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Sample records for syndrome patients reveals

  1. Facial diplegia revealing ventriculoperitoneal shunt failure in a patient with Crouzon syndrome. Case report.

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    Thines, Laurent; Vinchon, Matthieu; Lahlou, Amine; Pellerin, Philippe; Dhellemmes, Patrick

    2007-07-01

    The authors report on the case of a 15-year-old boy with Crouzon syndrome (CS) who presented with headache and facial diplegia. He had undergone several craniofacial interventions and a posterior fossa decompression for tonsillar herniation caused by the CS. A ventriculoperitoneal (VP) shunt had been inserted for hydrocephalus. Emergency computed tomography (CT) disclosed slight dilation of the ventricular cavities compared with their appearance on a baseline CT scan. Magnetic resonance imaging showed a deformed brainstem but no compression at the occipital foramen; there was no apparent explanation for the facial diplegia. The neuroophthalmological examination revealed neither papilledema nor oculomotor palsy. Electromyography confirmed incomplete peripheral facial diplegia. The patient underwent emergency shunt revision, during which complete obstruction of the ventricular catheter and severe cerebrospinal fluid hypertension were found. After surgery, cranial hypertension symptoms completely resolved and the facial diplegia improved slowly with a persistent and incomplete right superior facial palsy. Cranial 3D CT scanning reconstructions and brain magnetic resonance imaging demonstrated severe petrous bone distortion that could have been responsible for direct stretching injuries on the facial nerves at the level of the internal acoustic meatus. The present case represents the first reported occurrence of VP shunt failure as revealed by a facial palsy; the authors discuss the pathophysiology of facial palsy in intracranial hypertension.

  2. Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease.

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    Lieber, Daniel S; Vafai, Scott B; Horton, Laura C; Slate, Nancy G; Liu, Shangtao; Borowsky, Mark L; Calvo, Sarah E; Schmahmann, Jeremy D; Mootha, Vamsi K

    2012-01-06

    Mitochondrial diseases comprise a diverse set of clinical disorders that affect multiple organ systems with varying severity and age of onset. Due to their clinical and genetic heterogeneity, these diseases are difficult to diagnose. We have developed a targeted exome sequencing approach to improve our ability to properly diagnose mitochondrial diseases and apply it here to an individual patient. Our method targets mitochondrial DNA (mtDNA) and the exons of 1,600 nuclear genes involved in mitochondrial biology or Mendelian disorders with multi-system phenotypes, thereby allowing for simultaneous evaluation of multiple disease loci. Targeted exome sequencing was performed on a patient initially suspected to have a mitochondrial disorder. The patient presented with diabetes mellitus, diffuse brain atrophy, autonomic neuropathy, optic nerve atrophy, and a severe amnestic syndrome. Further work-up revealed multiple heteroplasmic mtDNA deletions as well as profound thiamine deficiency without a clear nutritional cause. Targeted exome sequencing revealed a homozygous c.1672C > T (p.R558C) missense mutation in exon 8 of WFS1 that has previously been reported in a patient with Wolfram syndrome. This case demonstrates how clinical application of next-generation sequencing technology can enhance the diagnosis of patients suspected to have rare genetic disorders. Furthermore, the finding of unexplained thiamine deficiency in a patient with Wolfram syndrome suggests a potential link between WFS1 biology and thiamine metabolism that has implications for the clinical management of Wolfram syndrome patients.

  3. Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease

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    Lieber Daniel S

    2012-01-01

    Full Text Available Abstract Background Mitochondrial diseases comprise a diverse set of clinical disorders that affect multiple organ systems with varying severity and age of onset. Due to their clinical and genetic heterogeneity, these diseases are difficult to diagnose. We have developed a targeted exome sequencing approach to improve our ability to properly diagnose mitochondrial diseases and apply it here to an individual patient. Our method targets mitochondrial DNA (mtDNA and the exons of 1,600 nuclear genes involved in mitochondrial biology or Mendelian disorders with multi-system phenotypes, thereby allowing for simultaneous evaluation of multiple disease loci. Case Presentation Targeted exome sequencing was performed on a patient initially suspected to have a mitochondrial disorder. The patient presented with diabetes mellitus, diffuse brain atrophy, autonomic neuropathy, optic nerve atrophy, and a severe amnestic syndrome. Further work-up revealed multiple heteroplasmic mtDNA deletions as well as profound thiamine deficiency without a clear nutritional cause. Targeted exome sequencing revealed a homozygous c.1672C > T (p.R558C missense mutation in exon 8 of WFS1 that has previously been reported in a patient with Wolfram syndrome. Conclusion This case demonstrates how clinical application of next-generation sequencing technology can enhance the diagnosis of patients suspected to have rare genetic disorders. Furthermore, the finding of unexplained thiamine deficiency in a patient with Wolfram syndrome suggests a potential link between WFS1 biology and thiamine metabolism that has implications for the clinical management of Wolfram syndrome patients.

  4. Papillon-Lefevre syndrome patient reveals species-dependent requirements for neutrophil defenses

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    Sorensen, O. E.; Clemmensen, S. N.; Dahl, S. L.

    2014-01-01

    Papillon-Lefevre syndrome (PLS) results from mutations that inactivate cysteine protease cathepsin C (CTSC), which processes a variety of serine proteases considered essential for antimicrobial defense. Despite serine protease-deficient immune cell populations, PLS patients do not exhibit marked ...

  5. Skin manifestations of POEMS and AESOP syndrome in the same patient revealing plasma cell dyscrasia.

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    Rongioletti, Franco; Failla, Maria C; Atzori, Laura; Ferreli, Caterina

    2016-12-01

    POEMS (polyneuropathy, organomegaly, endocrinopathy, monoclonal protein and skin signs) and AESOP (adenopathy and extensive skin patch overlying a plasmacytoma) syndromes are rare paraneoplastic conditions due to an underlying plasma cell dyscrasia. We report a 70-year-old patient with the rare coexistence of POEMS and AESOP syndromes and in whom skin signs, that differ both clinically and histologically, were the clues to the diagnosis of a plasma cell disorder. Vascular endothelial growth factor-A overexpression seems to be the common pathogenetic link of the different clinicopathological presentations of the skin lesions. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  6. Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.

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    Teber, Ozge Altug; Gillessen-Kaesbach, Gabriele; Fischer, Sven; Böhringer, Stefan; Albrecht, Beate; Albert, Angelika; Arslan-Kirchner, Mine; Haan, Eric; Hagedorn-Greiwe, Monika; Hammans, Christof; Henn, Wolfram; Hinkel, Georg Klaus; König, Rainer; Kunstmann, Erdmute; Kunze, Jürgen; Neumann, Luitgard M; Prott, Eva-Christina; Rauch, Anita; Rott, Hans-Dieter; Seidel, Heide; Spranger, Stephanie; Sprengel, Martin; Zoll, Barbara; Lohmann, Dietmar R; Wieczorek, Dagmar

    2004-11-01

    To define the range of phenotypic expression in Treacher Collins syndrome (TCS; Franceschetti-Klein syndrome), we performed mutation analysis in the TCOF1 gene in 46 patients with tentative diagnosis of TCS and evaluated the clinical data, including a scoring system. A total of 27 coding exons of TCOF1 and adjacent splice junctions were analysed by direct sequencing. In 36 patients with a clinically unequivocal diagnosis of TCS, we detected 28 pathogenic mutations, including 25 novel alterations. No mutation was identified in the remaining eight patients with unequivocal diagnosis of TCS and 10 further patients, in whom the referring diagnosis of TCS was clinically doubtful. There is no overt genotype-phenotype correlation except that conductive deafness is significantly less frequent in patients with mutations in the 3' part of the open reading frame. Inter- and intrafamilial variation is wide. Some mutation carriers, parents of typically affected patients, are so mildly affected that the diagnosis might be overlooked clinically. This suggests that modifying factors are important for phenotypic expression. Based on these findings, minimal diagnostic criteria were defined: downward slanting palpebral fissures and hypoplasia of the zygomatic arch. The difficulties in genetic counselling, especially diagnosis of family members with a mild phenotype, are described.

  7. Central nervous system PET-CT imaging reveals regional impairments in pediatric patients with Wolfram syndrome.

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    Agnieszka Zmyslowska

    Full Text Available Wolfram syndrome (WFS is inherited as an autosomal recessive disease with main clinical features of diabetes mellitus, optic atrophy, diabetes insipidus and deafness. However, various neurological defects may also be detected. The aim of this study was to evaluate aspects of brain structure and function using PET-CT (positron emission tomography and computed tomography and MRI (magnetic resonance imaging in pediatric patients with WFS. Regional changes in brain glucose metabolism were measured using standardized uptake values (SUVs based on images of (18F fluorodeoxyglucose (FDG uptake in 7 WFS patients aged 10.1-16.0 years (mean 12.9±2.4 and in 20 healthy children aged 3-17.9 years (mean 12.8±4.1. In all patients the diagnosis of WFS was confirmed by DNA sequencing of the WFS1 gene. Hierarchical clustering showed remarkable similarities of glucose uptake patterns among WFS patients and their differences from the control group. SUV data were subsequently standardized for age groups 13 years old to account for developmental differences. Reduced SUVs in WFS patients as compared to the control group for the bilateral brain regions such as occipital lobe (-1.24±1.20 vs. -0.13±1.05; p = 0.028 and cerebellum (-1.11±0.69 vs. -0.204±1.00; p = 0.036 were observed and the same tendency for cingulate (-1.13±1.05 vs. -0.15±1.12; p = 0.056, temporal lobe (-1.10±0.98 vs. -0.15±1.10; p = 0.057, parietal lobe (-1.06±1.20 vs. -0.08±1.08; p = 0.058, central region (-1.01±1.04 vs. -0.09±1.06; p = 0.060, basal ganglia (-1.05±0.74 vs. -0.20±1.07; p = 0.066 and mesial temporal lobe (-1.06±0.82 vs. -0.26±1.08; p = 0.087 was also noticed. After adjusting for multiple hypothesis testing, the differences in glucose uptake were non-significant. For the first time, regional differences in brain glucose metabolism among patients with WFS were shown using PET-CT imaging.

  8. MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions

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    Kirchhoff, Maria; Bisgaard, Anne-Marie; Bryndorf, Thue

    2007-01-01

    -Beuren, Prader-Willi, Angelman, Miller-Dieker, Smith-Magenis, and 22q11-deletion syndromes). Patients were initially referred for HR-CGH analysis and MRS-MLPA was performed retrospectively. MRS-MLPA analysis revealed imbalances in 15/258 patients (5.8%). Ten deletions were identified, including deletions of 1p36......MLPA analysis for a panel of syndromes with mental retardation (MRS-MLPA) was used for investigation of 258 mentally retarded and dysmorphic patients with normal conventional karyotypes (P064 probe set, MRC-Holland, for detection of (micro)deletions associated with 1p36-deletion, Sotos, Williams......, 5q35 (Sotos syndrome), 7q11 (Williams-Beuren syndrome), 17p11 (Smith-Magenis syndrome), 15q11 (Angelman syndrome) and 22q11. Duplications were detected in 5q35, 7q11, 17p13, 17p11 and 22q11. We reviewed another 170 patients referred specifically for MRS-MLPA analysis. Eighty of these patients were...

  9. Whole Exome Sequencing for a Patient with Rubinstein-Taybi Syndrome Reveals de Novo Variants besides an Overt CREBBP Mutation

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    Hee Jeong Yoo

    2015-03-01

    Full Text Available Rubinstein-Taybi syndrome (RSTS is a rare condition with a prevalence of 1 in 125,000–720,000 births and characterized by clinical features that include facial, dental, and limb dysmorphology and growth retardation. Most cases of RSTS occur sporadically and are caused by de novo mutations. Cytogenetic or molecular abnormalities are detected in only 55% of RSTS cases. Previous genetic studies have yielded inconsistent results due to the variety of methods used for genetic analysis. The purpose of this study was to use whole exome sequencing (WES to evaluate the genetic causes of RSTS in a young girl presenting with an Autism phenotype. We used the Autism diagnostic observation schedule (ADOS and Autism diagnostic interview revised (ADI-R to confirm her diagnosis of Autism. In addition, various questionnaires were used to evaluate other psychiatric features. We used WES to analyze the DNA sequences of the patient and her parents and to search for de novo variants. The patient showed all the typical features of Autism, WES revealed a de novo frameshift mutation in CREBBP and de novo sequence variants in TNC and IGFALS genes. Mutations in the CREBBP gene have been extensively reported in RSTS patients, while potential missense mutations in TNC and IGFALS genes have not previously been associated with RSTS. The TNC and IGFALS genes are involved in central nervous system development and growth. It is possible for patients with RSTS to have additional de novo variants that could account for previously unexplained phenotypes.

  10. Pressure pain sensitivity topographical maps reveal bilateral hyperalgesia of the hands in patients with unilateral carpal tunnel syndrome.

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    Fernández-de-Las-Peñas, César; Madeleine, Pascal; Martínez-Perez, Almudena; Arendt-Nielsen, Lars; Jiménez-García, Rodrigo; Pareja, Juan A

    2010-08-01

    To assess topographical pressure pain sensitivity maps of the hand in patients with unilateral carpal tunnel syndrome (CTS) as compared with healthy subjects. A total of 20 women with CTS (ages 32-52 years) and 20 healthy matched women (ages 32-51 years) were recruited. Pressure pain thresholds (PPTs) were measured bilaterally over 30 locations of the palm of each hand by an assessor blinded to the subjects' conditions. Patients showed lower PPTs in both hands in all of the measurement points as compared with controls (P < 0.001 for all). PPTs were lower in those points over the proximal phalanx of the fingers and the thenar eminency as compared with those points located over the distal phalanx of the fingers (P < 0.001). CTS patients showed lower PPT levels in dermatomes C6, C7, and C8 when compared with healthy controls (P < 0.001 for all), but without differences between dermatomes (P = 0.4). PPT was negatively correlated with both hand pain intensity and duration of symptoms (P < 0.001 for all). Our findings revealed bilateral generalized pressure pain hyperalgesia in unilateral CTS because lower PPT levels were found in all of the points. The pressure pain hyperalgesia was not uniformly distributed since PPTs were lower in points over the proximal phalanx of the fingers and the thenar eminency as compared with those points located over the distal phalanx of the fingers. The decrease in PPT levels was associated with the intensity and the duration of the pain symptoms, supporting a role of both peripheral and central sensitization mechanisms in this pain condition.

  11. Gene expression profiling reveals the defining features of monocytes from septic patients with compensatory anti-inflammatory response syndrome.

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    Xu, Ping-bo; Lou, Jing-Sheng; Ren, Yu; Miao, Chang-Hong; Deng, Xiao-ming

    2012-11-01

    To characterize the expression profiles of genes in purified monocytes from septic patients during systemic inflammatory response syndrome (SIRS) and compensatory anti-inflammatory response syndrome (CARS), and then to investigate the potential mechanism of monocyte deactivation. Lipopolysaccharides (LPS)-induced cytokine responses, phagocytosis assay and migration assay were performed in monocytes from SIRS patients, CARS patients and healthy volunteers (n = 8). After functional assays, each pair of samples from the same group was pooled into one for gene expression analysis. All new samples (n = 4) were hybridized on NimbleGen human gene expression 12 × 135 K microarrays, and selected genes were validated by real-time polymerase chain reaction. Pathway analysis and Gene Ontology analysis were performed on differentially expressed genes using Agilent GeneSpring (version 11.0). A set of genes related to pro-inflammation, phagocytosis, chemotaxis, antigen presentation, and anti-apoptosis were significantly down-regulated, while some genes associated with pro-apoptosis and anti-inflammation were up-regulated instead on monocytes from CARS patients compared with SIRS patients and healthy volunteers. Monocytes from CARS patients showed impaired production of TNF-α and IL-6, and increased release of IL-10 when stimulated by LPS. Functional analysis confirmed reduced phagocytosis and migratory activity of monocytes from CARS patients. Human leukocyte antigen-DR (HLA-DR) measurements demonstrated decreased expression of HLA-DR on monocytes from CARS patients. Monocytes from CARS patients exhibited significant changes in mRNA expression of genes associated with phagocytosis, antigen presentation, inflammatory response, cell migration, and apoptosis, which might cause deactivation of monocytes during CARS. Copyright © 2012 The British Infection Association. Published by Elsevier Ltd. All rights reserved.

  12. Baseline brain activity changes in patients with clinically isolated syndrome revealed by resting-state functional MRI

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    Liu, Yaou; Duan, Yunyun; Liang, Peipeng; Jia, Xiuqin; Yu, Chunshui [Dept. of Radiology, Xuanwu Hospital, Capital Medical Univ., Beijing (China); Ye, Jing [Dept. of Neurology, Xuanwu Hospital, Capital Medical Univ., Beijing (China); Butzkueven, Helmut [Dept. of Medicine, Univ. of Melbourne, Melbourne (Australia); Dong, Huiqing [Dept. of Neurology, Xuanwu Hospital, Capital Medical Univ., Beijing (China); Li, Kuncheng [Dept. of Radiology, Xuanwu Hospital, Capital Medical Univ., Beijing (China); Beijing Key Laboratory of MRI and Brain Informatics, Beijing (China)], E-mail: likuncheng1955@yahoo.com.cn

    2012-11-15

    Background A clinically isolated syndrome (CIS) is the first manifestation of multiple sclerosis (MS). Previous task-related functional MRI studies demonstrate functional reorganization in patients with CIS. Purpose To assess baseline brain activity changes in patients with CIS by using the technique of regional amplitude of low frequency fluctuation (ALFF) as an index in resting-state fMRI. Material and Methods Resting-state fMRIs data acquired from 37 patients with CIS and 37 age- and sex-matched normal controls were compared to investigate ALFF differences. The relationships between ALFF in regions with significant group differences and the EDSS (Expanded Disability Status Scale), disease duration, and T2 lesion volume (T2LV) were further explored. Results Patients with CIS had significantly decreased ALFF in the right anterior cingulate cortex, right caudate, right lingual gyrus, and right cuneus (P < 0.05 corrected for multiple comparisons using Monte Carlo simulation) compared to normal controls, while no significantly increased ALFF were observed in CIS. No significant correlation was found between the EDSS, disease duration, T2LV, and ALFF in regions with significant group differences. Conclusion In patients with CIS, resting-state fMRI demonstrates decreased activity in several brain regions. These results are in contrast to patients with established MS, in whom ALFF demonstrates several regions of increased activity. It is possible that this shift from decreased activity in CIS to increased activity in MS could reflect the dynamics of cortical reorganization.

  13. Three-dimensional gait analysis reveals dynamic alignment change in a patient with dropped head syndrome: A case report.

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    Miura, Kousei; Kadone, Hideki; Koda, Masao; Kumagai, Hiroshi; Nagashima, Katsuya; Fujii, Kengo; Noguchi, Hiroshi; Funayama, Toru; Abe, Tetsuya; Furuya, Takeo; Yamazaki, Masashi

    2018-02-01

    Dropped head syndrome (DHS) is a cervical kyphotic deformity caused by apparent weakness of the neck extensor muscles. We often encounter patients whose symptoms, including impaired forward vision and neck pain, deteriorate while walking. This is the first report of a case of dynamic spinal alignment change in a patient with DHS during walking using three-dimensional gait analysis. A 78-year-old Japanese woman complained of impaired forward vision and neck pain while walking. Her radiograph showed severe cervical kyphosis. C2-C7 SVA was +74 mm and C7-S1 SVA was -18.4 mm. The patient attempted to compensate to improve forward vision through lumbar hyperlordosis. We analyzed the gait motion of the patient by using three-dimensional (3D) motion and wireless surface electromyographic analysis systems to measure two systems synchronously. The patient walked continuously for as long as possible. We calculated dynamic SVA from the 3D motion analysis. Her head drop deformity gradually progressed and interfered with her forward vision while walking. Cervical SVA gradually increased from 75 to 85 mm. Thoracic SVA, Lumbar SVA and Whole spine SVA were initially decreased because of compensatory lumbar hyperlordosis, but ultimately increased, suggesting decompensation by the time she had finished walking. EMG activity of the bilateral trapezius muscles gradually reduced, which reflected the disturbance of maintaining her posture. Previous static evaluation could not prove the dynamic change of spinal alignment and EMG activity during walking. By introducing 3D gait analysis, we could evaluate dynamic spinal alignment of a patient with DHS. Copyright © 2017 Elsevier Ltd. All rights reserved.

  14. Glycopeptide profiling of beta-2-glycoprotein I by mass spectrometry reveals attenuated sialylation in patients with antiphospholipid syndrome

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    Kondo, Akira; Miyamoto, Toshiaki; Yonekawa, Osamu

    2009-01-01

    beta2-glycoprotein I (beta2GPI) is a five-domain protein associated with the antiphospholipid syndrome (APS), however, its normal biological function is yet to be defined. beta2GPI is N-glycosylated at several asparagine residues and the glycan moiety conjugated to residue 143 has been proposed...... and the pathology of antiphospholipid syndrome....

  15. de Toni-Fanconi-Debré syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency

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    Ogier, H.; Lombes, A.; Scholte, H. R.; Poll-The, B. T.; Fardeau, M.; Alcardi, J.; Vignes, B.; Niaudet, P.; Saudubray, J. M.

    1988-01-01

    We describe a patient with severe muscle cytochrome c oxidase deficiency who had de Toni-Fanconi-Debré syndrome and acute neurologic deterioration resembling Leigh syndrome, without clear evidence of muscle abnormality. Metabolic investigations revealed elevated cerebrospinal fluid lactate values

  16. Cachexia Syndrome, anorexia patient

    International Nuclear Information System (INIS)

    Roldán, G.; Musé, I.

    2004-01-01

    Introduction: Two thirds of patients (ptes) cancer present slimming recognized a negative prognostic factor. Anorexia cachexia syndrome (SCA) results from the interaction of multiple factors and causes death of 22% of these patients. Nutritional support produces a moderate recovery weight without affecting the underlying metabolic disorders. Objectives: Conduct a review of current knowledge of the underlying pathophysiology and management the cachexia-anorexia syndrome in cancer patients. Designing indications possible policy interventions in the management of these patients. Method: Performed an a literature review on SCA. Conclusions: We identify patients at risk for early implementation of non-pharmacological measures preventive. The control side effects to treatment oncospecific with particular attention to the need for antiemetics, laxatives / antidiarrheal control dental and proper pain management is fundamental. Keep track enteral is a priority. In those with swallowing disorders or dysphagia, nasogastric feeding tube should be considered early. Indications for gastrostomy / jejunostomy and total parenteral nutrition (TPN) are very limited. The NPT is a complementary treatment maneuver a temporary and reversible complication, in order to prevent deterioration

  17. Puffy Hand Syndrome Revealed by a Severe Staphylococcal Skin Infection

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    Reyhan Amode

    2013-01-01

    Full Text Available Puffy hand syndrome develops after long-term intravenous drug addiction. It is characterized by a nonpitting edema, affecting the dorsal side of fingers and hands with puffy aspect. Frequency and severity of the complications of this syndrome are rarely reported. Local infectious complications such as cellulitis can be severe and can enable the diagnosis. Herein, we report the case of a 41-year-old man who went to the emergency department for abdominal pain, fever, and bullous lesions of legs and arms with edema. Bacteriologic examination of a closed bullous lesion evidenced a methicillin sensitive Staphylococcus aureus. The abdomen computed tomography excluded deep infections and peritoneal effusion. The patient was successfully treated by intravenous oxacillin and clindamycin. He had a previous history of intravenous heroin addiction. We retained the diagnosis of puffy hand syndrome revealed by a severe staphylococcal infection with toxic involvement mimicking a four limbs cellulitis. Puffy hand syndrome, apart from the chronic lymphedema treatment, has no specific medication available. Prophylactic measures against skin infections are essential.

  18. BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1

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    Estivill Xavier

    2009-12-01

    Full Text Available Abstract Background Microdeletion of the chromosome 22q11.2 region is the most common genetic aberration among patients with velocardiofacial syndrome (VCFS but a subset of subjects do not show alterations of this chromosome region. Methods We analyzed 18 patients with VCFS-like features by comparative genomic hybridisation (aCGH array and performed a face-to-face slide hybridization with two different arrays: a whole genome and a chromosome 22-specific BAC array. Putative rearrangements were confirmed by FISH and MLPA assays. Results One patient carried a combination of rearrangements on 1q21.1, consisting in a microduplication of 212 kb and a close microdeletion of 1.15 Mb, previously reported in patients with variable phenotypes, including mental retardation, congenital heart defects (CHD and schizophrenia. While 326 control samples were negative for both 1q21.1 rearrangements, one of 73 patients carried the same 212-kb microduplication, reciprocal to TAR microdeletion syndrome. Also, we detected four copy number variants (CNVs inherited from one parent (a 744-kb duplication on 10q11.22; a 160 kb duplication and deletion on 22q11.21 in two cases; and a gain of 140 kb on 22q13.2, not present in control subjects, raising the potential role of these CNVs in the VCFS-like phenotype. Conclusions Our results confirmed aCGH as a successful strategy in order to characterize additional submicroscopic aberrations in patients with VCF-like features that fail to show alterations in 22q11.2 region. We report a 212-kb microduplication on 1q21.1, detected in two patients, which may contribute to CHD.

  19. Long-term follow-up in primary Sjögren's syndrome reveals differences in clinical presentation between female and male patients

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    Ramírez Sepúlveda, Jorge I; Kvarnström, Marika; Eriksson, Per

    2017-01-01

    BACKGROUND: Despite men being less prone to develop autoimmune diseases, male sex has been associated with a more severe disease course in several systemic autoimmune diseases. In the present study, we aimed to investigate differences in the clinical presentation of primary Sjögren's syndrome (p...... (ns). Clinical data including serological and hematological parameters and glandular and extraglandular manifestations were compared between men and women. RESULTS: Male patient serology was characterized by more frequent positivity for anti-Ro/SSA and anti-La/SSB (p = 0.02), and ANA (p = 0...

  20. Sweet syndrome revealing systemic lupus erythematosus.

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    Quinn, N

    2015-02-01

    Sweet Syndrome is an acute inflammatory skin eruption which is rare in children. We report a case of childhood Systemic Lupus Erythematosus (SLE) that presented with Sweet syndrome. This case is a unique presentation of a common disorder which provides a new facet for the differential diagnosis of SLE in children. It is also the first paediatric case to be reported in a Caucasian child.

  1. Paraneoplastic syndromes revealing ovarian teratoma in young and ...

    African Journals Online (AJOL)

    Paraneoplastic syndromes revealing ovarian teratoma in young and menopausal women: report of two cases. Majdouline Boujoual, Ihsan Hakimi, Farid Kassidi, Youssef Akhoudad, Nawal Sahel, Adil Rkiouak, Mohamed Allaoui, Hafsa Chahdi, Mohamed Oukabli, Jaouad Kouach, Driss Rahali Moussaoui, Mohamed ...

  2. An in silico approach reveals associations between genetic and epigenetic factors within regulatory elements in B cells from primary Sjögren’s syndrome patients

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    Orsia D. Konsta

    2015-08-01

    Full Text Available Recent advances in genetics have highlighted several regions and candidate genes associated with primary Sjögren's syndrome (SS, a systemic autoimmune epithelitis that combines exocrine gland dysfunctions, and focal lymphocytic infiltrations. In addition to genetic factors, it is now clear that epigenetic deregulations are present during SS and restricted to specific cell type subsets such as lymphocytes and salivary gland epithelial cells. In this study, 72 single nucleotide polymorphisms (SNPs associated with 43 SS gene risk factors were selected from publicly available and peer reviewed literature for further in silico analysis. SS risk variant location was tested revealing a broad distribution in coding sequences (5.6%, intronic sequences (55.6%, upstream/downstream genic regions (30.5%, and intergenic regions (8.3%. Moreover, a significant enrichment of regulatory motifs (promoter, enhancer, insulator, DNAse peak and eQTL characterizes SS risk variants (94.4%. Next, screening SNPs in high linkage disequilibrium (r2 ≥ 0.8 in Caucasians revealed 645 new variants including 5 SNPs with missense mutations, and indicated an enrichment of transcriptionally active motifs according to the cell type (B cells > monocytes > T cells >> A549. Finally, we looked at SS risk variants for histone markers in B cells (GM12878, monocytes (CD14+ and epithelial cells (A548. Active histone markers were associated with SS risk variants at both promoters and enhancers in B cells, and within enhancers in monocytes. In conclusion and based on the obtained in silico results, that need further confirmation, associations were observed between SS genetic risk factors and epigenetic factors and these associations predominate in B cells such as those observed at the FAM167A-BLK locus.

  3. High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes.

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    Splendore, A; Silva, E O; Alonso, L G; Richieri-Costa, A; Alonso, N; Rosa, A; Carakushanky, G; Cavalcanti, D P; Brunoni, D; Passos-Bueno, M R

    2000-10-01

    Twenty-eight families with a clinical diagnosis of Treacher Collins syndrome were screened for mutations in the 25 coding exons of TCOF1 and their adjacent splice junctions through SSCP and direct sequencing. Pathogenic mutations were detected in 26 patients, yielding the highest detection rate reported so far for this disease (93%) and bringing the number of known disease-causing mutations from 35 to 51. This is the first report to describe clustering of pathogenic mutations. Thirteen novel polymorphic alterations were characterized, confirming previous reports that TCOF1 has an unusually high rate of single-nucleotide polymorphisms (SNPs) within its coding region. We suggest a possible different mechanism leading to TCS or genetic heterogeneity for this condition, as we identified two families with no apparent pathogenic mutation in the gene. Furthermore, our data confirm the absence of genotype-phenotype correlation and reinforce that the apparent anticipation often observed in TCS families is due to ascertainment bias. Copyright 2000 Wiley-Liss, Inc.

  4. Gorlin Syndrome in Eleven Patients

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    Gülen Eda Utine

    2017-06-01

    Full Text Available Aim: Gorlin syndrome is an autosomal dominant disorder characterized by cutaneous basal cell carcinomas, odontogenic keratocysts and skeletal anomalies. Predisposition to certain types of cancers is among the main features of the disease. Chromosome instability was suspected as a mechanism for cancer predisposition. However, previous studies failed to prove the presence of chromosome instability. Materials and Methods: We present 11 patients with Gorlin syndrome. Results: Six of the patients were checked for increased sister chromatid exchange and were found normal. Two other patients had concurrent chromosome anomalies. Conclusion: Evidence for chromosome instability was not found in our patients. Occurrence of chromosome instability in a subgroup of patients and mechanisms underlying cancer predisposition requires further studies for full elucidation. Hairy patches and pigmentary skin lesions are among the recently defined common features of the syndrome.

  5. Hearing impairment in genotyped Wolfram syndrome patients.

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    Plantinga, R.F.; Pennings, R.J.E.; Huygen, P.L.M.; Bruno, R.; Eller, P.; Barrett, T.G.; Vialettes, B.; Paquis-Fluklinger, V.; Lombardo, F.; Cremers, C.W.R.J.

    2008-01-01

    OBJECTIVES: Wolfram syndrome is a progressive neurodegenerative syndrome characterized by the features "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). We sought to study the audiometric data of genotyped Wolfram syndrome patients with sensorineural hearing impairment.

  6. Functional analysis in mouse embryonic stem cells reveals wild-type activity for three MSH6 variants found in suspected Lynch syndrome patients.

    Directory of Open Access Journals (Sweden)

    Eva A L Wielders

    Full Text Available Lynch syndrome confers an increased risk to various types of cancer, in particular early onset colorectal and endometrial cancer. Mutations in mismatch repair (MMR genes underlie Lynch syndrome, with the majority of mutations found in MLH1 and MSH2. Mutations in MSH6 have also been found but these do not always cause a clear cancer predisposition phenotype and MSH6-defective tumors often do not show the standard characteristics of MMR deficiency, such as microsatellite instability. In particular, the consequences of MSH6 missense mutations are challenging to predict, which further complicates genetic counseling. We have previously developed a method for functional characterization of MSH2 missense mutations of unknown significance. This method is based on endogenous gene modification in mouse embryonic stem cells using oligonucleotide-directed gene targeting, followed by a series of functional assays addressing the MMR functions. Here we have adapted this method for the characterization of MSH6 missense mutations. We recreated three MSH6 variants found in suspected Lynch syndrome families, MSH6-P1087R, MSH6-R1095H and MSH6-L1354Q, and found all three to behave like wild type MSH6. Thus, despite suspicion for pathogenicity from clinical observations, our approach indicates these variants are not disease causing. This has important implications for counseling of mutation carriers.

  7. Male patients with partial androgen insensitivity syndrome

    DEFF Research Database (Denmark)

    Hellmann, Philip; Christiansen, Peter; Johannsen, Trine Holm

    2012-01-01

    To describe the natural history of phenotype, growth and gonadal function in patients with partial androgen insensitivity syndrome.......To describe the natural history of phenotype, growth and gonadal function in patients with partial androgen insensitivity syndrome....

  8. [A cervical necrotizing cellulitis revealing a Lemierre syndrome].

    Science.gov (United States)

    Assouan, C; Salami, A; Anzouan-Kacou, E; Nguessan, N; Konan, E

    2016-06-01

    Lemierre syndrome is characterized by a septic thrombophlebitis of the internal jugular vein (IJV) following an oropharyngeal infection. We report a case of Lemierre syndrome that occurred in a context of angina and necrotizing cellulitis of the neck in a 45-year-old patient. The Doppler ultrasound exam of the neck vessels and a neck CT showed an IJV thrombophlebitis. No germ could be isolated in the samples (blood culture, pus). The treatment associated antibiotics, heparin and surgical debridement of the necrotic tissues with extraction of the thrombus after ligation and section of the IJV. The postoperative course was uneventful. Lemierre syndrome is a rare but serious disease. Its low incidence makes him a forgotten disease. It should be systematically suspected in any oropharyngeal infection with the presence of a large painful swelling of the neck. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  9. HELLP syndrome in a pregnant patient with Gitelman syndrome

    Directory of Open Access Journals (Sweden)

    Minhyeok Lee

    2017-03-01

    Full Text Available Gitelman syndrome is characterized by hypokalemia, metabolic alkalosis, hypocalciuria, and hypomagnesemia. The clinical course of Gitelman syndrome in pregnant women remains unclear, but it is thought to be benign. We report here the first Korean case of atypical eclampsia in a 31-year-old who was diagnosed with Gitelman syndrome incidentally during an antenatal screening test. The patient did well during pregnancy despite significant hypokalemia. At 33 weeks’ gestation, the patient exhibited eclampsia, hemolysis, elevated liver enzymes, low platelets (HELLP syndrome, and renal insufficiency without significant hypertension or proteinuria. We explain this unusual clinical course through a review of the relevant literature.

  10. Fibromyalgia syndrome in chronic urticaria patients

    Directory of Open Access Journals (Sweden)

    Aylin Gözübüyükoğulları

    2014-12-01

    Full Text Available Background and Design: The aim of our study was to determine the frequency of fibromyalgia syndrome in chronic urticaria patients. Materials and Methods: The study was carried out with the participation of 100 chronic urticaria patients and 61 control group patients. Chronic urticaria patients were investigated for the etiology of urticaria and the autologous serum skin test was performed in those patients. Both the chronic urticaria patients and the controls were evaluated for fibromyalgia syndrome, and the patients fulfilling the diagnostic criteria were diagnosed to have fibromyalgia syndrome. Results: The frequency of fibromyalgia syndrome was significantly higher in chronic urticaria patients (23%, than in the control group (1.6%. All the patients, who were diagnosed with fibromyalgia syndrome, were female and the rate of female gender was significantly higher than in the group without fibromyalgia syndrome. Thyroid autoimmunity was positive in 26% of chronic urticaria patients. No significant difference was detected in the frequency of thyroid autoimmunity and autologous serum skin test positivity between the patients with and without fibromyalgia syndrome. Conclusion: The prevalence of fibromyalgia syndrome in chronic urticaria patients is higher than in the general population. Therefore, we suggest evaluation of chronic urticaria patients in terms of fibromyalgia syndrome which is a disease that decreases the quality of life considerably. Furthermore, in order to treat these two diseases effectively, future studies are necessary to determine the common points in the pathogenesis.

  11. Molecular analysis of myelodysplastic syndrome with isolated deletion of the long arm of chromosome 5 reveals a specific spectrum of molecular mutations with prognostic impact: a study on 123 patients and 27 genes

    Science.gov (United States)

    Meggendorfer, Manja; Haferlach, Claudia; Kern, Wolfgang; Haferlach, Torsten

    2017-01-01

    The only cytogenetic aberration defining a myelodysplastic syndrome subtype is the deletion of the long arm of chromosome 5, which, along with morphological features, leads to the diagnosis of myelodysplastic syndrome with isolated deletion of the long arm of chromosome 5. These patients show a good prognosis and respond to treatment such as lenalidomide, but some cases progress to acute myeloid leukemia; however, the molecular mutation pattern is rarely characterized. Therefore, we investigated a large cohort of 123 myelodysplastic syndrome patients with isolated deletion of the long arm of chromosome 5, diagnosed following the World Health Organization classifications 2008 and 2016, by sequencing 27 genes. A great proportion of patients showed no or only one mutation. Only seven genes showed mutation frequencies >5% (SF3B1, DNMT3A, TP53, TET2, CSNK1A1, ASXL1, JAK2). However, the pattern of recurrently mutated genes was comparable to other myelodysplastic syndrome subtypes by comparison to a reference cohort, except that of TP53 which was significantly more often mutated in myelodysplastic syndrome with isolated deletion of the long arm of chromosome 5. As expected, SF3B1 was frequently mutated and correlated with ring sider-oblasts, while JAK2 mutations correlated with elevated platelet counts. Surprisingly, SF3B1 mutations led to significantly worse prognosis within cases with isolated deletion of the long arm of chromosome 5, but showed a comparable outcome to other myelodysplastic syndrome subtypes with SF3B1 mutation. However, addressing genetic stability in follow-up cases might suggest different genetic mechanisms for progression to secondary acute myeloid leukemia compared to overall myelodysplastic syndrome patients. PMID:28642303

  12. Atypical VZV Retinitis in a Patient with Good Syndrome.

    Science.gov (United States)

    Inomata, Takenori; Honda, Miki; Murakami, Akira

    2018-01-01

    To describe atypical varicella zoster virus (VZV) retinitis in a patient with Good syndrome. A 63-year-old patient with Good syndrome presented with bilateral necrotizing retinitis starting from the posterior pole. He had a history of thymoma status post thymectomy 4 years previously, left-sided sinusitis, and recent pulmonary aspergillosis. Qualitative PCR was performed on aqueous fluid. Immunological investigations revealed reduced levels of CD4 + T cells and immunoglobulins. Qualitative PCR was positive for VZV and negative for cytomegalovirus, herpes simplex virus (HSV)-1, and HSV-2. The patient was treated with oral valacyclovir and three courses of immunoglobulin supplementation. The atypical retinitis showed improvement after therapy. Good syndrome should be considered in a patient with opportunistic infections and history of thymoma in the absence of human immunodeficiency virus. Atypical retinitis can occur in patients with Good syndrome and quantitative PCR is important for accurate diagnosis.

  13. Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.

    Science.gov (United States)

    Armour, Christine M; Smith, Amanda; Hartley, Taila; Chardon, Jodi Warman; Sawyer, Sarah; Schwartzentruber, Jeremy; Hennekam, Raoul; Majewski, Jacek; Bulman, Dennis E; Suri, Mohnish; Boycott, Kym M

    2016-07-01

    In 1987 Fitzsimmons and Guilbert described identical male twins with progressive spastic paraplegia, brachydactyly with cone shaped epiphyses, short stature, dysarthria, and "low-normal" intelligence. In subsequent years, four other patients, including one set of female identical twins, a single female child, and a single male individual were described with the same features, and the eponym Fitzsimmons syndrome was adopted (OMIM #270710). We performed exome analysis of the patient described in 2009, and one of the original twins from 1987, the only patients available from the literature. No single genetic etiology exists that explains Fitzsimmons syndrome; however, multiple different genetic causes were identified. Specifically, the twins described by Fitzsimmons had heterozygous mutations in the SACS gene, the gene responsible for autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS), as well as a heterozygous mutation in the TRPS1, the gene responsible in Trichorhinophalangeal syndrome type 1 (TRPS1 type 1) which includes brachydactyly as a feature. A TBL1XR1 mutation was identified in the patient described in 2009 as contributing to his cognitive impairment and autistic features with no genetic cause identified for his spasticity or brachydactyly. The findings show that these individuals have multiple different etiologies giving rise to a similar phenotype, and that "Fitzsimmons syndrome" is in fact not one single syndrome. Over time, we anticipate that continued careful phenotyping with concomitant genome-wide analysis will continue to identify the causes of many rare syndromes, but it will also highlight that previously delineated clinical entities are, in fact, not syndromes at all. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  14. 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.

  15. Supernumerary teeth in non-syndromic patients

    OpenAIRE

    Mali, Santosh; Karjodkar, Freny Rashmiraj; Sontakke, Subodh; Sansare, Kaustubh

    2012-01-01

    Hyperdontia or supernumerary teeth without associated syndrome is a rare phenomenon, as supernumerary teeth are usually associated with cleft lip and palate or other syndromes such as Gardner's syndrome, cleidocranial dysplasia, and so on. Five patients with supernumerary teeth visited our department. They had no familial history or other pathology, certain treatment protocols was modified due to the presence of supernumerary teeth. Non-syndromic supernumerary teeth, if asymptomatic, need to ...

  16. Reactivation of Old Scars in an Elderly Man Revealing Löfgren's Syndrome

    Directory of Open Access Journals (Sweden)

    Vishnu Vardhan Reddy Munagala

    2013-01-01

    Full Text Available Here, we report the case of a 55-year-old man with reactivation of old cutaneous scars associated with a febrile illness, episcleritis, polyarthralgias, erythema nodosum and hilar adenopathy. High-resolution computed tomography (HRCT revealed right paratracheal, bilateral hilar, and subcarinal lymphadenopathy without any nodular densities in both lung fields. A scar biopsy revealed multiple noncaseating granulomas and confirmed the diagnosis of sarcoidosis. A short course of oral steroids led to regression of systemic symptoms, and the scars returned to baseline size. This patient represented a rare case of simultaneous Löfgren’s syndrome and scar sarcoidosis.

  17. Activated signature of antiphospholipid syndrome neutrophils reveals potential therapeutic target

    Science.gov (United States)

    Knight, Jason S.; Meng, He; Coit, Patrick; Yalavarthi, Srilakshmi; Sule, Gautam; Gandhi, Alex A.; Grenn, Robert C.; Mazza, Levi F.; Ali, Ramadan A.; Renauer, Paul; Wren, Jonathan D.; Bockenstedt, Paula L.; Wang, Hui; Eitzman, Daniel T.; Sawalha, Amr H.

    2017-01-01

    Antiphospholipid antibodies, present in one-third of lupus patients, increase the risk of thrombosis. We recently reported a key role for neutrophils — neutrophil extracellular traps (NETs), in particular — in the thrombotic events that define antiphospholipid syndrome (APS). To further elucidate the role of neutrophils in APS, we performed a comprehensive transcriptome analysis of neutrophils isolated from patients with primary APS. Moreover, APS-associated venous thrombosis was modeled by treating mice with IgG prepared from APS patients, followed by partial restriction of blood flow through the inferior vena cava. In patients, APS neutrophils demonstrated a proinflammatory signature with overexpression of genes relevant to IFN signaling, cellular defense, and intercellular adhesion. For in vivo studies, we focused on P-selectin glycoprotein ligand-1 (PSGL-1), a key adhesion molecule overexpressed in APS neutrophils. The introduction of APS IgG (as compared with control IgG) markedly potentiated thrombosis in WT mice, but not PSGL-1–KOs. PSGL-1 deficiency was also associated with reduced leukocyte vessel wall adhesion and NET formation. The thrombosis phenotype was restored in PSGL-1–deficient mice by infusion of WT neutrophils, while an anti–PSGL-1 monoclonal antibody inhibited APS IgG–mediated thrombosis in WT mice. PSGL-1 represents a potential therapeutic target in APS. PMID:28931754

  18. ORAL FINDINGS IN PATIENTS WITH APERT SYNDROME

    OpenAIRE

    Dalben, Gisele da Silva; Neves, Lucimara Teixeira das; Gomide, Marcia Ribeiro

    2006-01-01

    INTRODUCTION: The Apert syndrome is a rare disorder of autosomal dominant inheritance caused by mutations in the FGFR2 gene at locus 10q26; patients with this syndrome present severe syndactyly, exophthalmia, ocular hypertelorism and hypoplastic midface with Class III malocclusion, besides systemic alterations. Most investigations available on the Apert syndrome address the genetic aspect or surgical management, with little emphasis on the oral aspects. OBJECTIVE: to investigate the oral find...

  19. Screening for Cushing's syndrome in obese patients

    Directory of Open Access Journals (Sweden)

    Ozay Tiryakioglu

    2010-01-01

    Full Text Available OBJECTIVES: The aim of this study was to examine the frequency of Cushing's syndrome (CS in obese patients devoid of specific clinical symptoms of Cushing's syndrome. METHODS: A total of 150 obese patients (129 female, 21 male; mean age 44.41 ± 13.34 yr; mean BMI 35.76 ± 7.13 were included in the study. As a first screening step, we measured 24-h urinary free cortisol (UFC. An overnight 1-mg dexamethasone suppression test was also performed on all patients. Urinary free cortisol levels above 100 μg/24 h were considered to be abnormal. Suppression of serum cortisol 100 μg/24 h were recorded in 37 patients (24%. Cushing's syndrome was diagnosed in 14 of the 150 patients (9.33%. Etiologic reasons for Cushing's syndrome were pituitary microadenoma (9 patients, adrenocortical adenoma (3 patients, and adrenocortical carcinoma (1 patient. CONCLUSION: A significant proportion (9.33% of patients with simple obesity were found to have Cushing's syndrome. These findings argue that obese patients should be routinely screened for Cushing's syndrome.

  20. Abdominal Compartment Syndrome in Surgical Patients

    African Journals Online (AJOL)

    CASE SERIES. Abstract. Background: The deleterious effects of intra- abdominal hypertension and abdominal compartment syndrome, affect almost every system ..... 148(1), 81–4. 14. Nacev TV. Abdominal Compartment Syndrome. In Multiple Trauma Patients With Concomitant. Abdominal and Head Lesions --Mechanisms.

  1. RESISTANT HYPERTENSION IN A PATIENT WITH METABOLIC SYNDROME

    OpenAIRE

    O. M. Drapkina; J. S. Sibgatullina

    2016-01-01

    Clinical case of resistant hypertension in a patient with metabolic syndrome is presented. Features of hypertension in metabolic syndrome and features of metabolic syndrome in women of pre- and postmenopausal age are also considered. Understanding the features of metabolic syndrome in women, as well as features of hypertension and metabolic syndrome will improve the results of treatment in patients with resistant hypertension.

  2. The Relationship between Iron Deficiency and Restless Legs Syndrome in Hemodialysis Patients

    Directory of Open Access Journals (Sweden)

    R Ghanei Gheshlagh

    2012-10-01

    Full Text Available Introduction: Restless legs syndrome is a neurological disorder; hemodialysis patients seem to suffer more from this syndrome. Although the pathophysiology of restless legs syndrome is still unknown, assessment of factors associated with this syndrome can help to develop medical knowledge in this field. The present study assessed the relationship between restless legs syndrome, serum iron, and serum ferritin levels in patients on hemodialysis. Methods: This descriptive study was carried out with purposive sampling method on 168 hemodialysis patients who referred to the Urmia Taleghani Hospital Hemodialysis Unit. Data were gathered using restless legs syndrome questionnaire and laboratory Index of serum iron and ferritin. Data were analyzed using descriptive and inferential statistical tests. Results: The study results revealed that 38.7 percent of samples complained from restless legs syndrome whose average score serum iron was 78±29.3 μg. Results showed in hemodialysis patients with restless legs syndrome, serum iron and serum ferritin levels were significantly lower than hemodialysis patients without restless legs syndrome (p=0. 02, p=0.005. Conclusion: Considering the high prevalence of restless legs syndrome in patients with hemodialysis, identification of factors associated with this syndrome and providing the necessary solutions for modifying or eliminating the factors, seem to be necessary. Since the relationship between indicators of iron and ferritin and restless legs syndrome in hemodialysis patients is confirmed, the results can be helpful in the treatment and management of these patients.

  3. Twenty-two patients with Sotos' syndrome

    International Nuclear Information System (INIS)

    Miyake, Shota; Tada, Hiroshi; Hayashi, Michiko; Iwamoto, Hiroko; Fukushima, Yoshimitsu; Kuroki, Yoshikazu

    1985-01-01

    A retrospective study of 22 patients with Sotos' syndrome (17 boys and 5 girls) seen in the past 14 years was made respecting the age of the patients at the first visit, the age of the patients' parents at birth, neonatal abnormalities, neonatal physical characteristics, facial expression characteristics of this syndrome, growth index, and CT findings. CT showed ventricular dilation in all patients (moderate or extreme dilation in 87%, and the association of structure abnormality in the median part in many patients), subdural edema in 4 and arachnoid cyst in 2. (Namekawa, K.)

  4. Fibromyalgia syndrome in chronic urticaria patients

    OpenAIRE

    Aylin Gözübüyükoğulları; Duru Tabanlıoğlu Onan; Nuran Allı

    2014-01-01

    Background and Design: The aim of our study was to determine the frequency of fibromyalgia syndrome in chronic urticaria patients. Materials and Methods: The study was carried out with the participation of 100 chronic urticaria patients and 61 control group patients. Chronic urticaria patients were investigated for the etiology of urticaria and the autologous serum skin test was performed in those patients. Both the chronic urticaria patients and the controls were evaluated for fibromyalgi...

  5. Dental Implants in Patients with Sjogren's Syndrome

    NARCIS (Netherlands)

    Korfage, Anke; Raghoebar, Gerry M; Arends, Suzanne; Meiners, Petra M; Visser, Anita; Kroese, Frans Gm; Bootsma, Hendrika; Vissink, Arjan

    2016-01-01

    Background: Limited evidence is available for applying dental implants in Sjogren's syndrome (SS) patients. Purpose: This study aims to retrospectively assess clinical outcome of implant therapy in a cohort of well-classified patients with SS. Materials and Methods: All SS patients attending the

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

    Directory of Open Access Journals (Sweden)

    Jovana Julsoki

    2015-05-01

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

  7. Electrolyte Imbalance in Patients with Sheehan's Syndrome

    Directory of Open Access Journals (Sweden)

    Chur Hoan Lim

    2015-12-01

    Full Text Available BackgroundWe investigated the prevalence of electrolyte imbalance and the relationship between serum electrolyte and anterior pituitary hormone levels in patients with Sheehan's syndrome.MethodsIn a retrospective study, we investigated 78 patients with Sheehan's syndrome. We also included 95 normal control subjects who underwent a combined anterior pituitary hormone stimulation test and showed normal hormonal responses.ResultsIn patients with Sheehan's syndrome, the serum levels of sodium, potassium, ionized calcium, magnesium, and inorganic phosphate were significantly lower than those in control subjects. The prevalence of hyponatremia, hypokalemia, hypocalcemia, hypomagnesemia, and hypophosphatemia in patients with Sheehan's syndrome was 59.0% (n=46, 26.9% (n=21, 35.9% (n=28, 47.4% (n=37, and 23.1% (n=18, respectively. Levels of sodium and ionized calcium in serum were positively correlated with levels of all anterior pituitary hormones (all P<0.05. Levels of potassium in serum were positively correlated with adrenocorticotrophic hormone (ACTH and growth hormone (GH levels (all P<0.05. Levels of inorganic phosphate in serum were positively correlated with levels of thyroid-stimulating hormone, prolactin, and GH (all P<0.05, and levels of magnesium in serum were positively correlated with delta ACTH (P<0.01.ConclusionElectrolyte imbalance was common in patients with Sheehan's syndrome. Furthermore, the degree of anterior pituitary hormone deficiency relates to the degree of electrolyte disturbance in patients with this disease.

  8. Electrolyte Imbalance in Patients with Sheehan's Syndrome.

    Science.gov (United States)

    Lim, Chur Hoan; Han, Ji Hyun; Jin, Joon; Yu, Ji Eun; Chung, Jin Ook; Cho, Dong Hyeok; Chung, Dong Jin; Chung, Min Young

    2015-12-01

    We investigated the prevalence of electrolyte imbalance and the relationship between serum electrolyte and anterior pituitary hormone levels in patients with Sheehan's syndrome. In a retrospective study, we investigated 78 patients with Sheehan's syndrome. We also included 95 normal control subjects who underwent a combined anterior pituitary hormone stimulation test and showed normal hormonal responses. In patients with Sheehan's syndrome, the serum levels of sodium, potassium, ionized calcium, magnesium, and inorganic phosphate were significantly lower than those in control subjects. The prevalence of hyponatremia, hypokalemia, hypocalcemia, hypomagnesemia, and hypophosphatemia in patients with Sheehan's syndrome was 59.0% (n=46), 26.9% (n=21), 35.9% (n=28), 47.4% (n=37), and 23.1% (n=18), respectively. Levels of sodium and ionized calcium in serum were positively correlated with levels of all anterior pituitary hormones (all Phormone (ACTH) and growth hormone (GH) levels (all Phormone, prolactin, and GH (all Pimbalance was common in patients with Sheehan's syndrome. Furthermore, the degree of anterior pituitary hormone deficiency relates to the degree of electrolyte disturbance in patients with this disease.

  9. CT scan findings of patients with Rett syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Suzuki, Hisaharu; Takanashi, Aiko; Hirayama, Yoshito; Sakuragawa, Norio; Arima, Masataka; Tateno, Akihiko; Koide, Hiroyoshi.

    1989-05-01

    CT findings and clinical features were analyzed in 16 female patients with Rett syndrome, whose ages were between 4 and 20. Fifteen patients had microcrania. Twelve patients were able to stand and run; however, the remaining 4 patients had the only ability to sit. CT revealed an atrophy of the ponse and various degrees of dilatation in the Silvian fissure, frontal sulcus, and space between the cranium and the frontal polar lobe. An atrophy in the frontal lobe, cerebral cortex surrounding the Silvian fissure, and white matter directly below the cortex seemed to have an important role in the occurrence of this syndrome. There was, however, no definitive correlation between the degree of atrophy and both the patient's age and motor function. Serial CT scannings with clinical process are required. (Namekawa, K).

  10. Supernumerary teeth in non-syndromic patients.

    Science.gov (United States)

    Mali, Santosh; Karjodkar, Freny Rashmiraj; Sontakke, Subodh; Sansare, Kaustubh

    2012-03-01

    Hyperdontia or supernumerary teeth without associated syndrome is a rare phenomenon, as supernumerary teeth are usually associated with cleft lip and palate or other syndromes such as Gardner's syndrome, cleidocranial dysplasia, and so on. Five patients with supernumerary teeth visited our department. They had no familial history or other pathology, certain treatment protocols was modified due to the presence of supernumerary teeth. Non-syndromic supernumerary teeth, if asymptomatic, need to have periodical radiographic observation. If they showed no variation as they impacted in the jaw, careful examination is necessary because they may develop into pathological status such as dentigerous cysts. The importance of a precise clinical history and radiographic examination for patients with multiple supernumerary teeth should be emphasized.

  11. Supernumerary teeth in non-syndromic patients

    Energy Technology Data Exchange (ETDEWEB)

    Mali, Santosh; Karjodkar, Freny Rashmiraj; Sontakke, Subodh; Sansare, Kaustubh [Nair Hospital Dental College, Maharashtra (India)

    2012-03-15

    Hyperdontia or supernumerary teeth without associated syndrome is a rare phenomenon, as supernumerary teeth are usually associated with cleft lip and palate or other syndromes such as Gardner's syndrome, cleidocranial dysplasia, and so on. Five patients with supernumerary teeth visited our department. They had no familial history or other pathology, certain treatment protocols was modified due to the presence of supernumerary teeth. Non-syndromic supernumerary teeth, if asymptomatic, need to have periodical radiographic observation. If they showed no variation as they impacted in the jaw, careful examination is necessary because they may develop into pathological status such as dentigerous cysts. The importance of a precise clinical history and radiographic examination for patients with multiple supernumerary teeth should be emphasized.

  12. Supernumerary teeth in non-syndromic patients

    International Nuclear Information System (INIS)

    Mali, Santosh; Karjodkar, Freny Rashmiraj; Sontakke, Subodh; Sansare, Kaustubh

    2012-01-01

    Hyperdontia or supernumerary teeth without associated syndrome is a rare phenomenon, as supernumerary teeth are usually associated with cleft lip and palate or other syndromes such as Gardner's syndrome, cleidocranial dysplasia, and so on. Five patients with supernumerary teeth visited our department. They had no familial history or other pathology, certain treatment protocols was modified due to the presence of supernumerary teeth. Non-syndromic supernumerary teeth, if asymptomatic, need to have periodical radiographic observation. If they showed no variation as they impacted in the jaw, careful examination is necessary because they may develop into pathological status such as dentigerous cysts. The importance of a precise clinical history and radiographic examination for patients with multiple supernumerary teeth should be emphasized.

  13. Pseudo Prune Belly Syndrome: Diagnosis Revealed by Imaging – A Case Report and Brief Review

    Science.gov (United States)

    Grover, Hemal; Sethi, Sanjay; Garg, Jatin; Ahluwalia, Amrit Pal

    2017-01-01

    Summary Background Prune Belly Syndrome (PBS) is a rare entity, usually found in male neonates. It comprises complex urinary tract anomalies, bilateral undescended testis and absence of anterior abdominal wall muscles. Patients with unilateral abdominal wall deficiency, unilateral undescended testis and female neonates with abdominal wall laxity are classified as Pseudo Prune Belly syndrome (PPBS). Reports on PPBS do not highlight the radiological and imaging characteristics of this syndrome and the current literature on the role of newer imaging modalities, such as Magnetic Resonance Imaging (MRI), remains relatively sparse. We describe a new case of PPBS and emphasize the role of imaging, especially ultrasound and MRI in the process of diagnosis and briefly review the subject. Case Report A male infant of four months of age was referred for evaluation of left-sided cryptorchidism. Clinical examination revealed laxity of the left abdominal wall. Ultrasound examination of the abdomen, pelvis and scrotum was performed together with routine laboratory tests. Ultrasound examination was followed by intravenous urography, voiding cysto-urethrography and MRI of the abdomen. On ultrasound, the left testis was located in the inguinal canal, the right kidney was slightly enlarged and the left kidney could not be localized. Ultrasound appearances suggested chronic obstruction in the urinary bladder. Intravenous urography, voiding cysto-urethrography and MRI confirmed the ultrasound diagnosis and also revealed a left dysplastic kidney with a dilated, tortuous ureter. Clinical and imaging features were consistent with pseudo prune belly syndrome (PPBS). Conclusions We report a new occurrence of PPBS, a rare entity. The imaging approach for a comprehensive evaluation of the renal system in PPBS, especially with MRI, is emphasized. PMID:28580040

  14. Pseudo Prune Belly Syndrome: Diagnosis Revealed by Imaging - A Case Report and Brief Review.

    Science.gov (United States)

    Grover, Hemal; Sethi, Sanjay; Garg, Jatin; Ahluwalia, Amrit Pal

    2017-01-01

    Prune Belly Syndrome (PBS) is a rare entity, usually found in male neonates. It comprises complex urinary tract anomalies, bilateral undescended testis and absence of anterior abdominal wall muscles. Patients with unilateral abdominal wall deficiency, unilateral undescended testis and female neonates with abdominal wall laxity are classified as Pseudo Prune Belly syndrome (PPBS). Reports on PPBS do not highlight the radiological and imaging characteristics of this syndrome and the current literature on the role of newer imaging modalities, such as Magnetic Resonance Imaging (MRI), remains relatively sparse. We describe a new case of PPBS and emphasize the role of imaging, especially ultrasound and MRI in the process of diagnosis and briefly review the subject. A male infant of four months of age was referred for evaluation of left-sided cryptorchidism. Clinical examination revealed laxity of the left abdominal wall. Ultrasound examination of the abdomen, pelvis and scrotum was performed together with routine laboratory tests. Ultrasound examination was followed by intravenous urography, voiding cysto-urethrography and MRI of the abdomen. On ultrasound, the left testis was located in the inguinal canal, the right kidney was slightly enlarged and the left kidney could not be localized. Ultrasound appearances suggested chronic obstruction in the urinary bladder. Intravenous urography, voiding cysto-urethrography and MRI confirmed the ultrasound diagnosis and also revealed a left dysplastic kidney with a dilated, tortuous ureter. Clinical and imaging features were consistent with pseudo prune belly syndrome (PPBS). We report a new occurrence of PPBS, a rare entity. The imaging approach for a comprehensive evaluation of the renal system in PPBS, especially with MRI, is emphasized.

  15. Investigating hyperventilation syndrome in patients suffering from empty nose syndrome.

    Science.gov (United States)

    Mangin, David; Bequignon, Emilie; Zerah-Lancner, Francoise; Isabey, Daniel; Louis, Bruno; Adnot, Serge; Papon, Jean-François; Coste, André; Boyer, Laurent; Devars du Mayne, Marie

    2017-09-01

    Patients with empty nose syndrome (ENS) following turbinate surgery often complain about breathing difficulties. We set out to determine if dyspnea in patients with ENS was associated with hyperventilation syndrome (HVS). We hypothesized that lower airway symptoms in ENS could be explained by HVS. Observational prospective study. All consecutive patients referred to our center for ENS over 1 year were invited to participate. Patients completed the Nijmegen score and underwent a hyperventilation provocation test (HVPT) and arterial blood gas and cardiopulmonary tests. HVS was defined by a delayed return of the end-tidal partial pressure of carbon dioxide in the expired gas to baseline during HVPT. Patients with HVS were asked to complete the Sinonasal Outcome Test (SNOT)-16 questionnaire before and after a specific eight-session respiratory rehabilitation program. Twenty-two of the 29 patients referred for ENS during the study period were eligible for inclusion and underwent a complete workup. HVS was diagnosed in 17 of these patients (77.3%). In the five patients who completed the SNOT-16, the score was significantly lower after rehabilitation. This study suggests that HVS is frequent in patients with ENS, and that symptoms can be improved by respiratory rehabilitation. Pathophysiological links between ENS and HVS deserve to be further explored. 2b Laryngoscope, 127:1983-1988, 2017. © 2017 The American Laryngological, Rhinological and Otological Society, Inc.

  16. THE METABOLIC SYNDROME AMONG PATIENTS WITH ...

    African Journals Online (AJOL)

    Objectives: To determine the frequency of occurrence of the Metabolic Syndrome among patients presenting with cardiovascular disease at the Korle Bu Teaching Hospital, Ghana. Methods: This was a case-control study of 100 con-secutive cardiovascular disease patients and 100 age- and sex- matched controls who ...

  17. Neuronal networks in west syndrome as revealed by source analysis and renormalized partial directed coherence.

    Science.gov (United States)

    Japaridze, Natia; Muthuraman, Muthuraman; Moeller, Friederike; Boor, Rainer; Anwar, Abdul Rauf; Deuschl, Günther; Stephani, Urlich; Raethjen, Jan; Siniatchkin, Michael

    2013-01-01

    West syndrome is a severe epileptic encephalopathy of infancy with a poor developmental outcome. This syndrome is associated with the pathognomonic EEG feature of hypsarrhythmia. The aim of the study was to describe neuronal networks underlying hypsarrhythmia using the source analysis method (dynamic imaging of coherent sources or DICS) which represents an inverse solution algorithm in the frequency domain. In order to investigate the interaction within the detected network, a renormalized partial directed coherence (RPDC) method was also applied as a measure of the directionality of information flow between the source signals. Both DICS and RPDC were performed for EEG delta activity (1-4 Hz) in eight patients with West syndrome and in eight patients with partial epilepsies (control group). The brain area with the strongest power in the given frequency range was defined as the reference region. The coherence between this reference region and the entire brain was computed using DICS. After that, the RPDC was applied to the source signals estimated by DICS. The results of electrical source imaging were compared to results of a previous EEG-fMRI study which had been carried out using the same cohort of patients. As revealed by DICS, delta activity in hypsarrhythmia was associated with coherent sources in the occipital cortex (main source) as well as the parietal cortex, putamen, caudate nucleus and brainstem. In patients with partial epilepsies, delta activity could be attributed to sources in the occipital, parietal and sensory-motor cortex. In West syndrome, RPDC showed the strongest and most significant direction of ascending information flow from the brainstem towards the putamen and cerebral cortex. The neuronal network underlying hypsarrhythmia in this study resembles the network which was described in previous EEG-fMRI and PET studies with involvement of the brainstem, putamen and cortical regions in the generation of hypsarrhythmia. The RPDC suggests that

  18. Hearing impairment in genotyped Wolfram syndrome patients.

    Science.gov (United States)

    Plantinga, Rutger F; Pennings, Ronald J E; Huygen, Patrick L M; Bruno, Rocco; Eller, Philipp; Barrett, Timothy G; Vialettes, Bernard; Paquis-Fluklinger, Veronique; Lombardo, Fortunato; Cremers, Cor W R J

    2008-07-01

    Wolfram syndrome is a progressive neurodegenerative syndrome characterized by the features "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). We sought to study the audiometric data of genotyped Wolfram syndrome patients with sensorineural hearing impairment. Pure tone threshold data of 23 Wolfram syndrome patients were used for cross-sectional analysis in subgroups (age less than 16 years or between 19 and 25 years, gender, and origin). All subgroups, with 1 exception, showed a fairly similar type of hearing impairment with, on average, thresholds of about 25 dB (range, 0 to 65 dB) at 0.25 to 1 kHz, gently sloping downward to about 60 dB (range, 25 to 95 dB) at 8 kHz. The subgroup of Dutch women, which was excluded from the calculations of the average hearing thresholds, showed a higher degree of hearing impairment. Only the latter subgroup showed progression; however, contrary to the previous longitudinal analysis, progression was not significant in the present cross-sectional analysis, presumably because of the high degree of cross-subject variability. This unique collection of audiometric data from genotyped Wolfram syndrome patients shows no substantial progression in sensorineural hearing impairment with advancing age, no relation to the types of WFS1 mutations identified, and, with exclusion of the subgroup of Dutch female patients, no significant sex-related differences.

  19. [Correlation between blood stasis syndrome and pathological characteristics of coronary artery in patients with coronary heart disease].

    Science.gov (United States)

    Du, Jian-Peng; Shi, Da-Zhuo; Li, Tian-Chang; Xu, Hao; Chen, Hao

    2010-09-01

    To study the correlation of blood stasis syndrome or its accompanied syndromes with Gensini score in patients with coronary heart disease (CHD) in stable condition. The syndrome types of traditional Chinese medicine (TCM) and blood stasis score in 131 CHD patients confirmed by coronary angiography were recorded. Gensini score was calculated according to the coronary pathological characteristics showed by angiography. The correlations of blood stasis syndrome and its accompanied syndromes with coronary lesion and Gensini score were analyzed. Among the TCM syndrome types, blood stasis, turbid phlegm and qi deficiency were the most common syndromes, revealed in 85 patients (64.9%), 83 patients (63.4%) and 85 patients (64.9%), respectively. The coronary lesion length and Gensini score in the patients with blood stasis syndrome were much higher than those in the patients with non-blood stasis syndrome (Psyndrome were higher than those in the patients with non-blood stasis syndrome (Psyndrome score was more than 9 points, the coronary lesion length was higher than that in the patients whose blood stasis syndrome score was less than 9 points (Psyndrome score showed no correlation with Gensini score (Pearson correlation coefficient was 0.104, P=0.241). Blood stasis syndrome is the most common TCM syndrome in CHD patients in stable condition. The blood stasis syndrome score is proportional to coronary lesion length, and reflects the severity of coronary lesion.

  20. Alagille syndrome: Review of 14 patients

    OpenAIRE

    Purnamawati S. Pujiarto; Arnold L. Smith

    2017-01-01

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

  1. Inflammatory Syndromes (SIRS, MARS, CARS) in Patients with Surgical Infection.

    Science.gov (United States)

    Ostanin, Alexander A.; Leplina, Olga Yu.; Shevela, Caterina Ya.; Kozhevnikov, Vladimir S.; Chernykh, Helen R.

    2000-10-01

    In the present study 37 patients with surgical infection were investigated and a new set of diagnostic tests for detection of major syndromes of systemic inflammation - systemic inflammatory response syndrome (SIRS), compensatory anti-inflammatory response syndrome (CARS) and mixed antagonist response syndrome (MARS) - was developed. In summary, we have demonstrated that patients with surgical infection were characterized by an immunodeficiency with significant reduction of mitogen-induced proliferation and IL-2/IL-4 production in vitro combined with decrease of HLA DR(+) monocytes. Furthermore, it was revealed that the patient's serum exhibited substantially enhanced suppressive and inflammatory activities as well as the level of C-reactive protein. We have defined the negative correlation between the serum inflammatory and suppressive activities (SIA and SSA) that was most prominent at the early stage of disease. Since the changes of serum bioactivity in the course of surgical infection were prominent and coherent, we supposed that tested activities might reflect the distinctive features of systemic inflammation. In according to this assumption, the patients were divided into 3 subgroups with predominance of SIRS, CARS and MARS by using the SIA and SSA expression. It has been shown that SIRS was more frequently detected at the early stage, whereas CARS - at the late stage of disease. Patients with SIRS, CARS or MARS significantly differed by the content of CD8(+) T and CD72(+) B lymphocytes, the concentration of IgG and IgA, the production of IL-2 and IL-4. Finally, the data obtained from patients, those were studied repeatedly, showed the possibility of transformation of the major systemic inflammatory syndromes during the disease course. Our findings suggest that measurement of serum inflammatory and suppressive activities may help to differentiate patients with SIRS, CARS or MARS and to select the appropriate strategy of immunotherapy.

  2. Othello syndrome in a patient with two left hemispheric tumors

    Directory of Open Access Journals (Sweden)

    Po-Kuan Yeh

    2016-01-01

    Full Text Available We report a case of a patient with Othello syndrome caused by two left hemispheric tumors. This 50-year-old female had experienced seizures for 10 years and developed manic-like symptoms, delusions of jealousy, persecution and being watched, auditory hallucinations, irritable mood, and violent and disorganized behavior for the past 3 years. Brain imaging studies revealed two left frontal tumors, the larger of which was causing a mass effect. The delusions of jealousy in Othello syndrome resolved after removing the larger tumor, and the other psychiatric symptoms improved after treatment with psychotropic medications. This report aims to raise awareness of Othello syndrome related to disruptions in cortico-subcortical connections in the left orbitofrontal region. Timely surgical treatment may prevent associated psychiatric comorbidities and increase the likelihood of a good outcome.

  3. BURNOUT SYNDROME IN PATIENTS WITH WORKPLACE HYPERTENSION

    Directory of Open Access Journals (Sweden)

    Yu. P. Zinchenko

    2016-01-01

    Full Text Available Aim. To study the presence, severity and qualitative characteristics of «burnout syndrome» in patients with «workplace hypertension» (WPH, in comparison with patients with essential hypertension and healthy people.Material and methods. Untreated patients with hypertension stage II, degree 1-2 (n=170; age 32-52 years; mean age 46.7Ѓ}4.1 years were examined. Group 1 included 85 patients with WPH (mean age 44.7Ѓ}4.3 years and Group 2 included 85 patients without WPH (mean age 47.4Ѓ}4.5 years. The duration of hypertension on average was 7.2Ѓ}2.6 years and was comparable in both groups. The control group included 82 healthy subjects (mean age 44.9Ѓ}3.1 years. The Russian version of the Maslach Burnout Inventory (MBI was used to diagnose «burnout syndrome».Results. Signs of «burnout syndrome» were found in the hypertensive patients of both groups. The high and medium levels of the «burnout syndrome» severity according to all three analyzed factors (emotional exhaustion, dehumanization/depersonification, and personal achievements were found in 59% of WPH patients, in 36% of hypertensive patients without WPH, and in 9% of healthy individuals. Most of WPH patients had high emotional exhaustion compared with other groups (27.5Ѓ}3.67 points vs 24.6Ѓ}4.3 and 20.1Ѓ}5.7 points in group 2, and group of healthy, respectively; p<0.05. Hypertensive men rated themselves as less successful professionally in comparison with women. Hypertensive women were more prone to emotional exhaustion and dehumanization/depersonification in comparison with men. Conclusion. Signs of «burnout syndrome» were found significantly more often in hypertensive patients in both groups than in healthy people. Medium and high intensity of all forms of «burnout syndrome» occurred in patients with WPH in comparison with healthy people and hypertensive patients without WPH.

  4. Network analysis reveals distinct clinical syndromes underlying acute mountain sickness.

    Directory of Open Access Journals (Sweden)

    David P Hall

    Full Text Available Acute mountain sickness (AMS is a common problem among visitors at high altitude, and may progress to life-threatening pulmonary and cerebral oedema in a minority of cases. International consensus defines AMS as a constellation of subjective, non-specific symptoms. Specifically, headache, sleep disturbance, fatigue and dizziness are given equal diagnostic weighting. Different pathophysiological mechanisms are now thought to underlie headache and sleep disturbance during acute exposure to high altitude. Hence, these symptoms may not belong together as a single syndrome. Using a novel visual analogue scale (VAS, we sought to undertake a systematic exploration of the symptomatology of AMS using an unbiased, data-driven approach originally designed for analysis of gene expression. Symptom scores were collected from 292 subjects during 1110 subject-days at altitudes between 3650 m and 5200 m on Apex expeditions to Bolivia and Kilimanjaro. Three distinct patterns of symptoms were consistently identified. Although fatigue is a ubiquitous finding, sleep disturbance and headache are each commonly reported without the other. The commonest pattern of symptoms was sleep disturbance and fatigue, with little or no headache. In subjects reporting severe headache, 40% did not report sleep disturbance. Sleep disturbance correlates poorly with other symptoms of AMS (Mean Spearman correlation 0.25. These results challenge the accepted paradigm that AMS is a single disease process and describe at least two distinct syndromes following acute ascent to high altitude. This approach to analysing symptom patterns has potential utility in other clinical syndromes.

  5. Clinical Features of Chinese of Chinese Patients with Fuchs' Syndrome

    NARCIS (Netherlands)

    Peizeng Yang,; Haoli Jin,; Bing Li,; Xuan Chen,; Kijlstra, A.

    2006-01-01

    Purpose: To characterize the clinical features of Chinese patients with Fuchs' syndrome. Design: Retrospective noncomparative case series. Participants: One hundred eighteen eyes of 104 consecutive patients with Fuchs' syndrome initially examined between January 1999 and March 2005. Methods: The

  6. Predictors of Kidney Damage in Patients with Metabolic Syndrome

    Directory of Open Access Journals (Sweden)

    Dara Kutsyk

    2017-06-01

    Full Text Available Metabolic syndrome is an epidemic of XXI century. Each of the components of metabolic syndrome (arterial hypertension, hyperglycemia or dyslipidemia can be a risk factor for chronic kidney disease. However, it remains unknown what plays a key role in the progression of the disease. The objective of the research was to identify early detectors of kidney damage in patients with metabolic syndrome. Materials and methods. The study involved 70 patients with metabolic syndrome. In addition to standard examination methods, markers of endothelial disfunction (hydrogen sulfide and nitrogen monooxide were measured in venous blood samples and the urine was tested for microalbuminuria. All the patients were divided into 3 groups according to the degree of albuminuria: normoalbuminuria, microalbuminuria and macroalbuminuria. To compare the indices between the groups, the Student’s t-test was used; to determine the relationship between the individual values, the Pearson correlation coefficient (r was applied. Results. The indicator of systolic blood pressure was higher in patients with microalbuminuria compared to those with normoalbuminuria (163.4±14.4 mmHg, versus 153.0±17.7 mmHg; p<0.01. Hydrogen sulfide level was higher in patients with normoalbuminuria (66.8±7.2 µmol. There was a moderate positive correlation between systolic blood pressure and microalbuminuria (r=0.3804; p<0.01 and a moderate negative correlation between hydrogen sulfide and microalbuminuria (r=0.3404; p<0.01. Conclusions. We revealed a decrease in hydrogen sulfide level to 57.4±7.9 µmol in patients with metabolic syndrome. This may be an early predictor of kidney damage.

  7. Metabolic syndrome among Ghanaian patients presenting with ...

    African Journals Online (AJOL)

    Metabolic syndrome (MetS) is a general risk factor for cardiovascular and chronic kidney disease (CKD) in Western populations. This study assessed the relationship between MetS and its compo-nents in Ghanaian patients presenting with CKD. The study population comprised of 146 non-dialysed individuals with CKD with ...

  8. The Metabolic Syndrome Among Patients With Cardiovascular ...

    African Journals Online (AJOL)

    2011-12-01

    Dec 1, 2011 ... (KBTH), Accra, Ghana. METHODS. This case-control study was undertaken at the depart- ment of Medicine, (KBTH), Accra, Ghana, over a 12- month period. A case was any patient who was admit- ted to the medical ward with a stroke, acute coronary syndrome, peripheral arterial disease or heart failure re-.

  9. Posterior reversible encephalopathy syndrome in patient

    African Journals Online (AJOL)

    abp

    2015-05-26

    May 26, 2015 ... We report the management of one patient with postpartum preeclampsia as an association of HELLP syndrome ... recognized, clinical and neuro-radiological entity first described in. 1996 by Hinchey et al. .... cause and immediate action to identify potential triggering drugs, controlling hypertension, and ...

  10. Abdominal Compartment Syndrome in Surgical Patients | Muturi ...

    African Journals Online (AJOL)

    Background: The deleterious effects of intraabdominal hypertension and abdominal compartment syndrome, affect almost every system. Patients at risk are the critically ill, in whom it leads to alteredorgan perfusion and end organ dysfunction/failure. The five cases reported highlight the diagnostic and management ...

  11. Pseudo Prune Belly Syndrome: Diagnosis Revealed by Imaging ? A Case Report and Brief Review

    OpenAIRE

    Grover, Hemal; Sethi, Sanjay; Garg, Jatin; Ahluwalia, Amrit Pal

    2017-01-01

    Summary Background Prune Belly Syndrome (PBS) is a rare entity, usually found in male neonates. It comprises complex urinary tract anomalies, bilateral undescended testis and absence of anterior abdominal wall muscles. Patients with unilateral abdominal wall deficiency, unilateral undescended testis and female neonates with abdominal wall laxity are classified as Pseudo Prune Belly syndrome (PPBS). Reports on PPBS do not highlight the radiological and imaging characteristics of this syndrome ...

  12. Chiasmal syndrome: Clinical characteristics in patients attending an ophthalmological center.

    Science.gov (United States)

    Astorga-Carballo, Aline; Serna-Ojeda, Juan Carlos; Camargo-Suarez, Mayra Fabiola

    2017-01-01

    To present the clinical characteristics of a group of patients with the diagnosis of chiasmal syndrome who attended a large ophthalmological institute. Retrospective, observational clinical study with the review of medical records of patients with a diagnosis of chiasmal syndrome. The following variables were assessed: demographic characteristics, chief complaint upon presentation, best-corrected visual acuity (BCVA), presence or absence of diplopia, pupillary responses, optic nerve head morphology, etiology, and results from the ancillary tests including Ishihara test, Goldmann visual field (GVF) perimetry and neuroimaging. A total of 104 met the inclusion criteria, with a median age of 52 years (range 4-86 years). Fifty-four patients (51.9%) were referred to our institution with a diagnosis of a causative etiology for chiasmal syndrome, while in 50 (48.1%) the diagnosis was performed at our center. The most common presenting symptom was low visual acuity in 57 patients (54.8%), and the most common GVF defect was bitemporal hemianopsia in 39 patients (78 eyes, 39.8%). Pupillary abnormalities were present in 58 patients (55.7%), the optic nerve revealed pallor at any degree in 67 patients (64.4%) and the Ishihara test was affected in 65 patients (62.5%). The most common diagnosis was pituitary macroadenoma. The ophthalmologist participates in the diagnosis and rehabilitation of patients with chiasmal syndrome. Low visual acuity is the most common symptom at presentation, and bitemporal hemianopia the most frequent GVF defect. Examination of the optic nerve head and pupillary responses, and ancillary tests including Ishihara test and neuroimaging are relevant for diagnosis.

  13. Amyloid arthropathy revealed by RS3PE syndrome.

    Science.gov (United States)

    Magy, N; Michel, F; Auge, B; Toussirot, E; Wendling, D

    2000-01-01

    Amyloid arthropathy is a form of primary AL amyloidosis with a monoclonal component in the blood and/or urine, and RS3PE syndrome is acute edematous polysynovitis in subjects older than 60 years. A 74-year-old man was diagnosed with both disorders. He was admitted for benign acute polyarthritis of the hands and feet and reported carpal tunnel symptoms predominating on the right. A synovial biopsy at the right wrist disclosed deposits that stained with Congo red even after potassium permanganate treatment (positive Wright's test). Articular AL amyloidosis was diagnosed. The symptoms resolved under glucocorticoid therapy alone, casting some doubt on their relationship with the amyloidosis. Roentgenograms showed geodes, a feature not present in RS3PE. Whether RS3PE may be among the possible presentations of articular amyloidosis is discussed.

  14. Physiotherapy improves patient reported shoulder function and health status in patients with subacromial impingement syndrome

    DEFF Research Database (Denmark)

    Storgaard, Filip Holst; Pedersen, Christina Gravgaard; Jensen, Majbritt Lykke

    Physiotherapy improves patient reported shoulder function and health status in patients with subacromial impingement syndrome.......Physiotherapy improves patient reported shoulder function and health status in patients with subacromial impingement syndrome....

  15. Multiple long bone cysts revealed by MRI in trichorhinophalangeal syndrome type II predisposing to pathological fractures

    Energy Technology Data Exchange (ETDEWEB)

    Konala, Praveen; Cassar-Pullicino, Victor N. [The Robert Jones and Agnes Hunt Orthopaedic Hospital, Department of Radiology, Oswestry (United Kingdom); Kiely, Nigel [The Robert Jones and Agnes Hunt Orthopaedic Hospital, Department of Orthopaedic Surgery, Oswestry (United Kingdom); Noakes, Charlotte [Oxford University Hospital, The Oxford Genetics Laboratories, Oxford (United Kingdom); Blair, Edward [Oxford University Hospital, Department of Clinical Genetics, Oxford (United Kingdom)

    2017-07-15

    Trichorhinophalangeal syndrome type II is a rare genetic disorder with the few published case reports mainly reporting the radiographic skeletal manifestations. There are no published imaging reports of long bone cysts involving multiple bones in this condition. We report a unique case of bone cysts involving multiple long bones detected with MRI in a patient with trichorhinophalangeal syndrome type II complicated by a subsequent pathological fracture. It is possible that the bone cysts are a previously undescribed feature of this syndrome; however, the evidence is insufficient to establish a definite association. Chromosomal abnormality identified in this patient is consistent with trichorhinophalangeal syndrome type II with no unusual features. Although the nature of these bone cysts is unclear, they are one of the causes of the known increased fracture risk observed in this syndrome. (orig.)

  16. Suspected metastatic adrenocortical carcinoma revealing as pulmonary Kaposi sarcoma in adrenal Cushing’s syndrome

    Science.gov (United States)

    2014-01-01

    Background Kaposi sarcoma (KS) is a malignant disease most commonly diagnosed in the setting of a human immunodeficiency virus (HIV) infection and in patients receiving immunosuppressive treatment. Pulmonary KS has never been reported in association with endogenous Cushing’s syndrome (CS). Case presentation A 60-year-old woman presented with symptoms and signs of CS. Adrenal CS was confirmed by standard biochemical evaluation. Imaging revealed a right adrenal lesion (diameter 3.5 cm) and multiple pulmonary nodules, suggesting a cortisol-secreting adrenal carcinoma with pulmonary metastases. The patient underwent right adrenalectomy with a pathohistological diagnosis of an adrenal adenoma. Subsequent thoracoscopic wedge resection of one lung lesion revealed pulmonary KS with positive immunostaining for human herpes virus 8 (HHV-8). HIV-serology was negative. Hydrocortisone replacement was initiated for secondary adrenal insufficiency after surgery. Post-operative follow up imaging showed complete remission of all KS-related pulmonary nodules solely after resolution of hypercortisolism. Conclusion KS may occur in the setting of endogenous CS and may go into remission after cure of hypercortisolism without further specific treatment. PMID:25077599

  17. CHD7 mutations in patients initially diagnosed with Kallmann syndrome - the clinical overlap with CHARGE syndrome

    NARCIS (Netherlands)

    Jongmans, M. C. J.; van Ravenswaaij-Arts, C. M. A.; Pitteloud, N.; Ogata, T.; Sato, N.; Claahsen-van der Grinten, H. L.; van der Donk, K.; Seminara, S.; Bergman, J. E. H.; Brunner, H. G.; Crowley, W. F.; Hoefsloot, L. H.

    Kallmann syndrome (KS) is the combination of hypogonadotropic hypogonadism and anosmia or hyposmia, two features that are also frequently present in CHARGE syndrome. CHARGE syndrome is caused by mutations in the CHD7 gene. We performed analysis of CHD7 in 36 patients with KS and 20 patients with

  18. Bilateral branch pulmonary artery stenosis and Mitral valve prolapse in a patient with Noonan syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Meenakshi Kadiyala

    2014-01-01

    Full Text Available Rasopathy syndromes are a class of phenotypically similar, but genetically distinct multiple anomaly syndromes caused by germ line mutations in genes that encode protein components of the Ras/mitogen activated protein kinase (MAPK pathway. Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome are part of this group of developmental syndromes and have similar cardiac abnormalities. A 19-year-old male presented with complaints of exertional breathlessness class I for 6 months. Clinical examination revealed characteristic facial features, skeletal abnormalities, growth and neurocognitive problems reported in patients with Noonan syndrome. There was evidence of severe pulmonary hypertension. Trans-thoracic echocardiography revealed right atrial and right ventricular enlargement, severe pulmonary hypertension, no intra cardiac shunt, prolapse of anterior mitral leaflet with mild mitral regurgitation. CT pulmonary angiogram revealed bilateral branch pulmonary artery stenosis. A final diagnosis of Noonan syndrome was made.

  19. Current Surgical Outcomes of Congenital Heart Surgery for Patients With Down Syndrome in Japan.

    Science.gov (United States)

    Hoashi, Takaya; Hirahara, Norimichi; Murakami, Arata; Hirata, Yasutaka; Ichikawa, Hajime; Kobayashi, Junjiro; Takamoto, Shinichi

    2018-01-25

    Current surgical outcomes of congenital heart surgery for patients with Down syndrome are unclear.Methods and Results:Of 29,087 operations between 2008 and 2012 registered in the Japan Congenital Cardiovascular Surgery Database (JCCVSD), 2,651 were carried out for patients with Down syndrome (9%). Of those, 5 major biventricular repair procedures [ventricular septal defect repair (n=752), atrioventricular septal defect repair (n=452), patent ductus arteriosus closure (n=184), atrial septal defect repair (n=167), tetralogy of Fallot (TOF) repair (n=108)], as well as 2 major single ventricular palliations [bidirectional Glenn (n=21) and Fontan operation (n=25)] were selected and their outcomes were compared. The 90-day and in-hospital mortality rates for all 5 major biventricular repair procedures and bidirectional Glenn were similarly low in patients with Down syndrome compared with patients without Down syndrome. On the other hand, mortality after Fontan operation in patients with Down syndrome was significantly higher than in patients without Down syndrome (42/1,558=2.7% vs. 3/25=12.0%, P=0.005). Although intensive management of pulmonary hypertension is essential, analysis of the JCCVSD revealed favorable early prognostic outcomes after 5 major biventricular procedures and bidirectional Glenn in patients with Down syndrome. Indication of the Fontan operation for patients with Down syndrome should be carefully decided.

  20. Restless legs syndrome in patients on hemodialysis

    Directory of Open Access Journals (Sweden)

    Saleh Mohammad Yaser Salman

    2011-01-01

    Full Text Available Restless legs syndrome (RLS is common among dialysis patients, with a reported prevalence of 6-60%. The prevalence of RLS in Syrian patients on hemodialysis (HD is not known. The purpose of this study is to determine the prevalence of RLS in patients on regular HD, and to find the possible correlation between the presence of RLS and demographic, clinical, and biochemical factors. One hundred and twenty-three patients (male/female = 70/53, mean age = 41.95 ± 15.11 years on HD therapy at the Aleppo University Hospital were enrolled into the study. RLS was diagnosed based on criteria established by the International Restless Legs Syn-drome Study Group (IRLSSG. Data procured were compared between patients with and without RLS. Applying the IRLSSG criteria for the diagnosis, RLS was seen in 20.3% of the study pa-tients. No significant difference in age, gender, and intake of nicotine and caffeine was found between patients with and without the RLS. Similarly, there was no difference between the two groups in the duration of end-stage renal disease (ESRD, the period of dialysis dependence, dialysis adequacy, urea and creatinine levels, and the presence of anemia. The co-morbidities and the use of drugs also did not differ in the two groups. Our study suggests that the high prevalence of RLS among patients on HD requires careful attention and correct diagnosis can lead to better therapy and better quality of life. The pathogenesis of RLS is not clear and further studies are required to identify any possible cause as well as to discover the impact of this syndrome on sleep, quality of life, and possibly other complications such as cardiovasculare disease.

  1. Metabolic syndrome in Tunisian bipolar I patients | Ezzaher | African ...

    African Journals Online (AJOL)

    Gender, age, illness episode and treatment were not significantly associated with metabolic syndrome, while patients under lithium had higher prevalence of metabolic syndrome than those under valproic acid, carbamazepine or antipsychotics. Patients with metabolic syndrome had significant higher levels of HOMA-IR and ...

  2. Metabolic syndrome criteria as predictors of insulin resistance, inflammation and mortality in chronic hemodialysis patients.

    Science.gov (United States)

    Vogt, Barbara Perez; Souza, Priscilla L; Minicucci, Marcos Ferreira; Martin, Luis Cuadrado; Barretti, Pasqual; Caramori, Jacqueline Teixeira

    2014-10-01

    Abstract Background: Chronic kidney disease (CKD) and metabolic syndrome are characterized by overlapping disorders, including glucose intolerance, hypertension, dyslipidemia, and, in some cases, obesity. However, there are no specific criteria for the diagnosis of metabolic syndrome in CKD. Metabolic syndrome can also be associated with increased risk of mortality. Some traditional risk factors may protect dialysis patients from mortality, known as "reverse epidemiology." Metabolic syndrome might undergo reverse epidemiology. The objectives were to detect differences in frequency and metabolic characteristics associated with three sets of diagnostic criteria for metabolic syndrome, to evaluate the accuracy of insulin resistance (IR) and inflammation to identify patients with metabolic syndrome, and to investigate the effects of metabolic syndrome by three sets of diagnostic criteria on mortality in chronic hemodialysis patients. An observational study was conducted. Diagnostic criteria for metabolic syndrome proposed by National Cholesterol Education Program Adult Treatment Panel III (NCEP ATP III), International Diabetes Federation (IDF), and Harmonizing the Metabolic Syndrome (HMetS) statement were applied to 98 hemodialysis patients. The prevalence of metabolic syndrome was 51%, 66.3%, and 75.3% according to NCEP ATP III, IDF, and HMetS criteria, respectively. Diagnosis of metabolic syndrome by HMetS was simultaneously capable of revealing both inflammation and IR, whereas NCEP ATP III and IDF criteria were only able to identify IR. Mortality risk increased in the presence of metabolic syndrome regardless of the criteria used. The prevalence of metabolic syndrome in hemodialysis varies according to the diagnostic criteria used. IR and inflammation predict metabolic syndrome only when diagnosed by HMetS criteria. HMetS was the diagnostic criteria that can predict the highest risk of mortality.

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

    Science.gov (United States)

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

    2017-01-01

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

  4. 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...

  5. Alagille syndrome: Review of 14 patients

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    Purnamawati S. Pujiarto

    2017-02-01

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

  6. De Toni-Debré-Fanconi syndrome in a patient with Kearns-Sayre syndrome: a case report

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    Mihai Cristina

    2009-11-01

    Full Text Available Abstract Introduction Kearns-Sayre syndrome is a mitochondrial myopathy that demonstrates chronic progressive ophthalmoplegia with onset before the age of 20 and pigmentary degeneration of the retina. Case presentation We report the case of an 18-year-old Romanian man with short stature, external ophthalmoplegia, palpebral ptosis, myopathy, sensorineural hearing impairment, cerebellar ataxia, cardiac conduction defect, diabetes mellitus, hypoparathyroidism and hyperaldosteronism. The patient's evolution showed progressive insufficiency of the renal tubule: hyperphosphaturia, hyperaminoaciduria and, later, glucosuria (de Toni-Debré-Fanconi syndrome, a syndrome, to date, rarely diagnosed in association with complete Kearns-Sayre syndrome. The final diagnosis was delayed for several years and was only established when he developed diabetes mellitus. Southern blot analysis and polymerase chain reaction amplification revealed the presence of a deletion in the mitochondrial DNA. Conclusion Despite the rarity of this syndrome, the diagnosis was easily made due to the presence of the classic triad: external ophthalmoplegia, pigmentary retinopathy and onset in a patient younger than 20 years old. In our opinion, a search for Kearns-Sayre syndrome in all patients with de Toni-Debré-Fanconi syndrome is a valuable medical routine.

  7. Ocular symptoms and signs in patients with ectodermal dysplasia syndromes.

    Science.gov (United States)

    Kaercher, T

    2004-06-01

    The ectodermal dysplasia syndromes are underestimated although precise inclusion criteria have been formulated. The purpose is to establish easily detectable ophthalmologic symptoms and signs as reliable criteria for ectodermal dysplasia syndromes. Thirty-six patients with confirmed ectodermal dysplasia syndromes were included in an observational case series: hypohidrotic ectodermal dysplasia (30), EEC syndrome (3), AEC syndrome (2), Gorlin-Goltz syndrome (1). Each patient was examined ophthalmologically. The principal outcome measures were ocular symptoms and signs in patients with different ectodermal dysplasia syndromes of varying severity. Some 94.4% of the patients suffered from dry eye symptoms. Reduction of eyebrows was seen in 94.4%; the lashes were altered in 91.6%. Changes of the meibomian glands were detected in 95.45%. Corneal changes such as pannus occurred later in life. Alterations of the meibomian glands, which were detected by meibomianoscopy, are the most reliable ocular sign of ectodermal dysplasia syndromes.

  8. Craniofacial abnormalities among patients with Edwards Syndrome

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    Rafael Fabiano M. Rosa

    2013-09-01

    Full Text Available OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES. METHODS This descriptive and retrospective study of a case series included all patients diagnosed with ES in a Clinical Genetics Service of a reference hospital in Southern Brazil from 1975 to 2008. The results of the karyotypic analysis, along with clinical data, were collected from medical records. RESULTS: The sample consisted of 50 patients, of which 66% were female. The median age at first evaluation was 14 days. Regarding the karyotypes, full trisomy of chromosome 18 was the main alteration (90%. Mosaicism was observed in 10%. The main craniofacial abnormalities were: microretrognathia (76%, abnormalities of the ear helix/dysplastic ears (70%, prominent occiput (52%, posteriorly rotated (46% and low set ears (44%, and short palpebral fissures/blepharophimosis (46%. Other uncommon - but relevant - abnormalities included: microtia (18%, orofacial clefts (12%, preauricular tags (10%, facial palsy (4%, encephalocele (4%, absence of external auditory canal (2% and asymmetric face (2%. One patient had an initial suspicion of oculo-auriculo-vertebral spectrum (OAVS or Goldenhar syndrome. CONCLUSIONS: Despite the literature description of a characteristic clinical presentation for ES, craniofacial alterations may be variable among these patients. The OAVS findings in this sample are noteworthy. The association of ES with OAVS has been reported once in the literature.

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

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    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.

  10. Electroconvulsive therapy in a patient with moyamoya syndrome.

    Science.gov (United States)

    Ghignone, Erica; Rosenthal, Lisa; Lloyd, Robert Brett; Mouli, Samdeep; Dinwiddie, Stephen

    2015-03-01

    We report on a 30-year-old woman diagnosed with moyamoya syndrome resulting from sickle cell disease who developed catatonia and was successfully treated with electroconvulsive therapy (ECT). Neuroimaging revealed severe tandem narrowing of the left internal carotid artery with diminished cerebral blood flow, moderate narrowing of the right supraclinoid aspect of the right internal carotid artery, and associated numerous lenticulostriate collaterals bilaterally, consistent with moyamoya. The patient presented with mutism; posturing; immobility; stupor; withdrawal; refusal to eat, drink, or speak; and staring, supporting a diagnosis of catatonia. It initially responded to a lorazepam challenge; however, a complicated hospital course and deterioration of the patient's condition, including septic shock, delirium, and continued catatonic symptoms, led to the pursuit of ECT to treat her symptoms. We discuss the risks involved with the administration of ECT in a patient with fragile cerebral vasculature and the successful treatment of catatonia in this patient without resultant stroke or cerebral hemorrhage.

  11. Orthodontic treatment considerations in Down syndrome patients

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    Sianiwati Goenharto

    2012-03-01

    Full Text Available Background: Down syndrome is an easily recognized congenital disease anomaly, a common autosomal chromosomal anomaly with high prevalence of malocclusion. Orthodontic treatment demand should be high but it seems difficult to be done because of specific condition of disability. Purpose: The purpose of this literature review was to discribe the orthodontic problems found in Down syndrome patients and several consideration that shoud be done to treat them. Reviews: Many studies report the high prevalence of malocclusion among people with Down syndrome. There is a greater frequency of clas III relationship, crossbite, crowding and also open bite. Several problems might appear in the treatment because of dental, medical, mental, and behavioural factor. Conclusion: It is concluded that orthodonic treatment can be performed in Down syndrome patient, although several difficulties may appear. Good consideration in mental, behavior, medical and also dental condition will influence whether the treatment will success or not. Special care and facilities will support the orthodontic treatment.Latar belakang: Sindroma Down adalah suatu kelainan congenital yang mudah dikenali, merupakan kelaian kromosom autosomal yang cukup banyak terjadi, dengan prevalensi maloklusi cukup tinggi. Seharusnya permintaan akan perawatan ortodonti juga tinggi meskipun tampaknya sulit dilakukan karena adanya kondisi ketidakmampuan/cacat yang spesifik. Tujuan: Tujuan studi pustaka ini adalah untuk menggambarkan problem perawatan ortodonti pada penderita sindroma Down dan pertimbangan apa yang sebaiknya diambil untuk mengatasi masalah tersebut. Tinjauan pustaka: Banyak penelitian melaporkan tentang prevalensi maloklusi yang tinggi pada penderita sindroma Down. Maloklusi yang sering dijumpai adalah relasi klas III, gigitan silang, berdesakan dan juga gigitan terbuka. Problem dapat terjadi saat perawatan ortodonti karena adanya faktor dental, medis, mental dan tingkah laku penderita

  12. [Perioperative approach of patient with takotsubo syndrome].

    Science.gov (United States)

    Barros, Joana; Gomes, Diana; Caramelo, Susana; Pereira, Marta

    Takotsubo cardiomyopathy (TCM) is a stress-induced cardiomyopathy. It is characterized by an acute onset of symptoms and electrocardiographic abnormalities mimicking an acute coronary syndrome in the absence of obstructive coronary artery disease. Any anesthetic-surgical event corresponds to a stressful situation, so the anesthetic management of patients with TCM requires special care throughout the perioperative period. We describe the anesthetic management of a patient with a confirmed diagnosis of TCM undergoing segmental colectomy. Female patient, 55 years old, ASA III, with history of takotsubo syndrome diagnosed 2 years ago, scheduled for segmental colectomy. The patient, without other changes in preoperative evaluation, underwent general anesthesia associated with lumbar epidural and remained hemodynamically stable during the 2hours of surgery. After a brief stay in the Post-Anesthesia Care Unit, she was transferred to the Intermediate Care Unit (IMCU), with epidural analgesia for postoperative period. TCM is a rare disease which true pathophysiology remains unclear, as well as the most appropriate anesthetic-surgical strategy. In this case, through a preventive approach, with close monitoring and the lowest possible stimulus, all the perioperative period was uneventful. Because it is a rare disease, this report could help to raise awareness about TCM. Copyright © 2015 Sociedade Brasileira de Anestesiologia. Publicado por Elsevier Editora Ltda. All rights reserved.

  13. Evaluation of patients with acute vestibular syndrome.

    Science.gov (United States)

    Thabet, Elsaeid

    2008-03-01

    Acute vestibular syndrome is characterized by a rapid unilateral injury to either peripheral or central vestibular structures. It consists of severe vertigo, nausea and vomiting, spontaneous nystagmus, and postural instability. In many cases, a peripheral etiology is considered although it may be due to an underlying serious central pathology. The present study was designed to investigate the feasibility of differentiating the cause of acute vestibular syndrome in such patients using clinical, audiovestibular and radiologic tools. We performed a case series study of patients complaining of acute vertigo at a university referring center for hearing and balance disorders. Thirty patients with history of acute vertigo within 3 days onset with no history of previous otological or neurological disorders. Eighteen patients were due to acute peripheral vestibular lesion, 1 due to psychiatric illness under antidepressant drugs and 11 were of central vestibular lesion. The most important step in the diagnosis of acute vertigo is a thorough and detailed history. The common error of carrying out investigations in place of a detailed history is to be avoided. The clinical evaluation has the highest sensitivity and specificity in differentiating central from peripheral vestibular lesions.

  14. Lateral frontal cortex volume reduction in Tourette syndrome revealed by VBM

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    Wittfoth Matthias

    2012-02-01

    Full Text Available Abstract Background Structural changes have been found predominantly in the frontal cortex and in the striatum in children and adolescents with Gilles de la Tourette syndrome (GTS. The influence of comorbid symptomatology is unclear. Here we sought to address the question of gray matter abnormalities in GTS patients with co-morbid obsessive-compulsive disorder (OCD and/or attention deficit hyperactivity disorder (ADHD using voxel-based morphometry (VBM in twenty-nine adult actually unmedicated GTS patients and twenty-five healthy control subjects. Results In GTS we detected a cluster of decreased gray matter volume in the left inferior frontal gyrus (IFG, but no regions demonstrating volume increases. By comparing subgroups of GTS with comorbid ADHD to the subgroup with comorbid OCD, we found a left-sided amygdalar volume increase. Conclusions From our results it is suggested that the left IFG may constitute a common underlying structural correlate of GTS with co-morbid OCD/ADHD. A volume reduction in this brain region that has been previously identified as a key region in OCD and was associated with the active inhibition of attentional processes may reflect the failure to control behavior. Amygdala volume increase is discussed on the background of a linkage of this structure with ADHD symptomatology. Correlations with clinical data revealed gray matter volume changes in specific brain areas that have been described in these conditions each.

  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) or the A...

  16. DXA measurements in rett syndrome reveal small bones with low bone mass

    DEFF Research Database (Denmark)

    Roende, Gitte; Ravn, Kirstine; Fuglsang, Kathrine

    2011-01-01

    Low bone mass is reported in growth-retarded patients harboring mutations in the X-linked methyl-CpG-binding protein 2 (MECP2) gene causing Rett syndrome (RTT). We present the first study addressing both bone mineral density (BMD) and bone size in RTT. Our object was to determine whether patients...

  17. Incidence of serotonin syndrome in patients treated with fentanyl on serotonergic agents.

    Science.gov (United States)

    Koury, Katharine M; Tsui, Becky; Gulur, Padma

    2015-01-01

    There has been a recent surge in the literature highlighting the association of fentanyl as precipitating serotonin syndrome in patients on a serotonergic agent. The purpose of our study was to understand the incidence of serotonin syndrome in patients who receive fentanyl while on serotonergic agents. This retrospective analysis was conducted from 2012 to 2013 after approval from the Institutional Review Board. We searched for all patients that had received a serotonergic agent and were admitted to the hospital during the study period. Next, we split these patients into 2 groups by placing all patients who had received fentanyl and a serotonergic agent into one group. We then searched for any of the Hunter Serotonin Toxicity Criteria in the records of patients that had received both fentanyl and a serotonergic agent. Further, we searched for all patients with serotonin syndrome mentioned in their records. This study was conducted at a 900 bed tertiary care academic center. Over the 2 year study period, 112,045 patients were on a serotonergic agent, and 4,538 of these patients were treated with both fentanyl and a serotonergic agent. A search for Hunter's Criteria through the records of the patients receiving both fentanyl and a serotonergic agent revealed 23 patients had been documented with some of these symptoms. On detailed chart review, only 4 [95% CI 1 - 10] of these patients truly met Hunter's Criteria for serotonin syndrome. We then searched all admissions for a diagnosis code of serotonin syndrome during the study period. Five additional cases of serotonin syndrome were found, but none of these patients were treated with fentanyl. Some of the limitations of our study include that it represents a single institution, although it is a large academic center. An inherent limitation may be the under diagnosis of serotonin syndrome. The incidence of serotonin syndrome in patients who receive both fentanyl and a serotonergic agent is low.

  18. Metabolic syndrome in patients with prostate cancer undergoing intermittent androgen-deprivation therapy.

    Science.gov (United States)

    Rezaei, Mohammadali Mohammadzadeh; Rezaei, Mohammadhadi Mohammadzadeh; Ghoreifi, Alireza; Kerigh, Behzad Feyzzadeh

    2016-01-01

    The presence of metabolic syndrome in men with prostate cancer (PCa) undergoing androgen-deprivation therapy (ADT), especially intermittent type, has not been completely evaluated. The aim of this study is to evaluate metabolic syndrome in men with PCa undergoing intermittent ADT. In this longitudinal study, we studied the prevalence of metabolic syndrome and its components in 190 patients who were undergoing intermittent ADT. The metabolic syndrome was defined according to the Adult Treatment Panel III criteria. All metabolic parameters, including lipid profile, blood glucose, blood pressures, and waist circumferences of the patients were measured six and 12 months after treatment. Mean age of the patients was 67.5 ± 6.74 years. The incidence of metabolic syndrome after six and 12 months was 6.8% and 14.7%, respectively. Analysis of various components of the metabolic syndrome revealed that patients had significantly higher overall prevalence of hyperglycemia, abdominal obesity, and hypertriglyceridemia in their six- and 12-month followups, but blood pressure has not been changed in the same period except for diastolic blood pressure after six months. Although there was an increased risk of metabolic syndrome in patients receiving intermittent ADT, it was lower than other studies that treated the same patients with continuous ADT. Also it seems that intermittent ADT has less metabolic complications than continuous ADT and could be used as a safe alternative in patients with advanced and metastatic PCa.

  19. Definition of 5q11.2 Microdeletion Syndrome Reveals Overlap with CHARGE Syndrome and 22q11 Deletion Syndrome Phenotypes

    NARCIS (Netherlands)

    Blok, Charlotte Snijders; Corsten-Janssen, Nicole; FitzPatrick, David R.; Romano, Corrado; Fichera, Marco; Vitello, Girolamo Aurelio; Willemsen, Marjolein H.; Schoots, Jeroen; Pfundt, Rolph; van Ravenswaaij-Arts, Conny M. A.; Hoefsloot, Lies; Kleefstra, Tjitske

    2014-01-01

    Microdeletions of the 5q11.2 region are rare; in literature only two patients with a deletion in this region have been reported so far. In this study, we describe four additional patients and further define this new 5q11.2 microdeletion syndrome. A comparison of the features observed in all six

  20. Down patients with Eisenmenger syndrome : Is bosentan treatment an option?

    NARCIS (Netherlands)

    Duffels, Marielle G. J.; Vis, Jeroen C.; van Loon, Rosa L. E.; Berger, Rolf M. F.; Hoendermis, Elke S.; van Dijk, Arie P. J.; Bouma, Berto J.; Mulder, Barbara J. M.

    2009-01-01

    Background: Favorable results of treatment with bosentan in patients with Eisenmenger syndrome are available. However, data in Down patients are lacking. In this study, we evaluate the therapeutic role of bosentan treatment in Down patients with Eisenmenger syndrome. Methods: In this open-label

  1. Clinical Characteristics of Dry Eye Patients With Chronic Pain Syndromes

    NARCIS (Netherlands)

    Vehof, Jelle; Smitt-Kamminga, Nicole Sillevis; Kozareva, Diana; Nibourg, Simone A.; Hammond, Christopher J.

    PURPOSE: To investigate clinical characteristics of dry eye disease (DED) patients with a chronic pain syndrome. DESIGN: Cross-sectional. study. METHODS: Four hundred twenty-five patients of a tertiary care DED patient cohort in the Netherlands were included. Chronic pain syndromes irritable bowel

  2. [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

  3. Type III Mixed Cryoglobulinemia and Antiphospholipid Syndrome in a Patient With Partial DiGeorge Syndrome

    Directory of Open Access Journals (Sweden)

    Alice D. Chang

    2006-01-01

    Full Text Available We studied a 14 year-old boy with partial DiGeorge syndrome (DGS, status post complete repair of Tetralogy of Fallot, who developed antiphospholipid syndrome (APS and type III mixed cryoglobulinemia. He presented with recurrent fever and dyspnea upon exertion secondary to right pulmonary embolus on chest computed tomography (CT. Coagulation studies revealed homozygous methylene tetrahydrofolate reductase 677TT mutations, elevated cardiolipin IgM antibodies, and elevated β2-glycoprotein I IgM antibodies. Infectious work-up revealed only positive anti-streptolysin O (ASO and anti-DNAse B titers. Autoimmune studies showed strongly positive anti-platelet IgM, elevated rheumatoid factor (RF, and positive cryocrit. Renal biopsy for evaluation of proteinuria and hematuria showed diffuse proliferative glomerulonephritis (DPGN with membranoproliferative features consistent with cryoglobulinemia. Immunofixation showed polyclonal bands. Our patient was treated successfully with antibiotics, prednisone, and mycophenolate mofetil (MMF. This is the first report of a patient with partial DGS presenting with APS and type III mixed cryoglobulinemia possibly due to Streptococcal infection.

  4. Irritable Bowel Syndrome in a Population of African Patients

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    Sylvester Chuks Nwokediuko

    2012-01-01

    Full Text Available Background. Functional dyspepsia is the prototype functional gastrointestinal disorder. This study was designed to determine its prevalence, subtypes, and risk factors associated with the subtypes. Method. Patients with upper gastrointestinal symptoms who presented for endoscopy were administered a questionnaire containing the functional dyspepsia and irritable bowel syndrome modules of the Rome III diagnostic criteria. Results. Of 192 patients who had functional dyspepsia, epigastric pain syndrome, postprandial distress syndrome, and combination of the two subtypes accounted for 79.2%, 62.5%, and 50%, respectively. Multivariate analysis of the risk factors showed that independent predictors of postprandial distress syndrome were alcohol and irritable bowel syndrome while irritable bowel syndrome was independent predictor of epigastric pain syndrome. Alcohol, smoking, and use of nonsteroidal anti-inflammatory drugs were independent predictors of cooccurrence of postprandial distress syndrome and epigastric pain syndrome. Conclusion. Functional dyspepsia accounts for 62.5% of dyspepsia in a population of black African patients. Regarding symptomatology, epigastric pain syndrome, postprandial distress syndrome, and combination of the two subtypes account for 79.2%, 62.5%, and 50%, respectively. Risk factors for functional dyspepsia are irritable bowel syndrome, alcohol, smoking, and use of nonsteroidal anti-inflammatory drugs.

  5. Prenatal and early diagnosis of Chinese 3-M syndrome patients with novel pathogenic variants.

    Science.gov (United States)

    Hu, Xuyun; Li, Hongdou; Gui, Baoheng; Xu, Yufei; Wang, Jin; Li, Niu; Su, Jiasun; Zhang, Shujie; Song, Yanning; Wang, Yi; Luo, Jingsi; Fan, Xin; Wang, Jian; Chen, Shaoke; Gong, Chunxiu; Shen, Yiping

    2017-11-01

    3-M syndrome is a clinically recognizable yet under-diagnosed primordial growth retardation disorder. Molecular testing for CUL7, OBSL1 or CCDC8 genes can provide confirmed diagnosis for patients at prenatal or early age. So far, the clinical and molecular features of Chinese 3-M syndrome patients have not been reported. In this article, the authors performed prenatal and early diagnosis of Chinese patients with 3-M syndrome by Next-Generation Sequencing. The authors reported six unrelated Chinese 3-M syndrome patients. Five of the six patients were diagnosed before two years of age including one prenatal case. The authors identified six novel pathogenic variants and five previously reported pathogenic variants. The authors' clinical evaluations indicated that Chinese 3-M syndrome patients share similar recognizable features as those reported in patients of other ethnic background. The authors noticed some uncommon features in this small cohort of Chinese patients such as delayed motor development at early ages, undelayed bone age and presence of lower eyelid fat pads. The authors' study of Chinese 3-M syndrome patients revealed novel mutations and clinical phenotypes. Copyright © 2017. Published by Elsevier B.V.

  6. Othello syndrome in patients with Parkinson's disease.

    Science.gov (United States)

    Georgiev, Dejan; Danieli, Aljosa; Ocepek, Lidija; Novak, Dominika; Zupancic-Kriznar, Nina; Trost, Maja; Pirtosek, Zvezdan

    2010-03-01

    Othello syndrome (OS) is an organic delusional disorder with prevailing jealousy symptoms presumably appearing as side effect of antiparkinsonian therapy. The clinical spectrum of psychiatric symptoms in Parkinson's disease (PD) is very wide, including symptoms of depression and anxiety, hallucinations, delusions, with prevalent paranoid symptoms, agitation, delirium and sleep disorders. At our knowledge, just a few cases of patients with PD and OS were reported till now. three neurologists working in a tertiary referral centre were asked to report cases of pathological jealousy as defined by the DSM IV criteria (Kaplan et al. 1994). The following data were collected retrospectively: sex, age at PD onset, age at OS onset, duration of PD, duration of PD treatment, duration of treatment with dopamine agonists (DAs), treatment of OS, past history of alcoholism, premorbid personality disorder, family history of psychiatric disorders and data about general cognitive condition. Five PD patients (three males) with OS were investigated. The mean age of the patients at the PD onset was 46.80+/-8.87 (SD), the mean age at the OS onset was 56.40+/-8.76 (SD). Before the onset of OS, all of them were taking dopamine agonists. The first patient was treated with pramipexole, apomorphine infusion and levodopa/carbidopa, the second with apomorphine infusion plus levodopa/carbidopa/entacapone, the third with pramipexole, the fourth and fifth with ropinirole. Decrease of dopamine agonist led to clinical improvement in three patients (complete reduction of the symptoms in two, reduction of symptoms in one patients). In two patients, the symptoms remained the same. In three patients atypical neuroleptics had to be added: clozapine in two and quetiapine in one patient. We believe that OS is a more common psychiatric side effect in PD patients on treatment with dopamine agonists than usually believed, particulary in those with early disease onset. It is a very disturbing symptom for

  7. 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.

  8. Restless legs syndrome in hemodialysis patients

    Directory of Open Access Journals (Sweden)

    Shahram Rafie

    2016-01-01

    Full Text Available Restless legs syndrome (RLS is a neurological disorder characterized by uncomfortable sensation of paresthesia in legs that subsequently causes involuntary and continuous movement of the lower limbs, especially at rest. Its prevalence in hemodialysis is more than that in the general population. Different risk factors have been suggested for RLS. We studied the prevalence and risk factors of RLS in 137 hemodialysis patients followed up at our center. The patients completed at least three months on dialysis and fulfilled four criteria for the diagnosis of RLS. We compared the patients with and without RLS, and the odds ratios (ORs were estimated by the logistic regression models. The prevalence of RLS was 36.5% in the study patients. Among the variables, diabetes was the only predicting factor for the development of RLS. The diabetic patients may be afflicted with RLS 2.25 times more than the non-diabetics. Women developed severe RLS 5.23 times more than men. Neurodegeneration, decrease in dopamine level, higher total oxidant status, and neuropathy in diabetic patients may explain the RLS symptoms.

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

    Science.gov (United States)

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

    2017-06-01

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

  10. Reconstitution Inflammatory Syndrome Like Reactive Hemophagocytic Syndrome Associated with Disseminated Histoplasmosis in a HIV Patient.

    Science.gov (United States)

    Gómez-Espejo, Sandra M; Olalla-Sierra, Julián; Marí-Jiménez, Pilar; Pereda-Salguero, Teresa; Pérez-Stachowski, Javier; de-la-Torre-Lima, Javier; Del-Arco-Jiménez, Alfonso; Prada-Pardal, José L

    2017-08-01

    We describe an unusual clinical association of disseminated histoplasmosis with reactive hemophagocytic syndrome. We report the case of a new HIV-positive patient with reconstitution inflammatory syndrome like reactive hemophagocytic syndrome associated with disseminated histoplasmosis. We describe the clinical case, the procedures performed, the treatment provided and the patient's evolution. A figure of liver biopsy Grocott's silver methenamine stain that shows lots of uniform ovoid yeasts in portal spaces' macrophages that supports the diagnosis of disseminated histoplasmosis in our case.

  11. Superior vena cava syndrome in hemodialysis patient

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    Azeb Molhem

    2011-01-01

    Full Text Available Obstruction of blood flow in the superior vena cava (SVC results in symptoms and signs of SVC syndrome. SVC obstruction can be caused either by invasion or external compression of the SVC by contagious pathologic processes involving the right lung, lymph nodes, and other mediastinal structures, or by thrombosis of blood within the SVC. Occasionally, both mechanisms co-exist. We hereby report a case of a 28-year-old male, Saudi patient who was diagnosed with end-stage renal disease and was maintained on regular hemodiaysis via right jugular vein dual lumen catheter for ten months. Three years later, the patient presented with signs and symptoms suggestive of SVC obstruction that was successfully managed with SVC stenting.

  12. Visual Hallucinations in a Patient with Horner's Syndrome Secondary to Internal Carotid Dissection

    OpenAIRE

    Amardeep Singh; Panteleimon Mortzos; Torben Lykke Sørensen

    2014-01-01

    A 67-year-old female presented with post-ganglionic Horner's syndrome. In addition to the classical symptoms of Horner's syndrome, the patient reported experiencing frightening complex visual and auditory hallucinations on two different occasions. Magnetic resonance angiography of the cerebrum, neck and upper thorax revealed internal carotid dissection. The symptoms and hallucinatory experiences resolved soon after antiplatelet therapy was commenced. We propose peduncular hallucinosis as the ...

  13. Superior Vena Cava Syndrome in a Patient with Small-Cell Lung Cancer: A Case Report

    OpenAIRE

    Christina Brzezniak; Bryan Oronsky; Corey A. Carter; Bennett Thilagar; Scott Caroen; Karen Zeman

    2017-01-01

    Superior vena cava (SVC) syndrome, a potential oncologic emergency, is closely associated with malignancy and right-sided lung cancer in particular. A case of SVC syndrome presenting with facial swelling, neck distension, and enlarged veins of the upper chest, which developed over a period of 5 weeks in a 46-year-old patient on a clinical trial with small-cell lung cancer, is reported. Computed tomography scan of the chest revealed slight enlargement of a superior conglomerate mediastinal lym...

  14. Twiddler's syndrome in a patient with CRT-D device – A case report

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    Dheeraj D. Bhatt

    2015-11-01

    Full Text Available Twiddler's syndrome is a rare cause of pacemaker lead dislodgement. A 61-year-old female patient was implanted with a defibrillator capable of cardiac re-synchronization therapy (CRT-D; 10 months later, she presented with uneasiness and vibratory sensations in the chest. Fluoroscopy revealed rotation of the pulse generator along its longitudinal axis and dislodgement of all three leads. Diagnosis of Twiddler's syndrome was made.

  15. Metabolic syndrome in patients with severe mental illness in Gorgan

    Science.gov (United States)

    Kamkar, Mohammad Zaman; Sanagoo, Akram; Zargarani, Fatemeh; Jouybari, Leila; Marjani, Abdoljalal

    2016-01-01

    Background: Metabolic syndrome is commonly associated with cardiovascular diseases and psychiatric mental illness. Hence, we aimed to assess the metabolic syndrome among severe mental illness (SMI). Materials and Methods: The study included 267 patients who were referred to the psychiatric unit at 5th Azar Education Hospital of Golestan University of Medical Sciences in Gorgan, Iran. Results: The mean waist circumference, systolic and diastolic blood pressure, triglyceride and fasting blood glucose levels were significantly higher in the SMI with metabolic syndrome, but the high density lipoprotein (HDL)-cholesterol was significantly lower. The prevalence of metabolic syndrome in SMI patients was 20.60%. There were significant differences in the mean of waist circumference, systolic (except for women) and diastolic blood pressure, triglyceride, HDL-cholesterol and fasting blood glucose in men and women with metabolic syndrome when compared with subjects without metabolic syndrome. The prevalence of metabolic syndrome in SMI women was higher than men. The most age distribution was in range of 30-39 years old. The most prevalence of metabolic syndrome was in age groups 50-59 years old. The prevalence of metabolic syndrome was increased from 30 to 59 years old. Conclusion: The prevalence of metabolic syndrome in patients with SMI in Gorgan is almost similar to those observed in Asian countries. The prevalence of metabolic syndrome was lower than western countries. These observations may be due to cultural differences in the region. It should be mention that the families of mental illness subjects in our country believe that their patients must be cared better than people without mental illness. These findings of this study suggest that mental illness patients are at risk of metabolic syndrome. According to our results, risk factors such as age and gender differences may play an important role in the presence of metabolic syndrome. In our country, women do less

  16. Epilepsy in patients with Angelman syndrome

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    Fiumara Agata

    2010-04-01

    Full Text Available Abstract Angelman syndrome (AS is a neuro-behavioural, genetically determined condition, characterized by ataxic jerky movements, happy sociable disposition and unprovoked bouts of laughter in association with seizures, learning disabilities and language impairment. Most of the cases are hardly diagnosed during infancy as jerky movements, the cardinal sign, appear later in childhood. AS is caused by a variety of genetic mechanisms involving the 15q 11-13 chromosome. About 70% of cases are due to a "de novo" interstitial deletion in the long arm region, arising on the maternally inherited chromosome. The diagnosis is confirmed by methylation test or by mutation analysis of UBE3A gene. The deletion phenotype is generally linked to a more severe clinical picture in that 95% of patients manifest more severe seizures, severe mental and motor retardation, dysmorphic features and microcephaly. The pathogenesis of epilepsy in AS is still not fully understood. The presence in the commonly deleted region of a cluster of genes coding for 3 subunits of the GABAa receptor complex has lead to the hypothesis that GABA neurotransmission is involved. Epilepsy, often severe and hard to control, is present in 85% of patients within the first three years of life, although less than 25% develop seizures during the first year. It was observed that febrile seizures often precede the diagnosis. Most frequent types are atypical absences, generalized tonic-clonic, atonic or myoclonic seizures, with multiple seizure types occurring in 50% of deleted patients. There is still some doubt about the association with West syndrome. The EEG abnormalities are not themselves pathognomonic of AS and both background activity and epileptic discharges vary even in the same patient with time. Nevertheless, the existence of some suggestive patterns should facilitate the early diagnosis allowing the correct genetic counselling for the family. Some drugs seems to act better than others

  17. Serum adipocytokine profile and metabolic syndrome in young adult female dermatomyositis patients.

    Science.gov (United States)

    Silva, Marilda Guimarães; Borba, Eduardo Ferreira; Mello, Suzana Beatriz Veríssimo de; Shinjo, Samuel Katsuyuki

    2016-12-01

    To analyse the frequency of metabolic syndrome in young adult female dermatomyositis patients and its possible association with clinical and laboratory dermatomyositis-related features and serum adipocytokines. This cross-sectional study included 35 dermatomyositis patients and 48 healthy controls. Metabolic syndrome was defined according to the 2009 Joint Interim Statement. Patient age was comparable in the dermatomyositis and control groups, and the median disease duration was 1.0 year. An increased prevalence of metabolic syndrome was detected in the dermatomyositis group (34.3% vs. 6.3%; p=0.001). In addition, increased serum adiponectin and resistin levels were noted in contrast to lower leptin levels. In dermatomyositis patients, adipocytokine levels were correlated with the levels of total cholesterol, low-density cholesterol, triglycerides and muscle enzymes. A comparison of dermatomyositis patients with (n=12) and without (n=23) syndrome metabolic revealed that adipocytokine levels were also correlated with age, and that dermatomyositis patients with metabolic syndrome tended to have more disease activity despite similar adipocytokine levels. Metabolic syndrome is highly prevalent in young adult female dermatomyositis patients and is related to age and disease activity. Moreover, increased serum adiponectin and resistin levels were detected in dermatomyositis patients, but lower serum leptin levels were observed.

  18. Unprovoked Pulmonary Embolism in a Young Patient with Marfan Syndrome.

    Science.gov (United States)

    Pak, Stella; Kilgore, Andrew; Thornhill, Rosanne; Rako, Kyle; Meier, Ali; Pora, Gavriella; Costello, Jillian M; Dee, Christine

    2017-09-05

    Marfan syndrome is a rare connective tissue disorder with a prevalence of approximately 2 to 3 per 10,000 individuals. There have been some reports of young patients with Marfan syndrome developing arteriovenous thromboembolism. These events were unprovoked and recurrent. Owing to its rarity, hypercoagulopathy and other metabolic derangement in patients with Marfan syndrome remains largely unknown. Herein, we report a case of a young man with Marfan syndrome who had myocardial infarction and pulmonary embolism. We hope that this case adds to the scant body of knowledge about this patient population.

  19. Pseudoexfoliation syndrome in Ethiopian glaucoma patients.

    Science.gov (United States)

    Bedri, A; Alemu, B

    1999-05-01

    Pseudoexfoliation syndrome (PXS) has variable prevalence rates in the glaucoma population depending on geographic location and racial composition of the population studied. There is no data available on this subject in Ethiopia. To determine the prevalence of PXS among Ethiopian glaucoma clinic population. A prospective study. The Glaucoma Clinic of Menelik-II-Hospital, which is a tertiary eye care centre in Addis Ababa, Ethiopia. All new patients with glaucoma or ocular hypertension (ocular HPN) seen during the study period from 1st April to 30th September 1996 were included in the study. Our of the 432 new patients of glaucoma or ocular HPN seen during the study, 108 patients (25%) had PXS. The age of PXS cases ranged from 32 years to 86 years (mean 62.3 years). There were 80 males and 28 females. Of the PXS patients, 104 (96.3%) were cases of chronic open angle glaucoma, while angle closure glaucoma and ocular HPN were rare comprising only two patients (1.85%) each. The relatively high prevalence rate of PXS among Ethiopian glaucoma clinic population found in this study stresses the need for further community-based research in order to prevent blindness due to glaucoma associated with PXS.

  20. Communication preferences in patients with fibromyalgia syndrome: descriptive results and patient characteristics as predictors

    Directory of Open Access Journals (Sweden)

    Ullrich A

    2014-01-01

    Full Text Available Antje Ullrich, Johannes Hauer, Erik Farin Medical Center, University of Freiburg, Institute for Quality Management and Social Medicine, Freiburg, Germany Background: Communication with patients with fibromyalgia syndrome (FMS is often considered difficult. The primary objective of this explorative study was to describe the communication preferences of FMS patients in comparison with other chronic diseases, and the secondary objective was to identify patient-related predictors of those communication preferences. Methods: A total of 256 FMS patients were asked to fill out the KOPRA [(Kommunikationspraeferenzen, communication preferences of patients with chronic illness] questionnaire at the beginning of their rehabilitation, answering questions about their communication preferences. The KOPRA’s descriptive parameters were calculated and compared with other diagnosis groups. In order to include as many influencing factors as possible, data on patient-related sociodemographic, medical, pain impact and psychologic variables were gathered. A hierarchical regression analysis with four steps was performed to identify patient-related predictors of patients’ communication preferences. Results: FMS patients consider an open and patient-centered communication style to be especially important. Emotionally supportive communication and communication about personal circumstances are important for FMS patients, but the preferences of individual patients vary widely. FMS patients reveal higher values in all the subdimensions of communication preferences compared with patients with low back pain or chronic ischemic heart disease. Only a few variables appear to predict patient communication preferences. The explained variance ranged from 3.1% to 9.7%. Psychologic variables have been identified as predictors in conjunction with all communication preferences. Conclusion: Health care providers who communicate with FMS patients should employ an open and patient

  1. Baraitser–Winter syndrome: An additional Egyptian patient with ...

    African Journals Online (AJOL)

    We report a 3.5 year old male child, second in order of birth of non consanguineous Egyptian parents with Baraitser–Winter syndrome (BRWS). The patient had bilateral colobomas of the iris and choroid. Our patient had also retinal hypoplasia, which was not reported previously in this syndrome, bilateral congenital ptosis, ...

  2. Peters' plus syndrome in an Egyptian patient with some unusual ...

    African Journals Online (AJOL)

    Some of the features reported in Kabuki make-up syndrome were also present in our patient including mainly hepatomegaly and craniosynostosis. However in our patient some features were present not reported before in both syndromes including thick tounge, thick everted lower lip, anteverted naris, broad thumb and big ...

  3. Clinical features of Chinese patients with Fuchs' syndrome

    NARCIS (Netherlands)

    Yang, Peizeng; Fang, Wang; Jin, Haoli; Li, Bing; Chen, Xuan; Kijlstra, Aize

    2006-01-01

    To characterize the clinical features of Chinese patients with Fuchs' syndrome. Retrospective noncomparative case series. One hundred eighteen eyes of 104 consecutive patients with Fuchs' syndrome initially examined between January 1999 and March 2005. The history and clinical findings of all

  4. [Prevalence of metabolic syndrome in elderly patients].

    Science.gov (United States)

    Castro Vilela, María Elena; Quílez Pina, Raquel María; Bonafonte Marteles, José Luis; Morlanes Navarro, Teresa; Calvo Gracia, Fernando

    2014-01-01

    To determine the prevalence of metabolic syndrome (MS) according to the definitions of the National Cholesterol Education Program-Adult Treatment Panel III (NCEP-ATP III) and the International Diabetes Federation (IDF) and its relation to cardiovascular disease (CVD) in hospitalized elderly patients. This descriptive and prospective study (February-March 2011) included 200 consecutive patients hospitalized in a Geriatric Department. Sociodemographic, clinical and biochemical data was collected. The prevalence of MS was 65% (NCEP-ATP III) and 67.5% (IDF) and was greater in women (NCEP-ATP III=72.8%, IDF=73.6%) than in men (NCEP-ATP III=50.7%; IDF=56.3%). The mean age of patients diagnosed with MS by both diagnostic criteria were similar: 84.7 years. MS was not associated with an increased prevalence of CVD. MS is highly prevalent in elderly hospitalized patients, being higher in women, with both diagnostic criteria (NCEP- ATP III and IDF). In our population the MS was not associated with an increased prevalence of CVD. Copyright © 2013 SEGG. Published by Elsevier Espana. All rights reserved.

  5. Adropin Levels in Polycystic Ovary Syndrome Patients

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    Hacer Sen

    2017-01-01

    Full Text Available Aim: Polycystic ovary syndrome (PCOS is one of the most commonly observed endocrinopathies in women of reproductive age. Women with PCOS are said to have increased classic risk factors for cardiovascular disease, hypertension, dyslipidemia, diabetes, and obesity, in addition to non-classic risk factors such as an increase in C-reactive protein (CRP, homocysteine, and tumor necrosis factor-%u03B1. Adropin is a protein thought to play a role in maintaining energy homeostasis and insulin response. The aim of our study is to investigate the relationship between levels of adropin and insulin resistance in PCOS patients with insulin resistance and an increased risk of diabetes.Material and Method: Fifty-seven female patients (30 patients with PCOS and 27 healthy control subjects were enrolled in this study. All patient%u2019s body mass index and insulin resistance were calculated. The adropin levels were measured using commercial kits based on a competitive plasma EIA (enzyme immunoassay method. Results: The adropin levels in the patient group were 10.79 ng/L, while the value was 13.02 ng/L in the control group, and the difference was statistically significant (p=0.04. There was a significant negative correlation between the adropin levels and the insulin, aspartate aminotransferase (AST, triglyseride (TG, and homeostasis model assessment of insulin resistance (HOMA-IR levels (p=0.03, p=0.03, p=0.04, and p=0.02, respectively. Discussion: In our study, the adropin level which is associated with insulin resistance, was found to be decreased in patients with PCOS. We think that it would be valuable to conduct new studies for the evaluation of adropin related clinical conditions leading to insulin resistance in patients with PCOS.

  6. Geriatric syndromes in patients with chronic kidney disease

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    Tomasz Gołębiowski

    2016-06-01

    Full Text Available The recent epidemiologic data pointed out, that the general number of patients on hemodialysis is steadily increasing, especially in group of elderly patients over 75 years old. The geriatric syndromes are a multietiological disorder related to physiological aging and partly associated with comorbid conditions. Frailty, falls, functional decline and disability, cognitive impairment and depression are main geriatric syndromes and occurs in patients with impaired renal function more often than among general population. The causes of higher prevalence of those syndromes are not well known, but uremic environment and overall renal replacement therapy may have an important impact on its progress. The patient with geriatric syndrome require comprehensive treatment as well as physical rehabilitation, psychiatric cure and support in everyday activities.Herein below we would like to review recent literature regarding to particular features of main geriatric syndromes in a group of nephrological patients.

  7. Lupus anticoagulant-hypoprothrombinemia syndrome and catastrophic antiphospholipid syndrome in a patient with antidomain I antibodies.

    Science.gov (United States)

    Galland, Joris; Mohamed, Shirine; Revuz, Sabine; de Maistre, Emmanuel; de Laat, Bas; Marie, Pierre-Yves; Zuily, Stéphane; Lévy, Bruno; Regnault, Véronique; Wahl, Denis

    2016-07-01

    Lupus anticoagulant-hypoprothrombinemia syndrome is a rare condition characterized by the association of acquired factor II deficiency and lupus anticoagulant. Contrary to classical antiphospholipid syndrome, it may cause severe life-threatening bleeding (89% of published cases). We report a patient, positive for antidomain I antibodies, with initially primary lupus anticoagulant-hypoprothrombinemia syndrome without previous clinical manifestation or underlying systemic disease. Five years later, he experienced the first systemic lupus erythematous flare. Within a few days, catastrophic antiphospholipid syndrome was diagnosed with heart, liver and kidney involvement. The patient recovered under pulse steroids, intravenous heparin and intravenous immunoglobulins.

  8. Cardiopulmonary Syndromes (PDQ®)—Patient Version

    Science.gov (United States)

    Expert-reviewed information summary about common conditions that produce chest symptoms. The cardiopulmonary syndromes addressed in this summary are cancer-related dyspnea, malignant pleural effusion, pericardial effusion, and superior vena cava syndrome.

  9. Risk of Hand Syndromes in Patients With Diabetes Mellitus

    Science.gov (United States)

    Chen, Lu-Hsuan; Li, Chung-Yi; Kuo, Li-Chieh; Wang, Liang-Yi; Kuo, Ken N.; Jou, I-Ming; Hou, Wen-Hsuan

    2015-01-01

    Abstract The aim of this study was to assess the overall and cause-specific incidences of diabetic hand syndromes (DHS) in patients with diabetes mellitus (DM) by using age and sex stratifications. The DM and control cohorts comprised 606,152 patients with DM and 609,970 age- and sex-matched subjects, respectively, who were followed up from 2000 to 2008. We estimated the incidence densities (IDs) of overall and cause-specific DHS, namely carpal tunnel syndrome (CTS), stenosing flexor tenosynovitis (SFT), limited joint mobility (LJM), and Dupuytren disease (DD), and calculated the hazard ratios (HRs) of DHS in relation to DM by using a Cox proportional hazards model with adjustment for potential confounders. Over a 9-year period, 51,207 patients with DM (8.45%) and 39,153 matched controls (6.42%) sought ambulatory care visits for various DHS, with an ID of 117.7 and 80.7 per 10,000 person-years, respectively. The highest cause-specific ID was observed for CTS, followed by SFT, LJM, and DD, regardless of the diabetic status. After adjustment for potential confounders, patients with DM had a significantly high HR of overall DHS (1.51, 95% confidence interval [CI] = 1.48–1.53). Men and women aged the highest HR (2.64, 95% CI = 2.15–3.24 and 2.99, 95% CI = 2.55–3.50, respectively). Cause-specific analyses revealed that DM was more strongly associated with SFT (HR = 1.90, 95% CI = 1.86–1.95) and DD (HR = 1.83, 95% CI = 1.39–2.39) than with CTS (HR = 1.31, 95% CI = 1.28–1.34) and LJM (HR = 1.24, 95% CI = 1.13–1.35). Men and younger patients with DM have the highest risk of DHS. Certain hand syndromes, such as SFT and DD, were more strongly associated with DM than with other syndromes and require the attention of clinicians. PMID:26469895

  10. Restless Legs Syndrome in Pediatric Patients With Nephrotic Syndrome

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    Victoria Cheung BA

    2015-05-01

    Full Text Available Background. Restless legs syndrome (RLS is a sleep disorder characterized by an urge to move or the presence of unpleasant sensations in the extremities. The prevalence of RLS is higher in children and adults with chronic kidney disease and in adults with glomerular disease. Objective. To determine the prevalence of RLS in children with nephrotic syndrome. Methods. We studied 50 children with nephrotic syndrome and 22 controls. The following surveys were administered: Pediatric Emory RLS questionnaire, Pediatric Daytime Sleepiness Scale, and Pediatric Sleep Questionnaire. Results. Children with nephrotic syndrome were 9.0 ± 4.4 years old, 27 were male, and 27 were in remission. The prevalence of RLS was similar in the nephrotic syndrome cases and controls, whether or not indeterminate cases were considered positive: 14.0% versus 13.6% including indeterminate cases, and 8.0% versus 9.1% excluding indeterminate cases. Conclusion. RLS is not more common in children with glomerular disease compared to healthy controls.

  11. Restless legs syndrome in patients on dialysis

    International Nuclear Information System (INIS)

    AlJahdali, Hamdan H; AlQadhi, Waleed A; Khogeer, Haithm A; AlHejaili, Fayez F; Al Sayyari, Abdullah A; AlGhamdi, Saeed M

    2009-01-01

    Restless legs syndrome (RLS) is an extremely distressing problem experienced by patients on dialysis; the prevalence appears to be greater than in the general population, with a wide variation from 6.6% to 80%. The diagnosis of RLS is a clinical one, and its definition has been clarified and standardized by internationally recognized diagnostic criteria, published in 1995 by the International Restless Legs Syndrome Study Group (IRLSSG). This study was designed to find out the prevalence of RLS in Saudi patients with end-stage renal disease (ESRD) on maintenance dialysis. This is a cross sectional study carried out between May and Sept 2007 at two centers, King Abdulaziz Medical City-King Fahad National Guard Hospital (KAMC-KFNGH), Riyadh and King Faisal Specialist Hospital and Research Centre (KFHRC), Jeddah, Saudi Arabia. Data were gathered on 227 Saudi patients on chronic maintenance hemodialysis or chronic peritoneal dialysis. The prevalence of RLS was measured using IRLSSG's RLS Questionnaire (RLSQ). Potential risk factors for RLS including other sleep disorders, underlying cause of chronic renal failure, duration on dialysis, dialysis shift, biochemical tests and demographic data were also evaluated. The overall prevalence of RLS was 50.22% including 53.7% males and 46.3% females. Their mean age was 55.7 + - 17.2 years and mean duration on dialysis 40.4 + - 37.8 months. Significant predictors of RLS were history of diabetes mellitus (DM), coffee intake, afternoon dialysis, gender and type of dialysis (P= 0.03, 0.01, < 0.001, 0.05 and 0.009 respectively). Patients with RLS were found to be at increased risk of having insomnia and excessive daytime sleepiness (EDS) (P= < 0.001 and 0.001, respectively). Our study suggests that RLS is a very common problem in dialysis population and was significantly associated with other sleep disorders, particularly insomnia, and EDS. Optimal care of dialysis patient should include particular attention to the diagnosis and

  12. Restless legs syndrome in patients on dialysis

    Directory of Open Access Journals (Sweden)

    Al-Jahdali Hamdan

    2009-01-01

    Full Text Available Restless legs syndrome (RLS is an extremely distressing problem experienced by patients on dialysis; the prevalence appears to be greater than in the general population, with a wide variation from 6.6% to 80%. The diagnosis of RLS is a clinical one, and its definition has been clarified and standardized by internationally recognized diagnostic criteria, published in 1995 by the International Restless Legs Syndrome Study Group (IRLSSG. This study was designed to find out the prevalence of RLS in Saudi patients with end-stage renal disease (ESRD on maintenance dialysis. This is a cross sectional study carried out between May and Sept 2007 at two centers, King Abdulaziz Medical City-King Fahad National Guard Hospital (KAMC-KFNGH, Riyadh and King Faisal Specialist Hospital and Research Centre (KFHRC, Jeddah, Saudi Arabia. Data were gathered on 227 Saudi patients on chronic maintenance hemodialysis or chronic peritoneal dialysis. The prevalence of RLS was measured using IRLSSG′s RLS Questionnaire (RLSQ. Potential risk factors for RLS including other sleep disorders, underlying cause of chronic renal failure, duration on dialysis, dialysis shift, biochemical tests and demographic data were also evaluated. The overall prevalence of RLS was 50.22% including 53.7% males and 46.3% females. Their mean age was 55.7 ± 17.2 years and mean duration on dialysis 40.4 ± 37.8 months. Significant predictors of RLS were history of diabetes mellitus (DM, coffee intake, afternoon dialysis, gender and type of dialysis (P= 0.03, 0.01, < 0.001, 0.05 and 0.009 respectively. Patients with RLS were found to be at increased risk of having insomnia and excessive daytime sleepiness (EDS (P= < 0.001 and 0.001, respectively. Our study suggests that RLS is a very common problem in dialysis population and was significantly associated with other sleep disorders, particularly insomnia, and EDS. Optimal care of dialysis patient should include particular attention to the diagnosis

  13. Metabolomic Biomarkers in Urine of Cushing’s Syndrome Patients

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    Alicja Kotłowska

    2017-01-01

    Full Text Available Cushing’s syndrome (CS is a disease which results from excessive levels of cortisol in the human body. The disorder is associated with various signs and symptoms which are also common for the general population not suffering from compound hypersecretion. Thus, more sensitive and selective methods are required for the diagnosis of CS. This follow-up study was conducted to determine which steroid metabolites could serve as potential indicators of CS and possible subclinical hypercortisolism in patients diagnosed with so called non-functioning adrenal incidentalomas (AIs. Urine samples from negative controls (n = 37, patients with CS characterized by hypercortisolism and excluding iatrogenic CS (n = 16, and patients with non-functioning AIs with possible subclinical Cushing’s syndrome (n = 25 were analyzed using gas chromatography-mass spectrometry (GC/MS and gas chromatograph equipped with flame ionization detector (GC/FID. Statistical and multivariate methods were applied to investigate the profile differences between examined individuals. The analyses revealed hormonal differences between patients with CS and the rest of examined individuals. The concentrations of selected metabolites of cortisol, androgens, and pregnenetriol were elevated whereas the levels of tetrahydrocortisone were decreased for CS when opposed to the rest of the study population. Moreover, after analysis of potential confounding factors, it was also possible to distinguish six steroid hormones which discriminated CS patients from other study subjects. The obtained discriminant functions enabled classification of CS patients and AI group characterized by mild hypersecretion of cortisol metabolites. It can be concluded that steroid hormones selected by applying urinary profiling may serve the role of potential biomarkers of CS and can aid in its early diagnosis.

  14. Metabolomic Biomarkers in Urine of Cushing's Syndrome Patients.

    Science.gov (United States)

    Kotłowska, Alicja; Puzyn, Tomasz; Sworczak, Krzysztof; Stepnowski, Piotr; Szefer, Piotr

    2017-01-29

    Cushing's syndrome (CS) is a disease which results from excessive levels of cortisol in the human body. The disorder is associated with various signs and symptoms which are also common for the general population not suffering from compound hypersecretion. Thus, more sensitive and selective methods are required for the diagnosis of CS. This follow-up study was conducted to determine which steroid metabolites could serve as potential indicators of CS and possible subclinical hypercortisolism in patients diagnosed with so called non-functioning adrenal incidentalomas (AIs). Urine samples from negative controls ( n = 37), patients with CS characterized by hypercortisolism and excluding iatrogenic CS ( n = 16), and patients with non-functioning AIs with possible subclinical Cushing's syndrome ( n = 25) were analyzed using gas chromatography-mass spectrometry (GC/MS) and gas chromatograph equipped with flame ionization detector (GC/FID). Statistical and multivariate methods were applied to investigate the profile differences between examined individuals. The analyses revealed hormonal differences between patients with CS and the rest of examined individuals. The concentrations of selected metabolites of cortisol, androgens, and pregnenetriol were elevated whereas the levels of tetrahydrocortisone were decreased for CS when opposed to the rest of the study population. Moreover, after analysis of potential confounding factors, it was also possible to distinguish six steroid hormones which discriminated CS patients from other study subjects. The obtained discriminant functions enabled classification of CS patients and AI group characterized by mild hypersecretion of cortisol metabolites. It can be concluded that steroid hormones selected by applying urinary profiling may serve the role of potential biomarkers of CS and can aid in its early diagnosis.

  15. Metabolomic Biomarkers in Urine of Cushing’s Syndrome Patients

    Science.gov (United States)

    Kotłowska, Alicja; Puzyn, Tomasz; Sworczak, Krzysztof; Stepnowski, Piotr; Szefer, Piotr

    2017-01-01

    Cushing’s syndrome (CS) is a disease which results from excessive levels of cortisol in the human body. The disorder is associated with various signs and symptoms which are also common for the general population not suffering from compound hypersecretion. Thus, more sensitive and selective methods are required for the diagnosis of CS. This follow-up study was conducted to determine which steroid metabolites could serve as potential indicators of CS and possible subclinical hypercortisolism in patients diagnosed with so called non-functioning adrenal incidentalomas (AIs). Urine samples from negative controls (n = 37), patients with CS characterized by hypercortisolism and excluding iatrogenic CS (n = 16), and patients with non-functioning AIs with possible subclinical Cushing’s syndrome (n = 25) were analyzed using gas chromatography-mass spectrometry (GC/MS) and gas chromatograph equipped with flame ionization detector (GC/FID). Statistical and multivariate methods were applied to investigate the profile differences between examined individuals. The analyses revealed hormonal differences between patients with CS and the rest of examined individuals. The concentrations of selected metabolites of cortisol, androgens, and pregnenetriol were elevated whereas the levels of tetrahydrocortisone were decreased for CS when opposed to the rest of the study population. Moreover, after analysis of potential confounding factors, it was also possible to distinguish six steroid hormones which discriminated CS patients from other study subjects. The obtained discriminant functions enabled classification of CS patients and AI group characterized by mild hypersecretion of cortisol metabolites. It can be concluded that steroid hormones selected by applying urinary profiling may serve the role of potential biomarkers of CS and can aid in its early diagnosis. PMID:28146078

  16. Renal transplantation in a patient with Bartter syndrome and glomerulosclerosis

    Directory of Open Access Journals (Sweden)

    Se Eun Lee

    2011-01-01

    Full Text Available Bartter syndrome (BS is a clinically and genetically heterogeneous inherited renal tube disorder characterized by renal salt wasting, hypokalemic metabolic alkalosis and normotensive hyperreninemic hyperaldosteronism. There have been several case reports of BS complicated by focal segmental glomerulosclerosis (FSGS. Here, we have reported the case of a BS patient who developed FSGS and subsequent end-stage renal disease (ESRD and provided a brief literature review. The patient presented with classic BS at 3 months of age and developed proteinuria at 7 years. Renal biopsy performed at 11 years of age revealed a FSGS perihilar variant. Hemodialysis was initiated at 11 years of age, and kidney transplantation was performed at 16 years of age. The post-transplantation course has been uneventful for more than 3 years with complete disappearance of BS without the recurrence of FSGS. Genetic study revealed a homozygous p.Trp(TGG610Stop(TGA mutation in the CLCNKB gene. In summary, BS may be complicated by secondary FSGS due to the adaptive response to chronic salt-losing nephropathy, and FSGS may progress to ESRD in some patients. Renal transplantation in patients with BS and ESRD results in complete remission of BS.

  17. Gender differences in patients with obesity hypoventilation syndrome.

    Science.gov (United States)

    BaHammam, Ahmed S; Pandi-Perumal, Seithikurippu R; Piper, Amanda; Bahammam, Salman A; Almeneessier, Aljohara S; Olaish, Awad H; Javaheri, Shahrokh

    2016-08-01

    The role of gender and menopause in obstructive sleep apnoea is well known; however, no study has reported the impact of gender on the clinical presentation and the nocturnal respiratory events in patients with obesity hypoventilation syndrome. Therefore, this study prospectively evaluated differences in the clinical characteristics of women and men with obesity hypoventilation syndrome in a large cohort of patients with obstructive sleep apnoea. During the study period, a total of 1973 patients were referred to the sleep clinic with clinical suspicion of obstructive sleep apnoea. All patients underwent overnight polysomnography, during which time spirometry, arterial blood samples and thyroid tests were routinely obtained. Among 1973 consecutive patients, 1693 (617 women) were diagnosed with obstructive sleep apnoea, among whom 144 suffered from obesity hypoventilation syndrome (96 women). The prevalence of obesity hypoventilation syndrome among women and men was 15.6% and 4.5%, respectively (P obesity hypoventilation syndrome were significantly older than men with obesity hypoventilation syndrome (61.5 ± 11.9 years versus 49.1 ± 12.5 years, P differences between genders regarding symptoms, body mass index, spirometric data or daytime PaCO2 , women with obesity hypoventilation syndrome suffered significantly more from hypertension, diabetes and hypothyroidism. The prevalence of obesity hypoventilation syndrome was higher in post-menopausal (21%) compared with pre-menopausal (5.3%) women (P obesity hypoventilation syndrome. In conclusion, this study reported that among subjects referred to the sleep disorders clinic for evaluation of obstructive sleep apnoea, obesity hypoventilation syndrome is more prevalent in women than men, and that women with obesity hypoventilation syndrome suffer from significantly more co-morbidities. Post-menopausal women with obstructive sleep apnoea have the highest prevalence of obesity hypoventilation syndrome. © 2016

  18. Research advances in traditional Chinese medicine syndromes in cancer patients.

    Science.gov (United States)

    Ji, Qing; Luo, Yun-quan; Wang, Wen-hai; Liu, Xuan; Li, Qi; Su, Shi-bing

    2016-01-01

    Traditional Chinese medicine (TCM) syndrome, also known as TCM ZHENG or TCM pattern, is an integral and essential part of TCM theory that helps to guide the design of individualized treatments. A TCM syndrome, in essence, is a characteristic profile of all clinical manifestations in one patient that can be readily identified by a TCM practitioner. In this article, the authors reviewed the presentations of TCM syndromes in seven common malignancies (liver, lung, gastric, breast, colorectal, pancreatic and esophageal cancers), the objectivity and the standardization of TCM syndrome differentiation, the evaluation of TCM syndrome modeling in cancer research, and syndrome differentiation-guided TCM treatment of cancers. A better understanding of TCM syndrome theory, as well as its potential biological basis, may contribute greatly to the clinical TCM diagnosis and the treatment of cancer.

  19. Femur Neck Fracture in a Young Marfan Syndrome Patient.

    Science.gov (United States)

    Kwon, Yong-Uk; Kong, Gyu-Min; Park, Jun-Ho

    2016-12-01

    Marfan syndrome is an autosomal dominant and could decrease bone mineral density. So patients with Marfan syndrome could vulnerable to trauma in old ages. We present the first report, to the best of our knowledge, of a rare fracture of the femoral neck with a minor traumatic history in a juvenile Marfan syndrome patient whose physis is still open. Although the patient is young, her bone mineral density was low and the geometry of femur is changed like old ages. The femur neck fracture in children is very rare and only caused by high energy trauma, we concluded that the Marfan syndrome makes the bone weaker in young age and preventative medications to avoid fractures in younger Marfan syndrome patients are necessary in early ages.

  20. Cryoglobulinemic vasculitis in a patient with CREST syndrome.

    Science.gov (United States)

    Hurst, Rebecca L; Berianu, Florentina; Ginsburg, William W; Klein, Christopher J; Englestad, Janean K; Kennelly, Kathleen D

    2014-10-01

    Cryoglobulinemic vasculitis is a rare entity. Although it has been reported in diffuse systemic sclerosis, it has not been reported in calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia (CREST) syndrome. We report a patient with cryoglobulinemic vasculitis with CREST syndrome who did not have typical clinical features of vasculitis. This 58-year-old woman presented with mild generalized weakness and a diagnosis of CREST syndrome, which included Raynaud's syndrome, dysphagia and telangiectasias. She was positive for serum cryoglobulins, which led to a sural nerve biopsy. The biopsy results were consistent with cryoglobulinemic vasculitis. Cryoglobulinemic vasculitis has not been previously reported in CREST syndrome to our knowledge. Additionally, the patient also had limited clinical symptoms. Our patient displays the importance of checking for cryoglobulins and obtaining a nerve biopsy when the serum is positive. Both of these diagnostic tests were integral for directing appropriate treatment for this patient. Copyright © 2014 Elsevier Ltd. All rights reserved.

  1. [Patient with testosterone deficit syndrome and dyslipemia].

    Science.gov (United States)

    Sola Galarza, Ignacio; López López, Borja; Llorente Abarca, Carlos

    2013-09-01

    We define dyslipemia as the abnormally elevated presence of lipids in the blood. The main ones are hypercholesterolemia (cholesterol over 240 mg/dl), hypertrigliceridemia (triglicerides level over 200 mg/dl) and hipo-alphalipoproteinemia (High density lipoproteins,also called HDL Cholesterol, below 40 mg/dl). The presence of excessive lipids contributes to arteriosclerosis and they are an independent cardiovascular risk factor. It may be primary, if they have genetic origin and they are not associated with other diseases, but in most cases they are secondary to other pathological entities such as diabetes, hypothyroidism, obesity and metabolic syndrome (MS). In our current society, sedentary lifestyle and unadequatelly hypercaloric diets are making obesity and MS prevalences grow, and their relation to dyslipemias has become tighter. Obesity is related with all the criteria for MS. But obesity is not at all synonymous of MS. On the one hand neither fat distribution is the same in all individualas nor confers the same risk. Accordingly, we know that abdominal localization of fat is related to higher intensity of insulin resistance (IR) and MS. On the other hand, it seems that certain components of MS are determined by genetic factors, since there are morbid obese persons that are metabolically healthy and other patients develop insulin resistance without obesity. So that, it seems that the excess in visceral adiposity in the presence of certain genetic factors would be the most related cause of the appearance of peripheral insulin resistance and diabetes mellitus, hyperlipidemia (increase of very low density pipoproteins (VLDL), decrease of highdensity lipoproteins (HDL) arterial hypertension, and hypogonadotropic hypogonadism, composing what we call metabolic syndrome. In this scenario, we urologists are being first-hand witnesses.On the one hand, and in relation with cardiovascular risk factors, we know that all of them, and independently,not only can produce

  2. Magnetic resonance angiography in 12 patients with Wallenberg's syndrome

    International Nuclear Information System (INIS)

    Watanabe, Masaki; Takahashi, Akira; Hashizume, Yoshio; Motegi, Yoshimasa; Furuse, Masahiro.

    1992-01-01

    Magnetic resonance angiography (MRA) was performed in 12 patients with Wallenberg's syndrome (WS) in chronic stage to investigate the lesion of the vertebral artery (VA). The laterality of infarction in the medulla oblongata was confirmed with MRI; the right in four patients and the left in eight. In this study, time-of-flight MRA was evaluated. Coronal and OM sections in MRA were examined, because the former is useful to observe asymmetry and curve of the cervical VA, and the latter is useful to observe asymmetry and stenosis of the intracranial VA. In nine out of 12 patients, the ipsilateral VA was rather hypoplastic compared to the contralateral VA, and the flow of the hypoplastic VA stopped before and after entering the intracranial region. The contralateral VA of the hypoplastic cases showed curve in the neck in five patients and stenosis in the intracranial portion in one patient. A comparative study was conducted between vertebral angiogram (VAG) and MRA in four patients. Both VAG and MRA were useful in detecting hypoplasia and stoppage of the flow. It was considered that VA hypoplasia is frequently responsible for WS, and that MRA is useful in screening the vascular lesion as a non-invasive procedure to reveal changes of the bilateral VA. (author)

  3. Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events

    NARCIS (Netherlands)

    Armour, Christine M.; Smith, Amanda; Hartley, Taila; Chardon, Jodi Warman; Sawyer, Sarah; Schwartzentruber, Jeremy; Hennekam, Raoul; Majewski, Jacek; Bulman, Dennis E.; Suri, Mohnish; Boycott, Kym M.

    2016-01-01

    In 1987 Fitzsimmons and Guilbert described identical male twins with progressive spastic paraplegia, brachydactyly with cone shaped epiphyses, short stature, dysarthria, and "low-normal" intelligence. In subsequent years, four other patients, including one set of female identical twins, a single

  4. Dialysis Disequilibrium Syndrome-Induced Cerebral Edema in a Patient with Uremia Following Hemodialysis: A Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jung Min; Kim, Heung Cheol [Dept. of Radiology, Chuncheon Sacred Heart Hospital, Hallym University College of Medicine, Chuncheon (Korea, Republic of)

    2012-03-15

    Dialysis disequilibrium syndrome is a metabolic complication that can be caused by rapid removal of plasma urea during hemodialysis. Dialysis disequilibrium syndrome can lead to osmotic demyelinating syndrome. This case report describes one case of encephalopathy accompanied by dialysis disequilibrium syndrome with imaging findings acquired immediately after hemodialysis in a 55-year-old woman with chronic renal failure. The patient was observed to present repetitive seizures and sudden deterioration of consciousness immediately after hemodialysis. Shortly after the onset of symptoms, the patient underwent a CT scan. The imaging findings of the CT scan reveal symmetrical diffuse white matter edema of bilateral cerebral hemispheres that extends to the pons along the internal capsule. A follow-up MRI taken two years later shows that reversible changes without damage have occurred in the lesions. The patient can thus be seen to present symptoms characteristically associated with dialysis disequilibrium syndrome, while brain imaging reveals dif-fuse reversible brain edema.

  5. Dialysis Disequilibrium Syndrome-Induced Cerebral Edema in a Patient with Uremia Following Hemodialysis: A Case Report

    International Nuclear Information System (INIS)

    Kim, Jung Min; Kim, Heung Cheol

    2012-01-01

    Dialysis disequilibrium syndrome is a metabolic complication that can be caused by rapid removal of plasma urea during hemodialysis. Dialysis disequilibrium syndrome can lead to osmotic demyelinating syndrome. This case report describes one case of encephalopathy accompanied by dialysis disequilibrium syndrome with imaging findings acquired immediately after hemodialysis in a 55-year-old woman with chronic renal failure. The patient was observed to present repetitive seizures and sudden deterioration of consciousness immediately after hemodialysis. Shortly after the onset of symptoms, the patient underwent a CT scan. The imaging findings of the CT scan reveal symmetrical diffuse white matter edema of bilateral cerebral hemispheres that extends to the pons along the internal capsule. A follow-up MRI taken two years later shows that reversible changes without damage have occurred in the lesions. The patient can thus be seen to present symptoms characteristically associated with dialysis disequilibrium syndrome, while brain imaging reveals dif-fuse reversible brain edema.

  6. The Bentall procedure in patients with Marfan's syndrome.

    Science.gov (United States)

    Nguyen, K H; Ergin, M A; Galla, J D; Lansman, S L; McCullough, J N; Griepp, R B

    1997-01-01

    From 1985 to 1996, 18 patients with Marfan's syndrome underwent the Bentall procedure at Mount Sinai Hospital. They are compared with 38 patients aged Marfan's syndrome who also underwent composite valve-graft replacement of the ascending aorta. The mean age of the non-Marfan group was 33 while that of the Marfan group was 29. Nearly three-quarters of each group were male. Aortic dissection was present in 33% of the Marfan group but only in 18% of the other group. Seventy-eight percent of the Marfan patients and 89% of the non-Marfan patients had aortic regurgitation. Twenty-one percent of the patients in the control group nevertheless had gross aortic pathology suggestive of Marfan's syndrome and may have had variants of the syndrome; 26% of the non-Marfan group had a bicuspid aortic valve. A modification of the Bentall procedure with implantation of coronary artery buttons was performed in the majority of the patients in both groups. Three patients, all in the group with Marfan's syndrome, required a concomitant mitral valve procedure. There was one death in each group. Two non-Marfan patients required reoperation; neither had dissection. Four patients with Marfan's syndrome underwent reoperation for distal disease in the aorta; they comprised one third of the Marfan patients who had aortic dissection. Three late complications occurred in the group with Marfan's syndrome: progressive cardiomyopathy; myocardial infarction; and late tamponade. There were also two late sudden deaths in the group with Marfan's syndrome, which may have been the consequence of aortic rupture. No difference in immediate operative mortality following the Bentall procedure was noted between patients with and without Marfan's syndrome, but young patients without Marfan's syndrome seem to have better event-free and long-term survival. In patients with Marfan's syndrome, the presence of acute dissection makes reoperation more likely, and sudden death from rupture still occurs despite careful

  7. [Case report : usefulness of the airwayscope for difficult intubations in a pediatric patients with Coffin-Siris syndrome].

    Science.gov (United States)

    Sakugawa, Yoko; Kamizato, Kota; Miyata, Yuji; Kakinohana, Manabu; Sugahara, Kazuhiro

    2013-05-01

    We experienced management of general anesthesia in a patients with Coffin-Siris syndrome (CS syndrome) which is an autosomal dominant disorder characterized by mental retardation, growth failure, hypoplasia of the fifth finger's distal phalanx and limb, and syndrome-specific facial appearance. Anesthesia was induced by sevoflurane by mask. After obtaining muscle relaxation by rocuronium, laryngoscopy by Machintosh #2 failed to reveal the vocal cord. However, the vocal cord was revealed by AirwayScope (AWS) for the pediatrics and then tracheal intubation was successful. Surgical procedures and anes-thetic management were performed uneventfully. This case demonstrates usefulness of AWS in pediatric patients with difficult intubation.

  8. Report of a case with 19 supernumerary teeth in a non-syndromic patient.

    Science.gov (United States)

    Yan, Lei; Yu, Long Wang; Bhandari, Kishor; Shan, Chang Li

    2014-04-01

    Supernumerary teeth occur frequently in human dentition, but presence of multiple supernumerary teeth in patients without any associated syndrome or systemic disorder is a rare phenomenon. Presence of supernumerary teeth in itself is not a problem and may not require removal in all cases but in certain conditions, they may be associated with several clinical complications and require removal. Here, we present a 14 year old female who complained of non emergence of permanent teeth. Orthopantomogram initially showed presence of fifteen impacted supernumerary teeth distributed in all quadrants, but later, cone-beam computed tomography further revealed four additional teeth, totaling to nineteen supernumerary teeth. Consultation with concerned specialists ruled out any syndromes or systemic disorders which led us to the diagnosis of "non-syndromic multiple supernumerary teeth" and this probably is the highest number of supernumerary teeth reported in a single non-syndromic patient till date.

  9. [Relations of regulatory polypeptide and syndrome differentiation of traditional Chinese medicine of angina pectoris patients].

    Science.gov (United States)

    Huang, H Y; Zhu, W F; Li, B X

    1996-08-01

    Ninety cases of angina pectoris patients with the Deficiency of Heart Qi Syndrome (DHQS), Deficiency of Heart-Yin Syndrome (DHYS) and blood stasis in Heart vessels Syndrome (BSHVS) were studied. The number of patients were 30 for each group. Their regulatory polypeptides:atrial natri-uretic polypeptide (ANP), beta-Endorphine (beta-EP), Endothelin (ET), Angiotensin (A-II) were tested. Results showed that in comparing with normal level, P BSHVS > normal group > DHYS. ET and A-II of them: DHYS > BSHVS > normal group > DHQS. And the comparison between groups revealed that P < 0.05 or < 0.01. So ANP, beta-EP, ET and A-II were the principal material basis, and they could be the specific objective parameters of the Syndrome Differentiation.

  10. Relation between Hormonal Disorders and Components of Metabolic Syndrome in Patients with Primary Hypothyroidism

    Directory of Open Access Journals (Sweden)

    Т.Yu. Yuzvenko

    2016-09-01

    Full Text Available During the last decade plenty of the researches dedicated to the problem of hypothyroidism were published, that radically changed views to the value of thyroid pathology on the whole. Neurohumoral changes are considered as a nosotropic factor of hypothyroidism development in persons with metabolic syndrome (MS. Aim of the research is to study the features of hormonal disorders and their correlation with the components of metabolic syndrome in patients with primary hypothyroidism. Materials and methods. The study involved 80 patients with primary hypothyroidism: 61 had metabolic syndrome and 19 did not have metabolic syndrome. Results. Statistically significant increased levels of leptin, insulin, cortisol, C-peptide were revealed in patients with hypothyroidism and metabolic syndrome while the most marked changes were found in patients with multiple metabolic abnormalities. Conclusions. The interrelations between hyperleptinemia and fasting glucose, glycated hemoglobin, insulin levels, thyroid-stimulating hormone, index HOMA were determined indicating the modulating role of chronic hyperglycemia, hormonal disorders and insulin resistance in the expression and realization of the biological action of leptin in patients with hypothyroidism and metabolic syndrome.

  11. Postpartum thrombotic microangiopathy revealed as atypical hemolytic uremic syndrome successfully treated with eculizumab: a case report.

    Science.gov (United States)

    Kourouklaris, Andreas; Ioannou, Kyriakos; Athanasiou, Ioannis; Panagidou, Alexia; Demetriou, Kiproulla; Zavros, Michalis

    2014-09-14

    Differential diagnosis of thrombotic microangiopathies can be difficult. Atypical hemolytic uremic syndrome is a rare, life-threatening disease caused by uncontrolled chronic activation of alternative complement pathway, resulting in microvascular thrombosis, organ ischemia and damage. Prognosis is poor: up to 65 percent of patients require dialysis or have kidney damage of varying severity or die despite plasma exchange/plasma infusion treatment. We describe the case of a 23-year-old woman of Hellenic origin who, after a preeclampsia-induced premature delivery, developed thrombotic microangiopathy with renal failure, tonicoclonic seizures, anasarca edema and hypertension. Intensive plasma exchange was initiated twice daily, in parallel to dialysis for one month. Three months later, our patient was discharged with nondialysis-dependent renal failure and without signs of hemolysis. Three months after discharge our patient was readmitted with cardiomyopathy (left ventricular ejection fraction of 25 percent) and signs and symptoms of thrombotic microangiopathy. Our patient was diagnosed with atypical hemolytic uremic syndrome and was started on eculizumab (a complement inhibitor), which improved clinical and laboratory parameters. However, a transient pause in treatment resulted in thrombotic microangiopathy relapse, which was rapidly blocked with reintroduction of eculizumab treatment. During long-term eculizumab treatment, thrombotic microangiopathy manifestations were inhibited and renal and cardiac function restored, with no need for other invasive treatments. Establishing the diagnosis of atypical hemolytic uremic syndrome in patients presenting with thrombotic microangiopathy is challenging since common symptoms are shared with other conditions like Shiga toxin-producing Escherichia coli hemolytic uremic syndrome and thrombotic thrombocytopenic purpura. The described case illustrates the complexity and importance of rapid diagnosis in a rare disease and the need

  12. Metabolic syndrome in patients with prostate cancer

    Directory of Open Access Journals (Sweden)

    Iúri Amorim de Santana

    Full Text Available CONTEXT AND OBJECTIVE: Prostate cancer (PCa is the second most common cancer among men in Brazil. Recently, several studies have hypothesized a relationship between PCa and metabolic syndrome (MS. The aim here was to identify an association between MS and PCa. DESIGN AND SETTING: Cross-sectional study, Fundação de Beneficência Hospital de Cirurgia (FBHC and Universidade Federal de Sergipe. METHODS: Laboratory and anthropometric parameters were compared between PCa patients (n = 16 and controls (n = 16. RESULTS: The PCa patients showed significantly greater frequency of MS than did the controls (p = 0.034. Serum glucose was higher and high-density lipoprotein-cholesterol was lower than in the controls, although without significant differences. There were significant differences in blood pressure (p = 0.029 and waist-to-hip ratio (p = 0.004. Pearson linear correlation showed a positive association between waist-to-hip ratio and prostate specific antigen (r = 0.584 and p = 0.028. Comparing subgroups with and without MS among the PCa patients, significant differences (p < 0.05 in weight, height, body mass index, hip circumference and lean body mass were observed, thus showing higher central obesity in those with MS. The serum glucose values were also higher in MS patients (p = 0.006, thus demonstrating that insulin resistance has a role in MS physiopathology. CONCLUSIONS: Our study suggests that MS may exert an influence on the development of PCa. However, it would be necessary to expand the investigation field with larger sample sizes and cohorts studied, to test the hypothesis generated in this study.

  13. Development of West syndrome in a patient with Reye syndrome: a case study.

    Science.gov (United States)

    Garcia de Alba, G O; Gamboa Marrufo, J D; Valencia Mayoral, P; Delgadillo, J F

    1989-04-01

    We report the case of a 3 month old female with a diagnosis of Reye Syndrome, confirmed with laboratory exams. Three months after apparently recovering from the acute clinical picture, the patient developed massive spasms and psychomotor delay with an EEG tracing typical of hypsarrythmia, the classic triade which suggests West Syndrome.

  14. Primary headaches in restless legs syndrome patients

    Directory of Open Access Journals (Sweden)

    Ravi Gupta

    2012-01-01

    Full Text Available Earlier studies conducted among migraineurs have shown an association between migraine and restless legs syndrome (RLS. We chose RLS patients and looked for migraine to exclude sample bias. Materials and Methods: 99 consecutive subjects of idiopathic RLS were recruited from the sleep clinic during four months period. Physician diagnosis of headache and depressive disorder was made with the help of ICHD-2 and DSM-IV-TR criteria, respectively. Sleep history was gathered. Severity of RLS and insomnia was measured using IRLS (Hindi version and insomnia severity index Hindi version, respectively. Chi-square test, one way ANOVA and t-test were applied to find out the significance. Results: Primary headache was seen in 51.5% cases of RLS. Migraine was reported by 44.4% subjects and other types of ′primary headaches′ were reported by 7.1% subjects. Subjects were divided into- RLS; RLS with migraine and RLS with other headache. Females outnumbered in migraine subgroup (χ2 =16.46, P<0.001. Prevalence of depression (χ2 =3.12, P=0.21 and family history of RLS (χ2 =2.65, P=0.26 were not different among groups. Severity of RLS (P=0.22 or insomnia (P=0.43 were also similar. Conclusion: Migraine is frequently found in RLS patients in clinic based samples. Females with RLS are prone to develop migraine. Depression and severity of RLS or insomnia do not affect development of headache.

  15. Simultaneous Bilateral Spontaneous Pneumothorax Revealed Birt-Hogg-Dubè Syndrome

    Directory of Open Access Journals (Sweden)

    Alessandro Tamburrini

    2015-01-01

    Full Text Available Simultaneous bilateral spontaneous pneumothorax is a very rare clinical event, comprising approximately 1% of all spontaneous pneumothoraces. Clinical signs and symptoms may vary from mild chest pain and dyspnea to severe respiratory failure; nevertheless immediate treatment is mandatory as this condition can deteriorate and progress to tension pneumothorax. An underlying lung disease has been commonly described; in most istances primary or secondary tumors, interstitial diseases, and infectious diseases. Birt-Hogg-Dubè syndrome is a rare inherited disorder clinically characterized by multiple fibrofolliculomas, renal tumors, lung cysts, and, in ~24% of the patients, occurrence of spontaneous pneumothorax. In this case, we firstly report the concurrence of these rare conditions, as a patient presenting a simultaneous bilateral spontaneous pneumothorax was diagnosed with Birt-Hogg-Dubè syndrome based on the typical radiological findings and genetic testing of the folliculin gene located on chromosome 17.

  16. Abdominal Aortic Dissection with Acute Mesenteric Ischemia in a Patient with Marfan Syndrome

    Directory of Open Access Journals (Sweden)

    Chii-Shyan Lay

    2006-07-01

    Full Text Available Marfan syndrome is an autosomal dominant inherited disorder of connective tissue, with various complications manifested primarily in the cardiovascular system. It potentially leads to aortic dissection and rupture, these being the major causes of death. We report a patient who complained of acute abdominal pain, which presented as acute mesenteric ischemia combined with abdominal aortic dissection. Echocardiography showed enlargement of the aortic root and mitral valve prolapse. Abdominal computed tomography scan revealed acute mesenteric ischemia due to abdominal aortic dissection. Finally, the patient underwent surgery of aortic root replacement and had a successful outcome. Therefore, we suggest that for optimal risk assessment and monitoring of patients with Marfan syndrome, both aortic stiffness and the diameter of the superior mesenteric vein compared with that of the superior mesenteric artery are useful screening methods to detect acute mesenteric ischemia secondary to abdominal aortic dissection. Early diagnosis and early treatment can decrease the high mortality rate of patients with Marfan syndrome.

  17. Metabolic syndrome: prevalence and risk factors in Korean gout patients.

    Science.gov (United States)

    Jung, Jae Hyun; Song, Gwan Gyu; Ji, Jong Dae; Lee, Young Ho; Kim, Jae-Hoon; Seo, Young Ho; Choi, Sung Jae

    2016-10-12

    We performed this study to investigate associations between metabolic syndrome, chronic kidney disease (CKD), and gout. We reviewed the medical records of 151 patients with gout at the Department of Rheumatology in Korea University Ansan Hospital. The following measures were examined: waist circumference, blood pressure, alcohol consumption, and levels of triglyceride, high density lipoprotein cholesterol, fasting serum glucose, serum uric acid (SUA), creatinine, insulin, and C-peptide. We assessed metabolic syndrome by the homeostasis model assessment of insulin resistance (HOMA-IR) index and renal function by the Modification of Diet in Renal Disease equation; patients were classified according to World Health Organization Asia-Pacific obesity criteria. The prevalence of metabolic syndrome in gout patients (50.8%) was higher than in non-gout patients. The mean SUA level was significantly higher in gout patients with metabolic syndrome (9.13 ± 3.15 mg/dL) than in gout patients without metabolic syndrome (8.14 ± 2.07 mg/dL). The mean SUA level was also significantly higher in patients with gout and CKD (9.55 ± 2.86 mg/dL) than in patients with gout but no CKD (7.74 ± 2.27 mg/dL). In gout patients, HOMA-IR was positively correlated with waist circumference (r = 0.409, p = 0.001). The prevalence of metabolic syndrome in patients with gout was 50.8%, which is higher than the prevalence in the general Korean population. Hyperuricemia in gout patients was correlated with metabolic syndrome and CKD. Insulin resistance may provide clues to better understand the relationship between metabolic syndrome, CKD, and gout.

  18. Rivaroxaban in patients with a recent acute coronary syndrome

    DEFF Research Database (Denmark)

    Mega, Jessica L; Braunwald, Eugene; Wiviott, Stephen D

    2012-01-01

    Acute coronary syndromes arise from coronary atherosclerosis with superimposed thrombosis. Since factor Xa plays a central role in thrombosis, the inhibition of factor Xa with low-dose rivaroxaban might improve cardiovascular outcomes in patients with a recent acute coronary syndrome....

  19. Anaesthetic management of a patient with sick sinus syndrome for ...

    African Journals Online (AJOL)

    Anaesthetic management of a patient with sick sinus syndrome for exploratory laparotomy. S Alex, JP Saneesh, R Rao, M Upadya. Abstract. Sick sinus syndrome is a generalised abnormality of cardiac impulse formation that may be caused either by an intrinsic disease of the sinus node, which makes it unable to perform its ...

  20. Baraitser–Winter syndrome: An additional Arab patient | Henedy ...

    African Journals Online (AJOL)

    Baraitser–Winter syndrome: An additional Arab patient. MMA Henedy, MJ Marafie, SJ Abulhasan. Abstract. An Arab child is presented herein with a phenotype that fits the rare Baraitser–Winter syndrome. Her clinical features included a unilateral iris coloboma, ptosis, hypertelorism, epicanthic folds, broad nasal bridge, full ...

  1. Steven Johnson syndrome in a patient with Cushing's disease.

    Science.gov (United States)

    Mustafa, N; Periyasamy, P; Kamaruddin, N

    2009-09-01

    Cushing's syndrome is a pathological condition associated with excessive cortisol production, the commonest etiology being Cushing's disease. Corticosteroids in high doses have been used in the management of Steven Johnson Syndrome (SJS) with favourable outcome. We describe a patient with Cushing's disease who developed SJS, one week after taking sperulina a product from sea-weed while waiting for transphenoidal surgery.

  2. Alcohol withdrawal syndrome: current management strategies for the surgery patient.

    Science.gov (United States)

    Morris, P R; Mosby, E L; Ferguson, B L

    1997-12-01

    As advances in the therapeutic management of alcohol withdrawal syndrome occur, oral and maxillofacial surgeons should be aware of the current treatment philosophies and modalities. This article provides a comprehensive review of alcohol withdrawal syndrome and presents some of the current management strategies that can be used for these patients, whether it be in the office or in the hospital.

  3. Progression of salivary gland dysfunction in patients with Sjogren's syndrome

    NARCIS (Netherlands)

    Pijpe, J.; Kalk, W. W. I.; Bootsma, H.; Spijkervet, F. K. L.; Kallenberg, C. G. M.; Vissink, A.

    Background: Salivary gland dysfunction is one of the key manifestations of Sjogren's syndrome. Objectives: (1) To assess prospectively loss of function of individual salivary glands in patients with primary and secondary Sjogren's syndrome in relation to disease duration and use of immunomodulatory

  4. Metabolic Syndrome among Type-2 Diabetic Patients in Benghazi ...

    African Journals Online (AJOL)

    Background: Metabolic syndrome is a cluster of three out of five conditions that are due to hyperinsulinemia: abdominal obesity, atherogenic dyslipidemia (high triglycerides and/or low HDL), elevated blood pressure, and elevated plasma glucose. The syndrome is highly prevalent in patients with type-2 diabetes mellitus ...

  5. Isolated micropenis reveals partial androgen insensitivity syndrome confirmed by molecular analysis

    OpenAIRE

    Bhangoo, Amrit; Paris, Francoise; Philibert, Pascal; Audran, Francoise; Ten, Svetlana; Sultan, Charles

    2010-01-01

    Partial androgen insensitivity syndrome (PAIS) is the milder variant of androgen receptor (AR) defects. The subtle effects of AR mutations present in a patient with micropenis, peno-scrotal hypospadias, infertility, clitoromegaly and posterior labial fusion. We studied the association of isolated micropenis with the genetic defects resulting in androgen resistance, that is, AR gene defects and 5-α reductase type 2 (SRD5A2) deficiency. We describe two cases of isolated micropenis: one in a 14-...

  6. Metabolic Syndrome and Physical Activity in Hemodialysis Patients

    Directory of Open Access Journals (Sweden)

    derya atik

    2014-06-01

    Full Text Available Purpose: This descriptive study was carried out to reveal the level of physical activity in patients who receive hemodialysis due to chronic kidney failure and to identify its relationship with the prevalence of metabolic syndrome (MetS. Material and method: The study was conducted with 55 patients at the hemodialysis units of Alanya State Hospital and Private Alanya Anadolu Hospital between 10 and 30 June 2013. The study data were collected using the National Cholesterol Education Program, the Adult Treatment Panel III (NCEP-ATP III, a data collection form containing Metabolic Syndrome Diagnosis Criteria, and the International Physical Activity Questionnaire (IPAQ. The data were analyzed using arithmetic mean +/- standard deviation (SD, number and percentage distributions, independent sample t test, crosstabs, One Way Anova, and Pearson and #8217;s Correlation Analysis. Conclusion and suggestions: It was found that 41.8% of the patients were between 50 and 65 years of age, the majority of them were male (58.2%, hemodialysis had been administered to 69.1% of them for at least 36 months, and 50.9% of them met three and more of the MetS criteria. There was no statistically significant relationship between MetS and physical activity levels, but the length of physical activity was longer in those who did not meet the MetS diagnosis criteria (p>0.05. An increase in sedentary time raised the MetS criteria (p<0.05. Conclusion: Nearly 1/2 of the patients were at risk of MetS. Physical activity level being statistically ineffective on MetS can be associated with low physical activity level and longer sedentary time. It can be said that being completely sedentary increases BMI and therefore MetS. The study can be repeated on different samples and the results can be compared. [J Contemp Med 2014; 4(2.000: 69-75

  7. Mortality in patients with respiratory distress syndrome.

    Science.gov (United States)

    Lopez Saubidet, I; Maskin, L P; Rodríguez, P O; Bonelli, I; Setten, M; Valentini, R

    2016-01-01

    Mortality in Acute Respiratory Distress Syndrome (ARDS) is decreasing, although its prognosis after hospital discharge and the prognostic accuracy of Berlin's new ARDS stratification are uncertain. We did a restrospective analysis of hospital and 6 month mortality of patients with ARDS admitted to the Intensive Care Unit of a Univeristy Hospital in Buenos Aires, between January 2008 and June 2011. ARDS was defined by PaO2/FiO2 lower than 200 mmHg under ventilation with at least 10 cm H2O of PEEP and a FiO2 higher or equal than 0.5. and the presence of bilateral infiltrates in chest radiography, in the absence of cardiogenic acute pulmonary edema, during the first 72 hs of mechanical ventilation. Mortality associated risk factors, the use of rescue therapies and Berlin's stratification for moderate and severe ARDS patients were considered. Ninety eight patients were included; mean age was 59±19 years old, 42,9% had mayor co-morbidities; APACHE II at admission was 22±7; SOFA at day 1 was 8±3. Prone position ventilation was applied in 20,4% and rescue measures in 12,2% (12 patients with nitric oxide and 1 with extracorporeal membrane oxygenation). Hospital and 6 months mortality were 37.7 and 43.8% respectively. After logistic regression analysis, only age, the presence of septic shock at admission, Ppl >30 cmH2O, and major co-morbidities were independently associated with hospital outcome. There was no difference between moderate and severe groups (41,2 and 36,8% respectively; p=0,25). In this cohort, including patients with severe hypoxemia and high percentage of mayor co-morbidities, ARDS associated mortality was lower than some previous studies. There was no increase in mortality after hospital discharge. There was no difference in mortality between moderate and severe groups according to Berlin's definition. Copyright © 2015 Elsevier España, S.L.U. y SEMICYUC. All rights reserved.

  8. A novel fragile X syndrome mutation reveals a conserved role for the carboxy-terminus in FMRP localization and function.

    Science.gov (United States)

    Okray, Zeynep; de Esch, Celine E F; Van Esch, Hilde; Devriendt, Koen; Claeys, Annelies; Yan, Jiekun; Verbeeck, Jelle; Froyen, Guy; Willemsen, Rob; de Vrij, Femke M S; Hassan, Bassem A

    2015-04-01

    Loss of function of the FMR1 gene leads to fragile X syndrome (FXS), the most common form of intellectual disability. The loss of FMR1 function is usually caused by epigenetic silencing of the FMR1 promoter leading to expansion and subsequent methylation of a CGG repeat in the 5' untranslated region. Very few coding sequence variations have been experimentally characterized and shown to be causal to the disease. Here, we describe a novel FMR1 mutation and reveal an unexpected nuclear export function for the C-terminus of FMRP. We screened a cohort of patients with typical FXS symptoms who tested negative for CGG repeat expansion in the FMR1 locus. In one patient, we identified a guanine insertion in FMR1 exon 15. This mutation alters the open reading frame creating a short novel C-terminal sequence, followed by a stop codon. We find that this novel peptide encodes a functional nuclear localization signal (NLS) targeting the patient FMRP to the nucleolus in human cells. We also reveal an evolutionarily conserved nuclear export function associated with the endogenous C-terminus of FMRP. In vivo analyses in Drosophila demonstrate that a patient-mimetic mutation alters the localization and function of Dfmrp in neurons, leading to neomorphic neuronal phenotypes. © 2015 The Authors. Published under the terms of the CC BY 4.0 license.

  9. Prevalence and Characteristics of Metabolic Syndrome among Polycystic Ovarian Syndrome Patients in Malaysia

    OpenAIRE

    Azlina Ishak; Azidah Abdul Kadir; Nik Hazlina Nik Hussain; Shaiful Bahari Ismail

    2012-01-01

    Objective: To determine the prevalence of Metabolic Syndrome (MetS) and its characteristics among Polycystic Ovarian Syndrome (PCOS) patients in the north east of Peninsular Malaysia. Design: This was a cross sectional study conducted among 99 PCOS patients in Obstetrics and Gynaecology Clinics in two tertiary centers in the east coast of Peninsular Malaysia, from May 2008 to May 2010. Socio-demographic data, waist circumference, weight, height and blood pressure were recorded. A fasting bl...

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

    Science.gov (United States)

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

    2013-08-01

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

  11. Rapunzel syndrome in a pediatric patient: a case report.

    Science.gov (United States)

    Middleton, Elizabeth; Macksey, Lynn Fitzgerald; Phillips, J Duncan

    2012-04-01

    This case report describes a 2.5-year-old girl who was hospitalized with complaints of abdominal pain and vomiting for 2 days. Abdominal ultrasound revealed small bowel-to-small bowel intussusception. Diagnostic laparoscopic-assisted exploration of the abdomen revealed 4 separate intestinal intussusceptions along with multiple dark intraluminal masses within the small intestine. Laparoscopic reduction of the intussusceptions was unsuccessful. Laparotomy allowed palpation of the entire small intestine with extraction of the masses, which were found to be human hair (trichobezoars). The intussusceptions were reduced, and the multiple masses were removed through a single enterotomy. The child recovered following surgery and was discharged home to her family. The surgeon counseled the parents before discharging the patient and recommended follow-up counseling for their child. The parents were given information about trichophagia and strategies to reduce the behavior in their child. A comprehensive literature review revealed this to be the youngest reported case of intussusception and Rapunzel syndrome due to trichobezoars.

  12. Altered gastric emptying in patients with irritable bowel syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Caballero-Plasencia, A.M.; Valenzuela-Barranco, M. [Department of Medicine, School of Medicine, University of Granada (Spain); Herrerias-Gutierrez, J.M. [Division of Gastroenterology, University Hospital ``Virgen de la Macarena``, Sevilla (Spain); Esteban-Carretero, J.M. [Central Service of Investigation in Health Sciences, University of Cadiz, Cadiz (Spain)

    1999-04-29

    Irritable bowel syndrome is the most frequent functional disorder of the digestive system. Patients with irritable bowel syndrome have motor disorders not only in the colon, but also in other parts of the digestive tract such as the oesophagus and small intestine; however, it is not known whether the stomach is also involved. We used a radiolabelled mixed solid-liquid meal (technetium-99m for the solid component, indium-111 for the liquid component) to study gastric emptying of solids (GES), liquids (GEL) and indigestible solids (GER) in 50 patients diagnosed as having irritable bowel syndrome (30 with predominant constipation and 20 with predominant diarrhoea). GER was measured by counting the number of indigestible solids remaining in the stomach 4 h after they were swallowed. In patients with irritable bowel syndrome, GES and GEL were slower than in control subjects (P<0.05). GER was normal in all patients except for two women. Thirty-two patients (64%) showed delayed GES, 29 (58%) delayed GEL, and 2 (4%) delayed GER. Among patients with irritable bowel syndrome, GES was slower in those with predominant constipation than in those with predominant diarrhoea (P<0.05); GEL and GER were similar in both groups. Gastroparesis was found in a large proportion of patients with irritable bowel syndrome, suggesting the presence of a more generalised motor disorder of the gut. (orig.) With 1 fig., 3 tabs., 48 refs.

  13. Altered gastric emptying in patients with irritable bowel syndrome

    International Nuclear Information System (INIS)

    Caballero-Plasencia, A.M.; Valenzuela-Barranco, M.; Herrerias-Gutierrez, J.M.; Esteban-Carretero, J.M.

    1999-01-01

    Irritable bowel syndrome is the most frequent functional disorder of the digestive system. Patients with irritable bowel syndrome have motor disorders not only in the colon, but also in other parts of the digestive tract such as the oesophagus and small intestine; however, it is not known whether the stomach is also involved. We used a radiolabelled mixed solid-liquid meal (technetium-99m for the solid component, indium-111 for the liquid component) to study gastric emptying of solids (GES), liquids (GEL) and indigestible solids (GER) in 50 patients diagnosed as having irritable bowel syndrome (30 with predominant constipation and 20 with predominant diarrhoea). GER was measured by counting the number of indigestible solids remaining in the stomach 4 h after they were swallowed. In patients with irritable bowel syndrome, GES and GEL were slower than in control subjects (P<0.05). GER was normal in all patients except for two women. Thirty-two patients (64%) showed delayed GES, 29 (58%) delayed GEL, and 2 (4%) delayed GER. Among patients with irritable bowel syndrome, GES was slower in those with predominant constipation than in those with predominant diarrhoea (P<0.05); GEL and GER were similar in both groups. Gastroparesis was found in a large proportion of patients with irritable bowel syndrome, suggesting the presence of a more generalised motor disorder of the gut. (orig.)

  14. Temporomandibular disorders in burning mouth syndrome patients: an observational study.

    Science.gov (United States)

    Corsalini, Massimo; Di Venere, Daniela; Pettini, Francesco; Lauritano, Dorina; Petruzzi, Massimo

    2013-01-01

    Burning Mouth Syndrome (BMS) is a chronic disease characterized by absence of any lesions and burning of the oral mucosa associated to a sensation of dry mouth and/or taste alterations. The purpose of our study is to estimate signs and symptoms of Temporomandibular Disorders (TMD) in patients with BMS and to investigate for the existence of an association between BMS and TMD. Forty-four BMS patients were enrolled; BMS subtype was established according to the classification of Lamey. After a gnathological evaluation, according to the protocol of the European Academy of Craniomandibular Disorders, patients were classified by RDC/TMD criteria. The data were compared and analyzed using a chi-square test to describe the existence of an association between BMS and TMD. 65.9% the BMS patients showed disorders classified as primary signs and symptoms of TMD according to RDC / TMD criteria, and 72.7% showed parafunctional habits. The chi-square test revealed a statistically significant association (p = 0.035) between BMS and TMD. The data suggest that there is a possible relationship not yet well understood between BMS and TMD, may be for neurophatic alterations assumed for BMS that could be also engaged in TMD pathogenesis.

  15. Posterior reversible encephalopathy syndrome in patient of severe ...

    African Journals Online (AJOL)

    neuroradiologic condition, not commonly reported in the literature. PRES is an uncommon complication of severe preeclampsia/eclampsia. We report the management of one patient with postpartum preeclampsia as an association of HELLP syndrome ...

  16. [The nutrition of acute phase in patients with metabolic syndrome].

    Science.gov (United States)

    Tsutsumi, Rie; Sebe, Mayu

    2016-03-01

    In this session, we describe the acute phase in patients with metabolic syndrome from two sides; acute disease that occurs higher in patients with metabolic syndrome such as colonary heart disease and stroke, and acute aggravation of diabetes such as diabetic ketoacidosis and hyperosmolar hyperglycemic syndrome. The electrolyte imbalance is frequently detected in critical ill patients. It is reported that the extreme abnormalities of ionized calcium concentrations are independent predictors of mortality. In addition, from clinical database MIMIC-Ⅱ,calcium supplementation improves clinical outcome in intensive care unit patients. Although metabolic syndrome; lifestyle-related disease, is a chronic disease, the possibility of falling into acute disease by having it becomes very high and improvement of electrolyte imbalance, especially hypocalcaemia is expected to effective on clinical outcome.

  17. Cerebral Venous Thrombosis Revealing Primary Sjögren Syndrome: Report of 2 Cases

    Directory of Open Access Journals (Sweden)

    A. Mercurio

    2013-01-01

    Full Text Available Sjögren syndrome (SS is an autoimmune disease of the exocrine glands, characterized by focal lymphocytic infiltration and destruction of these glands. Neurologic complications are quite common, mainly involving the peripheral nervous system (PNS. The most common central nervous system (CNS manifestations are myelopathy and microcirculation vasculitis. However, specific diagnostic criteria for CNS SS are still lacking. We report two cases of primary SS in which the revealing symptom was cerebral venous thrombosis (CVT in the absence of genetic or acquired thrombophilias.

  18. FEATURES OF THE CHRONIC PAIN SYNDROME IN PATIENTS WITH RHEUMATOID ARTHRITIS AND MEDICAL DIAGNOSTIC TACTICS

    Directory of Open Access Journals (Sweden)

    M. A. Gromova

    2016-01-01

    Full Text Available Objective: to establish features of a chronic pain syndrome disorders in patients with rheumatoid arthritis, to reveal correlation with psychoemotional disorders and to develop the differential approach to maintaining patients. Materials and methods. 101 patients at the age of 60.6 ± 11.8 years, 92 % of women, with reliable rheumatoid arthritis (American College of Rheumatology – ACR, 1987, were examined. The visual analog scale was used for an assessment of pain strength at the moment; the Van Korff’s questionnaire – for determination of pain strength at the moment and retrospectively for the last half a year with an assessment of disadaptation level and disability, ranging of a chronic pain syndrome on classes; the McGill Pain Questionnaire – for the characteristic of touchsensitive and emotional components of pain. Neuropathic pain was revealed by DN4 questionnaire. Anxiety and depression were determined by the Hospital Anxiety and Depression Scale (HADS. Fibromyalgia diagnosed by criteria of ACR, (1990. Results. Pain estimated by various scales and questionnaires varied from moderated to intensive. According to Van Korff’s questionnaire it was characterized by average level of disadaptation and easy disability that corresponded to the second class of chronic pain. The Rank pain index of the McGill Pain Questionnaire touch scale testified that pain was described by a smaller number of definitions on a touch scale than on emotional. This indicates a moderate impact of pain syndrome on a state of mind. Neuropathic pain is diagnosed for 37.3 % of patients with tunnel syndrome, mononeuritis and touch polyneuropathy. The secondary fibromyalgia is revealed for 2 % of patients with early rheumatoid arthritis of high activity. According to HADS anxiety and depression was revealed for 58 and 59 % of patients correspondingly. This demanded psychotherapeutic consultation and additional correction. We proposed the algorithm of diagnostic and

  19. 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.

  20. 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.

  1. Digital subtraction angiography in patients with Marfan's syndrome

    International Nuclear Information System (INIS)

    Rauber, K.; Riemann, H.

    1987-01-01

    Marfan's syndrome is a rare inborn error of metabolism. Marfan patients are prone to aneurysms of the ascending aorta and run a high risk of rupture of the aortic arch. The diameter of the aneurysm is the most important predictor of the risk and therefore the leading point for surgical interventions. IV and IA-DSA according to our experiences are simple and effective methods in pre- and postoperative evaluation of patients with the syndrome. (orig.) [de

  2. The Shoulder Gradient in Patients with Unilateral Shoulder Impingement Syndrome

    OpenAIRE

    Kim, Hee-Sang; Lee, Jong Ha; Yun, Dong Hwan; Yun, Jee-Sang; Shin, Yong Won; Chon, Jinmann; Hwang, Dae Gyu

    2011-01-01

    Objective To investigate the relationship between the shoulder gradient and acromiohumeral interval of both shoulders in patients with unilateral shoulder impingement syndrome. Method Using the angulometer, we measured the shoulder gradient in patients with unilateral shoulder impingement syndrome in a standing position. Using the radiography, we measured the acromiohumeral interval and the angle between a vertical line and a line connecting a superior angle with an inferior angle of the scap...

  3. 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)

  4. Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome.

    Science.gov (United States)

    Koczkowska, Magdalena; Wierzba, Jolanta; Śmigiel, Robert; Sąsiadek, Maria; Cabała, Magdalena; Ślężak, Ryszard; Iliszko, Mariola; Kardaś, Iwona; Limon, Janusz; Lipska-Ziętkiewicz, Beata S

    2017-02-01

    Chromosome 22q11.2 deletion syndrome, one of the most common human genomic syndromes, has highly heterogeneous clinical presentation. Patients usually harbor a 1.5 to 3 Mb hemizygous deletion at chromosome 22q11.2, resulting in pathognomic TBX1, CRKL and/or MAPK1 haploinsufficiency. However, there are some individuals with clinical features resembling the syndrome who are eventually diagnosed with genomic disorders affecting other chromosomal regions. The objective of this study was to evaluate the additive value of high-resolution array-CGH testing in the cohort of 41 patients with clinical features of 22q11.2 deletion syndrome and negative results of standard cytogenetic diagnostic testing (karyotype and FISH for 22q11.2 locus). Array-CGH analysis revealed no aberrations at chromosomes 22 or 10 allegedly related to the syndrome. Five (12.2 %) patients were found to have other genomic imbalances, namely 17q21.31 microdeletion syndrome (MIM#610443), 1p36 deletion syndrome (MIM#607872), NF1 microduplication syndrome (MIM#613675), chromosome 6pter-p24 deletion syndrome (MIM#612582) and a novel interstitial deletion at 3q26.31 of 0.65 Mb encompassing a dosage-dependent gene NAALADL2. Our study demonstrates that the implementation of array-CGH into the panel of classic diagnostic procedures adds significantly to their efficacy. It allows for detection of constitutional genomic imbalances in 12 % of subjects with negative result of karyotype and FISH targeted for 22q11.2 region. Moreover, if used as first-tier genetic test, the method would provide immediate diagnosis in ∼40 % phenotypic 22q11.2 deletion subjects.

  5. Epidemiological and clinical characteristics of Reiter's syndrome in Jordanian patients

    International Nuclear Information System (INIS)

    Al-Mrayat, Z.; Abdallat, S.; Marabha, T.

    2004-01-01

    Objective: To study the epidemiological and clinical features of Reiter's syndrome in patients who visited the rheumatology clinic in King Hussein Medical Centre (KHMC), Jordan. Methods: A prospective study, including 43 patients with the diagnosis of Reiter's syndrome was done. Patients were assessed by taking complete history, physical examination and appropriate investigations including urinalysis and culture, stool examination and culture, synovial fluid analysis, complement fixation test for Chlamydia trachomatis, complete blood count, erythrocyte sedimentation rate, rheumatoid factor, antinuclear antibodies. HLA-B27 and radiological study. Results: All patients in this study were white men, with mean age of 26.3 years. HLA-B27 was positive in 37 patients (86%). Most cases were post venereal (32 patients, 74%) while the rest were dysenteric. The clinical manifestations were arthritis in all patients (100%), urethritis in 21 patients (48%), ocular involvement in 20 patients (46%), diarrhea in 12 patients (28%), painless oral ulcers in 11 patients (26%), skin lesions in 5 patients (12%) and constitutional symptoms in 7 patients (16%). Arthritis was mostly oligoarticular (25 patients, 58%) with asymmetrical pattern in 34 patients (78%). Large joints of lower extremity were most involved (29 patients, 68%). Rheumatoid factor and antinuclear antibodies were negative in all patients. Relapses occurred in 7 patients (16%) after a mean period of 6.2 months. Conclusion: It is concluded that the epidemiological and clinical features of Reiter's syndrome in Jordan are not different from those in the literature. (author)

  6. Work ability index, absenteeism and depression among patients with burnout syndrome.

    Science.gov (United States)

    Pranjic, Nurka; Males-Bilic, Ljiljana

    2014-08-01

    The aim of this study is to estimate the association of burnout syndrome and depression; burnout syndrome and sick leave; and burnout syndrome with Work Ability Index in patients who suffer from stress at work. The control clinical study was conducted in the Teaching Department for Professional Pathology and Toxicology at the Primary Health Care Center Tuzla in the period from 2009 to 2014. The study included 140 patients exposed to different levels of stress at work. Besides conducted interviews and anamnesis with working anamnesis, physical examination, all patients were subjected to diagnostic package of questionnaires for assessing exposure to stress at work and its effects on health and work ability and Hamilton Rating Scale for screening depression. All patients were referred to the Department with suspected distress and burnout syndrome. For this study we used a questionnaire for measuring intensity of burnout (two categories exclude suffering from burnout syndrome: successfully overcome stress at work and sometimes feel stress at work and the other two reveal the initial and very high burn-out syndrome. Studied group was consisted of patients categorized with burnout syndrome (n=88). The questionnaire on the Work Ability Index (WAI) estimated characteristics of sick leave and prognostic factors with current work ability index. Lack of support at work with poor personal relations is the most common factor with the mobbing in burnout syndrome. Significantly more patients with the burnout syndrome suffered very severe depression 49%:37%; more use long sick leaves 53%:21%; several of them have poor WAI 51%:31% compared to those who are only exposed to stress at work (p=0.001). We found that the burn-out syndrome is predictor for developing depression (β=0.312, 95% CI, 0.114-0.353, p=0.001); absenteeism (β=0.285, 95% CI, 0.093-0.334, p=0.001); and a decline in working ability (β=0.413, 95% CI, 0.297-0.648). All the patients in whom it is found burnout

  7. Capgras syndrome associated with limbic encephalitis in a patient with diffuse large B-cell lymphoma

    OpenAIRE

    Soares Neto, Herval Ribeiro; Cavalcante, Wagner Cid Palmeira; Martins Filho, Sebastião Nunes; Smid, Jerusa; Nitrini, Ricardo

    2016-01-01

    We report the case of a patient with insidious onset and slowly progressive cognitive impairment, behavioral symptoms, temporal lobe seizures and delusional thoughts typical of delusional misidentification syndromes. Clinical presentation along with extensive diagnostic work-up revealed limbic encephalitis secondary to diffuse large B-cell lymphoma. The patient underwent immunotherapy with high-dose corticosteroid but no significant improvement was observed. No specific treatment for lymphoma...

  8. Sequential supernumerary teeth development in a non-syndromic patient; report of a rare case.

    Science.gov (United States)

    Jafarian, Mohammad; Nazemi, Bahareh; Bargrizan, Majid; Ramezani, Jamileh; Ansari, Ghassem

    2013-11-01

    Isolated impacted supernumerary teeth are quite rare, but they can be seen associated with several syndromes such as cleidocranial dysostosis or Gardner's syndrome. This article aims to discuss a case of sequential formation of supernumerary teeth with no other associated disease or syndrome. A 17-year-old Iranian male with 8 impacted supernumerary teeth was referred to the department of pediatric dental clinic at Shahid Beheshti Medical University in Tehran with a history of several impacted unerupted teeth. Repeated and periodical clinical and radiographic examinations revealed newly formed teeth buds in unusual dental ages. All extra teeth were associated with generalized enamel hypoplasia to some degree on their relative permanent adjacent teeth. The patient did not have any record of a systemic disease or any syndromic condition to relate his dental problem to. This rare condition involved repeated and continued formation of extra teeth out of the normal numbers and dental age evident in serial radiographs.

  9. Sequential supernumerary teeth development in a non-syndromic patient; report of a rare case.

    Directory of Open Access Journals (Sweden)

    Mohammad Jafarian

    2013-12-01

    Full Text Available Isolated impacted supernumerary teeth are quite rare, but they can be seen associated with several syndromes such as cleidocranial dysostosis or Gardner's syndrome. This article aims to discuss a case of sequential formation of supernumerary teeth with no other associated disease or syndrome. A 17-year-old Iranian male with 8 impacted supernumerary teeth was referred to the department of pediatric dental clinic at Shahid Beheshti Medical University in Tehran with a history of several impacted unerupted teeth. Repeated and periodical clinical and radiographic examinations revealed newly formed teeth buds in unusual dental ages. All extra teeth were associated with generalized enamel hypoplasia to some degree on their relative permanent adjacent teeth. The patient did not have any record of a systemic disease or any syndromic condition to relate his dental problem to. This rare condition involved repeated and continued formation of extra teeth out of the normal numbers and dental age evident in serial radiographs.

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

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    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.

  11. Hughes-Stovin syndrome revealing the presence of Behçet's Disease.

    Science.gov (United States)

    Kechida, Melek; Yaacoubi, Sondes; Zrig, Ahmed; Jomaa, Walid; Klii, Rim; Hammami, Sonia; Khochtali, Ines

    2017-01-01

    Hughes-Stovin Syndrome (HSS) is a rare clinical disorder characterized by deep venous thrombosis and multiple pulmonary and/or bronchial aneurysms. Aneurysms in systemic circulation can also be seen. We report the first case of HSS with aortic aneurysm in a 55-year-old man who initially presented with deep venous thrombosis. The diagnosis of HSS revealing Behçet's disease was made given the history of recurrent oral and genital ulcers. Treatment consisted of 3 daily pulses of methylprednisolone (1g) followed by oral prednisone (1mg/kg daily) and 6 monthly pulses of cyclophosphamide. Oral anticoagulation treatment was held 3 months and then was stopped with good outcome. Systemic aneurysms in Hughes Stovin is a worth knowing complication which may reveal Behçet's disease.

  12. Gynecological disorders in bladder pain syndrome/interstitial cystitis patients.

    Science.gov (United States)

    Cervigni, Mauro; Natale, Franca

    2014-04-01

    Bladder pain syndrome/interstitial cystitis, a chronic inflammatory condition of the bladder, is the source of pain in over 30% of female patients with chronic pelvic pain. The aim of the present study was to evaluate the most frequent associations between bladder pain syndrome/interstitial cystitis and gynecological disorders. A literature review of the previous 10 years was carried out to evaluate the incidence of gynecological diseases in patients with bladder pain syndrome/interstitial cystitis. Hypertonic pelvic floor dysfunction with associated voiding dysfunction can be present in bladder pain syndrome/interstitial cystitis patients. It has been estimated that the prevalence ranges from 50% to 87%. Endometriosis affects 1-7% of the general population and up to 70% of women with endometriosis have some type of pain symptoms, a recent systematic review estimated the prevalence of bladder pain syndrome to be 61%, of endometriosis to be 70%, and coexisting bladder pain syndrome and endometriosis to be 48%. Vulvodynia is represented by pain, or an unpleasant altered sensation, in the vulva. Women with vestibulodynia are likely to have other additional pain conditions, such as fibromyalgia, irritable bowel syndrome or chronic fatigue syndrome. Recent data reported that vestibulodynia affects 25% of women with bladder pain syndrome/interstitial cystitis. Bladder pain syndrome/interstitial cystitis is a complex pathology often associated with vulvodynia, endometriosis and pelvic floor dysfunctions. Therefore, it is of utmost importance to obtain an accurate evaluation ruling out confusable disease, such as pudendal neuropathy. The optimal approach is a combined treatment oriented not only to treat the bladder, but also the other components responsible for the pain disorder. © 2014 The Japanese Urological Association.

  13. Toxicity of oral radiotherapy in patients with acquired immunodeficiency syndrome

    International Nuclear Information System (INIS)

    Cooper, J.S.; Fried, P.R.

    1987-01-01

    Although radiotherapy is a standard form of management of head and neck tumors, treatment of the oral cavity in patients who have the acquired immunodeficiency syndrome has produced unacceptable toxicity. Five such patients are described as a warning of enhanced toxicity of oral radiotherapy in this patient population

  14. Vesical hemangioma in patient with Klippel-Trenaunay-Weber syndrome

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    Favorito Luciano A.

    2003-01-01

    Full Text Available Klippel-Trenaunay-Weber syndrome is characterized by cutaneous hemangiomas, varicosity and bony hypertrophy of extremities. Urinary tract hemangiomas may occur in 3 to 6% of these patients. This work intends to report a case of a patient with a huge vesical hemangioma, who presented this syndrome. A 5 year-old boy with Klippel syndrome sought our services due to 3 episodes of gross hematuria in the past 30 days. Excretory urography and computerized tomography were performed, indicating the presence of a swelling in vesical dome. An exploratory cystotomy was conducted and the dark colored mass in vesical dome was excised by partial cystectomy. The histopathologic finding confirmed that it was a vesical hemangioma. Though rare, urinary tract hemangiomas must always be considered in patients with Klippel-Trenaunay syndrome.

  15. Alien Limb Syndrome Responsive to Amantadine in a Patient with Corticobasal Syndrome

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    Francisco de Assis Aquino Gondim

    2015-07-01

    Full Text Available Background: Corticobasal syndrome (CBS is a complex neurodegenerative disorder associated with parkinsonism and alien limb syndrome. Dressing and ideomotor apraxia were reportedly responsive to amantadine. Case Report: A 79‐year‐old female was referred for evaluation of right hemiparesis. Neurological examination showed dementia, normal ocular movements, mild facial hypomimia, and bradykinesia with right hemiparesis. Nine years later, she developed alien limb syndrome and was diagnosed with CBS. After failure to respond to several medications, alien limb syndrome markedly improved with amantadine. Discussion: To the best of our knowledge, this is the first report of a consistent response of severe, forced dystonic alien limb syndrome to amantadine in a patient with CBS.

  16. The monocyte counts to HDL cholesterol ratio in obese and lean patients with polycystic ovary syndrome.

    Science.gov (United States)

    Usta, Akin; Avci, Eyup; Bulbul, Cagla Bahar; Kadi, Hasan; Adali, Ertan

    2018-04-10

    Women with polycystic ovary syndrome are more likely to suffer from obesity, insulin resistance, and chronic low-grade inflammation. In fact, the excessive activation of monocytes exacerbates oxidative stress and inflammation. However, high-density lipoprotein cholesterol neutralizes the pro-inflammatory and pro-oxidant effects of monocytes. The aim of this study is to investigate whether monocyte counts to high-density lipoprotein cholesterol ratio can predict the inflammatory condition in patients with polycystic ovary syndrome. In this cross-sectional study, a total of 124 women (61 of them with polycystic ovary syndrome and 63 age-matched healthy volunteers) were included in the study population. Obese polycystic ovary syndrome patients (n = 30) with a body mass index of ≥25 kg/m 2 and lean polycystic ovary syndrome patients (n = 31) with a body mass index of polycystic ovary syndrome were significantly higher than in control subjects (p = 0.0018). Moreover, a regression analysis revealed that body mass index, the homeostasis model assessment of insulin resistance and the high sensitivity C-reactive protein levels were confounding factors that affected the monocyte counts to high density lipoprotein cholesterol values. Additionally, a univariate and multivariate logistic regression analysis demonstrated that the increased monocyte counts to high density lipoprotein cholesterol values were more sensitive than the other known risk factors (such as increased body mass index, homeostasis model assessment of insulin resistance and high sensitive C-reactive protein levels) in the prediction of the inflammation in patients with polycystic ovary syndrome. The present study demonstrated that the monocyte count to high density lipoprotein cholesterol may be a novel and useful predictor of the presence of polycystic ovary syndrome.

  17. CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome.

    NARCIS (Netherlands)

    Jongmans, M.C.J.; Ravenswaaij-Arts, C.M.A. van; Pitteloud, N.; Ogata, T.; Sato, N.; Claahsen-van der Grinten, H.L.; Donk, K. van der; Seminara, S.; Bergman, J.E.; Brunner, H.G.; Crowley, W.F.; Hoefsloot, L.H.

    2009-01-01

    Kallmann syndrome (KS) is the combination of hypogonadotropic hypogonadism and anosmia or hyposmia, two features that are also frequently present in CHARGE syndrome. CHARGE syndrome is caused by mutations in the CHD7 gene. We performed analysis of CHD7 in 36 patients with KS and 20 patients with

  18. 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

    2015-01-01

    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 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. PMID:25517388

  19. Increased prevalence of metabolic syndrome in patients with acne inversa.

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    Robert Sabat

    Full Text Available BACKGROUND: Acne inversa (AI; also designated as Hidradenitis suppurativa is a common chronic inflammatory skin disease, localized in the axillary, inguinal and perianal skin areas that causes painful, fistulating sinuses with malodorous purulence and scars. Several chronic inflammatory diseases are associated with the metabolic syndrome and its consequences including arteriosclerosis, coronary heart disease, myocardial infraction, and stroke. So far, the association of AI with systemic metabolic alterations is largely unexplored. METHODS AND FINDINGS: A hospital-based case-control study in 80 AI patients and 100 age- and sex-matched control participants was carried out. The prevalence of central obesity (odds ratio 5.88, hypertriglyceridemia (odds ratio 2.24, hypo-HDL-cholesterolemia (odds ratio 4.56, and hyperglycemia (odds ratio 4.09 in AI patients was significantly higher than in controls. Furthermore, the metabolic syndrome, previously defined as the presence of at least three of the five alterations listed above, was more common in those patients compared to controls (40.0% versus 13.0%; odds ratio 4.46, 95% confidence interval 2.02 to 9.96; P<0.001. AI patients with metabolic syndrome also had more pronounced metabolic alterations than controls with metabolic syndrome. Interestingly, there was no correlation between the severity or duration of the disease and the levels of respective parameters or the number of criteria defining the metabolic syndrome. Rather, the metabolic syndrome was observed in a disproportionately high percentage of young AI patients. CONCLUSIONS: This study shows for the first time that AI patients have a high prevalence of the metabolic syndrome and all of its criteria. It further suggests that the inflammation present in AI patients does not have a major impact on the development of metabolic alterations. Instead, evidence is given for a role of metabolic alterations in the development of AI. We recommend

  20. Unique phenotype in a patient with CHARGE syndrome

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    Ten Svetlana

    2011-10-01

    Full Text Available Abstract CHARGE is a phenotypically heterogeneous autosomal dominant disorder recognized as a cohesive syndrome since the identification of CHD7 as a genetic etiology. Classic features include: Coloboma, Heart defects, Atresia choanae, Retarded growth and development, Genitourinary abnormalities, and Ear anomalies and/or deafness. With greater accessibility to genetic analysis, a wider spectrum of features are emerging, and overlap with disorders such as DiGeorge syndrome, Kallmann syndrome, and Hypoparathyroidism Sensorineural Deafness and Renal Disease syndrome, is increasingly evident. We present a patient with a unique manifestation of CHARGE syndrome, including primary hypoparathyroidism and a limb anomaly; to our knowledge, he is also the first CHARGE subject reported with bilateral multicystic dysplastic kidneys. Furthermore, with structural modeling and murine expression studies, we characterize a putative CHD7 G744S missense mutation. Our report continues to expand the CHARGE phenotype and highlights that stringent fulfillment of conventional criteria should not strictly guide genetic analysis.

  1. POSTURAL ALTERATIONS IN PATIENTS WITH SUBACROMIAL IMPINGEMENT SYNDROME.

    Science.gov (United States)

    Alizadehkhaiyat, Omid; Roebuck, Margaret M; Makki, Ahmed T; Frostick, Simon P

    2017-12-01

    An aberrant upper body posture has been proposed as one of the etiological factors contributing to the development of subacromial impingement syndrome (SAIS). Clinicians have translated this supposition into assessment and rehabilitation programs despite insufficient and conflicting evidence to support this approach. The purpose of this study was to compare several postural variables between the SAIS patients and asymptomatic healthy controls. Case-Control Study. A total of 75 participants including 39 patients (20 females; 19 males) and 36 healthy controls (15 females; 21 males) participated in the study. Study evaluated several postural variables including forward head posture (FHP), forward shoulder posture (FSP), thoracic kyphosis index (TKI), scapular index (SI), normalized scapular protraction (NSP), and the lateral scapular slide test (LSST). The variables were compared between patient and control groups according to sex. Significant differences were observed in the female patients compared to asymptomatic controls for the FHP (49.38 + 9.6o vs 55.5o+8.38, p=0.03), FSP (45.58 + 10.1o vs 53.68 + 7.08, p=0.02), and LSST in third position (10.2 + 2.1cm vs 11.5 + 0.7cm, p=0.01). Male patients showed a significant difference only in the FSP compared to controls (61.9o+9.4o vs 49.78 + 9.28, p<0.001). While inadequate data on the relationship between dysfunctional posture and SAIS has led to broad variations in current rehabilitation strategies, the results of the present study revealed different patterns of postural aberrations in female and male patients with SAIS. This clarifies the need to develop individualized or sex-specific approaches for assessing posture in men and women with SAIS and rehabilitation programs based on the assessment results. 3b.

  2. Enhanced MRI in patients with Ramsay-Hunt's syndrome

    International Nuclear Information System (INIS)

    Yanagida, Masahiro; Ushiro, Koichi; Yamashita, Toshio; Kumazawa, Tadami; Katoh, Tsutomu

    1993-01-01

    Enhanced MRI was performed in 14 patients with Ramsay-Hunt,s syndrome to investigate the pathogenesis of this syndrome. All MRI studies were performed on a 0.5T superconductivity MRI system using a head coil with Gd-DTPA. Enhancement was observed in the areas of the distal internal auditory canal and labyrinthine segment in many patients, and was especially prominent in patients suffering from vertigo, tinnitus, and hearing loss. In some patients it involved not only the facial nerve of the internal auditory canal but also the cochlear nerve and vestibular nerves. Since histological changes of the facial nerve in patients with Ramsay-Hunt's syndrome are assumed to occur in the distal internal auditory canal and labyrinthine segment, which is more proximal than the geniculate ganglion, and the possibility is suggested that inflammation may be spread to the vestibular and cochlear nerve via the internal auditory canal. (14 refs., 2 figs.)

  3. Reversible brain atrophy and cognitive impairment in an adolescent Japanese patient with primary adrenal Cushing's syndrome.

    Science.gov (United States)

    Ohara, Nobumasa; Suzuki, Hiroshi; Suzuki, Akiko; Kaneko, Masanori; Ishizawa, Masahiro; Furukawa, Kazuo; Abe, Takahiro; Matsubayashi, Yasuhiro; Yamada, Takaho; Hanyu, Osamu; Shimohata, Takayoshi; Sone, Hirohito

    2014-01-01

    Endogenous Cushing's syndrome is an endocrine disease resulting from chronic exposure to excessive glucocorticoids produced in the adrenal cortex. Although the ultimate outcome remains uncertain, functional and morphological brain changes are not uncommon in patients with this syndrome, and generally persist even after resolution of hypercortisolemia. We present an adolescent patient with Cushing's syndrome who exhibited cognitive impairment with brain atrophy. A 19-year-old Japanese male visited a local hospital following 5 days of behavioral abnormalities, such as money wasting or nighttime wandering. He had hypertension and a 1-year history of a rounded face. Magnetic resonance imaging (MRI) revealed apparently diffuse brain atrophy. Because of high random plasma cortisol levels (28.7 μg/dL) at 10 AM, he was referred to our hospital in August 2011. Endocrinological testing showed adrenocorticotropic hormone-independent hypercortisolemia, and abdominal computed tomography demonstrated a 2.7 cm tumor in the left adrenal gland. The patient underwent left adrenalectomy in September 2011, and the diagnosis of cortisol-secreting adenoma was confirmed histologically. His hypertension and Cushingoid features regressed. Behavioral abnormalities were no longer observed, and he was classified as cured of his cognitive disturbance caused by Cushing's syndrome in February 2012. MRI performed 8 months after surgery revealed reversal of brain atrophy, and his subsequent course has been uneventful. In summary, the young age at onset and the short duration of Cushing's syndrome probably contributed to the rapid recovery of both cognitive dysfunction and brain atrophy in our patient. Cushing's syndrome should be considered as a possible etiological factor in patients with cognitive impairment and brain atrophy that is atypical for their age.

  4. Myocardial storage of chondroitin sulfate-containing moieties in Costello syndrome patients with severe hypertrophic cardiomyopathy.

    Science.gov (United States)

    Hinek, Aleksander; Teitell, Michael A; Schoyer, Lisa; Allen, William; Gripp, Karen W; Hamilton, Robert; Weksberg, Rosanna; Klüppel, Michael; Lin, Angela E

    2005-02-15

    Costello syndrome is a distinctive multiple congenital anomaly syndrome, characterized by loose soft skin with deep palmar and plantar creases, loose joints, distinctive coarse facial features, skeletal abnormalities, cardiac abnormalities (cardiovascular malformation (CVM), hypertrophic cardiomyopathy, tachycardia), predisposition to malignancy, developmental delays, and mental retardation. Previous studies with cultured fibroblasts from individuals with Costello syndrome demonstrate excessive accumulation of chondroitin sulfate-bearing proteoglycans, associated with both impaired formation of elastic fibers and an unusually high rate of cellular proliferation. Despite multiple clinical reports of cardiac abnormalities, there has been only one previously published report describing post-mortem findings in hearts from Costello syndrome patients. Here we provide a detailed description of the post-mortem findings of the hearts of three children with Costello syndrome. Routine histological examination and results of targeted histochemical and immunohistochemical studies revealed that in addition to cardiomyocyte hypertrophy, these hearts also demonstrated massive pericellular and intracellular accumulation of chondroitin sulfate-bearing proteoglycans and a marked reduction of elastic fibers. Normal stroma was replaced by multifocal collagenous fibrosis. Most peculiar was the finding that the bulk of the chondroitin sulfate accumulated in these Costello syndrome hearts is a chondroitin-6-sulfate. In contrast, deposition of chondroitin-4 sulfate was below the level detected in normal hearts. We propose that an imbalance in sulfation of chondroitin sulfate molecules and subsequent accumulation of chondroitin-6-sulfate in cardiomyocytes contribute to the development of the hypertrophic cardiomyopathy of Costello syndrome. (c) 2005 Wiley-Liss, Inc.

  5. EULAR Sjogren's Syndrome Patient Reported Index (ESSPRI) : development of a consensus patient index for primary Sjogren's syndrome

    NARCIS (Netherlands)

    Seror, Raphaele; Ravaud, Philippe; Mariette, Xavier; Bootsma, Hendrika; Theander, Elke; Hansen, Arne; Ramos-Casals, Manel; Doerner, Thomas; Bombardieri, Stefano; Hachulla, Eric; Brun, Johan G.; Kruize, Aike A.; Praprotnik, Sonja; Tomsic, Matija; Gottenberg, Jacques-Eric; Devauchelle, Valerie; Devita, Salvatore; Vollenweider, Cristina; Mandl, Thomas; Tzioufas, Athanasios; Carsons, Steven; Saraux, Alain; Sutcliffe, Nurhan; Vitali, Claudio; Bowman, Simon J.

    Objectives To develop a score for assessment of patients' symptoms in primary Sjogren's syndrome (SS): the EULAR SS Patient Reported Index (ESSPRI). Methods Dryness, pain, somatic and mental fatigue were identified as the main symptoms of patients with primary SS, in studies developing the Profile

  6. [Pulmonary reperfusion syndrome after pulmonary stent implants in a patient with vascular tortuosity syndrome].

    Science.gov (United States)

    Berenguer Potenciano, M; Piris Borregas, S; Mendoza Soto, A; Velasco Bayon, J M; Caro Barri, A

    2015-01-01

    Vascular tortuosity syndrome is a rare genetic disorder that causes tortuosity and stenosis of the pulmonary, systemic and / or coronary circulations. As a result of treatment of pulmonary stenosis, symptoms of pulmonary edema, known as lung reperfusion syndrome, may occur. The case is presented of an adolescent patient with vascular tortuosity syndrome who presented with a pulmonary reperfusion syndrome after multiple stent implants in the left pulmonary artery. After the procedure, the patient immediately developed an acute pulmonary edema with severe clinical deterioration, which required assistance with extracorporeal membrane oxygenation for recovery. Copyright © 2014 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  7. Musculo-Skeletal Abnormalities in Patients with Marfan Syndrome

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    Ali Al Kaissi

    2013-01-01

    Full Text Available Background A leptosomic body type is tall and thin with long hands. Marfanoid features may be familial in nature or pathological, as occurs in congenital contractual arachnodactyly (Beal's syndrome and Shprintzen-Goldberg syndrome mimicking some of the changes of Marfan syndrome, although not accompanied by luxation of lens and dissecting aneurysm of aorta. Methods In this article we collected eight patients who were consistent with the diagnosis of Marfan syndrome via phenotypic and genotypic characterization. Results Our patients manifested a constellation of variable presentations of musculo-skeletal abnormalities ranging from developmental dysplasia of the hip, protrusio acetabuli, leg length inequality, patellar instability, scoliosis, to early onset osteoarthritis. Each abnormality has been treated accordingly. Conclusion This is the first paper which includes the diagnosis and the management of the associated musculo-skeletal abnormalities in patients with Marfan syndrome, stressing that patients with Marfan syndrome are exhibiting great variability in the natural history and the severity of musculo-skeletal abnormalities.

  8. The Shoulder Gradient in Patients with Unilateral Shoulder Impingement Syndrome

    Science.gov (United States)

    Kim, Hee-Sang; Lee, Jong Ha; Yun, Dong Hwan; Yun, Jee-Sang; Shin, Yong Won; Chon, Jinmann

    2011-01-01

    Objective To investigate the relationship between the shoulder gradient and acromiohumeral interval of both shoulders in patients with unilateral shoulder impingement syndrome. Method Using the angulometer, we measured the shoulder gradient in patients with unilateral shoulder impingement syndrome in a standing position. Using the radiography, we measured the acromiohumeral interval and the angle between a vertical line and a line connecting a superior angle with an inferior angle of the scapula. Results In patients with unilateral shoulder impingement syndrome, the frequency of shoulder impingement syndrome was 76.2% (16 of 21) on the side of the relatively lower shoulder. The mean acromiohumeral interval on the side of the lower shoulder was 10.03±1.28 mm, compared with 10.46±1.50 mm for the higher shoulder. The angle between a vertical line and a line connecting a superior angle with an inferior angle of the scapular of the side of the lower shoulder was -0.31±3.73 degrees, compared with 3.85±4.42 degrees for the higher shoulder. Conclusion The frequency of shoulder impingement syndrome was significantly higher on the side of the relatively lower shoulder, and there is no significant difference in the acromiohumeral interval between the side of the lower shoulder and that of the higher shoulder. In patients with unilateral shoulder impingement syndrome, the scapular on the side of lower shoulder was more rotated downward than on the side of the higher shoulder. PMID:22506196

  9. The shoulder gradient in patients with unilateral shoulder impingement syndrome.

    Science.gov (United States)

    Kim, Hee-Sang; Lee, Jong Ha; Yun, Dong Hwan; Yun, Jee-Sang; Shin, Yong Won; Chon, Jinmann; Hwang, Dae Gyu

    2011-10-01

    To investigate the relationship between the shoulder gradient and acromiohumeral interval of both shoulders in patients with unilateral shoulder impingement syndrome. Using the angulometer, we measured the shoulder gradient in patients with unilateral shoulder impingement syndrome in a standing position. Using the radiography, we measured the acromiohumeral interval and the angle between a vertical line and a line connecting a superior angle with an inferior angle of the scapula. In patients with unilateral shoulder impingement syndrome, the frequency of shoulder impingement syndrome was 76.2% (16 of 21) on the side of the relatively lower shoulder. The mean acromiohumeral interval on the side of the lower shoulder was 10.03±1.28 mm, compared with 10.46±1.50 mm for the higher shoulder. The angle between a vertical line and a line connecting a superior angle with an inferior angle of the scapular of the side of the lower shoulder was -0.31±3.73 degrees, compared with 3.85±4.42 degrees for the higher shoulder. The frequency of shoulder impingement syndrome was significantly higher on the side of the relatively lower shoulder, and there is no significant difference in the acromiohumeral interval between the side of the lower shoulder and that of the higher shoulder. In patients with unilateral shoulder impingement syndrome, the scapular on the side of lower shoulder was more rotated downward than on the side of the higher shoulder.

  10. Metabolic syndrome in asthmatic patients of hazara division

    International Nuclear Information System (INIS)

    Ahmed, N.; Kazim, S.M.; Gillani, S.Y.

    2017-01-01

    Bronchial asthma is a common disease and most asthmatics are obese. Both asthma and obesity are showing parallel trends in their increasing prevalence. Obesity is also the main component of metabolic syndrome and several studies have shown metabolic syndrome to be associated with bronchial asthma. The present study was, therefore, designed to determine the frequency of metabolic syndrome among patients with chronic asthma in our setup. Methods: This cross-sectional study was conducted in Department of Medicine, Ayub Teaching Hospital, Abbottabad from May to November, 2014. One hundred and fifty-four asthmatic patients were enrolled in this study. Samples for blood glucose, triglycerides and HDL Cholesterol were taken after an overnight fast. Sitting blood pressure was measured with mercury sphygmomanometer after 10 minutes of rest. Waist circumference was measured at the level of the midpoint between the high point of the iliac crest and the last rib. Results: Out of 154 patients, 80 were males and 74 were females. Metabolic syndrome was diagnosed in 46 (29.87 percent) patients. When metabolic syndrome was stratified according to age, sex and duration of asthma, the results were found to be insignificant (p-0.89, 0.30 and 0.85). Conclusion: This study showed that metabolic syndrome was present in almost one third of study population. (author)

  11. Low-dose steroid-induced tumor lysis syndrome in a hepatocellular carcinoma patient

    Directory of Open Access Journals (Sweden)

    Jin Ok Kim

    2015-03-01

    Full Text Available Tumor lysis syndrome is rare in hepatocellular carcinoma (HCC, but it has been reported more frequently recently in response to treatments such as transcatheter arterial chemoembolization (TACE, radiofrequency thermal ablation (RFTA, and sorafenib. Tumor lysis syndrome induced by low-dose steroid appears to be very unusual in HCC. We report a patient with hepatitis-C-related liver cirrhosis and HCC in whom tumor lysis syndrome occurred due to low-dose steroid (10 mg of prednisolone. The patient was a 90-year-old male who presented at the emergency room of our hospital with general weakness and poor oral intake. He had started to take prednisolone to treat adrenal insufficiency 2 days previously. Laboratory results revealed hyperuricemia, hyperphosphatemia, and increased creatinine. These abnormalities fulfilled the criteria in the Cairo-Bishop definition of tumor lysis syndrome. Although the patient received adequate hydration, severe metabolic acidosis and acute kidney injury progressed unabated. He finally developed multiple organ failure, and died 3 days after admission. This was a case of tumor lysis syndrome caused by administration of low-dose steroid in a patient with HCC.

  12. A Murine Model for Human ECO Syndrome Reveals a Critical Role of Intestinal Cell Kinase in Skeletal Development.

    Science.gov (United States)

    Ding, Mengmeng; Jin, Li; Xie, Lin; Park, So Hyun; Tong, Yixin; Wu, Di; Chhabra, A Bobby; Fu, Zheng; Li, Xudong

    2018-03-01

    An autosomal-recessive inactivating mutation R272Q in the human intestinal cell kinase (ICK) gene caused profound multiplex developmental defects in human endocrine-cerebro-osteodysplasia (ECO) syndrome. ECO patients exhibited a wide variety of skeletal abnormalities, yet the underlying mechanisms by which ICK regulates skeletal development remained largely unknown. The goal of this study was to understand the structural and mechanistic basis underlying skeletal anomalies caused by ICK dysfunction. Ick R272Q knock-in transgenic mouse model not only recapitulated major ECO skeletal defects such as short limbs and polydactyly but also revealed a deformed spine with defective intervertebral disk. Loss of ICK function markedly reduced mineralization in the spinal column, ribs, and long bones. Ick mutants showed a significant decrease in the proliferation zone of long bones and the number of type X collagen-expressing hypertrophic chondrocytes in the spinal column and the growth plate of long bones. These results implicate that ICK plays an important role in bone and cartilage development by promoting chondrocyte proliferation and maturation. Our findings provided new mechanistic insights into the skeletal phenotype of human ECO and ECO-like syndromes.

  13. Total artificial heart implantation in a young Marfan syndrome patient.

    Science.gov (United States)

    Rao, Prashant; Keenan, Jack B; Rajab, Taufiek K; Kim, Samuel; Smith, Richard; Amabile, Orazio; Khalpey, Zain

    2018-03-01

    Cardiovascular complications represent the leading cause of morbidity and mortality in patients with Marfan syndrome. Here, we describe a unique case where a total artificial heart was implanted in a young Marfan syndrome woman. A 22-year-old postpartum African American female with Marfan syndrome developed multiple severe valve dysfunction and biventricular failure that was refractory to medical management. She previously had a Bentall procedure for Type A aortic dissection and repair of a Type B dissection. We implanted a total artificial heart with a good outcome. Total artificial heart is a durable option for severe biventricular failure and multiple valvular dysfunction as a bridge to transplant in a young patient with Marfan syndrome.

  14. Superior Mesenteric Artery Syndrome in a Patient with Cerebral Palsy

    Directory of Open Access Journals (Sweden)

    Adi Neuman

    2014-01-01

    Full Text Available Superior mesenteric artery syndrome involves compression of the third part of the duodenum due to narrowing of the area between the aorta and the superior mesenteric artery (SMA. We will describe the case of a 34-year-old with cerebral palsy who presented with abdominal pain, nausea, vomiting, and weight loss and was diagnosed with SMA syndrome via CT-imaging. With failure of conservative measures, our patient underwent a duodenojejunostomy after which improvement in her weight as well as relief of her abdominal symptoms was noted. Given the rarity of this syndrome, physicians need to keep a high index of suspicion in order to prevent the damaging consequences.

  15. [General anesthesia for a patient with post-polio syndrome].

    Science.gov (United States)

    Sonobe, Shota; Imashuku, Yasuhiko; Inamori, Masayuki; Yabuta, Koichi; Hashimura, Toshiya; Kura, Masahiro; Otada, Hideki

    2013-08-01

    We gave anesthesia for a patient with post-polio syndrome undergoing laparoscopic sigmoid colectomy. She is a 68-year-old woman and had been diagnosed as post-polio syndrome since she was 55 years of age. Before the operation, paralysis was observed in her right leg. After inducing anesthesia using propofol, muscle relaxation was obtained by rocuronium bromide for intubation. Remifentanil was used during the operation, and good pain relief was obtained by iv-PCA (fentanyl) after operation.

  16. Culture-bound syndromes in Hispanic primary care patients.

    Science.gov (United States)

    Bayles, Bryan P; Katerndahl, David A

    2009-01-01

    We sought to document Hispanic primary care patients' knowledge and experience of five culture-bound syndromes (CBS), as well as the basic socio-cultural correlates of these disorders. A convenience sample of 100 adult Hispanic patients presenting in an urban South Texas primary care clinic was recruited to complete a brief cross-sectional survey, presented in an oral format. Interviews sought information concerning five culture-bound syndromes--susto, empacho, nervios, mal de ojo, and ataques de nervios. Additional demographic, socio-economic, and acculturation data was collected. Descriptive and bivariate statistics (chi square, Fisher's) were used to assess relationships among variables and experience with each CBS. A multivariate logistic analysis was conducted to determine the possible contributions of age, gender, acculturation, and education to the personal experience of a culture-bound syndrome. Results indicate that 77% of respondents had knowledge of all five syndromes, with 42% reporting having personally experienced at least one CBS. Nervios was the most commonly suffered disorder, being reported by 30 respondents. This was followed, in declining order ofprevalence, by susto, mal de ojo, empacho, and ataques de nervios. Multivariate logistic regression analysis found that higher education beyond high school was associated with a slightly decreased likelihood of reporting having suffered from any culture-bound syndrome. While co-occurrence among these disorders occurred, the patterns of predictors suggest that the co-occurrence is not a reflection of mislabeling of one common syndrome. Knowledge of and experience with culture-bound syndromes is common among Hispanic primary care patients in South Texas. Healthcare providers ought to consider discussing these illnesses in a non-judgmental manner with patients who present with symptoms that are consistent with these syndromes. Future studies, with larger sample sizes, are warranted to elucidate the nature

  17. CE: Nursing Management of Patients with Ehlers-Danlos Syndrome.

    Science.gov (United States)

    Anderson, Linda K

    2015-07-01

    Ehlers-Danlos syndrome (EDS), a hereditary connective tissue disorder, has historically been misunderstood and underdiagnosed by health care providers. Because of the high degree of phenotypic variability, patients are often correctly diagnosed only after years of seemingly unrelated but debilitating injuries and illnesses. Specific genetic mutations have been identified for some, but not all, EDS types; patients presenting with a high index of suspicion should be referred to a geneticist. As awareness and recognition of the syndrome improve, nurses are increasingly likely to care for patients with EDS. This article gives a brief overview of the syndrome and provides guidance on ways to manage symptoms, recognize and prevent serious complications, and improve patients' quality of life.

  18. Report of seven neurological patients with misidentification syndrome

    Directory of Open Access Journals (Sweden)

    Edson José Amâncio

    2004-12-01

    Full Text Available Objective: To present clinical, neuropsychological and laboratorydata on 7 patients with misidentification syndrome and to discussits possible etiologies and pathophysiology. Methods: Sevenpatients presenting misidentification syndrome, 6 female and 1male, aged 64-78 years were studied. All had a brain diseasediagnosed by clinical and laboratory data. All patients weresubmitted to general clinical examination, neurological andneuropsychological examinations, and brain magnetic resonanceimaging. Results: All patients were capable to recognizephotographs of relatives or famous persons. They presented goodvisual acuity that allowed them reading texts with small print andpreserved visual field. The etiologies of brain lesions were ischemicstroke, left temporal lobe tumor, idiopathic hydrocephalus in elderlypatients, Parkinson’s disease and probable Alzheimer’s disease.None presented enough cognitive disorders to characterize seniledementia. Conclusion: Misidentification syndromes are notnecessarily related to one single psychogenic etiology; on thecontrary, many organic causes may be related with the clinicalpicture. Most patients improved when submitted to treatmentwith typical or atypical neuroleptic drugs.

  19. Low Levels of HDL in Fragile X Syndrome Patients.

    Science.gov (United States)

    Lisik, Małgorzata Z; Gutmajster, Ewa; Sieroń, Aleksander L

    2016-02-01

    Fragile X syndrome (FXS) is the most common form of familial mental retardation and one of the leading known causes of autism. The mutation responsible for FXS is a large expansion of the CGG repeats in the promoter region of the FMR1 gene resulting in the transcriptional silencing of the gene in the pathophysiology of Fragile X syndrome was hypothesized. 23 male patients affected by Fragile X syndrome (full mutation in the FMR1 gene) and 24 controls were included in the study. The serum levels of HDL-C were lower in FXS patients (p < 0.001). The serum levels triacylglycerols were higher in FXS patients (p = 0.007) Further study involving larger samples are necessary to confirm the results and define the health implications for abnormal lipid levels in FXS patients.

  20. [Diarrhea in a patient with Down syndrome and endemic sprue].

    Science.gov (United States)

    Micklefield, G; Wenzel, I U

    2000-02-01

    Down syndrome is associated with disorders such as celiac disease, hypothyroidism, and insulin-dependent diabetes mellitus. In patients with mono- or oligosymptomatic celiac disease the time interval between the onset of symptoms and diagnosis often is unacceptably long. A female patient with Down syndrome is presented who had acute watery diarrhea, which spontaneously ceased but recurred after a few days. After endoscopic and histologic evaluation and measurement of gliadin, endomysium, and reticulin antibodies celiac sprue was diagnosed. Further investigation showed findings of autoimmune hypothyroidism and secondary hyperparathyreoidism. After the patient was put on a gluten-free diet her state quickly improved. Associations between Down syndrome and autoimmune diseases exist. Patients with acute gastrointestinal symptoms should be evaluated as to celiac disease. The time interval between the onset of symptoms and diagnosis of celiac disease can be shortened, if all diagnostic tools are used at the appropriate time.

  1. FISH analysis in Prader-Willi and Angelman syndrome patients

    Energy Technology Data Exchange (ETDEWEB)

    Bettio, D.; Rizzi, N.; Giardino, D. [Centro Auxologico Italiano, Milan (Italy)] [and others

    1995-03-27

    We report on a combined high resolution cytogenetic and fluorescent in situ hybridization study (FISH) on 15 Prader-Willi syndrome (PWS) and 14 Angelman syndrome (AS) patients. High resolution banding showed a microdeletion in the 15q11-q13 region in 7 out of 15 PWS patients, and FISH analysis of the D15S11 and SNRPN cosmids demonstrated absence of the critical region in three additional cases. Likewise 8 out of 14 AS patients were found to be deleted with FISH, using the GABRB3 specific cosmid, whereas only 4 of them had a cytogenetically detectable deletion. 19 refs., 3 figs., 1 tab.

  2. Longitudinal Neuropsychological Profile in a Patient with Triple A Syndrome

    Directory of Open Access Journals (Sweden)

    Luigi Mazzone

    2013-01-01

    Full Text Available Triple A syndrome is an autosomal recessive disorder characterized by the triad of adrenocorticotropic hormone resistant adrenal insufficiency, achalasia, and alacrima. Our aim was to describe the neuropsychological characteristics and the cooccurring psychopathological and neurological disorders in an Italian male child suffering from Triple A syndrome at the time of admission (T0 and after one year of follow-up (T1. Many difficulties were observed in the motor domain, as well as in manual dexterity and static/dynamic balance domains of the motor task over time. In sharp contrast with previous literature reports on frequent mild cognitive dysfunction in patients with Triple A syndrome, our child did not show any mental retardation. By contrast, he showed an average IQ at T0 with a slight improvement at T1. To our knowledge, this report is the first describing neuropsychological profile and co-occurring psychopathological problems in a child with Triple A syndrome. Considering that the Triple A syndrome is a progressive disorder which can take years to develop the full-blown clinical picture, these patients require periodical medical controls. Moreover, assessment of neuropsychological and psychopathological features should be performed in patients with this disease, in order to underline the variability of this syndrome.

  3. Acute Pulmonary Edema in Patients with Cushing’s Syndrome

    Directory of Open Access Journals (Sweden)

    Mitra Niafar

    2015-01-01

    Full Text Available Introduction Dyspnea refers to difficulty in breathing, and short and shallow breaths. This sign is seen in numerous diseases due to pulmonary, cardiac, metabolic and neurological causes. Among cardiac causes, heart failure is considered the main cause of dyspnea. Cardiac failure is a clinical syndrome associated with a set of symptoms (dyspnea, and fatigue and signs (edema and rales. Common causes of cardiac failure include: myocardial infarction, ischemic heart disease, hypertension, valvular heart diseases, and cardiomyopathy. Among uncommon causes of heart failure, endocrine disorders such as Cushing’s syndrome can be cited. Cushing’s syndrome can present itself in less common forms such as dyspnea due to heart failure. Cushing’s syndrome’s cardiovascular complications usually occur due to hypertension, end organ damage such as left ventricular heart failure, diastolic and ischemic myocardial heart failure, which are rather seen in chronic cases of the disease and are often irreversible. Transient heart failure in patients with Cushing’s syndrome, due to adrenal adenoma, has been reported in a number of patients. In this case report, a patient is introduced who presented to emergency department with severe dyspnea (FC III, and was ultimately diagnosed with Cushing’s syndrome after work up. Three months after treatment of Cushing’s syndrome, dramatic improvement was observed in this patient’s cardiac function.

  4. A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect

    Directory of Open Access Journals (Sweden)

    De Molfetta Greice Andreotti

    2002-01-01

    Full Text Available Angelman syndrome (AS and Prader-Willi syndrome (PWS are distinct human neurogenetic disorders; however, a clinical overlap between AS and PWS has been identified. We report on a further case of a patient showing the PWS phenotype with the AS molecular defect. Despite the PWS phenotype, the DNA methylation analysis of SNRPN revealed an AS pattern. Cytogenetic and FISH analysis showed normal chromosomes 15 and microsatellite analysis showed heterozygous loci inside and outside the 15q11-13 region. The presence of these atypical cases could be more frequent than previously expected and we reinforce that the DNA methylation analysis is important for the correct diagnosis of severe mental deficiency, congenital hypotonia and obesity.

  5. CT characteristics in 24 patients with POEMS syndrome.

    Science.gov (United States)

    Shi, Xiaofeng; Hu, Shudong; Luo, Xianfu; Luo, Ming; You, Haiyan; Zhu, Yan; Xi, Xiaodong

    2016-01-01

    POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, M protein, and Skin changes) syndrome is a complicated and rare disease. Systematic research on computed tomography (CT) imaging characteristics in POEMS syndrome is scanty. The role of CT in diagnosis needs to be assessed. To retrospectively analyze the CT imaging features in 24 patients with POEMS syndrome and evaluate the role of CT in diagnosis of this disease. Twenty-four patients with confirmed POEMS syndrome were included in the study. Chest and abdominal CT images were analyzed. The three minor diagnostic criteria for POEMS syndrome (extravascular volume overload, organomegaly, and bone lesions) can be detected effectively by CT. Extravascular volume overload involved multiple serous cavities: hydrothorax, hydropericardium, and ascites, which were found in 79.2%, 41.7%, and 54.2% patients, respectively. The volume of effusion was small to moderate. Organomegaly involved multiorgans: hepatomegaly was found in 45.8% patients, splenomegaly in 54.2%, and lymphadenopathy in 75% patients. Hepatospleen exhibited moderate homogeneous enlargement without local enhanced signal after injection of contrast material. Bone lesions were classified into three groups: osteosclerotic, osteolytic, and mixed lesions. Osteosclerotic lesions, taking multiple, scattered, and variably sized high-density plaque-like appearance, were found in 20.8% patients. Osteolytic lesions, exhibiting punched-out low-density image, were found in 4.2% patients. Mixed ones, holding both common characteristics of them, were detected in 8.3% patients. These CT abnormalities disappeared after effective treatment. CT plays vital role in the confirmation of the three minor diagnostic criteria for POEMS syndrome: extravascular volume overload, organomegaly, and bone lesions. © The Foundation Acta Radiologica 2015.

  6. Protein Carbonylation in Patients with Myelodysplastic Syndromes

    Czech Academy of Sciences Publication Activity Database

    Hlaváčková, A.; Štikarová, J.; Kotlín, R.; Chrastinová, L.; Šácha, Pavel; Májek, P.; Čermák, J.; Suttnar, J.; Dyr, J. E.

    2015-01-01

    Roč. 126, č. 23 (2015), s. 5232 ISSN 0006-4971. [Annual Meeting and Exposition of the American Society of Hematology /55./. 07.12.2013-10.12.2013, New Orleans] Institutional support: RVO:61388963 Keywords : protein carbonylation * myelodysplastic syndromes Subject RIV: CE - Biochemistry

  7. Pseudoexfoliation syndrome in Ethiopian glaucoma patients | Bedri ...

    African Journals Online (AJOL)

    Background: Pseudoexfoliation syndrome (PXS) has variable prevalence rates in the glaucoma population depending on geographic location and racial composition of the population studied. There is no data available on this subject in Ethiopia. Objective: To determine the prevalence of PXS among Ethiopian glaucoma ...

  8. Grammar disruption in a patient with Neuro-Sweet syndrome

    NARCIS (Netherlands)

    Marien, Peter; Tops, Wim; Crols, Roel; Jonkers, Roel; De Deyn, Peter P.; Verhoeven, Jo

    2012-01-01

    This paper for the first time reports detailed neurolinguistic findings in a patient with Neuro-Sweet syndrome. In this patient the presenting symptoms of central nervous system (CNS) involvement primarily consisted of a selective grammar deficit restricted to spontaneous speech. On MRI a left

  9. Endoscopic bilateral adrenalectomy in patients with ectopic Cushing's syndrome

    NARCIS (Netherlands)

    W.J. Alberda (Wijnand); C.H.J. van Eijck (Casper); R.A. Feelders (Richard); G. Kazemier (Geert); W.W. de Herder (Wouter); J.W.A. Burger (Jacobus)

    2012-01-01

    textabstractBackground: Bilateral adrenalectomy (BLA) is a treatment option to alleviate symptoms in patients with ectopic Cushing's syndrome (ECS) for whom surgical treatment of the responsible nonpituitary tumor is not possible. ECS patients have an increased risk for complications, because of

  10. Association of metabolic syndrome in patients with osteoarthritis

    International Nuclear Information System (INIS)

    Malik, S.; Salim, B.; Khalil, Z.; Nasim, A.

    2015-01-01

    Objective: To determine association of osteoarthritis (OA) with metabolic syndrome in a tertiary care hospital of Pakistan. Methodology: A cross-sectional study was conducted at Fauji Foundation Hospital, Rawalpindi, Pakistan. Patients were randomly interviewed in the Female Rheumatology department and a total of 240 patients with single rheumatologic disease and age >35 years were selected. Informed consent was taken and patients were interviewed using a self-made questionnaire to evaluate their medical history, physical and laboratory examination. SPSS version 17 was used to analyze the data. Results: Out of 240 subjects, 81 patients had OA and another 81 patients were randomly selected from the age and gender matched control (non-OA) group. The mean age of patients in OA and non-OA group was 56.68 ± 09.76 and 53.57 ± 11.01 years, respectively. In OA group, 48.1% and in non-OA group 22.2% of patients were falling in category of being obese/morbidly obese. According to AHA criteria for Metabolic Syndrome, percentage of OA patients labeled to have metabolic syndrome was 58.8% as compared to 19.5% in non-OA group. Conclusion: There was a strong association of metabolic syndrome with OA and would surely make a foreground for future studies to be conducted on developing preventive strategies and ultimately reducing the morbidities and mortalities associated with Metabolic Osteoarthritis. (author)

  11. Prevalence of metabolic syndrome among Psychiatric Patients in the ...

    African Journals Online (AJOL)

    This cross-sectional study seeks to find the prevalence of the metabolic syndrome (MetS), its indi-vidual components and oxidative stress in psychiatric patients on antipsychotic medication com-pared to newly diagnosed patients attending ... Keywords: Diabetes, hypertension, dyslipidaemia, oxidative stress, mental illness

  12. Cogan's Syndrome in a Jordanian patient: A case report | Al ...

    African Journals Online (AJOL)

    We reported a Jordanian case of Cogan's Syndrome (CS). A 22-year old male patient presented with interstitial keratitis. The patient was treated successfully with topical steroids but over the following months, he developed vertigo, sensorineural hearing loss (SNHL) and generalized vasculitis. This is the first reported case ...

  13. Rituximab treatment in patients with primary Sjogren's syndrome

    NARCIS (Netherlands)

    Pijpe, J; van Imhoff, GW; Spijkervet, FKL; Roodenburg, JLN; Wolbink, GJ; Mansour, K; Vissink, A; Kallenberg, CGM; Bootsma, H

    Objective. To investigate the safety and efficacy of B cell depletion treatment of patients with active primary Sjogren ' s syndrome of short duration (early primary SS) and patients with primary SS and mucosa-associated lymphoid tissue (MALT)-type lymphoma (MALT/primary SS). Methods. Fifteen

  14. Physical fatigue characterises patient experience of primary Sjogren's syndrome

    NARCIS (Netherlands)

    Arends, S.; Meiners, P.; Moerman, R. V.; Kroese, F. G. M.; Brouwer, Liesbeth; Spijkervet, F. K. L.; Vissink, A.; Bootsma, H.

    2017-01-01

    Objective Besides ocular and oral dryness, fatigue is a major symptom in patients with primary Sjogren's syndrome (pSS). Our aim was to investigate the importance of fatigue in relation to other symptoms experienced as well as to evaluate the effect of rituximab treatment on fatigue in pSS patients

  15. Early diagnosis of Carpal Tunnel Syndrome (CTS) in Indian patients ...

    African Journals Online (AJOL)

    The present study was carried out for early confirmation of clinically diagnosed patients of Carpal Tunnel Syndrome (CTS) by electro-diagnostic tests which included motor conduction, sensory conduction studies and F-wave studies. The aim of the study was early confirmation of clinically suspected patients of CTS by motor ...

  16. Symptoms of shrinking lung syndrome reveal systemic lupus erythematosus in a 12-year-old girl.

    Science.gov (United States)

    Meinicke, Holger; Heinzmann, Andrea; Geiger, Julia; Berner, Reinhard; Hufnagel, Markus

    2013-12-01

    While pleuropulmonary involvement in systemic lupus erythematosus (SLE) is a common occurrence, shrinking lung syndrome (SLS) is a rare complication of SLE, particularly in children. We report on a teenager girl with a primary SLE diagnosis, which was based upon clinical, imaging, lung-function and histological findings ascertained to be compatible with SLS. Following a pneumonia, the patient developed inflammatory residues in the lower lobes, an event that probably caused diaphragmatic immobility and subsequently led to SLS. Treatment response to steroids, cyclophosphamide and hydroxychloroquine in this case was excellent, and efficacy was more profound than previously has been reported in the literature with respect to pediatric patients. This case report argues that prognosis of SLS in SLE is likely to be favorable when the diagnosis is made early and the disease is treated appropriately. © 2012 Wiley Periodicals, Inc.

  17. Psychological underpinning of personalized approaches in modern medicine: syndrome analysis of mitral valve prolapsed patients

    Directory of Open Access Journals (Sweden)

    Zinchenko, Yury P.

    2013-06-01

    Full Text Available The article aims to demonstrate a high efficiency of the methodological means suggested by psychological syndrome analysis approach (Vygotsky-Luria school for solving theoretical and applied issues in contemporary person-centered medicine. This is achieved through an example of empirical study meant to construct a psychosomatic syndrome for 290 patients with mitral valve prolapse (MVP. Analysis of all collected data was based on psychological syndrome analysis concept (Vygotsky–Luria school and A.R. Luria’s principles for psychological factors (causes selection, which determine the logic and structure of a neuropsychological syndrome. It demonstrated the association between characteristics of emotional experiences and clinical symptoms manifested in MVP patients. This correlation was statistically verified. The results proved that the most important syndrome-establishment factor (radical is a specific emotionality and dysfunction of emotion regulation and emotional control in MVP patients (excessive emotional repression with insufficient reflection of emotional experiences. Features of the motivation sphere of MVP patients appear as a second psychological syndrome-establishment factor: these are domination of the motive of failure avoidance and unsatisfied self-approval need. We argue that psychological syndrome analysis can be used as a means to approach not only diagnostic but also prognostic tasks both in clinical psychology and medicine, as well as for the development and implementation of the person-centered integrative diagnosis model. We maintained that this approach, applied in theoretical and practical fields of clinical psychology and mental health care is highly efficient at the current stage of the science evolution due to prospects revealed by s new methodological context of postnonclassical model of rationality and a comprehensive character of the cultural-historical concept regarding an individual and his mind as a self

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

    Science.gov (United States)

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

    2012-02-01

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

  19. SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadism.

    Science.gov (United States)

    Shima, Hirohito; Ishii, Akira; Wada, Yasunori; Kizawa, Junya; Yokoi, Tadashi; Azuma, Noriyuki; Matsubara, Yoichi; Suzuki, Erina; Nakamura, Akie; Narumi, Satoshi; Fukami, Maki

    2017-08-30

    Hypogonadotropic hypogonadism (HH) is a genetically heterogeneous condition that occurs either as an isolated disorder or as a component of congenital malformation syndromes. SOX2 is a causative gene of syndromic HH characterized by anophthalmia, microphthalmia, or coloboma and other neurological defects such as epilepsy. To date, the causal relationship between SOX2 abnormalities and non-syndromic HH remains speculative. Here, we identified a nonsense mutation of SOX2 in a male patient clinically diagnosed with non-syndromic HH. The patient had epilepsy but no additional clinical features. Ophthalmological examination revealed no abnormalities except for decreased thickness of the retinal nerve fiber layer. Audiometry showed mild sensorineural hearing impairment of both ears. Hormonal evaluation suggested isolated gonadotropin deficiency. Next-generation sequencing-based mutation screening of 13 major causative genes for HH identified a p.Lys35 ∗ mutation in SOX2 and excluded pathogenic mutations in other tested genes. The p.Lys35 ∗ mutation appeared to encode a non-functioning SOX2 protein that lacks 283 of 317 amino acids. The SOX2 mutation was absent in the maternal DNA sample, while a paternal sample was unavailable for sequence analysis. These results expand the clinical consequences of SOX2 haploinsufficiency to include non-syndromic HH. Systematic mutation screening using a next-generation sequencer and detailed evaluation of nonspecific ocular/neurological features may help identify SOX2 mutation-positive individuals among HH patients.

  20. Multidisciplinary care in the intensive care unit for a patient with Prader-Willi syndrome: a dental approach.

    Science.gov (United States)

    Setti, Juliana Santiago; Pinto, Sérgio Felix; Gaetti-Jardim, Ellen Cristina; Manrique, Gustavo Rodrigues; Mendonça, José Carlos Garcia de

    2012-03-01

    Prader-Willi syndrome is a genetic neurobehavioral disease affecting children's development and resulting in obesity, reduced height, hypotonia, endocrine disorders and cognitive deficits, which may impair oral integrity. This study aims to report on a case involving a white male 15-year-old patient with Prader-Willi syndrome whose oral examination revealed bacterial plaque, gingivitis, poor occlusion, viscous salivation and multiple lip, jugal mucosa, inserted gum and tongue ulcerations. An excision biopsy revealed oral ulcerations typical of herpes, which were considered to be likely to correlate with herpes encephalitis. This result demonstrates that a large portion of the deleterious effects of Prader-Willi syndrome can be attenuated by appropriate diagnosis and early therapeutic intervention, highlighting the role of an integrated multidisciplinary team in the development of therapeutic protocols for Prader-Willi syndrome patients.

  1. DXA measurements in Rett syndrome reveal small bones with low bone mass.

    Science.gov (United States)

    Roende, Gitte; Ravn, Kirstine; Fuglsang, Kathrine; Andersen, Henrik; Nielsen, Jytte Bieber; Brøndum-Nielsen, Karen; Jensen, Jens-Erik Beck

    2011-09-01

    Low bone mass is reported in growth-retarded patients harboring mutations in the X-linked methyl-CpG-binding protein 2 (MECP2) gene causing Rett syndrome (RTT). We present the first study addressing both bone mineral density (BMD) and bone size in RTT. Our object was to determine whether patients with RTT do have low BMD when correcting for smaller bones by examination with dual-energy X-ray absorptiometry (DXA). We compared areal BMD (aBMD(spine) and aBMD(total hip) ) and volumetric bone mineral apparent density (vBMAD(spine) and vBMAD(neck) ) in 61 patients and 122 matched healthy controls. Further, spine and hip aBMD and vBMAD of patients were associated with clinical risk factors of low BMD, low-energy fractures, MECP2 mutation groups, and X chromosome inactivation (XCI). Patients with RTT had reduced bone size on the order of 10% and showed lower values of spine and hip aBMD and vBMAD (p bone mass and small bones are evident in RTT, indicating an apparent low-bone-formation phenotype. Copyright © 2011 American Society for Bone and Mineral Research.

  2. Prevalence of metabolic syndrome diagnosis in patients with obstructive sleep apnoea syndrome according to adopted definition.

    Science.gov (United States)

    Kumor, Marta; Bielicki, Piotr; Barnaś, Małgorzata; Przybyłowski, Tadeusz; Zieliński, Jan; Chazan, Ryszarda

    2013-01-01

    Metabolic syndrome (MS), which is connected with enlarged cardiovascular risk, is common in patients with OSAS. The aim of the study was to estimate the prevalence of MS in patients with OSAS according to two definitions of MS (criteria from NCEP-ATP III from 2001 versus criteria from IDF 2005). Materials consisted of 155 males and 18 females with OSAS (mean AHI 44 ± 22 h-1), obesity (BMI 31.8 ± 5.0 kg/m2), aged 53.9 ± 9.3 years (mean ± SD). Serum lipids, glucose, body mass index (BMI), waist circumference (WC) and waist-to-hip ratio (WHR) were measured in all patients. According to first definition (NCEP - ATP III from 2001), MS was diagnosed in 98 patients (56% of the whole group - MS1 group) compared to 120 patients (69% of the whole group - MS2 group) diagnosed according to the second definition (IDF from 2005), p definition from 2005 of metabolic syndrome indeed increases the frequency of diagnosis of metabolic syndrome in patients with OSAS. We did not observe essential clinical correlation among the degree of OSAS severity and recognition of metabolic syndrome in the MS1 or in the MS2 group.

  3. Validation of a clinical screening instrument for tumour predisposition syndromes in patients with childhood cancer (TuPS) : Protocol for a prospective, observational, multicentre study

    NARCIS (Netherlands)

    Postema, Floor A M; Hopman, Saskia M J; De Borgie, Corianne A J M; Hammond, Peter; Hennekam, Raoul C.; Merks, Johannes H M; Aalfs, Cora M.; Anninga, Jakob K.; Berger, Lieke P V; Bleeker, Fonnet E.; De Bont, Eveline S J M; Dommering, Charlotte J.; Van Eijkelenburg, Natasha K A; Van Den Heuvel-Eibrink, Marry M.; Jongmans, Marjolijn C J; Kors, Wijnanda A.; Letteboer, Tom G W; Loeffen, Jan L C M; Olderode-Berends, Maran J W; Wagner, Anja

    2017-01-01

    Introduction: Recognising a tumour predisposition syndrome (TPS) in patients with childhood cancer is of significant clinical relevance, as it affects treatment, prognosis and facilitates genetic counselling. Previous studies revealed that only half of the known TPSs are recognised during standard

  4. [The Ogilvie syndrome in elderly patients with multimorbidity].

    Science.gov (United States)

    Tan, A C K; Olde Rikkert, M G M; Groenen, M J

    2014-06-01

    Two patients presented with the Ogilvie syndrome which is an acute colonic pseudo-obstruction without any mechanical obstruction. Both patients suffered from multiple medical conditions such as infections, electrolyte disturbances and functional decline.The Ogilvie syndrome is particularly seen in patients with multimorbidity who stay in the hospital or nursing home. The incidence of the Ogilvie syndrome will probably increase because of ageing of our population and will be most prevalent in the frail elderly. The precise mechanism of this disease is still unclear, but there is evidence in the literature that the aetiology is multifactorial and runs via autonomic dysregulation of the colon.Early recognition and appropriate treatment may reduce the risk of complications and limit mortality, also depending on the related comorbidity.

  5. Determination of periodontopathogens in patients with Cri du chat syndrome.

    Science.gov (United States)

    Ballesta-Mudarra, Sofía; Machuca-Portillo, Guillermo; Torres-Lagares, Daniel; Rodríguez-Caballero, Ángela; Yáñez-Vico, Rosa-María; Solano-Reina, Enrique; Perea-Pérez, Evelio

    2013-11-01

    Cri du chat syndrome is a genetic alteration associated with some oral pathologies. However, it has not been described previously any clinical relationship between the periodontal disease and the syndrome. The purpose of this comparative study was to compare periodontopathogenic flora in a group with Cri du chat syndrome and another without the síndrome, to assess a potential microbiological predisposition to suffer a periodontitis. The study compared nineteen subjects with Cri du chat Syndrome with a control group of nineteen patients without it. All patients were clinically evaluated by periodontal probing, valuing the pocket depth, the clinical attachmente level and bleeding on probing. There were no significant differences between both groups. Aggregatibacter actinomycetemcomitans, Porphyromonas gingivalis, Prevotella intermedia, Tannerella forsythia and Treponema denticola were detected by multiplex-PCR using 16S rDNA (microIDENT). When A. actinomycetemcomitans, P. gingivalis, P. intermedia and T. denticola were compared, no statistically significant differences were found between the two groups (p>0.05). The value of T. forsythia was significantly higher for Cri du chat syndrome (31.6%) than for the control group (5.3%). The odds ratio for T. forsythia was 8.3. In the present study T. forsythia is associated with Cri du chat syndrome subjects and not with healthy subjects.

  6. Frequency of metabolic syndrome in patients with type-2 diabetes

    International Nuclear Information System (INIS)

    Ahmed, N.; Ahmad, T.; Hussain, S.J.; Javed, M.

    2010-01-01

    Background: Diabetes, Hypertension, Obesity and Ischaemic Heart Disease have become a problem of public health magnitude with substantial economic burden both in the developed as well as the developing countries. Obesity is quite frequent in Type 2 diabetics and also plays a central role in causing Metabolic Syndrome (MetS). Metabolic Syndrome significantly increases the incidence of cardiovascular complications. This study was done to determine the frequency of MetS in our Type 2 diabetic patients as most of the components of MetS can be modified and identifying/managing these at an early stage might be of considerable help in reducing cardiovascular complications. Methods: This cross-sectional study was done in Medical B and Medical A wards of Ayub Teaching Hospital, Abbottabad from Nov, 08 to April, 09. Type 2 Diabetic patients aged above 40 years who gave informed consent were included in the study. Data was collected through a structured proforma. Frequency of Metabolic Syndrome was estimated according to the IDF consensus worldwide definition of the MetS. Results: Of the 100 patients enrolled in this study 56 were females and 44 were males with a mean age of 59.9 years. Out of these 100 participants seventy six (76%) were diagnosed to have metabolic syndrome. Of the 56 females, forty eight (85.71%) were having metabolic syndrome while twenty eight (63.63%) of the 44 male participants were having the syndrome. The difference was statistically significant (p<0.05). Conclusion: Frequency of MetS was found to be significantly high in this study with female preponderance. All the components, except Hypertension were more frequent in females. Diabetic patients with metabolic syndrome need more aggressive approach in management so as to decrease the incidence of cardiovascular complications. (author)

  7. The cellular phenotype of Roberts syndrome fibroblasts as revealed by ectopic expression of ESCO2.

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    Petra van der Lelij

    Full Text Available Cohesion between sister chromatids is essential for faithful chromosome segregation. In budding yeast, the acetyltransferase Eco1/Ctf7 establishes cohesion during DNA replication in S phase and in response to DNA double strand breaks in G2/M phase. In humans two Eco1 orthologs exist: ESCO1 and ESCO2. Both proteins are required for proper sister chromatid cohesion, but their exact function is unclear at present. Since ESCO2 has been identified as the gene defective in the rare autosomal recessive cohesinopathy Roberts syndrome (RBS, cells from RBS patients can be used to elucidate the role of ESCO2. We investigated for the first time RBS cells in comparison to isogenic controls that stably express V5- or GFP-tagged ESCO2. We show that the sister chromatid cohesion defect in the transfected cell lines is rescued and suggest that ESCO2 is regulated by proteasomal degradation in a cell cycle-dependent manner. In comparison to the corrected cells RBS cells were hypersensitive to the DNA-damaging agents mitomycin C, camptothecin and etoposide, while no particular sensitivity to UV, ionizing radiation, hydroxyurea or aphidicolin was found. The cohesion defect of RBS cells and their hypersensitivity to DNA-damaging agents were not corrected by a patient-derived ESCO2 acetyltransferase mutant (W539G, indicating that the acetyltransferase activity of ESCO2 is essential for its function. In contrast to a previous study on cells from patients with Cornelia de Lange syndrome, another cohesinopathy, RBS cells failed to exhibit excessive chromosome aberrations after irradiation in G2 phase of the cell cycle. Our results point at an S phase-specific role for ESCO2 in the maintenance of genome stability.

  8. Restless legs syndrome in post-polio syndrome: a series of 10 patients with demographic, clinical and laboratorial findings.

    Science.gov (United States)

    Marin, Luis F; Carvalho, Luciane B C; Prado, Lucila B F; Quadros, Abrahao A J; Oliveira, Acary S; Prado, Gilmar F

    2011-08-01

    Few studies have described the occurrence of restless legs syndrome in post-polio syndrome. We studied 10 consecutive patients with post-polio syndrome and symptoms of restless legs syndrome. We look at demographic, clinical and laboratorial data. A remarkable finding was the concomitant onset of symptoms of both diseases, suggesting a possible underlying mechanism. Severity of restless legs symptoms was moderate to very severe. Epidemiological studies with larger samples are needed to better establish the relationship and the incidence of restless legs syndrome in post-polio syndrome. Copyright © 2011 Elsevier Ltd. All rights reserved.

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

    Science.gov (United States)

    Paolucci, Denise Gruccio; Bamba, Vaneeta

    2017-06-01

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

  10. Original article patterns of tooth agenesis in patients with Crouzon or Apert syndrome

    OpenAIRE

    Reitsma, Jacobus Harmen; Ongkosuwito, Edwin; Wijk, Arjen; Prahl-Andersen, B.

    2014-01-01

    textabstractPurpose: Dental agenesis is the most common anomaly of dental development and can be a component of a congenital syndrome. The purpose of this study was to evaluate the prevalence of agenesis and to describe patterns of tooth agenesis in patients with Crouzon or Apert syndrome compared with nonsyndromic controls. Patients and Methods: Longitudinal records of 67 patients with Crouzon syndrome (n=39) or Apert syndrome (n = 28) from the Erasmus Medical Centre were examined. Syndromic...

  11. Assessment of Sexual Dysfunction in Patients with Fibromyalgia Syndrome

    Directory of Open Access Journals (Sweden)

    Rahime Nur Ülker

    2013-12-01

    Full Text Available Objectives: The aim of our study is to determine the presence, quality of sexual dysfunction in patients with fibromyalgia syndrome and to compare with normal population. Material and Methods: A total of 55 sexually active women who were admitted to Department of Physical Therapy and Rehabilitation of Antalya Research and Training Hospital and diagnosed with fibromyalgia syndrome according to 1990 and 2010 American College of Rheumatology (ACR criteria. A control group composed of 50 sexually active women who were admitted to our clinic with various musculoskeletal system complaints were also included in the study in order to compare the parameters used for clinical assessment of patients and to determine whether the patients differ from normal population. Patients and controls who met inclusion criteria were applied Female Sexual Function Index (FSFI for assessment of sexual function. This test was developed by Rosen and colleagues in 2000, it is composed of 19 questions and inquires six different dimensions including desire, arousal, lubrication, orgasm, sexual satisfaction and pain. Turkish validation test was done by Turkish Society Of Andrology in 2003, answers are multiplied with a coefficient and each section is evaluated on six scores. Minimum score is 2.4 and maximum is 36 and standardly used for assessment of female sexual dysfunction in Turkey. Results: Subscale and total score of Female Sexual Function Index of Fibromyalgia syndrome patients were found statistically significantly lower than those of control group (p<0.05. Conclusion: Disorders of sexual function or its quality are one of the problems seen in fibromyalgia syndrome patients. It should be noticed that sexual function assessment must be a part of treatment of fibromyalgia syndrome. It is quite difficult to determine the mechanism between sexual dysfunction and fibromyalgia syndrome and new and larger studies are needed to determine this mechanism. (Turkish Journal of

  12. Inflammation aggravates disease severity in Marfan syndrome patients.

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    Teodora Radonic

    Full Text Available BACKGROUND: Marfan syndrome (MFS is a pleiotropic genetic disorder with major features in cardiovascular, ocular and skeletal systems, associated with large clinical variability. Numerous studies reveal an involvement of TGF-β signaling. However, the contribution of tissue inflammation is not addressed so far. METHODOLOGY/PRINCIPAL FINDINGS: Here we showed that both TGF-β and inflammation are up-regulated in patients with MFS. We analyzed transcriptome-wide gene expression in 55 MFS patients using Affymetrix Human Exon 1.0 ST Array and levels of TGF-β and various cytokines in their plasma. Within our MFS population, increased plasma levels of TGF-β were found especially in MFS patients with aortic root dilatation (124 pg/ml, when compared to MFS patients with normal aorta (10 pg/ml; p = 8×10(-6, 95% CI: 70-159 pg/ml. Interestingly, our microarray data show that increased expression of inflammatory genes was associated with major clinical features within the MFS patients group; namely severity of the aortic root dilatation (HLA-DRB1 and HLA-DRB5 genes; r = 0.56 for both; False Discovery Rate(FDR = 0%, ocular lens dislocation (RAET1L, CCL19 and HLA-DQB2; Fold Change (FC = 1.8; 1.4; 1.5, FDR = 0% and specific skeletal features (HLA-DRB1, HLA-DRB5, GZMK; FC = 8.8, 7.1, 1.3; FDR = 0%. Patients with progressive aortic disease had higher levels of Macrophage Colony Stimulating Factor (M-CSF in blood. When comparing MFS aortic root vessel wall with non-MFS aortic root, increased numbers of CD4+ T-cells were found in the media (p = 0.02 and increased number of CD8+ T-cells (p = 0.003 in the adventitia of the MFS patients. CONCLUSION/SIGNIFICANCE: In conclusion, our results imply a modifying role of inflammation in MFS. Inflammation might be a novel therapeutic target in these patients.

  13. Abdominal compartment syndrome in patients with strangulated hernia.

    Science.gov (United States)

    Beltrán, M A; Villar, R A; Cruces, K S

    2008-12-01

    Intestinal obstruction (IO) leads to increased intra-abdominal pressure and abdominal compartment syndrome. The purpose of this study was to investigate the characteristics of abdominal compartment syndrome in patients with IO secondary to strangulated hernia. We studied 81 consecutive unselected patients presenting complicated hernias and IO. We measured intra-abdominal pressure using the intra-vesicular pressure method. Preoperative (15 min) intra-abdominal pressure was higher in patients with strangulated hernias. Postoperative (15 min) intra-abdominal pressure in both groups decreased to similar values. Intra-abdominal pressure was measured during the preoperative period in patients with strangulated hernias and during the postoperative period at 15 min (13.8 +/- 6.4 mmHg), 24 h (9.8 +/- 3.2 mmHg) and 48 h (7.4 +/- 2.4 mmHg). Abdominal compartment syndrome developed in 47% cases with strangulated hernias with a mortality of five patients. Serial measurements of intra-abdominal pressure evidenced the clinical severity of strangulated hernia. Intra-abdominal pressure measurement may be used as a predictor of intestinal strangulation in patients presenting acute abdominal compartment syndrome secondary to complicated hernia.

  14. Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.

    Science.gov (United States)

    Hino-Fukuyo, Naomi; Kikuchi, Atsuo; Arai-Ichinoi, Natsuko; Niihori, Tetsuya; Sato, Ryo; Suzuki, Tasuku; Kudo, Hiroki; Sato, Yuko; Nakayama, Tojo; Kakisaka, Yosuke; Kubota, Yuki; Kobayashi, Tomoko; Funayama, Ryo; Nakayama, Keiko; Uematsu, Mitsugu; Aoki, Yoko; Haginoya, Kazuhiro; Kure, Shigeo

    2015-06-01

    West syndrome, which is narrowly defined as infantile spasms that occur in clusters and hypsarrhythmia on EEG, is the most common early-onset epileptic encephalopathy (EOEE). Patients with West syndrome may have clear etiologies, including perinatal events, infections, gross chromosomal abnormalities, or cases followed by other EOEEs. However, the genetic etiology of most cases of West syndrome remains unexplained. DNA from 18 patients with unexplained West syndrome was subjected to microarray-based comparative genomic hybridization (array CGH), followed by trio-based whole-exome sequencing in 14 unsolved families. We identified candidate pathogenic variants in 50% of the patients (n = 9/18). The array CGH revealed candidate pathogenic copy number variations in four cases (22%, 4/18), including an Xq28 duplication, a 16p11.2 deletion, a 16p13.1 deletion and a 19p13.2 deletion disrupting CACNA1A. Whole-exome sequencing identified candidate mutations in known epilepsy genes in five cases (36%, 5/14). Three candidate de novo mutations were identified in three cases, with two mutations occurring in two new candidate genes (NR2F1 and CACNA2D1) (21%, 3/14). Hemizygous candidate mutations in ALG13 and BRWD3 were identified in the other two cases (14%, 2/14). Evaluating a panel of 67 known EOEE genes failed to identify significant mutations. Despite the heterogeneity of unexplained West syndrome, the combination of array CGH and whole-exome sequencing is an effective means of evaluating the genetic background in unexplained West syndrome. We provide additional evidence for NR2F1 as a causative gene and for CACNA2D1 and BRWD3 as candidate genes for West syndrome.

  15. Similar Connotation in Chronic Hepatitis B and Nonalcoholic Fatty Liver Patients with Dampness-Heat Syndrome

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    Jianye Dai

    2013-01-01

    Full Text Available The phenomenon that the same syndrome turns up in different diseases appears in the sight of people around the world, which raises the thought for possibility of “Same Treatment for Different Diseases.” Actually, treatment based on ZHENG classification in Traditional Chinese Medicine could bring revelation for the former finding. The dampness-heat syndrome in chronic hepatitis B and nonalcoholic fatty liver is regarded as the breakthrough point. We discussed the molecular mechanism of similar connotation that exists in chronic hepatitis B and nonalcoholic fatty liver by metabonomics to give the modern understanding of dampness-heat syndrome. Both urine and serum metabolic profiling revealed that obvious differences existed between dampness-heat syndrome and non-dampness-heat syndrome but the commonality was proved to appear in chronic hepatitis B and nonalcoholic fatty liver patients with dampness-heat syndrome. Furthermore, disorder of body fluid metabolism, decline in digestive capacity, and imbalance of intestinal flora were found to be the new guiding for treatment, with the hope to provide the basis for Chinese personalized medicine.

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

    Science.gov (United States)

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

    2011-09-01

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

  17. Acute aortic dissection mimics acute inferoposterior wall myocardial infarction in a Marfan syndrome patient

    OpenAIRE

    Phowthongkum, Prasit

    2010-01-01

    A 30-year old man with acute chest pain was diagnosed with acute inferoposterior wall myocardial infarction following electrocardiography. After a failed coronary angiography, an echocardiogram revealed an aortic intimal flap after which acute aortic dissection was diagnosed. The patient received a successful Bentall operation without immediate complication. Retrospective examination then confirmed the diagnosis of Marfan syndrome. This case demonstrates acute aortic dissection may mimic acut...

  18. Acute aortic dissection mimics acute inferoposterior wall myocardial infarction in a Marfan syndrome patient.

    Science.gov (United States)

    Phowthongkum, Prasit

    2010-01-01

    A 30-year old man with acute chest pain was diagnosed with acute inferoposterior wall myocardial infarction following electrocardiography. After a failed coronary angiography, an echocardiogram revealed an aortic intimal flap after which acute aortic dissection was diagnosed. The patient received a successful Bentall operation without immediate complication. Retrospective examination then confirmed the diagnosis of Marfan syndrome. This case demonstrates acute aortic dissection may mimic acute myocardial infarction.

  19. Cushing's syndrome due to pharmacological interaction in a cystic fibrosis patient

    DEFF Research Database (Denmark)

    Main, K M; Skov, M; Sillesen, Ida Blok

    2002-01-01

    and 1,600 microg budesonide. The patient experienced symptoms of striae, moon-face, increased facial hair growth, mood swings, headaches, weight gain, irregular menstruation despite oral contraceptives and increasing insulin requirement for diabetes mellitus. Endocrine investigations revealed total...... and budesonide inhalation should be monitored regularly for adrenal insufficiency. This may be the first indicator of increased systemic exogenous steroid concentration, before clinical signs of Cushing's syndrome emerge....

  20. Carpal tunnel syndrome in patient with hemihypertrophy: case report.

    Science.gov (United States)

    Shimoe, Takashi; Taniguchi, Yasunori; Yoshida, Munehito

    2013-01-01

    Carpal tunnel syndrome is a common condition; however, it has not been previously reported in patients with hemihypertrophy. A 67-year-old woman with left-sided hemihypertrophy presented with carpal tunnel syndrome of the left hand. Magnetic resonance imaging showed enlargement of the median nerve proximal to the transverse carpal ligament. Carpal tunnel decompression was performed, and pain was immediately relieved by decompression of the carpal tunnel. At the six-month follow-up examination, the patient experienced relief from numbness and improvement in thenar muscle atrophy was noted.

  1. Airway Management in a Patient with Wolf-Hirschhorn Syndrome.

    Science.gov (United States)

    Gamble, John F; Kurian, Dinesh J; Udani, Andrea G; Greene, Nathaniel H

    2016-01-01

    We present a case of a 3-month-old female with Wolf-Hirschhorn syndrome (WHS) undergoing general anesthesia for laparoscopic gastrostomy tube placement with a focus on airway management. WHS is a rare 4p microdeletion syndrome resulting in multiple congenital abnormalities, including craniofacial deformities. Microcephaly, micrognathia, and glossoptosis are common features in WHS patients and risk factors for a pediatric airway that is potentially difficult to intubate. We discuss anesthesia strategies for airway preparation and management in a WHS patient requiring general anesthesia with endotracheal intubation.

  2. Airway Management in a Patient with Wolf-Hirschhorn Syndrome

    Directory of Open Access Journals (Sweden)

    John F. Gamble

    2016-01-01

    Full Text Available We present a case of a 3-month-old female with Wolf-Hirschhorn syndrome (WHS undergoing general anesthesia for laparoscopic gastrostomy tube placement with a focus on airway management. WHS is a rare 4p microdeletion syndrome resulting in multiple congenital abnormalities, including craniofacial deformities. Microcephaly, micrognathia, and glossoptosis are common features in WHS patients and risk factors for a pediatric airway that is potentially difficult to intubate. We discuss anesthesia strategies for airway preparation and management in a WHS patient requiring general anesthesia with endotracheal intubation.

  3. Effectiveness of Rehabilitation for Patients with Subacromial Impingement Syndrome

    Science.gov (United States)

    Sauers, Eric L

    2005-01-01

    Reference: Michener LA, Walsworth MK, Burnet EN. Effectiveness of rehabilitation for patients with subacromial impingement syndrome: a systematic review. J Hand Ther. 2004;17: 152–164. Clinical Question: Which physical rehabilitation techniques are effective in reducing pain and functional loss for patients with subacromial impingement syndrome (SAIS)? Data Sources: Investigations were identified by MEDLINE, Cumulative Index to Nursing and Allied Health Literature (CINAHL), and Cochrane Central Register of Controlled Trials Register searches from 1966 through October 2003 and by hand searching the references of all retrieved articles and relevant conference proceedings. The search terms were shoulder, shoulder impingement syndrome, bursitis, and rotator cuff combined with rehabilitation, physical therapy, electrotherapy, ultrasound, exercise, and acupuncture and limited to clinical trial, random assignment, or placebo. Study Selection: Inclusion criteria involved randomized controlled trials or clinical trials comparing nonsurgical, nonpharmacologic physical interventions for patients with SAIS with another intervention, no treatment, or a placebo treatment. Included studies required clinically relevant and well-described outcome measures of pain, disability, or functional loss. The study was limited to adult patients who met specific inclusion criteria for the signs and symptoms of SAIS and exclusion criteria for systemic impairment, cervical involvement, degenerative joint changes, clinical findings of other shoulder injury, previous history of surgery or physical therapy treatment, and workers' compensation claim/litigation. Data Extraction: A 23-item checklist, with each item assigned 0, 1, or 2 quality points for a total of 46 possible points, was used independently by 2 examiners to assess each study. In their original report, Michener et al stated that the 23-item checklist was worth a possible 69 points. However, in a conversation with L. A. Michener, she

  4. 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.

  5. Non-cardiac issues in patients with heterotaxy syndrome

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    Shyam S Kothari

    2014-01-01

    Full Text Available Management of complex congenital heart disease in patients with Heterotaxy syndrome (HS has steadily improved. However, there is an insufficient appreciation of various non-cardiac issues that might impact the overall status of these patients. This article briefly reviews the implications of gastrointestinal, immunologic, genitourinary, respiratory, and central nervous system involvement in HS patients with a view to aid in their comprehensive clinical management.

  6. Computed tomography in patients with Ehlers-Danlos syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Hagino, Hiroshi; Sugitani, Akitoshi; Eda, Isematsu; Takashima, Sachio; Takeshita, Kenzo

    1985-09-01

    Three patients with Ehlers-Danlos syndrome were reported. Unusual findings on computed tomography were seen in two of the three patients. One case showed peculiar and marked dilatation of the 4th ventricle, supracerebellar cistern and lateral ventricle. The other case presented disproportionate enlargement of the anterior horn of the lateral ventricle. These CT findings in the two patients suggest that developmental abnormalities may constitute a structural defect.

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

    Science.gov (United States)

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

    2015-06-01

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

  8. [Diverse histological lesions in a patient with antiphospholipid syndrome (APS)].

    Science.gov (United States)

    Salvatore, Ermanno; Luciani, Remo; Di Palma, Annamaria; Aversano, Arturo; Stellato, Davide; Liuzzi, Marco; Iele, Emilio; Martignetti, Vinicio; Spagnuolo, Enrico; Morrone, Luigi

    2011-01-01

    Antiphospholipid syndrome (APS) is a rare autoimmune disorder. It can be secondary to systemic lupus erythematosus (SLE) or occur in the absence of autoimmune disease. The hallmark of this so-called primary APS is the presence of circulating antiphospholipid antibodies. Renal involvement in primary APS is caused by thrombosis within the renal vasculature. Recently, nonthrombotic glomerulonephritic renal lesions have been described in primary APS as a new histological entity. We here report a patient with primary APS in whom both lesion types were present. A 58-year-old Caucasian man with no significant past medical history presented to our nephrology unit with diffuse edema. Urinalysis showed proteinuria exceeding 400 mg/dL. The autoantibody panel (p-ANCA, c- ANCA, anti-nucleus, anti-DS-DNA) was negative except for anticardiolipin antibodies, which tested positive in two different samples. The diagnostic workup included a kidney biopsy that revealed thrombotic lesions compatible with primary APS and a typical pattern of focal segmental glomerulosclerosis. The kidney is a major target in APS but the exact mechanism underlying the pathogenesis of APS nephropathy has been poorly recognized. The use of kidney biopsy is a fundamental diagnostic tool in this setting, with possible implications also from a prognostic and therapeutic viewpoint.

  9. Cytochrome C oxydase deficiency: SURF1 gene investigation in patients with Leigh syndrome.

    Science.gov (United States)

    Maalej, Marwa; Kammoun, Thouraya; Alila-Fersi, Olfa; Kharrat, Marwa; Ammar, Marwa; Felhi, Rahma; Mkaouar-Rebai, Emna; Keskes, Leila; Hachicha, Mongia; Fakhfakh, Faiza

    2018-03-18

    Leigh syndrome (LS) is a rare progressive neurodegenerative disorder occurring in infancy. The most common clinical signs reported in LS are growth retardation, optic atrophy, ataxia, psychomotor retardation, dystonia, hypotonia, seizures and respiratory disorders. The paper reported a manifestation of 3 Tunisian patients presented with LS syndrome. The aim of this study is the MT[HYPHEN]ATP6 and SURF1 gene screening in Tunisian patients affected with classical Leigh syndrome and the computational investigation of the effect of detected mutations on its structure and functions by clinical and bioinformatics analyses. After clinical investigations, three Tunisian patients were tested for mutations in both MT-ATP6 and SURF1 genes by direct sequencing followed by in silico analyses to predict the effects of sequence variation. The result of mutational analysis revealed the absence of mitochondrial mutations in MT-ATP6 gene and the presence of a known homozygous splice site mutation c.516-517delAG in sibling patients added to the presence of a novel double het mutations in LS patient (c.752-18 A > C/c. c.751 + 16G > A). In silico analyses of theses intronic variations showed that it could alters splicing processes as well as SURF1 protein translation. Leigh syndrome (LS) is a rare progressive neurodegenerative disorder occurring in infancy. The most common clinical signs reported in LS are growth retardation, optic atrophy, ataxia, psychomotor retardation, dystonia, hypotonia, seizures and respiratory disorders. The paper reported a manifestation of 3 Tunisian patients presented with LS syndrome. The aim of this study is MT-ATP6 and SURF1 genes screening in Tunisian patients affected with classical Leigh syndrome and the computational investigation of the effect of detected mutations on its structure and functions. After clinical investigations, three Tunisian patients were tested for mutations in both MT-ATP6 and SURF1 genes by direct sequencing followed by in

  10. Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism.

    Science.gov (United States)

    Amitrano, Sara; Marozza, Annabella; Somma, Serena; Imperatore, Valentina; Hadjistilianou, Theodora; De Francesco, Sonia; Toti, Paolo; Galimberti, Daniela; Meloni, Ilaria; Cetta, Francesco; Piu, Pietro; Di Marco, Chiara; Dosa, Laura; Lo Rizzo, Caterina; Carignani, Giulia; Mencarelli, Maria Antonietta; Mari, Francesca; Renieri, Alessandra; Ariani, Francesca

    2015-11-01

    In about 50% of sporadic cases of retinoblastoma, no constitutive RB1 mutations are detected by conventional methods. However, recent research suggests that, at least in some of these cases, there is somatic mosaicism with respect to RB1 normal and mutant alleles. The increased availability of next generation sequencing improves our ability to detect the exact percentage of patients with mosaicism. Using this technology, we re-tested a series of 40 patients with sporadic retinoblastoma: 10 of them had been previously classified as constitutional heterozygotes, whereas in 30 no RB1 mutations had been found in lymphocytes. In 3 of these 30 patients, we have now identified low-level mosaic variants, varying in frequency between 8 and 24%. In 7 out of the 10 cases previously classified as heterozygous from testing blood cells, we were able to test additional tissues (ocular tissues, urine and/or oral mucosa): in three of them, next generation sequencing has revealed mosaicism. Present results thus confirm that a significant fraction (6/40; 15%) of sporadic retinoblastoma cases are due to postzygotic events and that deep sequencing is an efficient method to unambiguously distinguish mosaics. Re-testing of retinoblastoma patients through next generation sequencing can thus provide new information that may have important implications with respect to genetic counseling and family care.

  11. Patient with pontine warning syndrome and bilateral posterior internuclear ophthalmoplegia: case report

    Directory of Open Access Journals (Sweden)

    Su Li

    2010-06-01

    Full Text Available Abstract Background Capsular warning syndrome was first described in 1993, featured with repetitive episodes of motor and/or sensory dysfunction without cortical signs. Recently, it has been demonstrated that clinically typical capsular warning syndrome can be associated with pontine infarct and the term “pontine warning syndrome� was coined. Case Presentation A 54-year-old woman with a history of hypertension was seen with profound left-sided hemiplegia. She had had 3 episodes of left-sided weakness before complete hemiplegia. Her speech was slurred. Left central facial palsy and hemiglossoplegia were presented. Her left plantar response was extensor and bilateral posterior internuclear ophthalmoplegia was seen on neurologic examination. Biochemical tests revealed hyperglycemia and dyslipidemia on the next day. MRI demonstrated an acute right paramedian pontine infarct. The patient was commenced on oral clopidogrel, atorvastatin and acarbose. After 23 days of hospitalization, she was discharged with severe left hemiplegia. Conclusions 1 Pontine warning syndrome may be underestimated and understudied. 2 Posterior internuclear ophthalmoplegia is a rare clinical sign in cerebrovascular diseases, while it can help to locate a brainstem lesion rather than an internal capsular one. 3 Blood pressure lowing administration may be improper for patients with pontine warning syndrome.

  12. Total Endovascular Aortic Repair in a Patient with Marfan Syndrome.

    Science.gov (United States)

    Amako, Mau; Spear, Rafaëlle; Clough, Rachel E; Hertault, Adrien; Azzaoui, Richard; Martin-Gonzalez, Teresa; Sobocinski, Jonathan; Haulon, Stéphan

    2017-02-01

    The aim of this study is to describe a total endovascular aortic repair with branched and fenestrated endografts in a young patient with Marfan syndrome and a chronic aortic dissection. Open surgery is the gold standard to treat aortic dissections in patients with aortic disease and Marfan syndrome. In 2000, a 38-year-old man with Marfan syndrome underwent open ascending aorta repair for an acute type A aortic dissection. One year later, a redo sternotomy was performed for aortic valve replacement. In 2013, the patient presented with endocarditis and pulmonary infection, which necessitated tracheostomy and temporary dialysis. In 2014, the first stage of the endovascular repair was performed using an inner branched endograft to exclude a 77-mm distal arch and descending thoracic aortic aneurysm. In 2015, a 63-mm thoracoabdominal aortic aneurysm was excluded by implantation of a 4-fenestrated endograft. Follow-up after both endovascular repairs was uneventful. Total aortic endovascular repair was successfully performed to treat a patient with arch and thoraco-abdominal aortic aneurysm associated with chronic aortic dissection and Marfan syndrome. The postoperative images confirmed patency of the endograft and its branches, and complete exclusion of the aortic false lumen. Endovascular repair is a treatment option in patients with connective tissue disease who are not candidates for open surgery. Long-term follow-up is required to confirm these favorable early outcomes. Copyright © 2016 Elsevier Inc. All rights reserved.

  13. A patient with Werner syndrome and adiponectin gene mutation.

    Science.gov (United States)

    Hashimoto, Naotake; Hatanaka, Sachiko; Yokote, Koutaro; Kurosawa, Hiroko; Yoshida, Tomohiko; Iwai, Rie; Takahashi, Hidenori; Yoshida, Katsuya; Horie, Atsuya; Sakurai, Kenichi; Yagui, Kazuo; Saito, Yasushi; Yoshida, Shouji

    2007-01-01

    Werner syndrome is a premature aging disease characterized by genomic instability and increased cancer risk. Here, we report a 45-year-old diabetic man as the first Werner syndrome patient found to have an adiponectin gene mutation. Showing graying and loss of hair, skin atrophy, and juvenile cataract, he was diagnosed with Werner syndrome type 4 by molecular analysis. His serum adiponectin concentration was low. In the globular domain of the adiponectin gene, I164T in exon 3 was detected. When we examined effects of pioglitazone (15 mg/day) on serum adiponectin multimer and monomer concentrations using selective assays, the patient's relative percentage increased in adiponectin concentration was almost same as that in the 18 diabetic patients without an adiponectin mutation, but the absolute adiponectin concentration was half of those seen in diabetic patients treated with the same pioglitazone dose who had no adiponectin mutation. The response suggested that pioglitazone treatment might help to prevent future Werner syndrome-related acceleration of atherosclerosis. Present and further clinical relevant to atherosclerosis in this patient should be imformative concerning the pathogenesis and treatment of atherosclerosis in the presence of hypoadiponectinemia and insulin resistance.

  14. Capgras syndrome associated with limbic encephalitis in a patient with diffuse large B-cell lymphoma

    Directory of Open Access Journals (Sweden)

    Herval Ribeiro Soares Neto

    Full Text Available We report the case of a patient with insidious onset and slowly progressive cognitive impairment, behavioral symptoms, temporal lobe seizures and delusional thoughts typical of delusional misidentification syndromes. Clinical presentation along with extensive diagnostic work-up revealed limbic encephalitis secondary to diffuse large B-cell lymphoma. The patient underwent immunotherapy with high-dose corticosteroid but no significant improvement was observed. No specific treatment for lymphoma was performed because the patient died of septic shock following a nosocomial respiratory infection. Delusional misidentification syndromes are an unusual and unique form of cognitive impairment in which a patient consistently misidentifies persons, places, objects, or events. Capgras syndrome is the most common subtype of this disorder, being defined by the recurrent and transient belief that someone close has been substituted by an imposter. These entities are generally associated with neurodegenerative diseases and psychiatric disturbances. Rare reports of associations between misidentification syndromes and autoimmune diseases such as multiple sclerosis have been published, but no papers address a correlation with limbic encephalitis or lymphoma.

  15. Capgras syndrome associated with limbic encephalitis in a patient with diffuse large B-cell lymphoma.

    Science.gov (United States)

    Soares, Herval Ribeiro; Cavalcante, Wagner Cid Palmeira; Martins, Sebastião Nunes; Smid, Jerusa; Nitrini, Ricardo

    2016-01-01

    We report the case of a patient with insidious onset and slowly progressive cognitive impairment, behavioral symptoms, temporal lobe seizures and delusional thoughts typical of delusional misidentification syndromes. Clinical presentation along with extensive diagnostic work-up revealed limbic encephalitis secondary to diffuse large B-cell lymphoma. The patient underwent immunotherapy with high-dose corticosteroid but no significant improvement was observed. No specific treatment for lymphoma was performed because the patient died of septic shock following a nosocomial respiratory infection. Delusional misidentification syndromes are an unusual and unique form of cognitive impairment in which a patient consistently misidentifies persons, places, objects, or events. Capgras syndrome is the most common subtype of this disorder, being defined by the recurrent and transient belief that someone close has been substituted by an imposter. These entities are generally associated with neurodegenerative diseases and psychiatric disturbances. Rare reports of associations between misidentification syndromes and autoimmune diseases such as multiple sclerosis have been published, but no papers address a correlation with limbic encephalitis or lymphoma.

  16. The comorbidity of reduplicative paramnesia, intermetamorphosis, reverse-intermetamorphosis, misidentification of reflection, and capgras syndrome in an adolescent patient.

    Science.gov (United States)

    Arısoy, Ozden; Tufan, A Evren; Bilici, Rabia; Taskiran, Sarper; Topal, Zehra; Demir, Nuran; Cansız, M Akif

    2014-01-01

    Delusional misidentification syndromes may be superimposed on neurological or psychiatric disorders and include delusional beliefs that the people, objects, or places around the patient change or are made to change with one another. In this paper, an adolescent patient displaying Capgras syndrome, metamorphosis, reverse-intermetamorphosis, misidentification of reflection, and reduplicative paramnesia was presented. The findings that our patient struggled with visuospatial tests applied in the acute phase as well as the observation that she refused to meet her family face-to-face while accepting to speak on the phone may support the role of right hemisphere and visuospatial functions in the development of those syndromes. Further studies or case series evaluated more extensively are needed to reveal the relationship between right hemisphere functions and delusional misidentification syndromes.

  17. The Comorbidity of Reduplicative Paramnesia, Intermetamorphosis, Reverse-Intermetamorphosis, Misidentification of Reflection, and Capgras Syndrome in an Adolescent Patient

    Directory of Open Access Journals (Sweden)

    Ozden Arısoy

    2014-01-01

    Full Text Available Delusional misidentification syndromes may be superimposed on neurological or psychiatric disorders and include delusional beliefs that the people, objects, or places around the patient change or are made to change with one another. In this paper, an adolescent patient displaying Capgras syndrome, metamorphosis, reverse-intermetamorphosis, misidentification of reflection, and reduplicative paramnesia was presented. The findings that our patient struggled with visuospatial tests applied in the acute phase as well as the observation that she refused to meet her family face-to-face while accepting to speak on the phone may support the role of right hemisphere and visuospatial functions in the development of those syndromes. Further studies or case series evaluated more extensively are needed to reveal the relationship between right hemisphere functions and delusional misidentification syndromes.

  18. Characterization of thrombosis in patients with Proteus syndrome.

    Science.gov (United States)

    Keppler-Noreuil, Kim M; Lozier, Jay N; Sapp, Julie C; Biesecker, Leslie G

    2017-09-01

    Patients with overgrowth and complex vascular malformation syndromes, including Proteus syndrome have an increased risk of thromboembolism. Proteus syndrome is a mosaic, progressive overgrowth disorder involving vasculature, skin, and skeleton, and caused by a somatic activating mutation in AKT1. We conducted a comprehensive review of the medical histories and hematologic evaluations of 57 patients with Proteus syndrome to identify potential risk factors for thrombosis. We found that six of ten patients, who were deceased, died secondary to deep venous thrombosis and/or pulmonary embolism. Of the remaining 47 living patients, six had thromboembolic events that all occurred postoperatively and in an affected limb. Eleven of 21 patients had an abnormal hypercoagulable panel including Factor V Leiden heterozygotes, antithrombin III deficiency, positive lupus anticoagulant, or Protein C or S deficiencies. We observed that eight of 17 patients had an abnormal D-dimer level >0.5 mcg/dl, but deep venous thromboses occurred in only four of those with D-dimer >1.0 mcg/dl. We conclude that the predisposition to thrombosis is likely to be multifaceted with risk factors including vascular malformations, immobility, surgery, additional prothrombotic factors, and possible pathophysiologic effects of the somatic AKT1 mutation on platelet function or the vascular endothelium. The D-dimer test is useful as a screen for thromboembolism, although the screening threshold may need to be adjusted for patients with this disorder. We propose developing a registry to collect D-dimer and outcome data to facilitate adjustment of the D-dimer threshold for Proteus syndrome and related disorders, including PIK3CA-Related Overgrowth Spectrum. © 2017 Wiley Periodicals, Inc.

  19. Myelography in patients with acquired immuno deficiency syndrome

    International Nuclear Information System (INIS)

    Borgstein, B.J.; Koster, P.A.; Peeters, F.L.M.; Portegies, P.

    1989-01-01

    Neurological complications in patients with Acquired Immuno Deficiency Syndrome (AIDS) are frequent and in addition to central nervous system syndromes, involvement of the peripheral nervous system is increasingly seen. We evaluated the indications and results of myelographic examination in six AIDS-patients with signs of peripheral nervous system disease, out of 200 AIDS-patients with neurological complications. Five of these patients had a polyradiculopathy, with proven cytomegalovirus (CMV) infection in four cases. There were two abnormal myelographic examinations with findings of cauda equina nerve root involvement, both in patients with proven CMV-polyradiculopathy. These abnormal findings had no direct therapeutic consequences. Myelography is not essential for establishing the diagnosis, which is based on cerebrospinal fluid (CSF) analysis, but may be indicated to exclude a spinal cord or nerve root compressive lesion. (orig.)

  20. Quantitative Sensory Testing in Patients With Postthoracotomy Pain Syndrome

    DEFF Research Database (Denmark)

    Wildgaard, Kim; Ringsted, Thomas K; Kehlet, Henrik

    2013-01-01

    was demonstrated, the much lower within-patient than between-patient variances facilitated estimations of highly statistical significant, within-patient differences in thermal thresholds. DISCUSSION:: In patients with postthoracotomy pain syndrome, several statistical methods indicated an excessively high......-retest variability of thermal thresholds in patients (n=14) with the postthoracotomy pain syndrome. METHODS:: Sensory mapping with a metal roller (25°C) on the surgical side delineated an area with cool sensory dysfunction. In this area and in a contralateral area, 4 prespecified sites (2.6 cm) were outlined......, in addition to the maximum pain site on the surgical side. In these total 9 sites, warmth detection threshold, cool detection threshold, and heat pain threshold were assessed. RESULTS:: Comparisons of thermal test-retest assessments did not demonstrate any significant intraside differences. The SDs...

  1. Decreased sweating in seven patients with Laron syndrome

    DEFF Research Database (Denmark)

    Main, K M; Price, D A; Savage, M O

    1993-01-01

    Previous studies have shown that sweat secretion was reduced in patients with GH deficiency and increased during GH treatment, indicating an influence of GH on sweat gland function. Thus, patients with GH deficiency have impaired thermoregulation. We report on sweat secretion rates (SSRs) in seven...... patients with Laron syndrome, measured by pilocarpine iontophoresis. The patients had significantly lower SSRs than healthy children matched for sex and pubertal stage (P ...). These observations further supported the hypothesis that sweat gland function in humans is under the influence of the GH-insulin-like growth factor-I axis. It remains to be seen whether the decrease in SSR also leads to altered thermoregulation in patients with Laron syndrome....

  2. Prognosis of patients treated for Cushing syndrome.

    Science.gov (United States)

    Aulinas, Anna; Valassi, Elena; Webb, Susan M

    2014-01-01

    Cushing syndrome (CS), due to an ACTH-secreting pituitary adenoma, adrenal tumors, or ectopic ACTH secretion, causes hypercortisolism. CS is associated with major morbidity, especially metabolic and cardiovascular complications, osteoporosis, psychiatric changes, and cognitive impairment. Despite biochemical "cure" of hypercortisolism and clinical improvement after effective treatment, these complications are only partially reversible. Exacerbation of prior autoimmune diseases is also seen. All of these lead to quality of life impairment and increased mortality. This review addresses the main comorbidities and long-term consequences of CS despite clinical and biochemical "cure". Copyright © 2013 SEEN. Published by Elsevier Espana. All rights reserved.

  3. CHOROIDAL MELANOMA IN A PATIENT WITH WAARDENBURG SYNDROME.

    Science.gov (United States)

    Itty, Sujit; Richter, Elizabeth R; McCannel, Tara A

    2015-01-01

    To report a case of choroidal malignant melanoma in a patient with Waardenburg syndrome and bilateral choroidal pigmentary abnormalities. Clinical examination and multimodal imaging of the case. A 45-year-old woman presented with asymptomatic flat choroidal pigmentation abnormalities in both eyes. A choroidal lesion was identified in the inferotemporal periphery of the left eye arising from an area of hyperpigmentation; ultrasonography findings were consistent with a choroidal melanoma. The patient endorsed a personal and family history of premature graying of hair and was identified to have dystopia canthorum consistent with the diagnosis of Waardenburg syndrome. The authors present the first reported case of concurrent Waardenburg syndrome and choroidal malignant melanoma. This cooccurrence may suggest that the relative hyperpigmented regions in affected fundi may be abnormal and should be monitored closely for the development of choroidal melanoma.

  4. Epileptic spasms in clusters and associated syndromes other than West syndrome: A study of 48 patients.

    Science.gov (United States)

    Caraballo, Roberto H; Fortini, Sebastian; Reyes, Gabriela; Carpio Ruiz, Aliria; Sanchez Fuentes, Salvador Vazquez; Ramos, Belen

    2016-07-01

    To study the different epilepsy syndromes that included epileptic spasms (ES) in clusters without hypsarrhythmia (WoH). Between 2/1990 and 7/2013, we registered 48 patients with the electroclinical diagnostic criteria of ES in clusters WoH. We recognized two subgroups. In the first subgroup of 30 patients, ES started at a mean age of 10.6 months (range, 2-40 months). Ictal EEG recordings showed diffuse high-amplitude slow waves in 15 patients, diffuse slow waves followed by voltage attenuation in six patients, diffuse fast rhythms in five, diffuse slow waves with superimposed fast rhythms in three, and diffuse sharp waves in one. In the second subgroup of 18 patients, nine had electroclinical features of Lennox-Gastaut syndrome, four had epilepsy with myoclonic and atonic seizures, two had Dravet syndrome, one 6-year-old boy had a non-convulsive status epilepticus characterized by atypical absences associated with ES, one had epilepsy with migrating seizures of infancy, and one patient had clinical features of subacute sclerosing panencephalitis with ES. ES started at a mean age of 6.3 years (range, 0.5-13 years). The ictal EEG recording during the ES showed diffuse fast rhythms in 10 cases, diffuse slow waves with superimposed fast rhythms in four, and diffuse slow waves in four. Our study shows two subgroups of children with ESWoH. The first subgroup had a well-defined electroclinical syndrome predominantly in infancy, and in the second subgroup ES was one more seizure type associated with an epileptic encephalopathy other than West syndrome predominantly occurring in childhood. Copyright © 2016 Elsevier B.V. All rights reserved.

  5. Acute coronary syndrome in a patient with Marfan syndrome following emergent surgical repair of aortic dissection.

    Science.gov (United States)

    Bovolato, Francesca Elisa; Isabella, Giambattista; Rampazzo, Debora; Guglielmi, Cosimo; Gerosa, Gino; Iliceto, Sabino; Bilato, Claudio

    2008-06-01

    We report a case of acute coronary syndrome in a patient with suspect Marfan syndrome, 25 days after emergent modified Bentall-De Bono intervention for acute type I peripartum aortic dissection. She was admitted to our intensive care unit because of unstable angina, caused by critical blood flow reduction in a large portion of the myocardium, according to the severity of the symptoms and the electrocardiographic alterations. Coronary angiography showed a sub-occlusive stenosis of the left main coronary artery as a result of the dissection extension to the coronary ostium. Because of the high risk related to heart surgery, the patient was successfully treated by unprotected angioplasty and drug-eluting stent positioning. Short- and mid-term outcomes were favourable. Subsequent tests confirmed the diagnosis of Marfan syndrome. After 2 years of follow-up, the patient remains asymptomatic and in good health. To our knowledge, this is the first report of a successful percutaneous intervention of the left main coronary artery in a patient with Marfan syndrome who had already undergone ascending aortic root and valve replacement by the Bentall-De Bono procedure for acute dissection.

  6. SPECT Imaging of patients with parkinsonian syndromes

    International Nuclear Information System (INIS)

    Tatsch, K.

    2002-01-01

    Stimulated by the commercial availability of specific radioligands in vivo characterization of the dopaminergic system with single-photon emission tomography (SPECT) has gained clinical importance in the diagnostic work-up of patiens with parkinsonism. Currently interest is focused on two aspects of the dopaminergic neurotransmission: Cocaine analogues bind to the presynaptically located striatal dopamine transporter and herewith allow to assess the structural integrity of the presynaptic terminals which are the striatal projections of neurons originating in the substantia nigra. For functional assessment of the postsynaptic aspect of the dopaminergic synapse binding of specific receptor antagonists to postsynaptically located D2 receptors is analyzed. Depending on the clinical question and the pathology expected both methods - either each one alone or a combination of both - provide valuable diagnostic information. Currently those SPECT methods are applied to confirm or exclude a Parkinsonian syndrome, in the early and differential diagnosis of Parkinsonian syndromes, to assess disease severity and measure disease progression, and to monitor the effects of therapy e.g. with potentially neuroprotective drugs. This paper offers a comprehensive summary of the SPECT results reported in the literature dealing with the mentioned clinical applications. (orig.) [de

  7. Studies of microparticles in patients with the antiphospholipid syndrome (APS).

    Science.gov (United States)

    Vikerfors, A; Mobarrez, F; Bremme, K; Holmström, M; Ågren, A; Eelde, A; Bruzelius, M; Antovic, A; Wallén, H; Svenungsson, E

    2012-06-01

    To study circulating platelet, monocyte and endothelial microparticles (PMPs, MMPs and EMPs) in patients with antiphospholipid syndrome (APS) in comparison with healthy controls. Fifty-two patients with APS and 52 healthy controls were investigated. MPs were measured on a flow cytometer (Beckman Gallios) and defined as particles sized APS patients versus controls (p APS patients. We observed a high number of EMPs expressing TF in APS patients. The numbers of MMPs and total EMPs were also higher as compared with healthy controls but in contrast to previous reports, the number of PMPs did not differ between groups.

  8. [Musculoskeletal symptoms in patients with post-polio syndrome].

    Science.gov (United States)

    Balzien, B; Hofner, B; Harlander-Weikert, E; Frommelt, P; Bork, H; Forst, R; Fujak, A

    2014-06-01

    The prevalence of the post-polio syndrome (PPS) is in estimated 50 % of persons with established poliomyelitis with a subsequently stable phase of at least 15 years. The basic mechanism is a loss of motoneuron cells in the spinal cord resulting in muscle weakness and fatigue. In addition pain, cold intolerance and a loss of stamina are frequently reported. There are few studies focusing on the orthopaedic symptoms in the PPS. This study should support the health-care professionals to the address the needs of PPS patients. A questionnaire was developed to collect data on patients who have been diagnosed by a neurologist as fulfilling the criteria of a PPS. It consists of two parts. In the first part, general patient data are collected. In the second part, details of health, pain, and activities of daily living are collected at two points in time: the time of the stable phase immediately after the acute phase of the disease and the phase after the PPS diagnosis. The questionnaires were sent to patients with a diagnosis of PPS. A total of 124 questionnaires were analysed (male: 45, female: 79). Parts of the data were used to calculate a score. It was hypothesised that the score would demonstrate a higher load of orthopaedic symptoms in the PPS phase. The results show that the phase after poliomyelitis (stable phase vs. PPS phase) was associated with significantly different sum score relating to the orthopaedic impairments. The score in the stable phase is on average 18.6 units lower than that in the post-PPS diagnosis phase (p < 0.001). The hypothesis that in the PPS phase the load of orthopaedic symptoms is increased is confirmed by our data. The "loss of functioning in the upper extremity" is also significantly associated with the score (p = 0.004). At the time the survey was taken, patients reveal a high level of musculoskeletal impairments and disabilities after PPS than during the stable phase with regard to general health as well as pain status and

  9. Development of synchronous VHL syndrome tumors reveals contingencies and constraints to tumor evolution

    DEFF Research Database (Denmark)

    Fisher, Rosalie; Horswell, Stuart; Rowan, Andrew

    2014-01-01

    are contingent upon the nature of 3p loss of heterozygosity occurring early in tumorigenesis. However, despite distinct 3p events, genomic, proteomic and immunohistochemical analyses reveal evidence for convergence upon the PI3K-AKT-mTOR signaling pathway. Four germline tumors in this young patient...... a germline VHL mutation, the evolutionary principles of contingency and convergence in tumor development are complementary. In this small set of patients with early stage VHL-associated tumors, there is reduced mutation burden and limited evidence of intra-tumor heterogeneity....

  10. Increased Risk of Metabolic Syndrome in Patients with Vitiligo.

    Science.gov (United States)

    Ataş, Hatice; Gönül, Müzeyyen

    2017-05-05

    Inflammatory and immune processes can be triggered in vitiligo due to a decreased number of melanocytes and their anti-inflammatory effects. Because of the systemic nature of vitiligo, metabolic abnormalities such as insulin resistance and lipid profile disturbances as well as skin involvement may be observed in vitiligo. To investigate the association between metabolic syndrome and vitiligo. Case-control study. The demographic, clinical and laboratory features in the subjects were compared according to presence of vitiligo and metabolic syndrome [patients (n=63) vs. gender-age matched controls (n=65) and metabolic syndrome positive (n=38) vs. negative (n=90)]. A logistic regression analysis was also used. We identified metabolic syndrome in 24 (38.1%) subjects with vitiligo and 14 (21.5%) subjects without vitiligo (p=0.04). Active vitiligo, segmental vitiligo, an increased duration of vitiligo and an increased percentage in the affected body surface area were determined to be independent predictors of metabolic syndrome [activity of vitiligo: p=0.012, OR (95% CI)=64.4 (2.5-1672); type of vitiligo: p=0.007, OR (95% CI)=215.1 (4.3-10725.8); duration of vitiligo: p=0.03, OR (95% CI)=1.4 (1.1-2.0); percentage of affected body surface area: p=0.07, OR (95% CI)=1.2 (0.98-1.5)]. The risk of developing metabolic syndrome is increased in patients with vitiligo. The poor clinical features of vitiligo, such as active, extended and segmental vitiligo with an increased duration of time, are independent predictors for developing metabolic syndrome.

  11. DISCOGENIC RADICULOMYELOISCHEMIC LUMBAL SYNDROME IN CHILDREN - PRESENTATION OF ONE PATIENT

    Directory of Open Access Journals (Sweden)

    Zoran Perić

    2000-03-01

    Full Text Available The paper presents fhe emergence of the discogenic radiculomyeloischemic (RMI lumbal syndrome in a 12 year old girl. The medial prolapses of the discus at the L3-L4 and L4-L5 levels have caused the emergence of the bilateral radicular syndrome while the compression of the Adamkiewitcz artery has caused the generation of the distal thoracic and lumbalosacral part of the spinal cord. In the clinic image there was an evident association of the prominent painful syndrome and paraparesis without any disturbance of the sphincter control. The appearance of the signs of the vegetative vasculardisturbances on the legs represents an important part of theclinic image of this syndrome in children. The extensive clinic, electrophysiolgical radiological and laboratory examination has been carried out on the patient. On the basis of the obtained results it can be concluded that an early diagnosis of the discogenic RMI lumbal syndrome in children, beside a detailed radiological examination, very often requires - as a part of the additional examinations - the scanning of the spinal column and the spinal cord by magnetic resonance since a timely carried out operative treatment can lead to the complete recovery of such patients.

  12. Metabolic syndrome in patients with ischemic heart disease

    International Nuclear Information System (INIS)

    Yasmin, S.; Naveed, T.; Shakoor, T.

    2008-01-01

    To determine the frequency of metabolic syndrome in patients with Ischemic Heart Disease (IHD). Cross-sectional, descriptive study. A total of 100 subjects with ischemic heart disease, fulfilling the inclusion criteria, were enrolled in the study. Demographic data (age and gender) and the 5 component conditions of the metabolic syndrome were noted. Subjects were physically assessed for the abdominal obesity, based on waist circumference. Fasting blood samples for glucose and lipid profile in first 24 hours after acute coronary insult were drawn and tested in central laboratory. Variables were processed for descriptive statistics. In this study population, 68% were male and 32% were female with mean age of 52 +-13.6 years in men and 56 +- 12.5 years in women. Frequency of metabolic syndrome was 32% in men and 28% in women. It increased with age. The highest rate of metabolic syndrome was in men diagnosed as STEMI (odds ratio: 3.39, 95% CI=1.36-8.41). Frequency of metabolic syndrome was high among the patients with IHD. It supports the potential for preventive efforts in persons with high-risk of IHD. (author)

  13. Patterns of neuropsychiatric sub-syndromes in Brazilian and Norwegian patients with dementia.

    Science.gov (United States)

    Truzzi, Annibal; Ulstein, Ingun; Valente, Letice; Engelhardt, Eliasz; Coutinho, Evandro Silva Freire; Laks, Jerson; Engedal, Knut

    2013-02-01

    Neuropsychiatric symptoms (NPS) affect the majority of patients who have dementia. Neuropsychiatric sub-syndromes with symptoms that occur together and have common neurobiological correlates have been identified. There are scarce data regarding the comparison of the pattern of the neuropsychiatric sub-syndromes in distinct ethnical and cultural populations. We aim at comparing the pattern of the NPS, and the factor analysis of the Neuropsychiatric Inventory (NPI-10) in two samples of outpatients with dementia living in Brazil and Norway. This is a cross-sectional study. The sample consists of 168 Brazilian and 155 Norwegian demented patients from psychogeriatric facilities and community-based educational programs. Brazilian patients were diagnosed with Alzheimer's disease (63.7%), vascular dementia (15.5%), or mixed dementia (20.8%), whereas the diagnoses of Norwegian patients were Alzheimer's disease (97.4%) and mixed dementia (2.6%). Principal component analysis with the Varimax rotation was used for factor analysis of the NPI-10. Apathy (80.4 %), agitation/aggression (45.8%), and aberrant motor behavior (45.8%) were the most common symptoms in the Brazilian sample. Apathy (72.3%), dysphoria (61.9%), and anxiety (52.3%) were the most frequent symptoms in the Norwegian sample. Factor analysis of the NPI-10 revealed three syndromes for the Brazilian (Psychosis, Mood, Psychomotor) and Norwegian (Psychosis, Mood, Frontal) groups. The frequency of individual NPS may differ among distinct populations. However, Psychosis and Depression are common sub-syndromes in diverse ethnical and cultural patients with dementia. Our findings support the syndromic approach for the clinical assessment of the patients with dementia.

  14. Irritable bowel syndrome and chronic constipation in patients with endometriosis

    NARCIS (Netherlands)

    Szojda, M.M.; Mijatovic, V.; Bersma, R.J.F.; Hompes, P.G.A.

    2011-01-01

    Aim The aim of this study was to evaluate how many patients with endometriosis have concomitant irritable bowel syndrome (IBS) and/or constipation according to the Rome III criteria. Furthermore, the value of an additional gastroenterological consultation with therapeutic advice was evaluated.

  15. The risk of ischaemic stroke in primary antiphospholipid syndrome patients

    DEFF Research Database (Denmark)

    Radin, M; Schreiber, K; Cecchi, I

    2018-01-01

    BACKGROUND AND PURPOSE: The most common neurological manifestation of antiphospholipid syndrome (APS) is ischaemic stroke. Identifying patients with APS at high risk for developing any thrombotic event remains a major challenge. In this study, the aim was to identify predictive factors of ischaemic...

  16. Leclercia adecarboxylata bacteraemia in an immunocompromised patient with metabolic syndrome.

    Science.gov (United States)

    Sanchez Porto, Antonio; Casas Ciria, Javier; Roman Enri, Manuela; Garcia Collado, Sergio; Bachiller Luque, M Rosario; Eiros, Jose Maria

    2014-06-01

    Leclercia adecarboxylata is being increasingly diagnosed as a causative agent of infection due to the availability of rapid molecular diagnostic techniques Few cases of bacteraemia in subjects with underlying medical conditions have been reported. We report a case of L. adecarboxylata bacteraemia in an immunocompromised patient with metabolic syndrome.

  17. Restless legs syndrome in migraine patients : prevalence and severity

    NARCIS (Netherlands)

    van Oosterhout, W P J; van Someren, E J W; Louter, M A; Schoonman, G G; Lammers, G J; Rijsman, R M; Ferrari, M D; Terwindt, G M

    BACKGROUND AND PURPOSE: Our aim was to study not only the prevalence but more importantly the severity and the correlation between sleep quality and restless legs syndrome (RLS) in a large population of well-defined migraine patients as poor sleep presumably triggers migraine attacks. METHODS: In a

  18. Winter syndrome: An additional Egyptian patient with skeletal

    African Journals Online (AJOL)

    Rabah M. Shawky

    2015-05-08

    May 8, 2015 ... seizures and hearing loss [1–4]. BRWS may be considered another example of syndromic neuronal ... support and can say 3 words only. Family history was unremarkable. He had two healthy sibs. ... ear anomalies and/or deafness [3,13]. Our patient had small low set posteriorly rotated ears, however his ...

  19. [The treatment of patients with Mallory-Weiss syndrome].

    Science.gov (United States)

    Timerbulatov, Sh V; Timerbulatov, V M; khasanov, A G; Sagitov, R B

    2009-01-01

    Results of treatment of 345 patients with Mallory-Weiss syndrome were analyzed. Classification of the disease with a glance on stages and bleeding activity was given. Methods of hemostasis and indications for the surgical interference were discussed. The importance of consideration and respective treatment of the concomitant gastrointestinal diseases or alcohol intoxication was stressed.

  20. Difficult airway in a patient with Coffin-Siris syndrome.

    Science.gov (United States)

    Dimaculangan, D; Lokhandwala, B; Wlody, D; Gross, R

    2001-02-01

    We report on a patient with Coffin-Siris syndrome and consider a potential association between this condition and difficult intubation. Although this inherited condition is extremely rare, anesthesiologists should be aware of its existence and prepare for potential airway management problems whenever it is encountered.

  1. Hemorrhagic abscess in a patient with the acquired immunodeficiency syndrome

    International Nuclear Information System (INIS)

    Casado-Naranjo, I.; Lopez-Trigo, J.; Ferrandiz, A.; Cervello, A.; Navarro, V.

    1989-01-01

    Cerebral toxoplasmosis is frequent among patients with the acquired immunodeficiency syndrome. The common computed tomography appearance of this complication is multiple low density area with ring enhancement. We describe a very rare picture of cerebral toxoplasmosis, this is multiple hemorrhagic toxoplasmic abscess. (orig.)

  2. Testicular cancer in a patient with Primrose syndrome

    NARCIS (Netherlands)

    Mathijssen, Inge B.; van Hasselt-van der Velde, Jos; Hennekam, Raoul C. M.

    2006-01-01

    A mentally retarded, adult man was found to have joint contractures, sparse body hair, hearing loss, dysmorphic facial features, large calcified pinnae and a huge torus palatinus. All features are similar to those earlier described in patients with Primrose syndrome. In addition he developed a germ

  3. Metabolic Syndrome in Patients attending the Staff Clinic of a ...

    African Journals Online (AJOL)

    Background/objective: Metabolic syndrome (MetS) is characterised by a clustering of cardiometabolic risk factors. It contributes to morbidity and mortality in adults. The objective of the study was to identify new cases and associated factors of MetS in patients attending a tertiary hospital staff clinic. Materials and methods: The ...

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

    NARCIS (Netherlands)

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

    2017-01-01

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

  5. The identification of Lynch syndrome in Congolese colorectal cancer patients.

    Science.gov (United States)

    Poaty, Henriette; Aba Gandzion, Chandra; Soubeyran, Isabelle; Gassaye, Déby; Peko, Jean Félix; Nkoua Bon, Jean Bernard; Gombé Mbalawa, Charles

    2017-10-01

    We aimed to investigate the prevalence of Lynch syndrome as one of hereditary causes of colorectal cancer (CRC) among young Congolese individuals affected by the CRC, and to define methods for diagnosis in Congo Brazzaville. We conducted a transversal cohort study of 34 patients having a CRC with a family history for a period of eight years. They were selected among 89 CRCs of any type from the Bethesda guidelines criteria combined with pedigrees. Mismatch repair (MMR) genes alterations were researched by immunohistochemistry (IHC). We identified with the Bethesda criteria a total of 38.2% (34/89) patients having familial CRC with a confidence interval (CI) of 95%=[0.34-0.41]. Only 14.7% (5/34) 95% CI=[0.34-2.32] patients showed MMR immunodeficiency involving firstly MLH1 protein then MSH2 protein. These data account for 5.6% (5/89) 95% CI=[0.15-0.33] of patients affected by Lynch syndrome with an earlier median age of 35 years (range 20 to 47 years). The prevalence of Lynch syndrome found in Brazzaville is comparable to that is found in northern countries. The combined Bethesda guidelines, pedigree and IHC is an accessible and good alternative method for the positive diagnosis of Lynch syndrome in current practice in Congo. Copyright © 2017 Société Française du Cancer. Published by Elsevier Masson SAS. All rights reserved.

  6. Perioperative considerations in the patient with Angelman syndrome.

    Science.gov (United States)

    Bevinetto, Cara M; Kaye, Alan D

    2014-02-01

    Angelman syndrome arises by one of 4 genetic mechanisms. Patients often have craniofacial abnormalities, vagal hypertonia, skeletal muscle atrophy or underdevelopment, a history of seizure disorders, and pharmacodynamic unpredictability. Its pathogenesis, clinical manifestations, diagnosis and treatment options, and perioperative anesthetic considerations are presented. Copyright © 2014 Elsevier Inc. All rights reserved.

  7. Overactive bladder syndrome and bladder wall thickness in patients with obstructive sleep apnea syndrome.

    Science.gov (United States)

    Yilmaz, Zahide; Voyvoda, Bekir; Şirinocak, Pinar Bekdik

    2018-01-01

    The main objective of the present study was to evaluate the presence of overactive bladder (OAB) syndrome, nocturia, urgency, and urge incontinence in patients with obstructive sleep apnea syndrome (OSAS), and measure bladder wall thickness (BWT) in these patients. The patient group was composed of 38 patients with OSAS. The control group was composed of 15 healthy individuals. All patients were evaluated using the Epworth Sleepiness Scale (ESS) and Overactive Bladder Symptom Score (OABSS). The bladder wall thickness was measured by transabdominal ultrasound (US). The presence of nocturia, urinary urgency, and urge incontinence were also evaluated. The mean OABSS was significantly higher in the patient group compared with the control group (p=0.048). The minimum oxygen saturation (Min.SO2) of patients with urgency was found to be significantly lower (p=0.014). The time spent below 90% of oxygen saturation (SO2) was significantly longer in patients with urinary urgency (p=0.009). There was no difference in BWT measurements between the patient group and the control group. There was a significant relationship between BWT values and OABSS in patients with OSAS (p=0.002). The results of the present study suggest that OSAS is associated with OAB syndrome. As a key symptom of OAB, urgency correlates with hypoxia in cases with OSAS. Although the present study did not observe any difference in BWT measurements between the patients and the control group, there was a correlation between BWT measurements and OABSS in patients with OSAS. Copyright® by the International Brazilian Journal of Urology.

  8. Normal muscle strength and fatigability in patients with effort syndromes.

    Science.gov (United States)

    Stokes, M J; Cooper, R G; Edwards, R H

    1988-10-22

    To examine fatigue mechanisms in an unselected series of patients with excess fatigue ("effort syndromes") their muscle function was compared with that of normal subjects. Voluntary performance was assessed with a cycle ergometer to exhaustion and by maximal isometric contractions of the quadriceps femoris. The mean maximal heart rate in patients during ergometry was 89% of the predicted rate, and quadriceps strength was either normal or was inappropriate for the available muscle, which suggested submaximal effort. Contractile performance was examined in the absence of volition with stimulated contractions of the adductor pollicis. During stimulated fatiguing activity patients were neither weaker nor more fatigable than controls; thus the excess fatigue experienced by the patients was not due to a defect of the contractile apparatus. The increased perception of effort must therefore be due to impairment of central rather than peripheral mechanisms. The optimal approach to treatment of effort syndromes combines physical and psychological techniques.

  9. A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia.

    Science.gov (United States)

    Sotos, Juan; Miller, Katherine; Corsmeier, Donald; Tokar, Naomi; Kelly, Benjamin; Nadella, Vijay; Zhong, Huachun; Wetzel, Amy; Adler, Brent; Yu, Chack-Yung; White, Peter

    2017-01-01

    We report a female patient with endocrine abnormalities, hypogonadotropic hypogonadism and amazia (breasts aplasia/hypoplasia but normal nipples and areolas) in a rare syndrome: Van Maldergem syndrome (VMS). Our patient was first evaluated at age 4 for intellectual disability, craniofacial features, and auditory malformations. At age 15, she presented with no breast development and other findings consistent with hypogonadotropic hypogonadism. At age 37, she underwent whole exome sequencing (WES) to identify pathogenic variants. WES revealed compound heterozygous variants in DCHS1 (rs145099391:G > A, p.P197L & rs753548138:G > A, p .T2334 M) [RefSeq NM_003737.3], diagnostic of Van Maldergem syndrome (VMS-1). VMS is a rare autosomal disorder reported in only 13 patients, characterized by intellectual disability, typical craniofacial features, auditory malformations, hearing loss, skeletal and limb malformations, brain abnormalities with periventricular neuronal heterotopia and other variable anomalies. Our patient had similar phenotypic abnormalities. She also had hypogonadotropic hypogonadism and amazia. Based on the clinical findings reported, two previously published patients with VMS may also have been affected by hypogonadotropic hypogonadism, but endocrine abnormalities were not evaluated or mentioned. This case highlights an individual with VMS, characterized by compound heterozygous variants in DCHS1 . Our observations may provide additional information on the phenotypic spectrum of VMS, including hypogonadotropic hypogonadism and amazia. However, the molecular genetic basis for endocrine anomalies observed in some VMS patients, including ours, remains unexplained.

  10. Clinical characterization and proposed mechanism of juvenile glaucoma--a patient with a chromosome 4p deletion, Wolf-Hirschhorn Syndrome.

    Science.gov (United States)

    Curtin, Jeremy; Moloney, Greg; Grigg, John; Sharota Franzco, Dorian

    2010-09-01

    The case presented is that of a 22-year-old male with Wolf-Hirschhorn syndrome who was referred with glaucoma refractory to medical treatment. Six other patients have been described with Wolf-Hirschhorn syndrome (WHS) and glaucoma, most being congenital glaucoma with diagnosis in infancy. We describe the first case of juvenile onset glaucoma in this syndrome. Our patient had narrow angles on gonioscopy, with ultrasound biomicroscopy revealing ciliary body cysts. We alert others to the possibility of this mechanism of secondary narrow angle glaucoma associated with this chromosomal deletion syndrome.

  11. Mitral valve disease in patients with Marfan syndrome undergoing aortic root replacement.

    Science.gov (United States)

    Kunkala, Meghana R; Schaff, Hartzell V; Li, Zhuo; Volguina, Irina; Dietz, Harry C; LeMaire, Scott A; Coselli, Joseph S; Connolly, Heidi

    2013-09-10

    Cardiac manifestations of Marfan syndrome include aortic root dilation and mitral valve prolapse (MVP). Only scant data exist describing MVP in patients with Marfan syndrome undergoing aortic root replacement. We retrospectively analyzed data from 166 MFS patients with MVP who were enrolled in a prospective multicenter registry of patients who underwent aortic root aneurysm repair. Of these 166 patients, 9% had mitral regurgitation (MR) grade >2, and 10% had MR grade 2. The severity of MVP and MR was evaluated by echocardiography preoperatively and ≤ 3 years postoperatively. Forty-one patients (25%) underwent composite graft aortic valve replacement, and 125 patients (75%) underwent aortic valve-sparing procedures; both groups had similar prevalences of MR grade >2 (P=0.7). Thirty-three patients (20%) underwent concomitant mitral valve (MV) intervention (repair, n=29; replacement, n=4), including all 15 patients with MR grade >2. Only 1 patient required MV reintervention during follow-up (mean clinical follow-up, 31 ± 10 months). Echocardiography performed 21 ± 13 months postoperatively revealed MR >2 in only 3 patients (2%). One early death and 2 late deaths occurred. Although the majority of patients with Marfan syndrome who undergo elective aortic root replacement have MVP, only 20% have concomitant MV procedures. These concomitant procedures do not seem to increase operative risk. In patients with MR grade ≤ 2 who do not undergo a concomitant MV procedure, the short-term incidence of progressive MR is low; however, more follow-up is needed to determine whether patients with MVP and MR grade ≤ 2 would benefit from prophylactic MV intervention.

  12. Collet-sicard syndrome in a patient with jefferson fracture.

    Science.gov (United States)

    Kwon, Hee Chung; Cho, Dae Kyung; Jang, Yoon Young; Lee, Seong Jae; Hyun, Jung Keun; Kim, Tae Uk

    2011-12-01

    Collet-Sicard syndrome is a rare condition characterized by the unilateral paralysis of the 9th through 12th cranial nerves. We describe a case of a 46-year-old man who presented with dysphagia after a falling down injury. Computed tomography demonstrated burst fracture of the atlas. Physical examination revealed decreased gag reflex on the left side, decreased laryngeal elevation, tongue deviation to the left side, and atrophy of the left trapezius muscle. Videofluoroscopic swallowing study (VFSS) revealed frequent aspirations of a massive amount of thick liquid and incomplete opening of the upper esophageal sphincter during the pharyngeal phase. We report a rare case of Collet-Sicard syndrome caused by Jefferson fracture.

  13. Gestational, perinatal and family findings of patients with Patau syndrome

    OpenAIRE

    Rosa, Rafael Fabiano M.; Sarmento, Melina Vaz; Polli, Janaina Borges; Groff, Daniela de Paoli; Petry, Patrícia; de Mattos, Vinícius Freitas; Rosa, Rosana Cardoso M.; Trevisan, Patrícia; Zen, Paulo Ricardo G.

    2013-01-01

    OBJECTIVE: To describe gestational, perinatal and family findings of patients with Patau syndrome (PS). METHODS: The study enrolled patients with PS consecutively evaluated during 38 years in a Clinical Genetics Service of a pediatric referral hospital in Southern Brazil. The clinical data and the results of cytogenetic analysis were collected from the medical records. For statistical analysis, the two-tailed Fisher's exact test and the chi-square test with Yates' correction were used, b...

  14. Cri du chat syndrome: changing phenotype in older patients.

    Science.gov (United States)

    Van Buggenhout, G J; Pijkels, E; Holvoet, M; Schaap, C; Hamel, B C; Fryns, J P

    2000-01-31

    The cri du chat syndrome or 5p deletion syndrome is a well-delineated clinical entity and has an incidence of 1/50,000 in newborn infants. A de novo deletion is present in 85% of the patients. Ten to 15% are familial cases with more than 90% due to a parental translocation and 5% due to an inversion of chromosome 5. Although the size of the deleted segment varies, the critical segment that is deleted in all patients appears to be 5p15.2. The clinical picture is well known in younger patients and includes the typical high-pitched cry, psychomotor retardation, microcephaly, growth rate failure, and craniofacial abnormalities including round face, hypertelorism, broad nasal bridge, downward slanting palpebral fissures, and micrognathia. With advancing age, the clinical picture becomes less striking. We present seven patients with 5p deletion syndrome, who were between age 16 and 47 years. Comparing their phenotype at several ages, a change of their phenotype was noted. Some of the clinical characteristics became more evident such as long face, macrostomia, and scoliosis. All patients were severely or profoundly mentally retarded except one patient who was mildly mentally retarded. The diagnosis was difficult to make in some of the patients who were first seen at an older age. In some of them, the craniofacial appearance resembled that seen in Angelman syndrome. Most patients had periods of destructive behavior, self mutilation, and aggression. The clinical diagnosis should be confirmed as soon as possible with cytogenetic investigation to provide specific support, prevention, and treatment of complications. Therefore, it is important to perform follow-up studies in young children to determine their outcome after infant-stimulation programs.

  15. Tubulointerstitial Nephritis in a Patient With Probable Autoimmune Lymphoproliferative Syndrome

    DEFF Research Database (Denmark)

    Glerup, Mia; Herlin, Troels; Rittig, Søren

    2013-01-01

    Autoimmune lymphoproliferative syndrome (ALPS) is caused by a nonmalignant defective Fas-mediated apoptosis. The main clinical manifestations are chronic lymphadenopathy, splenomegaly, and autoimmune cytopenia. Most patients with ALPS have a FAS germline mutation. ALPS has occasionally been......-vessel vasculitis with normal glomeruli and inflammation in the interstitium. The patient responded to prednisolone treatment and obtained a full renal recovery. Symptoms of connective tissue disorder supervened and after the development of more pronounced splenomegaly, a diagnosis of ALPS was confirmed....

  16. Family Burden and Problems in Patients with Down Syndrome

    Directory of Open Access Journals (Sweden)

    Sahel Hemmati

    2005-10-01

    Full Text Available Objective: Down syndrome (Trisomy of 21 is the most common chromosomal abnormality which associated with different somatic, psychotic, familial and social problems. This research was done under supervision of the child developmental disturbances group and with support of deputy of research in the University of Welfare and Rehabilitation Sciences with the goal of surveying problems and familial burden of patient with down syndrome. Materials & Methods: 61 families of the patients registered by the Iranian Society of Down Syndrome were participated (31 families with boys and 30 families with girls patients, patient with the range age of 3-17 years. Expert panel structured questionnaire in 7 domain (each 3 to 6 question were used. The dates banked and analysis with student spss-pc. Results: This survey found the most problems in 7 Domains including somatic, psychotic, behavioral, social, learning, supportive and communication problems. Mean priority scores in these domains based on family opinion was near and was 19.72 (SD=2.41. The datas showed most of families need education and knowing about supporting centers. %97 of patients were well accepted by their families, 96% of Families worried about their children after their death. In spite of the disabilities in these patients the families accounted their children as an able person. Conclusion: The patients with Down Syndrome are accepted in their families and also adjusted with other family members, so the families Support them and expend all the expenditures. The families attitude about these patients are good and not shameful of their. Then need of education, information, social planning about their vocation, and future is a necessitate based on families opinion.

  17. A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome

    Science.gov (United States)

    Thompson Legault, Julie; Strittmatter, Laura; Tardif, Jessica; Sharma, Rohit; Tremblay-Vaillancourt, Vanessa; Aubut, Chantale; Boucher, Gabrielle; Clish, Clary B; Cyr, Denis; Daneault, Caroline; Waters, Paula J; Vachon, Luc; Morin, Charles; Laprise, Catherine; Rioux, John D; Mootha, Vamsi K; Des Rosiers, Christine

    2015-11-03

    A decline in mitochondrial respiration represents the root cause of a large number of inborn errors of metabolism. It is also associated with common age-associated diseases and the aging process. To gain insight into the systemic, biochemical consequences of respiratory chain dysfunction, we performed a case-control, prospective metabolic profiling study in a genetically homogenous cohort of patients with Leigh syndrome French Canadian variant, a mitochondrial respiratory chain disease due to loss-of-function mutations in LRPPRC. We discovered 45 plasma and urinary analytes discriminating patients from controls, including classic markers of mitochondrial metabolic dysfunction (lactate and acylcarnitines), as well as unexpected markers of cardiometabolic risk (insulin and adiponectin), amino acid catabolism linked to NADH status (α-hydroxybutyrate), and NAD(+) biosynthesis (kynurenine and 3-hydroxyanthranilic acid). Our study identifies systemic, metabolic pathway derangements that can lie downstream of primary mitochondrial lesions, with implications for understanding how the organelle contributes to rare and common diseases. Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved.

  18. Mowat-Wilson syndrome: neurological and molecular study in seven patients

    Directory of Open Access Journals (Sweden)

    José Albino da Paz

    2015-01-01

    Full Text Available Objective To present a seven-cases serie of Mowat-Wilson syndrome (MWS. Method All patients with positive mutation for the ZEB2 were evaluated by a geneticist and a neurologist, with clinical and laboratorial characterization. Results A peculiar facies and mental retardation were present in all patients. The Denver II scale showed intense delay in all aspects, especially fine motor and adaptive. Acquired microcephaly was observed in five patients. Only one patient did not present epilepsy. Epilepsy was focal and predominating in sleep, with status epilepticus in three patients. The initial seizure was associated with fever in most patients (4/6. The EEG showed epileptic focal activity (5/7. The imaging studies revealed total agenesis (4/7 and partial agenesis of the corpus callosum (1/7. Conclusion Physicians who care for patients with mental retardation and epilepsy should be aware of SMW.

  19. Angiosarcoma in previously irradiated breast in patient with Li-Fraumeni syndrome. A case report

    Directory of Open Access Journals (Sweden)

    Oséias Vargas Barbosa

    Full Text Available CONTEXT: Li-Fraumeni syndrome is a rare disease with an autosomal dominant inheritance pattern and high penetrance that defines a 50% chance of developing cancer before the age of 30 years, including cases of breast sarcoma. Patients with this syndrome who require radiotherapy have an increased risk of developing secondary malignancies including angiosarcomas. CASE REPORT: This was a case report on a female patient with Li-Fraumeni syndrome. In October 2005, she was diagnosed with invasive ductal carcinoma of the right breast and underwent sectorectomy. She then received chemotherapy and adjuvant radiotherapy. Trastuzumab and tamoxifen were also part of the treatment. She recently sought care at our hospital, complaining of hyperemia and nodulation in the right breast, and underwent surgical resection that revealed epithelioid angiosarcoma. CONCLUSIONS: When genetic predisposition due to Li-Fraumeni syndrome is documented, the therapy should be adapted so as to minimize the risk. Thus, conservative surgical treatments should be avoided and mastectomy without radiation should be prioritized. In cases in which use of radiotherapy is justified, patients should be followed up intensively.

  20. 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.

  1. KERATODERMA BLENORRHAGICUM IN A PATIENT WITH REITER SYNDROME

    Directory of Open Access Journals (Sweden)

    Valentina Dimitrova

    2008-10-01

    Full Text Available Reiter syndrome is a systemic disorder, originally defined as a triad of arthritis, urethritis and conjunctivitis. This symptoms complex usually follows an episode of either urethritis or dysentery. Skin and mucosal involvement is observed in about 10% of the cases. We present a case of Reiter’s syndrome in a 55-year-old man who developed the typical skin lesions - kerathoderma blenorrhagicum. The disease started with a severe asymmetric oligoarthritis a month after the patient had urethritis. Two weeks after the onset of the arthritis red patches on the palms and plants appeared, which transformed quickly in harder and elevated plaques.

  2. [Anesthesia for a pediatric patient with Coffin-Siris syndrome].

    Science.gov (United States)

    Shirakami, Gotaro; Tazuke-Nishimura, Misako; Hirakata, Hideo; Fukuda, Kazuhiko

    2005-01-01

    A 3-year-old boy with Coffin-Siris syndrome was scheduled to undergo diagnostic laparoscopy, inguinal herniorrhaphy and orchiopexy at an ambulatory setting and same-day admission. Following anesthesia induction with inhalational sevoflurane, upper airway obstruction and hypoxemia developed. Hypoxemia was resolved immediately by manual positive pressure ventilation, although the stomach became bulged. Operation was finished uneventfully. However, he had massive bronchial secretion during anesthesia. He was admitted as planned and discharged on postoperative day 2. Since patients with Coffin-Siris syndrome have potential airway and pulmonary dysfunctions, careful perianesthesia airway and respiratory managements are essential.

  3. Spontaneous intracranial hypotension syndrome: magnetic resonance findings in two patients

    International Nuclear Information System (INIS)

    Ortega, R.; Pastor, J.; Escamilla, F.; Romero, M. I.

    1999-01-01

    The postural headache syndrome associated with a decrease in the cerebrospinal fluid (CSF) pressure is generally secondary to the CSF leakage that usually occurs after diagnostic lumbar puncture. Spontaneous intracranial hypotension can not be attributed to any known cause or previous diagnostic or therapeutic intervention. The syndrome is characterized by severe headache that is relieved by lying supine. During lumbar puncture, the CSF pressure is normally low. We present two patients in whom gadolinium-enhanced magnetic resonance imaging showed widespread thickening and enhancement of the dura mater and subdural fluid collections. (Author) 13 refs

  4. Metabolic syndrome and risk of restenosis in patients undergoing percutaneous coronary intervention

    NARCIS (Netherlands)

    Wouterjukema, J; Monraats, PS; Zwinderman, AH; De Maat, MPM; Kastelein, JJP; Doevendans, PAF; De Winter, RJ; Tio, RA; Frants, RR; Van der Laarse, A; Van der Wall, EE; Jukema, JW

    OBJECTIVE - Patients with metabolic syndrome have increased risk of cardiovascular events. The number of patients With Metabolic syndrome is rapidly increasing, and these patients Often need revascularization. However, only limited data are available on the effect of metabolic syndrome on restenosis

  5. Anaplerosis in Complex Treatment of Patients with Diabetic Foot Syndrome

    Directory of Open Access Journals (Sweden)

    B.G. Bezrodny

    2015-05-01

    Full Text Available The article describes the improvement of anaplerosis in patients with diabetic foot syndrome using skin flaps on vascular pedicle of the perforating vessels. The study involved patients with type 2 diabetes mellitus complicated with diabetic foot syndrome of neuroischemic form and chronic wounds of the lower extremities that do not heal for more than 21 days from the date of occurrence. The wounds were cleaned with ultrasonic cavitation. There was applied bandage with sorption antibacterial remedy base on nanodispersed silicon dioxide. There was applied a drainage vacuum bandage on a wound on the third day (VAC therapy. The flap is forming fitting to the size and configuration of a wound on a foot. Fourteen patients (93 % in the basic group were found to have survived flaps. Long-term follow up in 6 months demonstrated full maintenance of supporting function and good survived skin graft, absence of foot ulcers. In a control group 7 patients had recurrent foot ulcer. Improved techniques of autodermoplasty in patients with diabetic foot syndrome include glycemia control, preparation of a wound using vacuum apparatus bandage. Usage of split-skin graft combined with vacuum apparatus bandage allows close acute and chronic wounds effectively, maintain supporting function of an extremity, decrease in-hospital staying, and improve quality of patient’s life. Adequate foot wound closure prevents high-level amputation of low extremities in diabetic patients.

  6. WDR45 mutations in three male patients with West syndrome.

    Science.gov (United States)

    Nakashima, Mitsuko; Takano, Kyoko; Tsuyusaki, Yu; Yoshitomi, Shinsaku; Shimono, Masayuki; Aoki, Yoshihiro; Kato, Mitsuhiro; Aida, Noriko; Mizuguchi, Takeshi; Miyatake, Satoko; Miyake, Noriko; Osaka, Hitoshi; Saitsu, Hirotomo; Matsumoto, Naomichi

    2016-07-01

    West syndrome is an early-onset epileptic encephalopathy characterized by clustered spasms with hypsarrhythmia seen on electroencephalogram (EEG). West syndrome is genetically heterogeneous, and its genetic causes have not been fully elucidated. WD Repeat Domain 45 (WDR45) resides on Xp11.23, and encodes a member of the WD repeat protein interacting with phosphoinositides (WIPI) family, which is crucial in the macroautophagy pathway. De novo mutations in WDR45 cause beta-propeller protein-associated neurodegeneration characterized by iron accumulation in the basal ganglia. In this study, we performed whole exome sequencing of individuals with West syndrome and identified three WDR45 mutations in three independent males (patients 1, 2 and 3). Two novel mutations occurred de novo (patients 1 and 2) and the remaining mutation detected in a male patient (patient 3) and his affected sister was inherited from the mother, harboring the somatic mutation. The three male patients showed early-onset intractable seizures, profound intellectual disability and developmental delay. Their brain magnetic resonance imaging scans showed cerebral atrophy. We found no evidence of somatic mosaicism in the three male patients. Our findings indicate that hemizygous WDR45 mutations in males lead to severe epileptic encephalopathy.

  7. Prone position in patients with acute respiratory distress syndrome

    Science.gov (United States)

    Setten, Mariano; Plotnikow, Gustavo Adrián; Accoce, Matías

    2016-01-01

    Acute respiratory distress syndrome occupies a great deal of attention in intensive care units. Despite ample knowledge of the physiopathology of this syndrome, the focus in intensive care units consists mostly of life-supporting treatment and avoidance of the side effects of invasive treatments. Although great advances in mechanical ventilation have occurred in the past 20 years, with a significant impact on mortality, the incidence continues to be high. Patients with acute respiratory distress syndrome, especially the most severe cases, often present with refractory hypoxemia due to shunt, which can require additional treatments beyond mechanical ventilation, among which is mechanical ventilation in the prone position. This method, first recommended to improve oxygenation in 1974, can be easily implemented in any intensive care unit with trained personnel. Prone position has extremely robust bibliographic support. Various randomized clinical studies have demonstrated the effect of prone decubitus on the oxygenation of patients with acute respiratory distress syndrome measured in terms of the PaO2/FiO2 ratio, including its effects on increasing patient survival. The members of the Respiratory Therapists Committee of the Sociedad Argentina de Terapia Intensiva performed a narrative review with the objective of discovering the available evidence related to the implementation of prone position, changes produced in the respiratory system due to the application of this maneuver, and its impact on mortality. Finally, guidelines are suggested for decision-making. PMID:27925054

  8. Cepacia Syndrome in a Non-Cystic Fibrosis Patient

    Directory of Open Access Journals (Sweden)

    Naomi Hauser

    2015-01-01

    Full Text Available Burkholderia (formerly Pseudomonas cepacia complex is a known serious threat to patients with cystic fibrosis, in whom it has the potential to cause the fatal combination of necrotizing pneumonia, worsening respiratory failure, and bacteremia, known as Cepacia syndrome. The potential for this pathogen to infect non-cystic fibrosis patients is limited and its epidemiology is poorly understood. Previously reported cases of severe Burkholderia cepacia complex lung infection in immunocompetent hosts include pneumonia, bronchiectasis, pyopneumothorax, and cavitary lesions. We present a case of a 64-year-old man with Streptococcus pneumoniae community-acquired pneumonia whose hospital course was complicated by developing cavitary lung lesions, bacteremia, and acute respiratory distress syndrome. Repeated tracheal aspirate and blood cultures grew Burkholderia cepacia. Our case appears to be the first report of Cepacia syndrome in a patient without cystic fibrosis. This report raises concern regarding the potential severity of pulmonary Burkholderia cepacia complex infection and the need to broaden clinicians’ suspicion for Cepacia syndrome. A framework to help diagnose and treat infected non-cystic fibrosis individuals may be useful.

  9. Prone position in patients with acute respiratory distress syndrome.

    Science.gov (United States)

    Setten, Mariano; Plotnikow, Gustavo Adrián; Accoce, Matías

    2016-01-01

    Acute respiratory distress syndrome occupies a great deal of attention in intensive care units. Despite ample knowledge of the physiopathology of this syndrome, the focus in intensive care units consists mostly of life-supporting treatment and avoidance of the side effects of invasive treatments. Although great advances in mechanical ventilation have occurred in the past 20 years, with a significant impact on mortality, the incidence continues to be high. Patients with acute respiratory distress syndrome, especially the most severe cases, often present with refractory hypoxemia due to shunt, which can require additional treatments beyond mechanical ventilation, among which is mechanical ventilation in the prone position. This method, first recommended to improve oxygenation in 1974, can be easily implemented in any intensive care unit with trained personnel. Prone position has extremely robust bibliographic support. Various randomized clinical studies have demonstrated the effect of prone decubitus on the oxygenation of patients with acute respiratory distress syndrome measured in terms of the PaO2/FiO2 ratio, including its effects on increasing patient survival. The members of the Respiratory Therapists Committee of the Sociedad Argentina de Terapia Intensiva performed a narrative review with the objective of discovering the available evidence related to the implementation of prone position, changes produced in the respiratory system due to the application of this maneuver, and its impact on mortality. Finally, guidelines are suggested for decision-making.

  10. Assessing olfactory functions in patients with Barth syndrome.

    Science.gov (United States)

    Dibattista, Michele; Lobasso, Simona; Stramaglia, Sebastiano; Corcelli, Angela

    2017-01-01

    Barth syndrome is a rare X-linked disease affecting less than 200 individuals worldwide. Several comorbidities have been associated with the pathology and, among those, cardiac myopathy and neutropenia are the most life threatening. The appropriate nutritive support is important to sustain the everyday life of Barth syndrome patients given the chronic fatigue they experience. Since they often prefer salty and fried food, and avoid vegetables and fruits, their eating habit and food preferences do not always provide the proper amount of vitamins and amino acids. It has been indeed reported that Barth syndrome patients have altered taste sensitivity. As olfaction also contributes to food consumption and flavor perception, we decided to investigate their olfactory abilities using the "Sniffin' sticks' extended test". We found no significant difference in any of the tested olfactory abilities between the group of Barth syndrome patients and the healthy controls. In summary, altered food preference of Barth boys could not be easily explained with an altered olfactory perception.

  11. Assessing olfactory functions in patients with Barth syndrome.

    Directory of Open Access Journals (Sweden)

    Michele Dibattista

    Full Text Available Barth syndrome is a rare X-linked disease affecting less than 200 individuals worldwide. Several comorbidities have been associated with the pathology and, among those, cardiac myopathy and neutropenia are the most life threatening. The appropriate nutritive support is important to sustain the everyday life of Barth syndrome patients given the chronic fatigue they experience. Since they often prefer salty and fried food, and avoid vegetables and fruits, their eating habit and food preferences do not always provide the proper amount of vitamins and amino acids. It has been indeed reported that Barth syndrome patients have altered taste sensitivity. As olfaction also contributes to food consumption and flavor perception, we decided to investigate their olfactory abilities using the "Sniffin' sticks' extended test". We found no significant difference in any of the tested olfactory abilities between the group of Barth syndrome patients and the healthy controls. In summary, altered food preference of Barth boys could not be easily explained with an altered olfactory perception.

  12. Ultrastructural pathology of aortic dissections in patients with Marfan syndrome: Comparison with dissections in patients without Marfan syndrome

    NARCIS (Netherlands)

    Dingemans, Koert P.; Teeling, Peter; van der Wal, Allard C.; Becker, Anton E.

    2006-01-01

    Despite the discovery in 1990 that mutations in the fibrillin-1 gene cause the Marfan syndrome, the pathogenesis of the life-threatening dissections associated with this disease is far from elucidated. Both the massive number of known fibrillin-1 mutations that result in a heterogeneous patient

  13. Taxane-induced morphea in a patient with CREST syndrome

    Directory of Open Access Journals (Sweden)

    Susan Michele Bouchard

    2010-07-01

    Full Text Available The taxanes, docetaxel and paclitaxel, are microtubule stabilizing chemotherapeutic agents that have demonstrated antineoplastic effects in a variety of solid tumors. They have been linked to the development of localized cutaneous sclerosis in some patients. We present a case of docetaxel-induced cutaneous sclerosis of the lower extremities in a patient with pre-existing CREST syndrome. We propose that patients with a history of limited or diffuse systemic sclerosis should be given taxane chemotherapy with caution, as these patients may have an immunological predisposition for the development of drug-induced morphea.

  14. Liver transplantation in a patient with primary antiphospholipid syndrome and Budd-Chiari syndrome

    Science.gov (United States)

    Reshetnyak, Tatiana M; Seredavkina, Natalia V; Satybaldyeva, Maria A; Nasonov, Evgeniy L; Reshetnyak, Vasiliy I

    2015-01-01

    The antiphospholipid syndrome (APS) is an acquired thrombophilic disorder in which autoantibodies are produced to a variety of phospholipids determinants of cell membranes or phospholipid binding proteins. There are few reports about association between antiphospholipid antibodies and development of Budd-Chiari syndrome (BCS). We report the case of BCS development in young Russian male with primary APS. The patient underwent orthotopic liver transplantation on August 26, 2012. At present time his state is good, the blood flow in the liver restored and its function is not impaired. We report about the first time the successful use of dabigatran etexilate for prolonged anticoagulation therapy in APS patient with BCS. In addition patient is managed with immunosuppressive drugs. PMID:26380049

  15. Ocular Findings in Acquired Immunodeficiency Syndrome Patients ...

    African Journals Online (AJOL)

    Objective: To determine the prevalence of ocular disorders in adult (>15 years ) AIDS patients at PEPFAR clinic in Lagos, Nigeria. ... Conjunctival microvasculopathy 166 patients (41.5%), pingueculum in 114 (28.5%), pterygium in 76 (19.0%), refractive error in 93 (23.3%), cataract in 12 (3.0%), and 22 (5.5%) Glaucoma ...

  16. Patient safety and nursing: interface with stress and Burnout Syndrome

    Directory of Open Access Journals (Sweden)

    Cláudia Cristiane Filgueira Martins Rodrigues

    Full Text Available ABSTRACT Objective: To analyze studies on stress, Burnout Syndrome, and patient safety in the scope of nursing care in the hospital environment. Method: This was an integrative literature review. Data collection was performed in February 2016 in the following databases: Medical Literature Analysis and Retrieval System Online - PubMed/MEDLINE, Latin American and Caribbean Literature in Health Sciences - LILACS. Results: Ten scientific productions were selected, which listed that factors contributing to stress and Burnout Syndrome of nursing professionals are the work environment as a source of stress, and excessive workload as a source of failures. Conclusion: The analysis found that the stress and Burnout Syndrome experienced by these professionals lead to greater vulnerability and development of unsafe care, and factors such as lack of organizational support can contribute to prevent these failures.

  17. A Rare Case of Neuromyelitis Optica Spectrum Disorder in Patient with Sjogren’s Syndrome

    Directory of Open Access Journals (Sweden)

    Supat Thongpooswan

    2014-01-01

    Full Text Available We report a 48-year-old female with the history of Sjogren’s syndrome who presented with 3-week history of tingling, numbness, and shooting back, waist, and bilateral leg pain and numbness in the pelvic region with urinary and bowel incontinence. Physical examination was remarkable for reduced motor power in both lower extremities with spasticity. Sensory deficit was noted at the T6 level. Laboratory investigation revealed elevated ESR and CRP and positive serum antiaquaporin-4 IgG. Thoracic and lumbar magnetic resonance imaging revealed abnormal patchy areas, leptomeningeal enhancement through the thoracic cord extending from T3 through T6 levels, without evidence of cord compression. Impression of neuromyelitis optica spectrum disorder was made and patient was treated with methylprednisolone intravenously followed by tapering oral prednisone. Neurological symptoms gradually improved with resolution of bowel and urinary incontinence. In a patient with Sjogren’s syndrome who presents with neurological complaints, the possibility of neuromyelitis optica or neuromyelitis optica spectrum disorder should be considered. Awareness of the possibility of CNS disease is important due to the serious nature of CNS complications, some of which are treatable with immunosuppressants. Our patient with Sjogren’s syndrome who presented with myelopathy benefited from early recognition and institution of appropriate therapy.

  18. Identification of a homozygous PSTPIP1 mutation in a patient with a PAPA-like syndrome responding to canakinumab treatment.

    Science.gov (United States)

    Geusau, Alexandra; Mothes-Luksch, Nadine; Nahavandi, Hesam; Pickl, Winfried F; Wise, Carol A; Pourpak, Zahra; Ponweiser, Elisabeth; Eckhart, Leopold; Sunder-Plassmann, Raute

    2013-02-01

    Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome (OMIM 604416) is a rare autosomal dominant inherited autoinflammatory syndrome characterized by pyogenic sterile arthritis and less frequently accompanied by pyoderma gangrenosum and acne. It is associated with dominant missense mutations in the proline-serine-threonine phosphatase-interacting protein 1 gene (PSTPIP1) located on chromosome 15. The patient was diagnosed as having features of a PAPA-like syndrome in which cutaneous manifestations, such as pyoderma gangrenosum and acne fulminans, predominated. Sequencing of the PSTPIP1 gene was performed in the patient and his extended family. The patient's DNA analysis revealed a homozygous nucleotide exchange c.773G>C in the PSTPIP1 gene, leading to the substitution of glycine 258 by alanine (p.Gly258Ala), a previously reported heterozygous polymorphism. Heterozygous changes were identified in both of the patient's parents and in 7 other family members, all of whom were asymptomatic. The patient was treated with canakinumab, a human anti-interleukin 1β monoclonal antibody, which led to rapid remission of the symptoms. To our knowledge, this is the first reported case of the resolution of dermatological symptoms associated with a PAPA-like syndrome using canakinumab treatment. Further study of the p.Gly258Ala variant is warranted to determine whether this mutation has a role in causing an apparently recessive cutaneous syndrome resembling PAPA syndrome.

  19. Utility of gallium imaging in the diagnosis of Mycobacterium avium-intracellulare infection in patients with the acquired immunodeficiency syndrome

    International Nuclear Information System (INIS)

    Bach, M.C.; Bagwell, S.P.; Masur, H.

    1986-01-01

    Whole body Ga-67 scans revealed increased uptake in lymph nodes accessible for biopsy in three patients with the acquired immunodeficiency syndrome (AIDS) infected by Mycobacterium avium-intracellulare (MAI). In diagnostically difficult cases where the usual methods for diagnosing MAI are not helpful, Ga-67 studies may be of value

  20. [Eye contact in adult patients with Asperger syndrome].

    Science.gov (United States)

    Roy, M; Wolfgang, D

    2015-05-01

    It is unclear if individuals with autism spectrum disorders rarely hold direct eye contact because eyes are unimportant for them, or if it is actively avoided. The aim of the current investigation was to gain a better understanding for their views on direct eye contact by exploring adult patients with Asperger syndrome. 63 adult patients with Asperger syndrome (28 females, 35 males, 21 - 62 years old) were explored about using and sensing direct eye contact by means of a standardised questionnaire. 87 % of investigated patients depict direct eye contact as being disagreeable. They describe it as arduous and distracting. Therefore they mostly actively avoid direct eye contact. The here gained knowledge about aversion towards direct eye contact in individuals with autism should lead to a stronger understanding and acceptance of this problem in the non-autistic population. © Georg Thieme Verlag KG Stuttgart · New York.

  1. Moyamoya in a Patient with Smith-Magenis Syndrome.

    Science.gov (United States)

    Freeman, Jacob; Deleyiannis, Frederic; Bernard, Timothy J; Fenton, Laura Z; Somme, Steig; Wilkinson, C Corbett

    2017-01-01

    Occurrence of moyamoya syndrome in a patient with Smith-Magenis syndrome (SMS) has previously been reported once in a 10-year-old Asian female. We report a second case of moyamoya in a patient with SMS, in a now 25-year-old Asian female diagnosed with both conditions as a child. In addition to describing her medical and surgical history, we provide a detailed report of her omental transposition, in which the omental circulation was anastomosed to the superior thyroid artery and external jugular vein. To our knowledge, this is the first report of omental transposition for moyamoya in which omental vessels are anastomosed to vessels in the neck, as well as the second report of moyamoya in a patient with SMS. © 2017 S. Karger AG, Basel.

  2. Cellulitis as complication of nephrotic syndrome in a pediatric patient

    Science.gov (United States)

    Siregar, R. S.; Daulay, K. R.; Siregar, B.; Ramayani, O. R.; Eyanoer, P. C.

    2018-03-01

    Nephrotic syndrome is a chronic disease that may act as a risk for other major infection in skin, respiratory and urinary tract, while also increasingthe chance for other diseases, like peritonitis, meningitis, and cellulitis. Cellulitis is often caused by Streptococcus β-hemolytic, Staphylococcus aureus, and Escherichia coli. The clinical features of cellulitis marked with redness rash and well-defined borders, pain pressure and swelling. Hypoalbuminemia which occurs due to proteinuria occurred in this patient acts as a risk factor for cellulitis. It has been reported the case of cellulitis as one of the complications of the nephrotic syndrome in the pediatric patient. The treatment has been given to the patient such as antibiotics and supportive therapy and also planned albumin substitution.

  3. Metabolic syndrome in first-time hospitalized patients with depression

    DEFF Research Database (Denmark)

    Nyboe, L; Vestergaard, C H; Lund, Hans

    2016-01-01

    OBJECTIVE: Studies on metabolic syndrome (MetS) in younger patients with depression are few. We examined the prevalence and progression of MetS in first-time hospitalized patients with depression during 1 year of follow-up. Furthermore, we explored putative risk factors of MetS. METHOD: We...... increase in WC and triglycerides and a non-significant increase in the prevalence of MetS. Antipsychotic medication (OR 10.5, 95% CI 1.18-94.14) and low aerobic fitness (OR 0.79, 95% CI 0.68-0.93) were significantly correlated with MetS (P Metabolic syndrome is highly prevalent...... evaluated MetS and its components in first-time hospitalized patients with depression (N = 52) and healthy controls (N = 50) (18-45 years). Physical activity, aerobic fitness, sleeping disturbances, smoking and dietary habits, and psychopharmacological treatment were recorded at baseline for all...

  4. Safety and efficacy of angioplasty with intracoronary stenting in patients with unstable coronary syndromes. Comparison with stable coronary syndromes

    Directory of Open Access Journals (Sweden)

    Luís C. L. Correia

    2000-06-01

    Full Text Available OBJECTIVE: To assess safety and efficacy of coronary angioplasty with stent implantation in unstable coronary syndromes. METHODS: Retrospective analysis of in-hospital and late evolution of 74 patients with unstable coronary syndromes (unstable angina or infarction without elevation of the ST segment undergoing coronary angioplasty with stent placement. These 74 patients were compared with 31 patients with stable coronary syndromes (stable angina or stable silent ischemia undergoing the same procedure. RESULTS: No death and no need for revascularization of the culprit artery occurred in the in-hospital phase. The incidences of acute non-Q-wave myocardial infarction were 1.4% and 3.2% (p=0.6 in the unstable and stable coronary syndrome groups, respectively. In the late follow-up (11.2±7.5 months, the incidences of these events combined were 5.7% in the unstable coronary syndrome group and 6.9% (p=0.8 in the stable coronary syndrome group. In the multivariate analysis, the only variable with a tendency to significance as an event predictor was diabetes mellitus (p=0.07; OR=5.2; 95% CI=0.9-29.9. CONCLUSION: The in-hospital and late evolutions of patients with unstable coronary syndrome undergoing angioplasty with intracoronary stent implantation are similar to those of the stable coronary syndrome group, suggesting that this procedure is safe and efficacious when performed in unstable coronary syndrome patients.

  5. Posterior reversible encephalopathy syndrome in patient

    African Journals Online (AJOL)

    abp

    2015-05-26

    neuroradiologic condition, not commonly reported in the literature. PRES is an uncommon complication of severe preeclampsia/eclampsia. We report the management of one patient with postpartum preeclampsia as an.

  6. Cryptococcal meningitis and cerebral toxoplasmosis in a patient with acquired immune deficiency syndrome.

    Science.gov (United States)

    Bahls, F; Sumi, S M

    1986-01-01

    A 34-year-old homosexual male developed cryptococcal meningitis as the initial manifestation of Acquired Immune Deficiency Syndrome (AIDS). With antifungal therapy he improved. Six weeks later he developed focal motor seizures and progressive hemiplegia. Computer assisted tomography revealed multiple, ring-enhancing, low density lesions. The patient expired and at necropsy he was found to have multiple toxoplasma brain abscesses as well as chronic cryptococcal meningitis. This case demonstrates that in a patient with AIDS with pre-existing central nervous system infection who develops new neurological symptoms the possibility of a second and potentially treatable infection must be considered and its diagnosis pursued vigorously. Images PMID:3958746

  7. Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing.

    Science.gov (United States)

    Lalonde, Emilie; Albrecht, Steffen; Ha, Kevin C H; Jacob, Karine; Bolduc, Nathalie; Polychronakos, Constantin; Dechelotte, Pierre; Majewski, Jacek; Jabado, Nada

    2010-08-01

    Protein coding genes constitute approximately 1% of the human genome but harbor 85% of the mutations with large effects on disease-related traits. Therefore, efficient strategies for selectively sequencing complete coding regions (i.e., "whole exome") have the potential to contribute our understanding of human diseases. We used a method for whole-exome sequencing coupling Agilent whole-exome capture to the Illumina DNA-sequencing platform, and investigated two unrelated fetuses from nonconsanguineous families with Fowler Syndrome (FS), a stereotyped phenotype lethal disease. We report novel germline mutations in feline leukemia virus subgroup C cellular-receptor-family member 2, FLVCR2, which has recently been shown to cause FS. Using this technology, we identified three types of genetic abnormalities: point-mutations, insertions-deletions, and intronic splice-site changes (first pathogenic report using this technology), in the fetuses who both were compound heterozygotes for the disease. Although revealing a high level of allelic heterogeneity and mutational spectrum in FS, this study further illustrates the successful application of whole-exome sequencing to uncover genetic defects in rare Mendelian disorders. Of importance, we show that we can identify genes underlying rare, monogenic and recessive diseases using a limited number of patients (n=2), in the absence of shared genetic heritage and in the presence of allelic heterogeneity.

  8. Comprehensive analysis of ultrasonic vocalizations in a mouse model of fragile X syndrome reveals limited, call type specific deficits.

    Directory of Open Access Journals (Sweden)

    Snigdha Roy

    Full Text Available Fragile X syndrome (FXS is a well-recognized form of inherited mental retardation, caused by a mutation in the fragile X mental retardation 1 (Fmr1 gene. The gene is located on the long arm of the X chromosome and encodes fragile X mental retardation protein (FMRP. Absence of FMRP in fragile X patients as well as in Fmr1 knockout (KO mice results, among other changes, in abnormal dendritic spine formation and altered synaptic plasticity in the neocortex and hippocampus. Clinical features of FXS include cognitive impairment, anxiety, abnormal social interaction, mental retardation, motor coordination and speech articulation deficits. Mouse pups generate ultrasonic vocalizations (USVs when isolated from their mothers. Whether those social ultrasonic vocalizations are deficient in mouse models of FXS is unknown. Here we compared isolation-induced USVs generated by pups of Fmr1-KO mice with those of their wild type (WT littermates. Though the total number of calls was not significantly different between genotypes, a detailed analysis of 10 different categories of calls revealed that loss of Fmr1 expression in mice causes limited and call-type specific deficits in ultrasonic vocalization: the carrier frequency of flat calls was higher, the percentage of downward calls was lower and that the frequency range of complex calls was wider in Fmr1-KO mice compared to their WT littermates.

  9. Metabolic profiling of a myalgic encephalomyelitis/chronic fatigue syndrome discovery cohort reveals disturbances in fatty acid and lipid metabolism.

    Science.gov (United States)

    Germain, Arnaud; Ruppert, David; Levine, Susan M; Hanson, Maureen R

    2017-01-31

    Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) remains a continuum spectrum disease without biomarkers or simple objective tests, and therefore relies on a diagnosis from a set of symptoms to link the assortment of brain and body disorders to ME/CFS. Although recent studies show various affected pathways, the underlying basis of ME/CFS has yet to be established. In this pilot study, we compare plasma metabolic signatures in a discovery cohort, 17 patients and 15 matched controls, and explore potential metabolic perturbations as the aftermath of the complex interactions between genes, transcripts and proteins. This approach to examine the complex array of symptoms and underlying foundation of ME/CFS revealed 74 differentially accumulating metabolites, out of 361 (P metabolism and glycerophospholipid metabolism, combined with primary bile acid metabolism, as well as glyoxylate and dicarboxylate metabolism and a few other pathways, all involved broadly in fatty acid metabolism. Purines, including ADP and ATP, pyrimidines and several amino acid metabolic pathways were found to be significantly disturbed. Finally, glucose and oxaloacetate were two main metabolites affected that have a major effect on sugar and energy levels. Our work provides a prospective path for diagnosis and understanding of the underlying mechanisms of ME/CFS.

  10. [Association of fat distribution with metabolic syndrome in patients with polycystic ovary syndrome].

    Science.gov (United States)

    Luo, Xiaoyan; Xu, Liangzhi

    2012-09-01

    To study the characteristics of the metabolic syndrome (MS) in patients with polycystic ovary syndrome (PCOS). Oral glucose tolerance test (OGTT) was performed in 336 patients with PCOS, and the serum levels triglycerides (TG), total cholesterol, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol and testosterone were measured. The total incidence of MS was 18.8% in these 336 patients with PCOS. The incidence of MS increased with percent body fat (%BF) and lipid accumulation product (LAP) in patients with PCOS. The patients at child-bearing age appeared to have a higher incidence of MS than those in puberty. The muscle distribution coefficient, age, body mass index, and the metabolic parameters were all higher in patients with MS than in those without MS. The bilateral lower limb muscle strength were lower in patients with MS than in those without, but the level of testosterone showed no significant difference between them. The risk of MS increases with BF%, age and LAP in patients with PCOS.

  11. Implantation of cultured thymic fragments in patients with acquired immunodeficiency syndrome

    NARCIS (Netherlands)

    Danner, S. A.; Schuurman, H. J.; Lange, J. M.; Gmelig Meyling, F. H.; Schellekens, P. T.; Huber, J.; Kater, L.

    1986-01-01

    Cultured thymic fragments were implanted in one patient with acquired immunodeficiency syndrome (AIDS)-related complex (ARC) and in eight AIDS patients with opportunistic infections (OIs, four patients), Kaposi's sarcoma (KS, two patients), or both (two patients). Thereafter, objective clinical

  12. Cushing's Syndrome in a Morbidly Obese Patient Undergoing Evaluation before Bariatric Surgery

    Directory of Open Access Journals (Sweden)

    Livia Borsoi

    2014-06-01

    Full Text Available Objective: Cushing's syndrome (CS is extremely rare in morbidly obese patients. To date, no occurrences in obese patients with BMI above 60 kg/m2 have been reported in the literature. Case Report: This case report describes a patient who was admitted to the ward of the Clinical Division of Endocrinology and Metabolism of the Medical University of Vienna in preparation for bariatric surgery. The patient was a 49-year-old female who showed morbid obesity (BMI 61.6 kg/m2, hypertension, and substituted hypothyroidism. Preoperative work-up revealed CS due to an adrenal adenoma. Therefore, the patient underwent unilateral adrenalectomy followed by bariatric surgery 6 months later. Conclusion: Since undiagnosed CS might result in severe perioperative complications in a population already at increased risk, this case report underlines the importance of careful endocrine evaluation of morbidly obese patients. After all, even rare endocrine causes should be excluded.

  13. Therapy-associated myelodysplastic syndrome with monosomy 7 arising in a Muir-Torre Syndrome patient carryingSETBP1mutation.

    Science.gov (United States)

    Ullman, David; Baumgartner, Erin; Wnukowski, Nicholas; Koenig, Gabe; Mikhail, Fady M; Pavlidakey, Peter; Peker, Deniz

    2018-02-01

    Muir-Torre Syndrome (MTS) is a rare hereditary autosomal dominant cancer syndrome and is linked to hereditary non-polyposis colorectal carcinoma (Lynch Syndrome). Individuals develop various skin neoplasms in addition to colorectal, endometrial and upper gastrointestinal malignancies. Therapy-associated myelodysplastic syndrome (T-MDS) is an aggressive hematologic malignancy and is considered a pre-leukemic phase. T-MDS is associated with prior exposure to chemo- and radiotherapy that potentially results in DNA damage. The current case report presents a 74-year-old male MTS patient with prior history of solid tumors and radiation therapy with new onset cytopenia. A subsequent bone marrow biopsy revealed multilineage dysplasia with a high blast count and a diagnosis of high grade T-MDS was rendered. FISH and G-banded karyotype analyses revealed 5q deletion and monosomy 7. This is a unique case of T-MDS arising in the setting of MTS. Secondary malignancies including MDS and acute leukemia may occur in cancer survivors and are often associated with an unfavorable prognosis. This case demonstrates the need to be aware of the risk of secondary hematologic malignancies in cancer patients and a thorough clinical and lab work-up are warranted in patients with persistent or transfusion requiring cytopenia(s).

  14. High prevalence of the metabolic syndrome in HIV-infected patients: impact of different definitions of the metabolic syndrome

    DEFF Research Database (Denmark)

    Worm, Signe H.Westring; Friis-Møller, Nina; Bruyand, Mathias

    2010-01-01

    This study describes the characteristics of the metabolic syndrome in HIV-positive patients in the Data Collection on Adverse Events of Anti-HIV Drugs study and discusses the impact of different methodological approaches on estimates of the prevalence of metabolic syndrome over time.......This study describes the characteristics of the metabolic syndrome in HIV-positive patients in the Data Collection on Adverse Events of Anti-HIV Drugs study and discusses the impact of different methodological approaches on estimates of the prevalence of metabolic syndrome over time....

  15. Surgical treatment for medically refractory focal epilepsy in a patient with fragile X syndrome.

    Science.gov (United States)

    Kenmuir, Cynthia; Richardson, Mark; Ghearing, Gena

    2015-10-01

    Medication resistant temporal lobe epilepsy occurs in a small population of patients with fragile X syndrome. We present the case of a 24-year-old man with medically refractory temporal lobe epilepsy and fragile X syndrome who underwent left anterior temporal lobectomy resulting in cessation of seizures. Our patient was diagnosed with fragile X syndrome with a fully mutated, fully methylated FMR1 gene resulting in 572 CGG repeats. He developed seizures initially controlled with Depakote monotherapy, but progressed to become medically refractive to combination treatment with Depakote, lamotrigine and zonisamide. Prolonged video EEG monitoring revealed interictal left temporal sharp waves and slowing as well as subclinical and clinical seizures, each with left temporal onset. 3T MRI was consistent with left mesial temporal sclerosis. After discussing the case in our multidisciplinary surgical epilepsy conference, he was referred for presurgical evaluation including neuropsychological testing and Wada testing. He underwent an asleep left anterior temporal lobectomy, sparing the superior temporal gyrus. Pathology showed neuronal loss and gliosis in the hippocampus and amygdala. Twelve months after surgery, the patient has not experienced a seizure. He is described by his parents as less perseverative and less restless. We have presented the case of a 24 year-old-man with fragile X syndrome who underwent successful left anterior temporal lobectomy for the treatment of medically refractory epilepsy who is now seizure free without further functional impairment. This case report demonstrates the feasibility of surgical treatment for a patient with comorbid fragile X syndrome and mesial temporal sclerosis. Copyright © 2015 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  16. Cochlear implantation in patient with Dandy-walker syndrome

    Directory of Open Access Journals (Sweden)

    Oliveira, Adriana Kosma Pires de

    2012-01-01

    Full Text Available Introduction: Dandy Walker Syndrome is a congenital abnormality in the central nervous system, characterized by a deficiency in the development of middle cerebelar structures, cystic dilatation of the posterior pit communicating with the fourth ventricle and upward shift of the transverse sinuses, tentorium and dyes. Among the clinical signs are occipital protuberances, a progressive increase of the skull, bowing before the fontanels, papilledema, ataxia, gait disturbances, nystagmus, and intellectual impairment. Objectives: To describe a case of female patient, 13 years old with a diagnosis of this syndrome and bilateral hearing loss underwent cochlear implant surgery under local anesthesia and sedation. Case Report: CGS, 13 years old female was referred to the Otolaryngological Department of Otolaryngology Institute of Parana with a diagnosis of "Dandy-Walker syndrome" for Otolaryngological evaluation for bilateral hearing loss with no response to the use of hearing aids. Final Comments: The field of cochlear implants is growing rapidly. We believe that the presence of Dandy-Walker syndrome cannot be considered a contraindication to the performance of cochlear implant surgery, and there were no surgical complications due to neurological disorders with very favorable results for the patient who exhibits excellent discrimination. It has less need for lip reading with improvement in speech quality.

  17. Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).

    Science.gov (United States)

    Elouej, Sahar; Beleza-Meireles, Ana; Caswell, Richard; Colclough, Kevin; Ellard, Sian; Desvignes, Jean Pierre; Béroud, Christophe; Lévy, Nicolas; Mohammed, Shehla; De Sandre-Giovannoli, Annachiara

    2017-06-01

    of POLD1 exon 15 revealed the recurrent in-frame deletion (c.1812_1814del, p.S605del). Our work highlights that mutations in different POLD1 domains can lead to phenotypic variability, ranging from dominantly inherited cancer predisposition syndromes, to mild MDPL phenotypes without lifespan reduction, to very severe MDPL syndromes with major premature aging features. These results also suggest that POLD1 gene testing should be considered in patients presenting with severe progeroid features. Copyright © 2017 Elsevier Inc. All rights reserved.

  18. Clinical, pathological, and genetic evaluations of Chinese patient with otodental syndrome and multiple complex odontoma

    Science.gov (United States)

    Liu, Anqi; Wu, Meiling; Guo, Xiaohe; Guo, Hao; Zhou, Zhifei; Wei, Kewen; Xuan, Kun

    2017-01-01

    Abstract Otodental syndrome is a rare autosomal-dominant disease characterized by globodontia, associated with sensorineural, high-frequency hearing loss. Here, we describe the clinical, pathological, and genetic evaluations of a 9-year-old girl with otodental syndrome and multiple complex odontoma. The patient presented with a draining sinus tract in her left cheek, globodontia, and hearing loss. The odontomas which caused the cutaneous sinus tracts were extracted because of the odontogenic infection. The extracted odontoma and primary tooth was studied by micro-CT and further observed histopathologically. The micro-CT findings revealed that the primary tooth had three crowns with two separated pulp chambers, and their root canals were partially fused. The histological findings showed abnormal morphologies of odontoblasts and dentin, hyperplasia of enamel, and malformation of odontogenic epithelium. Furthermore, DNA sequencing and analyze of deafness associated gene GJB2, GJB3, and PDS had not revealed any SNP or mutation; but exon 3 of the causative gene FGF3 could not be amplified, which may be associated with the microdeletion at chromosome 11q13.3. Three month after surgery, the patient was found to be asymptomatic and even the evidence of the extra-oral sinus had disappeared. The dental abnormality of otodental syndrome included congenital missing teeth, globodontia, and multiple complex odontoma. Globodontia exhibited characteristic features of fusion teeth. In addition, gene FGF3 haploinsufficiency was likely to be the cause of otodental syndrome. The report provides some new information in the field of otodental syndrome, which would make dentists more familiar with this disease. PMID:28151902

  19. Single-Nucleotide Mutations in Reveal Novel Functions and Regulatory Mechanisms of the Fragile X Syndrome Protein FMRP

    Directory of Open Access Journals (Sweden)

    Joshua A. Suhl

    2015-01-01

    Full Text Available Fragile X syndrome is a monogenic disorder and a common cause of intellectual disability. Despite nearly 25 years of research on FMR1, the gene underlying the syndrome, very few pathological mutations other than the typical CGG-repeat expansion have been reported. This is in contrast to other X-linked, monogenic, intellectual disability disorders, such as Rett syndrome, where many point mutations have been validated as causative of the disorder. As technology has improved and significantly driven down the cost of sequencing, allowing for whole genes to be sequenced with relative ease, in-depth sequencing studies on FMR1 have recently been performed. These studies have led to the identification of novel variants in FMR1 , where some of which have been functionally evaluated and are likely pathogenic. In this review, we discuss recently identified FMR1 variants, the ways these novel variants cause dysfunction, and how they reveal new regulatory mechanisms and functionalities of the gene.

  20. Impact of long-term stress in Takotsubo syndrome: Experience of patients.

    Science.gov (United States)

    Wallström, Sara; Ulin, Kerstin; Määttä, Sylvia; Omerovic, Elmir; Ekman, Inger

    2016-12-01

    The connection between stress and disease has been part of folk wisdom for a long time and has even made its way into our language with phrases such as 'scared to death' and 'a broken heart'. Takotsubo syndrome is a form of acute, reversible heart failure characterized by ballooning of the left ventricle. Post-menopausal women are primarily affected, but cases have been described in both sexes and at all ages. The complete pathophysiology is unknown, but the disease has been connected to psychological or physical stress and a surge in catecholamines. Despite the strong connection with stress, knowledge about the life of patients before the onset of Takotsubo syndrome is lacking. The aim of this study was to describe and interpret patients' narratives about long-term stress experienced before the onset of Takotsubo syndrome. Nineteen people diagnosed with Takotsubo syndrome were interviewed. The narrative interviews were recorded and transcribed verbatim. The resulting texts were analysed using phenomenological hermeneutics. The analysis revealed that the interviewees lived under stressful circumstances, characterized by feeling burdened by responsibilities, injustice and uncertainty, long before the onset of Takotsubo syndrome. This long-term stress wore down the defences of the interviewees to the degree that their capacity was exhausted and the smallest stressor could 'tip them over the edge'. The findings indicated that the social structure of gender possibly contributed to the interviewees' condition. These findings indicated that long-term stressful circumstances may cause vulnerability to acute psychological or physical stressors and, subsequently, to the onset of Takotsubo syndrome. © The European Society of Cardiology 2015.

  1. Anesthetic management in a patient with Kindler′s syndrome

    Directory of Open Access Journals (Sweden)

    Sohan Lal Solanki

    2011-01-01

    Full Text Available A 35-year-old male with pan-anterior urethral stricture was scheduled to undergo perineal urethrostomy. He was a known case of Kindler′s syndrome since infancy. He was having a history of blister formation, extensive poikiloderma and progressive cutaneous atrophy since childhood. He had a tendency of trauma-induced blisters with clear or hemorrhagic contents that healed with scarring. The fingers were sclerodermiform with dystrophic nails and inability to completely clench the fist. Airway examination revealed thyromental distance of 7 cm with limited neck extension, limited mouth opening and mallampatti class III with a fixed large tongue. He was reported as grade IV Cormack and Lehane laryngoscopic on previous anesthesia exposure. We described the anesthetic management of such case on guidelines for epidermolysis bullosa. In the operating room, an 18-G cannula was secured in the right upper limb using Coban TM Wrap. The T-piece of the cannula was than inserted into the slit and the tape was wrapped around the extremity. The ECG electrodes were placed on the limbs and fixed with Coban TM . Noninvasive blood pressure cuff was applied over the wrap after wrapping the arm with Webril® cotton. Oral fiberoptic tracheal intubation was done after lubricating the laryngoscope generously with a water-based lubricant with 7-mm endotracheal tube. Surgery proceeded without any complication. After reversing the residual neuromuscular block, trachea was extubated once the patient became awake. He was kept in the postanesthesia care unit for 2 hours and then shifted to urology ward.

  2. Giant pseudomeningocele causing urinary obstruction in a patient with Marfan syndrome.

    Science.gov (United States)

    Stone, Jeremy G; Bergmann, Liisa L; Takamori, Ryan; Donovan, Daniel J

    2015-07-01

    Defective collagen biosynthesis in Marfan syndrome predisposes to dural defects such as dural ectasia, meningocele, and pseudomeningocele; thus, an increased index of suspicion for these conditions should be present in the clinical setting of Marfan syndrome. The authors describe a young woman with Marfan syndrome who was being treated with anticoagulants for a prosthetic heart valve and who presented with a spontaneous retroperitoneal hemorrhage requiring surgical evacuation. No CSF leak was encountered at surgery, but she developed progressively more severe positional headaches over the following year. She then experienced the sudden onset of acute urinary obstruction, at which time CT revealed a 17 × 15 × 13-cm presacral pseudomeningocele communicating with the thecal sac through a sacral bone defect. An anterior surgical approach was used for drainage of the pseudomeningocele as well as for primary closure of the dural defect with a bovine pericardial patch and autologous subcutaneous fat graft. After a short period of lumbar subarachnoid drainage of the CSF, the patient was able to resume normal activity without recurrent symptoms. To the authors' knowledge, such a pseudomeningocele in a patient with Marfan syndrome has been reported only twice, and this case features the largest pseudomeningocele to date. They also review the pertinent literature regarding presentation, diagnosis, and management of these lesions.

  3. Metabolomics reveals reduction of metabolic oxidation in women with polycystic ovary syndrome after pioglitazone-flutamide-metformin polytherapy.

    Directory of Open Access Journals (Sweden)

    Maria Vinaixa

    Full Text Available Polycystic ovary syndrome (PCOS is a variable disorder characterized by a broad spectrum of anomalies, including hyperandrogenemia, insulin resistance, dyslipidemia, body adiposity, low-grade inflammation and increased cardiovascular disease risks. Recently, a new polytherapy consisting of low-dose flutamide, metformin and pioglitazone in combination with an estro-progestagen resulted in the regulation of endocrine clinical markers in young and non-obese PCOS women. However, the metabolic processes involved in this phenotypic amelioration remain unidentified. In this work, we used NMR and MS-based untargeted metabolomics to study serum samples of young non-obese PCOS women prior to and at the end of a 30 months polytherapy receiving low-dose flutamide, metformin and pioglitazone in combination with an estro-progestagen. Our results reveal that the treatment decreased the levels of oxidized LDL particles in serum, as well as downstream metabolic oxidation products of LDL particles such as 9- and 13-HODE, azelaic acid and glutaric acid. In contrast, the radiuses of small dense LDL and large HDL particles were substantially increased after the treatment. Clinical and endocrine-metabolic markers were also monitored, showing that the level of HDL cholesterol was increased after the treatment, whereas the level of androgens and the carotid intima-media thickness were reduced. Significantly, the abundance of azelaic acid and the carotid intima-media thickness resulted in a high degree of correlation. Altogether, our results reveal that this new polytherapy markedly reverts the oxidant status of untreated PCOS women, and potentially improves the pro-atherosclerosis condition in these patients.

  4. Marfan syndrome. Part 2: treatment and management of patients.

    Science.gov (United States)

    Cañadas, Victoria; Vilacosta, Isidre; Bruna, Isidoro; Fuster, Valentin

    2010-05-01

    Aortic disease is the main cause of death among patients with Marfan syndrome. Before the development of open surgery, most patients died in the fourth decade of life. Improvements in surgical techniques have facilitated prophylactic surgery and have dramatically changed the life expectancy of patients with Marfan syndrome. Valve-sparing techniques are becoming the standard surgical treatment for these patients, since the operative and long-term results are comparable with those obtained with the Bentall and De Bono procedure and their theoretical advantages over the Bentall and De Bono procedure are attractive for young patients. Distal aortic complications still cause substantial morbidity in patients who have undergone surgery. On the other hand, several medical approaches have appeared as alternatives or adjuncts to the standard treatment with beta-blockers. Mouse models of the disease have shown that the angiotensin II receptor blocker losartan can rescue the phenotype. Among female patients, pregnancy deserves special consideration. Aortic dissection occurs mainly in the third trimester of gestation and in patients with dilated aortas. As aortic dissection carries a high risk of maternal mortality and fetal demise, prophylactic aortic surgery is recommended before attempting pregnancy for those women with an aortic diameter exceeding 40 mm.

  5. Joubert syndrome: Clinical and radiological characteristics of nine patients

    Directory of Open Access Journals (Sweden)

    Ahmed Farag Elhassanien

    2013-01-01

    Full Text Available Background: Joubert Syndrome (JS is a rare genetic developmental disorder, first identified in 1969. In patients with JS, certain regions of the brain (mainly cerebellar vermis and brainstem are underdeveloped or malformed. This can lead to impaired attention, visual, spatial, motor, language and social functional skills. JS is characterized by a host of features, many of which do not occur in every patient. Aim of the Study: To spotlight and increase awareness of clinical profile and neuroimaging findings of children with Joubert syndrome. Methods: This is a retrospective case series study of patients with JS who attended the Pediatric Neurology Clinic in Aladan and Alfarawanya Hospitals in Kuwait, from September 2007 to September 2012. Clinical and radiological data were obtained from the patient medical records. Results: Cerebellar vermis hypoplasia/aplasia and apnea were present in all patients, polydactly in 3 of 16, renal problems with cysts in 5 patients and 11 of 16 had abnormal electroretinograms (ERGs. Blood investigations of organic acids, amino acids and very-long-chain fatty acid, were normal in the all the nine patients. Conclusion: JS is a rare genetic brain malformation with association of retinal dystrophy and renal abnormalities. The retinal dystrophy may be progressive. The prognosis of patients depends mainly on the degree of brain malformation.

  6. Delusional Jealousy (Othello Syndrome) in 67 Patients with Parkinson's Disease.

    Science.gov (United States)

    Kataoka, Hiroshi; Sugie, Kazuma

    2018-01-01

    Othello syndrome (OS) is a type of paranoid delusional jealousy, characterized by the false absolute certainty of the infidelity of a partner. Because OS has infrequently occurred in patients with Parkinson's disease (PD), the characteristics of OS in PD remain unclear. We reviewed the clinical characteristics of this syndrome in PD. We reviewed 67 patients who had PD with OS. OS was more common in men (45 patients) than in women (22 patients), and it frequently occurred in middle-aged patients. Until the onset of OS, the duration of PD (range, 2-19.8 years) and the duration of treatment with PD medications (range, 2 months to 18.5 years) varied. At the onset of OS, cognition was preserved in most patients. 42 of 47 patients had other psychiatric disorders in addition to OS, and 5 patients had isolated OS. Persecutory or other paranoid delusions developed in 34 patients with OS. OS was associated with PD medication in 25 of 26 patients, especially in patients, used the dopamine agonists. The dose of the PD medication associated with OS was decreased or these drugs were withdrawn to facilitate the treatment of OS. In most patients, OS disappeared or the severity of OS was reduced. OS is infrequent in patients with PD, but is likely to be easily detected because OS is commonly accompanied by persistent paranoid and sexual delusions. When clinicians encounter such patients, the withdrawal or reduction of dopamine agonists should be attempted, and if necessary, additional treatment with clozapine is recommended.

  7. Decreased sweating in seven patients with Laron syndrome

    DEFF Research Database (Denmark)

    Main, K M; Price, D A; Savage, M O

    1993-01-01

    Previous studies have shown that sweat secretion was reduced in patients with GH deficiency and increased during GH treatment, indicating an influence of GH on sweat gland function. Thus, patients with GH deficiency have impaired thermoregulation. We report on sweat secretion rates (SSRs) in seven......). These observations further supported the hypothesis that sweat gland function in humans is under the influence of the GH-insulin-like growth factor-I axis. It remains to be seen whether the decrease in SSR also leads to altered thermoregulation in patients with Laron syndrome....

  8. Cataract surgery in patients with pseudoexfoliation syndrome: current updates

    Directory of Open Access Journals (Sweden)

    Fontana L

    2017-07-01

    Full Text Available Luigi Fontana, Marco Coassin, Alfonso Iovieno, Antonio Moramarco, Luca Cimino Ophthalmology Unit, Arcispedale Santa Maria Nuova – IRCCS, Reggio Emilia, Italy Abstract: Pseudoexfoliation is a ubiquitous syndrome of multifactorial origin affecting elderly people by increasing the risk of cataract and secondary glaucoma development. Despite modern techniques and technologies for cataract surgery, pseudoexfoliation syndrome represents a challenge for surgeons because of the increased weakness of the zonular apparatus and limited pupil dilation. Due to the inherent difficulties during surgery, the risk of vitreous loss in these patients is several times higher than in cataract patients without pseudoexfoliation. Using currently available surgical devices (ophthalmic viscosurgical device, iris retractors and ring dilators, capsular tension ring, etc., the risk of intraoperative complications may be much reduced, allowing the surgeon to handle difficult cases with greater confidence and safety. This review analyzes the methodologic approach to the patient with zonular laxity with the aim of providing useful advices to limit the risks of intraoperative and postoperative complications. From the preoperative planning, to the intraoperative management of the small pupil and phacodonesis, and to the postoperative correction of capsule phimosis and intraocular lens dislocation, a step approach to the surgical management of pseudoexfoliation patients is illustrated. Keywords: pseudoexfoliation syndrome, cataract surgery, zonular laxity, intraocular lens implant, complications

  9. A patient with WPW syndrome and coronary artery disease

    International Nuclear Information System (INIS)

    Zarebinski, M.; Krupienicz, A.; Marciniak, W.; Ostrowski, M.

    1993-01-01

    A 61-year-old patient with Wolff-Parkinson-White's syndrome, and hypertension was admitted to the CCU, because of the first episode of substernal chest pain. ECG was deformed by Wolff-Parkinson-White's syndrome, type B, with accessory pathway located on the right side, without evolution. Serum enzymes remained low. Echocardiography showed akinesis of the posterior wall and hypokinesis of the lateral wall (the same contraction disorders were described in previous echocardiographical examination 5 years ago), it was observed that the first portion of myocardium to contract was the base of the right ventricle. To elucidate the etiology of the contraction disorders, scintigraphy of the heart, using thallium 201, was performed, showing normal perfusion of the myocardium. To illustrate the dependence of the contraction disorders and abnormal depolarization pattern of the heart, echocardiographical examination was repeated, confirming the previous results, then 100 mg of Ajmaline was given to the patient intravenously, and echocardiographical examination was continued. Administration of the drug caused antidromic atrioventricular re-entrant tachycardia during which the lateral wall of the heart had been contracting properly. This case shows contraction disorders of the heart caused by the abnormal depolarization pattern, resulting from the presence of accessory pathway. It also illustrates the diagnostic difficulties in patients with Wolff-Parkinson-White's syndrome and suspected myocardial infarction, at the same time showing that scintigraphy of the heart might be very helpful in such patients. This case confirms the usefulness of echocardiography for localization of the accessory pathway. (author)

  10. Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture.

    Directory of Open Access Journals (Sweden)

    Lea K Davis

    2013-10-01

    Full Text Available The direct estimation of heritability from genome-wide common variant data as implemented in the program Genome-wide Complex Trait Analysis (GCTA has provided a means to quantify heritability attributable to all interrogated variants. We have quantified the variance in liability to disease explained by all SNPs for two phenotypically-related neurobehavioral disorders, obsessive-compulsive disorder (OCD and Tourette Syndrome (TS, using GCTA. Our analysis yielded a heritability point estimate of 0.58 (se = 0.09, p = 5.64e-12 for TS, and 0.37 (se = 0.07, p = 1.5e-07 for OCD. In addition, we conducted multiple genomic partitioning analyses to identify genomic elements that concentrate this heritability. We examined genomic architectures of TS and OCD by chromosome, MAF bin, and functional annotations. In addition, we assessed heritability for early onset and adult onset OCD. Among other notable results, we found that SNPs with a minor allele frequency of less than 5% accounted for 21% of the TS heritability and 0% of the OCD heritability. Additionally, we identified a significant contribution to TS and OCD heritability by variants significantly associated with gene expression in two regions of the brain (parietal cortex and cerebellum for which we had available expression quantitative trait loci (eQTLs. Finally we analyzed the genetic correlation between TS and OCD, revealing a genetic correlation of 0.41 (se = 0.15, p = 0.002. These results are very close to previous heritability estimates for TS and OCD based on twin and family studies, suggesting that very little, if any, heritability is truly missing (i.e., unassayed from TS and OCD GWAS studies of common variation. The results also indicate that there is some genetic overlap between these two phenotypically-related neuropsychiatric disorders, but suggest that the two disorders have distinct genetic architectures.

  11. Partitioning the Heritability of Tourette Syndrome and Obsessive Compulsive Disorder Reveals Differences in Genetic Architecture

    Science.gov (United States)

    Davis, Lea K.; Yu, Dongmei; Keenan, Clare L.; Gamazon, Eric R.; Konkashbaev, Anuar I.; Derks, Eske M.; Neale, Benjamin M.; Yang, Jian; Lee, S. Hong; Evans, Patrick; Barr, Cathy L.; Bellodi, Laura; Benarroch, Fortu; Berrio, Gabriel Bedoya; Bienvenu, Oscar J.; Bloch, Michael H.; Blom, Rianne M.; Bruun, Ruth D.; Budman, Cathy L.; Camarena, Beatriz; Campbell, Desmond; Cappi, Carolina; Cardona Silgado, Julio C.; Cath, Danielle C.; Cavallini, Maria C.; Chavira, Denise A.; Chouinard, Sylvain; Conti, David V.; Cook, Edwin H.; Coric, Vladimir; Cullen, Bernadette A.; Deforce, Dieter; Delorme, Richard; Dion, Yves; Edlund, Christopher K.; Egberts, Karin; Falkai, Peter; Fernandez, Thomas V.; Gallagher, Patience J.; Garrido, Helena; Geller, Daniel; Girard, Simon L.; Grabe, Hans J.; Grados, Marco A.; Greenberg, Benjamin D.; Gross-Tsur, Varda; Haddad, Stephen; Heiman, Gary A.; Hemmings, Sian M. J.; Hounie, Ana G.; Illmann, Cornelia; Jankovic, Joseph; Jenike, Michael A.; Kennedy, James L.; King, Robert A.; Kremeyer, Barbara; Kurlan, Roger; Lanzagorta, Nuria; Leboyer, Marion; Leckman, James F.; Lennertz, Leonhard; Liu, Chunyu; Lochner, Christine; Lowe, Thomas L.; Macciardi, Fabio; McCracken, James T.; McGrath, Lauren M.; Mesa Restrepo, Sandra C.; Moessner, Rainald; Morgan, Jubel; Muller, Heike; Murphy, Dennis L.; Naarden, Allan L.; Ochoa, William Cornejo; Ophoff, Roel A.; Osiecki, Lisa; Pakstis, Andrew J.; Pato, Michele T.; Pato, Carlos N.; Piacentini, John; Pittenger, Christopher; Pollak, Yehuda; Rauch, Scott L.; Renner, Tobias J.; Reus, Victor I.; Richter, Margaret A.; Riddle, Mark A.; Robertson, Mary M.; Romero, Roxana; Rosàrio, Maria C.; Rosenberg, David; Rouleau, Guy A.; Ruhrmann, Stephan; Ruiz-Linares, Andres; Sampaio, Aline S.; Samuels, Jack; Sandor, Paul; Sheppard, Brooke; Singer, Harvey S.; Smit, Jan H.; Stein, Dan J.; Strengman, E.; Tischfield, Jay A.; Valencia Duarte, Ana V.; Vallada, Homero; Van Nieuwerburgh, Filip; Veenstra-VanderWeele, Jeremy; Walitza, Susanne; Wang, Ying; Wendland, Jens R.; Westenberg, Herman G. M.; Shugart, Yin Yao; Miguel, Euripedes C.; McMahon, William; Wagner, Michael; Nicolini, Humberto; Posthuma, Danielle; Hanna, Gregory L.; Heutink, Peter; Denys, Damiaan; Arnold, Paul D.; Oostra, Ben A.; Nestadt, Gerald; Freimer, Nelson B.; Pauls, David L.; Wray, Naomi R.

    2013-01-01

    The direct estimation of heritability from genome-wide common variant data as implemented in the program Genome-wide Complex Trait Analysis (GCTA) has provided a means to quantify heritability attributable to all interrogated variants. We have quantified the variance in liability to disease explained by all SNPs for two phenotypically-related neurobehavioral disorders, obsessive-compulsive disorder (OCD) and Tourette Syndrome (TS), using GCTA. Our analysis yielded a heritability point estimate of 0.58 (se = 0.09, p = 5.64e-12) for TS, and 0.37 (se = 0.07, p = 1.5e-07) for OCD. In addition, we conducted multiple genomic partitioning analyses to identify genomic elements that concentrate this heritability. We examined genomic architectures of TS and OCD by chromosome, MAF bin, and functional annotations. In addition, we assessed heritability for early onset and adult onset OCD. Among other notable results, we found that SNPs with a minor allele frequency of less than 5% accounted for 21% of the TS heritability and 0% of the OCD heritability. Additionally, we identified a significant contribution to TS and OCD heritability by variants significantly associated with gene expression in two regions of the brain (parietal cortex and cerebellum) for which we had available expression quantitative trait loci (eQTLs). Finally we analyzed the genetic correlation between TS and OCD, revealing a genetic correlation of 0.41 (se = 0.15, p = 0.002). These results are very close to previous heritability estimates for TS and OCD based on twin and family studies, suggesting that very little, if any, heritability is truly missing (i.e., unassayed) from TS and OCD GWAS studies of common variation. The results also indicate that there is some genetic overlap between these two phenotypically-related neuropsychiatric disorders, but suggest that the two disorders have distinct genetic architectures. PMID:24204291

  12. Hemispherectomy in pediatric patients with epilepsy: a study of 45 cases with special emphasis on epileptic syndromes.

    Science.gov (United States)

    Caraballo, Roberto; Bartuluchi, Marcelo; Cersósimo, Ricardo; Soraru, Alejandra; Pomata, Hugo

    2011-12-01

    In this study we report the clinical outcomes of hemispherectomy for epilepsy in pediatric patients with special emphasis on the epileptic syndromes and their etiologies. We retrospectively studied 45 patients with medically refractory epilepsy with hemispheric lesions who underwent hemispherectomy at the "Hospital de Pediatría Prof. Dr. Juan P. Garrahan", Buenos Aires, Argentina between February 1990 and February 2010. Patients had been assessed using a standard protocol involving clinical, neuroradiological, neurophysiological, and neuropsychological teams. Twenty-seven males and 18 females with a mean age of 8.5 years (range, 2 months to 18 years) who underwent epilepsy surgery for refractory epilepsy were assessed. The mean time of follow-up was 9.5 years (range, 1 to 16 years). The following epileptic syndromes were recognized: West syndrome in 15 patients (33.5%), Rasmussen syndrome in 13 (29%), focal symptomatic epilepsy in 8 (17.5%), startle epilepsy in 6 (13.5%), Lennox-Gastaut syndrome in 2 (5%), and continuous spikes and waves during slow sleep in 1 (2%). The surgical specimens revealed malformations of cortical development in 18 patients (40%), Rasmussen encephalitis in 13 (29%), porencephalic lesions in 10 (22%), gliosis in 2 (4.4%), tumor in 1 (2.2%), and Sturge-Weber syndrome in 1 (2.2%). The outcome of hemispherectomy in pediatric patients is good for those with refractory epilepsies, such as West syndrome, Lennox-Gastaut syndrome, epileptic encephalopathy with continuous spikes and waves during slow sleep, and startle epilepsy arising from a hemispheric lesion associated with hemiplegia.

  13. Reciprocal Deletion and Duplication of 17p11.2-11.2: Korean Patients with Smith-Magenis Syndrome and Potocki-Lupski Syndrome

    OpenAIRE

    Lee, Cha Gon; Park, Sang-Jin; Yun, Jun-No; Yim, Shin-Young; Sohn, Young Bae

    2012-01-01

    Deletion and duplication of the -3.7-Mb region in 17p11.2 result in two reciprocal syndrome, Smith-Magenis syndrome and Potocki-Lupski syndrome. Smith-Magenis syndrome is a well-known developmental disorder. Potocki-Lupski syndrome has recently been recognized as a microduplication syndrome that is a reciprocal disease of Smith-Magenis syndrome. In this paper, we report on the clinical and cytogenetic features of two Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome. Pat...

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

    NARCIS (Netherlands)

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

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

  15. Restless legs syndrome is highly prevalent in patients with post-polio syndrome.

    Science.gov (United States)

    Marin, Luis Fabiano; Carvalho, Luciane B C; Prado, Lucila B F; Oliveira, Acary S B; Prado, Gilmar F

    2017-09-01

    Few studies have quantified the prevalence of restless legs syndrome (RLS) in patients with post-polio syndrome (PPS). Our objective was to assess the prevalence and severity of RLS in patients with PPS and to examine the demographic characteristics of this population. This was a cross-sectional study conducted from April 2010 to May 2012 at the outpatient Neuromuscular Disorders clinic of Universidade Federal de São Paulo, São Paulo, Brazil. We evaluated 119 patients with PPS, consecutively recruited, and investigated for RLS based on the diagnostic criteria established by the International Restless Legs Syndrome Study Group (IRLSSG). Patients were evaluated with the Brazilian version of the IRLSSG severity scale. The prevalence of RLS was 36% (n = 43; 32 women and 11 men). The ages at onset of RLS (median = 41 years) and PPS (median = 41 years) were concurrent, and the correlation between onset of symptoms of RLS and onset of symptoms of PPS was positive and very strong (Spearman r = 0.93, p = 0.01). The median RLS severity was 23 (range, 20-28). Low educational achievement and depression were predictive of RLS development. In the largest population of patients with PPS studied to date, our results indicate a high prevalence of RLS, marked disease severity, and concomitant onset of both conditions in many patients with PPS. Further studies are needed to elucidate a possible pathophysiologic mechanism linking these two conditions. We suggest that all post-polio patients with sensory and motor complaints in the legs be investigated for RLS. Copyright © 2017 Elsevier B.V. All rights reserved.

  16. Management of patellar problems in skeletally mature patients with nail-patella syndrome.

    Science.gov (United States)

    Louboutin, Lucie; Wascher, Daniel; Neyret, Philippe

    2017-10-01

    Nail-patella syndrome (NPS) or hereditary onychoosteodysplasia is a rare autosomal dominant disease, characterized by a tetrad of findings, which include fingernail abnormalities, hypoplasia of the patellae, radial head dislocation and prominent iliac horns. Most of the literature on the treatment of patellar problems in NPS concerns paediatric patients, and there is no standard treatment algorithm for adult patients. We reviewed the charts of skeletally mature patients with NPS who presented to our clinic. We reviewed the presenting complaints, the physical examination findings and the radiographic imaging. We identified seven skeletally mature patients with NPS who presented with patellofemoral complaints. Their symptoms were instability, pain, or a combination of the two. Examination and imaging revealed a wide range of severity but included patellar instability and patellar arthritis. In our series, milder forms of the disease were treated with non-operative measures, but the majority of our patients required surgery including medial patellofemoral ligament reconstruction, tibial tuberosity transposition, patellofemoral and total knee arthroplasty. At midterm follow-up, most patients had good results. Nail-patella syndrome has a wide range of presentations and severity in skeletally mature patients. Knee surgeons should be familiar with the spectrum of clinical presentation and the range of treatment options available in order to provide optimum treatment for patients with this disorder. IV.

  17. [CONNECTIVE TISSUE METABOLIC FEATURES IN CLIMACTERIC SYNDROME'S PATIENTS WITH VARIOUS TYPES OF MENOPAUSE].

    Science.gov (United States)

    Gryshchenko, O; Vasylieva, I; Gryshchuk, K

    2017-04-01

    The purpose of the study was investigation of the connective tissue metabolic features among women with menopausal syndrome (MS) and MS, in which the arthropathic syndrome is leading and comparative analysis of the connective tissue indicators exchange during menopause caused in a surgical and natural way. We examined 70 women in total, menopause duration they accounted for 1,95±1,1 years, it came both as natural, and as a result of a surgery. The main group included 40 women with MS with leading arthropathic syndrome. The patients' modified menopausal index was calculated (MMI), the functional condition of the joints was assessed on a scale-questionnaire with the calculation of the clinical-functional index of WOMAC; the quantitative content and qualitative composition of glycosaminoglycans in the serum, the urinary excretion of hydroxyproline and uronic acids were determined. To determine the degree of deviation from the control (standard) indicators was used non-parametric Mann-Whitney criterion and factor analysis (main components method). It was revealed that all patients have an increased content of glycosaminoglycans and glycoprotein in the blood, which corresponds to the general age-related rearrangement of connective tissue metabolism, but the patients of the main group have more expressed indictors, which corresponds to more severe dystrophic changes and the severity of clinical symptoms. Redistribution of the fractional composition of glycosaminoglycans towards the increase of chondroitin-6 sulfate in patients of the main group indicates the presence of pre-emptive destruction of cartilage. The arthropathic syndrome availability also confirms the significant reduction CI-6s / CI-4s ratio and an increased content of chondroitin sulfates. Patients with a natural type of menopause showed more pronounced changes in connective tissue metabolites, in contrast to patients with surgical menopause еhat indicates a longer and more invasive pathologic course of

  18. Thoracoabdominal aortic aneurysm repair in patients with marfan syndrome.

    Science.gov (United States)

    Mommertz, G; Sigala, F; Langer, S; Koeppel, T A; Mess, W H; Schurink, G W H; Jacobs, M J

    2008-02-01

    We assessed the surgical outcome of descending thoracic aortic aneurysm repair (DTAA) and thoracoabdominal aortic aneurym (TAAA) repair in patients with Marfan syndrome. During a six year period, 206 patients underwent DTAA and TAAA repair. In 22 patients, Marfan syndrome was confirmed. The median age was 40 years with a range between 18 and 57 years. The extend of the aneurysms included 6 DTAA (1 with total arch, 2 with distal hemi-arch), 11 type II TAAA (2 with total arch, 3 with distal hemi-arch), 4 type III and one type IV TAAA. All patients suffered from previous type A (n=6) or type B (n=16) aortic dissection and 15 already underwent aortic procedures like Bentall (n=7) and ascending aortic replacement (n=8). All patients were operated on according to the standard protocol with cerebrospinal fluid drainage, distal aortic and selective organ perfusion and monitoring motor evoked potentials. In patients undergoing simultaneous arch replacement (via left thoracotomy), transcranial Doppler and EEG assessed cerebral physiology during antegrade brain perfusion. In four patients circulatory arrest under moderate hypothermia was required. In-hospital mortality did not occur. Major postoperative complications like paraplegia, renal failure, stroke and myocardial infarction were not encountered. Mean pre-operative creatinine level was 125mmol/L, which peaked to a mean maximal level of 130 and returned to 92mmol/L at discharge. Median intubation time was 1.5 days (range 0.33-30 days). Other complications included bleeding requiring surgical intervention (n=1), arrhythmia (n=2), pneumonia (n=2) and respiratory distress syndrome (n=1). At a median follow-up of 38 months all patients were alive. Using CT surveillance, new or false aneurysms were not detected, except in one patient who developed a visceral patch aneurysm six years after open type II repair. Surgical repair of descending and thoracoabdominal aortic aneurysms provides excellent short- and mid-term results in

  19. Metabolomics Reveals New Mechanisms for Pathogenesis in Barth Syndrome and Introduces Novel Roles for Cardiolipin in Cellular Function.

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    Yana Sandlers

    Full Text Available Barth Syndrome is the only known Mendelian disorder of cardiolipin remodeling, with characteristic clinical features of cardiomyopathy, skeletal myopathy, and neutropenia. While the primary biochemical defects of reduced mature cardiolipin and increased monolysocardiolipin are well-described, much of the downstream biochemical dysregulation has not been uncovered, and biomarkers are limited. In order to further expand upon the knowledge of the biochemical abnormalities in Barth Syndrome, we analyzed metabolite profiles in plasma from a cohort of individuals with Barth Syndrome compared to age-matched controls via 1H nuclear magnetic resonance spectroscopy and liquid chromatography-mass spectrometry. A clear distinction between metabolite profiles of individuals with Barth Syndrome and controls was observed, and was defined by an array of metabolite classes including amino acids and lipids. Pathway analysis of these discriminating metabolites revealed involvement of mitochondrial and extra-mitochondrial biochemical pathways including: insulin regulation of fatty acid metabolism, lipid metabolism, biogenic amine metabolism, amino acid metabolism, endothelial nitric oxide synthase signaling, and tRNA biosynthesis. Taken together, this data indicates broad metabolic dysregulation in Barth Syndrome with wide cellular effects.

  20. A case report of crusted scabies in an adult patient with Down syndrome.

    Science.gov (United States)

    Nagsuk, Phillips; Moore, Rachel; Lopez, Lisa

    2015-08-15

    Crusted (Norwegian) scabies is a severe manifestation of the contagious skin infection caused by Sarcoptes scabiei. Crusted scabies has been well described in patients with known immunocompromised states. Treatment may be complicated by delayed diagnosis and/or inadequate treatment. This infection may not rank highly on one's differential diagnosis in the absence of an immunocompromised state, highlighting the uniqueness of the case being presented. Several papers describe immunocompromised children with Down syndrome who are infected with crusted scabies. We present a case of infection in an adult with Down syndrome without evidence of an immunocompromised state. Our patient came to us with a 13-month history of progressively worsening symptoms, the last 4-6 weeks of that time period being most dramatic, despite various treatments. We performed tissue biopsy, culture, and laboratory evaluations, which revealed numerous mites and bacterial superinfection. Crusted scabies infection may occur in adult age individuals with Down syndrome regardless of immune status, leading us to encourage practitioners to consider this condition when presented with patients of this population. We also highlight the need for further exploration of disease prevalence in this patient population.

  1. Cushing's syndrome due to pharmacological interaction in a cystic fibrosis patient.

    Science.gov (United States)

    Main, K M; Skov, M; Sillesen, I B; Dige-Petersen, H; Müller, J; Koch, C; Lanng, S

    2002-01-01

    Treatment of allergic bronchopulmonary aspergillosis with itraconazole is becoming more widespread in chronic lung diseases. A considerable number of patients is concomitantly treated with topical or systemic glucocorticoids for anti-inflammatory effect. As azole compounds inhibit cytochrome P450 enzymes such as CYP3A isoforms, they may compromise the metabolic clearance of glucocorticoids, thereby causing serious adverse effects. A patient with cystic fibrosis is reported who developed iatrogenic Cushing's syndrome after long-term treatment with daily doses of 800 mg itraconazole and 1,600 microg budesonide. The patient experienced symptoms of striae, moon-face, increased facial hair growth, mood swings, headaches, weight gain, irregular menstruation despite oral contraceptives and increasing insulin requirement for diabetes mellitus. Endocrine investigations revealed total suppression of spontaneous and stimulated plasma cortisol and adrenocorticotropin. Discontinuation of both drugs led to an improvement in clinical symptoms and recovery of the pituitary-adrenal axis after 3 mo. This observation suggests that the metabolic clearance of buDesonide was compromised by itraconazole's inhibition of cytochrome P450 enzymes, especially the CYP3A isoforms, causing an elevation in systemic budesonide concentration. This provoked a complete suppression of the endogenous adrenal function, as well as iatrogenic Cushing's syndrome. Patients on combination therapy of itraconazole and budesonide inhalation should be monitored regularly for adrenal insufficiency. This may be the first indicator of increased systemic exogenous steroid concentration, before clinical signs of Cushing's syndrome emerge.

  2. Rehabilitation with Cochlear Implant in Patient with Harboyan Syndrome

    Directory of Open Access Journals (Sweden)

    Paniagua, Lauren Medeiros

    2013-09-01

    Full Text Available Background: Harboyan syndrome, defined as congenital corneal dystrophy associated with progressive sensorineural hearing loss, was first described by Harboyan in 1971. It is a hereditary disease manifested by eye lesions consistent with corneal endothelial dystrophy and progressive sensorineural hearing loss. There is bilateral symmetric progressive hearing loss, which may be either dominant or recessive. Objective: To report a case of a patient with a diagnosis of Harboyan syndrome. Case Report: A 25-year-old woman with profound bilateral sensorineural hearing loss, showing poor hearing performance while using a personal sound amplification device, underwent hearing rehabilitation with a cochlear implant. Conclusion: Rehabilitation was imperative in this case. The cochlear implant has proven to be the best therapeutic option, providing the patient with a better quality of life.

  3. Biomarkers for patients with interstitial cystitis/bladder pain syndrome

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    Hsin-Tzu Liu

    2015-12-01

    Full Text Available Interstitial cystitis or bladder pain syndrome (IC/BPS is a disease of unknown etiology manifested with bladder pain and frequency urgency symptoms. Although several pathophysiologic mechanisms have been proposed, the underlying mechanism of IC/BPS is still unclear. Accumulated evidence supports that IC/BPS is actually a spectrum of clinical phenomena that involves several different genes and environmental factors. Heterogeneous syndromes are seen in patients with IC/PBS, which suggests that the disease should be classified into different subtypes. Abnormal expressions of several bladder epithelial markers, including mast cells, epithelial differentiation proteins, cell membrane proteins, neurotransmitters, and cytokines, are present in IC/BPS. This review discusses the possible biomarkers that may play crucial roles in IC/BPS, and especially focuses on those that have the potential to be used as biomarkers for prognosis and for the determination of the best treatment for patients.

  4. [Pseudomeigs syndrome in a patient with Krukenberg's tumor].

    Science.gov (United States)

    Bayod, M J Herráiz; Carlón, M Elorz; Idoate, M A

    2007-01-01

    We report the case of a fiftyone-year-old woman with a past medical history of Linfoma no Hodking and a gastric adenocarcinoma with signet ring cells. She came to our institution with a twenty month history of dysnea secondary to pleural effussion, bilateral lower extremity edema and probably had ascitis. On CT and US two bilateral pelvic masses were found and biopsied. The anatomopathological analysis showed bilateral ovarian implants from signet ring cell adenocarcinoma (Krukenberg tumor). This patient developed a PseudoMeigs syndrome consisting on malignant ovarian tumor asociated with ascitis and pleural effusion without malignant cells. Oncological patients who present with ascitis and benign pleural effusion, the diagnosis of PseudoMeigs syndrome should be considered.

  5. Eosinophilic Enteritis with Ascites in a Patient with Overlap Syndrome

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    Spyros Aslanidis

    2009-01-01

    Full Text Available Gastrointestinal involvement is frequent in patients with systemic lupus erythematosus (SLE. Eosinophilic gastroenteritis, however, has only rarely been described in rheumatological conditions, despite its reported connection to autoimmune diseases, such as hypereosinophilic syndrome, vasculitides, and systemic mastoidosis. It presents typically with abdominal pain and diarrhea and is only exceptionally associated with ascites. Diagnosis can be problematic, as several other clinical conditions (malignancies, infection/tuberculosis, and inflammatory bowel diseases have to be ruled out. It is basically a nonsurgical disease, with excellent recovery on conservative treatment. We report the rare case of a young woman with overlap syndrome who presented with abdominal pain and ascites. The diagnosis of eosinophilic enteritis was made based on clinical, radiological, and laboratory criteria. The patient was treated with corticosteroids with excellent response.

  6. Anesthetic management of patients with Melkersson Rosenthal syndrome.

    Science.gov (United States)

    Tekin, Murat; Kati, Ismail

    2008-01-01

    Melkersson Rosenthal Syndrome (MRS) is a rare disorder characterized by relapsing facial paralysis, persistent or recurrent orofacial edema, and lingua plicata. It may cause difficult airway, drug allergy, and angioedema. In our anesthetic management of two patients with MRS, preanesthetic immunological blood examination and skin tests for hypersensitivity to anesthetic drugs were applied. Because the principal goal is to avoid all factors that may stimulate, an allergic reaction, anesthetic drugs known to trigger urticaria were avoided. Body and operating room temperatures, changes of which may trigger allergic reactions, were kept constant during the perioperative period. Emergency precautions were taken for probable angioedema. MRS is a rare syndrome, and if its manifestations are misunderstood as simple facial paralysis, it may be overlooked by anesthesiologists. Anesthesiologists must be careful of several problems in patients with MRS.

  7. Clinical profile of patients with fibromyalgia syndrome

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    Andrei Pereira Pernambuco

    Full Text Available Abstract Introduction: The new diagnostic criteria for fibromyalgia (FM include the presence of chronic, widespread pain associated with other symptoms such as fatigue, sleep disturbance, anxiety and depression. All these symptoms should be considered when thinking and clinical decision making of physiotherapists dealing with FM. However, it is clear that the other symptoms that accompany the pain are often neglected. Objective: To measure the levels of fatigue, sleep disturbances, anxiety and depression in patients with FM and compare them to levels found in healthy controls. Methods: Forty-six women diagnosed with FM and 30 healthy controls participated in the study. The levels of each of the symptoms were assessed by four validated questionnaires in Brazil (Piper Fatigue Scale - Revised, Pittsburgh Sleep Quality Index, Beck Anxiety Inventory and the Beck Depression Inventory. Statistical analysis was performed using GraphPad Prism software and all tests used a significance level of 5% (α = 0.05. Results: FM patients had significantly elevated levels of fatigue (p = 0.0005, sleep disturbances (p = 0.003, anxiety (p = 0.0012 and depression (p = 0.0003 compared to healthy controls. Symptoms fatigue and depression correlated strongly and positively with one another and with other symptoms evaluated. Conclusion: The other symptoms that comprise the clinical picture of FM need be considered not only in order to recover the health of patients, but above all in an attempt to preserve it and promote it.

  8. Weight loss improves renal hemodynamics in patients with metabolic syndrome.

    Science.gov (United States)

    Ezequiel, Danielle Guedes Andrade; Costa, Monica Barros; Chaoubah, Alfredo; de Paula, Rogerio Baumgratz

    2012-03-01

    We investigated the impact of weight loss on urinary albumin excretion (UAE) and creatinine clearance in obese patients with metabolic syndrome. Thirty-five obese patients undertook a 12-week calorie-restricted diet. The patients underwent a metabolic (oral glucose tolerance test, plasma lipids, and uric acid) and renal hemodynamic evaluations (creatinine clearance and urinary albumin excretion) before (phase 1), and after the 12-week diet (phase 2). After the dietary intervention, the subjects were divided into two groups: patients who achieved the target weight reduction (R: responders, n = 14), and patients who did not (NR: non-responders, n = 21). The patients in Group R showed an improvement in lipid profile, a decrease in UAE (median = 162.5 mg/24 hours, range: 0.8 to 292 mg/24 hours, at phase 1 versus 10.4 mg/24 hours, range: 1.6 to 22.4 mg/24 hours, at phase 2), and a significant reduction in creatinine clearance (121.4 ± 66.5 mL/min. in phase 1 to 92.9 ± 35.6 mL/min. at the end of phase 2, p = 0.001). In Group NR, no statistically significant differences were observed between phases 1 and 2. Body weight reduction has a positive impact on renal hemodynamics, decreasing urinary albumin excretion as well as glomerular hyperfiltration in obese patients with metabolic syndrome.

  9. Weight loss improves renal hemodynamics in patients with metabolic syndrome

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    Danielle Guedes Andrade Ezequiel

    2012-03-01

    Full Text Available OBJECTIVE: We investigated the impact of weight loss on urinary albumin excretion (UAE and creatinine clearance in obese patients with metabolic syndrome. METHODS: Thirty-five obese patients undertook a 12-week calorie-restricted diet. The patients underwent a metabolic (oral glucose tolerance test, plasma lipids, and uric acid and renal hemodynamic evaluations (creatinine clearance and urinary albumin excretion before (phase 1, and after the 12-week diet (phase 2. RESULTS: After the dietary intervention, the subjects were divided into two groups: patients who achieved the target weight reduction (R: responders, n = 14, and patients who did not (NR: non-responders, n = 21. The patients in Group R showed an improvement in lipid profile, a decrease in UAE (median = 162.5 mg/24 hours, range: 0.8 to 292 mg/24 hours, at phase 1 versus 10.4 mg/24 hours, range: 1.6 to 22.4 mg/24 hours, at phase 2, and a significant reduction in creatinine clearance (121.4 ± 66.5 mL/min. in phase 1 to 92.9 ± 35.6 mL/min. at the end of phase 2, p = 0.001. In Group NR, no statistically significant differences were observed between phases 1 and 2. CONCLUSION: Body weight reduction has a positive impact on renal hemodynamics, decreasing urinary albumin excretion as well as glomerular hyperfiltration in obese patients with metabolic syndrome.

  10. Remote clinical prognosis in patients with coronary X syndrome

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    Sebov D.M.

    2015-09-01

    Full Text Available The article analyzes data of 3234 coronary angiographies with established coronary X syndrome (CXS in 217 cases, herewith expressed tortuosity of coronary arteries (ETCA was found out in 148 (more than 2/3 of cases. A 5-years’ analysis of cardio-vascular events (CVE in patients with CXS in comparison with the group of IHD patients and initial atherosclerosis of coronary arteries was made. Absence of reliable difference of developing severe cardio-vascular events (SCVE bet¬ween patients with initial atherosclerosis and CXS was proved. Risk of CVE development was significantey higher in patients with ETCA, OR=4,93; 95% (0,62; 3929. Patients with CXS had higher risk of severe arrhythmias development as compared with IHD patients with initial atherosclerosis: OR=2,36 (1,01; 5,56. There was no reliable difference between lethality of any causes and number of coronary interventions in all groups.

  11. Analysis of the Serotonergic System in a Mouse Model of Rett Syndrome Reveals Unusual Upregulation of Serotonin Receptor 5b.

    Science.gov (United States)

    Vogelgesang, Steffen; Niebert, Sabine; Renner, Ute; Möbius, Wiebke; Hülsmann, Swen; Manzke, Till; Niebert, Marcus

    2017-01-01

    Mutations in the transcription factor methyl-CpG-binding-protein 2 (MeCP2) cause a delayed-onset neurodevelopmental disorder known as Rett syndrome (RTT). Although alteration in serotonin levels have been reported in RTT patients, the molecular mechanisms underlying these defects are not well understood. Therefore, we chose to investigate the serotonergic system in hippocampus and brainstem of male Mecp2 -/y knock-out mice in the B6.129P2(C)-Mecp2(tm1.1Bird) mouse model of RTT. The serotonergic system in mouse is comprised of 16 genes, whose mRNA expression profile was analyzed by quantitative RT-PCR. Mecp2 -/y mice are an established animal model for RTT displaying most of the cognitive and physical impairments of human patients and the selected areas receive significant modulation through serotonin. Using anatomically and functional characterized areas, we found region-specific differential expression between wild type and Mecp2 -/y mice at post-natal day 40. In brainstem, we found five genes to be dysregulated, while in hippocampus, two genes were dysregulated. The one gene dysregulated in both brain regions was dopamine decarboxylase, but of special interest is the serotonin receptor 5b (5-ht 5b ), which showed 75-fold dysregulation in brainstem of Mecp2 -/y mice. This dysregulation was not due to upregulation, but due to failure of down-regulation in Mecp2 -/y mice during development. Detailed analysis of 5-ht 5b revealed a receptor that localizes to endosomes and interacts with G αi proteins.

  12. Patterns of tooth agenesis in patients with crouzon or apert syndrome.

    Science.gov (United States)

    Reitsma, Jacobus H; Ongkosuwito, Edwin M; van Wijk, Arjen J; Prahl-Andersen, Birte

    2014-03-01

    Dental agenesis is the most common anomaly of dental development and can be a component of a congenital syndrome. The purpose of this study was to evaluate the prevalence of agenesis and to describe patterns of tooth agenesis in patients with Crouzon or Apert syndrome compared with nonsyndromic controls. Longitudinal records of 67 patients with Crouzon syndrome (n = 39) or Apert syndrome (n = 28) from the Erasmus Medical Centre were examined. Syndromic patients were compared with patients in a nonsyndromic control group (n = 284). Prevalence of tooth agenesis in patients with Crouzon syndrome (35.9%) and patients with Apert syndrome (46.4%) was significantly higher than the prevalence in control subjects (27.5%) (P agenesis excluding third molars was significantly higher in syndromic patients than in control subjects (P agenesis of mandibular second premolars occurred significantly more often in patients with Crouzon and Apert syndrome than in control subjects (P agenesis is more prevalent in patients with Crouzon or Apert syndrome than in control subjects. Tooth agenesis and mandibular symmetrical patterns of second premolar agenesis are more prevalent in syndromic patients.

  13. Pharmacological Treatment of Obesity in Patients with Polycystic Ovary Syndrome

    OpenAIRE

    Kahal, Hassan; Atkin, Stephen L.; Sathyapalan, Thozhukat

    2011-01-01

    Polycystic ovary syndrome (PCOS) is a common disorder affecting women of reproductive age and it is associated with increased cardiovascular risk. Obesity plays an important role in the pathogenesis of PCOS, and the majority of patients with PCOS are obese. Over the last 20 years, the prevalence of obesity has dramatically increased, with probable associated increase in PCOS. Weight reduction plays an integral part in the management of women with PCOS. In this paper, current available weight ...

  14. Strongyloidiasis in a patient with acquired immunodeficiency syndrome.

    Science.gov (United States)

    Ohnishi, Kenji; Kogure, Hitoshi; Kaneko, Shingo; Kato, Yasuyuki; Akao, Nobuaki

    2004-06-01

    Rhabditiform larvae, transforming larvae from rhabditiform to filariform, and eggs of Strongyloides stercoralis were identified in the sputum of a Thai woman with acquired immunodeficiency syndrome (AIDS), and stool microscopy also showed a heavy load of rhabditiform larvae of S. stercoralis. She was treated with 12 mg ivermectin once a day for 2 days for the strongyloidiasis, with good therapeutic results being obtained. Strongyloidiasis may be a curable disease through the use of an appropriate therapy, even in a patient with AIDS.

  15. Klinefelter syndrome: an unusual diagnosis in pediatric patients

    OpenAIRE

    Tincani, Bruna J.; Mascagni, Bruno R.; Pinto, Roberto D. P.; Guaragna-Filho, Guilherme; Castro, Carla C. T. S.; Sewaybricker, Letícia E.; Viguetti-Campos, Nilma L.; Marques-de-Faria, Antonia P.; Maciel-Guerra, Andréa T.; Guerra-Júnior, Gil

    2012-01-01

    OBJECTIVE: To identify clinical and laboratory data which differentiate Klinefelter syndrome (KS) patients according to age group. METHODS: The study included all cases of hypogonadism, gynecomastia and/or infertility whose karyotype was performed at a university hospital from January 1989 to December 2011, in a total of 105 subjects. The following data were retrospectively analyzed: age at first visit, ratio of arm span to height, pubic hair, gynecomastia, testicular volume, luteinizing horm...

  16. Ultrasound evaluation of metabolic syndrome patients with hepatosteatosis

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    Mehmet Emin Demir

    2013-01-01

    Full Text Available Objective: The exact incidence of hepatosteatosis in patients with metabolic syndrome (MetS is unknown; also there is no valid, simple and inexpensive method to evaluate and follow-up for patients with MetS. In our study, we aimed to demonstrate the frequency of hepatosteatosis, and whether demonstrate presence and degree of steatosis using liver ultrasonography may provide additional benefit for evaluating and following-up in MetS patients with non-alcoholic fatty liver disease. Methods: One hundred and twelve patients with MetS were included to the study. Patients divided into three groups; control group (n= 36 consisted of patients without hepatosteatosis, group 1 (n=43 consisted of patients with grade 1 hepatosteatosis. Finally, group 2 (n= 33 consisted of patients with grade 2 hepatosteatosis. The relationship between the presence and degree of the hepatosteatosis and MetS parameters were analyzed.Results: The incidence of hepatosteatosis was found 69.4% in patients with MetS. There were significantly differences in HOMA-IR, AST, ALT and GGT levels among control group and group 1 (p0.05 for all. Besides, there were significantly differences in waist circumferences, fasting insulin, HOMA-IR, GGT, uric acid, CRP levels among group 1 and 2 (p<0.05 for all.Conclusion: Our study indicates that MetS related parameters; especially insulin resistance, were significantly different in patients with hepatosteatosis compared to patients without hepatosteatosis. Because of the different measurment of waist circumferences among groups, we recommend to use liver ultrasonography and waist circumference together to evaluate and follow-up for MetS patients with hepatosteatosis. J Clin Exp Invest 2013; 4 (2: 153-158Key words: Fatty Liver, metabolic syndrome X, ultrasonography

  17. Hormone-metabolic parameters of blood serum at revealing the metabolic syndrome at liquidators on Chernobyl disaster

    International Nuclear Information System (INIS)

    Chirkin, A.A.; Stepanova, N.A.; Danchenko, E.O.; Orekhova, D.S.

    2006-01-01

    The purpose of research was the definition of the maintenance leptin, other hormones and some metabolic parameters in liquidators blood serum of group 1.1. Under supervision was 30 healthy persons who were not treat to action of radiation-ecological factors, and 154 liquidators. It is established, that in blood serum of liquidators with body mass index > 25 kg/m 2 leptin concentration is authentically raised and cortisol concentration is lowered. Following most important results are received: 1) hyperleptinemia and hypo-alpha-cholesterolemia can be markers of a radiating influence available in the past; 2) the strict algorithm of revealing of metabolic syndrome X allows to generate adequate groups of risk of the diseases interfaced with an insulin resistance and an atherosclerosis development; 3) the strict algorithm of metabolic syndrome X revealing allows to define concrete directions of metabolic preventive maintenance and therapy at the persons who have entered into risk-groups of diseases development. (authors)

  18. Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.

    Science.gov (United States)

    Carvalho, Ellaine; Honjo, Rachel; Magalhães, Monize; Yamamoto, Guilherme; Rocha, Katia; Naslavsky, Michel; Zatz, Mayana; Passos-Bueno, Maria Rita; Kim, Chong; Bertola, Debora

    2015-05-01

    Schinzel-Giedion syndrome is a rare autosomal dominant disorder comprising postnatal growth failure, profound developmental delay, seizures, facial dysmorphisms, genitourinary, skeletal, neurological, and cardiac defects. It was recently revealed that Schinzel-Giedion syndrome is caused by de novo mutations in SETBP1, but there are few reports of this syndrome with molecular confirmation. We describe two unrelated Brazilian patients with Schinzel-Giedion syndrome, one of them carrying a novel mutation. We also present a review of clinical manifestations of the syndrome, comparing our cases to patients reported in literature emphasizing the importance of the facial gestalt associated with neurological involvement for diagnostic suspicion of this syndrome. © 2015 Wiley Periodicals, Inc.

  19. Avoiding Management Errors in Patients with Obesity Hypoventilation Syndrome.

    Science.gov (United States)

    Manthous, Constantine A; Mokhlesi, Babak

    2016-01-01

    The prevalence of obesity hypoventilation syndrome and obstructive sleep apnea are increasing rapidly in the United States in parallel with the obesity epidemic. As the pathogenesis of this chronic illness is better understood, effective evidence-based therapies are being deployed to reduce morbidity and mortality. Nevertheless, patients with obesity hypoventilation still fall prey to at least four avoidable types of therapeutic errors, especially at the time of hospitalization for respiratory or cardiovascular decompensation: (1) patients with obesity hypoventilation syndrome may develop acute hypercapnia in response to administration of excessive supplemental oxygen; (2) excessive diuresis for peripheral edema using a loop diuretic such as furosemide exacerbates metabolic alkalosis, thereby worsening daytime hypoventilation and hypoxemia; (3) excessive or premature pharmacological treatment of psychiatric illnesses can exacerbate sleep-disordered breathing and worsen hypercapnia, thereby exacerbating psychiatric symptoms; and (4) clinicians often erroneously diagnose obstructive lung disease in patients with obesity hypoventilation, thereby exposing them to unnecessary and potentially harmful medications, including β-agonists and corticosteroids. Just as literary descriptions of pickwickian syndrome have given way to greater understanding of the pathophysiology of obesity hypoventilation, clinicians might exercise caution to consider these potential pitfalls and thus avoid inflicting unintended and avoidable complications.

  20. Restless legs syndrome in migraine patients: prevalence and severity.

    Science.gov (United States)

    van Oosterhout, W P J; van Someren, E J W; Louter, M A; Schoonman, G G; Lammers, G J; Rijsman, R M; Ferrari, M D; Terwindt, G M

    2016-06-01

    Our aim was to study not only the prevalence but more importantly the severity and the correlation between sleep quality and restless legs syndrome (RLS) in a large population of well-defined migraine patients as poor sleep presumably triggers migraine attacks. In a large cross-sectional and observational study, data on migraine and RLS were collected from 2385 migraine patients (according to the International Classification of Headache Disorders ICHD-IIIb) and 332 non-headache controls. RLS severity (International RLS Study Group severity scale) and sleep quality (Pittsburgh Sleep Quality Index) were assessed. Risk factors for RLS and RLS severity were calculated using multivariable-adjusted regression models. Restless legs syndrome prevalence in migraine was higher than in controls (16.9% vs. 8.7%; multivariable-adjusted odds ratio 1.83; 95% confidence interval 1.18-2.86; P = 0.008) and more severe (adjusted severity score 14.5 ± 0.5 vs. 12.0 ± 1.1; P = 0.036). Poor sleepers were overrepresented amongst migraineurs (50.1% vs. 25.6%; P Restless legs syndrome is not only twice as prevalent but also more severe in migraine patients, and associated with decreased sleep quality. © 2016 EAN.

  1. [Cochlear implantation in patients with Waardenburg syndrome type II].

    Science.gov (United States)

    Wan, Liangcai; Guo, Menghe; Chen, Shuaijun; Liu, Shuangriu; Chen, Hao; Gong, Jian

    2010-05-01

    To describe the multi-channel cochlear implantation in patients with Waardenburg syndrome including surgeries, pre and postoperative hearing assessments as well as outcomes of speech recognition. Multi-channel cochlear implantation surgeries have been performed in 12 cases with Waardenburg syndrome type II in our department from 2000 to 2008. All the patients received multi-channel cochlear implantation through transmastoid facial recess approach. The postoperative outcomes of 12 cases were compared with 12 cases with no inner ear malformation as a control group. The electrodes were totally inserted into the cochlear successfully, there was no facial paralysis and cerebrospinal fluid leakage occurred after operation. The hearing threshold in this series were similar to that of the normal cochlear implantation. After more than half a year of speech rehabilitation, the abilities of speech discrimination and spoken language of all the patients were improved compared with that of preoperation. Multi-channel cochlear implantation could be performed in the cases with Waardenburg syndrome, preoperative hearing and images assessments should be done.

  2. Tanezumab Reduces Pain in Women with Interstitial Cystitis/Bladder Pain Syndrome and Patients with Nonurological Associated Somatic Syndromes.

    Science.gov (United States)

    Nickel, J Curtis; Mills, Ian W; Crook, Tim J; Jorga, Anamaria; Smith, Michael D; Atkinson, Gary; Krieger, John N

    2016-04-01

    We performed pooled analyses from 3 small, clinical trials of tanezumab in patients with urological chronic pelvic pain, including chronic prostatitis/chronic pelvic pain syndrome and interstitial cystitis/bladder pain syndrome, to identify patient subpopulations more likely to benefit from tanezumab treatment. Pooled analyses included data from 208 patients with interstitial cystitis/bladder pain syndrome or chronic prostatitis/chronic pelvic pain syndrome randomized to placebo (104, 65 [62.5%] female) or tanezumab (104, 63 [60.6%] female) who received 1 dose or more of study medication. Data on tanezumab were from study A4091010 (interstitial cystitis/bladder pain syndrome) on 200 μg/kg intravenous, study A4091019 (chronic prostatitis/chronic pelvic pain syndrome) on 20 mg intravenous and study A4091035 (interstitial cystitis/bladder pain syndrome) on 20 mg subcutaneous. Primary study end points were evaluated using analysis of covariance with gender, study and baseline pain as covariates. For pooled analyses least squares mean (SE) change from baseline in 24-hour pain intensity vs placebo was -0.60 (0.24, 90% CI -0.99, -0.20) overall and -0.99 (0.32, p=0.002) and -0.17 (0.36, p=0.650) for females and males, respectively. The improvement in pain intensity was significant (p=0.011) for patients with symptoms suggesting the concomitant presence of nonurological associated somatic syndromes but not for those with pelvic pain symptoms only (p=0.507). Women with interstitial cystitis/bladder pain syndrome and patients with symptoms suggesting the concomitant presence of nonurological associated somatic syndromes were more likely to experience significant pain reduction with tanezumab than with placebo therapy. In contrast, no difference was reported in response between tanezumab and placebo therapy for men with chronic prostatitis/chronic pelvic pain syndrome symptoms only. Copyright © 2016 American Urological Association Education and Research, Inc. Published by

  3. The characteristics of the patients with Rett syndrome: Case series

    Directory of Open Access Journals (Sweden)

    Dutina Aleksandra

    2016-01-01

    Full Text Available Rett syndrome is a neurodevelopmental disorder caused by mutation in the gene MECP2 on the X chromosome. The main clinical characteristics are breathing disorders, epileptic seizures, scoliosis, walking disability and constipation with frequent growth failure and malnutrition. Our transversal study included 29 female patients with Rett syndrome treated in the Institute for Mother and Child Health Care ''Dr Vukan Čupić'' in Belgrade. The patients were anthropometrically measured by their height and weight and caluculating body mass index. The degree of scolisios, the frequency of epileptic seizures, walking ability and grade of respiratory dysfunction were assessed based on the clinical scales for disease severity estimation. The statistical data analysis was done in the software package PASW Statistics 18. The average age of the patients was 145.5±90.1 months. The average height was 125.2±22.1cm, the average weight 27.6±12.3kg, and the average body mass index was 16.6±3.5kg/m2. The average z scores for height, weight and BMI-for-age were statistically significantly lower in comparison to general population, which is given with negative z scores. There was the statistically significant negative coorelation between the age of patients and the average z scores for height-for-age (r=-0.464 p=0.011, weight-for-age (r=-0.433 p=0.019 and BMI-for-age (r=-0.433 p=0.019. The statistically significant negative coorelation was found between the degree of scoliosis and the average z scores for height and weight-for-age, but not with the average z score for BMI-for-age. The growth failure and malnutrition represent significant problems which are found in Rett syndrome. The detection of factors affecting the growth and nutrition in patients with Rett syndrome could greatly contribute to the improvement of the quality of life in the patients with Rett syndrome and perhaps lead to the correction of the approach of symptomatic and supportive therapy.

  4. Patient's perception of the facial appearance after maxillomandibular advancement for obstructive sleep apnea syndrome.

    Science.gov (United States)

    Li, K K; Riley, R W; Powell, N B; Guilleminault, C

    2001-04-01

    The goal of this study was to evaluate the patient's perception of the facial appearance after maxillomandibular advancement (MMA) surgery for obstructive sleep apnea syndrome (OSAS). During a 14-month period, 58 patients underwent MMA for OSAS. All of the patients underwent preoperative and postoperative cephalometric analysis. Between 6 and 12 months after surgery, a questionnaire was mailed to each patient. The questionnaire asked the patient to evaluate subjectively their postoperative facial appearance. Visual analog scale ([VAS] 0 to 10) was used to assess the extent of the facial changes. Forty-four (76%) patients (39 men, 6 women) responded to the questionnaire. Cephalometric analysis revealed that 40 patients had maxillomandibular protrusion postoperatively. Forty-two (96%) of the 44 patients reported changes in their facial appearance (VAS, 4.8 +/- 2.5). Twenty-four (55%) patients reported favorable facial changes (ie, they were more attractive [15 patients] and/or more youthful). Fourteen patients gave neutral responses (ie, they were no more or no less attractive). Four patients gave unfavorable responses (ie, they were less attractive after surgery). The results suggest that most patients who underwent MMA for OSAS noted moderate changes in their facial appearance. Despite significant maxillomandibular protrusion based on the postoperative cephalometric analysis, more than 90% of the patients gave either positive or neutral responses to the changes in their facial appearance.

  5. Assessment of Smell Function in Syndromic Craniosynostosis Patients.

    Science.gov (United States)

    Vaughan, Casey; Attlmayr, Bernhard; Dalton, Lucy; Upile, Navdeep; Xie, Carol; De, Su

    2016-09-01

    Craniosynostosis is defined as premature fusion of the cranial suture lines and is part of a syndrome in 15% to 40% of the patients. There is limited literature available regarding these children's ability to smell. Most of them will undergo numerous surgical procedures, some of which may alter their sense of smell, potentially leading to significant social as well as safety implications. Ethical approval was obtained for this pilot study. Children with syndromic craniosynostosis were recruited and underwent anterior rhinoscopy, prior to performing a smell test utilizing the Sensonic pediatric Smell wheel. The results were compared to an age-matched control group. Eight children with syndromic craniosynostosis participated in the study. Of a possible total score of 11, their mean average score was 6.6 and the median was 6. In comparison, the mean average score for the control group was 7.5 and the median was 7. Although the study group was small, this pilot study demonstrates that children with syndromic craniosynostosis have a similar ability to identify smells to an age-matched cohort. Further research can now be undertaken to see whether or not midface advancement procedures affect these children's sense of smell.

  6. Clinical, radiological and imunogenectical study in patients with Reiter's Syndrome

    International Nuclear Information System (INIS)

    Souza Meirelles, E. de.

    1987-01-01

    This study puspose was to investigate the clinical, radiological and immunogenetical parameters from a brazilian Reiter's Syndrome population. Twenty Reiter's Syndrome patients from ''Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo'' were prospectivelly studied in their demographical (sex, race, age at study, age at disease onset and disease duration), epidemiological (family history), clinical (general, articular, mucocutaneous, genitourinary, ocular and intestinal manifestations besides functional capacity at study), radiological (sacro-iliitis, spondylitis and calcaneal spur) and immunogenetical (HLA loci A, B and DR typing). The technique employed in the 61 aloantigens from loci HLA A (17), B (34) and DR (10) typing was Terasaki microlymphocitotoxicity modified by Danilovs, had being performed in the ''Laboratorio de Imunogenetica da Faculdade de Medicina da Universidade de Sao Paulo''. We concluded that the clinical, radiological and immunogenetical Reiter's Syndrome expression in the brazilian population is similar to the others north american or european already studied populations and that the probability of one brazilian HLA B27 positie individual to develop Reiter's Syndrome is 19 fold larger when compared to one brazilian HLA B27 negative individual. (author) [pt

  7. Isometric and isokinetic muscle strength in patients with fibrositis syndrome. New characteristics for a difficult definable category of patients

    DEFF Research Database (Denmark)

    Jacobsen, Søren; Danneskiold-Samsøe, B

    1987-01-01

    A common complaint among patients with fibrositis syndrome is exhaustion and fatique. It was therefore felt desirable to evaluate the muscle strength of these patients compared with normal subjects. Maximum isometric and isokinetic strength of knee extension was measured in 15 patients and 15...... in patients with fibrositis syndrome than in healthy subjects....

  8. Restless legs syndrome in patients with sequelae of poliomyelitis.

    Science.gov (United States)

    Kumru, Hatice; Portell, Enric; Barrio, Manuela; Santamaria, Joan

    2014-10-01

    No studies have examined the association between RLS and the sequelae of poliomyelitis (PM). We studied the frequency and severity of RLS in a group of consecutive patients with the sequelae of poliomyelitis (PM) and the effect of treatment with dopaminergic drugs. A diagnosis of RLS was made according to the criteria of the International RLS Study Group, and severity was assessed by the RLS rating scale. Information on sex, age, age at onset, site affected by PM, disease duration of PM, and history of post-polio syndrome (pPS) was obtained in a cohort of 52 PM patients. The mean age was 55.9 ± 6.5 years; 39 patients had post-polio syndrome (75%). RLS was diagnosed in 21 (40.4%) patients. Sixteen of the 21 patients (76.2%) with RLS had pPS, which was similar to the non-RLS group (74.2% patients with pPS). RLS symptoms were very severe in 5 patients, severe in 13, moderate in 2 and mild in 1. Nineteen of the 21 patients with RLS had symptoms predominantly in the more affected lower limb (90% of patients). Sixteen patients received dopaminergic agonist treatment with a significant reduction in their scores on the RLS severity scale from 28.3 ± 4.7 to 6.9 ± 7.3 (p < 0.001). RLS occurs frequently in patients with PM, both in those with and without pPS, and responds well to treatment with dopaminergic drugs. Copyright © 2014 Elsevier Ltd. All rights reserved.

  9. Hematological abnormalities in adult patients with Down's syndrome.

    LENUS (Irish Health Repository)

    McLean, S

    2012-02-01

    BACKGROUND: There is a paucity of data regarding hematological abnormalities in adults with Down\\'s syndrome (DS). AIMS: We aimed to characterize hematological abnormalities in adult patients with DS and determine their long-term significance. METHODS: We retrospectively studied a cohort of nine DS patients referred to the adult hematology service in our institution between May 2001 and April 2008. Data collected were: full blood count (FBC), comorbidities, investigations performed, duration of follow-up and outcome to most recent follow-up. RESULTS: Median follow-up was 26 months (9-71). Of the nine patients, two had myelodysplastic syndrome (MDS) at presentation. Of these, one progressed, with increasing marrow failure, and requiring support with transfusions and gCSF. The remaining eight patients, with a variety of hematological abnormalities including leukopenia, macrocytosis, and thrombocytopenia, had persistently abnormal FBCs. However there was no evidence of progression, and no patient has evolved to acute myeloid leukemia (AML). CONCLUSIONS: MDS is a complication of DS and may require supportive therapy. However, minor hematological abnormalities are common in adult DS patients, and may not signify underlying marrow disease.

  10. 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...... the patients' hypermobility, whereas no tendon pathology was found that explained the hypermobility in BJHS.-Nielsen, R. H., Couppé, C., Jensen, J. K., Olsen, M. R., Heinemeier, K. M., Malfait, F., Symoens, S., De Paepe, A., Schjerling, P., Magnusson, S. P., Remvig, L., Kjaer, M. Low tendon stiffness...... and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients....

  11. Heterochromia iridis and pertinent clinical findings in patients with glaucoma associated with Sturge-Weber syndrome.

    Science.gov (United States)

    Aggarwal, Nalini K; Gandham, Sai B; Weinstein, Rebecca; Saltzmann, Robert; Walton, David S

    2010-01-01

    To examine the clinical and gonioscopic findings in patients with glaucoma associated with Sturge-Weber syndrome. Retrospective review of clinical findings of all patients with Sturge-Weber syndrome who presented between January 1978 and December 2003. Koeppe gonioscopy was performed under general anesthesia and findings were photographed when feasible. Iris color was documented by color sketch or photograph at initial presentation. Fisher exact test was used to determine whether the presence of heterochromia was statistically higher in the glaucomatous group. Fifty-five patients who met inclusion criteria were identified, of whom 44 (80%) had glaucoma. Unilateral glaucoma was diagnosed in 30 eyes and bilateral glaucoma in 14 eyes, yielding 58 eyes with glaucoma and 52 eyes without. Gonioscopic examination revealed distinct anatomic abnormalities in the anterior chamber angle in 32 (55%) of the glaucomatous eyes in contrast to the normal fellow eyes in patients with unilateral glaucoma and to the patients without glaucoma. Heterochromia iridis with darker iris on the glaucomatous side was present in 11 of the 30 patients with unilateral glaucoma (37%, P heterochromia iridis may be judicious in these patients. Copyright 2010, SLACK Incorporated.

  12. Fibromyalgia syndrome in patients with hepatitis C infection.

    Science.gov (United States)

    Kozanoglu, Erkan; Canataroglu, Abdullah; Abayli, Bahri; Colakoglu, Salih; Goncu, Kamil

    2003-09-01

    Fibromyalgia syndrome (FS) is characterized by widespread pain and tenderness at specific anatomic sites. Different theories have been proposed in the etiopathogenesis of this syndrome, and besides genetic, neuroendocrine, psychologic, and traumatic causes, infections have also been reported. The aim of the present study was to evaluate the presence of FS in patients with hepatitis C virus (HCV) infection. Ninety-five patients with chronic HCV infection and 95 healthy controls were enrolled in the study. The 1990 American College of Rheumatology classification criteria were used for the diagnosis of FS. Tender point count, pain intensity, sleep disturbance, stiffness, headache, paresthesia, fatigue, irritable bowel syndrome (IBS), and sicca- and Raynaud-like symptoms were assessed. Fibromyalgia was found in 18.9% of patients and 5.3% of healthy controls. Mean tender point count, pain intensity scored on a visual analog scale (VAS), sleep disturbance, stiffness, paresthesia, and fatigue were higher in the HCV group. No significant relationship was observed between the two groups regarding headache, IBS, and sicca- and Raynaud-like symptoms. In addition, mean tender point count and pain intensity scores were also significantly higher in HCV patients with FS than in control subjects with FS. All of the symptoms except stiffness were not statistically significant between the HCV and control groups with FS. Our results demonstrate a tendency toward higher prevalence of FS in patients with HCV infection. Besides various extrahepatic features, musculoskeletal disorders including fibromyalgia might be expected in the progression of HCV infection. Detailed examination of the patients helps to differentiate FS from other musculoskeletal complications of HCV infection. This will provide appropriate management approaches and better quality of life for them.

  13. Dopamine agonist withdrawal syndrome: implications for patient care.

    Science.gov (United States)

    Nirenberg, Melissa J

    2013-08-01

    Dopamine agonists are effective treatments for a variety of indications, including Parkinson's disease and restless legs syndrome, but may have serious side effects, such as orthostatic hypotension, hallucinations, and impulse control disorders (including pathological gambling, compulsive eating, compulsive shopping/buying, and hypersexuality). The most effective way to alleviate these side effects is to taper or discontinue dopamine agonist therapy. A subset of patients who taper a dopamine agonist, however, develop dopamine agonist withdrawal syndrome (DAWS), which has been defined as a severe, stereotyped cluster of physical and psychological symptoms that correlate with dopamine agonist withdrawal in a dose-dependent manner, cause clinically significant distress or social/occupational dysfunction, are refractory to levodopa and other dopaminergic medications, and cannot be accounted for by other clinical factors. The symptoms of DAWS include anxiety, panic attacks, dysphoria, depression, agitation, irritability, suicidal ideation, fatigue, orthostatic hypotension, nausea, vomiting, diaphoresis, generalized pain, and drug cravings. The severity and prognosis of DAWS is highly variable. While some patients have transient symptoms and make a full recovery, others have a protracted withdrawal syndrome lasting for months to years, and therefore may be unwilling or unable to discontinue DA therapy. Impulse control disorders appear to be a major risk factor for DAWS, and are present in virtually all affected patients. Thus, patients who are unable to discontinue dopamine agonist therapy may experience chronic impulse control disorders. At the current time, there are no known effective treatments for DAWS. For this reason, providers are urged to use dopamine agonists judiciously, warn patients about the risks of DAWS prior to the initiation of dopamine agonist therapy, and follow patients closely for withdrawal symptoms during dopamine agonist taper.

  14. [Transcutaneous tibial nerve stimulation in the overactive bladder syndrome in patients with Parkinson's syndromes].

    Science.gov (United States)

    Ohannessian, A; Kaboré, F A; Agostini, A; Lenne Aurier, K; Witjas, T; Azulay, J-P; Karsenty, G

    2013-09-01

    To evaluate the efficacy of chronic transcutaneous tibial nerve stimulation (TNS) on overactive bladder syndrome in female patients with Parkinson's disease (PD) and multiple system atrophy (MSA). A prospective monocentric study enrolled six female patients with PD or MSA suffering from overactive bladder syndrome for a six-week study period. Daily sessions of 20 minutes of TNS were provided. The primary outcome measurement was the Patient Global Impression of Improvement (PGI-I scale). The secondary outcomes measurements were symptom and quality of life scores, bladder diary and urodynamics. The outcomes after 6 weeks of TNS were compared to baseline. TNS was considered as an effective treatment by five patients out of six (83%) who ask to pursue the treatment and were still doing it 6 months after the end of the study. A trend improvement was observed in only two of the secondary evaluation criteria the V8 median score 21/40 to 14/40 (P=0.2) and the maximum cystometric capacity increased from 211 mL ± 106 to 260 mL ± 226 (P=0.6) after SNT. Although urodynamics and symptoms scores did not show significant difference, an efficacy of TNS on overactive bladder in PD and MSA is possible. Additional placebo controlled works enrolling more patients are required to ensure these preliminary results. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  15. Cognitive impairment in patients with clinically isolated syndrome

    Directory of Open Access Journals (Sweden)

    Carolina Fiorin Anhoque

    Full Text Available ABSTRACT Cognitive abnormalities have been extensively studied in Multiple Sclerosis (MS. However, little is known about the cognitive involvement in patients with Clinically Isolated Syndrome (CIS. Objective: This study aimed to investigate cognitive impairment in patients with CIS compared with healthy subjects. Methods: 18 CIS patients and 18 controls were subjected to the Wechsler memory scale, Rey Auditory Verbal Learning, Rey Complex Figure, Paced Auditory Serial Addition, Digit Span, verbal fluency, Stroop color card test, D2, and Digit Symbol tests. Results: CIS patients had significantly worse performance on the Paced Auditory Serial Addition Test (PASAT 2 seconds (P=0.009 and on verbal fluency tests (P=0.0038 than controls. Conclusion: CIS patients had worse cognitive performance than controls on neuropsychological tests evaluating executive functioning.

  16. Growth profiles of 34 patients with Wolf-Hirschhorn syndrome.

    Science.gov (United States)

    Shimojima, Keiko; Yamamoto, Toshiyuki

    2012-03-01

    Wolf-Hirschhorn syndrome (WHS) encompasses multiple congenital anomalies and mental retardation and is caused by partial deletions in the short arm of chromosome 4. Prenatal-onset growth deficiency is one of the WHS characteristics. Assessing and recording growth profiles of patients with WHS were the aims of this study. Anonymous questionnaire surveys were conducted with cooperation of a WHS peer-support group in Japan, and data from 34 WHS patients (12 males and 22 females; age, 1-23 years) were retrospectively collected. Height, weight, and head circumference (occipitofrontal head circumference) were measured and plotted on the standard growth charts of healthy Japanese children. Results indicated that most WHS patients showed growth retardation under the 3rd percentile since the first year of life and extremely poor body-weight gain after pubertal age. These findings are characteristic of WHS patients. The assessed growth patterns in this study could help monitoring and documentation of growth of WHS patients.

  17. Cerebral toxoplasmosis and lymphoma in patients with Acquired Immunodeficiency Syndrome

    International Nuclear Information System (INIS)

    Laviopierre, A.M.; Lawler, G.A.

    1989-01-01

    Toxoplasmosis now constitutes a relatively frequent central nervous system (CNS) complication of AIDS, primary CNS lymphoma being far less common. CT scanning using the double-dose delayed (D-D-D) scan technique has proved an effective way of helping in the diagnosis of these complications. 16 patients with CNS complications of the acquired immunodeficiency syndrome (AIDS) are described. All patients were male homosexuals. The most common demonstrable lesion in the parenchyma was toxoplasmosis, which produced an area of focal oedema, usually containing a central zone of nodular or ring-shaped enhancement. Cerebral atrophy was also a common finding. One patient had diffuse peri-ventricular lymphomatous infiltration, and a further two patients had both cerebral toxoplasmosis and lymphoma. A delayed double dose contrast examination appears to be the most accurate method of outlining the total extent of CNS disease in these patients. 11 refs., 7 figs., 2 tabs

  18. [Characteristics and evolution of patients with Alice in Wonderland syndrome].

    Science.gov (United States)

    Losada-Del Pozo, Rebeca; Cantarín-Extremera, Verónica; García-Peñas, Juan J; Duat-Rodríguez, Anna; López-Marín, Laura; Gutiérrez-Solana, Luis G; Ruiz-Falcó, M Luz

    2011-12-01

    Alice in Wonderland syndrome is a process characterized for complex disorders of the visual perception with multiple etiologies. To evaluate the clinical, electrophysiological, etiological characteristics and natural evolution in children with Alice in Wonderland syndrome. We have realized a retrospective study by what means of a review of 20 clinical histories of 18 year old minor patients diagnosed of Alice in Wonderland syndrome from January 1995 until February 2010. The average of age to the diagnosis was 9.5 ± 3.8 years (range: 4-16 years). It appeared in an acute way in 85% and progressive in 15%. 90% had micropsias and/or macropsias, 85% distortion of the form of the objects, 80% displacement of objects, 45% disturbances of body image, 45% acceleration of the time and 30% sensation of unreality. 95% of the children had many episodes a day; these episodes lasted less than 3 minutes in 90%. Electroencephalogram was realized in all the patients, it was abnormal in 11 cases, in one case was found and epileptic foci (left temporal) and in 10 cases was found posterior slow waves. The tests of neuroimagen were normal in all the patients. The visual evoked potentials were realized in 7 children; five of these children showed higher amplitude in evoked potentials and two of these children had normal. The infectious etiology was found in nine cases (five partners to Epstein-Barr virus), migraine in eight, toxins in two and epilepsy in one case. 80% did not have recurrence. Alice in Wonderland syndrome is a benign process with trend to spontaneous resolution and without recurrence in the majority of the occasions. The principal etiologies are migraine and Epstein-Barr virus infection.

  19. High prevalence of the metabolic syndrome in HIV-infected patients : impact of different definitions of the metabolic syndrome

    NARCIS (Netherlands)

    Worm, Signe W; Friis-Møller, Nina; Bruyand, Mathias; D'Arminio Monforte, Antonella; Rickenbach, Martin; Reiss, Peter; El-Sadr, Wafaa; Phillips, Andrew; Lundgren, Jens; Sabin, Caroline; Schölvinck, Elisabeth H.

    2010-01-01

    INTRODUCTION: This study describes the characteristics of the metabolic syndrome in HIV-positive patients in the Data Collection on Adverse Events of Anti-HIV Drugs study and discusses the impact of different methodological approaches on estimates of the prevalence of metabolic syndrome over time.

  20. High prevalence of the metabolic syndrome in HIV-infected patients: impact of different definitions of the metabolic syndrome.

    NARCIS (Netherlands)

    Worm, S.W.; Friis-Moller, N.; Bruyand, M.; D'Arminio-Monforte, A.; Rickenbach, M.; Reiss, P.; El-Sadr, W.; Phillips, A.; Lundgren, J.; Sabin, C.; Gyssens, I.C.J.; et al.,

    2010-01-01

    INTRODUCTION: This study describes the characteristics of the metabolic syndrome in HIV-positive patients in the Data Collection on Adverse Events of Anti-HIV Drugs study and discusses the impact of different methodological approaches on estimates of the prevalence of metabolic syndrome over time.

  1. High prevalence of the metabolic syndrome in HIV-infected patients: impact of different definitions of the metabolic syndrome

    DEFF Research Database (Denmark)

    Worm, Signe H.Westring; Friis-Møller, Nina; Bruyand, Mathias

    2010-01-01

    This study describes the characteristics of the metabolic syndrome in HIV-positive patients in the Data Collection on Adverse Events of Anti-HIV Drugs study and discusses the impact of different methodological approaches on estimates of the prevalence of metabolic syndrome over time....

  2. Acute carpal tunnel syndrome in a patient with haemophilia.

    Science.gov (United States)

    Mayne, Alistair Ivan William; Howard, Anthony; Kent, Matthew; Banks, Joanne

    2012-07-03

    Acute carpal tunnel syndrome (CTS) is a rare surgical condition usually resulting from wrist trauma. We present the case of a young haemophilic man who developed acute CTS following trivial injury. The patient was initially managed conservatively but symptom progression resulted in carpal tunnel decompression. A literature review and management approach are presented. This is an important complication of haemophilia to be aware of as prompt conservative management can obviate the need for surgery. This case is useful in (a) highlighting the importance of considering a patient's medical history when formulating differential diagnoses and (b) outlining a management approach to this condition.

  3. Waardenburg syndrome type 2 in an african patient

    Directory of Open Access Journals (Sweden)

    H. Otman S

    2005-01-01

    Full Text Available A thirty six year-old African man, born in the Southern part of Libya, presented with congenital deafness and white forelock, variable-sized hypopigmented, depigmented patches and hyperpigmented islands within the areas of hypomelanosis affecting the upper parts of the trunk, both arms and forearms. The nasal root was hypertrophied, but there was a lack of lateral displacement of medial canthi. We report this case of Waardenburg syndrome type 2 (WS 2. As no treatment is available for patients with WS 2, prompt diagnosis and referral to a hearing specialist are crucial for the normal development of patients affected with this condition.

  4. Treatment of adult short bowel syndrome patients with teduglutide

    DEFF Research Database (Denmark)

    Nørholk, Lærke Marijke; Holst, Jens Juul; Jeppesen, Palle Bekker

    2012-01-01

    INTRODUCTION: Parenteral support is lifesaving in short bowel syndrome patients with intestinal failure (SBS-IF), who are unable to compensate for their malabsorption by metabolic or pharmacologic adaptation. Mutually, the symptoms of SBS-IF and the inconveniences and complications in relation...... to parenteral support may cause impairment of the quality of life of SBS-IF patients. Conventional treatments include dietary manipulations, oral rehydration solutions, antidiarrheal and antisecretory treatments. However, the evidence base for these interventions is limited, and treatments improving structural...

  5. Phylogenetic analysis of mitochondrial DNA in a patient with Kearns-Sayre syndrome containing a novel 7629-bp deletion.

    Science.gov (United States)

    Montiel-Sosa, Jose Francisco; Herrero, María Dolores; Munoz, Maria de Lourdes; Aguirre-Campa, Luis Enrique; Pérez-Ramírez, Gerardo; García-Ramírez, Rubén; Ruiz-Pesini, Eduardo; Montoya, Julio

    2013-08-01

    Mitochondrial DNA mutations have been associated with different illnesses in humans, such as Kearns-Sayre syndrome (KSS), which is related to deletions of different sizes and positions among patients. Here, we report a Mexican patient with typical features of KSS containing a novel deletion of 7629 bp in size with 85% heteroplasmy, which has not been previously reported. Sequence analysis revealed 3-bp perfect short direct repeats flanking the deletion region, in addition to 7-bp imperfect direct repeats within 9-10 bp. Furthermore, sequencing, alignment and phylogenetic analysis of the hypervariable region revealed that the patient may belong to a founder Native American haplogroup C4c.

  6. Genomewide association study reveals a risk locus for equine metabolic syndrome in the Arabian horse.

    Science.gov (United States)

    Lewis, S L; Holl, H M; Streeter, C; Posbergh, C; Schanbacher, B J; Place, N J; Mallicote, M F; Long, M T; Brooks, S A

    2017-03-01

    Equine obesity can cause life-threatening secondary chronic conditions, similar to those in humans and other animal species. Equine metabolic syndrome (EMS), primarily characterized by hyperinsulinemia, is often present in obese horses and ponies. Due to clinical similarities to conditions such as pituitary pars intermedia dysfunction (formerly equine Cushing's disease), conclusive diagnosis of EMS often proves challenging. Aside from changes in diet and exercise, few targeted treatments are available for EMS, emphasizing the need for early identification of at-risk individuals to enable implementation of preventative measures. A genomewide association study (GWAS) using Arabian horses with a history of severe laminitis secondary to EMS revealed significant genetic markers near a single candidate gene () that may play a role in cholesterol homeostasis. The best marker, BIEC2-263524 (chr14:69276814 T > C), was correlated with elevated insulin values and increased frequency of laminitis ( = 0.0024 and = 9.663 × 10, respectively). In a second population of Arabian horses, the BIEC2-263524 marker maintained its associations with higher modified insulin-to-glucose ratio (MIRG) values ( = 0.0056) and BCS ( = 0.0063). Screening of the predicted coding regions by sequencing identified a polymorphic guanine homopolymer and 5 haplotypes in the 3' untranslated region (UTR). An 11 guanine (11-G) allele at was correlated with elevated insulin values in the GWAS population ( = 0.0008) and, in the second population, elevated MIRG and increased BCS > 6.5 ( = 0.0055 and = 0.0162, respectively). The BIEC2-263524-C and the 3' UTR -11(G) polymorphisms were correlated at a 98% frequency, indicating strong linkage disequilibrium across this 150-kb haplotype. Assays for these markers could diagnose horses with a genetic predisposition to develop obesity. Additionally, discovery of FAM174A function may improve our understanding of the etiology of this troubling illness in the horse and

  7. Cognitive, Affective Problems and Renal Cross Ectopy in a Patient with 48,XXYY/47,XYY Syndrome

    Directory of Open Access Journals (Sweden)

    Sefa Resim

    2015-01-01

    Full Text Available Klinefelter syndrome is the most common sex chromosome abnormality (SCA in infertile patients and 47,XXY genomic configuration constitutes most of the cases. However, additional Xs and/or Y such as 48,XXYY, 48,XXXY, and 47,XYY can occur less frequently than 47,XXY. Those configurations were considered as variants of Klinefelter syndrome. In this report, we present an infertile man with tall stature and decreased testicular volume. Semen analysis and hormonal evaluation supported the diagnosis of nonobstructive azoospermia. Genetic investigation demonstrated an abnormal male karyotype with two X chromosomes and two Y chromosomes consistent with 48,XXYY(17/47,XYY (13. Additionally, the patient expressed cognitive and affective problems which were documented by psychomotor retardation and borderline intelligence measured by an IQ value between 70 and 80. Systemic evaluation also revealed cross ectopy and malrotation of the right kidney in the patient. The couple was referred to microtesticular sperm extraction (micro-TESE/intracytoplasmic sperm injection (ICSI cycles and preimplantation genetic diagnosis (PGD. To the best of our knowledge, this is the first report of combination of XYY and XXYY syndromes associated with cognitive, affective dysfunction and renal malrotation.

  8. Aortic dissection in patients with Marfan syndrome based on the IRAD data.

    Science.gov (United States)

    de Beaufort, Hector W L; Trimarchi, Santi; Korach, Amit; Di Eusanio, Marco; Gilon, Dan; Montgomery, Daniel G; Evangelista, Arturo; Braverman, Alan C; Chen, Edward P; Isselbacher, Eric M; Gleason, Thomas G; De Vincentiis, Carlo; Sundt, Thoralf M; Patel, Himanshu J; Eagle, Kim A

    2017-11-01

    Between January 1996 and May 2017, the International Registry on Acute Aortic Dissections has collected information on a total of 6,424 consecutive patients with acute aortic dissection, including 258 individuals with a diagnosis of Marfan syndrome. Patients with Marfan syndrome presented at a significantly younger age compared to patients without Marfan syndrome (38.2±13.2 vs . 63.0±14.0 years; PMarfan syndrome cohort, but no larger diameters more distally. The in-hospital mortality in type A dissection was not significantly different in patients with or without Marfan syndrome, despite the differences in age and comorbidities and the lower incidence of aortic rupture in the Marfan syndrome cohort. In contrast, the in-hospital mortality of Marfan syndrome patients with type B dissection appears to be lower than that of patients without Marfan syndrome. The Marfan syndrome cohort that was treated with open surgery for type B dissection seemed to do especially well, with a 0% mortality rate (n=27). Follow-up data for type A and B dissections combined show an estimated five-year survival rate of 80.1% and an estimated reintervention rate of 55.3% in patients with Marfan syndrome. Such a high rate of reinterventions highlights the need for careful surveillance and treatment for patients with Marfan syndrome surviving the acute phase of aortic dissection.

  9. Re-interventions on the thoracic and thoracoabdominal aorta in patients with Marfan syndrome

    OpenAIRE

    Schoenhoff, Florian S.; Carrel, Thierry P.

    2017-01-01

    The advent of multi-gene panel genetic testing and the discovery of new syndromic and non-syndromic forms of connective tissue disorders have established thoracic aortic aneurysms as a genetically mediated disease. Surgical results in patients with Marfan syndrome (MFS) provide an important benchmark for this patient population. Prophylactic aortic root surgery prevents acute dissection and has contributed to the improved survival of MFS patients. In the majority of patients, re-interventions...

  10. Evaluation of the temporal bone malformations by HRCT in 17 patients with Treacher Collins Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Chihara, Yasuhiro [Kanto Medical Center NTT EC, Tokyo (Japan); Takegoshi, Hideki [Saitama Medical School, Moroyama (Japan); Kaga, Kimitaka [Tokyo Univ. (Japan). Faculty of Medicine

    2003-05-01

    Patients with Treacher Collins Syndrome have severe middle ear malformations. We have studied high-resolution computed tomography (HRCT) of seventeen patients with Treacher Collins Syndrome by using Jahrsdoerfer's grading system. Four patients underwent canalplasty. The appearance of the auricle (which we evaluated by using Marx's grading system) was correlated with the development of the middle ear in patients with Treacher Collins Syndrome. The four cases who underwent canalplasty were using a canal type hearing aid. (author)

  11. Characterization of Burning Mouth Syndrome in Patients with Parkinson's Disease.

    Science.gov (United States)

    Bonenfant, David; Rompré, Pierre H; Rei, Nathalie; Jodoin, Nicolas; Soland, Valerie Lynn; Rey, Veronica; Brefel-Courbon, Christine; Ory-Magne, Fabienne; Rascol, Olivier; Blanchet, Pierre J

    2016-01-01

    To determine the prevalence and characteristics of burning mouth syndrome (BMS) in a Parkinson's disease (PD) population through a self-administered, custom-made survey. A total of 218 surveys were collected during regular outpatient visits at two Movement Disorders Clinics in Montreal (Canada) and Toulouse (France) to gather information about pain experience, PD-related symptoms, and oral and general health. A neurologist confirmed the diagnosis of PD, drug treatment, Hoehn-Yahr stage, and Schwab & England Activity of Daily Living score. Data between groups were compared using the independent samples Mann-Whitney U test and two-sided exact Fisher test. Data from 203 surveys were analyzed. BMS was reported by eight subjects (seven females and one male), resulting in a prevalence of 4.0% (95% confidence interval [CI] = 2.1-7.8). Five participants with chronic nonburning oral pain were excluded. PD severity and levodopa equivalent daily dose did not differ between non-BMS and BMS participants. Mean poor oral health index was higher in BMS compared to non-BMS subjects (49.0 vs 32.2 points, P < .05). BMS manifested after PD onset in seven patients, did not occur on a daily basis in four, and always coexisted with restless legs syndrome. This survey yielded a low prevalence of BMS in PD patients, indicating no strong link between the two conditions. An augmenting effect such as that resulting from drug treatment in restless legs syndrome or sensory neuropathy cannot be excluded.

  12. [Challenges for Urologists in the Care of Patients with Lynch Syndrome: Example of A Patient with Muir-Torre Syndrome, A Subtype of Lynch Syndrome].

    Science.gov (United States)

    Löhmann, C; Kächele, V; Martinschek, A; Sparwasser, C

    2016-04-01

    The Muir-Torre syndrome (MTS) is a subtype of the Lynch syndrome (hereditary nonpolyposis colorectal cancer). In addition to tumours typically related to LS, MTS is associated with tumours of the sebaceous gland or keratoacanthoma. MTS is mostly characterised by a mutation of MSH2. In contrast to LS-associated tumours carrying a mutation of MLH1, MSH6 or PMS2, the frequency of urological neoplasms seems to be higher in Lynch syndrome patients with MSH2 mutation. Urological implications for the care of patients with LS or MTS include the early diagnosis of a possible hereditary background in patients presenting with urothelial cancers at an atypically young age and potentially the surveillance of carriers of mutations with an increased risk for urothelial cancers like males harbouring a MSH2 mutation. We report on a patient with various types of LS-associated cancers and cancers without a known association with LS, who died from multifocal metastasis of urothelial cancer. This case report shows that close interdisciplinary cooperation is mandatory for the treatment of patients with complex diseases. © Georg Thieme Verlag KG Stuttgart · New York.

  13. Evaluation of renal resistive index in cirrhotic patients for predicting the hepatirenal syndrome

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    Baek, Seung Yon; Kim, Hyae young; Yi, Sun Young [Ewha WoMans Univ. Mokdong Hospital, Seoul (Korea, Republic of)

    1996-04-01

    To evaluate the usefulness of renal resistive index(RI) in patients with liver cirrhosis as an indicator for predicting hepatorenal syndrome. Renal RIs of thirty cirrhotic patients were analyzed using the gray-scale and Doppler ultrasonograms. As a control group, eight normal subjects were included. Renal RIs were measured at three sites of interlobar or arcuate arteries of both kidneys. The patients were divided into three groups (A, B, or C) according to the Child-Turcotte-Pugh classification and their serum BUN and creatinine levels were compared. We determined whether RIs of normal controls differed from those of cirrhotic patients or whether RIs of cirrhotic patients correlated with the Child-Turcotte-Pugh classification or BUN and creatinine levels. Mean RIs(0.63 {+-}0.33) of normal subjects were statistically different from those(0.67 {+-} 0.05) of cirrhotic patients(P=0.009). RIs of group A(n=6), B(n=9) and C(n=15) were 0.65 {+-} 0.03, 0.65 {+-} 0.04 and 0.70 {+-} 0.04, respectively. The ANOVA test revealed statistically significant differences between the three groups(F ratio=4.472, P=0.021). RIs did not correlate with BUN or creatinine levels. RI could be used as an index for predicting hepatorenal syndrome before the renal function becomes impaired.

  14. PATELLAR REALIGNMENT AND FUNCTIONAL PERFORMANCE IN PATIENTS WITH PATELLOFEMORAL PAIN SYNDROME

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    Abeer Farag Hanafy

    2016-02-01

    Full Text Available Background: Patellar taping is used for pain relief in patients with patello-femoral pain syndrome (PFPS. Yet, there is lack of knowledge regarding its effect on the functional performance. The purpose of the study was to examine the effects of therapeutic patellar taping on the Visual Analogue Scale (VAS pain scores, number of bilateral squats, and stair climbing time in patients with PFPS. Methods: 30 female patients with PFPS with mean age 20.3± 1.46 years, weight 66.1± 9.68 kg, height 165.83 ± 3.89 cm and BMI 23.91 ± 3.50kg/m2 participated in the study. The subjects were tested randomly under three taping conditions;namely therapeutic, placebo and no-tape. The tested limb was determined to be the affected limb in patients with unilateral affection, and the symptomatic limb in patients with bilateral affection. Data was collected using the Visual Analogue Scale (VAS, Bilateral Squat Test and Timed Stair Ambulation Test. Results: Repeated measures Multivariate Analysis of Variance (MANOVA revealed that the number of bilateral squats increased significantly (p0.05 in between for the number of bilateral squats and stair climbing time. Conclusion: The findings indicated that therapeutic patellar taping is effective in improving functional performance and reducing pain in patients with patellofemoral pain syndrome (PFPS.

  15. [Phenotypic and genetic analysis of a patient presented with Tietz/Waardenburg type II a syndrome].

    Science.gov (United States)

    Wang, Huanhuan; Tang, Lifang; Zhang, Jingmin; Hu, Qin; Chen, Yingwei; Xiao, Bing

    2015-08-01

    To determine the genetic cause for a patient featuring decreased pigmentation of the skin and iris, hearing loss and multiple congenital anomalies. Routine chromosomal banding was performed to analyze the karyotype of the patient and his parents. Single nucleotide polymorphism array (SNP array) was employed to identify cryptic chromosome aberrations, and quantitative real-time PCR was used to confirm the results. Karyotype analysis has revealed no obvious anomaly for the patient and his parents. SNP array analysis of the patient has demonstrated a 3.9 Mb deletion encompassing 3p13p14.1, which caused loss of entire MITF gene. The deletion was confirmed by quantitative real-time PCR. Clinical features of the patient have included severe bilateral hearing loss, decreased pigmentation of the skin and iris and multiple congenital anomalies. The patient, carrying a 3p13p14.1 deletion, has features of Tietz syndrome/Waardenburg syndrome type IIa. This case may provide additional data for the study of genotype-phenotype correlation of this disease.

  16. [Electroclinical characteristics of a patient with ring chromosome 20 syndrome].

    Science.gov (United States)

    Vega-Zelaya, Lorena; Alonso-Cerezo, Concepción; Quesada, Juan F; Sola, Rafael G; Pastor, Jesús

    2014-05-16

    The ring chromosome 20 syndrome (r20) is a rare genetic disorder with a late diagnosis. A 17 year old boy with drug-resistant epilepsy of 14 years of evolution, which has moderate mental retardation, behavioral alterations and seizures consisting of complex non-convulsive status and generalized seizures during wakefulness, along with more subtle epileptic manifestations during sleep. Karyotype in peripheral blood showed the existence of a ring chromosome 20, whose breakpoints were p13q13.3, presenting a mosaicism 46,XY[23]/46,XY,r(20)(p13q13.3)[25]. The epileptic r20 syndrome seems to have a characteristic electroclinical phenotype and, although not pathognomonic, should be sufficient for all patients who meet a karyotype in peripheral blood, thus avoiding multiple trials with unnecessary drugs and exhaustive studies. In this sense, the study of sleep EEG may be helpful.

  17. Cardiovascular Risk Stratification in Patients with Metabolic Syndrome Without Diabetes or Cardiovascular Disease: Usefulness of Metabolic Syndrome Severity Score.

    Science.gov (United States)

    Masson, Walter; Epstein, Teo; Huerín, Melina; Lobo, Lorenzo Martín; Molinero, Graciela; Angel, Adriana; Masson, Gerardo; Millán, Diana; De Francesca, Salvador; Vitagliano, Laura; Cafferata, Alberto; Losada, Pablo

    2017-09-01

    The estimated cardiovascular risk determined by the different risk scores, could be heterogeneous in patients with metabolic syndrome without diabetes or vascular disease. This risk stratification could be improved by detecting subclinical carotid atheromatosis. To estimate the cardiovascular risk measured by different scores in patients with metabolic syndrome and analyze its association with the presence of carotid plaque. Non-diabetic patients with metabolic syndrome (Adult Treatment Panel III definition) without cardiovascular disease were enrolled. The Framingham score, the Reynolds score, the new score proposed by the 2013 ACC/AHA Guidelines and the Metabolic Syndrome Severity Calculator were calculated. Prevalence of carotid plaque was determined by ultrasound examination. A Receiver Operating Characteristic analysis was performed. A total of 238 patients were enrolled. Most patients were stratified as "low risk" by Framingham score (64%) and Reynolds score (70.1%). Using the 2013 ACC/AHA score, 45.3% of the population had a risk ≥7.5%. A significant correlation was found between classic scores but the agreement (concordance) was moderate. The correlation between classical scores and the Metabolic Syndrome Severity Calculator was poor. Overall, the prevalence of carotid plaque was 28.2%. The continuous metabolic syndrome score used in our study showed a good predictive power to detect carotid plaque (area under the curve 0.752). In this population, the calculated cardiovascular risk was heterogenic. The prevalence of carotid plaque was high. The Metabolic Syndrome Severity Calculator showed a good predictive power to detect carotid plaque.

  18. Usefulness of spinal magnetic resonance imaging in patients with myelodysplastic syndromes

    International Nuclear Information System (INIS)

    Kwiatkowska-Pamuła, Anna; Ziółko, Ewa; Muc-Wierzgoń, Małgorzata; Nowakowska-Zajdel, Ewa; Podwińska, Ewa; Adamczyk, Tomasz

    2013-01-01

    Myelodysplastic syndrome is a rare, chronic hematological disease characterized by heterogeneous clinical presentations. Subtypes of myelodysplastic syndrome are characterized by different survival times and ability to transform into acute myeloid leukemia. The objective of the study included the assessment of the relationship between the images obtained by magnetic resonance scans of lumbar spine and the clinical symptoms of the disease in patients diagnosed with myelodysplastic syndrome, as well as the assessment of the correlation of the images with the phase of transformation into acute myeloid leukemia. The study-related tests were carried out in Specialist Hospital No. 1 in Bytom between 2006 and 2011 and involved 53 patients aged 55÷77, divided into groups according to the diagnosed subtype of myelodysplastic syndrome. The study also included the prognosis of overall survival and time to transformation into AML on the basis of valid classifications. The spinal magnetic resonance scans were obtained from medical documentation. The analysis included images obtained using T1- and T2-weighted sequences in sagittal, transverse and frontal planes in all patients, images obtained using the STIR sequence from 21 patients as well as 40 images obtained after contrast administration. The statistical analysis of the results was carried out using STATISTICA software. The obtained results demonstrated that the magnetic resonance scans revealed statistically significant changes in the images of bone marrow in vertebral body scans; with a decrease in the intensity of MRI signals correlated with the RAEB subtype, particularly with transformation into acute myeloid leukemia as well as with the high IPSS risk score with regard to the time of survival and transformation into acute myeloid leukemia. The research-related test results indicate the importance of magnetic resonance imaging in diagnostics and the assessment of the disease dynamics

  19. Outcomes following operative management of thoracic outlet syndrome in the pediatric patients.

    Science.gov (United States)

    Matos, Jesus M; Gonzalez, Lorena; Kfoury, Elias; Echeverria, Angela; Bechara, Carlos F; Lin, Peter H

    2018-01-01

    Objectives Thoracic outlet syndrome, a condition commonly reported in adults, occurs infrequently in the pediatric population. The objective of this study was to assess the outcome of surgical interventions of thoracic outlet syndrome in pediatric patients. Methods Clinical records of all pediatric patients with thoracic outlet syndrome who underwent operative repair from 2002 to 2015 in a tertiary pediatric hospital were reviewed. Pertinent clinical variables and treatment outcomes were analyzed. Results Sixty-eight patients underwent a total of 72 thoracic outlet syndrome operations (mean age 15.7 years). Venous, neurogenic, and arterial thoracic outlet syndromes occurred in 39 (57%), 21 (31%), and 8 (12%) patients, respectively. Common risk factors for children with venous thoracic outlet syndrome included sports-related injuries (40%) and hypercoagulable disorders (33%). Thirty-five patients (90%) with venous thoracic outlet syndrome underwent catheter-based interventions followed by surgical decompression. All patients underwent first rib resection with scalenectomy via either a supraclavicular approach (n = 60, 88%) or combined supraclavicular and infraclavicular incisions (n = 8, 12%). Concomitant temporary arteriovenous fistula creation was performed in 14 patients (36%). Three patients with arterial thoracic outlet syndrome underwent first rib resection with concomitant subclavian artery aneurysm repair. The mean follow-up duration was 38.4 ± 11.6 months. Long-term symptomatic relief was achieved in 94% of patients. Conclusions Venous thoracic outlet syndrome is the most common form of thoracic outlet syndrome in children, followed by neurogenic and arterial thoracic outlet syndromes. Competitive sports-related injuries remain the most common risk factor for venous and neurogenic thoracic outlet syndromes. Temporary arteriovenous fistula creation was useful in venous thoracic outlet syndrome patients in selective children. Surgical

  20. Targeted exome sequencing integrated with clinicopathological information reveals novel and rare mutations in atypical, suspected and unknown cases of Alport syndrome or proteinuria.

    Directory of Open Access Journals (Sweden)

    Rajshekhar Chatterjee

    Full Text Available We applied customized targeted next-generation exome sequencing (NGS to determine if mutations in genes associated with renal malformations, Alport syndrome (AS or nephrotic syndrome are a potential cause of renal abnormalities in patients with equivocal or atypical presentation. We first sequenced 4,041 exons representing 292 kidney disease genes in a Caucasian woman with a history of congenital vesicoureteral reflux (VUR, recurrent urinary tract infections and hydronephrosis who presented with nephrotic range proteinuria at the age of 45. Her biopsy was remarkable for focal segmental glomerulosclerosis (FSGS, a potential complication of longstanding VUR. She had no family history of renal disease. Her proteinuria improved initially, however, several years later she presented with worsening proteinuria and microhematuria. NGS analysis revealed two deleterious COL4A3 mutations, one novel and the other previously reported in AS, and a novel deleterious SALL2 mutation, a gene linked to renal malformations. Pedigree analysis confirmed that COL4A3 mutations were nonallelic and compound heterozygous. The genomic results in conjunction with subsequent abnormal electron microscopy, Collagen IV minor chain immunohistochemistry and progressive sensorineural hearing loss confirmed AS. We then modified our NGS approach to enable more efficient discovery of variants associated with AS or a subset of FSGS by multiplexing targeted exome sequencing of 19 genes associated with AS or FSGS in 14 patients. Using this approach, we found novel or known COL4A3 or COL4A5 mutations in a subset of patients with clinically diagnosed or suspected AS, APOL1 variants associated with FSGS in African Americans and novel mutations in genes associated with nephrotic syndrome. These studies demonstrate the successful application of targeted capture-based exome sequencing to simultaneously evaluate genetic variations in many genes in patients with complex renal phenotypes and

  1. Interconnection between metabolic syndrome components in obese patients

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    E.G. Bayanova

    2017-03-01

    Full Text Available Background. The aim of our study is to deter­mine intercommunication between the indexes of insulin resistance, С-peptide, leptin, cortisol, thyroid hormones in obese patients. Materials and methods. The study involved 30 persons with the average body mass index (BMI 35.1 kg/м2. They were divided into three groups by this index depending on the obesity severity. Results. The indexes of insulin, С-peptide, HOMA index with the enhanced BMI had a tendency to the increase. Their average indexes were highest in patients with III stage obesity. An increased level of ТSH was determined for the 31 % patients of the first group, in 25 % patients of the second group and in 50 % patients of the third group. Free thyroxine (fТ4 level was highest in the patients of the second group, fТ4 indexes under 0.93 ng/dl were observed in 25 % patients of the first group and in 50 % patients of the third group. The cortisol level maximally rose in the patients of the second group and went down a little in the patients of the third group. The leptin indexes rose with the increase of BMI. Conclusions. Metabolic syndrome develops on a background of the decline of thyroid function and increase of insulin secretion.

  2. Dapsone hypersensitivity syndrome among leprosy patients in China.

    Science.gov (United States)

    Tian, Weiwei; Shen, Jianping; Zhou, Min; Yan, Liangbin; Zhang, Guocheng

    2012-12-01

    To Study the incidence and clinical characteristics of dapsone hypersensitivity syndrome (DHS) among MDT-treated leprosy patients from 2006 to 2009 in China. A retrospective survey was carried out throughout China using a specially designed questionnaire. From 2006 to 2009, there were 63 new patients reported to have DHS with an incidence of 1.0%. Among these patients, 13 were complete types of DHS, the others were incomplete ones. The average age of patients with DHS was 38 years and the male to female ratio was 2.15. The average incubation period from taking dapsone to DHS onset was 32.8 days (2-6 weeks). There were 60 (95.2%) patients who presented with various skin lesions, 56 (88.9%) with fever, 40 (63.5%) with hepatic damage and 22 (34.9%) with lymphopathy. Seven patients died with a death rate of 11.1% among all patients with DHS. DHS is a serious adverse event resulted from dapsone. It can occur in a small number of new leprosy patients treated with dapsone containing regimen. Some patients may die of DHS if not taking timely and adequate management. Therefore local doctors should pay an attention to DHS among leprosy patients newly treated with the dapsone-containing MDT regimen.

  3. Daily affect relations in fibromyalgia patients reveal positive affective disturbance.

    Science.gov (United States)

    Finan, Patrick H; Zautra, Alex J; Davis, Mary C

    2009-05-01

    To examine daily positive affective disturbance in the context of negative affect (NA) and pain among patients with fibromyalgia (FM) to determine a) if FM patients experience a deficit in daily positive affect (PA) relative to osteoarthritis (OA) patients; b) if FM patients differ from OA patients in the day-to-day relations of PA and NA; and c) if patients diagnosed with both OA and FM differ from patients with either OA-only or FM-only with respect to major outcomes. A total of 260 women with physician-diagnosed OA (n = 106), FM (n = 53), or OA/FM (n = 101) completed a 30-day electronic diary. Participants were assessed once daily on levels of PA, NA, and pain. Multilevel models indicated that FM patients had less overall PA than OA patients and exhibited a stronger inverse PA-NA relation. Analyses further suggest that the OA/FM group may have been the most impaired of the three included in our study. This group was responsible for a lagged effect of PA on both affects, whereby high PA days resulted in low next-day PA and high next-day NA. FM patients exhibit a PA disturbance compared with OA patients. This disturbance is reflected by an overall deficit in PA and an inability to sustain PA in the face of pain and NA. Patients with both OA and FM may represent a subgroup of FM that is at particular risk for dysregulation of PA.

  4. Cowden syndrome detected by FDG PET/CT in an endometrial cancer patient

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    Kang, Yun Hee; Lee, Hye Kyung [Eulji University Hospital, Daejeon (Korea, Republic of); Park, Geon [Dept. of Radiology, The Catholic University of Korea, Daejeon Saint Mary' s Hospital, Daejeon (Korea, Republic of)

    2016-09-15

    Cowden syndrome (CS) is a rare autosomal dominant disorder characterized by multiple hamartomas in various tissues and cancers (breast, thyroid, and endometrium). We report CS of the esophagus and gastrointestinal tract that was incidentally detected by positron emission tomography/computed tomography (PET/CT) at postoperative surveillance in an endometrial cancer patient. PET/CT showed mildly increased FDG uptake along the entire esophagus and stomach. Upper GI endoscopy and histologic examination revealed glycogenic acanthosis of the esophagus and several hundred gastric polyps. In our case, increased FDG uptake of the esophageal wall contributed to the diagnosis of CS.

  5. Evaluation of Visual Evoked Potentials in Patient with Angelmans Syndrome - Case Report

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    Tatjana Knezevic

    2013-06-01

    Full Text Available Background: Angelman syndrome (AS is a genetic disorder with varying degrees of neurological impairment. It is often associated with ocular involvement. Case Report: We present a child diagnosed with AS who had a deletion on the short arm of chromosome 15. The child seemed to be happy, with developmental delay, speech problem, and altering strabismus. To assess the potential presence and degree of damage in the visual pathway, we recorded monocular flash visual evoked potentials (VEPs. Our results revealed the presence of severe central afferent dysfunction in both optical pathways. Conclusion: VEPs can be used in patients with AS and visual disturbances to assess the integrity of the visual system.

  6. The Impact of Hypertension on Patients with Acute Coronary Syndromes

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    Claudio Picariello

    2011-01-01

    Full Text Available Arterial chronic hypertension (HTN is a well-known cardiovascular risk factor for development of atherosclerosis. In order to explain the relation between HTN and acute coronary syndromes the following factors should be considered: (1 risk factors are shared by the diseases, such as genetic risk, insulin resistance, sympathetic hyperactivity, and vasoactive substances (i.e., angiotensin II; (2 hypertension is associated with the development of atherosclerosis (which in turn contributes to progression of myocardial infarction. From all the registries and the data available up to now, hypertensive patients with ACS are more likely to be older, female, of nonwhite ethnicity, and having a higher prevalence of comorbidities. Data on the prognostic role of a preexisting hypertensive state in ACS patients are so far contrasting. The aim of the present paper is to focus on hypertensive patients with ACS, in order to better elucidate whether these patients are at higher risk and deserve a tailored approach for management and followup.

  7. Patellofemoral morphometry in patients with idiopathic patellofemoral pain syndrome

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    Mar Carrion Martin, Maria del [Department of Rehabilitation, Hospital of Traumatology (Ciudad Sanitaria Virgen de las Nieves), Carretera de Jaen SN, 18014 Granada (Spain); Ruiz Santiago, Fernando, E-mail: ferruizsan@terra.e [Department of Radiology, Hospital of Traumatology (Ciudad Sanitaria Virgen de las Nieves), Carretera de Jaen SN, 18014 Granada (Spain); Pozuelo Calvo, Rocio [Department of Rehabilitation, Hospital of Traumatology (Ciudad Sanitaria Virgen de las Nieves), Carretera de Jaen SN, 18014 Granada (Spain); Guzman Alvarez, Luis [Department of Radiology, Hospital of Traumatology (Ciudad Sanitaria Virgen de las Nieves), Carretera de Jaen SN, 18014 Granada (Spain)

    2010-07-15

    Purpose: To compare clinical and computed tomography (CT) measures in extension, 20{sup o} and 30{sup o} of flexion of symptomatic knees of patient with idiopathic patellofemoral pain syndrome with the contra lateral asymptomatic knee. Materials and methods: Knees of 52 consecutive patients with idiopathic patellofemoral pain were studied with CT. In 28 patients this condition was unilateral and asymptomatic knee was used as control; 76 knees were symptomatic. Results: In patients with idiopathic patellofemoral pain we found a greater Q angle and internal condylar facet width in symptomatic knees with regard to asymptomatic knees. Conclusion: Greater Q angle and medial condylar facet can lead to overpressure on the medial knee compartment during maneuvers that increase contact between patella and medial condylar facet, such as knee flexion and squatting, contributing to development of idiopathic patellofemoral pain.

  8. Evaluation of the relationship between pelvic fracture and abdominal compartment syndrome in traumatic patients

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    Sheikhi Rahim Ali

    2013-01-01

    Full Text Available Introduction: An increase in abdominal pressure can lead to so-called intra-abdominal compartment syndrome (ACS. Multiple factors such as an increase in retroperitoneal volume due to pancreatitis, bleeding and edema as a result of pelvic fracture can lead to compartment syndrome. Prevention is better than cure in compartment syndrome. By measuring the intra-abdominal pressure (IAP through the bladder, a quick and accurate assessment of abdominal pressure is achieved. Therefore, this study aimed to evaluate the relationship between pelvic fracture and ACS in traumatic patients. Materials and Methods: This research was a descriptive-analytical study conducted on 100 patients referring to the Shiraz Nemazee Hospital in 2010. IAP was monitored every 4 h in patients suspected to be at high risk for ACS, e.g., those undergoing severe abdominal trauma and pelvic fracture. The IAP was measured via the urinary bladder using the procedure described by Kron et al. Data collected were analyzed using SPSS software. Results: The findings showed that ACS occurred in 28 of 100 patients. With regard to the associated injuries with abdominal trauma, 19% of all patients and 46/42% of the patients with ACS had pelvic fracture. Chi-square test revealed a significant relationship between pelvic fracture and incidence rate of ACS ( P < 0.001. Conclusions: According to the collected data, pelvic fracture due to a trauma can be one of the important causes of an increase in IAP and ACS. In this lethal condition, prevention is better than cure. Therefore, serial measurement of IAP through the bladder in high-risk patients (those with pelvic fracture by trauma is recommended to the nurses to diagnose this condition and to decrease the incidence of mortality.

  9. Long-term mortality of patients with West syndrome.

    Science.gov (United States)

    Sillanpää, Matti; Riikonen, Raili; Saarinen, Maiju M; Schmidt, Dieter

    2016-09-01

    To study long-term survival and mortality among patients with West syndrome. The study population included all children born in 1960-1976 and treated for West syndrome in three tertiary care hospitals in Helsinki, Finland. The participants were prospectively followed for five decades for survival. Death data were derived from the National Causes of Death Register of the Population Register Center of Statistics Finland. During follow-up, 102 (49%) of 207 patients had died at the mean age of 19 years. The mean overall annual mortality rate was 15.3 per 1,000 patient-years. The rates ranged from 18.2 per 1,000 after 10 years to 17.2 per 1,000 after 20 years and 15.4 per 1,000 patient-years after 40 years of follow-up. One fourth (25%) had died by 17.2 (95% CI 11.8-22.7) years and 50% by 48.6 (95% CI 38.5-NA) years of follow-up. Etiology at onset was symptomatic in 87% patients and cryptogenic in 13%; 6 of the latter 26 patients later turned out to be symptomatic. The mean annual mortality rate was 3.7 per 1,000 for 4 patients with cryptogenic etiology and 17.6 per 1,000 for those with symptomatic etiology. The hazard of death was fivefold in patients with symptomatic etiology versus cryptogenic etiology. The overall autopsy rate was 73%. Pneumonia was the most frequent cause of death (46%). All patients who died of pneumonia had symptomatic etiology. SUDEP occurred in 10 patients and was the most common epilepsy-related cause of death (10%). Risk of excess death of participants with West syndrome is not limited to early age but continues into adulthood, particularly in those with symptomatic etiology, and leads to death in half the cases at around 50 years of age. Measures should be directed to prevent pneumonia, the most common overall cause, and SUDEP, the most frequent seizure-related cause, of death.

  10. B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.

    Science.gov (United States)

    Maroofian, Reza; Riemersma, Moniek; Jae, Lucas T; Zhianabed, Narges; Willemsen, Marjolein H; Wissink-Lindhout, Willemijn M; Willemsen, Michèl A; de Brouwer, Arjan P M; Mehrjardi, Mohammad Yahya Vahidi; Ashrafi, Mahmoud Reza; Kusters, Benno; Kleefstra, Tjitske; Jamshidi, Yalda; Nasseri, Mojila; Pfundt, Rolph; Brummelkamp, Thijn R; Abbaszadegan, Mohammad Reza; Lefeber, Dirk J; van Bokhoven, Hans

    2017-12-22

    The phenotypic severity of congenital muscular dystrophy-dystroglycanopathy (MDDG) syndromes associated with aberrant glycosylation of α-dystroglycan ranges from the severe Walker-Warburg syndrome or muscle-eye-brain disease to mild, late-onset, isolated limb-girdle muscular dystrophy without neural involvement. However, muscular dystrophy is invariably found across the spectrum of MDDG patients. Using linkage mapping and whole-exome sequencing in two families with an unexplained neurodevelopmental disorder, we have identified homozygous and compound heterozygous mutations in B3GALNT2. The first family comprises two brothers of Dutch non-consanguineous parents presenting with mild ID and behavioral problems. Immunohistochemical analysis of muscle biopsy revealed no significant aberrations, in line with the absence of a muscular phenotype in the affected siblings. The second family includes five affected individuals from an Iranian consanguineous kindred with mild-to-moderate intellectual disability (ID) and epilepsy without any notable neuroimaging, muscle, or eye abnormalities. Complementation assays of the compound heterozygous mutations identified in the two brothers had a comparable effect on the O-glycosylation of α-dystroglycan as previously reported mutations that are associated with severe muscular phenotypes. In conclusion, we show that mutations in B3GALNT2 can give rise to a novel MDDG syndrome presentation, characterized by ID associated variably with seizure, but without any apparent muscular involvement. Importantly, B3GALNT2 activity does not fully correlate with the severity of the phenotype as assessed by the complementation assay.

  11. Secondary Sjogren's Syndrome in 83 Patients With Rheumatoid Arthritis

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    Asghar Hajiabbasi

    2016-07-01

    Full Text Available Sjogren syndrome (SS can occur alone, primary Sjogren syndrome, or in association with other rheumatic diseases, secondary Sjogren syndrome (sSS, such as Rheumatoid arthritis (RA. The occurrence of Sjogren syndrome with RA makes it course worse and increases high morbidity and mortality of RA. In this exploratory study we aim to determine the prevalence of sSS (diagnosed based on the revised version of American–European consensus Group Classification Criteria: AUCG-criteria, sicca symptoms (dry eye, dry mouth, positive autoantibody tests (Anti RO or Anti-LA antibodies, UWSFR (Unstimulated Whole Salivary Flow Rate, Schirmer and Lissamine test. In this cross-sectional study, eighty three consecutive RA patients (according to American College of Rheumatology criteria 1987 who were visited at rheumatology clinic of Razi General Hospital located in the north of Iran entered into our study. Our exclusion criteria was a positive history of past head and neck radiation treatment, Hepatitis C infection, acquired immunodeficiency disease (AIDS, pre-existing lymphoma, sarcoidosis, graft versus host disease, use of anticholinergic drugs (including neuroleptics, antidepressants, antihypertensive and parasympatholytics. They examined with UWSFR by a rheumatologist and with Schirmer test and Lissamine test by an ophthalmologist. Participants were 90.4% female with the mean age 48.3±13 years. Duration of RA was in 36.1% less than 5 years, in 22.9% 5-10 years, in 12.1% 11-15 years and in 28.9% more than 15 years. Our results demonstrated that the prevalence of sSS was 5.9% (CI:0.6%-10.5%. Number of 27.7% of RA patients positively responded to at least one question about sicca symptoms. Among objective tests, only Positive UWSFR and Lissamine test were significantly more common in RA patients with sSS in comparison to ones without sSS (P<0.001, P=0.01 respectively. In RA patients, we found a linear trend between sicca symptoms and aging (P=0.02. In patients

  12. Interleukin-10 serum level in acute coronary syndrome patients

    Directory of Open Access Journals (Sweden)

    Idrus Alwi

    2009-09-01

    Full Text Available Aim To compare plasma IL-10 concentrations in patients with Acute Coronary Syndrome (ACS with those in Coronary Artery Disease (CAD.Methods ACS patients hospitalized in intensive coronary care unit (ICCU of Cipto Mangunkusumo Hospital/Faculty of Medicine University of Indonesia (CMH/FMUI, Persahabatan Hospital, MMC Hospital, and Medistra Hospital, Jakarta, between May 2005 and May 2006, were included in this study. The ambulatory CAD patients were taken as comparator. The serum IL-10 level was measured by immunoassay method, and compared by using Independent Student’s t-test. To investigate whether IL-10 serum level could predict ACS, the sensitivity and specificity of this parameter towards ACS in various IL-10 serum levels were calculated as well.Results In this observational study, as many as 146 subjects were analyzed, consisting of 84 ACS patients, and 62 coronary artery disease (CAD. The IL-10 level was higher in the group of ACS patients (7.37 pg/mL + 7.81, CI 95% 5.68-9.07 than that in CAD patients (1.59 pg/mL + 1.55, CI 95% 1.2-1.98. The optimal cut-off point for serum IL-10level is >1.95 pg/mL, with 79.76 % sensitivity and 77.42 % specificity.Conclusion The IL-10 level was higher in the ACS patients compared to that in CAD patients. Serum IL-10 measurement is a quite superior method to distinguish acute and stable condition, eventhough it is not as good as hsCRP for the same purpose. (Med J Indones 2009;18:165-9Key words: Interleukin-10, acute coronary syndrome

  13. Mitral valve surgery in the adult Marfan syndrome patient.

    Science.gov (United States)

    Bhudia, Sunil K; Troughton, Richard; Lam, Buu-Khanh; Rajeswaran, Jeevanantham; Mills, William R; Gillinov, A Marc; Griffin, Brian P; Blackstone, Eugene H; Lytle, Bruce W; Svensson, Lars G

    2006-03-01

    Because mitral valve dysfunction in adults with Marfan syndrome is poorly characterized, this study compares mitral valve pathophysiology and morphology with that of myxomatous mitral disease, documents types of mitral valve operations, and assesses long-term survival and durability of mitral valve surgery in Marfan patients. From May 1975 to June 2000, 27 adults with Marfan syndrome underwent mitral valve surgery. Their valve pathophysiology and morphology was compared with that of 119 patients with myxomatous mitral disease undergoing surgery from September 1995 to March 1999. Survival and repair durability were assessed at follow-up. Compared with myxomatous disease patients, Marfan patients had less posterior leaflet prolapse (44% versus 70%, p = 0.01), more bileaflet (44% versus 28%, p = 0.09) and anterior leaflet prolapse (11% versus 3%, p = 0.07), and presented earlier for surgery (age 41 +/- 12 years versus 57 +/- 13, p Marfan patients had longer and thinner leaflets. Mitral valve repair was performed less frequently in Marfan (16 of 27, 59%) than myxomatous disease patients (112 of 119, 94%). There were no hospital deaths; at 10 years, survival was 80% and freedom from reoperation 96%, with only 1 reoperation among the 16 repairs. Mitral valve pathophysiology and morphology differ between Marfan and myxomatous mitral valve diseases. Valve repair in Marfan patients is durable and gives acceptable long-term results, even in adults who present with advanced mitral valve pathology. With increasing use of the modified David reimplantation operation and sparing of the aortic valve, mitral valve repair is a greater imperative, particularly since we have not had to reoperate on any Marfan patients with reimplantations.

  14. Five personality dimensions in patients with irritable bowel syndrome

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    Alireza Farnam

    2008-08-01

    Full Text Available Alireza Farnam, Mohammad H Somi, Firouz Sarami, Sara FarhangLiver and Gastrointestinal Diseases Research Center, Tabriz University of Medical Sciences, Tabriz, IranAim: Irritable bowel syndrome (IBS as a functional disorder of the gastrointestinal tract has been related to psychological factors. Aim of this study is to study the differences of personality factors between IBS patients compared to our general population.Methods: This study was performed in clinics of Tabriz Medical University during 2006–2007. IBS was diagnosed using the Rome II diagnostic criteria after exclusion of organic bowel pathology. The entry of each patient was confirmed following a psychiatric interview and after any comorbid psychiatry disorder was ruled out. Personality traits and score of each factor was evaluated using NEO five factor personality inventory compared to results of a previous study on general population of Iran.Results: One hundred and sixty six patients were studied. The mean age (±SD of them was 33.6(±11.4 years (60.8% female. Our study population had their symptoms for a mean interval of 47.3 month. The bowel problems were provoked by distress in more than 80% of patients. Pain in female patients was reported to be more frequent but both gender described the association between stressors and their symptoms. NEO Five-Factor Inventory showed a significantly higher level of neuroticism and conscientiousness and lower level of openness and agreeableness in theses nonpsychiatric IBS patients. Women with IBS had significantly higher levels of openness, conscientiousness, and extraversion compared to men.Conclusion: Differences were observed between IBS patients and general population. Patients with IBS may benefit from psychological interventions.Keywords: irritable bowel syndrome, personality, five-factor model

  15. Distinctive personality profiles of fibromyalgia and chronic fatigue syndrome patients

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    Jacob N. Ablin

    2016-09-01

    Full Text Available Objective The current study is an innovative exploratory investigation, aiming at identifying differences in personality profiles within Fibromyalgia Syndrome (FMS and Chronic Fatigue Syndrome (CFS patients. Method In total, 344 participants (309 female, 35 male reported suffering from FMS and/or CFS and consented to participate in the study. Participants were recruited at an Israeli FM/CFS patient meeting held in May 2013, and through an announcement posted on several social networks. Participants were asked to complete a research questionnaire, which included FMS criteria and severity scales, and measures of personality, emotional functioning, positivity, social support and subjective assessment of general health. In total, 204 participants completed the research questionnaire (40.7% attrition rate. Results A cluster analysis produced two distinct clusters, which differed significantly on psychological variables, but did not differ on demographic variables or illness severity. As compared to cluster number 2 (N = 107, participants classified into cluster number 1 (N = 97 showed a less adaptive pattern, with higher levels of Harm Avoidance and Alexithymia; higher prevalence of Type D personality; and lower levels of Persistence (PS, Reward dependence (RD, Cooperation, Self-directedness (SD, social support and positivity. Conclusion The significant pattern of results indicates at least two distinct personality profiles of FM and CFS patients. Findings from this research may help improve the evaluation and treatment of FM and CFS patients, based on each patient’s unique needs, psychological resources and weaknesses, as proposed by the current trend of personalized medicine.

  16. Helicobacter pylori infection in patients with acquired immune deficiency syndrome.

    Science.gov (United States)

    Battan, R; Raviglione, M C; Palagiano, A; Boyle, J F; Sabatini, M T; Sayad, K; Ottaviano, L J

    1990-12-01

    A controlled study was conducted on patients with human immunodeficiency virus (HIV) infection referred for upper endoscopy to evaluate the prevalence of Helicobacter pylori (H. pylori) infection. Four different stains and culture for H. pylori were performed on biopsy specimens from the gastric antrum. Sixteen (40%) of 40 patients with acquired immune deficiency syndrome (AIDS) or AIDS-related complex (ARC) were diagnosed to be infected with H. pylori versus 14 (39%) of 36 age-matched control patients. Eight of 15 AIDS/ARC patients without AIDS-related esophagogastroduodenal findings (53%) were infected with H. pylori versus 8/25 (32%) with endoscopic findings typical of AIDS. No invasion of the lamina propria by H. pylori was noted in any patient. Active chronic gastritis was present in 60% of AIDS/ARC patients and 61% of controls. Fifty-eight and 59%, respectively, of active chronic gastritis cases were infected with H. pylori. All the H. pylori infections, except one, were found in patients with chronic gastritis. In AIDS/ARC patients, H. pylori infection and active chronic gastritis are as common as in other patients referred for upper endoscopy. They may play a pathogenic role, especially when endoscopic AIDS-related findings are lacking. Cell-mediated immune deficiency does not appear to increase the risk of infection with H. pylori.

  17. Bilateral Ramsay Hunt syndrome in a diabetic patient

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    Goyal Amit

    2004-12-01

    Full Text Available Abstract Background Herpes zoster oticus accounts for about 10% cases of facial palsy, which is usually unilateral and complete and full recovery occurs in only about 20% of untreated patients. Bilateral herpes zoster oticus can sometime occur in immunocompromised patients, though incidence is very rare. Case presentation Diabetic male, 57 year old presented to us with bilateral facial palsy due to herpes zoster oticus. Patient was having bilateral mild to moderate sensorineural hearing loss. Patient was treated with appropriate metabolic control, anti-inflammatory drugs and intravenous acyclovir. Due to uncontrolled diabetes, glucocorticoids were not used in this patient. Significant improvement in hearing status and facial nerve functions were seen in this patient. Conclusions Herpes zoster causes severe infections in diabetic patients and can be a cause of bilateral facial palsy and bilateral Ramsay Hunt syndrome. Herpes zoster in diabetic patients should be treated with appropriate metabolic control, NSAIDS and intravenous acyclovir, which we feel should be started at the earliest. Glucocorticoids should be avoided in diabetic patients.

  18. A rare combination of findings revealed by MR imaging in the Marfan syndrome

    International Nuclear Information System (INIS)

    Kleimaker, G.; Ehrenheim C.; Rittierodt, M.; Jaster, S.; Hundeshagen, H.

    1996-01-01

    We report on the case of a 16-year-old boy known to have suffered form the Marfan syndrome for the past ten years. Even though he could not be regarded as a text-book perfect example, he showed some rare manifestations of the disease. Particular attention is given to the diagnostic possibilities offered by MR imaging. (orig./MG) [de

  19. Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis.

    NARCIS (Netherlands)

    Hynes, A.M.; Giles, R.H.; Srivastava, S.K.; Eley, L.; Whitehead, J.; Danilenko, M.; Raman, S.; Slaats, G.G.G.; Colville, J.G.; Ajzenberg, H.; Kroes, H.Y.; Thelwall, P.E.; Simmons, N.L.; Miles, C.G.; Sayer, J.A.

    2014-01-01

    Nephronophthisis (NPHP) is the major cause of pediatric renal failure, yet the disease remains poorly understood, partly due to the lack of appropriate animal models. Joubert syndrome (JBTS) is an inherited ciliopathy giving rise to NPHP with cerebellar vermis aplasia and retinal degeneration. Among

  20. Homozygous c.1160C>T (P38L) in the MECP2 gene in a female Rett syndrome patient.

    Science.gov (United States)

    Bhanushali, Aparna A; Mandsaurwala, A; Das, Bibhu R

    2016-03-01

    Rett syndrome is a severe X-linked dominant neurodevelopmental disorder. Mutations in the MECP2 gene on chromosome Xq28 have been shown to be the cause of Rett syndrome. Sequencing of the MECP2 gene in a patient with clinical suspicion of Rett syndrome revealed c.1160C>T (P387L) in exon 4 of the MECP2 gene homozygously. Females with Rett syndrome are usually heterozygous for a mutation in MECP2. Uniparental disomy as a probable cause for the homozygous presence of this mutation was ruled out by quantitative fluorescence-polymerase chain reaction. Moreover to our knowledge this mutation has only been reported in males with X-linked mental retardation (MRX). We hypothesize that the presence of this mutation c.1160C>T (P387L) in the homozygous form is responsible for the Rett syndrome-like phenotype seen in this patient. This novel report reveals for the first time the homozygous presence of a mutation which has hitherto only been reported in males with MRX. Copyright © 2015 Elsevier Ltd. All rights reserved.

  1. Risk of Intestinal Malignancy in Patients With Short Bowel Syndrome.

    Science.gov (United States)

    Thompson, Jon S; Weseman, Rebecca A; Mercer, David F; Rochling, Fedja A; Vargas, Luciano M; Grant, Wendy J; Langnas, Alan N

    2017-05-01

    Postresection intestinal adaptation is an augmented self-renewal process that might increase the risk of malignant transformation in the intestine. Furthermore, patients with short bowel syndrome (SBS) have other characteristics that might increase this risk. Our aim was to determine the incidence of new intestinal malignancy in SBS patients. We reviewed the records of 500 adult SBS patients identified from 1982-2013. There were 199 men and 301 women ranging in age from 19-91 years. Follow-up from the time of diagnosis of SBS ranged from 12-484 months. A total of 186 (37%) patients were followed >5 years. The cause of SBS was postoperative in 35% of patients, malignancy/radiation in 19%, mesenteric vascular disease in 17%, Crohn's disease in 16%, and other in 13%. Twenty-eight (6%) patients received growth stimulatory medications. Fifteen percent of patients had a prior total colectomy. Twenty-eight (6%) patients underwent intestinal transplantation, and 115 (23%) patients had a previous abdominal malignancy, including colorectal cancer in 43 patients. Thirty-six (7%) received radiation therapy. Recurrent colon cancer was found in 2 patients, one at a stoma and the other with lung metastases. New colon cancer was found in 1 patient (0.2%), a 62-year-old woman with long-standing Crohn's disease. The incidence of colon cancer in this heterogenous group of patients with SBS was similar to that of the normal population. This suggests that the risk of developing a new colon cancer in patients with SBS is not increased.

  2. Oropharyngeal Dysphagia in patients with obstructive sleep apnea syndrome.

    Science.gov (United States)

    Schindler, Antonio; Mozzanica, Francesco; Sonzini, Giulia; Plebani, Daniela; Urbani, Emanuele; Pecis, Marica; Montano, Nicola

    2014-02-01

    Although previous studies demonstrated that patients with obstructive sleep apnea syndrome (OSAS) may present subclinical manifestations of dysphagia, in not one were different textures and volumes systematically studied. The aim of this study was to analyze the signs and symptoms of oropharyngeal dysphagia using fiberoptic endoscopic evaluation of swallowing (FEES) with boluses of different textures and volumes in a large cohort of patients with OSAS. A total of 72 OSAS patients without symptoms of dysphagia were enrolled. The cohort was divided in two groups: 30 patients with moderate OSAS and 42 patients with severe OSAS. Each patient underwent a FEES examination using 5, 10 and 20 ml of liquids and semisolids, and solids. Spillage, penetration, aspiration, retention, and piecemeal deglutition were considered. The penetration-aspiration scale (PAS), pooling score (PS), and dysphagia outcome and severity scale (DOSS) were used for quantitative analysis. Each patient completed the SWAL-QOL questionnaire. Forty-six patients (64 %) presented spillage, 20 (28 %) piecemeal deglutition, 26 (36 %) penetration, and 30 (44 %) retention. No differences were found in the PAS, PS, and DOSS scores between patients with moderate and severe OSAS. Patients with severe OSAS scored higher General Burden and Food selection subscales of the SWAL-QOL. Depending on the DOSS score, the cohort of patients was divided into those with and those without signs of dysphagia. Patients with signs of dysphagia scored lower in the General Burden and Symptoms subscales of the SWAL-QOL. OSAS patients show signs of swallowing impairment in about half of the population; clinicians involved in the management of these patients should include questions on swallowing when taking the medical history.

  3. Interventional prevention of ovarian hyperstimulation syndrome in infertility patients with polycystic ovaries syndrome

    International Nuclear Information System (INIS)

    Liang Weixiang; Chen Zhiyi; Yuan Wenlin; Chen Xia; Cai Kuan; Wang Weiqun; Zhu Junlin

    2008-01-01

    Objective: To assess the efficacy of aspiration of small follicles(ASF) guided by trans-vaginal ultra- sound (TVS) in preventing moderate and severe ovarian hyperstimulation syndrome (OHSS) in women with polycystic ovaries syndrome (PCOS). Methods: ASF was undertaken by trans-vaginally during artificial cycles in 25 women with PCOS who had early signs of OHSS during the early period of the cycle according to the ovaries and follicles detected by TVS. Small follicles(≤ 12 mm in diameter) were aspirated at the early period of gonadotropin therapy according to the follicle testing, three or less excellent follicles were reserve. All the patients were followed up for symptoms and signs of OHSS. Results: None of the patients developed moderate or severe OHSS. Successful intrauterine pregnancy were found in 7 cases (28%). Conclusion: ASF after gonadotropin injections is of significance to prevent moderate and severe OHSS and obtain a higher pregnancy rate in susceptible patients with PCOS during the early period of the cycles. Time of ASF is the main factor to prevent OHSS. TVS may be an important tool in the detection of early period of follicles development. (authors)

  4. Non-syndrome patient with bilateral supernumerary teeth: Case report and 9-year follow-up.

    Science.gov (United States)

    Akgun, Ozlem Marti; Sabuncuoglu, Fidan; Altug, Ayberk; Altun, Ceyhan

    2013-01-01

    The presence of supernumerary teeth, also known as hyperdontia, is the condition of having teeth in addition to the regular number of teeth. The occurrence of multiple supernumerary teeth is often found in association with syndromes such as Gardner syndrome, Anderson-Fabry disease, Ellis-van Creveld syndrome, Ehlers-Danlos syndrome, incontinentia pigmenti, and Tricho-rhino-phalangeal syndrome. Only a few examples of nonsyndromic multiple supernumerary teeth have been reported in literature. In this report, we present the unusual case and 9-year follow up of a non-syndrome female patient with bilateral supernumerary teeth that occurred with an interval of several years.

  5. Corticosteroids therapy and peptic ulcer disease in nephrotic syndrome patients

    Science.gov (United States)

    Hsiang, Kuo-Wei; Ng, Yee-Yung; Lu, Ching-Liang; Chen, Tseng-Shing; Lin, Hsiao-Yi; Luo, Jiing-Chyuan; Wu, Jia-Min; Lin, Han-Chieh; Chang, Full-Young; Lee, Shou-Dong

    2010-01-01

    AIMS Whether corticosteroids induce peptic ulcer disease (PUD) remains uncertain. The study evaluated and compared the occurrence of PUD between nephrotic patients receiving oral prednisolone therapy and nephritic patients without steroid therapy. METHODS The prospective case control study compared 60 nephrotic syndrome patients who received 60 mg daily prednisolone therapy for 3 months with 30 age-and sex-matched nephritic patients without steroid therapy. Each patient underwent endoscopic examination and tissue and blood sampling before and after the study. Examined parameters included Helicobacter pylori (H. pylori) infection, and gastric and serum prostaglandin (PG) E2 and thromboxane (TX) B2 concentrations. The primary endpoint was the occurrence of endoscopic peptic ulcers between the two groups, while the secondary end point was the occurrence of ulcer complications. RESULTS The two groups were comparable in sex, age, smoking habits, alcohol drinking, past history of PUD, H. pylori infection rate and serum creatinine. There were no differences in the occurrence of endoscopic peptic ulcers (1.6% vs. 3.3%) and ulcer complications (0% vs. 0%), pre-therapy gastric PGE2, and pre- and post-therapy gastric TXB2, serum PGE2 and serum TXB2 between the two groups. However, there was significantly lower post-therapy gastric PGE2 concentrations in the prednisolone group. CONCLUSIONS Three-month therapy with 60 mg daily prednisolone caused few endoscopic ulcers (1.6%) and no ulcer complications in nephrotic patients. Corticosteroids therapy did not increase PUD in nephrotic syndrome patients [odds ratio 0.492 with 95% confidence interval (CI) 0.03, 8.142, P= 0.620]. Further larger studies are needed to clarify the role of corticosteroids in PUD.

  6. Anthropometric Indicators Predict Metabolic Syndrome Diagnosis in Maintenance Hemodialysis Patients.

    Science.gov (United States)

    Vogt, Barbara Perez; Ponce, Daniela; Caramori, Jacqueline Costa Teixeira

    2016-06-01

    Obesity has been considered the key in metabolic syndrome (MetS) development, and fat accumulation may be responsible for the occurrence of metabolic abnormalities in hemodialysis patients. The use of gold-standard methods to evaluate obesity is limited, and anthropometric measures may be the simplest methods. However, no study has investigated the association between anthropometric indexes and MetS in these patients. Therefore, the aim was to determine which anthropometric indexes had the best association and prediction for MetS in patients undergoing hemodialysis. Cross-sectional study that included patients older than 18 years, undergoing hemodialysis for at least 3 months. Patients with liver disease and cancer or those receiving corticosteroids or antiretroviral therapy were excluded. Diagnostic criteria from Harmonizing Metabolic Syndrome were used for the diagnosis of MetS. Anthropometric indexes evaluated were body mass index (BMI); percent standard of triceps skinfold thickness and of middle arm muscle circumference; waist circumference (WC); sagittal abdominal diameter; neck circumference; waist-to-hip, waist-to-thigh, and waist-to-height ratios; sagittal index; conicity index; and body fat percentage. Ninety-eight patients were included, 54.1% male, and mean age was 57.8 ± 12.9 years. The prevalence of MetS was 74.5%. Individuals with MetS had increased accumulation of abdominal fat and general obesity. Waist-to-height ratio was the variable independently associated with MetS diagnosis (odds ratio, 1.21; 95% confidence interval, 1.09-1.34; P < .01) and that better predicts MetS, followed by WC and BMI (area under the curve of 0.840, 0.836, and 0.798, respectively, P < .01). Waist-to-height ratio was the best anthropometric predictor of MetS in maintenance hemodialysis patients. © 2015 American Society for Parenteral and Enteral Nutrition.

  7. Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel

    DEFF Research Database (Denmark)

    Rehman, Shoaib ur; Baig, Shahid Mahmood; Eiberg, Hans

    2011-01-01

    Autosomal recessive inherited mental retardation is an extremely heterogeneous disease and accounts for approximately 25% of all non-syndromic mental retardation cases. Autozygosity mapping of a large consanguineous Pakistani family revealed a novel locus for non-syndromic autosomal recessive men...

  8. Cowdens syndrom diagnosticeret hos patienter med store hoveder, falske vorter og struma

    DEFF Research Database (Denmark)

    Skytte, Anne-Bine; Bojesen, Anders; Bygum, Anette

    2014-01-01

    Cowden syndrome is a rare autosomal dominant syndrome with a predisposition to cancer. We present a case of Cowden syndrome in a mother and her son, who were diagnosed with palmoplantar hyperkeratosis, macrocephaly and goitre. Early diagnosis is a challenge as the patients present with a variety...

  9. Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome.

    Science.gov (United States)

    Hei, Mingyan; Gao, Xiangyu; Wu, Lingqian

    2018-02-16

    Cornelia de Lange syndrome (CdLS) is a rare congenital syndrome with no racial difference. The objective of this study is to report the clinical characteristics and genetic study of 20 CdLS cases from China. This is an observational study. Suspected patients were referred for further confirmation, clinical treatment, and genetic testing under voluntary condition. Demographic data and family history, data of clinical manifestations including facial dysmorphism and developmental delay of each patient were collected. Chromosomal analysis and NIPBL/SMC1A/SMC3 gene mutational analysis were carried out by PCR, reverse transcription PCR direct sequencing in the probands, and SNP array to detect the genome-wide copy number variations. Twenty CdLS cases from China were included in this study. Facial dysmorphisms, feeding difficulties, and developmental delay were the major clinical manifestations. Seven patients underwent gene mutation tests. Both the SMC1A and SMC3 gene mutation tests were negative in all. A heterozygous mutation in exon 20 of the NIPBL gene in proband 2, and a heterozygous mutation in intron 38 of the NIPBL gene in proband 3 were found in 1 patient, and RT-PCR revealed a splicing mutation in exon 38, generating both normal transcript and an aberrant alternatively spliced transcript with exon 38 deletion. Clinical manifestations of CdLS patients from China are similar to those in the other countries. Heterozygous mutations of NIPBL gene were found.

  10. Primary diagnosis of Wolfram syndrome in an adult patient--case report and description of a novel pathogenic mutation.

    Science.gov (United States)

    Waschbisch, Anne; Volbers, Bastian; Struffert, Tobias; Hoyer, Juliane; Schwab, Stefan; Bardutzky, Juergen

    2011-01-15

    Wolfram syndrome is a rare, autosomal recessive, neurodegenerative disorder presenting with the main clinical symptoms of childhood-onset diabetes mellitus, optic atrophy, diabetes insipidus and deafness (DIDMOAD). Later stages of the disease are dominated by neurological complications and death occurs early in life with a median life expectancy of 30 years. Here we present a 44 year old patient who presented to our hospital with central respiratory failure, cognitive impairment, ataxia and parkinsonism and was first diagnosed with Wolfram syndrome. DNA sequence analysis revealed a novel pathogenic mutation within the WFS1 gene. Advanced clinical and imaging studies performed in this patient highlight the neurodegenerative process in Wolfram syndrome and expand our knowledge on the mutational spectrum of the disease. Copyright © 2010 Elsevier B.V. All rights reserved.

  11. Investigation of the Matrix Metalloproteinase-2 Gene in Patients with Non-Syndromic Mitral Valve Prolapse

    Directory of Open Access Journals (Sweden)

    Maëlle Perrocheau

    2015-07-01

    Full Text Available Non-syndromic mitral valve prolapse (MVP is a common degenerative valvulopathy, predisposing to arrhythmia and sudden death. The etiology of MVP is suspected to be under genetic control, as supported by familial cases and its manifestation in genetic syndrome (e.g., Marfan syndrome. One candidate etiological mechanism is a perturbation of the extracellular matrix (ECM remodeling of the valve. To test this hypothesis, we assessed the role of genetic variants in the matrix metalloproteinase 2 gene (MMP2 known to regulate the ECM turnover by direct degradation of proteins and for which transgenic mice develop MVP. Direct sequencing of exons of MMP2 in 47 unrelated patients and segregation analyses in families did not reveal any causative mutation. We studied eight common single nucleotide polymorphisms (TagSNPs, which summarize the genetic information at the MMP2 locus. The association study in two case controls sets (NCases = 1073 and NControls = 1635 provided suggestive evidence for the association of rs1556888 located downstream MMP2 with the risk of MVP, especially in patients with the fibroelastic defiency form. Our study does not support the contribution of MMP2 rare variation in the etiology to MVP in humans, though further genetic and molecular investigation is required to confirm our current suggestive association of one common variant.

  12. Anaesthetic Management of a Patient with Pseudo-TORCH Syndrome

    Directory of Open Access Journals (Sweden)

    Derya Berk

    2013-09-01

    Full Text Available Background: Pseudo-TORCH syndrome is a rare, chronic disorder that is characterised by dimorphic features such as microcephaly, intracranial calcification, seizures, mental retardation, hepatosplenomegaly and coagulation disorders. Case Report: We present the anaesthetic management of a forty day-old boy with Pseudo-TORCH syndrome during magnetic resonance imaging. Microcephaly, growth failure, high palate and bilateral rales in the lungs were detected in pre-anaesthetic physical examination. The peripheral oxygen saturation was 88-89% in room-air and was 95% in a hood with 5 L/min oxygen. We planned general anaesthesia to ensure immobility during magnetic resonance imaging. After standard monitoring, general anaesthesia was induced with 8% sevoflurane in 100% O2. After an adequate depth of anaesthesia was reached, we inserted a supraglottic airway device to avoid intubation without the use of a muscle relaxant. Conclusion: In patients with Pseudo-TORCH syndrome, the perioperative anaesthetic risk was increased. We believe that using a supraglottic airway device to secure the airway is less invasive than intubation, and can be performed without the need of muscle relaxants.

  13. Anaesthetic Management of a Patient with Pseudo-TORCH Syndrome.

    Science.gov (United States)

    Berk, Derya; Kuş, Alparslan; Sahin, Tülay; Solak, Mine; Toker, Kamil

    2013-09-01

    Pseudo-TORCH syndrome is a rare, chronic disorder that is characterised by dimorphic features such as microcephaly, intracranial calcification, seizures, mental retardation, hepatosplenomegaly and coagulation disorders. We present the anaesthetic management of a forty day-old boy with Pseudo-TORCH syndrome during magnetic resonance imaging. Microcephaly, growth failure, high palate and bilateral rales in the lungs were detected in pre-anaesthetic physical examination. The peripheral oxygen saturation was 88-89% in room-air and was 95% in a hood with 5 L/min oxygen. We planned general anaesthesia to ensure immobility during magnetic resonance imaging. After standard monitoring, general anaesthesia was induced with 8% sevoflurane in 100% O2. After an adequate depth of anaesthesia was reached, we inserted a supraglottic airway device to avoid intubation without the use of a muscle relaxant. In patients with Pseudo-TORCH syndrome, the perioperative anaesthetic risk was increased. We believe that using a supraglottic airway device to secure the airway is less invasive than intubation, and can be performed without the need of muscle relaxants.

  14. The management of patients with polycystic ovary syndrome.

    Science.gov (United States)

    Jayasena, Channa N; Franks, Stephen

    2014-10-01

    Polycystic ovary syndrome (PCOS) is the most common endocrine disorder in women. The syndrome is typified by its heterogeneous presentation, which includes hirsutism (a function of hypersecretion of ovarian androgens), menstrual irregularity and infertility (that is due to infrequent or absent ovulation). Furthermore, PCOS predisposes patients to metabolic dysfunction and an increased risk of type 2 diabetes mellitus (T2DM). The aetiology of the syndrome has a major genetic component. Obesity exacerbates the insulin resistance that is a feature of PCOS in many women and amplifies the clinical and biochemical abnormalities. In clinical practice, the choice of investigations to be done depends mainly on the presenting symptoms. The approach to management is likewise dependent on the presenting complaint. Symptoms of androgen excess (hirsutism, acne and alopecia) require cosmetic measures, suppression of ovarian androgen function and anti-androgen therapy, alone or in combination. Ovulation rate is improved by diet and lifestyle intervention in overweight individuals but induction of ovulation by, in the first instance, anti-estrogens is usually required. Monitoring of glucose is important in overweight women and/or those with a family history of T2DM. Metformin is indicated for women with impaired glucose tolerance but whether this drug is otherwise useful in women with PCOS remains debatable.

  15. Restless leg syndrome in patients with spinal cord injury.

    Science.gov (United States)

    Kumru, Hatice; Vidal, Joan; Benito, Jesus; Barrio, Manuela; Portell, Enric; Valles, Margarita; Flores, Cecilia; Santamaria, Joan

    2015-12-01

    The presence of restless leg syndrome (RLS) in patients with spinal cord injury (SCI) is not well established. We studied the frequency and severity of RLS in a population of patients with SCI and the effect of treatment with dopaminergic drugs when clinically indicated. Consecutive patients with SCI admitted to an out-patient clinic of a neurorehabilitation hospital (n:195) were evaluated for the presence of RLS between February 2013 and May 2014. A diagnosis of RLS was made according to the criteria of the International RLS Study Group, and severity was assessed by the RLS rating scale. Information on gender, age, time since SCI, level and severity of SCI, was obtained. The mean age was 54.7 ± 15.6 years (range: 22-81 year); with time since SCI: 16.9 ± 11.4 years (range: 1-50 years). Thirty-five of 195 patients (17.9%) presented RLS. Twenty-two out of 154 (14.3%) patients with cervicothoracic SCI and 13 out of 41 (31.7%) patients with lumbosacral SCI presented RLS. Restless leg symptoms were mild in 2 patients, moderate in 10 patients, severe in 12 patients and very severe in 11. Ten patients received dopaminergic agonist treatment with a significant reduction in RLS severity scale from 29.1 ± 5.9 to 10.2 ± 7.9. RLS occurs frequently in SCI patients and responds to dopaminergic treatment. Physicians have to be aware of this diagnosis to avoid unnecessary suffering in this patient population. Copyright © 2015 Elsevier Ltd. All rights reserved.

  16. [Anesthesia for cesarean delivery in a patient with Klippel-Trenaunay syndrome].

    Science.gov (United States)

    Teixeira, Clara Elisa Frare de Avelar; Braga, Angélica de Fátima de Assunção; Braga, Franklin Sarmento da Silva; Carvalho, Vanessa Henriques; Costa, Rafael Miranda da; Brighenti, Giselle Ioná Teixeira

    2018-03-02

    Klippel-Trenaunay syndrome is a rare congenital vascular disease characterized by cutaneous hemangiomas, varicosities, and limb asymmetry, which may evolve with coagulation disorders and hemorrhage as more frequent complications in pregnant patients. Pregnancy is not advised in women with this syndrome due to increased obstetric risk. Female patient, 29 years old, 99kg, 167cm, BMI 35.4kg.m -2 , physical status ASA III, with 27 weeks of gestational age and diagnosis of Klippel-Trenaunay syndrome. She was admitted to attempt inhibition of preterm labor. As manifestations of Klippel-Trenaunay syndrome, the patient presented with cerebral and cutaneous hemangioma, mainly in the trunk and lumbar region, paresis in the left upper and lower limbs, and limb asymmetry, requiring the use of a walking stick. Physical examination revealed absence of airway vascular malformations and Mallampati class 3. Laboratory tests were normal and abdominal angiotomography showed irregular uterus, with multiple varices and vessels of arterial origin and bilateral periadnexal varices. She evolved with failure in preterm labor inhibition, and cesarean section under total intravenous anesthesia was indicated. Monitoring, central and peripheral venous access, radial artery catheterization, and diuresis were performed. Cesarean section was performed with median incision and longitudinal uterine body section for fetal extraction. Two episodes of arterial hypotension were seen intraoperatively. The postoperative evolution was uneventful. The choice of anesthesia was dependent on the clinical manifestations and the lack of imaging tests proving the absence of neuraxial hemangiomas. Copyright © 2018 Sociedade Brasileira de Anestesiologia. Publicado por Elsevier Editora Ltda. All rights reserved.

  17. Depression and demoralization as distinct syndromes: Preliminary data from a cohort of advanced cancer patients

    Directory of Open Access Journals (Sweden)

    Jacobsen Juliet

    2006-01-01

    Full Text Available The term demoralization has been used to describe existential distress and despair of patients with advanced disease. Aim: This study sought to determine whether a cluster of symptoms interpreted as demoralization could be identified and distinguished from a cluster of depressive symptoms. Materials and Methods: As part of the Coping with Cancer Study, a federally funded multi-site study of advanced cancer patients, 242 patients were interviewed on a broad range of mental health parameters related to depression, grief, quality of life, self-efficacy, coping and religiousness/spirituality. Results: A principal components analysis revealed separate depression and demoralization/despair factors. Seven symptoms constituted the demoralization/despair factor: loss of control, loss of hope, anger/bitterness, sense of failure, feeling life was a burden, loss of meaning and a belief that life′s meaning is dependent on health and were found to be internally consistent (Cronbach′s a = 0.78. Only 14.8% of subjects with "syndromal demoralization" met DSM-IV criteria for Major Depression (MDD; 7.4% for Minor Depression. Of those with MDD only 28.6% had syndromal level demoralization. Prior history of MDD predicted current MDD, but not syndromal demoralization. Demoralization, not MDD, was significantly associated with the patient′s reported level of inner peacefulness. When compared with MDD, syndromal demoralization was more strongly associated with wish to live and wish to die and equally predictive of mental health service use. Conclusion: The symptoms of demoralization are distinct from depressive symptoms and appear to be associated with the patient′s degree of inner peacefulness.

  18. Diagnostic indicators for blood stasis syndrome patients with gynaecological diseases.

    Science.gov (United States)

    Jung, Jeeyoun; Ko, Mi Mi; Lee, Myeong Soo; Lee, So Min; Lee, Ju Ah

    2017-06-20

    To investigate the important diagnostic indicators for blood stasis syndrome (BSS) in patients of childbearing age with gynaecological diseases. A partial least squared-discriminant analysis (PLS-DA) were applied to BSS symptoms data of patients with gynaecological diseases, and the diagnostic indicators used by doctors of Korean medicine (DKMs) among BSS patients with gynaecological diseases were also investigated. A total of 103 patients of childbearing age with gynaecological diseases and 40 healthy controls were enrolled. Among the 103 patients, 63 (61.7%) and 40 (38.8%) were diagnosed with BSS and non-BSS, respectively, and BSS patients exhibited a more severe extent of disease. A score plot of PLS-DA showed clearly different patterns among the 3 groups. Based on the variable importance on projection of PLS-DA model, menstrual pains, dark lumps in the menstrual blood, ileocoecal tenderness and resistance, sharp pains, and sublingual varicosities were selected as the top fifive most important indicators. Moreover, more than 75% of DKMs chose dark lumps in menstrual blood, menstrual pain, and dark menstrual blood as the diagnostic indicators of BSS in patients with gynaecological diseases, and more than 49% of them also considered sharp pains, dark red tongue, sublingual varicosities, and tendency to bruise easily as diagnostic indicators of BSS. DKMs focused on menstrual symptoms and certain gynaecological symptoms to diagnose BSS patients of childbearing age with female diseases.

  19. Psychosomatic symptom profiles in patients with restless legs syndrome.

    Science.gov (United States)

    Kim, Jung Bin; Koo, Yong Seo; Eun, Mi-Yeon; Park, Kun-Woo; Jung, Ki-Young

    2013-09-01

    It has been reported that restless legs syndrome (RLS) might be associated with multiple psychosomatic symptoms. We aimed to identify which psychosomatic symptom is the most related in RLS patients compared to healthy controls. We also attempted to determine the relation between psychosomatic comorbidity and RLS severity regardless of sleep-related symptoms. One hundred two newly diagnosed patients with RLS and 37 healthy control subjects participated in the present study. The RLS patients were categorized as mild and severe based on the International RLS Study Group rating scale. Data on demographics were collected. All participants completed the Pittsburgh Sleep Quality Index, Athens Insomnia Scale, and Epworth Sleepiness Scale as sleep-related questionnaires. All participants completed the Symptom Checklist-90-Revision (SCL-90-R). RLS patients were found to have pervasive comorbid psychosomatic symptoms. Somatization was found to be the most significant contributing factor (OR 1.145, 95 % CI 1.061-1.234, p psychosomatic comorbidity in RLS. Severe RLS patients were found to have poorer sleep quality than mild RLS patients. Furthermore, severe RLS patients had higher scores for most psychosomatic symptom domains in SCL-90-R. Anxiety was found to be the most independent contributing factor for psychosomatic comorbidity according to RLS severity (OR 1.145, 95 % CI 1.043-1.257, p = 0.005). Our study demonstrates that comorbid psychosomatic distress is considerable in patients with RLS. Furthermore, most psychosomatic comorbidity is increased with the RLS severity in association with poorer sleep quality.

  20. Clinical correlates of insomnia in patients with acute coronary syndrome.

    Science.gov (United States)

    Coryell, Virginia T; Ziegelstein, Roy C; Hirt, Kellie; Quain, Angela; Marine, Joseph E; Smith, Michael T

    2013-01-01

    This study sought to examine the prevalence of insomnia and its association with depression, anxiety, and medical comorbidities in patients after an acute coronary syndrome (ACS). Insomnia increases risk of recurrent cardiac events in ACS patients, but little is known about the prevalence and clinical correlates of insomnia in this setting. Patients (n = 102, 58.3 ± 10.6 years-old) admitted for ACS to a cardiology service at an urban academic medical center completed the Insomnia Severity Index, Epworth Sleepiness Scale, and measures of depression and anxiety. A subset (n = 20) completed ambulatory polysomnography (PSG) in their homes several weeks after discharge. Moderate or severe insomnia was reported by 37% of patients during hospitalization and was associated with 76 minutes more wake after sleep onset measured by home PSG. Although depression and insomnia were strongly associated, about 1 in 4 patients with insomnia did not report significant depressive symptoms. Sleep apnea was documented in 80% of patients on PSG, but insomnia was not associated with sleep apnea, periodic limb movements, demographic factors, or medical conditions other than liver disease. Insomnia is present in over one-third of ACS patients during hospitalization, but at-risk patients could not be readily identified by demographic or medical factors or by depression symptoms.

  1. Fibrillin levels in a severely affected Marfan syndrome patient with a null allele

    Energy Technology Data Exchange (ETDEWEB)

    Boxer, M.; Withers, A.P.; Al-Ghaban, Z. [Univ. of Wales, Cardiff (United Kingdom)]|[Ninewells Hospital and Medical School, Dundee (United Kingdom)] [and others

    1994-09-01

    Marfan syndrome is an autosomal dominantly inherited connective tissue disorder characterized by defects in the cardiovascular, skeletal and ocular systems. A patient was first examined in 1992 having survived an acute sortic dissection with subsequent composite repair and insertion of a prosthetic aortic valve. Clinical examination revealed arachnodactyly, narrow, high arched palate with dental crowding, an arm span exceeding her height by 10.5 cm, joint laxity and bilateral lens subluxation. Analysis of the family showed affected members in three generations and the fibrillin gene, FBN1, was shown to segregate with the disease when using polymorphic markers including an RsaI polymorphism in the 3{prime}-untranslated region of the gene. Analysis of patient mRNA for this RsaI polymorphism by RT-PCR (reverse transcriptase-PCR) amplification and restriction enzyme digestion of the PCR products showed that the copy of the gene segregating with the disease was not transcribed. No low level expression of this allele was observed despite RT-PCR amplification incorporating radioactively labelled dCTP, thus revealing a null allele phenotype. Western blotting analysis of fibrillin secreted by the patient`s dermal fibroblasts using fibrillin-specific antibodies showed only normal sized fibrillin protein. However, immunohistochemical studies of the patient`s tissue and fibroblasts showed markedly lowered levels in staining of microfibrillar structures compared with age-matched controls. This low level of expression of the protein affected in Marfan syndrome in a patient with such severe clinical manifestations is surprising since current understanding would suggest that this molecular phenotype should lead to a mild clinical disorder.

  2. Hypereosinophilic syndrome: Clinical, laboratory, and imaging manifestations in patients with hepatic involvement

    International Nuclear Information System (INIS)

    Kim, Gi Beom; Lee, Jong Min; Sung, Yeong Soon; Kang, Duk Sik; Kim, Ok Hwoa

    1993-01-01

    The hypereosinophilic syndrome (HES) commonly involves liver and spleen but only a few literature has reported the imaging features. In this article, we present the imaging features of the liver and spleen in HES patients together with clinical and laboratory features. This study included 5 HES patients with hepatic involvement. Extensive laboratory tests including multiple hematologic, serologic, parasitological, and immunologic examinations were performed. Imaging studies included CT, ultrasound (US)of upper abdomen and hepatosplenic scintigraphy. All patients were periodically examined by laboratory and imaging studies for 4 to 24 months. The common clinical presentations were weakness, mild fever, and dry cough. All patients revealed leukocytosis with eosinophilia of 40 to 80% and benign eosinophilic hyperplasia of the bone marrow. The percutaneous biopsy of the hepatic focal lesions performed in 2 patients showed numerous benigin eosinophilic infiltrates and one of them revealed combined calibration necrosis of hepatocytes. All cases revealed hepatomegaly with multiple focal lesions on at least on of CT, US, or scintigraphy. These findings completely disappeared in 2 to 6 months following medication of corticosteroid or antihistamines. The HES involved the liver and CT, US, or scintigraphic studies showed hepatic multifocal lesions with hepatomegaly. Differential diagnosis of these findings should include metastatic disease, lymphoma, leukemia, candidiasis or other opportunistic infections

  3. Hypereosinophilic syndrome: Clinical, laboratory, and imaging manifestations in patients with hepatic involvement

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Gi Beom; Lee, Jong Min; Sung, Yeong Soon; Kang, Duk Sik [Kyungpook Natioanl University College of Medicine, Daegu (Korea, Republic of); Kim, Ok Hwoa [Dongkang general Hospital, Ulsan (Korea, Republic of)

    1993-07-15

    The hypereosinophilic syndrome (HES) commonly involves liver and spleen but only a few literature has reported the imaging features. In this article, we present the imaging features of the liver and spleen in HES patients together with clinical and laboratory features. This study included 5 HES patients with hepatic involvement. Extensive laboratory tests including multiple hematologic, serologic, parasitological, and immunologic examinations were performed. Imaging studies included CT, ultrasound (US)of upper abdomen and hepatosplenic scintigraphy. All patients were periodically examined by laboratory and imaging studies for 4 to 24 months. The common clinical presentations were weakness, mild fever, and dry cough. All patients revealed leukocytosis with eosinophilia of 40 to 80% and benign eosinophilic hyperplasia of the bone marrow. The percutaneous biopsy of the hepatic focal lesions performed in 2 patients showed numerous benigin eosinophilic infiltrates and one of them revealed combined calibration necrosis of hepatocytes. All cases revealed hepatomegaly with multiple focal lesions on at least on of CT, US, or scintigraphy. These findings completely disappeared in 2 to 6 months following medication of corticosteroid or antihistamines. The HES involved the liver and CT, US, or scintigraphic studies showed hepatic multifocal lesions with hepatomegaly. Differential diagnosis of these findings should include metastatic disease, lymphoma, leukemia, candidiasis or other opportunistic infections.

  4. Is synaesthesia more common in patients with Asperger syndrome?

    Directory of Open Access Journals (Sweden)

    Janina eNeufeld

    2013-12-01

    Full Text Available There is increasing evidence from case reports that synaesthesia is more common in individuals with autism spectrum conditions (ASC. Further, genes related to synaesthesia have also been found to be linked to ASC and, similar to synaesthetes, individuals with ASC show altered brain connectivity and unusual brain activation during sensory processing. However, up to now a systematic investigation of whether synaesthesia is more common in ASC patients is missing.The aim of the current pilot study was to test this hypothesis by investigating a group of patients diagnosed with Asperger Syndrome (AS using questionnaires and standard consistency tests in order to classify them as grapheme-colour synaesthetes. The results indicate that there are indeed many more grapheme-colour synaesthetes among AS patients. This finding is discussed in relation to different theories regarding the development of synaesthesia as well as altered sensory processing in autism.

  5. Cephalohematoma in a Patient with Ehlers-Danlos Syndrome

    Directory of Open Access Journals (Sweden)

    Brent M Felton

    2013-09-01

    Full Text Available Ehlers-Danlos syndrome is a rarely encountered connective tissue disorder characterized by skin hyper-elasticity, joint hyper-flexibility, and vasculature fragility. We report a 41-year-old female presenting with scalp swelling following minor head trauma. The patient presented with a large cephalohematoma that despite compressive measures and Factor IX administration continued to progress, necessitating transfer for definitive surgical intervention. The patient underwent surgical evacuation of approximately 1 liter of blood, followed by drain placement and compression dressing. This case underscores the importance for emergency physicians to recognize the potential vascular catastrophes these patients may present with following even minor injury. [West J Emerg Med. 2013;14(5:419-420.

  6. Is synesthesia more common in patients with Asperger syndrome?

    Science.gov (United States)

    Neufeld, Janina; Roy, Mandy; Zapf, Antonia; Sinke, Christopher; Emrich, Hinderk M; Prox-Vagedes, Vanessa; Dillo, Wolfgang; Zedler, Markus

    2013-01-01

    There is increasing evidence from case reports that synesthesia is more common in individuals with autism spectrum conditions (ASC). Further, genes related to synesthesia have also been found to be linked to ASC and, similar to synaesthetes, individuals with ASC show altered brain connectivity and unusual brain activation during sensory processing. However, up to now a systematic investigation of whether synesthesia is more common in ASC patients is missing. The aim of the current pilot study was to test this hypothesis by investigating a group of patients diagnosed with Asperger Syndrome (AS) using questionnaires and standard consistency tests in order to classify them as grapheme-color synaesthetes. The results indicate that there are indeed many more grapheme-color synaesthetes among AS patients. This finding is discussed in relation to different theories regarding the development of synesthesia as well as altered sensory processing in autism.

  7. Nonthyroidal illness syndrome: evaluation of thyroid function in sick patients.

    Science.gov (United States)

    Langton, Joanne E; Brent, Gregory A

    2002-03-01

    Altered thyroid function tests as a consequence of illness have been recognized for many years, yet the cause and clinical implications remains uncertain. The routine testing of thyroid function in hospitalized patients should be discouraged, as the results are less predictive of primary thyroid disease than in ambulatory patients. Clinicians should be aware of the methods used for thyroid function testing, as the effect of illness on thyroid function varies among the different tests. The most commonly used free T4 assays likely are influenced significantly by nonthyroidal illness. Advances in understanding the basic mechanisms of thyroid hormone metabolism and thyroid hormone action have given insights into the changes in thyroid function tests as a consequence of nonthyroidal illness. In the future, thyroid hormone receptor isoform-specific agonists and antagonists may allow for more specific treatment of select patients with nonthyroidal illness syndrome.

  8. General anesthesia in patients with syndrome of Poland.

    Science.gov (United States)

    Díaz-Crespo, J; Vázquez-Mambrilla, Y; García-Herrera, F

    2017-02-01

    The increased use of surgery as a treatment or as an alternative for improvement means that we have a larger number of patients in the operating theatre, including those who suffer from rare diseases. Poland Syndrome is a rare congenital disease associated with muscle development. These patients may have a broad spectrum of abnormalities, which include thoracic anomalies, which can alter the ventilatory management at the level of the airway; the possible onset of malignant hyperthermia. This leads the anaesthetist to take certain preventive measures. We report the case of a patient with Poland syndrome operated for the placement of a breast prosthesis. We avoid halogenated agents, and use a Total Intravenous Anaesthesia with propofol. The appearance of muscle spasms as a result of the use of propofol, forced us into a second anaesthesia to perform total intravenous anaesthesia with Midazolam. Copyright © 2016 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Publicado por Elsevier España, S.L.U. All rights reserved.

  9. Management of Diabetes Mellitus in Patients with Acquired Immunodeficiency Syndrome

    Directory of Open Access Journals (Sweden)

    Miulescu Rucsandra Dănciulescu

    2014-06-01

    Full Text Available Acquired immunodeficiency syndrome (AIDS is a human immune system disease characterized by increased susceptibility to opportunistic infections, certain cancers and neurological disorders. The syndrome is caused by the human immunodeficiency virus (HIV that is transmitted through blood or blood products, sexual contact or contaminated hypodermic needles. Antiretroviral treatment reduces the mortality and the morbidity of HIV infection but is increasingly reported to be associated with increasing reports of metabolic abnormalities. The prevalence and incidence of diabetes mellitus in patients on antiretroviral therapy is high. Recently, a joint panel of American Diabetes Association (ADA and European Association for the Study of Diabetes (EASD experts updated the treatment recommendations for type 2 diabetes (T2DM in a consensus statement which provides guidance to health care providers. The ADA and EASD consensus statement concur that intervention in T2DM should be early, intensive, and uncompromisingly focused on maintaining glycemic levels as close as possible to the nondiabetic range. Intensive glucose management has been shown to reduce microvascular complications of diabetes but no significant benefits on cardiovascular diseases. Patients with diabetes have a high risk for cardiovascular disease and the treatment of diabetes should emphasize reduction of the cardiovascular factors risk. The treatment of diabetes mellitus in AIDS patients often involves polypharmacy, which increases the risk of suboptimal adherence

  10. [Mutation analysis of seven patients with Waardenburg syndrome].

    Science.gov (United States)

    Hao, Ziqi; Zhou, Yongan; Li, Pengli; Zhang, Quanbin; Li, Jiao; Wang, Pengfei; Li, Xiangshao; Feng, Yong

    2016-06-01

    To perform genetic analysis for 7 patients with Waardenburg syndrome. Potential mutation of MITF, PAX3, SOX10 and SNAI2 genes was screened by polymerase chain reaction and direct sequencing. Functions of non-synonymous polymorphisms were predicted with PolyPhen2 software. Seven mutations, including c.649-651delAGA (p.R217del), c.72delG (p.G24fs), c.185T>C (p.M62T), c.118C>T (p.Q40X), c.422T>C (p.L141P), c.640C>T (p.R214X) and c.28G>T(p.G43V), were detected in the patients. Among these, four mutations of the PAX3 gene (c.72delG, c.185T>C, c.118C>T and c.128G>T) and one SOX10 gene mutation (c.422T>C) were not reported previously. Three non-synonymous SNPs (c.185T>C, c.128G>T and c.422T>C) were predicted as harmful. Genetic mutations have been detected in all patients with Waardenburg syndrome.

  11. Malignant Syndrome in a Patient with Parkinson's Disease<