injection into the lacrimal gland is the most modern therapeutic option. In the case presented CTS developed in a 50-year-old man after 5 incidents of facial palsy due to Melkersson-Rosenthal syndrome. The case deserves attention due to the rarity of the observed symptoms and signs.

  11. Acute nephritic syndrome

    Science.gov (United States)

    Glomerulonephritis - acute; Acute glomerulonephritis; Nephritis syndrome - acute ... Acute nephritic syndrome is often caused by an immune response triggered by an infection or other disease. Common causes in children ...

  12. The impact of autism spectrum disorder symptoms on gesture use in fragile X syndrome and Down syndrome

    Directory of Open Access Journals (Sweden)

    Emily Lorang

    2017-12-01

    Full Text Available Background & aims This study compared gesture rate and purpose in participants with Down syndrome and fragile X syndrome, and the impact of autism spectrum disorder symptoms on each syndrome. Methods Twenty individuals with fragile X syndrome and 20 individuals with Down syndrome between nine and 22 years of age participated in this study. We coded gesture rate and purpose from an autism spectrum disorder evaluation, the Autism Diagnostic Observation Schedule – Second Edition. Results We did not find between-group differences (Down syndrome compared to fragile X syndrome in gesture rate or purpose. Notably, as autism spectrum disorder symptoms increased, the group with Down syndrome produced a lower rate of gestures, but used gestures for the same purpose. Gesture rate did not change based on autism spectrum disorder symptoms in the participants with fragile X syndrome, but as autism spectrum disorder symptoms increased, the participants with fragile X syndrome produced a larger proportion of gestures to regulate behavior and a smaller proportion for joint attention/social interaction. Conclusions Overall, the amount or purpose of gestures did not differentiate individuals with Down syndrome and fragile X syndrome. However, the presence of autism spectrum disorder symptoms had a significant and unique impact on these genetic disorders. In individuals with Down syndrome, the presence of more autism spectrum disorder symptoms resulted in a reduction in the rate of gesturing, but did not change the purpose. However, in fragile X syndrome, the rate of gestures remained the same, but the purpose of those gestures changed based on autism spectrum disorder symptoms. Implications Autism spectrum disorder symptoms differentially impact gestures in Down syndrome and fragile X syndrome. Individuals with Down syndrome and more autism spectrum disorder symptoms are using gestures less frequently. Therefore, clinicians may need to consider children with

  13. Costello syndrome

    Directory of Open Access Journals (Sweden)

    Madhukara J

    2007-01-01

    Full Text Available Costello syndrome is a rare, distinctive, multiple congenital anomaly syndrome, characterized by soft, loose skin with deep palmar and plantar creases, loose joints, distinctive coarse facial features and skeletal and cardiac abnormalities. The affected patients have a predisposition to develop malignancy, developmental delays and mental retardation. Recently, a 7-year-old male child born to normal nonconsanguineous parents presented to us with abnormal facial features, arrhythmia, mitral valve dysfunction and growth retardation. His cutaneous examination revealed lax and pigmented skin over hands and feet with deep creases, acanthosis nigricans and short curly hairs. Its differentiation from other syndromes with similar clinical features is discussed in this article.

  14. Primary Sjögren’s Syndrome with Sensory Ganglionopathy and Painful Legs and Moving Toes Syndrome

    Directory of Open Access Journals (Sweden)

    Mehmet Uğur Çevik

    2014-06-01

    Full Text Available Sjogren’s syndrome is characterized by the sicca syndrome, with dryness of the mouth (xerostomia and the eyes (xerophthalmia. Sjogren's syndrome is the only connective tissue disease that has been associated with sensory neuronopathy. The syndrome of painful legs and moving toes consisting of pain in the lower limbs with spontaneous movements of the toes or feet. The association between Sjogren’s syndrome and painful legs and moving toes syndrome is a rare condition

  15. Psychosomatic syndromes and anorexia nervosa

    Directory of Open Access Journals (Sweden)

    Abbate-Daga Giovanni

    2013-01-01

    Full Text Available Abstract Background In spite of the role of some psychosomatic factors as alexithymia, mood intolerance, and somatization in both pathogenesis and maintenance of anorexia nervosa (AN, few studies have investigated the prevalence of psychosomatic syndromes in AN. The aim of this study was to use the Diagnostic Criteria for Psychosomatic Research (DCPR to assess psychosomatic syndromes in AN and to evaluate if psychosomatic syndromes could identify subgroups of AN patients. Methods 108 AN inpatients (76 AN restricting subtype, AN-R, and 32 AN binge-purging subtype, AN-BP were consecutively recruited and psychosomatic syndromes were diagnosed with the Structured Interview for DCPR. Participants were asked to complete psychometric tests: Body Shape Questionnaire, Beck Depression Inventory, Eating Disorder Inventory–2, and Temperament and Character Inventory. Data were submitted to cluster analysis. Results Illness denial (63% and alexithymia (54.6% resulted to be the most common syndromes in our sample. Cluster analysis identified three groups: moderate psychosomatic group (49%, somatization group (26%, and severe psychosomatic group (25%. The first group was mainly represented by AN-R patients reporting often only illness denial and alexithymia as DCPR syndromes. The second group showed more severe eating and depressive symptomatology and frequently DCPR syndromes of the somatization cluster. Thanatophobia DCPR syndrome was also represented in this group. The third group reported longer duration of illness and DCPR syndromes were highly represented; in particular, all patients were found to show the alexithymia DCPR syndrome. Conclusions These results highlight the need of a deep assessment of psychosomatic syndromes in AN. Psychosomatic syndromes correlated differently with both severity of eating symptomatology and duration of illness: therefore, DCPR could be effective to achieve tailored treatments.

  16. The Marfan syndrome genetics

    Directory of Open Access Journals (Sweden)

    Galina Pungerčič

    2005-05-01

    Full Text Available Background: The Marfan syndrome is an autosomal dominant heritable disorder of connective tissue. It is caused by mutations in the fibrillin-1 gene encoding glycoprotein fibrillin-1, a component of microfibrils of extracellular matrix. Patients with Marfan syndrome show wide spectra of clinical signs, primarily on skeletal, cardiovascular and ocular organ systems. Cardiovascular complications (especially aortic aneurysm and aortic dissection are the most common cause of mortality of Marfan syndrome patients. Discovering genotype-phenotype correlations is complicated because of the large number of mutations reported as well as clinical heterogeneity among individuals with the same mutation. Despite the progress in the knowledge of the molecular nature of Marfan syndrome the diagnosis is still based mainly on the clinical features in the different body systems.Conclusions: Early identification of patient with Marfan syndrome is of considerable importance because of appropriate treatment that can greatly improve life expectancy. Unfortunately, despite the improvement of diagnostic methods, medical and surgical therapy, the mortality due to undiagnosed Marfan syndrome is still high. The present article reviews the molecular genetic studies of Marfan syndrome since the discovery of the mutations in the fibrillin-1 gene.

  17. 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.

  18. Prevalence of dry eye syndrome and Sjogren's syndrome in patients with rheumatoid arthritis.

    Science.gov (United States)

    Kosrirukvongs, Panida; Ngowyutagon, Panotsom; Pusuwan, Pawana; Koolvisoot, Ajchara; Nilganuwong, Surasak

    2012-04-01

    Rheumatoid arthritis has manifestations in various organs including ophthalmic involvement. The present study evaluates prevalence of dry eye and secondary Sjogren's syndrome using salivary scintigraphy which has not been used in previous reports. To evaluate the prevalence of secondary Sjogren's syndrome in patients with rheumatoid arthritis, including clinical characteristics and dry eye, compared with non-Sjogren's syndrome. Descriptive cross sectional study Sixty-one patients with rheumatoid arthritis were recruited at Siriraj Hospital during March 2009-September 2010 and filled in the questionnaires about dry eye for Ocular Surface Disease Index (OSDI) with a history taking of associated diseases, medications, duration of symptoms of dry eyes and dry mouth. The Schirmer I test without anesthesia, tear break-up time, rose bengal staining score, severity of keratitis and salivary scintigraphy were measured and analyzed. Prevalence of secondary Sjogren's syndrome and dry eye were 22.2% (95% CI 15.4 to 30.9) and 46.7% (95% CI 38.0 to 55.6), respectively. Dry eye interpreted from OSDI, Schirmer 1 test, tear break-up time and rose bengal staining was 16.4%, 46.7%, 82% and 3.3% respectively. Fifty-two percent of patients had a history of dry eye and dry mouth with mean duration 27.4 and 29.8 months, respectively. Superficial punctate keratitis and abnormal salivary scintigraphy were found in 58.2% and 77.8%. Duration of rheumatoid arthritis, erythrocyte sedimentation rate were not correlated with secondary Sjogren's syndrome. Dry eye from OSDI with secondary Sjogren's syndrome (33.3%) compared with non-Sjogren's syndrome (9.5%) was significant difference (p = 0.008). Adjusted odds ratio for secondary Sjogren's syndrome in OSDIL score > 25 was 13.8 (95% CI 2.6 to 73.8, p = 0.002) compared to OSDI score dry eye syndrome and secondary Sjogren's syndrome in rheumatoid arthritis was crucial for evaluation of their severity and proper management.

  19. Polycystic Ovary Syndrome FAQ

    Science.gov (United States)

    ... Ovary Syndrome (PCOS) • What are common signs and symptoms of polycystic ovary syndrome (PCOS)? • What causes PCOS? • What is insulin resistance? • ... with PCOS? •Glossary What are common signs and symptoms of polycystic ovary syndrome (PCOS)? Common PCOS signs and symptoms include the ...

  20. [Characteristics of traditional Chinese medicine syndromes in patients with acute ischemic stroke of yin or yang syndrome: a multicenter trial].

    Science.gov (United States)

    You, Jin-song; Huang, Yan; Cai, Ye-feng; Guo, Jian-wen; Liang, Wei-xiong; Huang, Pei-xin; Liu, Mao-cai

    2008-04-01

    To explore the composition characteristics of traditional Chinese medicine (TCM) syndromes in patients with acute ischemic stroke of yin or yang syndrome by investigating the characteristics of TCM syndromes at different periods after onset. One thousand two hundred and forty-six patients with acute ischemic stroke were admitted in twenty hospitals. According to the "diagnostic criteria of syndrome differentiation of stroke", the characteristics of syndromes in the patients were investigated at the periods of 1-3 days, 4-10 days and 11-30 days after they had ischemic stroke. General distribution of six basic syndromes was compared between the patients with yin syndrome and the patients with yang syndrome at the three periods. The six basic syndromes were wind syndrome, pathogenic fire syndrome, phlegm syndrome, blood stasis syndrome, qi deficiency syndrome, and syndrome of yin deficiency and yang hyperactivity. The percentages of wind, pathogenic fire, and phlegm syndromes in the patients were decreased at the period of 11-30 days as compared with the period of 1-3 days (87.1% vs 79.3%, 52.1% vs 38.7% and 67.1% vs 57.4% respectively, P0.05). There were no differences in the distribution of yin and yang syndromes among the three periods (P>0.05). The percentages of syndromes of wind, pathogenic fire, phlegm, and yin deficiency and yang hyperactivity were higher (Pfour or five syndromes were higher, and the percentages of single-syndromes and complex syndromes of two syndromes were lower in patients with yang syndrome than in patients with yin syndrome (P<0.05, P<0.01). The most frequent complex syndromes in patients with yin syndrome were complex syndrome of wind, phlegm, blood stasis and qi deficiency, and complex syndrome of wind, phlegm and qi deficiency; while the most frequent complex syndromes in patients with yang syndrome were complex syndrome of wind, pathogenic fire, phlegm and qi deficiency, and complex syndrome of wind, pathogenic fire and phlegm. The

  1. Pfeiffer syndrome

    Directory of Open Access Journals (Sweden)

    Fryns Jean-Pierre

    2006-06-01

    Full Text Available Abstract Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three clinical subtypes. Type 1 "classic" Pfeiffer syndrome involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities; it is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Clinical overlap between the three types may occur. Pfeiffer syndrome affects about 1 in 100,000 individuals. The disorder can be caused by mutations in the fibroblast growth factor receptor genes FGFR-1 or FGFR-2. Pfeiffer syndrome can be diagnosed prenatally by sonography showing craniosynostosis, hypertelorism with proptosis, and broad thumb, or molecularly if it concerns a recurrence and the causative mutation was found. Molecular genetic testing is important to confirm the diagnosis. Management includes multiple-staged surgery of craniosynostosis. Midfacial surgery is performed to reduce the exophthalmos and the midfacial hypoplasia.

  2. Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome.

    Science.gov (United States)

    Myers, Angela; Bernstein, Jonathan A; Brennan, Marie-Luise; Curry, Cynthia; Esplin, Edward D; Fisher, Jamie; Homeyer, Margaret; Manning, Melanie A; Muller, Eric A; Niemi, Anna-Kaisa; Seaver, Laurie H; Hintz, Susan R; Hudgins, Louanne

    2014-11-01

    The RASopathies are a family of developmental disorders caused by heritable defects of the RAS/MAPK signaling pathway. While the postnatal presentation of this group of disorders is well known, the prenatal and neonatal findings are less widely recognized. We report on the perinatal presentation of 10 patients with Noonan syndrome (NS), nine with Cardiofaciocutaneous syndrome (CFCS) and three with Costello syndrome (CS), in conjunction with the results of a comprehensive literature review. The majority of perinatal findings in NS, CS, and CFCS are shared: polyhydramnios; prematurity; lymphatic dysplasia; macrosomia; relative macrocephaly; respiratory distress; hypotonia, as well as cardiac and renal anomalies. In contrast, fetal arrhythmia and neonatal hypoglycemia are relatively specific to CS. NS, CS, and CFCS should all be considered as a possible diagnosis in pregnancies with a normal karyotype and ultrasound findings of a RASopathy. Recognition of the common perinatal findings of these disorders should facilitate both their prenatal and neonatal diagnosis. © 2014 Wiley Periodicals, Inc.

  3. Mobius syndrome: MRI features

    International Nuclear Information System (INIS)

    Markarian, Maria F.; Villarroel, Gonzalo M.; Nagel, Jorge R.

    2003-01-01

    Purpose: Mobius Syndrome or congenital facial diplegia is associated with paralysis of the lateral gaze movements. This syndrome may include other cranial nerve palsies and be associated to musculoskeletal anomalies. Our objective is to show the MRI findings in Mobius Syndrome. Material and methods: MRI study was performed in 3 patients with clinic diagnosis of Mobius Syndrome. RMI (1.5T); exams included axial FSE (T1 and T2), FLAIR, SE/EPI, GRE/20, sagittal FSE T2 , coronal T1, diffusion, angio MRI and Spectroscopy sequences. Results: The common features of this syndrome found in MRI were: depression or straightening of the floor of the fourth ventricle, brainstem anteroposterior diameter diminution, morphologic alteration of the pons and medulla oblongata and of the hypoglossal nuclei as well as severe micrognathia. Conclusion: The morphologic alterations of Mobius Syndrome can be clearly identified by MRI; this method has proved to be a useful diagnostic examination. (author)

  4. Ramsay Hunt syndrome

    Science.gov (United States)

    Hunt syndrome; Herpes zoster oticus; Geniculate ganglion zoster; Geniculate herpes; Herpetic geniculate ganglionitis ... The varicella-zoster virus that causes Ramsay Hunt syndrome is the same virus that causes chickenpox and ...

  5. [Congenital sensorineural deafness and associated syndromes].

    Science.gov (United States)

    Moatti, L; Garabedian, E N; Lacombe, H; Spir-Jacob, C

    1990-01-01

    The etiology of perceptive deafness, especially the congenital variety, requires investigation. The presence of a variety of signs associated with deafness constitutes an "associated syndrome" and helps to define a possible genetic origin. These syndromes only represent a small percentage of overall causes of deafness in children, since at most they account for only 10% of cases. Certain syndromes are encountered more often or are well known, others are extremely rare or have only been described recently. The authors report six of these very rare syndromes discovered among their patients: a KID syndrome, a Leopard syndrome, a Norrie syndrome, a Jervell and Lange Nielsen syndrome, a recently described entity called CEE with deafness and an External Neuro-Cochleo-Pancreatic syndrome which would not appear to have been previously described.

  6. Ambras syndrome

    Directory of Open Access Journals (Sweden)

    Sudhir Malwade

    2015-01-01

    Full Text Available Ambras syndrome, a form of congenital hypertrichosis lanuginosa, is extremely rare in neonates. It is characterized by typical pattern of hair distribution, dysmorphic facial features and a familial pattern of inheritance. We report a case of Ambras syndrome in a preterm neonate with history of consanguinity and positive family history.

  7. Cushing's syndrome during pregnancy

    NARCIS (Netherlands)

    Mulder, W. J.; Berghout, A.; Wiersinga, W. M.

    1990-01-01

    Two cases of Cushing's syndrome during pregnancy are reported, both due to an adrenal adenoma. The association of pregnancy and Cushing's syndrome has up to now been described in 48 patients (including our two cases); Cushing's syndrome was ACTH-independent in 59%, ACTH-dependent in 33%, and of

  8. Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome). Case report.

    Science.gov (United States)

    Fini, G; Belli, E; Mici, E; Virciglio, P; Moricca, L M; D'Itri, L; Leonardi, A; Malavenda, M S; Krizzuk, D; Merola, R; Maturo, A; Pasta, V

    2013-01-01

    Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome (NBCCS) comprises multiple basal cell carcinomas, keratocysts of the jaw, palmar/plantar pits, spine and rib anomalies, calcifications of the falx cerebri etc. The diagnosis is made according to clinical criteria (Kimonis Criteria) and genetic ones. We studied one family where father and then his sun resulted affected by each syndrome. Gorlin-Goltz syndrome is a rare disease diagnosed according to clinical criteria sometimes difficult to integrate. The family case we presented shows how you can get diagnosis even in older age and after numerous surgeries. Patients should be given special attention and therefore should be monitorized and need multidisciplinary treatments continued in time, even a trivial change of signs and symptoms may be an important indicator of a precipitating event which puts the patient's life under threat.

  9. A rare cause of acute coronary syndrome: Kounis syndrome.

    Science.gov (United States)

    Almeida, João; Ferreira, Sara; Malheiro, Joana; Fonseca, Paulo; Caeiro, Daniel; Dias, Adelaide; Ribeiro, José; Gama, Vasco

    2016-12-01

    Kounis syndrome is an acute coronary syndrome in the context of a hypersensitivity reaction. The main pathophysiological mechanism appears to be coronary vasospasm. We report the case of a patient with a history of allergy to quinolones, who was given ciprofloxacin before an elective surgical procedure and during drug administration developed symptoms and electrocardiographic changes suggestive of ST-segment elevation acute coronary syndrome. The drug was suspended and coronary angiography excluded epicardial coronary disease. Two hours after withdrawal of the drug the symptoms and ST elevation had resolved completely. Copyright © 2016 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.

  10. Pediatric Toxic Shock Syndrome

    Directory of Open Access Journals (Sweden)

    Jennifer Yee

    2017-09-01

    Full Text Available Audience: This scenario was developed to educate emergency medicine residents on the diagnosis and management of a pediatric patient with toxic shock syndrome. The case is also appropriate for teaching of medical students and advanced practice providers, as well as a review of the principles of crisis resource management, teamwork, and communication. Introduction: Toxic shock syndrome is a low-frequency, high-acuity scenario requiring timely identification and aggressive management. If patients suffering from this condition are managed incorrectly, they may progress into multi-organ dysfunction and potentially death. Toxic shock syndrome has been associated with Streptococcus and Staphylococcus aureus (Staph. Approximately half of Staph cases are associated with menstruation, which was first described in the 1970s-1980s and was associated with the use of absorbent tampons.1 Group A Streptococcus may cause complications such as necrotizing fasciitis and gangrenous myositis.2 Pediatric patients may present critically ill from toxic shock syndrome. Providers need to perform a thorough history and physical exam to discern the source of infection. Management requires aggressive care with antibiotics and IV fluids. Objectives: By the end of this simulation session, the learner will be able to: 1 Recognize toxic shock syndrome. 2 Review the importance of a thorough physical exam. 3 Discuss management of toxic shock syndrome, including supportive care and the difference in antibiotic choices for streptococcal and staphylococcal toxic shock syndrome. 4 Appropriately disposition a patient suffering from toxic shock syndrome. 5 Communicate effectively with team members and nursing staff during a resuscitation of a critically ill patient. Method: This session was conducted using high-fidelity simulation, followed by a debriefing session and lecture on toxic shock syndrome.

  11. Klinefelter's syndrome and Prader-Willi syndrome: A rare combination

    NARCIS (Netherlands)

    Verhoeven, W.M.A.; Vries, B.B. van; Duffels, S.J.H.; Egger, J.I.M.; Noordam, C.; Tuinier, S.

    2007-01-01

    In this paper a review is presented of the rare combination of Klinefelter's syndrome and Prader-Willi syndrome (PWS) and a second case of this combination with a uniparental disomy (UPD) etiology of PWS is described. Patients outlined in all other 8 reports and the present case have a PWS

  12. Klinefelter's syndrome and Prader-Willi syndrome: a rare combination.

    NARCIS (Netherlands)

    Verhoeven, W.M.A.; Vries, B.B. van; Duffels, S.J.H.; Egger, J.I.M.; Noordam, C.; Tuinier, S.

    2007-01-01

    In this paper a review is presented of the rare combination of Klinefelter's syndrome and Prader-Willi syndrome (PWS) and a second case of this combination with a uniparental disomy (UPD) etiology of PWS is described. Patients outlined in all other 8 reports and the present case have a PWS

  13. Hyperimmunoglobulin E syndrome with Sjogren's syndrome in a child

    African Journals Online (AJOL)

    We describe a case of hyperimmunoglobulin E syndrome (HIES) associated with Sjogren's syndrome (SS) in a 10-year-old boy and provide a brief review of the literature. Although seen in adults, SS occurring after a primary immunodeficiency disease such as HIES has not previously been reported in a child.

  14. Marfan syndrome (image)

    Science.gov (United States)

    Marfan syndrome is a disorder of connective tissue which causes skeletal defects typically recognized in a tall, lanky person. A person with Marfan syndrome may exhibit long limbs and spider-like fingers, ...

  15. Hyperimmunoglobulin E syndrome

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/001311.htm Hyperimmunoglobulin E syndrome To use the sharing features on this page, please enable JavaScript. Hyperimmunoglobulin E syndrome is a rare, inherited disease. It causes ...

  16. Estimation of the frequency of occult mutations for an autosomal recessive disease in the presence of genetic heterogeneity: application to genetic hearing loss disorders.

    Science.gov (United States)

    Kimberling, William J

    2005-11-01

    The routine testing for pathologic mutation(s) in a patient's DNA has become the foundation of modern molecular genetic diagnosis. It is especially valuable when the phenotype shows genetic heterogeneity, and its importance will grow as treatments become genotype specific. However, the technology of mutation detection is imperfect and mutations are often missed. This can be especially troublesome when dealing with a recessive disorder where the combination of genetic heterogeneity and missed mutation creates an imprecision in the genotypic assessment of individuals who do not appear to have the expected complement of two pathologic mutations. This article describes a statistical approach to the estimation of the likelihood of a genetic diagnosis under these conditions. In addition to providing a means of testing for missed mutations, it also provides a method of estimating and testing for the presence of genetic heterogeneity in the absence of linkage data. Gene frequencies as well as estimates of sensitivity and specificity can be obtained as well. The test is applied to GJB2 recessive nonsyndromic deafness, Usher syndrome types Ib and IIa, and Pendred-enlarged vestibular aqueduct syndrome. Copyright 2005 Wiley-Liss, Inc.

  17. Congenital hypoventilation syndrome and Hirschsprung's disease - Haddad syndrome: A neonatal case presentation.

    Science.gov (United States)

    Jaiyeola, P; El-Metwally, D; Viscardi, R; Greene, C; Woo, H

    2015-01-01

    Congenital central hypoventilation syndrome (CCHS) is an uncommon cause of apnea in the newborn characterized by the occurrence of apnea predominantly during sleep. Haddad syndrome is CCHS with Hirschsprung's disease. We report a newborn with Haddad syndrome that had a family history of spinal muscular atrophy and discuss aspects of CCHS and important considerations in the evaluation of apnea in the term newborn.

  18. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine M; Bodtger, Uffe

    2016-01-01

    This is a systematic review of cases with Lemierre's syndrome (LS) in the past 5 years. LS is characterized by sepsis often evolving after a sore throat or tonsillitis and then complicated by various septic emboli and thrombosis of the internal jugular vein. Symptoms include sepsis, pain, and/or ...... LS in this day and age appears to be low, however the syndrome is difficult to recognize, and still requires the full attention of the clinician.......This is a systematic review of cases with Lemierre's syndrome (LS) in the past 5 years. LS is characterized by sepsis often evolving after a sore throat or tonsillitis and then complicated by various septic emboli and thrombosis of the internal jugular vein. Symptoms include sepsis, pain, and....../or swelling in the throat or neck, as well as respiratory symptoms. Laboratory findings show elevated infectious parameters and radiological findings show thrombosis of the internal jugular vein and emboli in the lungs or other organs. The syndrome is often associated with an infection with Fusobacterium...

  19. Kartagener's Syndrome.

    Science.gov (United States)

    Dhar, D K; Ganguly, K C; Alam, S; Hossain, A; Sarker, U K; Das, B K; Haque, M J

    2009-01-01

    Kartagener's Syndrome or Immotile Cilia Syndrome, a variant of Primary Ciliary Dyskinesia (PCD), is a rare autosomal recessive genetic disorder caused by defect in the tiny hair like structure, the cilia lining the respiratory tract (upper and lower), sinuses, eustachian tubes, middle ear and fallopian tubes. Here electron microscopy shows abnormal arrangement of ciliary tubules and patients with Kartagener's syndrome has an absence of dynein arms at the base of the cilia. The inability of cilia to move results in inadequate clearance of bacteria from the air passages, resulting in an increased risk of infection and causing bronchiectasis. Another result of ciliary immobility is infertility. A 60 years old lady was diagnosed as a case of Kartagener's syndrome. She had history of chronic cough for 20 years, irregular fever for 20 years and occasional shortness of breath for 5 years. Relevant investigations revealed dextrocardia, situs inversus, bilateral maxillary sinusitis with non pneumatised frontal sinus and bronchiectasis. She was treated with low concentration oxygen inhalation, antibiotic, bronchodilator, chest physiotherapy including postural drainage, vitamins and other supportive treatment.

  20. Clinicopathological comparison of colorectal and endometrial carcinomas in patients with Lynch-like syndrome versus patients with Lynch syndrome.

    Science.gov (United States)

    Mas-Moya, Jenny; Dudley, Beth; Brand, Randall E; Thull, Darcy; Bahary, Nathan; Nikiforova, Marina N; Pai, Reetesh K

    2015-11-01

    Screening for DNA mismatch repair (MMR) deficiency in colorectal and endometrial carcinomas identifies patients at risk for Lynch syndrome. Some patients with MMR-deficient tumors have no evidence of a germline mutation and have been described as having Lynch-like syndrome. We compared the clinicopathological features of colorectal and endometrial carcinomas in patients with Lynch-like syndrome and Lynch syndrome. Universal screening identified 356 (10.6%) of 3352 patients with colorectal carcinoma and 72 (33%) of 215 patients with endometrial carcinoma with deficient DNA MMR. Sixty-six patients underwent germline mutation analysis with 45 patients (68%) having evidence of a germline MMR gene mutation confirming Lynch syndrome and 21 patients (32%) having Lynch-like syndrome with no evidence of a germline mutation. Most patients with Lynch-like syndrome had carcinoma involving the right colon compared to patients with Lynch syndrome (93% versus 45%; P Lynch syndrome confirmed by germline mutation analysis. Synchronous or metachronous Lynch syndrome-associated carcinoma was more frequently identified in patients with Lynch syndrome compared to Lynch-like syndrome (38% versus 7%; P = .04). There were no significant differences in clinicopathological variables between patients with Lynch-like syndrome and Lynch syndrome with endometrial carcinoma. In summary, 32% of patients with MMR deficiency concerning Lynch syndrome will have Lynch-like syndrome. Our results demonstrate that patients with Lynch-like syndrome are more likely to have right-sided colorectal carcinoma, less likely to have synchronous or metachronous Lynch syndrome-associated carcinoma, and less likely to demonstrate isolated loss of MSH6 expression within their tumor. Copyright © 2015 Elsevier Inc. All rights reserved.

  1. Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome

    NARCIS (Netherlands)

    Narumi, Yoko; Aoki, Yoko; Niihori, Tetsuya; Neri, Giovanni; Cave, Helene; Verloes, Alain; Nava, Caroline; Kavamura, Maria Ines; Okamoto, Nobuhiko; Kurosawa, Kenji; Hennekam, Raoul C. M.; Wilson, Louise C.; Gillessen-Kaesbach, Gabriele; Wieczorek, Dagmar; Lapunzina, Pablo; Ohashi, Hirofumi; Makita, Yoshio; Kondo, Ikuko; Tsuchiya, Shigeru; Ito, Etsuro; Sameshima, Kiyoko; Kato, Kumi; Kure, Shigeo; Matsubara, Yokhi

    2007-01-01

    Cardio-facio-cutaneous (CFC) syndrome is a multiple congenital anomaly/mental retardation syndrome characterized by heart defects, a distinctive facial appearance, ectodermal abnormalities and mental retardation. Clinically, it overlaps with both Noonan syndrome and Costello syndrome, which are

  2. Genetics Home Reference: MEGDEL syndrome

    Science.gov (United States)

    ... Leigh-like syndrome 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MEGDHEL syndrome SERAC1 ... Topic: Newborn Screening Genetic and Rare Diseases Information Center (1 ...

  3. Usher syndrome type III can mimic other types of Usher syndrome.

    Science.gov (United States)

    Pennings, Ronald J E; Fields, Randall R; Huygen, Patrick L M; Deutman, August F; Kimberling, William J; Cremers, Cor W R J

    2003-06-01

    Clinical and genetic characteristics are presented of 2 patients from a Dutch Usher syndrome type III family who have a new homozygous USH3 gene mutation: 149-152delCAGG + insTGTCCAAT. One individual (IV:1) is profoundly hearing impaired and has normal vestibular function and retinitis punctata albescens (RPA). The other individual is also profoundly hearing impaired, but has well-developed speech, vestibular areflexia, and retinitis pigmentosa sine pigmento (RPSP). These findings suggest that Usher syndrome type III can be clinically misdiagnosed as either Usher type I or II; that Usher syndrome patients who are profoundly hearing impaired and have normal vestibular function should be tested for USH3 mutations; and that RPA and RPSP can occur as fundoscopic manifestations of pigmentary retinopathy in Usher syndrome.

  4. Malignant vasovagal syndrome in two patients with Wolff-Parkinson-White syndrome

    Science.gov (United States)

    Gandhi, N M; Bennett, D H

    2004-01-01

    The presence of Wolff-Parkinson-White (WPW) syndrome in patients presenting with syncope suggests that tachyarrhythmia may be the cause. However, the symptoms require careful evaluation. Two young patients presented with syncope and were found to have WPW syndrome on their ECG. In both patients symptoms were suggestive of vasovagal syncope. During tilt testing, both the patients developed their typical symptoms with a fall in blood pressure and heart rate confirming the diagnosis of malignant vasovagal syndrome. PMID:15020537

  5. Carpal Tunnel Syndrome

    Science.gov (United States)

    ... a passing cramp? It could be carpal tunnel syndrome. The carpal tunnel is a narrow passageway of ... three times more likely to have carpal tunnel syndrome than men. Early diagnosis and treatment are important ...

  6. Moebius Syndrome Foundation

    Science.gov (United States)

    ... craniofacial/neurological disorder. Individuals with Moebius syndrome cannot smile or frown, and do not have lateral eye ... the organization to ensure that they are in line with the mission of the Moebius Syndrome Foundation. ...

  7. Ehlers-Danlos syndrome

    Directory of Open Access Journals (Sweden)

    Wakhloo Tulika

    2015-01-01

    Full Text Available Ehlers-Danlos syndrome is a group of clinically and genetically heterogeneous inherited connective tissue disorders with widespread manifestations. The prevalence of this syndrome is 1:5000 worldwide without gender, racial or ethnic associations. This syndrome is characterized by joint hypermobility, dermal hyperelasticity and tissue fragility caused by mutations in genes encoding collagen type I, III, V and enzymes involved in the posttranslational modifications of collagen. The oral manifestations include increased mucosal fragility, delayed wound healing, early onset generalized periodontitis and temporomandibular joint hypermobility. Children presenting with this syndrome are often misdiagnosed for hematological problem as they present with bruising, malignancy and/or child abuse. A thorough assessment of the patient is, therefore, essential for early diagnosis and patient referral. This paper reviews current literature, oral manifestations, diagnostic investigations and effective dental management.

  8. What Is Respiratory Distress Syndrome?

    Science.gov (United States)

    ... Home / Respiratory Distress Syndrome Respiratory Distress Syndrome Also known as What Is Respiratory ... This condition is called apnea (AP-ne-ah). Respiratory Distress Syndrome Complications Depending on the severity of ...

  9. The acute radiation syndrome

    International Nuclear Information System (INIS)

    Souhami Filho, L.

    1985-01-01

    Symptoms and signs from medical aspects resulting from whole body exposure, or in the main part, to ionizing radiation are described. The dose-response relationship is studied and the exposure is divided in three parts: central nervous system syndrome, gastrointestinal syndrome and hematopoietic syndrome. Brief comments about the treatment are reported. (M.A.C.) [pt

  10. Gilles de la Tourette's syndrome in a patient with 47(XXX) syndrome: a case report.

    Science.gov (United States)

    Chiappedi, Matteo; de Vincenzi, Silvia; Dolci, Roberta; De Luca, Sara; Bejor, Maurizio

    2011-11-05

    To the best of our knowledge, this is the first report of a comorbidity between Gilles de la Tourette's syndrome and 47 (XXX) syndrome. The clinical picture of Gilles de la Tourette's Syndrome is well described, while 47 (XXX) syndrome is much more rare and has a broader spectrum of possible phenotypic presentations. An Italian Caucasian girl was referred at the age of 11 to our Rehabilitation Center for anxiety and learning difficulties. The girl had already been diagnosed as having 47(XXX) syndrome; she had some rather typical features of the chromosomal abnormality, but she also showed a high level of anxiety and the presence of motor and vocal tics. When an accurate history was taken, a diagnosis of Gilles de la Tourette's Syndrome emerged. The possible interaction between peculiar features of these two syndromes in terms of neuropsychological and affective functioning is both interesting for the specific case and to hypothesize models of rehabilitation for patients with one or both syndromes. Executive functions are specifically reduced in both syndromes, therefore it might be hard to discriminate the contribution of each one to the general impairment; the same applies to anxiety. Moreover, mental retardation (with a significantly lower verbal cognitive functioning) poses relevant problems when suggesting cognitive behavioral or psychoeducational rehabilitative approaches.

  11. What Is Antiphospholipid Antibody Syndrome?

    Science.gov (United States)

    ... Back To Health Topics / Antiphospholipid Antibody Syndrome Antiphospholipid Antibody Syndrome Also known as What Is Antiphospholipid (AN-te-fos-fo-LIP-id) antibody syndrome (APS) is an autoimmune disorder. Autoimmune disorders ...

  12. Noonan syndrome - a new survey.

    Science.gov (United States)

    Tafazoli, Alireza; Eshraghi, Peyman; Koleti, Zahra Kamel; Abbaszadegan, Mohammadreza

    2017-02-01

    Noonan syndrome (NS) is an autosomal dominant disorder with vast heterogeneity in clinical and genetic features. Various symptoms have been reported for this abnormality such as short stature, unusual facial characteristics, congenital heart abnormalities, developmental complications, and an elevated tumor incidence rate. Noonan syndrome shares clinical features with other rare conditions, including LEOPARD syndrome, cardio-facio-cutaneous syndrome, Noonan-like syndrome with loose anagen hair, and Costello syndrome. Germline mutations in the RAS-MAPK (mitogen-activated protein kinase) signal transduction pathway are responsible for NS and other related disorders. Noonan syndrome diagnosis is primarily based on clinical features, but molecular testing should be performed to confirm it in patients. Due to the high number of genes associated with NS and other RASopathy disorders, next-generation sequencing is the best choice for diagnostic testing. Patients with NS also have higher risk for leukemia and specific solid tumors. Age-specific guidelines for the management of NS are available.

  13. Skin Peeling Syndrome

    Directory of Open Access Journals (Sweden)

    Sharma Rajeev

    2000-01-01

    Full Text Available Peeling of the skin is an uncommonly encountered disorder. Occurrence of vesicles and bullae in peeling skin syndrome is very rare. We report a case of idiopathic peeling skin syndrome with vesicular lesions.

  14. Congenital Heart Diseases associated with Identified Syndromes ...

    African Journals Online (AJOL)

    Recognised syndromes were seen in 69(68%) cases. Down syndrome with 54 children contributed 78.3% of those with known syndromes. Other identified syndromes and associations were Marfan's, Noonan's, Edwards, Prune Belly, Apert, Ellis-van creveld syndrome and congenital rubella syndrome. Congenital heart ...

  15. Waardenburg syndrome with familial unilateral renal agenesis: a new syndrome variant?

    Science.gov (United States)

    Webb, Katie M; Smith, Alisha J; Dansby, Linda M; Diskin, Charles J

    2015-06-01

    A 64-year-old man with Waardenburg syndrome presented with anuria and was subsequently discovered by renal ultrasound to have unilateral renal agenesis. The patient is one of three generations with incidental finding of renal agenesis also marked by the presence of Waardenburg syndrome. To our knowledge, there has been no mention elsewhere in the scientific literature of a variant of Waardenburg syndrome with associated renal agenesis. © 2014 The Authors. Therapeutic Apheresis and Dialysis © 2014 International Society for Apheresis.

  16. Are ECG abnormalities in Noonan syndrome characteristic for the syndrome?

    NARCIS (Netherlands)

    Raaijmakers, R.; Noordam, C.; Noonan, J.A.; Croonen, E.A.; Burgt, C.J.A.M. van der; Draaisma, J.M.T.

    2008-01-01

    Of all patients with Noonan syndrome, 50-90% have one or more congenital heart defects. The most frequent occurring are pulmonary stenosis (PS) and hypertrophic cardiomyopathy. The electrocardiogram (ECG) of a patient with Noonan syndrome often shows a characteristic pattern, with a left axis

  17. Gorlin-Goltz Syndrome

    Directory of Open Access Journals (Sweden)

    M K Sunil

    2010-01-01

    Full Text Available Gorlin-Goltz syndrome, also known as basal cell nevus syndrome, is an uncommon autosomal dominant inherited disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts, and musculoskeletal malformation. It is occasionally associated with aggressive basal cell carcinoma and internal malignancies. It is about a muttisystemic process characterized by the presence of multiple pigmented basocellular carcinomas, keratocysts in the jaws, palmar and/or plantar pits and calcification of the falxcerebri. Hence, present a case report and a review of Gorlin-Goltz syndrome.

  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. Influence of traditional Chinese medicine syndrome groups on quality of life in women with metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Li-Wen Huang

    2016-10-01

    Full Text Available Traditional Chinese medicine (TCM; 中醫 zhōng yī syndrome groups are based on the symptoms of human diseases and guide the use of Chinese herbs. The aim of this study was to examine the effects of TCM syndrome groups on biochemical characteristics and quality of life (QOL in women with metabolic syndrome (MS. Among the 1080 registered female patients screened at our outpatient clinic, a total of 322 women aged between 18 and 65 years and meeting the requirements of MS were enrolled. All the patients were asked to fill out a questionnaire on metabolic TCM syndrome groups and a questionnaire on the QOL, the Medical Outcomes Study (MOS Short Form-12 (SF-12. Data of biochemical characteristics were collected at the same time. The present study showed MS women in TCM syndrome groups had significantly lower physical and mental component scores in SF-12 compared with those not in TCM syndrome groups. We also found MS patients in TCM syndrome groups, except Kidney Deficiency syndrome, showed higher body mass indexes, waist circumference, and hip circumference. However, there was almost no difference in most biochemical characteristics between TCM syndrome groups. The MS patients diagnosed as belonging to TCM syndrome groups had poor QOL.

  20. Nelson syndrome: definition and management.

    Science.gov (United States)

    Barber, T M; Adams, E; Wass, J A H

    2014-01-01

    Nelson syndrome is an important complication of treatment with total bilateral adrenalectomy (TBA) for patients with refractory Cushing's disease. Although early cases of Nelson syndrome often presented with the clinical features of large sellar masses, the modern face of Nelson syndrome has changed primarily due to earlier detection (with highly resolved magnetic resonance imaging (MRI) and sensitive ACTH assays) and greater awareness of the condition, resulting in reduced morbidity and mortality. Although lack of administration of neoadjuvant pituitary radiotherapy post-TBA surgery may predict future development of Nelson syndrome, other predictive factors remain controversial. Therefore, Nelson syndrome should be screened for closely and long-term in all patients with a history of Cushing's disease and TBA. The diagnosis of Nelson syndrome remains controversial, and the pathogenesis of this condition is incompletely understood. Current hypotheses include the "released negative feedback" mechansism (residual pituitary corticotropinoma cells are "released" from the negative feedback effects of cortisol following TBA), and the "aggressive corticotropinoma" mechanism (Nelson syndrome is most likely to develop in those patients with refractory treatments - including TBA - for an underlying aggressive corticotropinoma). Effective management of Nelson syndrome with pituitary surgery and radiotherapy is often a challenge. Other therapies (such as Gamma Knife surgery and temozolomide) play an important role and merit further research into their efficacy and placement in the management pathway of Nelson syndrome. © 2014 Elsevier B.V. All rights reserved.

  1. Goldenhar syndrome and urogenital abnormalities

    Directory of Open Access Journals (Sweden)

    Mohan Marulaiah

    2003-01-01

    Full Text Available The Goldenhar syndrome (oculo-auriculo-vertebral syn-drome or 1st and 2nd branchial arch syndrome is a com-plex of craniofacial anomalies. It has been associated with anomalies in other systems and with abnormalities of the urogenital system. We present a case of Goldenhar syn-drome with multiple renal anomalies and a urogenital si-nus, which has not been reported before.

  2. Epilepsy in fragile-X-syndrome mimicking panayiotopoulos syndrome: Description of three patients.

    Science.gov (United States)

    Bonanni, Paolo; Casellato, Susanna; Fabbro, Franco; Negrin, Susanna

    2017-10-01

    Fragile-X-syndrome is the most common cause of inherited intellectual disability. Epilepsy is reported to occur in 10-20% of individuals with Fragile-X-syndrome. A frequent seizure/electroencephalogram (EEG) pattern resembles that of benign rolandic epilepsy. We describe the clinical features, EEG findings and evolution in three patients affected by Fragile-X-syndrome and epilepsy mimicking Panayiotopoulos syndrome. Age at seizure onset was between 4 and about 7 years. Seizures pattern comprised a constellation of autonomic symptoms with unilateral deviation of the eyes and ictal syncope. Duration of the seizures could be brief or lengthy. Interictal EEGs revealed functional multifocal abnormalities. The evolution was benign in all patients with seizures remission before the age of 14. This observation expands the spectrum of benign epileptic phenotypes present in Fragile-X-syndrome and may be quite helpful in guiding anticonvulsant management and counseling families as to expectations regarding seizure remission. © 2017 Wiley Periodicals, Inc.

  3. A Case of Paraneoplastic Cushing Syndrome Presenting as Hyperglycemic Hyperosmolar Nonketotic Syndrome

    Directory of Open Access Journals (Sweden)

    Christina E. Brzezniak

    2017-04-01

    Full Text Available Carcinoid tumors are neuroendocrine tumors that mainly arise in the gastrointestinal tract, lungs, and bronchi. Bronchopulmonary carcinoids have been associated with Cushing syndrome, which results from ectopic adrenocorticotrophic hormone (ACTH secretion. We report the case of a 65-year-old man, a colonel in the US Air Force, with metastatic bronchopulmonary carcinoid tumors treated on a clinical trial who was hospitalized for complaints of increasing thirst, polydipsia, polyuria, weakness, and visual changes. Decompensated hyperglycemia suggested a diagnosis of hyperglycemic hyperosmolar nonketotic syndrome (HHNS. Additional findings, which included hypokalemia, hypernatremia, hypertension, metabolic alkalosis, moon facies, and striae, raised a red flag for an ectopic ACTH syndrome. Elevated ACTH levels confirmed Cushing syndrome. Treatment with a fluid replacement and insulin drip resulted in immediate symptomatic improvement. Cushing syndrome should be considered in carcinoid patients with physical stigmata such as moon facies and striae. HHNS may be the presenting clinical feature in patients with impaired glucose metabolism.

  4. Spectrum of Features in Pterygium Syndrome

    Directory of Open Access Journals (Sweden)

    Sanjay Y. Parashar

    2006-04-01

    Full Text Available Pterygium syndrome is a complex and rare congenital deformity that consists of contractures involving multiple flexural surfaces and associated craniofacial anomalies. It often has associated conditions, including anomalies of the cardiovascular, respiratory, gastrointestinal and genitourinary systems. It may present in different forms, including multiple pterygium syndrome of Escobar, lethal multiple pterygium syndrome, popliteal pterygium syndrome, lethal popliteal syndrome (Bartsocas-Papas syndrome and arthrogryposis multiplex congenita. The clinical presentation, multidisciplinary management and the long-term outcome in three patients with this condition are presented.

  5. Burnout Syndrome

    OpenAIRE

    Panova, Gordana; Panov, Nenad; Stojanov, H; Sumanov, Gorgi; Panova, Blagica; Stojanovski, Angel; Nikolovska, Lence; Jovevska, Svetlana; Trajanovski, D; Asanova, D

    2013-01-01

    Introduction: Increasing work responsibilities, allocation of duties, loss of energy and motivation in everyday activities, emotional exhaustion, lack of time for themselves, insuffi cient time for rest and recreation, dissatisfaction in private life. All these symptoms can be cause of Burnout Syndrome. Aim: To see the importance of this syndrome, the consequences of job dissatisfaction, the environment, family and expression in drastic chan...

  6. Noonan syndrome

    OpenAIRE

    Roberts, Amy E; Allanson, Judith E; Tartaglia, Marco; Gelb, Bruce D

    2013-01-01

    Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS–MAPK pathway, leading to pathway dysregulation. Management guidelines have been developed. Several clinically relevant genotype–phenotype correlations aid ris...

  7. Crohn's Disease Associated with Sweet's Syndrome and Sjögren's Syndrome Treated with Infliximab

    Directory of Open Access Journals (Sweden)

    Erina N. Foster

    2005-01-01

    Full Text Available The association of Crohn's disease (CD and Sweet's syndrome is rare and the presence of Sjögren's syndrome in Crohn's disease is even rarer, with only three reports found in the literature. We describe two cases of Crohn's disease associated with Sweet's syndrome, one of which is the first case of CD and Sweet's concomitantly associated with Sjögren's syndrome. Both cases responded rapidly to Infliximab therapy with complete resolution of the skin lesions.

  8. Lumbar dorsal ramus syndrome.

    Science.gov (United States)

    Bogduk, N

    1980-11-15

    Low back pain, referred pain in the lower limbs, and spasm of the back, gluteal, and hamstring muscles are clinical features which can be induced in normal volunteers by stimulating structures which are innervated by the lumbar dorsal rami. Conversely, they can be relieved in certain patients by selective interruption of conduction along dorsal rami. These facts permit the definition of a lumbar dorsal ramus syndrome, which can be distinguished from the intervertebral disc syndrome and other forms of low back pain. The distinguishing feature is that, in lumbar dorsal ramus syndrome, all the clinical features are exclusively mediated by dorsal rami and do not arise from nerve-root compression. The pathophysiology, pathology, and treatment of this syndrome are described. Recognition of this syndrome, and its treatment with relatively minor procedures, can obviate the need for major surgery which might otherwise be undertaken.

  9. [Clinical characteristics of Rett Syndrome].

    Science.gov (United States)

    Abbes, Zeineb; Bouden, Asma; Halayem, Soumaya; Othman, Sami; Bechir Halayem, Mohamed

    2011-10-01

    Rett Syndrome is a neurodevelopmental disorder, one of the least commonly occurring autism spectrum disorders (ASD),affecting mainly females. To describe features and molecular specificities of Rett syndrome. To identify articles for this review, a Pubmed search was conducted using the following keywords: Rett syndrome, regression,mutation, stereotypes. This syndrome is characterized by cognitive impairment,communication dysfunction, stereotypic movement disorder, and growth failure. It is generally caused by mutations in the MECP2 gene. Rett Syndrome has a prevalence ranging from 10-20 000 females. Specific treatment is not available, but patients need a careful planning for long-term care, with multidisciplinary approaches.

  10. Cushing syndrome: update on testing.

    Science.gov (United States)

    Raff, Hershel

    2015-03-01

    Endogenous hypercortisolism (Cushing syndrome) is one of the most enigmatic diseases in clinical medicine. The diagnosis and differential diagnosis of Cushing syndrome depend on proper laboratory evaluation. In this review, an update is provided on selected critical issues in the diagnosis and differential diagnosis of Cushing syndrome: the use of late-night salivary cortisol in initial diagnosis and for postoperative surveillance, and the use of prolactin measurement to improve the performance of inferior petrosal sinus sampling to distinguish Cushing disease from ectopic adrenocorticotropic hormone (ACTH) syndrome during differential diagnosis of ACTH-dependent Cushing syndrome. Copyright © 2015 Elsevier Inc. All rights reserved.

  11. Bertolotti's syndrome: a case report.

    Science.gov (United States)

    Mitra, Raj; Carlisle, Mark

    2009-01-01

    A case report and literature review is presented. To review relevant data for the management of Bertolotti's syndrome and to determine whether the transverse process-ilium articulation may be a pain generator. Bertolotti's syndrome is associated with axial low back pain secondary to arthritic changes; the pain generator in the disorder is unclear. We present a case report of symptomatic Bertolotti's syndrome managed with intra-articular steroid injections. A patient with Bertolotti's syndrome had significant relief of axial pain after steroid injection of the ilium-transverse process articulation. Steroid therapy may be a non-surgical alternative for the treatment of symptomatic Bertolotti's syndrome.

  12. Guillain-Barre Syndrome

    Science.gov (United States)

    Guillain-Barre syndrome is a rare disorder that causes your immune system to attack your peripheral nervous system (PNS). The PNS ... your brain. No one knows what causes the syndrome. Sometimes it is triggered by an infection, surgery, ...

  13. Polycystic Ovary Syndrome

    Science.gov (United States)

    Polycystic ovary syndrome (PCOS) happens when a woman's ovaries or adrenal glands produce more male hormones than normal. PCOS causes cysts ( ... PCOS are at higher risk of diabetes, metabolic syndrome, heart disease, and high blood pressure. PCOS is ...

  14. Hermansky-Pudlak syndrome

    Directory of Open Access Journals (Sweden)

    Preena A

    2017-04-01

    Full Text Available Hermansky-Pudlak syndrome is a rare autosomal recessive multisystem disease, with oculocutneous albinism, pulmonary fibrosis and bleeding diathesis. Here we report a case of Hermansky-Pudlak syndrome who presented with dyspnea, oculocutaneous albinism and nystagmus.

  15. Chinese restaurant syndrome

    Science.gov (United States)

    Chinese restaurant syndrome is a set of symptoms that some people have after eating Chinese food. A food additive ... Chinese restaurant syndrome is most often diagnosed based on the symptoms. The health care provider may ask the following ...

  16. Holmes-Adie Syndrome

    Science.gov (United States)

    ... other diseases of the nervous system, such as Sjogren’s syndrome or migraine. It is most often seen in ... other diseases of the nervous system, such as Sjogren’s syndrome or migraine. It is most often seen in ...

  17. Genetics Home Reference: Cockayne syndrome

    Science.gov (United States)

    ... Cockayne syndrome type II is also known as cerebro-oculo-facio-skeletal (COFS) syndrome, and while some ... link) National Institute of Neurological Disorders and Stroke: Cerebro-Oculo-Facio-Skeletal Syndrome Educational Resources (8 links) ...

  18. Stigma in Iranian Down Syndrome

    Directory of Open Access Journals (Sweden)

    Sahel Hemmati

    2010-04-01

    Full Text Available Objectives: Stigma is a negative value. Many behaviors are to ward Stigmatized people. Down syndrome is one of conditions with Stigma. The aim of this study is to determine the sources of labeling in iranian Down syndrome. Methods: The View of 105 Down syndrome families concerning stigma were conducted. All of Down syndrome was under 50 years. Results: A fair proportion of Down syndrome families perceived that stigma had a negative effect from social. Causes of stigma are different. Stigma due social interaction, Media and health professionals are significant than others. Discussion: The diagnostic label of Down syndrome may render the person and his family vulnerable to stigmatization. The most causes of stigma were determined therefore, in the destigmatization programs, they must be attended. Stigma must be detected, too.

  19. Loin pain hematuria syndrome.

    Science.gov (United States)

    Taba Taba Vakili, Sahar; Alam, Tausif; Sollinger, Hans

    2014-09-01

    Loin pain hematuria syndrome is a rare disease with a prevalence of ∼0.012%. The most prominent clinical features include periods of severe intermittent or persistent unilateral or bilateral loin pain accompanied by either microscopic or gross hematuria. Patients with loin pain hematuria syndrome initially present with hematuria, flank pain, or most often both hematuria and flank pain. Kidney biopsies from patients with loin pain hematuria typically reveal only minor pathologic abnormalities. Further, loin pain hematuria syndrome is not associated with loss of kidney function or urinary tract infections. Loin pain hematuria syndrome-associated hematuria and pain are postulated to be linked to vascular disease of the kidney, coagulopathy, renal vasospasm with microinfarction, hypersensitivity, complement activation on arterioles, venocalyceal fistula, abnormal ureteral peristalsis, and intratubular deposition of calcium or uric acid microcrystals. Many patients with loin pain hematuria syndrome also meet criteria for a somatoform disorder, and analgesic medications, including narcotics, commonly are used to treat loin pain hematuria syndrome-associated pain. Interventional treatments include renal denervation, kidney autotransplantation, and nephrectomy; however, these methods should be used only as a last resort when less invasive measures have been tried unsuccessfully. In this review article, we discuss and critique current clinical practices related to loin pain hematuria syndrome pathophysiology, diagnosis, treatment, and prognosis. Copyright © 2014 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.

  20. Parental Alienation Syndrome

    Directory of Open Access Journals (Sweden)

    Fuat Torun

    2011-09-01

    Full Text Available Children who have been programmed by one parent to be alienated from the other parent are commonly seen in the context of child-custody disputes. Its primary manifestation is the child’s campaign of denigration against a parent, a campaign that has no justification. It is said to result from a combination of a programming (brainwashing parent’s indoctrinations and the child’s own contributions to the vilification of the targeted parent. Many evaluators use the term parental alienation syndrome to refer to the disorder engendered in such children. However, there is significant controversy going on about the validity of parental alienation syndrome. The purpose of this article has been to describe and help to differentiate parental alienation syndrome and abuse for mental health professionals working in the field, and discuss the arguments about the validity of this syndrome.

  1. SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome

    Science.gov (United States)

    Fabre, Alexandre; Charroux, Bernard; Martinez-Vinson, Christine; Roquelaure, Bertrand; Odul, Egritas; Sayar, Ersin; Smith, Hilary; Colomb, Virginie; Andre, Nicolas; Hugot, Jean-Pierre; Goulet, Olivier; Lacoste, Caroline; Sarles, Jacques; Royet, Julien; Levy, Nicolas; Badens, Catherine

    2012-01-01

    Syndromic diarrhea (or trichohepatoenteric syndrome) is a rare congenital bowel disorder characterized by intractable diarrhea and woolly hair, and it has recently been associated with mutations in TTC37. Although databases report TTC37 as being the human ortholog of Ski3p, one of the yeast Ski-complex cofactors, this lead was not investigated in initial studies. The Ski complex is a multiprotein complex required for exosome-mediated RNA surveillance, including the regulation of normal mRNA and the decay of nonfunctional mRNA. Considering the fact that TTC37 is homologous to Ski3p, we explored a gene encoding another Ski-complex cofactor, SKIV2L, in six individuals presenting with typical syndromic diarrhea without variation in TTC37. We identified mutations in all six individuals. Our results show that mutations in genes encoding cofactors of the human Ski complex cause syndromic diarrhea, establishing a link between defects of the human exosome complex and a Mendelian disease. PMID:22444670

  2. DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

    Science.gov (United States)

    Campeau, Philippe M; Hennekam, Raoul C

    2014-09-01

    DOORS syndrome (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, Seizures) is characterized mainly by sensorineural deafness, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and seizures. Half of the patients with all clinical features have mutations in TBC1D24. We review here the manifestations of patients clinically diagnosed with DOORS syndrome. In this cohort of 32 families (36 patients) we detected 13 individuals from 10 families with TBC1D24 mutations. Subsequent whole exome sequencing in the cohort showed the same de novoSMARCB1 mutation (c.1130G>A), known to cause Coffin-Siris syndrome, in two patients. Distinguishing features include retinal anomalies, Dandy-Walker malformation, scoliosis, rocker bottom feet, respiratory difficulties and absence of seizures, and 2-oxoglutaric aciduria in the patients with the SMARCB1 mutation. We briefly discuss the heterogeneity of the DOORS syndrome phenotype and the differential diagnosis of this condition. © 2014 Wiley Periodicals, Inc.

  3. Nephrotic syndrome: a rare cause of acute coronary syndrome in a child

    International Nuclear Information System (INIS)

    Khan, J.A.; Shamsi, F.

    2012-01-01

    Patients with nephrotic syndrome are at risk of developing thrombosis in both veins and arteries. Various manifestations in different organs have been reported. Thrombi in heart seen, associated with multi organ thrombosis have been reported on autopsy earlier, but only once in a living patient with nephrotic syndrome. Here, we report a 13 years old boy with steroid-resistant nephrotic syndrome, who developed an asymptomatic but potentially hazardous large intracardiac thrombus. The child developed nephrotic syndrome at the age of 9 years and had multiple recurrences. At the age of 13 years, he developed myocardial infarction (MI) due to embolism from a large intracardiac thrombus. Later on, he was treated with heparin and warfarin anticoagulation. (author)

  4. Genetics Home Reference: Turner syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Turner syndrome Turner syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Turner syndrome is a chromosomal condition that affects development in ...

  5. Genetics Home Reference: Waardenburg syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Waardenburg syndrome Waardenburg syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Waardenburg syndrome is a group of genetic conditions that can ...

  6. Genetics Home Reference: Usher syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Usher syndrome Usher syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Usher syndrome is a condition characterized by partial or total ...

  7. Genetics Home Reference: Bartter syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Bartter syndrome Bartter syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Bartter syndrome is a group of very similar kidney disorders ...

  8. [Obstructive sleep apnea syndrome in the setting of Gorlin-Goltz syndrome].

    Science.gov (United States)

    Grundig, H; Sinikovic, B; Günther, J; Jungehülsing, M

    2013-09-01

    Goltz-Gorlin syndrome is a rare autosomal dominant hereditary disease associated with a high rate of spontaneous mutation. Diagnosis is based on clinically defined major and minor criteria. The disease is caused by a gene mutation locating to chromosome 9q22-31. We report on a young Goltz-Gorlin syndrome patient with obstructive sleep apnea syndrome. Due to intolerance to continuous positive airway pressure (CPAP) therapy and in order to avoid a tracheotomy, we opted for an alternative therapy comprising interdisciplinary multi-level surgery.

  9. Noonan′s Syndrome

    Directory of Open Access Journals (Sweden)

    Yesudian P Devakar

    1995-01-01

    Full Text Available Noonan’s syndrome is characterized by hypertelorism, webbed neck, curly or wooly hair, congenital heart defects, micrognathia and low set ears. A 15 year old male presented with features of Noonan’s syndrome with hypertelorism, cryptorchidism, low hairline, large and low set ears, curly hair, pulmonary stenosis and lentigenes. This case is presented to alert the physicians towards the occurrence of lentigenes, characteristic facies and pulmonary stenosis in the syndrome. A few hitherto unreported associations like macrothelia and high arched palate were also seen.

  10. Radiology of syndromes

    International Nuclear Information System (INIS)

    Taybi, H.

    1982-01-01

    In the course of 20 years, the author has investigated the radiological aspects of many different syndromes. 541 of them are listed in this book, together with their typical X-ray pictures. Congenital deformities, genetic diseases, and acquired diseases with typical combinations of sigs and symptoms are presented with information on how to identify them. Clinical manifestations are briefly characterized, and hereditary aspects are mentioned. Pathological characteristics and names of the syndromes are presented. A bibliography is given for every syndrome for those who intend to deepen their knowledge. (orig./MG) [de

  11. Lance-adams syndrome.

    Science.gov (United States)

    Shin, Jun-Hwa; Park, Jong Moon; Kim, A Ram; Shin, Hee Suk; Lee, Eun Shin; Oh, Min-Kyun; Yoon, Chul Ho

    2012-08-01

    It is not common for a patient who survives cardiac arrest to experience significant neurologic impairment such as acute and chronic post-hypoxic myoclonus, known as Lance-Adams syndrome. This syndrome is predominantly characterized by myoclonus that starts days to weeks after cardiopulmonary resuscitation in patients who regained consciousness. Although several cases of LAS were reported, the decisive treatment method has not been established. We report a 43 year old man with Lance-Adams syndrome who showed long-term improvement through treatment with anti-myoclonic agents and participation in a rehabilitation program.

  12. Bullous Wells’ syndrome

    Directory of Open Access Journals (Sweden)

    Bengu Cevirgen Cemil

    2016-01-01

    Full Text Available Wells’ syndrome (WS is an uncommon inflammatory skin disease which typically presents single or multiple erythematous and edematous urticarial plaques similar to cellulitis. The lesions may evolve into blue-grey morphea-like lesions and may persist for weeks or months. They ultimately heal without scar. Other clinical presentations reported in literature include papular and nodular and, rarely, bullous eruptions. Previously, bullous Wells’ syndrome was rarely reported in the literature. Herein, we describe a case of a female patient with bullous Wells’ syndrome localized to the upper limbs without any associated disorders.

  13. Burning Mouth Syndrome

    Science.gov (United States)

    ... Care Home Health Info Health Topics Burning Mouth Burning Mouth Syndrome (BMS) is a painful, complex condition often described ... or other symptoms. Read More Publications Cover image Burning Mouth Syndrome Publication files Download Language English PDF — Number of ...

  14. Neuroleptic Malignant Syndrome

    Science.gov (United States)

    ... such as neuroleptic malignant syndrome. Much of this research focuses on finding ways to prevent and treat the disorder. Show More Show Less Search Disorders SEARCH SEARCH Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Neuroleptic malignant syndrome is ...

  15. 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...

  16. [Evaluation of the primary caregiver syndrome when caring for elderly adults with immobility syndrome].

    Science.gov (United States)

    Morales-Cariño, Elizabeth María; Jiménez-Herrera, Blanca L; Serrano-Miranda, Tirzo A

    2012-01-01

    Caregiver syndrome may develop in caregivers of elderly adults. To evaluate the repercussions of the immobility syndrome present in elderly adults on their primary caregivers as well as to determine the clinical and socio-demographic characteristics of the elderly adult and caregiver. The study population included patients over 65 recruited in the Geriatric Rehabilitation Department, with the diagnosis of immobility syndrome and that required a primary caregiver. A questionnaire including socio-demographic variables was applied to all patients and caregivers, and the Zarit scale was also applied to caregivers in order to determine the presence of caregiver syndrome. Analysis was performed with descriptive statistical methods; Student's t test and Fisher's test were used for comparisons between strata. 75 patients and their caregivers were evaluated; patient average age was 75.9 years and 85.3% were female. 50.7% (38 cases) had mild immobility. The average caregiver's age was 50.6%, 70.7% were female and 57.3% were the patient's daughter. Caregiver syndrome was detected in 60% of them: 57.7% had mild symptoms and in 42.2%, symptoms were moderate to severe. No statistically significant association was established between the development of caregiver syndrome and the degree of patient immobility. Caregivers of patients with immobility syndrome are at high risk of developing caregiver syndrome, thus underscoring the need to include primary caregiver support programs.

  17. Gilles de la Tourette's syndrome in a patient with 47(XXX syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Chiappedi Matteo

    2011-11-01

    Full Text Available Abstract Introduction To the best of our knowledge, this is the first report of a comorbidity between Gilles de la Tourette's syndrome and 47 (XXX syndrome. The clinical picture of Gilles de la Tourette's Syndrome is well described, while 47 (XXX syndrome is much more rare and has a broader spectrum of possible phenotypic presentations. Case presentation An Italian Caucasian girl was referred at the age of 11 to our Rehabilitation Center for anxiety and learning difficulties. The girl had already been diagnosed as having 47(XXX syndrome; she had some rather typical features of the chromosomal abnormality, but she also showed a high level of anxiety and the presence of motor and vocal tics. When an accurate history was taken, a diagnosis of Gilles de la Tourette's Syndrome emerged. Conclusions The possible interaction between peculiar features of these two syndromes in terms of neuropsychological and affective functioning is both interesting for the specific case and to hypothesize models of rehabilitation for patients with one or both syndromes. Executive functions are specifically reduced in both syndromes, therefore it might be hard to discriminate the contribution of each one to the general impairment; the same applies to anxiety. Moreover, mental retardation (with a significantly lower verbal cognitive functioning poses relevant problems when suggesting cognitive behavioral or psychoeducational rehabilitative approaches.

  18. Polycystic ovary syndrome: a common reproductive syndrome with long-term metabolic consequences.

    Science.gov (United States)

    Yau, T Tl; Ng, N Yh; Cheung, L P; Ma, R Cw

    2017-12-01

    Polycystic ovary syndrome is the most common endocrine disorder among women of reproductive age. Although traditionally viewed as a reproductive disorder, there is increasing appreciation that it is associated with significantly increased risk of cardiometabolic disorders. Women with polycystic ovary syndrome may present to clinicians via a variety of different routes and symptoms. Although the impact on reproduction predominates during the reproductive years, the increased cardiometabolic problems are likely to become more important at later stages of the life course. Women with polycystic ovary syndrome have an approximately 2- to 5-fold increased risk of dysglycaemia or type 2 diabetes, and hence regular screening with oral glucose tolerance test is warranted. Although the diagnostic criteria for polycystic ovary syndrome are still evolving and are undergoing revision, the diagnosis is increasingly focused on the presence of hyperandrogenism, with the significance of polycystic ovarian morphology in the absence of associated hyperandrogenism or anovulation remaining uncertain. The management of women with polycystic ovary syndrome should focus on the specific needs of the individual, and may change according to different stages of the life course. In view of the clinical manifestations of the condition, there is recent debate about whether the current name is misleading, and whether the condition should be renamed as metabolic reproductive syndrome.

  19. Hypertension og det metaboliske syndrom

    DEFF Research Database (Denmark)

    Olsen, Michael Hecht; Jeppesen, Jørgen; Larsen, Mogens Lytken

    2009-01-01

    The metabolic syndrome is a relatively prevalent condition characterized by co-existence of several metabolic and cardiovascular risk factors including hypertension. Patients with hypertension have an increased risk of developing the metabolic syndrome which, in turn, increases the cardiovascular...... syndrome is of clinical importance as it makes the treating physician test for other elements of the syndrome in patients with one of the elements, e.g. hypertension. Udgivelsesdato: 2009-Jun...

  20. Hypertension og det metaboliske syndrom

    DEFF Research Database (Denmark)

    Olsen, Michael; Jeppesen, Jørgen; Larsen, Mogens

    2009-01-01

    The metabolic syndrome is a relatively prevalent condition characterized by co-existence of several metabolic and cardiovascular risk factors including hypertension. Patients with hypertension have an increased risk of developing the metabolic syndrome which, in turn, increases the cardiovascular...... syndrome is of clinical importance as it makes the treating physician test for other elements of the syndrome in patients with one of the elements, e.g. hypertension. Udgivelsesdato: 2009-Jun-15...

  1. Epilepsy in KCNH1-related syndromes

    NARCIS (Netherlands)

    Mastrangelo, Mario; Scheffer, Ingrid E.; Bramswig, Nuria C.; Nair, Lal. D. V.; Myers, Candace T.; Dentici, Maria Lisa; Korenke, Georg C.; Schoch, Kelly; Campeau, Philippe M.; White, Susan M.; Shashi, Vandana; Kansagra, Sujay; Van Essen, Anthonie J.; Leuzzi, Vincenzo

    Aim. KCNH1 mutations have been identified in patients with Zimmermann-Laband syndrome and Temple-Baraitser syndrome, as well as patients with uncharacterized syndromes with intellectual disability and overlapping features. These syndromes include dysmorphic facial features, nail hypo/aplasia, thumb

  2. Beckwith-Wiedemann syndrome

    Science.gov (United States)

    ... most common tumors in children with this syndrome. Causes Beckwith-Wiedemann syndrome is caused by a defect ... Fanaroff AA, Walsh MC, eds. Fanaroff and Martin's Neonatal-Perinatal Medicine . 10th ed. ... MA. Hypoglycemia. In: Kliegman RM, Stanton BF, St. Geme JW, ...

  3. Post-Polio Syndrome

    Science.gov (United States)

    ... You are here Home » Disorders » All Disorders Post-Polio Syndrome Information Page Post-Polio Syndrome Information Page What research is being done? ... behavior of motor neurons many years after a polio attack. Others are looking at the mechanisms of ...

  4. Cardiac involvement in antiphospholipid syndrome associated with Sneddon syndrome: a challenging diagnosis.

    Science.gov (United States)

    Faustino, Ana; Paiva, Luís; Morgadinho, Ana; Trigo, Emília; Botelho, Ana; Costa, Marco; Leitão-Marques, António

    2014-02-01

    Sneddon syndrome is a rare clinical entity characterized by the association of ischemic cerebrovascular disease and livedo reticularis. The authors report a case of stroke and myocardial infarction in a 39-year-old man with Sneddon syndrome and antiphospholipid syndrome who subsequently met some criteria for systemic lupus erythematosus, highlighting the complexity of cardiovascular involvement in systemic diseases. Copyright © 2013 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

  5. Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome.

    Science.gov (United States)

    Couser, Natario L; Marchuk, Daniel S; Smith, Laurie D; Arreola, Alexandra; Kaiser-Rogers, Kathleen A; Muenzer, Joseph; Pandya, Arti; Gucsavas-Calikoglu, Muge; Powell, Cynthia M

    2017-10-01

    Mitochondrial DNA depletion syndrome 5 (MIM 612073) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous pathogenic variants in the beta subunit of the succinate-CoA ligase gene located within the 13q14 band. We describe two siblings of Hispanic descent with SUCLA2-related mitochondrial depletion syndrome (encephalomyopathic form with methylmalonic aciduria); the older sibling is additionally affected with trisomy 21. SUCLA2 sequencing identified homozygous p.Arg284Cys pathogenic variants in both patients. This mutation has previously been identified in four individuals of Italian and Caucasian descent. The older sibling with concomitant disease has a more severe phenotype than what is typically described in patients with either SUCLA2-related mitochondrial depletion syndrome or Down syndrome alone. The younger sibling, who has a normal female chromosome complement, is significantly less affected compared to her brother. While the clinical and molecular findings have been reported in about 50 patients affected with a deficiency of succinate-CoA ligase caused by pathogenic variants in SUCLA2, this report describes the first known individual affected with both a mitochondrial depletion syndrome and trisomy 21. © 2017 Wiley Periodicals, Inc.

  6. Nakalanga Syndrome: Clinical Characteristics, Potential Causes, and Its Relationship with Recently Described Nodding Syndrome.

    Directory of Open Access Journals (Sweden)

    Kathrin Föger

    2017-02-01

    Full Text Available Nakalanga syndrome is a condition that was described in Uganda and various other African countries decades ago. Its features include growth retardation, physical deformities, endocrine dysfunction, mental impairment, and epilepsy, amongst others. Its cause remains obscure. Nodding syndrome is a neurological disorder with some features in common with Nakalanga syndrome, which has been described mainly in Uganda, South Sudan, and Tanzania. It has been considered an encephalopathy affecting children who, besides head nodding attacks, can also present with stunted growth, delayed puberty, and mental impairment, amongst other symptoms. Despite active research over the last years on the pathogenesis of Nodding syndrome, to date, no convincing single cause of Nodding syndrome has been reported. In this review, by means of a thorough literature search, we compare features of both disorders. We conclude that Nakalanga and Nodding syndromes are closely related and may represent the same condition. Our findings may provide new directions in research on the cause underlying this neurological disorder.

  7. Atypical presentations of Wolframs syndrome

    Directory of Open Access Journals (Sweden)

    S Saran

    2012-01-01

    Full Text Available Background: Wolfram syndrome is a rare hereditary or sporadic neurodegenerative disorder also known as DIDMOAD. The classically described presentation is of insulin-dependent diabetes, followed by optic atrophy, central diabetes insipidus, and sensory neural deafness. Also included are less well-described presentations of Wolframs syndrome. We here present three cases of atypical presentation of this syndrome. Case 1: A 15-year-old boy with insulin-dependent diabetes was presented for evaluation of depressive symptoms associated with suicidal tendency. Neuropsychiatric manifestations are described with Wolframs syndrome, and wolframin gene, in recessive inheritance, is associated with psychiatric illnesses without other manifestations of Wolframs syndrome. Case 2: A 17-year-old diabetic boy on insulin with good control of blood sugar presented for evaluation of delayed puberty. Central hypogonadism and other anterior pituitary hormone dysfunctions are the less publicized hormone dysfunctions in Wolframs syndrome. Case 3: A 23-year-old female who was on insulin for diabetes for the past 14 years, got admitted for evaluation of sudden loss of vision. This patient had developed a vitreous hemorrhage and, on evaluation, was found to have optic atrophy, sensory neural hearing loss, and diabetes insipidus, and presented differently from the gradual loss of vision described in Wolframs syndrome. Conclusion: Wolframs syndrome being a multisystem degenerative disorder can have myriad other manifestations than the classically described features. Neuropsychiatric manifestations, depression with suicidal risk, central hypogonadism, and secondary adrenal insufficiency are among the less well-described manifestations of this syndrome.

  8. DRESS syndrome with thrombotic microangiopathy revealing a Noonan syndrome: Case report.

    Science.gov (United States)

    Bobot, Mickaël; Coen, Matteo; Simon, Clémentine; Daniel, Laurent; Habib, Gilbert; Serratrice, Jacques

    2018-04-01

    The life-threatening drug rash with eosinophilia and systemic symptoms (DRESS) syndrome occurs most commonly after exposure to drugs, clinical features mimic those found with other serious systemic disorders. It is rarely associated with thrombotic microangiopathy. We describe the unique case of a 44-year-old man who simultaneously experienced DRESS syndrome with thrombotic microangiopathy (TMA) after a 5 days treatment with fluindione. Clinical evaluation leads to the discovery of an underlying lymphangiomatosis, due to a Noonan syndrome. The anticoagulant was withdrawn, and corticosteroids (1 mg/kg/day) and acenocoumarol were started. Clinical improvement ensued. At follow-up the patient is well. The association of DRESS with TMA is a rare condition; we believe that the presence of the underlying Noonan syndrome could have been the trigger. Moreover, we speculate about the potential interrelations between these entities.

  9. Lynch Syndrome: An Updated Review

    Directory of Open Access Journals (Sweden)

    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.

  10. Audiological findings in Noonan syndrome.

    Science.gov (United States)

    Tokgoz-Yilmaz, Suna; Turkyilmaz, Meral Didem; Cengiz, Filiz Basak; Sjöstrand, Alev Pektas; Kose, Serdal Kenan; Tekin, Mustafa

    2016-10-01

    The aim of this study was to evaluate audiologic properties of patients with Noonan syndrome and compare these findings with those of unaffected peers. The study included 17 children with Noonan syndrome and 20 typically developing children without Noonan syndrome. Pure tone and speech audiometry, immitancemetric measurement, otoacoustic emissions measurement and auditory brainstem response tests were applied to all (n = 37) children. Hearing thresholds of children with Noonan syndrome were higher (poorer) than those observed unaffected peers, while the hearing sensitivity of the both groups were normal limits (p = 0.013 for right, p = 0.031 for left ear). Transient evoked otoacoustic emissions amplitudes of the children with Noonan syndrome were lower than the children without Noonan syndrome (p = 0.005 for right, p = 0.002 for left ear). Middle ear pressures and auditory brainstem response values were within normal limits and there was no difference between the two groups (p > 0.05). General benefit of the present study is to characterize the audiologic findings of children with Noonan syndrome, which is beneficial in clinics evaluating children with Noonan syndrome. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  11. Cushing's syndrome in pregnancy.

    Science.gov (United States)

    Nassi, Rossella; Ladu, Cristina; Vezzosi, Chiara; Mannelli, Massimo

    2015-02-01

    Cushing's syndrome is a rare condition in the general population and is even less common during pregnancy with only a few cases reported in literature. The diagnosis of Cushing's syndrome may be difficult during pregnancy because the typical features of the disorder and pregnancy may overlap. However, Cushing's syndrome results in increased fetal and maternal complications, and diagnosis and treatment are critical. This report describes a case of 26-year-old female at the 19th week of pregnancy with symptoms and signs of hypercortisolism, where ACTH-independent Cushing's syndrome was diagnosed and treated by robotic laparoscopic adrenalectomy at the 21th week of gestation.

  12. [Asthenic syndrome in patients with burnout syndrome].

    Science.gov (United States)

    Chutko, L S; Surushkina, S Iu; Rozhkova, A V; Nikishena, I S; Iakovenko, E A

    2013-01-01

    The authors present the results of a survey of 103 patients aged 25 to 45 years with burnout syndrom. The results showed that most patients with the syndrome of burnout have clinical manifestations of asthenia, varying degrees of severity. According to psychological and psychophysiological examination in this group of patients were found attention and memory dysfunction. This study evaluated the efficacy of memoplant in the treatment of this pathology. The high efficiency of memoplant (improvement in 69.7% of cases) was detected, confirmed by the data of the clinical, psychological and neuropsychological research.

  13. Shaken Baby Syndrome

    Science.gov (United States)

    ... baby syndrome. Information from the National Library of Medicine’s MedlinePlus Child Abuse × What research is being done? The National ... baby syndrome. Information from the National Library of Medicine’s MedlinePlus Child Abuse See More About Research The National Institute ...

  14. Extracolonic Manifestations of Lynch Syndrome

    OpenAIRE

    Bansidhar, Brian J.

    2012-01-01

    Lynch syndrome has classically been defined by several predominant malignancies. Initial clinical criteria for diagnosis of Lynch syndrome would miss 40% of affected individuals. As time has passed, our understanding of Lynch syndrome has evolved and will continue to do so. The number of cancer types that are included in the Lynch phenotype is growing. This has allowed clinicians to redefine Lynch syndrome, at risk populations, screening needs, and diagnostic criteria. Inclusion of extracolon...

  15. Colobomata associated with Noonan's syndrome.

    OpenAIRE

    Kleanthous, L.; Cruz, D.; D'Graham, E.; Efthimiou, J.

    1987-01-01

    A patient with Noonan's syndrome and fundal colobomata in both eyes is described. To our knowledge, this is the first report of the association of colobomata with Noonan's syndrome. Although the patient had poor sight since early childhood and dyspnea on exertion as a teenager, the diagnosis of Noonan's syndrome was not made until early adulthood. We hope this report will encourage recognition of this syndrome and its implications at an earlier stage.

  16. Waardenburg Syndrome: A Case Report

    OpenAIRE

    Hayrullah Alp; Esma Alp

    2010-01-01

    Introduction: Auditory-pigmentary syndromes are a group of diseases that effect the skin, hair, eyes and the cochlea. Waardenburg syndrome is one of the members of these autosomal dominantly inherited diseases. Waardenburg syndrome is characterized by white forelock, congenital sensorineural hearing loss, hypopigmented skin and anomalies of the intraocular tissues. How ever all these diagnostic features may not be seen in all patient. In addition, there are four subtypes of the syndrome in ea...

  17. Syndrome in question: Gorlin-Goltz syndrome.

    Science.gov (United States)

    Ribeiro, Pauline Lyrio; Souza, João Basílio de; Abreu, Karina Demoner de; Brezinscki, Marisa Simon; Pignaton, Christine Chambo

    2016-01-01

    The Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an uncommon disorder caused by a mutation in Patched, tumor suppressor gene. It is mainly characterized by numerous early onset basal cell carcinomas, odontogenic cysts of jaw and skeletal abnormalities. Due to the wide clinical spectrum, treatment and management of its modalities are not standardized and should be individualized and monitored by a multidisciplinary team. We report a typical case in a 30-year-old man with multiple basal cell carcinomas, keratotic pits of palmar creases and bifid ribs, with a history of several corrective surgeries for keratocystic odontogenic tumors, among other lesions characteristic of the syndrome.

  18. Endoscopic third ventriculostomy

    Directory of Open Access Journals (Sweden)

    Yad Ram Yadav

    2012-01-01

    Full Text Available Endoscopic third ventriculostomy (ETV is considered as a treatment of choice for obstructive hydrocephalus. It is indicated in hydrocephalus secondary to congenital aqueductal stenosis, posterior third ventricle tumor, cerebellar infarct, Dandy-Walker malformation, vein of Galen aneurism, syringomyelia with or without Chiari malformation type I, intraventricular hematoma, post infective, normal pressure hydrocephalus, myelomeningocele, multiloculated hydrocephalus, encephalocele, posterior fossa tumor and craniosynostosis. It is also indicated in block shunt or slit ventricle syndrome. Proper Pre-operative imaging for detailed assessment of the posterior communicating arteries distance from mid line, presence or absence of Liliequist membrane or other membranes, located in the prepontine cistern is useful. Measurement of lumbar elastance and resistance can predict patency of cranial subarachnoid space and complex hydrocephalus, which decides an ultimate outcome. Water jet dissection is an effective technique of ETV in thick floor. Ultrasonic contact probe can be useful in selected patients. Intra-operative ventriculo-stomography could help in confirming the adequacy of endoscopic procedure, thereby facilitating the need for shunt. Intraoperative observations of the patent aqueduct and prepontine cistern scarring are predictors of the risk of ETV failure. Such patients may be considered for shunt surgery. Magnetic resonance ventriculography and cine phase contrast magnetic resonance imaging are effective in assessing subarachnoid space and stoma patency after ETV. Proper case selection, post-operative care including monitoring of ICP and need for external ventricular drain, repeated lumbar puncture and CSF drainage, Ommaya reservoir in selected patients could help to increase success rate and reduce complications. Most of the complications develop in an early post-operative, but fatal complications can develop late which indicate an importance of

  19. Sensitivity Analysis for Hydraulic Behavior of Shiraz Plain Aquifer Using PMWIN

    Directory of Open Access Journals (Sweden)

    Ahmad Reza karimipour

    2011-07-01

    Full Text Available In this study, hydraulic behavior of Shirazplain aquifer, with an area of ~300 km2, was simulated using PMWIN model. The performance of recently constructed drainage system in the plain was modeled and parameters affecting hydraulic behavior of the aquifer were analyzed. Measured rainfall and evaporation rates in the plain, recharge and discharge rates through the aqueducts, Khoshk and Chenar Rahdar rivers, as well as amount of water discharged from production wells and recharge due to returned wastewater were considered in the model. Plain hydrodynamic coefficients were estimated via calibration and sensitivity analysis of the model was performed for four important parameters. Results showed that the model is most sensitive to recharge rate and hydraulic conductivity, respectively, such that a small variation in these two parameters causes a dramatic change in hydraulic head distribution in the plain. Furthermore, specific yield coefficient influences the seasonal water level fluctuations, but the aqueducts conductance coefficient only affects the aqueduct radius of influence with little effect on the overall hydraulic behavior of the plain.

  20. Guide to Understanding Pfeiffer Syndrome

    Science.gov (United States)

    ... syndrome occurs more often in children with older fathers. if I have pfeiffer syndrome what are the odds of passing it to my children? p feiffer syndrome is a rare, autosomal dominant disorder, meaning it requires only one parent to ...

  1. Syndrome de Smith-Lemli-Opitz

    DEFF Research Database (Denmark)

    Pelluard-Nehmé, Fanny; Carles, Dominique; Alberti, Eve Marie

    2005-01-01

    SLO syndrome is an autosomal recessive condition with multiple malformations. This syndrome is ascribed to deficiency of 7 dehydrocholesterol reductase, an enzyme in the cholesterol biosynthetic pathway. The characteristics of this syndrome are facial anomalies, syndactyly of the second and third...

  2. [Case of posterior reversible encephalopathy syndrome caused by Fisher syndrome].

    Science.gov (United States)

    Yokoi, Katsunori; Ando, Tetsuo; Kawakami, Osamu

    2018-01-26

    This report presents a case of a 71-year-old woman with Fisher syndrome who had posterior reversible encephalopathy syndrome (PRES) before the initiation of intravenous immunoglobulin (IVIg) treatment. She had symptoms of common cold 2 weeks before the onset of PRES. On the day of the onset, she began to stagger while walking. On day 2, she developed hypertension, vision impairment, and limb weakness and was admitted to the hospital. On day 3, she was provided steroid pulse therapy. On day 4, she developed convulsions and right imperfection single paralysis and was transferred to the our hospital. During the transfer, the patient was conscious. Her blood pressure was high at 198/107 mmHg. She had mild weakness in her limbs and face, light perception in both eyes, dilation of both pupils, total external ophthalmoplegia, no tendon reflexes, and limb and trunk ataxia. We diagnosed PRES because of the high signal intensities observed on T 2 -weighted MRI on both sides of the parietal and occipital lobes. We also diagnosed Fisher syndrome because of a positive anti-GQ1b immunoglobulin G antibody test and albuminocytologic dissociation in the cerebrospinal fluid. PRES showed prompt improvement with antihypertensive therapy, whereas Fisher syndrome slowly improved over a course of 2 months. This case is the first report of PRES without IVIg suggesting that Fisher syndrome induces hypertension and causes PRES.

  3. Enamel renal syndrome: A rare case report

    Directory of Open Access Journals (Sweden)

    S V Kala Vani

    2012-01-01

    Full Text Available Enamel renal syndrome is a very rare disorder associating amelogenesis imperfecta with nephrocalcinosis. It is known by various synonyms such as amelogenesis imperfecta nephrocalcinosis syndrome, MacGibbon syndrome, Lubinsky syndrome, and Lubinsky-MacGibbon syndrome. It is characterized by enamel agenesis and medullary nephrocalcinosis. This paper describes enamel renal syndrome in a female patient born in a consanguineous family.

  4. [metabonomics research on coronary heart disease patients of phlegm turbidity syndrome and qi deficiency syndrome].

    Science.gov (United States)

    Cheng, Peng; Chen, Ze-qi; Wang, Dong-sheng

    2015-02-01

    To study the correlation between Chinese medical types of coronary heart disease (CHD) [i.e., phlegm turbidity syndrome (PTS) and qi deficiency syndrome (QDS)] and their metabolites. Recruited were 65 CHD patients including 37 cases of PTS and 28 cases of QDS. Serum endogenous metabolites in the two syndrome types were determined by gas chromatograph-mass spectrometer-computer (GC/MS), and their differences between their metabolic profiles analyzed. More than 100 chromatographic peaks were totally scanned. Chromatograms obtained was matched with mass spectrum bank, and finally we got the category contribution value of 46 kinds of substances. Results of MCTree analysis showed patients of PTS and patients of QDS could be effectively distinguished. Compounds contributing to identify the two syndromes were sequenced as serine, valine, 2 hydroxy propionic acid. Comparison of metabolites showed contents of serine and 2 hydroxy propionic acid were higher in patients of PTS than in patients of QDS (Pmetabonomics of CHD TCM syndrome types could provide material bases for TCM syndrome differentiation of CHD, indicating that metabonomics technologies might become a new research method for TCM syndrome typing.

  5. Exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type.

    Science.gov (United States)

    Simmonds, Jane V; Herbland, Anthony; Hakim, Alan; Ninis, Nelly; Lever, William; Aziz, Qasim; Cairns, Mindy

    2017-11-10

    To explore exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type and to explore patient experiences of physiotherapy. A cross sectional questionnaire survey design was used to collect quantitative and qualitative data from adult members of the Hypermobility Syndromes Association and Ehlers-Danlos Syndrome Support UK. Descriptive and inferential statistics were used to analyse the data. Qualitative data was analysed thematically. 946 questionnaires were returned and analysed. Participants who received exercise advice from a physiotherapist were 1.75 more likely to report high volumes of weekly exercise (odds ratio [OR] = 1.75, 95% confidence interval [CI] = 1.30-2.36, p Ehlers-Danlos syndrome - hypermobility type in this survey. Implications for rehabilitation Exercise is a cornerstone of treatment for Ehlers-Danlos syndrome/Ehlers-Danlos syndrome - hypermobility type. Pain, fatigue and fear of injury are frequently reported barriers to exercise. Advice from physiotherapists may significantly influence exercise behaviour. Physiotherapists with condition specific knowledge and good verbal and non-verbal communication facilitate a positive therapeutic experience.

  6. Oral mucosal manifestations in primary and secondary Sjögren syndrome and dry mouth syndrome

    Directory of Open Access Journals (Sweden)

    Katarzyna Błochowiak

    2016-02-01

    Full Text Available Introduction : One of the most important symptoms of Sjögren syndrome is xerostomia. The oral cavity deprived of saliva and its natural lubricative, protective and antibacterial properties is prone to a number of unfavourable consequences. Aim : To present the most important lesions on the oral mucosa in primary and secondary Sjögren syndrome and in dry mouth syndrome. Material and methods: The study group comprised 55 patients including 52 women and 3 men aged 20–72 years (average: 28.25 years. Results : Basing on the accepted criteria, primary Sjögren syndrome was diagnosed in 22 (40% patients, secondary Sjögren syndrome in 18 (32.7% patients, and dry mouth syndrome in 15 (27.27% patients. The physical examination and the examination of the mouth were performed and history was elicited from every patient. Conclusions : The most common pathologies appearing on the oral mucosa in primary and secondary Sjögren syndrome are angular cheilitis, cheilitis, increased lip dryness as well as non-specific ulcerations, aphthae and aphthoid conditions.

  7. Ehlers-Danlos syndrome(s) mimicking child abuse: Is there an impact on clinical practice?

    Science.gov (United States)

    Castori, Marco

    2015-12-01

    Ehlers-Danlos syndrome is a heterogeneous group of heritable connective tissue disorders characterized by increased fragility of various non-ossified tissues. It is usually ascertained due to abnormal skin texture, scarring complications, vascular fragility, or chronic symptoms, such as fatigue and musculoskeletal pain. Sometimes, Ehlers-Danlos syndrome remains undetected until the patient, usually in the pediatric age, shows extensive or severe mucocutaneous injuries after only minor traumas. In this scenario, the misdiagnosis of Ehlers-Danlos syndrome with child abuse is a possibility, as occasionally reported in the literature. Recently, more attention was posed by lay people between the possible association of Ehlers-Danlos syndrome and bone fragility. Literature and personal experience show a strong association between Ehlers-Danlos syndrome, generalized joint hypermobility and reduced bone mass density in older children and adults, especially fertile women. The existence of a true increased risk of fracture in Ehlers-Danlos syndrome is still a matter of debate in children and adults with little and conflicting evidence. In case of suspected child abuse, Ehlers-Danlos syndrome is certainly on the differential for bruising, especially in EDS types with marked cutaneous and capillary involvement. In suspected child abuse cases, careful examination of the index case and her/his extended family is routine, as well as exclusion of other disorders such as osteogenesis imperfecta. The hypothesis of Ehlers-Danlos syndrome as an alternative explanation for infantile fractures remains speculative. © 2015 Wiley Periodicals, Inc.

  8. Alice in Wonderland Syndrome, Burning Mouth Syndrome, Cold Stimulus Headache, and HaNDL: Narrative Review.

    Science.gov (United States)

    Valença, Marcelo M; de Oliveira, Daniella A; Martins, Hugo André de L

    2015-10-01

    Unusual headache syndromes are not as infrequent in clinical practice as was generally believed. About three fourths of the classified headache disorders found in the ICHD-II can be considered rare. The aim of this narrative review was to perform a literature review of the pathophysiology, clinical presentation, diagnostic criteria, and treatment of the following unusual headache disorders: Alice in Wonderland syndrome, burning mouth syndrome, cold stimulus headache, and the syndrome of transient headache and neurologic deficits with cerebrospinal fluid lymphocytosis. A literature review was performed using PubMed for each of the abovementioned headache disorders. The unusual headache syndromes as a distinct group of disorders are not as infrequent in clinical practice as was generally believed. Some of them, albeit considered as unusual, may occur with relative frequency, such as cold stimulus headache and burning mouth syndrome. © 2015 American Headache Society.

  9. [Gorlin-Goltz syndrome--a case report].

    Science.gov (United States)

    Debski, Tomasz; Jethon, Józef

    2010-06-01

    The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome-NBCCS) is an autosomal dominant syndrome caused by mutations found on chromosome 9. The syndrome is characterized by increased predisposition to develop a basal cell carcinoma and associated with multiorgan anomalies. To present a case of GGS and explain modern standards of care for patients with this syndrome. Authors report the case of a 36-year-old patient who was admitted to the Plastic Surgery Clinic due to numerous basal cell carcinomas. Previously patient underwent an orthopaedic, neurologic, dermatologic, stomatologic and surgery treatment due to particular anomalies which characterize this syndrome. Comprehensive interview and broadening of the diagnostics enabled to diagnose GGS and to introduce the appropriate treatment. GGS is a multidisciplinary problem and widespread knowledge of this syndrome could accelerate the diagnosis process. Early diagnosis of GGS allows to introduce the secondary prophylaxis and to apply the appropriate treatment to slow the progress of the syndrome.

  10. Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome.

    Science.gov (United States)

    Meester, Josephina A N; Verstraeten, Aline; Schepers, Dorien; Alaerts, Maaike; Van Laer, Lut; Loeys, Bart L

    2017-11-01

    Many different heritable connective tissue disorders (HCTD) have been described over the past decades. These syndromes often affect the connective tissue of various organ systems, including heart, blood vessels, skin, joints, bone, eyes, and lungs. The discovery of these HCTD was followed by the identification of mutations in a wide range of genes encoding structural proteins, modifying enzymes, or components of the TGFβ-signaling pathway. Three typical examples of HCTD are Marfan syndrome (MFS), Ehlers-Danlos syndrome (EDS), and Loeys-Dietz syndrome (LDS). These syndromes show some degree of phenotypical overlap of cardiovascular, skeletal, and cutaneous features. MFS is typically characterized by cardiovascular, ocular, and skeletal manifestations and is caused by heterozygous mutations in FBN1 , coding for the extracellular matrix (ECM) protein fibrillin-1. The most common cardiovascular phenotype involves aortic aneurysm and dissection at the sinuses of Valsalva. LDS is caused by mutations in TGBR1/2 , SMAD2/3 , or TGFB2/3 , all coding for components of the TGFβ-signaling pathway. LDS can be distinguished from MFS by the unique presence of hypertelorism, bifid uvula or cleft palate, and widespread aortic and arterial aneurysm and tortuosity. Compared to MFS, LDS cardiovascular manifestations tend to be more severe. In contrast, no association is reported between LDS and the presence of ectopia lentis, a key distinguishing feature of MFS. Overlapping features between MFS and LDS include scoliosis, pes planus, anterior chest deformity, spontaneous pneumothorax, and dural ectasia. EDS refers to a group of clinically and genetically heterogeneous connective tissue disorders and all subtypes are characterized by variable abnormalities of skin, ligaments and joints, blood vessels, and internal organs. Typical presenting features include joint hypermobility, skin hyperextensibility, and tissue fragility. Up to one quarter of the EDS patients show aortic aneurysmal

  11. Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome

    Science.gov (United States)

    Meester, Josephina A. N.; Verstraeten, Aline; Schepers, Dorien; Alaerts, Maaike; Van Laer, Lut

    2017-01-01

    Many different heritable connective tissue disorders (HCTD) have been described over the past decades. These syndromes often affect the connective tissue of various organ systems, including heart, blood vessels, skin, joints, bone, eyes, and lungs. The discovery of these HCTD was followed by the identification of mutations in a wide range of genes encoding structural proteins, modifying enzymes, or components of the TGFβ-signaling pathway. Three typical examples of HCTD are Marfan syndrome (MFS), Ehlers-Danlos syndrome (EDS), and Loeys-Dietz syndrome (LDS). These syndromes show some degree of phenotypical overlap of cardiovascular, skeletal, and cutaneous features. MFS is typically characterized by cardiovascular, ocular, and skeletal manifestations and is caused by heterozygous mutations in FBN1, coding for the extracellular matrix (ECM) protein fibrillin-1. The most common cardiovascular phenotype involves aortic aneurysm and dissection at the sinuses of Valsalva. LDS is caused by mutations in TGBR1/2, SMAD2/3, or TGFB2/3, all coding for components of the TGFβ-signaling pathway. LDS can be distinguished from MFS by the unique presence of hypertelorism, bifid uvula or cleft palate, and widespread aortic and arterial aneurysm and tortuosity. Compared to MFS, LDS cardiovascular manifestations tend to be more severe. In contrast, no association is reported between LDS and the presence of ectopia lentis, a key distinguishing feature of MFS. Overlapping features between MFS and LDS include scoliosis, pes planus, anterior chest deformity, spontaneous pneumothorax, and dural ectasia. EDS refers to a group of clinically and genetically heterogeneous connective tissue disorders and all subtypes are characterized by variable abnormalities of skin, ligaments and joints, blood vessels, and internal organs. Typical presenting features include joint hypermobility, skin hyperextensibility, and tissue fragility. Up to one quarter of the EDS patients show aortic aneurysmal

  12. Serial Manifestation of Acute Kidney Injury and Nephrotic Syndrome in a Patient with TAFRO syndrome.

    Science.gov (United States)

    Ito, Seigo; Uchida, Takahiro; Itai, Hiroki; Yamashiro, Aoi; Yamagata, Akira; Matsubara, Hidehito; Imakiire, Toshihiko; Shimazaki, Hideyuki; Kumagai, Hiroo; Oshima, Naoki

    2018-06-06

    A 76-year-old woman suddenly developed anasarca and a fever, and an examination revealed thrombocytopenia, reticulin fibrosis, and acute kidney injury, yielding the diagnosis of TAFRO syndrome. Renal replacement therapy and steroid treatment were soon started. Her proteinuria was minor at first; however, once the kidney function improved, nephrotic syndrome occurred. A kidney biopsy showed membranoproliferative glomerulonephritis-like glomerulopathy with massive macrophage infiltration. Although kidney dysfunction is often observed in TAFRO syndrome patients, its detailed mechanism is unclear. This case suggests that TAFRO syndrome involves both acute kidney injury with minor proteinuria and nephrotic syndrome, and these disorders can develop serially in the same patient.

  13. Williams-Beuren's Syndrome: A Case Report.

    Science.gov (United States)

    Zamani, Hassan; Babazadeh, Kazem; Fattahi, Saeid; Mokhtari-Esbuie, Farzad

    2012-01-01

    Williams-Beuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. It is characterized by congenital heart defects (CHD), skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. We present a case of Williams syndrome that presented to us with heart murmur and cognitive problem. A 5-year-old girl referred to pediatric cardiologist because of heart murmurs. She had a systolic murmur (2-3/6) in right upper sternal border with radiation to right cervical region. She also had a bulge forehead. Angiography showed mild supra valvular aortic stenosis and mild multiple peripheral pulmonary stenosis. Fluorescent in situ hybridization (FISH) was performed and the result was: 46.XX, ish del (7q11.2) (ELN X1) (7q22 X2) ELN deletion compatible with Williams syndrome. Peripheral pulmonary artery stenosis is associated with Noonan syndrome, Alagille syndrome, Cutis laxa, Ehler-Danlos syndrome, and Silver-Russel syndrome. The patient had peripheral pulmonary artery stenosis, but no other signs of these syndromes were present, and also she had a supravalvular aortic stenosis which was not seen in other syndromes except Williams syndrome. Conclusion. According to primary symptoms, paraclinical and clinical finding such as dysmorphic facies, cognitive disorder and congenital heart defect, Williams syndrome was the first diagnosis. We suggest a more attention for evaluating heart murmur in childhood period, especially when the patient has abnormal facial features or mental problem.

  14. Williams-Beuren's Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Hassan Zamani

    2012-01-01

    Full Text Available Williams-Beuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. It is characterized by congenital heart defects (CHD, skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. We present a case of Williams syndrome that presented to us with heart murmur and cognitive problem. A 5-year-old girl referred to pediatric cardiologist because of heart murmurs. She had a systolic murmur (2-3/6 in right upper sternal border with radiation to right cervical region. She also had a bulge forehead. Angiography showed mild supra valvular aortic stenosis and mild multiple peripheral pulmonary stenosis. Fluorescent in situ hybridization (FISH was performed and the result was: 46.XX, ish del (7q11.2 (ELN X1 (7q22 X2 ELN deletion compatible with Williams syndrome. Peripheral pulmonary artery stenosis is associated with Noonan syndrome, Alagille syndrome, Cutis laxa, Ehler-Danlos syndrome, and Silver-Russel syndrome. The patient had peripheral pulmonary artery stenosis, but no other signs of these syndromes were present, and also she had a supravalvular aortic stenosis which was not seen in other syndromes except Williams syndrome. Conclusion. According to primary symptoms, paraclinical and clinical finding such as dysmorphic facies, cognitive disorder and congenital heart defect, Williams syndrome was the first diagnosis. We suggest a more attention for evaluating heart murmur in childhood period, especially when the patient has abnormal facial features or mental problem.

  15. Klippel-Feil Syndrome

    Science.gov (United States)

    ... proteins that are involved in bone development and segmentation of the vertebrae. × Definition Klippel-Feil Syndrome is a rare disorder characterized ... proteins that are involved in bone development and segmentation of the vertebrae. View Full Definition ... Treatment Treatment for Klippel-Feil Syndrome is symptomatic ...

  16. Foix-Chavany syndrome

    International Nuclear Information System (INIS)

    Ferrari, G.; Boninsegna, C.; Beltramello, A.

    1979-01-01

    The Foix-Chavany syndrome is a neurological entity characterized by linguo-bucco-facial apraxia almost always caused by disturbed cerebral circulation. Three typical cases of this syndrome are described and the role of the CT scan to obtain a definite diagnosis is emphasized. (orig.) [de

  17. New autosomal dominant syndrome reminiscent of Coffin-Siris syndrome and Brachymorphism-Onychodysplasia-Dysphalangism syndrome.

    Science.gov (United States)

    Elliott, A M; Teebi, A S

    2000-01-01

    We report a man and his two daughters (one stillborn) with an apparently unique constellation of anomalies including fifth finger/toe terminal phalanx and nail hypoplasia. The craniofacial manifestations include large boxy head, round face, hypertelorism with downslanting palpebral fissures and wide mouth. Other manifestations include brachydactyly, fifth finger clinodactyly and ventricular septal defect. Intelligence is normal. The resemblance to Coffin-Siris, Brachymorphism-Onychodysplasia-Dysphalangism and DOOR syndromes is discussed and we concluded that this family probably represents a new autosomal dominant syndrome.

  18. Churg-Strauss syndrome masquerading as an acute coronary syndrome.

    Science.gov (United States)

    Triantafyllis, Andreas S; Sakadakis, Eleftherios A; Papafilippaki, Argyro; Katsimbri, Pelagia; Panou, Fotios; Anastasiou-Nana, Maria; Lekakis, Ioannis

    2015-02-01

    Churg-Strauss Syndrome (CSS) is a rare vasculitis with multiorgan involvement. Cardiac manifestations are common causing serious complications. We report a case of CSS masquerading as a non-ST elevation myocardial infarction with heart failure. CSS should be considered in the differential diagnosis of an acute coronary syndrome(ACS)with normal coronary arteries when history of asthma, peripheral eosinophilia and multisystemic involvement is present.

  19. Diagnostic Dilemma in Allergy and Coronary Syndromes: Kounis Syndrome or Adrenaline Effect?

    Directory of Open Access Journals (Sweden)

    Ebru Atike Ongun

    2018-04-01

    Full Text Available Management of anaphylaxis includes adrenaline, a life-saving drug, however appropriate dosing and administration are of crucial importance due to serious side effects. We present a 15-year-old female with anaphylactic reaction manifesting as acute coronary syndrome and pulmonary edema following the administration of adrenaline as an intravenous bolus. Focusing on anaphylaxis, adrenaline and coronary symptoms, this report discussed the interactions between three intertwining entities: Kounis syndrome, Takotsubo cardiomyopathy, and adrenaline-induced coronary vasospasm, and challenges in differential diagnosis. Brugada syndrome (cardiac autonomic dysfunction and clinical manifestation of the patient was also evaluated. Early consideration of adrenaline at the appropriate dose and administration route is essential in anaphylaxis management. Kounis syndrome should be considered in those presenting with allergy symptoms and chest pain and adrenaline should be used carefully due to possible risks of worsening coronary symptoms in patients with Kounis syndrome. This report also highlights a very rare side effect of adrenaline; the drug, which constitutes the cornerstone of anaphylaxis management, has a potential to trigger allergy itself due to metabisulfite-containing preservative.

  20. Teachers` and medics' burnout syndrome

    OpenAIRE

    VOPELKOVÁ, Kateřina

    2010-01-01

    The bachelor thesis offers an overview of information related to problems of stress and burnout syndrome. I deal mainly with causes, symptoms, risk factors, prevention and getting stress and burnout syndrome under control. The aim of my bachelor thesis is to find out symptoms of burnout syndrome at teachers and health service employees. I supposed different manifestations of the burnout syndrome due to different demands put on these people in their professions. Another aim was to establish th...

  1. Facet joint syndrome

    International Nuclear Information System (INIS)

    Zigrai, M.; Zakovic, J.; Brezinova, M.; Pavlovicova, M.

    2002-01-01

    It is the purpose of the study to demonstrate the clinical relevance of degenerative changes in the facet joint of patients with low back pain irradiating to the lower extremities, and discuss some problems relating to diagnosis and different diagnosis. 119 patients presenting the listed bellow syndromes are covered by the study: scoliosis, polytopic pain vertebral syndrome, paresis and history of trauma. all patients undergo comprehensive neurological examination with special attention focused on the spine: CT and plain x-rays are taken of the lumbosacral segment to assess the condition of the facet joints. The neurological examination demonstrates in all cases pain syndrome in the lumbar spine referred to one or both lower extremities. In 56% it is a matter of persisting pain, and in 44% - recurrent. More than half of the patients complain of sacroiliac (SI) dislocation and palpatory pain. Unilateral or bilateral degenerative changes are documented by imaging studies in all patients, including: subchondral thickening, osteopathy narrowing the lateral or central part of the spinal canal with ensuing nerve root compression. The lumbosacral zygoapophyseal joints are source of pseudoradicular pain. A correlation between clinical picture and GT changes is noted in all patients with facet joint syndrome. CT is an indispensable method in diagnosing facet joint syndrome. (authors)

  2. Lowe Syndrome (Oculo-cerebro-renal Syndrome of Lowe: A Case Report from Eastern India

    Directory of Open Access Journals (Sweden)

    Dipankar Das

    2014-01-01

    Full Text Available Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL is a rare X-linked recessive metabolic disorder that primarily affects eyes, kidneys and brain. It is caused by the deficiency of enzyme phosphatidylinositol 4, 5-bisphosphate 5-phosphatase. The gene coding for this enzyme, OCRL1 and mutations in it are responsible to cause Lowe Syndrome. We report a 6 years old boy from Eastern India, with Lowe Syndrome. Diagnosis was suggested by typical features in the MRI of the brain along with other clinical feature and investigation.

  3. Metabolic syndrome presenting as abdominal pain

    Directory of Open Access Journals (Sweden)

    Mohammed Y Al-Dossary

    2017-01-01

    Full Text Available Metabolic syndrome represents a sum of risk factors that lead to the occurrence of cardiovascular and cerebrovascular events. The early detection of metabolic syndrome is extremely important in adults who are at risk. Although the physiopathological mechanisms of the metabolic syndrome are not yet clear, insulin resistance plays a key role that could explain the development of type 2 diabetes mellitus in untreated metabolic syndrome patients. Here, we present the case of a 26-year-old male who was diagnosed with metabolic syndrome and severe hypertriglyceridemia after presenting with abdominal pain. Although hypertriglyceridemia and hyperglycemia are the most common predictors of metabolic syndrome, clinicians need to be vigilant for unexpected presentations in patients at risk for metabolic syndrome. This case sheds light on the importance of early detection.

  4. Eagle's Syndrome

    OpenAIRE

    Pinheiro,Thaís Gonçalves; Soares,Vítor Yamashiro Rocha; Ferreira,Denise Bastos Lage; Raymundo,Igor Teixeira; Nascimento,Luiz Augusto; Oliveira,Carlos Augusto Costa Pires de

    2013-01-01

    Summary Introduction:?Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is diffic...

  5. Pendred's syndrome

    International Nuclear Information System (INIS)

    Hashmi, M.I.; Cheema, I.A.; Qasim, G.

    2003-01-01

    This report describes Pendred's syndrome in three siblings of a consanguineous marriage, belonging to Rahimyar Khan. The children presented with deafmutism and goiters. The investigations included scintigram, perchlorate discharge test and audiometery. The perchlorate discharge was positive in index case. Bilateral sensorineural hearing defect was detected on Pure Tone Average (PTA) audiometry. Meticulous clinical and laboratory evaluation is mandatory for the detection of rare disorders like Pendred's syndrome. (author)

  6. Calcineurin-inhibitor pain syndrome.

    Science.gov (United States)

    Prommer, Eric

    2012-07-01

    There has been increased recognition of calcineurin, a phosphoprotein serine/threonine phosphatase enzyme, in the regulation of many physiologic systems. Calcineurin mediates activation of lymphocytes, which play a role in immune response. Widely distributed in the central nervous system, calcinuerin also plays an important role in sensory neural function, via its role in the regulation of newly discovered 2-pore potassium channels, which greatly influence neuronal resting membrane potentials. Calcinuerin inhibition is the mechanism of action of immunomodulatory drugs such as cyclosporine and tacrolimus, which are widely used in transplantation medicine to prevent rejection. While important for immunosuppression, the use of calcineurin inhibitors has been associated with the development of a new pain syndrome called the calcineurin pain syndrome, which appears to be an untoward complication of the interruption of the physiologic function of calcineurin. This is a narrative review focusing on the epidemiology, pathophysiology, characterization of a newly recognized pain syndrome associated with the use of calcineurin inhibitors. The use of immunosuppressants however is associated with several well-known toxicities to which the calcineurin pain syndrome can be added. The development of this syndrome most likely involves altered nociceptive processing due to the effect of calcineurin inhibition on neuronal firing, as well as effects of calcineurin on vascular tone. The most striking aspect of the treatment of this syndrome is the response to calcium channel blockers, which suggest that the effects of calcineurin inhibition on vascular tone play an important role in the development of the calcineurin pain syndrome. The calcineurin syndrome is a newly recognized complication associated with the use of calcineurin inhibitors. There is no standard therapy at this time but anecdotal reports suggest the effectiveness of calcium channel blockers.

  7. Cognitive and behavioral heterogeneity in genetic syndromes

    Directory of Open Access Journals (Sweden)

    Luiz F.L. Pegoraro

    2014-04-01

    Full Text Available OBJECTIVE: this study aimed to investigate the cognitive and behavioral profiles, as well as the psychiatric symptoms and disorders in children with three different genetic syndromes with similar sociocultural and socioeconomic backgrounds. METHODS: thirty-four children aged 6 to 16 years, with Williams-Beuren syndrome (n = 10, Prader-Willi syndrome (n = 11, and Fragile X syndrome (n = 13 from the outpatient clinics of Child Psychiatry and Medical Genetics Department were cognitively assessed through the Wechsler Intelligence Scale for Children (WISC-III. Afterwards, a full-scale intelligence quotient (IQ, verbal IQ, performance IQ, standard subtest scores, as well as frequency of psychiatric symptoms and disorders were compared among the three syndromes. RESULTS: significant differences were found among the syndromes concerning verbal IQ and verbal and performance subtests. Post-hoc analysis demonstrated that vocabulary and comprehension subtest scores were significantly higher in Williams-Beuren syndrome in comparison with Prader-Willi and Fragile X syndromes, and block design and object assembly scores were significantly higher in Prader-Willi syndrome compared with Williams-Beuren and Fragile X syndromes. Additionally, there were significant differences between the syndromes concerning behavioral features and psychiatric symptoms. The Prader-Willi syndrome group presented a higher frequency of hyperphagia and self-injurious behaviors. The Fragile X syndrome group showed a higher frequency of social interaction deficits; such difference nearly reached statistical significance. CONCLUSION: the three genetic syndromes exhibited distinctive cognitive, behavioral, and psychiatric patterns.

  8. Down syndrome: a cardiovascular perspective

    NARCIS (Netherlands)

    Vis, J. C.; Duffels, M. G. J.; Winter, M. M.; Weijerman, M. E.; Cobben, J. M.; Huisman, S. A.; Mulder, B. J. M.

    2009-01-01

    This review focuses on the heart and vascular system in patients with Down syndrome. A clear knowledge on the wide spectrum of various abnormalities associated with this syndrome is essential for skilful management of cardiac problems in patients with Down syndrome. Epidemiology of congenital heart

  9. Genetics Home Reference: Gitelman syndrome

    Science.gov (United States)

    ... MJ, Lifton RP, Simon DB; Yale Gitelman's and Bartter's Syndrome Collaborative Study Group. Gitelman's syndrome revisited: an evaluation ... chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype. Pediatr Res. 2000 ... NV, Levtchenko EN. Gitelman syndrome. Orphanet J Rare Dis. 2008 Jul 30;3: ...

  10. Churg-strauss syndrome

    Directory of Open Access Journals (Sweden)

    Brar B

    2009-01-01

    Full Text Available We report a case of 29-year-old man who presented with cutaneous vasculitis and was subsequently diagnosed as a case of Churg-Strauss syndrome. The patient fulfilled five out of the six criteria of the syndrome developed by American College of Rheumatology.

  11. Gorlin-Goltz syndrome

    Directory of Open Access Journals (Sweden)

    Priya Shirish Joshi

    2012-01-01

    Full Text Available Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder, which is characterized by multiple odontogenic Keratocysts and basal cell carcinomas, skeletal, dental, ophthalmic, and neurological abnormalities, intracranial ectopic calcifications of the falx cerebri, and facial dysmorphism. Pathogenesis of the syndrome is attributed to abnormalities in the long arm of chromosome 9 (q22.3-q31 and loss or mutations of human patched gene (PTCH1 gene. Diagnosis is based upon established major and minor clinical and radiological criteria and ideally confirmed by deoxyribo nucleic acid analysis. We report a case of a 9-year-old girl presenting with three major and one minor feature of Gorlin-Goltz syndrome. Radiologic findings of the syndrome are easily identifiable on Orthopantomogram, chest X-ray, and Computed tomography scans. These investigations prompt an early verification of the disease, which is very important to prevent recurrence and better survival rates from the coexistent diseases.

  12. Exploding head syndrome.

    Science.gov (United States)

    Sharpless, Brian A

    2014-12-01

    Exploding head syndrome is characterized by the perception of abrupt, loud noises when going to sleep or waking up. They are usually painless, but associated with fear and distress. In spite of the fact that its characteristic symptomatology was first described approximately 150 y ago, exploding head syndrome has received relatively little empirical and clinical attention. Therefore, a comprehensive review of the scientific literature using Medline, PsycINFO, Google Scholar, and PubMed was undertaken. After first discussing the history, prevalence, and associated features, the available polysomnography data and five main etiological theories for exploding head syndrome are summarized. None of these theories has yet reached dominance in the field. Next, the various methods used to assess and treat exploding head syndrome are discussed, as well as the limited outcome data. Finally, recommendations for future measure construction, treatment options, and differential diagnosis are provided. Copyright © 2014 Elsevier Ltd. All rights reserved.

  13. Numerical Cerebrospinal System Modeling in Fluid-Structure Interaction.

    Science.gov (United States)

    Garnotel, Simon; Salmon, Stéphanie; Balédent, Olivier

    2018-01-01

    Cerebrospinal fluid (CSF) stroke volume in the aqueduct is widely used to evaluate CSF dynamics disorders. In a healthy population, aqueduct stroke volume represents around 10% of the spinal stroke volume while intracranial subarachnoid space stroke volume represents 90%. The amplitude of the CSF oscillations through the different compartments of the cerebrospinal system is a function of the geometry and the compliances of each compartment, but we suspect that it could also be impacted be the cardiac cycle frequency. To study this CSF distribution, we have developed a numerical model of the cerebrospinal system taking into account cerebral ventricles, intracranial subarachnoid spaces, spinal canal and brain tissue in fluid-structure interactions. A numerical fluid-structure interaction model is implemented using a finite-element method library to model the cerebrospinal system and its interaction with the brain based on fluid mechanics equations and linear elasticity equations coupled in a monolithic formulation. The model geometry, simplified in a first approach, is designed in accordance with realistic volume ratios of the different compartments: a thin tube is used to mimic the high flow resistance of the aqueduct. CSF velocity and pressure and brain displacements are obtained as simulation results, and CSF flow and stroke volume are calculated from these results. Simulation results show a significant variability of aqueduct stroke volume and intracranial subarachnoid space stroke volume in the physiological range of cardiac frequencies. Fluid-structure interactions are numerous in the cerebrospinal system and difficult to understand in the rigid skull. The presented model highlights significant variations of stroke volumes under cardiac frequency variations only.

  14. [Neurologic aspects of vibration syndrome].

    Science.gov (United States)

    Langauer-Lewowicka, H; Zajac-Nedza, M

    1997-01-01

    The authors present divergent opinions on the pathogenesis of vibratory syndrome, and primarily on its angio-neurological form, i.e. vascular, neurogenic and immunological theory. In the light of these concepts the clinical manifestations of vibratory syndrome are discussed in view of both systemic and local developments. The issues concerning neurological diagnostics with reference to the usefulness of electrophysiological methods are thoroughly analysed. Difficulties in early diagnosis and identification of symptoms that distinguish vibratory syndrome from other syndromes with similar manifestations are highlighted.

  15. Mazabraud syndrome associated with McCune-Albright syndrome: a case report and review of the literature.

    Science.gov (United States)

    Biazzo, Alessio; Di Bernardo, Andrea; Parafioriti, Antonina; Confalonieri, Norberto

    2017-08-23

    Mazabraud syndrome is a very rare benign disorder characterized by the association of monostotic or polyostotic fibrous dysplasia and one or multiple intramuscular myxomas. McCune -Albright syndrome is a rare benign disorder characterized by the association of polyostotic fibrous dysplasia, cafè-au-lait skin pigmentations and endocrine dysfunction, such as precocious puberty, diabetes mellitus, goiter and breast fibroadenomatosis. The association of Mazabraud syndrome and McCune-Albright in the same patient is an anecdotal event. We report the case of a 28-year-old girl with Mazabraud syndrome associated with McCune-Albright syndrome. Our literature review shows that in these patients there is a higher risk of malignant transformation of fibrous dysplasia into osteosarcoma, confirming previous reports. Conversely, no malignant transformation has been reported for myxomas in isolated Mazabraud syndrome or in the association with McCune-Albright syndrome. We conclude that these patients should be scheduled to a close and long-term follow-up.

  16. Thoughts on the behavioural phenotypes in Prader-Willi syndrome and velo-cardio-facial syndrome: A novel approach

    NARCIS (Netherlands)

    Verhoeven, W.M.A.; Egger, J.I.M.; Tuinier, S.

    2007-01-01

    In both Prader-Willi syndrome (PWS) and 22q11 deletion syndrome [velo-cardio-facial syndrome (VCFS)], an increased risk for psychotic disorders is reported, which are as a rule not included in the behavioural phenotype of these two syndromes. For the description of a behavioural phenotype, the

  17. Racial and ethnic differences in the prevalence of metabolic syndrome and its components of metabolic syndrome in women with polycystic ovary syndrome: a regional cross-sectional study.

    Science.gov (United States)

    Chan, Jessica L; Kar, Sujata; Vanky, Eszter; Morin-Papunen, Laure; Piltonen, Terhi; Puurunen, Johanna; Tapanainen, Juha S; Maciel, Gustavo Arantes Rosa; Hayashida, Sylvia Asaka Yamashita; Soares, Jose Maria; Baracat, Edmund Chada; Mellembakken, Jan Roar; Dokras, Anuja

    2017-08-01

    Polycystic ovary syndrome is a heterogeneous disorder and its presentation varies with race and ethnicity. Reproductive-age women with polycystic ovary syndrome are at increased risk of metabolic syndrome; however, it is not clear if prevalence of metabolic syndrome and clustering of its components differs based on race and ethnicity. Moreover, the majority of these women do not undergo routine screening for metabolic syndrome. We sought to compare the prevalence of metabolic syndrome and clustering of its components in women with polycystic ovary syndrome in the United States with women in India, Brazil, Finland, and Norway. This is a cross-sectional study performed in 1089 women with polycystic ovary syndrome from 1999 through 2016 in 5 outpatient clinics in the United States, India, Brazil, Finland, and Norway. Polycystic ovary syndrome was defined by the Rotterdam criteria. Main outcome measures were: metabolic syndrome prevalence, blood pressure, body mass index, fasting high-density lipoprotein cholesterol, fasting triglycerides, and fasting glucose. Data from all sites were reevaluated for appropriate application of diagnostic criteria for polycystic ovary syndrome, identification of polycystic ovary syndrome phenotype, and complete metabolic workup. The US White women with polycystic ovary syndrome were used as the referent group. Logistic regression models were used to evaluate associations between race and metabolic syndrome prevalence and its components and to adjust for potential confounders, including age and body mass index. The median age of the entire cohort was 28 years. Women from India had the highest mean Ferriman-Gallwey score for clinical hyperandrogenism (15.6 ± 6.5, P metabolic syndrome was highest in US Black women at 4.52 (95% confidence interval, 2.46-8.35) compared with US White women. When adjusted for age and body mass index, the prevalence was similar in the 2 groups. Significantly more Black women met body mass index and blood

  18. Language and Literacy in Turner Syndrome

    Science.gov (United States)

    Murphy, Melissa M.

    2009-01-01

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

  19. Pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH)--a new autoinflammatory syndrome distinct from PAPA syndrome.

    Science.gov (United States)

    Braun-Falco, Markus; Kovnerystyy, Oleksandr; Lohse, Peter; Ruzicka, Thomas

    2012-03-01

    PAPA syndrome is a recently identified hereditary autoinflammatory syndrome clinically characterized by pyogenic arthritis, severe acne, and pyoderma gangrenosum. It is caused by mutations in the PSTPIP1 gene and may be closely linked to the aseptic abscesses syndrome, which has been shown to be associated with CCTG repeat amplification in the promoter region of PSTPIP1. We describe two unrelated patients with a clinical presentation quite similar to, yet distinct from, PAPA syndrome. Both patients had pyoderma gangrenosum and acute or remittent acne conglobata, but, in contrast to PAPA syndrome, lacked any episodes of pyogenic arthritis. Instead, they had suppurative hidradenitis. Mutations in PSTPIP1 exons 1 to 15 were excluded. In the promoter region, an increased repetition of the CCTG microsatellite motif was present on one allele in both patients. Alterations of the most commonly affected exons of the MEFV, NLRP3, and TNFRSF1A genes also were not detectable. One patient was treated with the interleukin (IL)-1 receptor antagonist anakinra and responded well, although without complete remission. This implies that IL-1ß may be of pathogenetic importance. Small number of patients, no gene mutation identified, and unclear efficacy of therapy are limitations. The clinical triad of pyoderma gangrenosum, acne, and suppurative hidradenitis represents a new disease entity within the spectrum of autoinflammatory syndromes, similar to PAPA and aseptic abscesses syndrome. For this disease, we propose the acronym "PASH" syndrome. PASH syndrome may respond to IL-1ß blockade. Copyright © 2011 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

  20. Frequency of Metabolic Syndrome and Its Components in Patients with Carpal Tunnel Syndrome

    International Nuclear Information System (INIS)

    Iftikhar, S.; Javed, M. A.; Kasuri, M. N.

    2016-01-01

    Objective: To determine the frequency of metabolic syndrome and its components in patients with carpal tunnel syndrome. Study Design: Case-series. Place and Duration of Study: Department of Neurology, Mayo Hospital, Lahore, from January to June 2012. Methodology: Seventy-five (64 females and 11 males) patients with clinically diagnosed and electrodiagnostically confirmed carpal tunnel syndrome were inducted. Their waist circumference, blood pressure, fasting blood glucose, fasting triglycerides and high density lipoprotein cholesterol levels were recorded. Patients were categorized having metabolic syndrome according to Adult Treatment Panel III criteria, if any 3 were present out of hypertension, elevated fasting triglycerides, reduced high density lipoprotein cholesterol, elevated fasting blood glucose, and elevated waist circumference. Result: Mean age of the patients was 42.04±9.31 years, mean waist circumference was 95.32±9.03 cm, mean systolic blood pressure was 134.13±13.72 mmHg, mean diastolic blood pressure was 89.13±8.83 mmHg, mean fasting blood glucose was 94.35±21.81 mg/dl, mean fasting triglycerides was 177.48±48.69 mg/dl, and mean high density lipoprotein cholesterol was 41.95±11.17 mg/dl. Metabolic syndrome was found in 54 (72 percentage) patients including 9 (16.7 percentage) males and 45 (83.3 percentage) females. Out of 75 patients, 54 (72 percentage) had elevated waist circumference, 52 (69.3 percentage) had elevated blood pressure, 19 (25.3 percentage) had elevated fasting blood glucose, 53 (70.6 percentage) had elevated fasting triglycerides and 54 (72 percentage) had reduced high density lipoprotein cholesterol. Highest frequency of metabolic syndrome was found in age range of 40 - 49 years in both genders. Conclusion: Metabolic syndrome is frequently found in the patients with carpal tunnel syndrome. (author)

  1. Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients

    DEFF Research Database (Denmark)

    Nielsen, Rie Harboe; Couppé, Christian; Jensen, Jacob Kildevang

    2014-01-01

    There is a clinical overlap between classic Ehlers-Danlos syndrome (cEDS) and benign joint hypermobility syndrome (BJHS), with hypermobility as the main symptom. The purpose of this study was to investigate the role of type V collagen mutations and tendon pathology in these 2 syndromes. In patients...... and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients....

  2. Endocrine manifestations of Down syndrome.

    Science.gov (United States)

    Whooten, Rachel; Schmitt, Jessica; Schwartz, Alison

    2018-02-01

    To summarize the recent developments in endocrine disorders associated with Down syndrome. Current research regarding bone health and Down syndrome continues to show an increased prevalence of low bone mass and highlights the importance of considering short stature when interpreting dual energy x-ray absorptiometry. The underlying cause of low bone density is an area of active research and will shape treatment and preventive measures. Risk of thyroid disease is present throughout the life course in individuals with Down syndrome. New approaches and understanding of the pathophysiology and management of subclinical hypothyroidism continue to be explored. Individuals with Down syndrome are also at risk for other autoimmune conditions, with recent research revealing the role of the increased expression of the Autoimmune Regulatory gene on 21st chromosome. Lastly, Down-syndrome-specific growth charts were recently published and provide a better assessment of growth. Recent research confirms and expands on the previously known endocrinopathies in Down syndrome and provides more insight into potential underlying mechanisms.

  3. [Burnout syndrome among family physicians].

    Science.gov (United States)

    Sánchez-Cruz, Juan; Mugártegui-Sánchez, Sharon

    2013-01-01

    burnout syndrome is a state of physical and emotional exhaustion that can occur among workers who interact directly with others. This could affect job performance. The objective was to determine the prevalence of this syndrome and its associated factors among family physicians. a cross-sectional survey applying the Maslach Burnout Inventory was conducted in a selected convenience non-probability sampling of family physicians. Central tendency and dispersion measures were used in determining the prevalence of burnout syndrome; the associated factors were analysed by χ(2) test. there were 59 cases of burnout syndrome, 36 had involvement in a single component, 15 in 2 and 8 were affected in 3 components; we observed that 35 % of positive cases reported doing an average of 10 extra shifts a month (p = 0.013). Having a second job was associated with positive cases of burnout syndrome. the results are consistent with similar studies. Working extra shifts or having a second job were the related factors most associated to this syndrome.

  4. Burnout syndrome prevalence in physiotherapists.

    Science.gov (United States)

    González-Sánchez, Blanca; López-Arza, María Victoria González; Montanero-Fernández, Jesús; Varela-Donoso, Enrique; Rodríguez-Mansilla, Juan; Mingote-Adán, José Carlos

    2017-04-01

    To evaluate burnout syndrome in its three aspects, jointly as well as independently, in physiotherapists from the Extremadura region (Spain). Analytic descriptive epidemiological transversal trial in primary care and institutional practice, with physiotherapists practicing in Extremadura who met the inclusion criteria, after having signed an informed consent form. Emotional exhaustion, depersonalization and low professional accomplishment were the outcomes measured. Physiotherapists from Extremadura show a 65.23 point level of burnout syndrome, according to the Maslach Burnout Inventory questionnaire. Therefore, they are positioned in the middle of the rating scale for the syndrome, and very near to the high level at starting score of 66 points. Physiotherapists in Extremadura present moderate scores for the three dimensions of burnout syndrome, namely, emotional exhaustion, depersonalization and low professional accomplishment. For this reason, they are in the moderate level of the syndrome and very near to the high level, which starts at a score of 66 points. No relation between burnout syndrome and age has been found in our study.

  5. DETEKSI DAN MANAJEMEN REFEEDING SYNDROME

    Directory of Open Access Journals (Sweden)

    Darmadi Darmadi

    2012-09-01

    Full Text Available AbstrakRefeeding syndrome (RFS dideskripsikan sebagai perubahan biokimiawi, manifestasi klinis dan komplikasi sebagai konsekuensi pemberian nutrisi pada pasien kurang gizi. Refeeding syndrome ini menyebabkan dampak buruk dan kematian. Sindroma ini lebih sering terjadi pada kelompok risiko. Refeeding syndrome merupakan suatu sindroma yang sering tak terdiagnosis oleh karena itu perlu peningkatan pengetahuan dan kesadaran dari tenaga medis untuk mengurangi morbiditas dan mortalitas dari RFS. Karena alasan tersebut ditulis tinjauan pustaka ini yang akan membahas mengenai patofisiologi, faktor risiko, manifestasi klinis, dan manajemennya.Kata kunci : refeeding syndrome, kurang gizi, hipofosfatemia, dukungan nutrisiAbstractRefeeding syndrome (RFS describel as biochemical changes, clinical manifestations, and complications that can occur as a consequence of feeding a malnourished individual. RFS can result in serious harm and death. RFS more commonly occurs in at-risk populations. Increased awareness amongst healthcare professionals is likely to reduce morbidity and mortality. This review examines the pathophysiology, risk factors, clinical manifestations, and management of RFS.Key word : refeeding syndrome, malnourished, hypophosphatemia, nutritional support

  6. Compartment syndromes

    Science.gov (United States)

    Mubarak, S. J.; Pedowitz, R. A.; Hargens, A. R.

    1989-01-01

    The compartment syndrome is defined as a condition in which high pressure within a closed fascial space (muscle compartment) reduces capillary blood perfusion below the level necessary for tissue viability'. This condition occurs in acute and chronic (exertional) forms, and may be secondary to a variety of causes. The end-result of an extended period of elevated intramuscular pressure may be the development of irreversible tissue injury and Volkmann's contracture. The goal of treatment of the compartment syndrome is the reduction of intracompartmental pressure thus facilitating reperfusion of ischaemic tissue and this goal may be achieved by decompressive fasciotomy. Controversy exists regarding the critical pressure-time thresholds for surgical decompression and the optimal diagnostic methods of measuring intracompartmental pressures. This paper will update and review some current knowledge regarding the pathophysiology, aetiology, diagnosis, and treatment of the acute compartment syndrome.

  7. Usher Syndrome

    Directory of Open Access Journals (Sweden)

    Ana Fakin

    2012-06-01

    Full Text Available Usher syndrome is an autosomal recessive disease with prevalence of 3–6/100.000 and is the most common syndrome that affects vision and hearing. Three subtypes are distinguished on the basis of different degree of hearing loss. All patients develop retinitis pigmentosa with night vision difficulties and constriction of visual field, and ultimately a decline in visual acuity and color vision. Future holds promise for gene therapy. We present a patient with typical clinical picture of Usher syndrome, who started noticing night vision problems at age 13. At age 25 he was operated on for posterior cortical cataracts. At age 34 he has only 5–10° of visual field remaining with 1.0 visual acuity in both eyes. Fundus autofluorescence imaging revealed a typical hyperautofluorescent ring on the border between normal and affected retina.

  8. ACUTE COMPARTMENT SYNDROME

    African Journals Online (AJOL)

    muscle destruction, muscle fibrosis, contractures and permanent disability and at worst case scenario of amputation (3,4). As reported by Frink et al (3) on their study on acute compartment syndrome it can occur even when there is no fracture. Also general surgeons have reported acute compartment syndrome.

  9. Trigeminalt trofisk syndrom--

    DEFF Research Database (Denmark)

    Kjaerskov, Mette Wanscher; Bygum, Anette

    2009-01-01

    Trigeminal trophic syndrome (TTS) is a rare but well-described syndrome consisting of the triad: paraesthesia, anaesthesia and crescent-shaped ulceration of the ala nasi. We report a case of a 62-year-old woman presenting with TTS after operative excision of an acusticus neurinoma. She attended s...

  10. Dysmobility syndrome: current perspectives

    Directory of Open Access Journals (Sweden)

    Hill KD

    2017-01-01

    Full Text Available Keith D Hill,1 Kaela Farrier,1 Melissa Russell,2 Elissa Burton1 1School of Physiotherapy and Exercise Science, Faculty of Health Sciences, Curtin University, Perth, WA, Australia; 2Department of Epidemiology and Biostatistics, School of Population and Global Health, The University of Melbourne, Parkville, VIC, Australia Background: A new term, dysmobility syndrome, has recently been described as a new approach to identify older people at risk of poor health outcomes. The aim was to undertake a systematic review of the existing research literature on dysmobility syndrome.Method: All articles reporting dysmobility syndrome were identified in a systematic review of Medline (Proquest, CINAHL, PubMed, PsycInfo, EMBASE, and Scopus databases. Key characteristics of identified studies were extracted and summarized.Results: The systematic review identified five papers (three cross-sectional, one case control, and one longitudinal study. No intervention studies were identified. Prevalence of dysmobility syndrome varied between studies (22%–34% in three of the studies. Dysmobility syndrome was shown to be associated with reduced function, increased falls and fractures, and a longitudinal study showed its significant association with mortality.Conclusion: Early research on dysmobility syndrome indicates that it may be a useful classification approach to identify older people at risk of adverse health outcomes and to target for early interventions. Future research needs to standardize the optimal mix of measures and cut points, and investigate whether balance performance may be a more useful factor than history of falls for dysmobility syndrome. Keywords: mobility, elderly, functional decline

  11. Psychiatric disorders associated with Cushing's syndrome.

    Science.gov (United States)

    Bratek, Agnieszka; Koźmin-Burzyńska, Agnieszka; Górniak, Eliza; Krysta, Krzysztof

    2015-09-01

    Cushing's syndrome is the term used to describe a set of symptoms associated with hypercortisolism, which in most cases is caused by hypophysial microadenoma over-secreting adrenocorticotropic hormone. This endocrine disorder is often associated with psychiatric comorbidities. The most important include mood disorders, psychotic disorders, cognitive dysfunctions and anxiety disorders. The aim of this article was to review the prevalence, symptoms and consequences of psychiatric disorders in the course of Cushing's syndrome. We therefore performed a literature search using the following keywords: Cushing's syndrome and psychosis, Cushing's syndrome and mental disorders, Cushing's syndrome and depression, Cushing's syndrome and anxiety. The most prevalent psychiatric comorbidity of Cushing's syndrome is depression. Psychiatric manifestations can precede the onset of full-blown Cushing's syndrome and therefore be misdiagnosed. Despite the fact that treatment of the underlying endocrine disease in most cases alleviates psychiatric symptoms, the loss of brain volume persists. It is important to be alert to the symptoms of hypercortisolism in psychiatric patients to avoid misdiagnosis and enable them receiving adequate treatment.

  12. [On establishing comparative reference system for syndrome classification study from the thinking characteristics of syndrome differentiation dependent therapy].

    Science.gov (United States)

    Liu, Ping; Hu, Yi-yang; Ni, Li-qiang

    2006-05-01

    To create a comparative referential system for syndrome classification study by viewing from the thinking characteristics of TCM on syndrome differentiation dependent therapy (SDDT), through analyzing the thinking process of SDDT, and the basic features of disease, syndrome and prescription, combining the basic principles of modern evidence-based medicine and feasibility of establishing integrative disease-syndrome animal model. The practice of creating a comparative referential system based on clinical efficacy of prescription was discussed around syndrome pathogenesis and its relationship with disease and prescription, which was one of the important scientific problems in TCM syndrome study. The authors hold that, it may be one of the available approaches for the present study on integration of disease with syndrome by way of insisting on the thinking pathway of stressing the characteristics of TCM and intermerging with modern scientific design; on taking the efficacy of prescription as the comparative reference system to accumulate and improve unceasingly according to the TCM method of syndrome diagnosis inferred from effect of prescription with reverse thought (i.e., to differentiate syndrome from the effect of prescription), and thus build up the syndrome diagnostic standard on the solid clinical and scientific base.

  13. Down Syndrome: A Cardiovascular Perspective

    Science.gov (United States)

    Vis, J. C.; Duffels, M. G. J.; Winter, M. M.; Weijerman, M. E.; Cobben, J. M.; Huisman, S. A.; Mulder, B. J. M.

    2009-01-01

    This review focuses on the heart and vascular system in patients with Down syndrome. A clear knowledge on the wide spectrum of various abnormalities associated with this syndrome is essential for skillful management of cardiac problems in patients with Down syndrome. Epidemiology of congenital heart defects, cardiovascular aspects and…

  14. Hepatopulmonary syndrome: a case report

    NARCIS (Netherlands)

    Huurnink, Arnold

    2015-01-01

    Huurnink A, Van den Berg CHSB, Booij J. Hepatopulmonary syndrome: a case report. Hepatopulmonary syndrome is characterised by a lowered oxygenation caused by intrapulmonary vascular dilatation in the setting of a liver disease. We present a case of a 42-year old woman with a Budd-Chiari syndrome,

  15. Genetics Home Reference: Griscelli syndrome

    Science.gov (United States)

    ... Tezcan I, Ersoy F, Houdusse A, Fischer A, de Saint Basile G. Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect ( ... N, Bianchi D, Fischer A, Le Deist F, de Saint Basile G. Mutations in RAB27A ... syndrome associated with haemophagocytic syndrome. Nat Genet. 2000 Jun; ...

  16. Cardiofaciocutaneous syndrome: A rare entity

    Directory of Open Access Journals (Sweden)

    S Pavithra

    2012-01-01

    Full Text Available The cardiofaciocutaneous (CFC syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation and characteristic dysmorphic features. We, thus, report a rare case of this syndrome in a 1-year-old child who presented with typical features of CFC syndrome.

  17. [Prevention of the refeeding syndrome].

    Science.gov (United States)

    Martínez Núñez, Maria E; Hernández Muniesa, B

    2010-01-01

    The refeeding syndrome can be defined as the metabolic alterations developed by the rapid nutrition repletion (oral, enteral as well as parenteral feeding) of severaly malnourished patients. Refeeding syndrome is a potentially fatal clinical condition and it is often underdiagnosed on non-specialized nutrition units. The most important key for its prevention is to identify patients at high risk for developing refeeding syndrome, before nutrition repletion. The present case describes the steps to prevent the refeeding syndrome as well as the clinical recommendations to restart nutrition support.

  18. Brugada Syndrome in a Patient with Vascular Ehlers-Danlos Syndrome: Sudden Death Risk Amplified.

    Science.gov (United States)

    D'Souza, Jason; Malhotra, Divyanshu; Goud, Aditya; Dahagam, Chanukya; Everett, George

    2017-04-19

    The vast majority of sudden cardiac arrests occur in patients with structural heart disease and in approximately 10% of the cases, it can occur in those with structurally normal hearts. Brugada syndrome is an autosomal dominant sodium channelopathy that has been implicated in sudden deaths. Given their low prevalence, our knowledge about Brugada syndrome is still evolving. Apart from schizophrenia, there have been no reports of associated medical conditions. We recently encountered a patient with vascular Ehlers-Danlos syndrome who was also found to have Brugada syndrome. Both these conditions share some common clinical presentations including a propensity for sudden death.

  19. Marfan Syndrome: A Clinical Update.

    Science.gov (United States)

    Bitterman, Adam D; Sponseller, Paul D

    2017-09-01

    Marfan syndrome is a connective tissue disorder that can affect many organ systems. Affected patients present with orthopaedic manifestations of the syndrome during all phases of life. Pain caused by musculoskeletal abnormalities often requires definitive orthopaedic treatment. Orthopaedic surgeons must understand the phenotypes of Marfan syndrome so they can recognize when screening is warranted and can appropriately address the skeletal manifestations. Through medical advancements, patients with Marfan syndrome are living longer and more active lives. Knowledge of the latest diagnostic criteria for the disorder, as well as of advances in understanding the skeletal phenotype, clinical trials of medication therapy, and lifestyle considerations is important for orthopaedic surgeons who treat these patients because these clinicians often are the first to suspect Marfan syndrome and recommend screening.

  20. Menière-lignende symptomer efter meningeom

    DEFF Research Database (Denmark)

    Friis, Morten; Klokker, Mads; Fugleholm, Kåre

    2010-01-01

    A 36-year-old woman who presented with a right sided hearing loss, tinnitus and attacks of dizziness was initially diagnosed with Ménière's disease. A meningioma was found along the posterior surface of the petrosal bone, centred partly on the external aperture of the vestibular aqueduct with no ......A 36-year-old woman who presented with a right sided hearing loss, tinnitus and attacks of dizziness was initially diagnosed with Ménière's disease. A meningioma was found along the posterior surface of the petrosal bone, centred partly on the external aperture of the vestibular aqueduct...

  1. Esthesioneuroblastoma in Maffucci's syndrome

    International Nuclear Information System (INIS)

    Kurian, Sobha; Crowell, Edward B.; Ertan, Esmer; Rassekh, Christopher; Ducatman, Barbara

    2004-01-01

    Maffucci's syndrome consists of multiple cutaneous hemangiomas, dyschondroplasia, and enchondromas with potential for malignant change. We report a case of a 33-year-old man with Maffucci's syndrome who presented with a several month history of nasal congestion, facial pain, and diminished vision in his left eye. Radiological studies showed a large soft tissue mass centered in the sinonasal area, extending bilaterally into maxillary sinuses and orbits with compression of left optic nerve. Biopsy of the mass showed esthesioneuroblastoma (olfactory neuroblastoma). Chemotherapy resulted in initial improvement, but the tumor recurred and did not respond to further treatment, resulting in his death. Sarcomatous tumors are reported in Maffucci's syndrome, but this is a rare case of a neuroendocrine tumor in a patient with Maffucci's syndrome. (orig.)

  2. Hypothyroidism in metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Sunil Kumar Kota

    2012-01-01

    Full Text Available Aim: Metabolic syndrome (MetS and hypothyroidism are well established forerunners of atherogenic cardiovascular disease. Considerable overlap occurs in the pathogenic mechanisms of atherosclerotic cardiovascular disease by metabolic syndrome and hypothyroidism. Insulin resistance has been studied as the basic pathogenic mechanism in metabolic syndrome. [1] This cross sectional study intended to assess thyroid function in patients with metabolic syndrome and to investigate the association between hypothyroidism and metabolic syndrome. Materials and Methods: One hundred patients with metabolic syndrome who fulfilled the National Cholesterol Education Program- Adult Treatment Panel (NCEP-ATP III criteria [ 3 out of 5 criteria positive namely blood pressure ≥ 130/85 mm hg or on antihypertensive medications, fasting plasma glucose > 100 mg/dl or on anti-diabetic medications, fasting triglycerides > 150 mg/dl, high density lipoprotein cholesterol (HDL-C 102 cms in men and 88 cms in women] were included in the study group. [2] Fifty patients who had no features of metabolic syndrome (0 out of 5 criteria for metabolic syndrome were included in the control group. Patients with liver disorders, renal disorders, congestive cardiac failure, pregnant women, patients on oral contraceptive pills, statins and other medications that alter thyroid functions and lipid levels and those who are under treatment for any thyroid related disorder were excluded from the study. Acutely ill patients were excluded taking into account sick euthyroid syndrome. Patients were subjected to anthropometry, evaluation of vital parameters, lipid and thyroid profile along with other routine laboratory parameters. Students t-test, Chi square test and linear regression, multiple logistic regression models were used for statistical analysis. P value < 0.05 was considered significant. Results: Of the 100 patients in study group, 55 were females (55% and 45 were males (45%. Of the 50

  3. Metabolic syndrome and cardiovascular risk

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    Abdullah M Alshehri

    2010-01-01

    Full Text Available The constellation of dyslipidemia (hypertriglyceridemia and low levels of high-density lipoprotein cholesterol, elevated blood pressure, impaired glucose tolerance, and central obesity is now classified as metabolic syndrome, also called syndrome X. In the past few years, several expert groups have attempted to set forth simple diagnostic criteria for use in clinical practice to identify patients who manifest the multiple components of the metabolic syndrome. These criteria have varied somewhat in specific elements, but in general, they include a combination of multiple and metabolic risk factors. The most widely recognized of the metabolic risk factors are atherogenic dyslipidemia, elevated blood pressure, and elevated plasma glucose. Individuals with these characteristics, commonly manifest a prothrombotic state as well as and a proinflammatory state. Atherogenic dyslipidemia consists of an aggregation of lipoprotein abnormalities including elevated serum triglyceride and apolipoprotein B (apoB, increased small LDL particles, and a reduced level of HDL cholesterol (HDL-C. The metabolic syndrome is often referred to as if it were a discrete entity with a single cause. Available data suggest that it truly is a syndrome, ie, a grouping of atherosclerotic cardiovascular disease (ASCVD risk factors, that probably has more than one cause. Regardless of cause, the syndrome identifies individuals at an elevated risk for ASCVD. The magnitude of the increased risk can vary according to the components of the syndrome present as well as the other, non-metabolic syndrome risk factors in a particular person.

  4. Metabolic syndrome and cardiovascular risk

    Directory of Open Access Journals (Sweden)

    Abdullah M Alshehri

    2010-11-01

    Full Text Available The constellation of dyslipidemia (hypertriglyceridemia and low levels of high-density lipoprotein cholesterol, elevated blood pressure, impaired glucose tolerance, and central obesity is now classified as metabolic syndrome, also called syndrome X. In the past few years, several expert groups have attempted to set forth simple diagnostic criteria for use in clinical practice to identify patients who manifest the multiple components of the metabolic syndrome. These criteria have varied somewhat in specific elements, but in general, they include a combination of multiple and metabolic risk factors. The most widely recognized of the metabolic risk factors are atherogenic dyslipidemia, elevated blood pressure, and elevated plasma glucose. Individuals with these characteristics, commonly manifest a prothrombotic state as well as and a proinflammatory state. Atherogenic dyslipidemia consists of an aggregation of lipoprotein abnormalities including elevated serum triglyceride and apolipoprotein B (apoB, increased small LDL particles, and a reduced level of HDL cholesterol (HDL-C. The metabolic syndrome is often referred to as if it were a discrete entity with a single cause. Available data suggest that it truly is a syndrome, ie, a grouping of atherosclerotic cardiovascular disease (ASCVD risk factors, that probably has more than one cause. Regardless of cause, the syndrome identifies individuals at an elevated risk for ASCVD. The magnitude of the increased risk can vary according to the components of the syndrome present as well as the other, non-metabolic syndrome risk factors in a particular person.

  5. Management of Lowe syndrome: a case report

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    Risky Vitria Prasetyo

    2015-06-01

    Full Text Available Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL is a multisystem disorder characterized by anomalies affecting the eyes, nervous system and kidneys.1-3 The disorder was first recognized by Lowe et al. in 1952, and described as a unique syndrome with organic aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation. In 1954, renal Fanconi syndrome was recognized as being associated with Lowe syndrome and in 1965, a recessive X-linked pattern of inheritance was determined.2,4 Lowe syndrome is a very rare disease, with an estimated prevalence in the general population of 1 in 500,000. According to the Lowe Syndrome Association (LSA in the USA, the estimated prevalence is between 1 and 10 affected males in 1,000,000 people, with 190 living in the year 2000. The Italian Association of Lowe Syndrome estimated that there were 34 Lowe syndrome patients (33 boys and one girl living in Italy in the year 2005.2,4,5 It almost exclusively affects males.6 Physicians may not be familiar with Lowe syndrome due to its rarity.4

  6. Urofacial syndrome: A subset of neurogenic bladder dysfunction syndromes?

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    K N Stamatiou

    2010-01-01

    Full Text Available The urofacial syndrome is probably a subset of neurogenic bladder dysfunction syndromes characterized by detrusor-sphincter discoordination along with a characteristic inversion of facial expression with laughing. This characteristic facial expression can facilitate early detection of this disorder, which leads to poor bladder emptying with high residual urine, hydro-nephrosis with vesico-ureteral reflux and potentially renal failure if left untreated. The etiology of the urofacial syndrome is unknown. In our case, a 12-year-old boy of Middle-Eastern origin presented to the Outpatient Department of our hospital with left pyelonephritis, hydronephrosis and bladder dilatation. Voiding cystourethrography performed 15 days later revealed left vesicoureteral reflux. Cystoscopy revealed bladder trabeculation however an anatomic urethral obstruction was not noticed. Both, neurological examination and radiography of the lumbosacral spine were normal. Urodynamic evaluation revealed the typical findings of detrusor-sphincter discoordination.

  7. Steele Richardson Olszewski syndrome

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    Vijayashree S Gokhale

    2013-01-01

    Full Text Available Parkinson′s disease and its plus syndromes are an important cause of morbidity in the geriatric age group. Its plus syndromes show a myriad of clinical features characterized by progressive symptoms. Here we present a 65-year-old woman with progressive "Parkinsonian-like features," i.e., mask-like face, slowness of all movements and tendency to fall, and difficulty in eye movements, leading to the diagnosis of Steele Richardson Olszewski Syndrome or progressive supranuclear palsy.

  8. Orofacial syndromes: A review

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    N Shyam Sunder

    2011-01-01

    Full Text Available A syndrome is a set of signs and symptoms that tend to occur together and reflect the presence of a particular disease or an increased chance of developing to a particular disease. There are numerous orofacial syndromes and a thorough knowledge of their manifestations and implications is pertinent in good oral health care delivery. The aim of this review is to describe collective esoteric knowledge, about various malformations and syndromes associated with orofacial region.

  9. Metabolic syndrome and menopause

    OpenAIRE

    Jouyandeh, Zahra; Nayebzadeh, Farnaz; Qorbani, Mostafa; Asadi, Mojgan

    2013-01-01

    Abstract Background The metabolic syndrome is defined as an assemblage of risk factors for cardiovascular diseases, and menopause is associated with an increase in metabolic syndrome prevalence. The aim of this study was to assess the prevalence of metabolic syndrome and its components among postmenopausal women in Tehran, Iran. Methods In this cross-sectional study in menopause clinic in Tehran, 118 postmenopausal women were investigated. We used the adult treatment panel 3 (ATP3) criteria t...

  10. Juvenile polyposis syndrome

    Science.gov (United States)

    Hsiao, Yi-Han; Wei, Chin-Hung; Chang, Szu-Wen; Chang, Lung; Fu, Yu-Wei; Lee, Hung-Chang; Liu, Hsuan-Liang; Yeung, Chun-Yan

    2016-01-01

    Abstract Background: Juvenile polyposis syndrome, a rare disorder in children, is characterized with multiple hamartomatous polyps in alimentary tract. A variety of manifestations include bleeding, intussusception, or polyp prolapse. In this study, we present an 8-month-old male infant of juvenile polyposis syndrome initially presenting with chronic anemia. To the best of our knowledge, this is the youngest case reported in the literature. Methods: We report a rare case of an 8-month-old male infant who presented with chronic anemia and gastrointestinal bleeding initially. Panendoscopy and abdominal computed tomography showed multiple polyposis throughout the entire alimentary tract leading to intussusception. Technetium-99m-labeled red blood cell (RBC) bleeding scan revealed the possibility of gastrointestinal tract bleeding in the jejunum. Histopathological examination on biopsy samples showed Peutz-Jeghers syndrome was excluded, whereas the diagnosis of juvenile polyposis syndrome was established. Results: Enteroscopic polypectomy is the mainstay of the treatment. However, polyps recurred and occupied the majority of the gastrointestinal tract in 6 months. Supportive management was given. The patient expired for severe sepsis at the age of 18 months. Conclusion: Juvenile polyposis syndrome is an inherited disease, so it is not possible to prevent it. Concerning of its poor outcome and high mortality rate, it is important that we should increase awareness and education of the parents at its earliest stages. PMID:27631205

  11. Viewing Social Scenes: A Visual Scan-Path Study Comparing Fragile X Syndrome and Williams Syndrome

    Science.gov (United States)

    Williams, Tracey A.; Porter, Melanie A.; Langdon, Robyn

    2013-01-01

    Fragile X syndrome (FXS) and Williams syndrome (WS) are both genetic disorders which present with similar cognitive-behavioral problems, but distinct social phenotypes. Despite these social differences both syndromes display poor social relations which may result from abnormal social processing. This study aimed to manipulate the location of…

  12. Attention in Williams Syndrome and Down's Syndrome: Performance on the New Early Childhood Attention Battery

    Science.gov (United States)

    Breckenridge, Kate; Braddick, Oliver; Anker, Shirley; Woodhouse, Margaret; Atkinson, Janette

    2013-01-01

    Attentional problems are commonly reported as a feature of the behavioural profile in both Williams syndrome (WS) and Down's syndrome (DS). Recent studies have begun to investigate these impairments empirically, acknowledging the need for an approach that considers cross-syndrome comparisons and developmental changes across the different component…

  13. A case of possible Kounis syndrome as a complication of scombroid syndrome

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    Stefano Rusconi

    2017-11-01

    Full Text Available Kounis syndrome is defined as the concurrence of acute coronary syndromes such as coronary spasm or acute myocardial infarction with conditions associated with activation of inflammatory mediators such histamine, arachidonic acid and various cytokines and chemokines. Recently, a variety of unusual etiologies have been reported, including scombroid syndrome. We present a case of a woman without previous history of cardiac diseases or cardiovascular risk factors, who presented to emergency department after the onset of flushing, asthenia, palpitations, burning sensation in the mouth having just eaten tuna. The electrocardiogram revealed a sinus tachycardia with diffuse ST segment depression. After therapy, in a short time symptoms recovered and a second electrocardiogram no longer showed any ST changes. These electrocardiographic changes observed in our case were probably due to transitory coronary vasospasm as described in type I variant of Kounis syndrome.

  14. Meckel Gruber Syndrome: A Case Report

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    Celal Devecioglu

    2004-01-01

    Full Text Available Meckel-Gruber syndrome is an autosomal recessive disordercharacterized by a combination of renal cysts and variably associatedfeatures including developmental anomalies of the central nervous system(typically encephalocele, hepatic ductal dysplasia and cysts, andpolydactyly. n this cases AFP levels are increases. Alternative names areMeckel Syndrome, Dysencephalia Splanchnocystica, Gruber Syndrome andMeckel – Gruber Syndrome. This study is presented to draw attention to theMeckel Gruber Syndrome which seen rarely, have high risk of reccurenceand antenathal determination of AFP levels and early diagnosis byultrasonographic screening can be confident.

  15. Nevoid basal cell carcinoma syndrome

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    Kannan Karthiga

    2006-01-01

    Full Text Available Binkley and Johnson first reported this syndrome in 1951. But it was in 1960, Gorlin-Goltz established the association of basal cell epithelioma, jaw cyst and bifid ribs, a combination which is now frequently known as Gorlin-Goltz syndrome as well as Nevoid Basal Cell Carcinoma Syndrome (NBCCS. NBCCS is inherited as an autosomal dominant trait with high penetrance and variable expressivity. NBCCS is characterized by variety of cutaneous, dental, osseous, opthalmic, neurologic and sexual abnormalities. One such case of Gorlin-Goltz syndrome is reported here with good illustrations.

  16. Six controversial issues on subclinical Cushing's syndrome.

    Science.gov (United States)

    Chiodini, Iacopo; Albani, Adriana; Ambrogio, Alberto Giacinto; Campo, Michela; De Martino, Maria Cristina; Marcelli, Giorgia; Morelli, Valentina; Zampetti, Benedetta; Colao, Annamaria; Pivonello, Rosario

    2017-05-01

    Subclinical Cushing's syndrome is a condition of hypercortisolism in the absence of signs specific of overt cortisol excess, and it is associated with an increased risk of diabetes, hypertension, fragility fractures, cardiovascular events and mortality. The subclinical Cushing's syndrome is not rare, being estimated to be between 0.2-2 % in the adult population. Despite the huge number of studies that have been published in the recent years, several issues remain controversial for the subclinical Cushing's syndrome screening, diagnosis and treatment. The Altogether to Beat Cushing's syndrome Group was founded in 2012 for bringing together the leading Italian experts in the hypercortisolism-related diseases. This document represents the Altogether to Beat Cushing's syndrome viewpoint regarding the following controversial issues on Subclinical Cushing's syndrome (SCS): (1) Who has to be screened for subclinical Cushing's syndrome? (2) How to screen the populations at risk? (3) How to diagnose subclinical Cushing's syndrome in patients with an adrenal incidentaloma? (4) Which consequence of subclinical Cushing's syndrome has to be searched for? (5) How to address the therapy of choice in AI patients with subclinical Cushing's syndrome? (6) How to follow-up adrenal incidentaloma patients with subclinical Cushing's syndrome surgically or conservatively treated? Notwithstanding the fact that most studies that faced these points may have several biases (e.g., retrospective design, small sample size, different criteria for the subclinical Cushing's syndrome diagnosis), we believe that the literature evidence is sufficient to affirm that the subclinical Cushing's syndrome condition is not harmless and that the currently available diagnostic tools are reliable for identifying the majority of individuals with subclinical Cushing's syndrome.

  17. Hemorrhagic fever with renal syndrome and coexisting hantavirus pulmonary syndrome

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    Young Min Hong

    2012-06-01

    Full Text Available Hemorrhagic fever with renal syndrome (HFRS is an acute viral disease with fever, hemorrhage and renal failure caused by hantavirus infection. Hantavirus induces HFRS or hantavirus pulmonary syndrome (HPS. HPS progression to a life-threatening pulmonary disease is found primarily in the USA and very rarely in South Korea. Here, we report a case of HFRS and coexisting HPS.

  18. [Pseudo-Bartter syndrome--2 cases].

    Science.gov (United States)

    Jóźwiak, Lucyna; Jaroszyński, Andrzej; Baranowicz-Gaszczyk, Iwona; Borowicz, Ewa; Ksiazek, Andrzej

    2010-01-01

    Bartter syndrome represents the group of renal disturbances characterized by hypokaliemia and metabolic alkalosis. Some diseases could display hypokalemic metabolic alkalosis without primary tubular dysfunction. These disorders are called pseudo-Bartter syndrome. In this paper we present 2 cases of pseudo-Bartter syndrome related among to other things to overuse of diuretic drugs.

  19. Alport Syndrome Diagnosis

    Science.gov (United States)

    ... 4 months later, my father walked me down the aisle. We danced to a Beatles song & then to j… Connect on Instagram Email: info@alportsyndrome.org Phone: (480) 800-3510 Mailing Address: Alport syndrome Foundation P.O. Box 4130 ... 5, 2017 Cecil Alport: Naming the Syndrome November 26, 2016 The Renal Diet: Potassium ...

  20. Radiology of syndromes and metabolic disorders

    International Nuclear Information System (INIS)

    Taybi, H.; Lachman, R.

    1989-01-01

    The authors describe both the clinical and radiologic manifestations of 700 syndromes. They provide illustrations describing each syndrome and descriptions of those syndromes discovered since publication of a previous edition