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Sample records for leigh syndrome due

  1. Adult onset Leigh syndrome

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    Pandit Lekha

    2007-01-01

    Full Text Available Leigh syndrome is a rare progressive mitochondrial disorder of oxidative metabolism. Though it has been reported in infancy and childhood, it is rarely described in adults. The authors describe a patient who had clinical and magnetic resonance imaging features diagnostic of Leigh syndrome, with supportive biochemical and muscle histochemistry evidence.

  2. Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD)

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    Balasubramaniam, S.; Lewis, B.; Mock, D.M.; Said, H.M.; Tarailo-Graovac, M.; Mattman, A.; Karnebeek, C.D; Thorburn, D.R.; Rodenburg, R.J.T.; Christodoulou, J.

    2017-01-01

    Leigh syndrome (LS), or subacute necrotizing encephalomyelopathy, is a genetically heterogeneous, relentlessly progressive, devastating neurodegenerative disorder that usually presents in infancy or early childhood. A diagnosis of Leigh-like syndrome may be considered in individuals who do not

  3. Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome

    DEFF Research Database (Denmark)

    Ostergaard, Elsebet; Rodenburg, Richard J; van den Brand, Mariël;

    2011-01-01

    This study investigated a girl with Leigh syndrome born to first-cousin parents of Pakistani descent with an isolated respiratory chain complex I deficiency in muscle and fibroblasts. Her early development was delayed, and from age 2 years she started losing motor abilities. Cerebral MRI showed...

  4. Mitochondrial respiratory chain enzyme assay and DNA analysis in peripheral blood leukocytes for the etiological study of Chinese children with Leigh syndrome due to complex I deficiency.

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    Ma, Yan Yan; Wu, Tong Fei; Liu, Yu Peng; Wang, Qiao; Li, Xi Yuan; Zhang, Yao; Song, Jin Qing; Wang, Yu Jie; Yang, Yan Ling

    2013-02-01

    Mitochondrial respiratory chain complex I enzyme deficiency is the most commonly seen mitochondrial respiratory chain disorder. Although screening and diagnostic methods are available overseas, clinically feasible diagnostic methods have not yet been established in China. In this study, four Chinese boys with Leigh syndrome due to complex I deficiency were diagnosed by mitochondrial respiratory chain enzyme assay and DNA analysis using peripheral blood leukocytes. Four patients were admitted at the age of 5-14 years because of unexplained progressive neuromuscular symptoms, including motor developmental delay or regression, weakness, and seizures. Their cranial magnetic resonance imaging revealed typical finding as Leigh syndrome. Peripheral leukocyte mitochondrial respiratory chain complex I activities were found decreased to 9.6-33.1 nmol/min/mg mitochondrial protein(control 44.0 ± 5.4 nmol/min/mg). The ratios of complex I to citrate synthase activity were also decreased (8.9-19.8% in patients vs. control 48 ± 11%). Three mtDNA mutations were identified from three out of four patients, supporting the diagnosis of complex I deficiency. Point mutations m.10191T>C in mitochondrial ND3 gene, m.13513G>A in ND5 gene and m.14,453G>A in ND6 gene were detected in three patients.

  5. Leigh syndrome: Clinical and paraclinical study

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    "Ashrafi MR

    2002-08-01

    Full Text Available During two years study about mitochondrial disease (Sep 1999-Agu 2001, 15 cases of Leigh syndrome (LS were diagnosed, that consisted of 11 boys and 4 girls aged between 6 to 156 (mean: 40.5 months. Most of the patients (46.7% became symptomatic between 1-5 years of age. Triggering factors were reported in 66.6% of the patients and 40% of them became symptomatic after infections. The most frequent presenting symptoms of the patients were somnolence and lethargy (40%, developmental regression (20% and seizure (13.3%. The most common neurologic findings were developmental regression or arrest (93.3%, seizure (93.3% abnormal tone (86.7% and abnormal movements (53.3%. Blood lactate increased in 93.3% and blood ammonia elevated in 26.7% of the cases. Symmetric striatal necrosis (100% and caudate nucleus involvement (73.3% were the most frequent neuroimaging findings of the patients.

  6. [A case of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode/Leigh overlap syndrome].

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    Matsui, Jun; Takano, Tomoyuki; Ryujin, Fukiko; Anzai, Yuko; Yoshioka, Seiichiro; Takeuchi, Yoshihiro; Goto, Yuichi

    2014-09-01

    We experienced a case in which mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) was identified as complications following the onset of Leigh syndrome along with a 10191 T>C mutation of the mitochondrial gene. The case pertains to a 26-year-old woman. The disease appeared when she was 11 years old due to divergent strabismus, at which point a diagnosis of juvenile Leigh syndrome was made. Many infraction images not conforming to the vessel region were observed upon a brain MRI which was performed at 26 years of age, thus leading to her being diagnosed with MELAS as a complication. Upoon bibliographical consideration, it was speculated that the clinical features of MELAS/Leigh overlap syndrome clearly differ from Leigh syndrome in terms of age of onset, symptoms, and prognosis. Pleiotropic genetic factors including heteroplasmy were presumed to be involved in the diverse phenotype of overlap syndrome.

  7. A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome.

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    Munaro, M; Tiranti, V; Sandonà, D; Lamantea, E; Uziel, G; Bisson, R; Zeviani, M

    1997-02-01

    A generalized defect of complex IV (cytochrome C oxidase, COX) is frequently found in subacute necrotizing encephalomyelopathy (Leigh's syndrome), the most common mitochondrial disorder in infancy. We previously demonstrated the nuclear origin of the COX defect in one case, by fusing nuclear DNA-less cytoplasts derived from normal fibroblasts with mitochondrial DNA (mtDNA)-less transformant fibroblasts derived from a patient with COX-defective [COX(-)] Leigh's syndrome. The resulting cybrid line showed a specific and serve COX(-) phenotype. Conversely, in the present study, we demonstrated that a COX(+) phenotype could be restored in hybrids obtained by fusing COX(-) transformant fibroblasts of seven additional Leigh's syndrome patients with mtDNA-less, COX(-) tumor-derived rho degree cells. Both these results are explained by the presence of a mutation in a nuclear gene. In a second set of experiments, in order to demonstrate whether COX(-) Leigh's syndrome is due to a defect in the same gene, or in different genes, we tested several hybrids derived by fusing our original COX(-) cell line with each of the remaining seven cell lines. COX activity was evaluated in situ by histochemical techniques and in cell extracts by a spectrophotometric assay. No COX complementers were found among the resulting hybrid lines. This result demonstrates that all our cases were genetically homogeneous, and suggests that a major nuclear disease locus is associated with several, perhaps most, of the cases of infantile COX(-) Leigh's syndrome. This information should make it easier to identify the gene responsible.

  8. Long survival in leigh syndrome: new cases and review of literature

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    Aulbert, W.; Weigt-Usinger, K.; Thiels, C.; Kohler, C.; Vorgerd, M.; Schreiner, A.; Hoffjan, S.; Rothoeft, T.; Wortmann, S.B.; Heyer, C.M.; Podskarbi, T.; Lucke, T.

    2014-01-01

    Leigh syndrome (MIM 25600), also known as infantile subacute necrotizing encephalomyelopathy, is a neurodegenerative disorder with characteristic bilateral symmetric lesions in basal ganglia and subcortical brain regions. It is commonly associated with systemic cytochrome c oxidase (COX) deficiency

  9. Leigh syndrome. A comparison of CT scanning and pathological findings

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    Hirata, Y.; Okamoto, K.; Somiya, K. (Hamamatsu Medical Center, Shizuoka (Japan)); Hokazono, Y.; Tozuka, S.

    1981-11-01

    A male infant developed hypotonia at 5 months, vomiting, diarrhea, fever, generalized clonic convulsion, tonic spasm and periodical opisthotonus at 8 months, swallowing difficulty at 10 months, pes equinovarus and optic atrophy at 11 months, and then tachypnea, and died at 14 months of age. Parents were consanguinous. Laboratory studies revealed elevated serum LDH, CPK, lactate and Pyruvate. TPP-ATP phosphoryl transferase inhibitor was negative in urine. EEG showed irregular and diffuse slow waves and periodic diffuse spike and waves. CT scan at 9 months of age showed slightly low attenuation areas in the putamen bilaterally. At 11 months, a diffuse cerebral atrophy was found, and the low attenuation of the basal ganglia became more definite. No enhanced lesion was seen at 13 months of age. Thiamine tetra-hydrofurfuryl disulfide and lipoic acid were tried without success. The pathological findings of the brain were astrogliosis and proliferation of capillaries in putamen, thalamus, caudate nucleus, substantia nigra, pontine brachium and cerebral cortex, which were symmetrically involved. The symmetrical cavitation was found in putamen. Optic nerve and mamillary body were spared. CT scan findings corresponded well with the pathology of the necrotic lesions of the brain. It was concluded that these CT scan pictures described above may be diagnostic of Leigh syndrome.

  10. The neuroimaging of Leigh syndrome: case series and review of the literature

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    Bonfante, Eliana; Riascos, Roy F. [The University of Texas Medical School at Houston, Department of Diagnostic and Interventional Imaging, Houston, TX (United States); Koenig, Mary Kay [The University of Texas Medical School at Houston, Department of Pediatrics, Division of Child and Adolescent Neurology, Mitochondrial Center of Excellence Leigh Clinic, Houston, TX (United States); Adejumo, Rahmat B.; Perinjelil, Vinu [The University of Texas Medical School at Houston, Department of Pediatrics, Division of Child and Adolescent Neurology, Houston, TX (United States)

    2016-04-15

    Leigh syndrome by definition is (1) a neurodegenerative disease with variable symptoms, (2) caused by mitochondrial dysfunction from a hereditary genetic defect and (3) accompanied by bilateral central nervous system lesions. A genetic etiology is confirmed in approximately 50% of patients, with more than 60 identified mutations in the nuclear and mitochondrial genomes. Here we review the clinical features and imaging studies of Leigh syndrome and describe the neuroimaging findings in a cohort of 17 children with genetically confirmed Leigh syndrome. MR findings include lesions in the brainstem in 9 children (53%), basal ganglia in 13 (76%), thalami in 4 (24%) and dentate nuclei in 2 (12%), and global atrophy in 2 (12%). The brainstem lesions were most frequent in the midbrain and medulla oblongata. With follow-up an increased number of lesions from baseline was observed in 7 of 13 children, evolution of the initial lesion was seen in 6, and complete regression of the lesions was seen in 3. No cerebral white matter lesions were found in any of the 17 children. In concordance with the literature, we found that Leigh syndrome follows a similar pattern of bilateral, symmetrical basal ganglia or brainstem changes. Lesions in Leigh syndrome evolve over time and a lack of visible lesions does not exclude the diagnosis. Reversibility of lesions is seen in some patients, making the continued search for treatment and prevention a priority for clinicians and researchers. (orig.)

  11. Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome.

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    Ugalde, C.; Hinttala, R.; Timal, S.; Smeets, R.; Rodenburg, R.J.T.; Uusimaa, J.; Heuvel, L.P.W.J. van den; Nijtmans, L.G.J.; Majamaa, K.; Smeitink, J.A.M.

    2007-01-01

    We describe a novel mitochondrial ND2 mutation (T4681C) in a patient presenting with Leigh Syndrome. Biochemical analyses revealed a low isolated complex I activity in patient's fibroblasts, blood and skeletal muscle. Mutant transmitochondrial cybrid clones retained the specific complex I defect,

  12. Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome

    Institute of Scientific and Technical Information of China (English)

    YANG Yan-ling; QI Zhao-yue; ZHANG Yue-hua; JIANG Yu-wu; BAO Xin-hua; QIN Jiong; WU Xi-ru; SUN Fang; ZHANG Yao; QIAN Ning; YUAN Yun; WANG Zhao-xia; QI Yu; XIAO Jiang-xi; WANG Xiao-ying

    2006-01-01

    Background Leigh syndrome is an inherited neurodegenerative disease that emerges in infancy and childhood and presents with a clinically heterogeneous variety of neuromuscular and non-neuromuscular disorders. It can result from the inheritance of mutations in either nuclear or mitochondrial DNA. In the current study, we performed a retrospective study in 65 patients in order to investigate the clinical and genetic characteristics of Leigh syndrome in Chinese patients.Methods Sixty-five unrelated cases (35 men and 30 women) who were hospitalized in the past 12 years were reviewed. Diagnosis was based on both the clinical presentation and the characteristic neuropathologic findings of bilateral symmetric necrotizing lesions in the basal ganglia and brain stem as detected using cranial computed tomography (CT) scan or magnetic resonance imaging (MRI). The differential diagnosis of organic acidurias and fatty acid β-oxidation defects were performed. Specific point mutations and deletions in mitochondrial DNA (T8993G, T8993C, T9176C, A8344G, A3243G) were screened by PCR-restriction analysis and Southern blot.The SURF1 gene was sequenced. Skeletal muscle biopsies were performed in 17 (26.2%) of the patients. The diagnosis was confirmed by autopsy in 6 (9.2%) patients.Results The patients had various forms of metabolic encephalomyopathy. Fifty-nine (90.8%) of the patients had the typical neuroradiological features of Leigh syndrome, including symmetrical necrotizing lesions scattered within the basal ganglia, thalamus and brain stem. Twenty (30.8%) patients were confirmed by genetic,biochemical analysis and autopsy. Specific point mutations in mitochondrial DNA were found in 5 cases (7.7%).Of these, the A8344G mutation was detected in 2 patients. The T8993G, T8993C, and A3243G point mutations were identified in 3 other patients, respectively. SURF1 mutations associated with cytochrome c oxidase deficiency were identified in 8 (12.3%) families by DNA sequencing. A G604C

  13. LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency.

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    Debray, François-Guillaume; Morin, Charles; Janvier, Annie; Villeneuve, Josée; Maranda, Bruno; Laframboise, Rachel; Lacroix, Jacques; Decarie, Jean-Claude; Robitaille, Yves; Lambert, Marie; Robinson, Brian H; Mitchell, Grant A

    2011-03-01

    The natural history of all known patients with French-Canadian Leigh disease (Saguenay-Lac-St-Jean cytochrome c oxidase deficiency, MIM220111, SLSJ-COX), the largest known cohort of patients with a genetically homogeneous, nuclear encoded congenital lactic acidosis, was studied. 55 of 56 patients were homozygous for the A354V mutation in LRPPRC. One was a genetic compound (A354V/C1277Xdel8). Clinical features included developmental delay, failure to thrive, characteristic facial appearance and, in 90% of patients, acute crises that have not previously been detailed, either metabolic (fulminant lactic acidosis) and/or neurological (Leigh syndrome and/or stroke-like episodes). Survival ranged from 5 days to >30 years. 46/56 patients (82%) died, at a median age of 1.6 years. Of 73 crises, 38 (52%) were fatal. The immediate causes of death were multiple organ failure and/or Leigh disease. Major predictors of mortality during crises (pgenetic and/or environmental factors can influence outcome.

  14. Mutation of Mitochondrial DNA G13513A Presenting with Leigh Syndrome, Wolff-Parkinson-White Syndrome and Cardiomyopathy

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    Shi-Bing Wang

    2008-08-01

    Full Text Available Mutation of mitochondrial DNA (mtDNA G13513A, encoding the ND5 subunit of respiratory chain complex I, can cause mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS and Leigh syndrome. Wolff-Parkinson-White (WPW syndrome and optic atrophy were reported in a high proportion of patients with this mutation. We report an 18-month-old girl, with an 11-month history of psychomotor regression who was diagnosed with WPW syndrome and hypertrophic cardiomyopathy, in association with Leigh syndrome. Supplementation with coenzyme Q10, thiamine and carnitine prevented further regression in gross motor function but the patient's heart function deteriorated and dilated cardiomyopathy developed 11 months later. She was found to have a mutation of mtDNA G13513A. We suggest that mtDNA G13513A mutation is an important factor in patients with Leigh syndrome associated with WPW syndrome and/or optic atrophy, and serial heart function monitoring by echocardiography is recommended in this group of patients.

  15. Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation.

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    Fruhman, Gary; Landsverk, Megan L; Lotze, Timothy E; Hunter, Jill V; Wangler, Michael F; Adesina, Adekunle M; Wong, Lee-Jun C; Scaglia, Fernando

    2011-06-01

    Leber hereditary optic neuropathy (LHON) is caused by point mutations in mitochondrial DNA (mtDNA), and is characterized by bilateral, painless sub-acute visual loss that develops during the second decade of life. Here we report the case of a five year old girl who presented with clinical and neuroradiological findings reminiscent of Leigh syndrome but carried a mtDNA mutation m.11778G>A (p.R340H) in the MTND4 gene usually observed in patients with LHON. This case is unusual for age of onset, gender, associated neurological findings and evolution, further expanding the clinical spectrum associated with primary LHON mtDNA mutations.

  16. Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.

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    Mariella Simon

    2015-03-01

    Full Text Available Here we demonstrate association of variants in the mitochondrial asparaginyl-tRNA synthetase NARS2 with human hearing loss and Leigh syndrome. A homozygous missense mutation ([c.637G>T; p.Val213Phe] is the underlying cause of nonsyndromic hearing loss (DFNB94 and compound heterozygous mutations ([c.969T>A; p.Tyr323*] + [c.1142A>G; p.Asn381Ser] result in mitochondrial respiratory chain deficiency and Leigh syndrome, which is a neurodegenerative disease characterized by symmetric, bilateral lesions in the basal ganglia, thalamus, and brain stem. The severity of the genetic lesions and their effects on NARS2 protein structure cosegregate with the phenotype. A hypothetical truncated NARS2 protein, secondary to the Leigh syndrome mutation p.Tyr323* is not detectable and p.Asn381Ser further decreases NARS2 protein levels in patient fibroblasts. p.Asn381Ser also disrupts dimerization of NARS2, while the hearing loss p.Val213Phe variant has no effect on NARS2 oligomerization. Additionally we demonstrate decreased steady-state levels of mt-tRNAAsn in fibroblasts from the Leigh syndrome patients. In these cells we show that a decrease in oxygen consumption rates (OCR and electron transport chain (ETC activity can be rescued by overexpression of wild type NARS2. However, overexpression of the hearing loss associated p.Val213Phe mutant protein in these fibroblasts cannot complement the OCR and ETC defects. Our findings establish lesions in NARS2 as a new cause for nonsyndromic hearing loss and Leigh syndrome.

  17. Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency.

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    Tiranti, V; Jaksch, M; Hofmann, S; Galimberti, C; Hoertnagel, K; Lulli, L; Freisinger, P; Bindoff, L; Gerbitz, K D; Comi, G P; Uziel, G; Zeviani, M; Meitinger, T

    1999-08-01

    Mutations of SURF-1, a gene located on chromosome 9q34, have recently been identified in patients affected by Leigh syndrome (LS), associated with deficiency of cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain. To investigate to what extent SURF-1 is responsible for human disorders because of COX deficiency, we undertook sequence analysis of the SURF-1 gene in 46 unrelated patients. We analyzed 24 COX-defective patients classified as having typical Leigh syndrome (LS(COX)), 6 patients classified as Leigh-like (LL(COX)) cases, and 16 patients classified as non-LS(COX) cases. Frameshift, stop, and splice mutations of SURF-1 were detected in 18 of 24 (75%) of the LS(COX) cases. No mutations were found in the LL(COX) and non-LS(COX) group of patients. Rescue of the COX phenotype was observed in transfected cells from patients harboring SURF-1 mutations, but not in transfected cell lines from 2 patients in whom no mutations were detected by sequence analysis. Loss of function of SURF-1 protein is specifically associated with LS(COX), although a proportion of LS(COX) cases must be the result of abnormalities in genes other than SURF-1. SURF-1 is the first nuclear gene to be consistently mutated in a major category of respiratory chain defects. DNA analysis can now be used to accurately diagnose LS(COX), a common subtype of Leigh syndrome.

  18. The genetics of Leigh syndrome and its implications for clinical practice and risk management.

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    Ruhoy, Ilene S; Saneto, Russell P

    2014-01-01

    Leigh syndrome, also referred to as subacute necrotizing encephalomyelopathy, is a severe, early-onset neurodegenerative disorder that is relentlessly progressive and devastating to both the patient and the patient's family. Attributed to the ultimate failure of the mitochondrial respiratory chain, once it starts, the disease often results in the regression of both mental and motor skills, leading to disability and rapid progression to death. It is a mitochondrial disorder with both phenotypic and genetic heterogeneity. The cause of death is most often respiratory failure, but there are a whole host of complications, including refractory seizures, that may further complicate morbidity and mortality. The symptoms may develop slowly or with rapid progression, usually associated with age of onset. Although the disease is usually diagnosed within the first year of life, it is important to note that recent studies reveal phenotypic heterogeneity, with some patients having evidence of in utero presentation and others having adult-onset symptoms.

  19. A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome

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    Hiroko Shimbo

    2014-01-01

    Full Text Available Large numbers of genes are responsible for Leigh syndrome (LS, making genetic confirmation of LS difficult. We screened our patients with LS using a limited set of 21 primers encompassing the frequently reported gene for the respiratory chain complexes I (ND1–ND6, and ND4L, IV(SURF1, and V(ATP6 and the pyruvate dehydrogenase E1α-subunit. Of 18 LS patients, we identified mutations in 11 patients, including 7 in mDNA (two with ATP6, 4 in nuclear (three with SURF1. Overall, we identified mutations in 61% of LS patients (11/18 individuals in this cohort. Sanger sequencing with our limited set of primers allowed us a rapid genetic confirmation of more than half of the LS patients and it appears to be efficient as a primary genetic screening in this cohort.

  20. Mitochondrial DNA deletion in a patient with combined features of Leigh and Pearson syndromes

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    Blok, R.B.; Thorburn, D.R.; Danks, D.M. [Royal Children`s Hospital, Melbourne (Australia)] [and others

    1994-09-01

    We describe a heteroplasmic 4237 bp mitochondrial DNA (mtDNA) deletion in an 11 year old girl who has suffered from progressive illness since birth. She has some features of Leigh syndrome (global developmental delay with regression, brainstem dysfunction and lactic acidosis), together with other features suggestive of Pearson syndrome (history of pancytopenia and failure to thrive). The deletion was present at a level greater than 50% in skeletal muscle, but barely detectable in skin fibroblasts following Southern blot analysis, and only observed in blood following PCR analysis. The deletion spanned nt 9498 to nt 13734, and was flanked by a 12 bp direct repeat. Genes for cytochrome c oxidase subunit III, NADH dehydrogenase subunits 3, 4L, 4 and 5, and tRNAs for glycine, arginine, histidine, serine({sup AGY}) and leucine({sup CUN}) were deleted. Southern blotting also revealed an altered Apa I restriction site which was shown by sequence analysis to be caused by G{r_arrow}A nucleotide substitution at nt 1462 in the 12S rRNA gene. This was presumed to be a polymorphism. No abnormalities of mitochondrial ultrastructure, distribution or of respiratory chain enzyme complexes I-IV in skeletal muscle were observed. Mitochondrial disorders with clinical features overlapping more than one syndrome have been reported previously. This case further demonstrates the difficulty in correlating observed clinical features with a specific mitochondrial DNA mutation.

  1. The genetics of Leigh syndrome and its implications for clinical practice and risk management

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    Ruhoy IS

    2014-11-01

    Full Text Available Ilene S Ruhoy, Russell P Saneto Division of Pediatric Neurology, Seattle Children's Hospital/University of Washington, Seattle, WA, USAAbstract: Leigh syndrome, also referred to as subacute necrotizing encephalomyelopathy, is a severe, early-onset neurodegenerative disorder that is relentlessly progressive and devastating to both the patient and the patient's family. Attributed to the ultimate failure of the mitochondrial respiratory chain, once it starts, the disease often results in the regression of both mental and motor skills, leading to disability and rapid progression to death. It is a mitochondrial disorder with both phenotypic and genetic heterogeneity. The cause of death is most often respiratory failure, but there are a whole host of complications, including refractory seizures, that may further complicate morbidity and mortality. The symptoms may develop slowly or with rapid progression, usually associated with age of onset. Although the disease is usually diagnosed within the first year of life, it is important to note that recent studies reveal phenotypic heterogeneity, with some patients having evidence of in utero presentation and others having adult-onset symptoms.Keywords: mitochondrial disorder, neurodegeneration, multisystemic disease, oxidative phosphorylation, mitochondrial DNA, neuroimaging, seizures

  2. Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency.

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    Péquignot, M O; Dey, R; Zeviani, M; Tiranti, V; Godinot, C; Poyau, A; Sue, C; Di Mauro, S; Abitbol, M; Marsac, C

    2001-05-01

    Cytochrome c oxidase (COX) deficiency is one of the major causes of Leigh Syndrome (LS), a fatal encephalopathy of infancy or childhood, characterized by symmetrical lesions in the basal ganglia and brainstem. Mutations in the nuclear genes encoding COX subunits have not been found in patients with LS and COX deficiency, but mutations have been identified in SURF1. SURF1 encodes a factor involved in COX biogenesis. To date, 30 different mutations have been reported in 40 unrelated patients. We aim to provide an overview of all known mutations in SURF1, and to propose a common nomenclature. Twelve of the mutations were insertion/deletion mutations in exons 1, 4, 6, 8, and 9; 10 were missense/nonsense mutations in exons 2, 4, 5, 7, and 8; and eight were detected at splicing sites in introns 3 to 7. The most frequent mutation was 312_321del 311_312insAT which was found in 12 patients out of 40. Twenty mutations have been described only once. We also list all polymorphisms discovered to date.

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

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

    2015-04-01

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

  4. Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.

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    Ortigoza-Escobar, Juan Darío; Molero-Luis, Marta; Arias, Angela; Oyarzabal, Alfonso; Darín, Niklas; Serrano, Mercedes; Garcia-Cazorla, Angels; Tondo, Mireia; Hernández, María; Garcia-Villoria, Judit; Casado, Mercedes; Gort, Laura; Mayr, Johannes A; Rodríguez-Pombo, Pilar; Ribes, Antonia; Artuch, Rafael; Pérez-Dueñas, Belén

    2016-01-01

    Thiamine transporter-2 deficiency is caused by mutations in the SLC19A3 gene. As opposed to other causes of Leigh syndrome, early administration of thiamine and biotin has a dramatic and immediate clinical effect. New biochemical markers are needed to aid in early diagnosis and timely therapeutic intervention. Thiamine derivatives were analysed by high performance liquid chromatography in 106 whole blood and 38 cerebrospinal fluid samples from paediatric controls, 16 cerebrospinal fluid samples from patients with Leigh syndrome, six of whom harboured mutations in the SLC19A3 gene, and 49 patients with other neurological disorders. Free-thiamine was remarkably reduced in the cerebrospinal fluid of five SLC19A3 patients before treatment. In contrast, free-thiamine was slightly decreased in 15.2% of patients with other neurological conditions, and above the reference range in one SLC19A3 patient on thiamine supplementation. We also observed a severe deficiency of free-thiamine and low levels of thiamine diphosphate in fibroblasts from SLC19A3 patients. Surprisingly, pyruvate dehydrogenase activity and mitochondrial substrate oxidation rates were within the control range. Thiamine derivatives normalized after the addition of thiamine to the culture medium. In conclusion, we found a profound deficiency of free-thiamine in the CSF and fibroblasts of patients with thiamine transporter-2 deficiency. Thiamine supplementation led to clinical improvement in patients early treated and restored thiamine values in fibroblasts and cerebrospinal fluid.

  5. The mitochondrial 13513G > A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White.

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    Ruiter, E.M.; Siers, M.H.; Elzen, C. van der; Engelen, B.G.M. van; Smeitink, J.A.M.; Rodenburg, R.J.T.; Hol, F.A.

    2007-01-01

    The m.13513G > A transition in the mitochondrial gene encoding the ND5 subunit of respiratory chain complex I, can cause mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) and has been reported to be a frequent cause of Leigh syndrome (LS). We determined the fre

  6. The mitochondrial 13513G > A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White.

    NARCIS (Netherlands)

    Ruiter, E.M.; Siers, M.H.; Elzen, C. van der; Engelen, B.G.M. van; Smeitink, J.A.M.; Rodenburg, R.J.T.; Hol, F.A.

    2007-01-01

    The m.13513G > A transition in the mitochondrial gene encoding the ND5 subunit of respiratory chain complex I, can cause mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) and has been reported to be a frequent cause of Leigh syndrome (LS). We determined the fre

  7. Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.

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    Hallmann, Kerstin; Kudin, Alexei P; Zsurka, Gábor; Kornblum, Cornelia; Reimann, Jens; Stüve, Burkhard; Waltz, Stephan; Hattingen, Elke; Thiele, Holger; Nürnberg, Peter; Rüb, Cornelia; Voos, Wolfgang; Kopatz, Jens; Neumann, Harald; Kunz, Wolfram S

    2016-02-01

    Isolated cytochrome c oxidase (complex IV) deficiency is one of the most frequent respiratory chain defects in humans and is usually caused by mutations in proteins required for assembly of the complex. Mutations in nuclear-encoded structural subunits are very rare. In a patient with Leigh-like syndrome presenting with leukodystrophy and severe epilepsy, we identified a homozygous splice site mutation in COX8A, which codes for the ubiquitously expressed isoform of subunit VIII, the smallest nuclear-encoded subunit of complex IV. The mutation, affecting the last nucleotide of intron 1, leads to aberrant splicing, a frame-shift in the highly conserved exon 2, and decreased amount of the COX8A transcript. The loss of the wild-type COX8A protein severely impairs the stability of the entire cytochrome c oxidase enzyme complex and manifests in isolated complex IV deficiency in skeletal muscle and fibroblasts, similar to the frequent c.845_846delCT mutation in the assembly factor SURF1 gene. Stability and activity of complex IV could be rescued in the patient's fibroblasts by lentiviral expression of wild-type COX8A. Our findings demonstrate that COX8A is indispensable for function of human complex IV and its mutation causes human disease.

  8. Abordagem anestésica em paciente pediátrico com síndrome de Leigh Abordaje anestésico en paciente Pediátrico con el síndrome de Leigh Anesthetic management of a pediatric patient with Leigh syndrome

    Directory of Open Access Journals (Sweden)

    Ismail Serhat Kocamanoglu

    2013-04-01

    años, con la forma grave de SL que nos ocupa con la reparación de una fractura de fémur. El propofol y el remifentanilo se infundieron para la anestesia general. El paciente fue monitoreado con mucho cuidado durante la anestesia y durante su permanencia en la unidad de cuidados intensivos en el período postoperatorio inicial. CONCLUSIONES: Una meticulosa monitorización intraoperatória de los pacientes, que incluye monitorización de presión arterial invasiva y mensuraciones frecuentes de la gasometría, glucosa y lactato, posibilita el perfecto transcurso del procedimiento. Los cuidados intensivos y la asistencia respiratoria al paciente con SL bajo sedación con una combinación de analgésicos durante el período postoperatorio inicial, minimizaron la respuesta al estrés causado por el dolor postquirúrgico.BACKGROUND AND OBJECTIVES: Leigh syndrome (LS is a rare disease caused by abnormalities of mitochondrial energy generation. The central nervous system is most frequently affected, with psychomotor underdevelopment, seizures, nystagmus, ophthalmoparesis, optic atrophy, ataxia, dystonia, or respiratory failure. Surgical and anesthetic procedures stimulate the tracheal irritability, and could exacerbate risks of aspiration, wheezing, breathing difficulties, gasping, hypoventilation, and apnea. CASE REPORT: We present the anesthetic management for a six-year-old boy with severe form of LS, involving repair of a femur fracture. Propofol and remifentanil were infused for general anesthesia. The patient was closely monitored during anesthesia and in the intensive care unit in the early postoperative period. CONCLUSIONS: Close intraoperative monitoring of patients, including invasive arterial blood pressure monitoring and frequently measuring the levels of blood gases, glucose, and lactate, made this procedure run smoothly. Intensive care and breathing support for the patient with LS, under sedation with an analgesic combination during the early postoperative

  9. Mitochondrial vulnerability and increased susceptibility to nutrient-induced cytotoxicity in fibroblasts from leigh syndrome French canadian patients.

    Directory of Open Access Journals (Sweden)

    Yan Burelle

    Full Text Available Mutations in LRPPRC are responsible for the French Canadian variant of Leigh Syndrome (LSFC, a severe disorder characterized biochemically by a tissue-specific deficiency of cytochrome c oxidase (COX and clinically by the occurrence of severe and deadly acidotic crises. Factors that precipitate these crises remain unclear. To better understand the physiopathology and identify potential treatments, we performed a comprehensive analysis of mitochondrial function in LSFC and control fibroblasts. Furthermore, we have used this cell-based model to screen for conditions that promote premature cell death in LSFC cells and test the protective effect of ten interventions targeting well-defined aspects of mitochondrial function. We show that, despite maintaining normal ATP levels, LSFC fibroblasts present several mitochondrial functional abnormalities under normal baseline conditions, which likely impair their capacity to respond to stress. This includes mitochondrial network fragmentation, impaired oxidative phosphorylation capacity, lower membrane potential, increased sensitivity to Ca2+-induced permeability transition, but no changes in reactive oxygen species production. We also show that LSFC fibroblasts display enhanced susceptibility to cell death when exposed to palmitate, an effect that is potentiated by high lactate, while high glucose or acidosis alone or in combination were neutral. Furthermore, we demonstrate that compounds that are known to promote flux through the electron transport chain independent of phosphorylation (methylene blue, dinitrophenol, or modulate fatty acid (L-carnitine or Krebs cycle metabolism (propionate are protective, while antioxidants (idebenone, N-acetyl cysteine, resveratrol exacerbate palmitate plus lactate-induced cell death. Collectively, beyond highlighting multiple alterations in mitochondrial function and increased susceptibility to nutrient-induced cytotoxicity in LSFC fibroblasts, these results raise

  10. Mitochondrial Vulnerability and Increased Susceptibility to Nutrient-Induced Cytotoxicity in Fibroblasts from Leigh Syndrome French Canadian Patients

    Science.gov (United States)

    Burelle, Yan; Thompson Legault, Julie; Boucher, Gabrielle; Morin, Charles; Coderre, Lise; Des Rosiers, Christine

    2015-01-01

    Mutations in LRPPRC are responsible for the French Canadian variant of Leigh Syndrome (LSFC), a severe disorder characterized biochemically by a tissue-specific deficiency of cytochrome c oxidase (COX) and clinically by the occurrence of severe and deadly acidotic crises. Factors that precipitate these crises remain unclear. To better understand the physiopathology and identify potential treatments, we performed a comprehensive analysis of mitochondrial function in LSFC and control fibroblasts. Furthermore, we have used this cell-based model to screen for conditions that promote premature cell death in LSFC cells and test the protective effect of ten interventions targeting well-defined aspects of mitochondrial function. We show that, despite maintaining normal ATP levels, LSFC fibroblasts present several mitochondrial functional abnormalities under normal baseline conditions, which likely impair their capacity to respond to stress. This includes mitochondrial network fragmentation, impaired oxidative phosphorylation capacity, lower membrane potential, increased sensitivity to Ca2+-induced permeability transition, but no changes in reactive oxygen species production. We also show that LSFC fibroblasts display enhanced susceptibility to cell death when exposed to palmitate, an effect that is potentiated by high lactate, while high glucose or acidosis alone or in combination were neutral. Furthermore, we demonstrate that compounds that are known to promote flux through the electron transport chain independent of phosphorylation (methylene blue, dinitrophenol), or modulate fatty acid (L-carnitine) or Krebs cycle metabolism (propionate) are protective, while antioxidants (idebenone, N-acetyl cysteine, resveratrol) exacerbate palmitate plus lactate-induced cell death. Collectively, beyond highlighting multiple alterations in mitochondrial function and increased susceptibility to nutrient-induced cytotoxicity in LSFC fibroblasts, these results raise questions about the

  11. Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy.

    Science.gov (United States)

    Koch, Johannes; Feichtinger, René G; Freisinger, Peter; Pies, Mechthild; Schrödl, Falk; Iuso, Arcangela; Sperl, Wolfgang; Mayr, Johannes A; Prokisch, Holger; Haack, Tobias B

    2016-04-01

    Mitochondria are dynamic organelles which undergo continuous fission and fusion to maintain their diverse cellular functions. Components of the fission machinery are partly shared between mitochondria and peroxisomes, and inherited defects in two such components (dynamin-related protein (DRP1) and ganglioside-induced differentiation-associated protein 1 (GDAP1)) have been associated with human disease. Deficiency of a third component (mitochondrial fission factor, MFF) was recently reported in one index patient, rendering MFF another candidate disease gene within the expanding field of mitochondrial and peroxisomal dynamics. Here we investigated three new patients from two families with pathogenic mutations in MFF. The patients underwent clinical examination, brain MRI, and biochemical, cytological and molecular analyses, including exome sequencing. The patients became symptomatic within the first year of life, exhibiting seizures, developmental delay and acquired microcephaly. Dysphagia, spasticity and optic and peripheral neuropathy developed subsequently. Brain MRI showed Leigh-like patterns with bilateral changes of the basal ganglia and subthalamic nucleus, suggestive of impaired mitochondrial energy metabolism. However, activities of mitochondrial respiratory chain complexes were found to be normal in skeletal muscle. Exome sequencing revealed three different biallelic loss-of-function variants in MFF in both index cases. Western blot studies of patient-derived fibroblasts indicated normal content of mitochondria and peroxisomes, whereas immunofluorescence staining revealed elongated mitochondria and peroxisomes. Furthermore, increased mitochondrial branching and an abnormal distribution of fission-mediating DRP1 were observed. Our findings establish MFF loss of function as a cause of disturbed mitochondrial and peroxisomal dynamics associated with early-onset Leigh-like basal ganglia disease. We suggest that, even if laboratory findings are not indicative of

  12. Mitochondrial gene therapy improves respiration, biogenesis, and transcription in G11778A Leber's hereditary optic neuropathy and T8993G Leigh's syndrome cells.

    Science.gov (United States)

    Iyer, Shilpa; Bergquist, Kristen; Young, Kisha; Gnaiger, Erich; Rao, Raj R; Bennett, James P

    2012-06-01

    Many incurable mitochondrial disorders result from mutant mitochondrial DNA (mtDNA) and impaired respiration. Leigh's syndrome (LS) is a fatal neurodegenerative disorder of infants, and Leber's hereditary optic neuropathy (LHON) causes blindness in young adults. Treatment of LHON and LS cells harboring G11778A and T8993G mutant mtDNA, respectively, by >90%, with healthy donor mtDNA complexed with recombinant human mitochondrial transcription factor A (rhTFAM), improved mitochondrial respiration by ∼1.2-fold in LHON cells and restored >50% ATP synthase function in LS cells. Mitochondrial replication, transcription, and translation of key respiratory genes and proteins were increased in the short term. Increased NRF1, TFAMB1, and TFAMA expression alluded to the activation of mitochondrial biogenesis as a mechanism for improving mitochondrial respiration. These results represent the development of a therapeutic approach for LHON and LS patients in the near future.

  13. A rare mitochondrial disorder: Leigh sydrome - a case report

    Directory of Open Access Journals (Sweden)

    Shrikhande Dhananjay Y

    2010-09-01

    Full Text Available Abstract Leigh syndrome is a rare progressive neurodegenerative, mitochondrial disorder of childhood with only a few cases documented from India. The clinical presentation of Leigh syndrome is highly variable. However, in most cases it presents as a progressive neurological disease with motor and intellectual developmental delay and signs and symptoms of brain stem and/or basal ganglia involvement. Raised lactate levels in blood and/or cerebrospinal fluid is noted. It is the neuroimaging, mainly the Magnetic Resonance Imaging showing characteristic symmetrical necrotic lesions in the basal ganglia and/or brain stem that leads to the diagnosis. Here, we report a case of 7 months old female child presenting to us with status epilepticus, delayed developmental milestones and regression of the achieved milestones suspected to be a case of neurodegenerative disorder, which on MRI was diagnosed as Leigh syndrome.

  14. Abordagem anestésica em paciente pediátrico com síndrome de Leigh Abordaje anestésico en paciente Pediátrico con el síndrome de Leigh Anesthetic management of a pediatric patient with Leigh syndrome

    OpenAIRE

    Ismail Serhat Kocamanoglu; Esra Sarihasan

    2013-01-01

    JUSTIFICATIVA E OBJETIVOS: A síndrome de Leigh (SL) é uma doença rara causada por anomalias na produção de energia mitocondrial. O sistema nervoso central é afetado com mais frequência, com retardo psicomotor, convulsões, nistagmo, oftalmoparesia, atrofia óptica, ataxia, distonia ou insuficiência respiratória. Os procedimentos cirúrgicos e anestésicos provocam irritabilidade traqueal e podem exacerbar os riscos de aspiração, sibilação, dificuldade respiratória, respiração ofegante, hipoventil...

  15. A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome.

    Science.gov (United States)

    Tiranti, V; Corona, P; Greco, M; Taanman, J W; Carrara, F; Lamantea, E; Nijtmans, L; Uziel, G; Zeviani, M

    2000-11-01

    We report on a novel frameshift mutation in the mtDNA gene encoding cytochrome c oxidase (COX) subunit III. The proband is an 11-year-old girl with a negative family history and an apparently healthy younger brother. Since 4 years of age, she has developed a progressive spastic paraparesis associated with ophthalmoparesis and moderate mental retardation. The presence of severe lactic acidosis and Leigh-like lesions of putamina prompted us to perform muscle and skin biopsies. In both, a profound, isolated defect of COX was found by histochemical and biochemical assays. Sequence analysis of muscle mtDNA resulted in the identification of a virtually homoplasmic frameshift mutation in the COIII gene, due to the insertion of an extra C at nucleotide position 9537 of mtDNA. Although the 9537C(ins) does not impair transcription of COIII, no full-length COX III protein was detected in mtDNA translation assays in vivo. Western blot analysis of two-dimensional blue-native electrophoresis showed a reduction of specific crossreacting material and the accumulation of early-assembly intermediates of COX, whereas the fully assembled complex was absent. One of these intermediates had an electrophoretic mobility different from those seen in controls, suggesting the presence of a qualitative abnormality of COX assembly. Immunostaining with specific antibodies failed to detect the presence of several smaller subunits in the complex lacking COX III, in spite of the demonstration that these subunits were present in the crude mitochondrial fraction of patient's cultured fibroblasts. Taken together, the data indicate a role for COX III in the incorporation and maintenance of smaller COX subunits within the complex.

  16. Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1.

    Science.gov (United States)

    Sarig, Ofer; Goldsher, Dorit; Nousbeck, Janna; Fuchs-Telem, Dana; Cohen-Katsenelson, Ksenya; Iancu, Theodore C; Manov, Irena; Saada, Ann; Sprecher, Eli; Mandel, Hanna

    2013-09-01

    3-Methylglutaconic aciduria (3-MGCA) type IV is defined as a heterogeneous group of inborn errors featuring in common 3-MGCA and associated with primary mitochondrial dysfunction leading to a spectrum of multisystem conditions. We studied four patients who presented at birth with a clinical picture simulating a primary mitochondrial hepatic disorder consistent with the MEGDEL syndrome including 3-MGCA, sensorineural deafness, encephalopathy and a brain magnetic resonance imaging with signs of Leigh disease. All affected children displayed biochemical features consistent with mitochondrial OXPHOS dysfunction including hepatic mitochondrial DNA depletion in one patient. Homozygosity mapping identified a candidate locus on 6q25.2-6q26. Using whole exome sequencing, we identified two novel homozygous mutations in SERAC1 recently reported to harbor mutations in MEGDEL syndrome. Both mutations were found to lead to decreased or absent expression of SERAC1. The present findings indicate that infantile hepatopathy is a cardinal feature of MEGDEL syndrome. We thus propose to rename the disease MEGDHEL syndrome. Copyright © 2013 Wiley Periodicals, Inc.

  17. Anesthetic considerations in Leigh disease: Case report and literature review

    Directory of Open Access Journals (Sweden)

    Abdullah Sulieman Terkawi

    2012-01-01

    Full Text Available Leigh disease is an extremely rare disorder, characterized by a progressive neurodegenerative course, with subacute necrotizing encephalomyelopathy. It usually presents in infancy with developmental delay, seizures, dysarthria, and ataxia. These patients may also develop episodes of lactic acidosis that usually lead to respiratory failure and death. Due to the rarity of the condition, the most appropriate anesthetic plan remains unclear. We present a patient with Leigh disease, who required general anesthesia. The pathogenesis of the disease is discussed and previous reports of perioperative care from the literature are reviewed.

  18. Genetics Home Reference: Leigh syndrome

    Science.gov (United States)

    ... found in DNA in specialized structures in the cell called mitochondria . This type of DNA is known as mitochondrial ... MT-ATP6 . Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can inherit disorders ...

  19. Paraneoplastic Cushing Syndrome Due To Wilm's Tumor.

    Science.gov (United States)

    Faizan, Mahwish; Manzoor, Jaida; Saleem, Muhammad; Anwar, Saadia; Mehmood, Qaiser; Hameed, Ambreen; Ali, Agha Shabbir

    2017-05-01

    Paraneoplastic syndromes are rare disorders that are triggered by an altered immune system response to neoplasm. Paraneoplastic syndromes may be the first or the most prominent manifestations of cancer. Wilm's tumor is the most frequent pediatric renal malignancy and usually presents with abdominal mass. Unusual presentations like acquired von Willebrand disease, sudden death due to pulmonary embolism and Cushing syndrome have been described in the literature. Cushing syndrome, as the presenting symptom of a malignant renal tumor in children, is a very rare entity. Few case reports are available in the literature exploring the option of preoperative chemotherapy as well as upfront nephrectomy. We report a rare case of paraneoplastic Cushing syndrome due to a Wilm's tumor. Based on gradual decrease of postoperative weight, blood pressure, serum adrenocorticotropic hormone, and plasma cortisol levels, along with histological confirmation of Wilm's tumor, paraneoplastic Cushing syndrome due to Wilm's tumor was confirmed.

  20. Horner syndrome due to vertebral artery stenosis.

    Science.gov (United States)

    Kim, Chul Han

    2013-11-01

    The author reports a rare case of Horner syndrome in a patient who resulted from stenosis of the vertebral artery after blunt trauma. A 31-year-old man was transferred to our department for evaluation of left medial orbital wall and nasal bone fractures. Five days ago, he was hospitalized due to multiple second to fourth rib fractures of the right chest following blunt trauma of the face, neck, and chest. Surgery was performed. Ten days later, he complained of drooping of the right eyelid. Physical examination revealed a discrete miosis and ptosis with normal levator function in the right eye. A workup for Horner syndrome was performed. Magnetic resonance angiography of the head and neck revealed a stenosis of the distal part of the right vertebral artery without the abnormality of carotid artery. He wore a cervical collar and underwent anticoagulation. However, Horner syndrome was not resolved over the next 12 months. Acute traumatic Horner syndrome may be associated with vertebral artery dissection in which the possibility of life-threatening injury can be masked.

  1. The "double panda" sign in Leigh disease.

    Science.gov (United States)

    Sonam, Kothari; Bindu, P S; Gayathri, Narayanappa; Khan, Nahid Akhtar; Govindaraju, C; Arvinda, Hanumanthapura R; Nagappa, Madhu; Sinha, Sanjib; Thangaraj, K; Taly, Arun B

    2014-07-01

    Although the "face of the giant panda" sign on magnetic resonance imaging (MRI) is traditionally considered to be characteristic of Wilson disease, it has also been reported in other metabolic disorders. This study describes the characteristic "giant panda" sign on MRI in a child with Leigh disease. The diagnosis was based on the history of neurological regression; examination findings of oculomotor abnormalities, hypotonia, and dystonia; raised serum lactate levels; and characteristic brain stem and basal ganglia signal changes on MRI. The midbrain and pontine tegmental signal changes were consistent with the "face of the giant panda and her cub" sign. In addition to Wilson disease, metabolic disorders such as Leigh disease should also be considered in the differential diagnosis of this rare imaging finding.

  2. Abdominal Compartment Syndrome due to OHSS

    Directory of Open Access Journals (Sweden)

    Firoozeh Veisi

    2012-03-01

    Full Text Available Abdominal compartment syndrome is a dangerous clinical situation, usually following abdominal injuries&operations. It is seldom observed in patients with gynecologic and obstetric problems. Abdominalcompartment syndrome may be consequence ovarian hyperstimulation syndrome. A 28-year-old womanpresented as a sever ovarian hyperstimulation.The increased IAP indicated that OHSS may beconsidered a compartment syndrome. Abdominal compartment syndrome needs laparotomy orparacentesis for reduction of pressure.

  3. Cushing syndrome due to adrenal tumor

    Science.gov (United States)

    Adrenal tumor - Cushing syndrome ... Cushing syndrome is a disorder that occurs when your body has a higher than normal level of the ... or cancerous (malignant). Noncancerous tumors that can cause ... Adrenal adenomas Micronodular hyperplasia Cancerous tumors that ...

  4. Compartmental syndrome due to viper bite.

    Science.gov (United States)

    Vigasio, A; Battiston, B; De Filippo, G; Brunelli, G; Calabrese, S

    1991-01-01

    The case is reported of a young girl who was bitten on the hand by a viper and developed compartment syndrome of the intrinsic muscles more than 24 h later. Multiple dorsal and volar fasciotomies resolved the acute episode with complete restitutio ad integrum. The clinical case is discussed in detail and the literature on these rare complications of snake bites in European countries reviewed.

  5. Lethal neuroleptic malignant syndrome due to amisulpride.

    Science.gov (United States)

    Musshoff, Frank; Doberentz, Elke; Madea, Burkhard

    2013-06-01

    A 42-year old-man was found lying in his bed having seizures. Later he became unconscious and hypotonic developing mydriasis as well as rigidity. The body core temperature (rectal temperature) was above 42 °C. Blood pH was decreased during treatment, and his general condition deteriorated. The patient developed gasping respiration, ventricular fibrillation, and died. During autopsy and histological investigation cerebral and pulmonary edema were noted together with general congestion of the internal organs. Further observations included contraction bands of myocytes, a contracted spleen, fibrosis of the liver, and gall stones. Toxicological analyses of peripheral blood revealed the following results: amisulpride 4.65 mg/l, biperiden 0.12 mg/l, imipramine 0.33 mg/l, and desipramine 0.68 mg/l. An amisulpride-induced neuroleptic malignant syndrome was therefore diagnosed as the patho-physiological mechanism leading to death.

  6. Refractory status epilepticus due to SMART syndrome.

    Science.gov (United States)

    Jaraba, Sonia; Puig, Oriol; Miró, Júlia; Velasco, Roser; Castañer, Sara; Rodríguez, Laura; Izquierdo, Cristina; Simó, Marta; Veciana, Misericordia; Falip, Mercè

    2015-08-01

    Stroke-like migraine attacks after radiation therapy (SMART) is a late-onset complication of brain irradiation of unknown physiopathology. Our aim was to present three patients with SMART syndrome who had clinical and neuroimage studies suggestive of status epilepticus. Patient 1. A 69-year-old woman, who was treated with radiation therapy 14 years before her first admission to the Neurology Department, presented with several episodes of headache, speech disturbances, and weakness of left limbs with altered awareness. Patient 2. A 49-year-old man, who was treated with whole brain radiation 20 years before the onset of symptoms, developed some episodes consisting of headache and numbness of the right side of face and right arm; the latest episodes were accompanied by visual disturbances followed by generalized tonic-clonic seizures. Patient 3. A 40-year-old man, who received cranial irradiation 20 years before, suffered three episodes of behavioral disturbance, aphasia, headache, and visual aura followed by left homonymous hemianopia. All three patients suffered seizures mostly with visual aura. Electroencephalography showed interictal epileptiform discharges or focal slowing. Brain magnetic resonance image (MRI), positron emission tomography (PET), or ictal-single-photon emission computed tomography (SPECT) showed focal cortical hyperperfusion. Focal diffusion restriction and focal gadolinium-enhancement were observed on MRI. All patients were treated with antiepileptic drugs, being effective in one of them. One patient needed anesthesic coma, and the other patient responded to therapy with corticosteroids. Taking into account clinical evolution and ictal neuroimaging studies, status epilepticus could explain the origin of these episodes in SMART syndrome. Although most patients have reversible symptoms, in some cases, aggressive treatment to avoid sequelae is needed. This article is part of a Special Issue entitled "Status Epilepticus". Copyright © 2015 Elsevier

  7. Prader-Willi Syndrome: Obesity due to Genomic Imprinting

    National Research Council Canada - National Science Library

    Merlin G. Butler

    2011-01-01

    Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder due to errors in genomic imprinting with loss of imprinted genes that are paternally expressed from the chromosome 15q11-q13 region. Approximately 70...

  8. Clinical predictors of lacunar syndrome not due to lacunar infarction

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    Comes Emili

    2010-05-01

    Full Text Available Background Lacunar syndrome not due to lacunar infarct is poorly characterised. This single centre, retrospective study was conducted to describe the clinical characteristics of patients with lacunar syndrome not due to lacunar infarct and to identify clinical predictors of this variant of lacunar stroke. Methods A total of 146 patients with lacunar syndrome not due to lacunar infarction were included in the "Sagrat Cor Hospital of Barcelona Stroke Registry" during a period of 19 years (1986-2004. Data from stroke patients are entered in the stroke registry following a standardized protocol with 161 items regarding demographics, risk factors, clinical features, laboratory and neuroimaging data, complications and outcome. The characteristics of these 146 patients with lacunar syndrome not due to lacunar infarct were compared with those of the 733 patients with lacunar infarction. Results Lacunar syndrome not due to lacunar infarct accounted for 16.6% (146/879 of all cases of lacunar stroke. Subtypes of lacunar syndromes included pure motor stroke in 63 patients, sensorimotor stroke in 51, pure sensory stroke in 14, atypical lacunar syndrome in 9, ataxic hemiparesis in 5 and dysarthria-clumsy hand in 4. Valvular heart disease, atrial fibrillation, sudden onset, limb weakness and sensory symptoms were significantly more frequent among patients with lacunar syndrome not due to lacunar infarct than in those with lacunar infarction, whereas diabetes was less frequent. In the multivariate analysis, atrial fibrillation (OR = 4.62, sensorimotor stroke (OR = 4.05, limb weakness (OR = 2.09, sudden onset (OR = 2.06 and age (OR = 0.96 were independent predictors of lacunar syndrome not due to lacunar infarct. Conclusions Although lacunar syndromes are highly suggestive of small deep cerebral infarctions, lacunar syndromes not due to lacunar infarcts are found in 16.6% of cases. The presence of sensorimotor stroke, limb weakness and sudden onset in a patient

  9. 76 FR 48898 - Robert Leigh Kale, M.D., Decision and Order

    Science.gov (United States)

    2011-08-09

    ... Enforcement Administration Robert Leigh Kale, M.D., Decision and Order On September 9, 2010, the Deputy... Show Cause to Robert Leigh Kale, M.D. (Registrant), of Fort Smith, Arkansas. ] The Show Cause Order....100(b) and 0.104, I order that DEA Certificate of Registration, BK9514375, issued to Robert Leigh...

  10. 线粒体DNA G13513A突变所致线粒体脑肌病伴高乳酸血症和脑卒中样发作/Leigh重叠综合征%Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes/Leigh overlap syndrome caused by mutation of mitochondrial DNA G13513A

    Institute of Scientific and Technical Information of China (English)

    韩漫夫; 白润涛; 冯宏业; 陶唯宜; 王朝霞; 袁云

    2009-01-01

    Objective To describe the chnical, neuroimagine, pathological and genetic features in a case with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)/Leigh overlap syndrome.Methods The ease was a 22-year-old woman with recurrent headache, loss of visual acuity and general seizures over 11 years.MRI demonstrated symmetrical high T2-weighted signals in occipital and parietal lobes, in the late stage of the disease, the above imagine changes on MRJ were also shown in the bilateral basal ganglion and brainstem.She died of status epilepticus at age of 22.Brain autopsy and mitochondrial DNA (mtDNA) analysis were performed in the patient.Results The main neuropathological findings were muhifocal and lamilar spongiform in the cortex of the whole brain, the basal ganglion and middle brain.Gliosis, macrophagie reaction and capillary endothelial proliferation were observed in these areas.All 6 layers of the cortex and subcortical white matter in occipital and parietal lobes were severely affected.GI3513A mutation was found in the gene of mitochondria encoded NADH dehydrogenase subunit 5 (MTNDS).Conclusions MELAS/Leigh overlap syndrome presents the symptoms predominantly affecting the cerebral cortex.Neuroimagines suggested that the lesion initially involves the cerebral cortex and in the late stage implicates the basal ganglion and the brainstem, possibly caused by pathological changes of spongiform with capillary proliferation in these areas.%目的 报道1例线粒体DNA G13513A点突变所致线粒体脑肌病伴高乳酸血症和脑卒中样发作(MELAS)/Leigh重叠综合征的临床、影像学、神经病理学改变特点.方法 患者为22岁女性,反复出现头痛、视力下降和肢体抽动11年,因癫疴持续状态而死亡.之前多次MRI检查发现大脑皮质大片长T1长T2异常信号,病灶从枕叶开始,逐渐波及顶叶,疾病后期累及双侧基底节区及脑干灰质核团.对患者进行脑局部尸体解

  11. Unilateral glossodynia due to Eagle’s syndrome. Case report

    Directory of Open Access Journals (Sweden)

    Vasilis Petsinis, Nadia Theologie-Lygidakis, Ioannis Iatrou

    2010-04-01

    Full Text Available Eagle's syndrome represents a variety of craniofacial or neck symptoms caused by the elongation of the styloid process or the calcification of the stylomandibular ligament. It presents mainly with pain or the sense of a pharyngeal foreign body. In cases of unilateral glossodynia Eagle's syndrome must be included in differential diagnosis. The surgical removal of the styloid process can be performed through an intraoral or extraoral approach with very good results. The aim of this paper is to present a case of a 57-year-old female patient suffering for twelve months of persistent unilateral glossodynia due to Eagle's syndrome. 3D Computer tomography scan revealed elongation of both styloid processes, and the diagnosis of Eagle's syndrome was set. Trough an intraoral approach, the 4 cm long right styloid process was removed. The patient was completely relieved from the symptoms right after surgery, without any postoperative morbidity.

  12. AN INTERESTING CASE OF STROKE DUE TO EAGLE SYNDROME

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    Anil Kumar

    2014-06-01

    Full Text Available Eagle Syndrome (ES is a rare syndrome characterized by a specific orofacial pain due to a calcified stylohyoid ligament or an elongated styloid process. The ‘Classic’ Eagle Syndrome typically occurs after pharyngeal trauma or tonsillectomy. The second form, ‘Stylocarotid Syndrome’ is characterized by compression of internal or external carotid artery. Here, we present a case of acute dysphagia in a 48years old male due to Eagle Syndrome. The patient presented with acute onset dysphagia of 1 week duration to both solid and liquid foods, associated with odynophagia and pain in the right oropharynx. Patient had a past history of left hemiparesis with facial palsy due to right sided cerebrovascular accident (CVA 3years ago, which had subsequently improved. Patient was investigated with Barium swallow, X-ray skull lateral view, MR Angiogram of neck and brain, Carotid Doppler study and finally Orthopantomogram (OPG. OPG showed an elongated styloid process measuring 3.8cms on the right side. Incidentally, MR Angiogram of neck and brain showed absent intracranial part of internal carotid artery on the right side (the main stem of the artery, starting from 2mms from the common carotid bifurcation until the junction with anterior cerebral artery was missing.Rest all investigations were normal. Hence, the case was diagnosed as right sided Eagle syndrome, possibly of the stylocarotid variety

  13. Heterochromia iridis and Horner's syndrome due to paravertebral neurilemmoma.

    Science.gov (United States)

    Sayed, A K; Miller, B A; Lack, E E; Sallan, S E; Levey, R H

    1983-01-01

    A case of heterochromia iridis and Horner's syndrome is reported in a 7-year old girl with paravertebral neurilemmoma. These clinical findings can be useful in the early diagnosis of mediastinal tumors in the paravertebral axis. While typically associated with neuroblastoma, these findings can be due to tumors which are inately benign--in this case neurilemmoma. The mechanism for heterochromia is briefly discussed.

  14. A Case with Repeated Recurrent Acute Coronary Syndrome due to Pseudoephedrine Use: Kounis Syndrome

    Directory of Open Access Journals (Sweden)

    Metin Çeliker

    2014-01-01

    Full Text Available Allergic reaction-associated acute coronary syndrome picture is defined as Kounis syndrome. Although drug use is the most common cause of allergic reaction, foods and environmental factors may also play a role in the etiology. Herein, a case with acute coronary syndrome that developed two times at 8-month interval due to pseudoephedrine use for upper respiratory tract infection is presented.

  15. Anton's syndrome due to cerebrovascular disease: a case report

    Directory of Open Access Journals (Sweden)

    Maddula Mohana

    2009-09-01

    Full Text Available Abstract Introduction Anton's syndrome describes the condition in which patients deny their blindness despite objective evidence of visual loss, and moreover confabulate to support their stance. It is a rare extension of cortical blindness in which, in addition to the injury to the occipital cortex, other cortical centres are also affected, with patients typically behaving as if they were sighted. Case presentation We present a case report of an 83-year-old white woman with cortical blindness as a result of bilateral occipital lobe infarcts. Despite her obvious blindness, illustrated by her walking into objects, the patient expressed denial of visual loss and demonstrated confabulation in her accounts of her surroundings, consistent with a diagnosis of Anton's syndrome. Conclusions A suspicion of cortical blindness and Anton's syndrome should be considered in patients with atypical visual loss and evidence of occipital lobe injury. Cerebrovascular disease is the most common cause of Anton's syndrome, as in our patient. However, any condition that may result in cortical blindness can potentially lead to Anton's syndrome. Recovery of visual function will depend on the underlying aetiology, with cases due to occipital lobe infarction after cerebrovascular events being less likely to result in complete recovery. Management in these circumstances should accordingly focus on secondary prevention and rehabilitation.

  16. A CLINICORADIOLOGICAL STUDY OF MIDDLE LOBE SYNDROME DUE TO TUBERCULOSIS

    Directory of Open Access Journals (Sweden)

    Saurabh Karmakar

    2016-09-01

    Full Text Available BACKGROUND Although pulmonary tuberculosis is a common disease in India, tuberculosis of right middle lobe is infrequent. Tuberculosis of the right middle lobe leading to chronic collapse is a cause of Right Middle Lobe syndrome. METHODS The patients attended Pulmonary Medicine Outdoor at Era’s Lucknow Medical College, Lucknow from April 2015 to March 2016. The purpose of this study is to describe the clinicoradiological features of patients of middle lobe syndrome due to tuberculosis. All patients presented with cough with or without expectoration, fever, chest pain, haemoptysis and constitutional symptoms like loss of appetite and weight. Chest X-ray PA view revealed ill-defined opacity abutting the right cardiac border. HRCT thorax was done in each case. The diagnosis of tuberculous aetiology was based on (1 History of chronic cough and fever, not responding to antibiotic therapy and constitutional symptoms, (2 A positive tuberculin test using 2 TU of PPD RT 23 and (3 Detection of acid fast bacilli by direct smear or Mycobacterium tuberculosis by polymerase chain reaction in bronchoalveolar lavage. RESULTS Out of 10 patients, 4 (40% were males and 6 (60% were females. The mean ages of the males were 55.8 years and females were 60.8 years and overall mean age was 59 years. Most of the patients were females and belonged to the middle age and old age group. ATT was started in all the patients. CONCLUSIONS Right middle lobe syndrome predominantly affects the older population and the female gender. Although tuberculosis is a common disease in India, Middle Lobe Syndrome is a very rare presentation of the disease. Due to non-specific symptoms and usually normal chest X-ray PA view in Right Middle Lobe Syndrome, we should keep a high index of suspicion to diagnose the condition.

  17. Sudden death due to Eagle syndrome: a case report.

    Science.gov (United States)

    Kumar, Pradeep; Rayamane, Anand P; Subbaramaiah, Mouna

    2013-09-01

    Eagle syndrome represents symptoms manifested by compression of regional structures by elongation of the styloid process or ossification of the stylohyoid membrane. Various theories have been put forward toward the development of Eagle syndrome. Depending on the underlying pathogenetic mechanism and the anatomical structures compressed or irritated by the elongated styloid process, symptoms vary greatly, ranging from cervicofacial pain to cerebral ischemia. Because the symptoms are variable and nonspecific, patients land up in different clinics for treatment. In the present case, the victim had previous episode of unconsciousness along with frequent headache for which she visited various clinics on numerous occasions. The elongated styloid process was appreciated during the postmortem examination, and the diagnosis of sudden death due to mechanical irritation of the carotid sinus by elongated styloid process was made as the sign of acute cardiovascular failure was present and upon exclusion of other causes of death.

  18. Flushing syndrome due to mahimahi (scombroid fish) poisoning.

    Science.gov (United States)

    Kim, R

    1979-08-01

    Scombroid fish poisoning, one of the most common adverse reactions to fish, is also probably one of the most common causes of a flushing syndrome. The reaction usually involves fishes of the Scombridae family but, in Hawaii, the reaction is most often due to mahimahi (Coryphaena hippurus). Onset of the reaction is usually abrupt and commonly associated with a prominent flush resembling a sunburn. Headache, tachye to a toxin with histamine-like properties, which is formed because improper refrigeration enables endogenous bacteria to decarboxylate histidine normally present in dark-meat fishes. Symptoms are usually promptly relieved by parenteral antihistamine therapy.

  19. Orbital apex syndrome due to aspergillosis: case report

    Directory of Open Access Journals (Sweden)

    Fernandes Yvens B.

    2001-01-01

    Full Text Available We report the case of a 73-year-old female who presented facial numbness and pain in the first division of the trigeminal nerve, ptosis, diplopia and visual loss on the right side for the previous four months. The neurological, radiological and histological examination demonstrated a rare case of invasive fungal aspergillosis of the central nervous system, causing orbital apex syndrome, later transformed in temporal brain abscess. She died ten months later due to respiratory and renal failure in spite of specific antimycotic therapy.

  20. A note on perturbative aspects of Leigh-Strassler deformed N=4 SYM theory

    CERN Document Server

    Madhu, Kallingalthodi

    2007-01-01

    We carry out a perturbative study of the Leigh-Strassler deformed N=4 SYM theory in order to verify that the trihedral Delta(27) symmetry holds in the quantum theory. We show that the Delta(27) symmetry is preserved to two loops (at finite N) by explicitly computing the superpotential. The perturbative superpotential is not holomorphic in the couplings due to finite contributions. However, there exist coupling constant redefinitions that restore holomorphy. Interestingly, the same redefinitions appear (in the work of Jack, Jones and North[hep-ph/9603386]) if one requires the three-loop anomalous dimension to vanish in a theory where the one-loop anomalous dimension vanishes. However, the two field redefinitions seem to differ by a factor of two.

  1. Poorly Controlled Congenital Hypothyroidism due to an Underlying Allgrove Syndrome

    Science.gov (United States)

    van Tellingen, V.; Finken, M.J.J.; Israëls, J.; Hendriks, Y.M.C.; Kamp, G.A.; van Santen, H.M.

    2016-01-01

    Background Congenital hypothyroidism of thyroidal origin (CHT) is a common disorder in pediatric endocrinology practices, which can be difficult to manage. Elevated thyrotropin (TSH) concentrations are in the great majority of cases explained by poor compliance to levothyroxine therapy. Methods Case description. Results We present a boy with CHT, with 2 heterozygous mutations in the TSH receptor gene, who showed persistently elevated TSH concentrations and psychomotor retardation, initially misinterpreted as malcompliance. At the age of 4 years, he was diagnosed with adrenal insufficiency, wherefore a broad diagnostic search was initiated. After the start of glucocorticoid replacement therapy, his TSH normalized and the levothyroxine could be lowered. At the age of 6 years, his TSH increased again, this time caused by malabsorption of levothyroxine due to esophageal achalasia. In retrospect, alacrima was also present and the diagnosis of Allgrove syndrome was genetically confirmed. The CHT was considered a separate disease entity. Conclusions In case of persistently elevated TSH levels in children with CHT, causes other than noncompliance must be considered. Second, in establishing the cause of adrenal insufficiency, specific symptoms, such as alacrima, are easily overlooked. Third, Allgrove syndrome is a rare disorder, in which diagnostic delay can lead to potentially life-threatening complications. PMID:27255745

  2. Acute adrenal insufficiency due to primary antiphospholipid antibody syndrome

    Directory of Open Access Journals (Sweden)

    Kishore Kumar Behera

    2013-01-01

    Full Text Available Introduction: We report a case of acute adrenal insufficiency (AAI in a patient with antiphospholipid syndrome (APS. Case Report: A 44-year-old female patient presented to us with acute abdominal pain associated with recurrent vomiting and giddiness. On examination, her blood pressure was 80/50 mm Hg. Systemic examination was normal. Further evaluation revealed hypocortisolemia with elevated plasma adrenocorticotropin hormone indicative of primary adrenal insufficiency. Her abdominal computed tomography scan showed features of evolving bilateral adrenal infarction. Etiological work-up revealed prolonged activated thromboplastin time, which didn′t correct with normal plasma, her anti-cardiolipin antibody and lupus anticoagulant were also positive. She was diagnosed to have APS with adrenal insufficiency and she was started on intravenous steroids and heparin infusion. Conclusion: AAI due to the APS can present with acute abdominal pain followed by hypotension. A high index of suspicion is needed to make the correct diagnosis and to initiate appropriate treatment.

  3. Neuroleptic malignant syndrome due to risperidone misdiagnosed as status epilepticus

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    Ali Ertug Arslankoylu

    2011-06-01

    Full Text Available Neuroleptic malignant syndrome (NMS is a rare but potentially fatal disease characterized by fever, muscle rigidity, delirium and autonomic instability. Here we report a child, with NMS due to the risperidone misdiagnosed as status epilepticus. Nine year old boy, who had been under high dose risperidone treatment for 8 weeks, admitted to the emergency room because of the contractions (evaluated as status epilepticus persisting for 7 hours. Since there was neuroleptic treatment in the past medical history and, unconsciousness, muscular rigidity, diaphoresis, hypertermi and, hypotension in physical examination, leucocytosis and elevated creatininphosphokinase levels in laboratory tests, the patient was evaluated as NMS and discharged without any complications. We reported this case to point out that; NMS may be misdiagnosed as status epilepticus in children when EEG monitoring is unavailable. When a child admitted to the emergency room because of suspicious convulsion neuroleptic drug use must surely be asked.

  4. An interesting case of Leigh-like syndrome

    Directory of Open Access Journals (Sweden)

    K Bharani

    2012-01-01

    Full Text Available A 12-year-old female child with motor developmental delay presented with persistent vomiting, recurrent falls and unsteadiness in dark since 2 years of age. There was decline in scholastic performance, bulbar symptoms and aggravation of symptoms during intercurrent illness. Clinically, she had frontal and parietal lobar dysfunction, dysarthria, optic atrophy and LMN VII, IX, X, XII cranial nerve involvement. There was generalized hypotonia, distal muscle wasting, weakness, cerebellar signs and impaired vibration/position sense in distal extremities. Biochemical investigations revealed elevated serum/cerebrospinal fluid (CSF lactate and CSF lactate pyruvate ratio. Neuroimaging demonstrated bilateral symmetrical T2 hyperintensities in basal ganglia, subcortical white matter, cerebellar hemispheres and posterior aspect of spinal cord. As certain atypical features like bilateral symmetrical T2 hyperintensities in subcortical white matter were also seen, metachromatic leukodystrophy was considered in differential diagnosis but ruled out by nerve biopsy. This case is reported for the presence of atypical neuroimaging features that are rarely found in Leigh′s disease.

  5. Patrick Leigh Fermor’s “Hellen-Romaic Dilemma”

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    Przemysław Kordos

    2015-07-01

    The article discusses one of the guises of the dichotomy between Hellene and Romios, a trope popular among researchers of modern Greek identity. It discusses the provenance and usage of both notions, drawing on the material presented by the English traveller and writer Patrick Leigh Fermor in his monograph Roumeli Travels in Northern Greece (1966. Fermor identified 64 opposing pairs of concepts and situations, and demonstrated the characteristics of Hellene and Romios in relation to each pair. This comparison produces the images of the logical, westernised Hellene, who reveres the accomplishments of ancient Greeks, and the spontaneous, oriental, somewhat backwards Romios, who longs for Byzantium. Although the picture Fermor paints is exaggerated (and slightly whimsical, it nevertheless helps to understand that the image of Hellene, and not that of Romios, is one in which modern Greeks believe and for which they strive. Patricka Leigh Fermora rozterki helleńsko-romejskie Autor omawia jedno z ujęć dychotomii między Hellenem a Romiosem, popularnej w badaniach nad nowogrecką tożsamością. Ukazuje proweniencję i sposób użycia obu pojęć, posługując się materiałem zaprezentowanym przez angielskiego pisarza i podróżnika, Patricka Leigh Fermora, w jego monografii Roumeli Travels in Northern Greece (wyd. 1966. Fermor wyróżnił 64 pary koncepcji i sytuacji, pokazując jak w obrębie każdej z nich funkcjonuje Hellen oraz Romios. Z porównania wyłania się obraz logicznego, zwesternizowanego Hellena, zapatrzonego w dokonania starożytnych Greków oraz spontanicznego, orientalnego, nieco zacofanego Romiosa, który tęskni za Bizancjum. Choć obraz naszkicowany przez Fermora jest przejaskrawiony (oraz nieco żartobliwy, to jednak pomaga zrozumieć, że to obraz Hellena, a nie Romiosa, jest tym, w który wierzą i do którego dążą współcześni Grecy.

  6. Deaths Due to Choking in Prader-Willli Syndrome

    OpenAIRE

    Stevenson, David A.; Heinemann, Janalee; Angulo, Moris; Merlin G. Butler; Loker, Jim; Rupe, Norma; Kendell, Patrick; Clericuzio, Carol L; Scheimann, Ann O

    2007-01-01

    Prader-Willi syndrome (PWS) is the most common known syndromic cause of life threatening obesity, yet few studies have examined the causes of death in PWS. The objective of this study was to examine the contribution of choking leading to mortality in PWS. In 1999, a brief survey was made available from the Prader-Willi Syndrome Association (USA) bereavement program, which documented demographic data and causes of death. Families were subsequently offered the opportunity to fill out a detailed...

  7. Cubital Tunnel Syndrome Due to Synovial Cyst: A Case Report

    Directory of Open Access Journals (Sweden)

    Zahir Kizilay

    2016-02-01

    Full Text Available We report a rare case of ulnar nerve entrapment caused by a synovial cyst derived from the left elbow joint. A 57-year-old male patient with a seven-month history of pain in his left elbow and a progressive and increasing numbness and weakness complaints in his left hand came to our clinic. Weakness and sensory loss of the 4th and 5th fingers were determined in neurological examination. The results of Tinel’s sign and Phalen’s Test were positive, especially when his left elbow was flexed. In electromyelography, axonal damage and entrapment neuropathy were determined in the left cubital tunnel area. Total excision of the synovial cyst and ulnar nerve anterior subcutaneous transposition were performed in surgical treatment. The patient’s pain decreased immediately after the surgery. In this report, we have discussed the pathopysiology of cubital tunnel syndrome due to synovial cyst and which surgical technique may be suitable as our case report.

  8. Turner syndrome with spinal hemorrhage due to vascular malformation.

    Science.gov (United States)

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

    2015-12-01

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

  9. [The Durkheim Test. Remarks on Susan Leigh Star's Boundary Objects].

    Science.gov (United States)

    Gießmann, Sebastian

    2015-09-01

    The article reconstructs Susan Leigh Star's conceptual work on the notion of 'boundary objects'. It traces the emergence of the concept, beginning with her PhD thesis and its publication as Regions of the Mind in 1989. 'Boundary objects' attempt to represent the distributed, multifold nature of scientific work and its mediations between different 'social worlds'. Being addressed to several 'communities of practice', the term responded to questions from Distributed Artificial Intelligence in Computer Science, Workplace Studies and Computer Supported Cooperative Work (CSCW), and microhistorical approaches inside the growing Science and Technology Studies. Yet the interdisciplinary character and interpretive flexibility of Star’s invention has rarely been noticed as a conceptual tool for media theory. I therefore propose to reconsider Star's 'Durkheim test' for sociotechnical media practices.

  10. Iatrogenic Cushing's Syndrome Due to Topical Ocular Glucocorticoid Treatment.

    Science.gov (United States)

    Fukuhara, Daisuke; Takiura, Toshihiko; Keino, Hiroshi; Okada, Annabelle A; Yan, Kunimasa

    2017-02-01

    Iatrogenic Cushing's syndrome (CS) is a severe adverse effect of systemic glucocorticoid (GC) therapy in children, but is extremely rare in the setting of topical ocular GC therapy. In this article, we report the case of a 9-year-old girl suffering from idiopathic uveitis who developed CS due to topical ocular GC treatment. She was referred to the ophthalmology department with a complaint of painful eyes, at which time she was diagnosed with bilateral iridocyclitis and started on a treatment of betamethasone sodium phosphate eye drops. Six months after the initiation of topical ocular GC treatment, she was referred to our pediatric department with stunted growth, truncal obesity, purple skin striate, buffalo hump, and moon face. Because her serum cortisol and plasma adrenocorticotropic hormone levels were undetectable, she was diagnosed with iatrogenic CS. After the doses of topical ocular GC were reduced, the clinical symptoms of CS were improved. The fact that the amount of topical ocular GC with our patient was apparently less than that of similar previous cases tempted us to perform genetic analysis of her NR3C1 gene. We found that our patient had a single heterozygous nucleotide substitution in the 3' untranslated region of the NR3C1 gene, which may explain why she developed CS. However, additional investigations are required to determine if our findings can be extrapolated to other patients. In conclusion, clinicians should be aware that even extremely low doses of topical ocular steroid therapy can cause iatrogenic CS. Copyright © 2017 by the American Academy of Pediatrics.

  11. Renal dysfunction due to hydronephrosis by SAPHO syndrome: a case report

    OpenAIRE

    Kakoki, Katsura; Miyata, Yasuyoshi; Enokizono, Mikako; Uetani, Masataka; Sakai , Hideki

    2015-01-01

    Key Clinical Message Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO) syndrome shows varied pathological symptoms. This is the first report of hydronephrosis due to the mechanical compression of bilateral ureters as a result of SAPHO syndrome. From our experience, MRI is the most useful imaging examination to check the upper urinary tract in SAPHO syndrome.

  12. Renal dysfunction due to hydronephrosis by SAPHO syndrome: a case report.

    Science.gov (United States)

    Kakoki, Katsura; Miyata, Yasuyoshi; Enokizono, Mikako; Uetani, Masataka; Sakai, Hideki

    2015-08-01

    Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO) syndrome shows varied pathological symptoms. This is the first report of hydronephrosis due to the mechanical compression of bilateral ureters as a result of SAPHO syndrome. From our experience, MRI is the most useful imaging examination to check the upper urinary tract in SAPHO syndrome.

  13. [Syncope due to parapharyngeal space lesions syncope-syndrome].

    Science.gov (United States)

    Córdoba López, A; Torrico Román, P; Inmaculada Bueno Alvarez-Arenas, M; Monterrubio Villar, J; Corcho Sánchez, G

    2001-05-01

    The clinic association between tumors in the neck and syncopal attacks has been well documented but uncommon. The pathogenesis of this type of syncope has been attributed to an specific sinus node disfunction and several diseases that affect pacemaker activity, cardiac output and blood supply to the brain are able to produce it. The most common reflex cardiovascular sindromes linked to the IX nerve are carotid sinus syndrome and glossopharyngeal neuralgia-asystole syndrome. Some patients with a pathological involvement of the parapharyngeal space also suffers from syncope but the clinical picture of these patients differs so greatly from the other two syndromes, which suggests specific aetiological, clinical and therapeutical features so the term "parapharyngeal space lesiones syncope-syndrome" has been proposed for this entity. We report a case of a patient with a neck tumor in the parapharyngeal space with syncope as the major symptom.

  14. Cyclical Cushing's syndrome due to an atypical thymic carcinoid

    NARCIS (Netherlands)

    Meinardi, [No Value; van den Berg, G; Wolffenbuttel, BHR; Kema, IP; Dullaart, RPF

    A 43-year-old man presented with fluctuating symptoms of weight gain, shortness of breath, pretibial oedema, associated with anxiety and memory disturbances. Laboratory investigation revealed an adrenocorticotropin (ACTH)-dependent cyclical Cushing's syndrome characterised by remarkable variations

  15. Placenta accreta: adherent placenta due to Asherman syndrome

    DEFF Research Database (Denmark)

    Engelbrechtsen, Line; Langhoff-Roos, Jens; Kjer, Jens Jørgen

    2015-01-01

    It is important to be aware of the risk of abnormally invasive placenta in patients with a history of Asherman syndrome and uterine scarring. A prenatal diagnosis by ultrasonography is useful when planning of mode of delivery.......It is important to be aware of the risk of abnormally invasive placenta in patients with a history of Asherman syndrome and uterine scarring. A prenatal diagnosis by ultrasonography is useful when planning of mode of delivery....

  16. RRH: envenoming syndrome due to 200 stings from Africanized honeybees

    Directory of Open Access Journals (Sweden)

    Guilherme Almeida Rosa da Silva

    2013-02-01

    Full Text Available Envenoming syndrome from Africanized bee stings is a toxic syndrome caused by the inoculation of large amounts of venom from multiple bee stings, generally more than five hundred. The incidence of severe toxicity from Africanized bee stings is rare but deadly. This report reveals that because of the small volume of distribution, having fewer stings does not exempt a patient from experiencing an unfavorable outcome, particularly in children, elderly people or underweight people.

  17. Treatment of Atypical Compartment Syndrome Due to Proteus Infection.

    Science.gov (United States)

    Stull, Justin; Bhat, Suneel; Miller, Andrew J; Hoffman, Ryan; Wang, Mark L

    2017-01-01

    Compartment syndrome is an orthopedic emergency with a multitude of etiologies. Although it is most commonly associated with trauma to the extremity, hematoma and infection are 2 rare etiologies of insidious compartment syndrome. Proteus mirabilis is an opportunistic gram-negative species that can infect the respiratory tract, urinary tract, and open wounds. The authors present the case of a 69-year-old woman who developed tissue necrosis and compartment syndrome secondary to an untreated hematoma infected by P mirabilis. This case involves an atypical presentation caused by an untreated infected hematoma, emphasizing the need for a high index of suspicion. Current literature supports immediate surgical intervention in the clinical scenario of fulminant compartment syndrome, regardless of compartment pressure findings. The probability of compartment syndrome in the patient presenting with pain, paresthesias, paresis, and pain with passive stretch, all of which were positive findings in this patient, has been reported to be 98%. Thus, Doppler evaluation and intercompartmental pressures were considered but forgone to expedite operative treatment. Emergent 4-compartment fasciotomies, with excision and debridement of nonviable tissue, are potentially limb-saving procedures, intended to limit loss of function and obviate the need for lower extremity amputation. The decision was made to perform a dual-incision fasciotomy to avoid contamination of the uninvolved compartments with a standard single-incision approach. To date, this represents the first report in the English literature of the insidious onset of tissue necrosis secondary to a Proteus-infected hematoma, highlighting a unique etiology of atypical compartment syndrome. [Orthopedics. 2017; 40(1):e176-e178.]. Copyright 2016, SLACK Incorporated.

  18. Role of Infection Due to Campylobacter jejuni in the Initiation of Guillain-Barre Syndrome

    Science.gov (United States)

    1993-01-01

    Initiation of Guillain - Barre Syndrome 90PP0820 Ban Mishu and Martin J. Blaser Veterans Administration Medical Center 93-26165 Research Service 1310 24th...Unlimited Best Available Copy 104 Role of Infection Due to Campylobacterjejuni in the Initiation of Guillain - Barre Syndrome Ban Mishu and Martin J. Blaser...may cause Guillain -Barrk syndrome (GBS) by triggering demyelination of peripheral nerves. GBS is preceded by an acute infectious illness (due to a

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

    Science.gov (United States)

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

    2015-09-01

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

  20. West syndrome due to vitamin B12 deficiency.

    Science.gov (United States)

    Serin, Hepsen Mine; Kara, Aslıhan Oruçoğlu; Oğuz, Baran

    2015-12-01

    Vitamin B12 is one of the essential vitamins affecting various systems of the body. Vitamin B12 deficiency in infants often produces haematological and neurological deficits including macrocyticanaemia, neurodevelopmental delay or regression, irritability, weakness, hypotonia, ataxia, apathy, tremor andseizures. In this article, we report the case of a six-month-old male patient diagnosed with West syndrome associated with vitamin B12 deficiency. Although the patient had no evidence of macrocytic anemia in complete blood count, we measured the level of vitamin B12 because the patient had hypotonicity and found it to be low. No other problem was found in the other investigations directed to the etiology of West syndrome. He was being exclusively breast-fed and vitamin B12 deficiency was related with nutritional inadequacy of his mother. Vitamin B12 deficiency should be considered in the differential diagnosis of patients presenting with different neurological findings. In addition, vitamin B12 deficiency should be considered as a rare cause in West syndrome which has a heterogeneous etiology.

  1. Deaths Due to Choking in Prader-Willli Syndrome

    Science.gov (United States)

    Stevenson, David A.; Heinemann, Janalee; Angulo, Moris; Butler, Merlin G.; Loker, Jim; Rupe, Norma; Kendell, Patrick; Clericuzio, Carol L.; Scheimann, Ann O.

    2011-01-01

    Prader-Willi syndrome (PWS) is the most common known syndromic cause of life threatening obesity, yet few studies have examined the causes of death in PWS. The objective of this study was to examine the contribution of choking leading to mortality in PWS. In 1999, a brief survey was made available from the Prader-Willi Syndrome Association (USA) bereavement program, which documented demographic data and causes of death. Families were subsequently offered the opportunity to fill out a detailed questionnaire and additional forms to release medical records. Demographic information was available on 178 deceased individuals with PWS, and cause of death available on 152 individuals. Fifty-four families completed questionnaires. Of the deceased individuals with completed questionnaires, 34% reported a history of choking. Choking was listed by familial report as the cause of death in 12 (7.9%) of 152 subjects with an average age of 24 years (range 3–52y; median 22.5y) at death from choking. Only two of these individuals were less than eight years of age. The data suggest that risks associated with choking are different in the PWS population compared with normal. Potential causes of increased choking in PWS include poor oral/motor coordination, poor gag reflex, hypotonia, hyperphagia, decreased mastication and voracious feeding habits. We recommend implementation of preventive measures and education for families and group home care providers for all individuals with PWS including the Heimlich maneuver, supervised meals, better food preparation and diet modification to avoid high risk choking items. PMID:17036318

  2. Hypercalcemic encephalopathy due to milk alkali syndrome and injection teriparatide

    Directory of Open Access Journals (Sweden)

    Sandeep Kharb

    2012-01-01

    Full Text Available An 82-year-old male, a known case of severe osteoporosis with vertebral fracture and prostatic carcinoma, was treated with gonadotropin releasing hormone analogue, calcium carbonate, cholecalciferol sachet and injection teriparatide. His diet consisted of milk and curd. He developed altered behavior and generalized weakness, and on investigation, hypercalcemia, hypokalemia, and metabolic alkalosis with low parathyroid hormone levels were detected. Injection teriparatide was stopped and he was managed with forced saline diuresis and injection zoledronic acid. He was diagnosed as a case of milk alkali syndrome in whom teriparatide and prolonged immobilization played a permissive role in the development of hypercalcemic encephalopathy.

  3. Syndrome of inappropriate secretion of antidiuretic hormone due to desvenlafaxine.

    Science.gov (United States)

    Lee, Gary tin-ho; Leung, Jess lam-ming

    2013-01-01

    Hyponatremia secondary to the syndrome of inappropriate secretion of antidiuretic hormone (SIADH) is not uncommon in patients receiving treatment of selective serotonin reuptake inhibitors or venlafaxine. This is a case report of a 47-year-old man with depression, who developed hyponatremia after commencing treatment with desvenlafaxine. To our knowledge, this is the first case in which desvenlafaxine-associated SIADH was reported since the introduction of the drug. Physicians should be aware of the possibility of desvenlafaxine-associated hyponatremia in patients under age of 65. Copyright © 2013 Elsevier Inc. All rights reserved.

  4. Junctional chiasmatic syndrome due to large anterior communicating artery aneurysm

    Directory of Open Access Journals (Sweden)

    Maruthi Kesani

    2017-01-01

    Full Text Available Even though aneurysm involving the anterior communicating artery (A Com A was common in clinical practice, producing compressive symptoms such as visual loss was rare. We report a case, in which patient had gradually progressive visual loss with features of the junctional chiasmatic syndrome, imaging revealed partially thrombosed large A Com A aneurysm. Intraoperatively, aneurysm was found compressing the optic chiasm and right optic nerve, following clipping and decompression of the optic nerve and chiasm there was gradually improvement in the vision over 2 weeks postoperatively.

  5. Kidney Failure Due to Abdominal Compartment Syndrome Following Snakebite.

    Science.gov (United States)

    Jalalzadeh, Mojgan; Ghadiani, Mohammad Hassan

    2017-01-01

    Treatment of snakebite complications is challenging, as it is difficult to distinguish what kind of antivenins should be used. Kidney failure as a result of rhabdomyolysis or hemolysis may happen due to accumulated fluids that increase the pressure in the abdomen. This case report describes acute kidney failure probably due to intra-abdominal hypertension following an unknown bite.

  6. Permanent bilateral cortical blindness due to reversible posterior leukoencephalopathy syndrome.

    Science.gov (United States)

    Iwama, Mayumi; Takahashi, Hiroshi; Takagi, Ryo; Hiraoka, Miki

    2011-01-01

    Reversible posterior leukoencephalopathy syndrome (RPLS) is induced by acute cerebral edema. Its symptoms include seizures, headache, altered mental status, and visual disturbances. The clinical and radiological findings are usually transient. This report describes a case of RPLS resulting in bilateral total blindness. A 40-year-old man presented with lethargy and bilateral visual loss. He had a 20-year history of hypertension, but had never been treated. On presentation, the left eye was able to perceive light, but the right eye was not. Radiological examination showed diffuse edema in the brain, and ocular fundus examination revealed severe bilateral hypertensive retinopathy. Antihypertensive therapy improved the patient's general condition, including blood pressure. Radiological findings 5 months later showed resolution of most of the abnormal signal areas. However, total blindness had developed in both eyes by day 15, and two courses of pulsed corticosteroid therapy failed to restore the visual loss.

  7. A case of Stevens-Johnson syndrome due to rifampicin

    Directory of Open Access Journals (Sweden)

    Vandana A. Badar

    2014-02-01

    Full Text Available A 25 year old female known case of category II pulmonary Tuberculosis was on anti-coch’s treatment in the FDC of rifampicin, isoniazid, pyrazinamide, ethambutol and Streptomycin. Fifteen days after the commencement of Cat II anti TB treatment she developed diffuse erythematous rash on face, trunk and both extremities which turned into blisters. There were ulcers on oral and genital cavity. A diagnosis of Stevens Johnson’s syndrome was made. The patient had a history of cat I pulmonary TB and treated for 8 months and at the end of 8th month she was sputum smear negative. Four months later she had a relapse of sputum smear positive for pulmonary TB. She responded to the stoppage of drugs and oral/inj. Corticosteroids, antihistaminics and antibiotics. [Int J Basic Clin Pharmacol 2014; 3(1.000: 239-241

  8. Further patient with Angelman syndrome due to paternal disomy of chromosome 15 and a milder phenotype

    Energy Technology Data Exchange (ETDEWEB)

    Gillessen-Kaesbach, G.; Passarge, E.; Horsthemke, B. [Institut fuer Humangenetik, Essen (Germany)

    1995-04-10

    This {open_quotes}Letter to the Editor{close_quotes} decribes a patient with Angelman syndrome due to paternal uniparental disomy of chromosome 15 and a milder phenotype compared to Angelman syndrome patients with a 15q deletion. 10 refs., 1 fig.

  9. Gait analysis in a mouse model resembling Leigh disease.

    Science.gov (United States)

    de Haas, Ria; Russel, Frans G; Smeitink, Jan A

    2016-01-01

    Leigh disease (LD) is one of the clinical phenotypes of mitochondrial OXPHOS disorders and also known as sub-acute necrotizing encephalomyelopathy. The disease has an incidence of 1 in 77,000 live births. Symptoms typically begin early in life and prognosis for LD patients is poor. Currently, no clinically effective treatments are available. Suitable animal and cellular models are necessary for the understanding of the neuropathology and the development of successful new therapeutic strategies. In this study we used the Ndufs4 knockout (Ndufs4(-/-)) mouse, a model of mitochondrial complex I deficiency. Ndusf4(-/-) mice exhibit progressive neurodegeneration, which closely resemble the human LD phenotype. When dissecting behavioral abnormalities in animal models it is of great importance to apply translational tools that are clinically relevant. To distinguish gait abnormalities in patients, simple walking tests can be assessed, but in animals this is not easy. This study is the first to demonstrate automated CatWalk gait analysis in the Ndufs4(-/-) mouse model. Marked differences were noted between Ndufs4(-/-) and control mice in dynamic, static, coordination and support parameters. Variation of walking speed was significantly increased in Ndufs4(-/-) mice, suggesting hampered and uncoordinated gait. Furthermore, decreased regularity index, increased base of support and changes in support were noted in the Ndufs4(-/-) mice. Here, we report the ability of the CatWalk system to sensitively assess gait abnormalities in Ndufs4(-/-) mice. This objective gait analysis can be of great value for intervention and drug efficacy studies in animal models for mitochondrial disease.

  10. Quadriparesis due to Gitelman′s syndrome diagnosed with thiazide diuretic test response

    Directory of Open Access Journals (Sweden)

    Sumanto Mukhopadhyay

    2016-01-01

    Full Text Available Gitelman′s syndrome is characterized by hypocalciuria, severe hypomagnesemia, and prominent muscular involvements such as fatigue, weakness, cramps, and tetany. It is due to mutations in the thiazide sensitive NaCl co-transporter in the distal convoluted tubule. The administration of thiazide diuretics may induce a subnormal increase of urinary Cl− excretion in patients with Gitelman′s syndrome, consistent with the hypothesis that less than normal Cl− is reabsorbed by the thiazide-inhibitable transporter in Gitelman′s syndrome. Thus, we report a case of Gitelman′s syndrome presenting with quadriparesis diagnosed by using thiazide clearance test.

  11. Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review.

    Science.gov (United States)

    Andrade, Luis Jesuino de Oliveira; Andrade, Rafael; França, Caroline Santos; Bittencourt, Alcina Vinhaes

    2009-01-01

    Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with clinical and genetic heterogeneity. This syndrome was first described by Laurence and Moon in 1866 and additional cases were described by Bardet and Biedl between 1920 and 1922. The main features are obesity, polydactyly, pigmentary retinopathy, learning disabilities, various degrees of intellectual impairment, hypogonadism, and renal abnormalities. Bardet-Biedl syndrome is both phenotypically and genetically heterogeneous. Clinical diagnosis is based on the presence of 4 of the 5 cardinal features. The authors present a typical case of pigmentary retinopathy due to Bardet-Biedl syndrome and made a brief commentary about the disease's cardinal manifestations.

  12. Cushing syndrome in an infant due to cortisol secreting adrenal pheochromocytoma: a rare association.

    Science.gov (United States)

    Kumar, Manish; Kumar, Vishal; Talukdar, B; Mohta, Anup; Khurana, Nita

    2010-06-01

    Adrenocortical tumors are the most common cause of endogenous Cushing syndrome in infancy and early childhood. Cushing syndrome resulting from ectopic adrenocorticotrophic hormone (ACTH) producing tumor has been infrequently reported in adults. Cortisol secreting pheochromocytoma is rarely reported in literature. We report an eleven month old child presenting to us as Cushing syndrome with hypertension due to left adrenal tumor. He was treated with antihypertensives and left adrenalectomy was done under perioperative glucocorticoid coverage. Diagnosis of pheochromocytoma was made only after histopathology. Despite the rare association of Cushing syndrome and pheochromocytoma, preoperative diagnosis of pheochromocytoma is required for appropriate perioperative medical and anaesthetic management to prevent life threatening complications.

  13. Postpartum spontaneous colonic perforation due to antiphospholipid syndrome

    Institute of Scientific and Technical Information of China (English)

    Kamran Ahmed; Amir Darakhshan; Eleanor Au; Munther A Khamashta; Iraklis E Katsoulis

    2009-01-01

    The antiphospholipid syndrome (APS) is a multi-systemic disease being characterized by the presence of antiphospholipid antibodies that involves both arterial and venous systems resulting in arterial or venous thrombosis, fetal loss, thrombocytopenia, leg ulcers, livedo reticularis, chorea,and migraine. We document a previously unreported case of a 37-year-old female in whom APS was first manifested by infarction and cecal perforation following cesarean section. At laparotomy the underlying cause of colonic perforation was not clear and after resection of the affected bowel an ileo-colostomy was performed. The diagnosis of APS was established during post-operative hospital stay and the patient was commenced on warfarin.Eventually, she made a full recovery and had her stoma reversed after 4 mo. Pregnancy poses an increased risk of complications in women with APS and requires a more aggressive approach to the obstetric care. This should include full anticoagulation in the puerperium and frequent doppler ultrasound monitoring of uterine and umbilical arteries to detect complications such as preeclampsia and placental insufficiency.

  14. Pulmonary hypertension due to acute respiratory distress syndrome

    Directory of Open Access Journals (Sweden)

    S.A. Ñamendys-Silva

    2014-10-01

    Full Text Available Our aims were to describe the prevalence of pulmonary hypertension in patients with acute respiratory distress syndrome (ARDS, to characterize their hemodynamic cardiopulmonary profiles, and to correlate these parameters with outcome. All consecutive patients over 16 years of age who were in the intensive care unit with a diagnosis of ARDS and an in situ pulmonary artery catheter for hemodynamic monitoring were studied. Pulmonary hypertension was diagnosed when the mean pulmonary artery pressure was >25 mmHg at rest with a pulmonary artery occlusion pressure or left atrial pressure <15 mmHg. During the study period, 30 of 402 critically ill patients (7.46% who were admitted to the ICU fulfilled the criteria for ARDS. Of the 30 patients with ARDS, 14 met the criteria for pulmonary hypertension, a prevalence of 46.6% (95% CI; 28-66%. The most common cause of ARDS was pneumonia (56.3%. The overall mortality was 36.6% and was similar in patients with and without pulmonary hypertension. Differences in patients' hemodynamic profiles were influenced by the presence of pulmonary hypertension. The levels of positive end-expiratory pressure and peak pressure were higher in patients with pulmonary hypertension, and the PaCO2 was higher in those who died. The level of airway pressure seemed to influence the onset of pulmonary hypertension. Survival was determined by the severity of organ failure at admission to the intensive care unit.

  15. Angelman syndrome due to a novel splicing mutation of the UBE3A gene.

    Science.gov (United States)

    Sartori, Stefano; Anesi, Laura; Polli, Roberta; Toldo, Irene; Casarin, Alberto; Drigo, Paola; Murgia, Alessandra

    2008-08-01

    Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, absence of speech, seizures, abnormal electroencephalography (EEG), and happy disposition. The syndrome results from lack of function of the maternal copy of the UBE3A gene on the imprinted Prader-Willi/Angelman syndrome critical region; it is caused by large deletions, paternal uniparental disomy, imprinting center defects or UBE3A deletions, and point mutations. We found a novel splice-site mutation of the UBE3A gene in a child with clinical and EEG features of Angelman syndrome. This case further points out the fact that individuals with Angelman syndrome and mutations of the UBE3A gene have a phenotype that tends to be rather mild, however, undistinguishable, both from the clinical and the electrophysiological points of view, from the Angelman syndrome phenotype due to other known molecular mechanisms.

  16. Treatment with acarbose in severe hypoglycaemia due to late dumping syndrome.

    Science.gov (United States)

    Wang, Congcong; Pang, Shuguang; Jiang, Qiang; Duan, Guanglan; Sun, Yongmei; Li, Mei

    2013-12-01

    Dumping syndrome is a serious complication that may occur after gastric surgery in approximately 10% of patients in the 1990s. With the increasing number of patients undergoing bariatric surgery, the incidence of dumping syndrome is likely to increase in recent years. It is necessary for clinicians to recognize the syndrome and master its management. We present a case of recurrent loss of consciousness, which was finally accurately diagnosed as late dumping syndrome twelve years after subtotal gastrectomy and successfully treated with acarbose. A 66-year old lean male was found unconscious repeatedly within one year, oral glucose tolerance tests performed before and after acarbose treatment verified the diagnosis of late dumping syndrome. Hypoglycaemia can damage the body in acute and chronic form. Acarbose can be used as a successful treatment modality for reactive hypoglycaemia due to late dumping syndrome by influencing the release of hormone.

  17. [Urolithiasis due to renal tubular acidosis associated with Sjögren's syndrome].

    Science.gov (United States)

    Umekawa, T; Esa, A; Uemura, T; Kohri, K; Kurita, T; Ishikawa, Y; Iguchi, M; Kataoka, K

    1990-03-01

    We encountered 4 patients with urolithiasis due to renal tubular acidosis (RTA) associated with Sjögren's syndrome. Laboratory results about RTA in 4 patients with Sjögrenhs syndrome were not significantly different from those in patients who suffered from urolithiasis due to RTA without Sjögren's syndrome. The incidence of urolitiasis in these cases was suspected to be higher than that in RTA patients without Sjögren's syndrome, because all 4 patients in this study had urolithiasis. When we examine patients with bilateral and multiple urolithiasis, particularly in middle-aged women, we should bear in mind that RTA and Sjögren's syndrome may exist in the background.

  18. Staphylococcal scalded skin syndrome due to burn wound infection.

    Science.gov (United States)

    Farroha, A; Frew, Q; Jabir, S; Dziewulski, P

    2012-09-30

    Introduction. Le syndrome de la peau ébouillantée staphylococcique (sigle anglais conventionnel, SSSS) est une exfoliation aiguë de la peau causée par des toxines A et B. Bien que le Staphylococcus aureus soit une cause fréquente d’infection des brûlures, la SSSS suite à une infection brûlure est rare. Méthode. Les Auteurs ont effectué une revue rétrospective de tous les cas de patients atteints de SSSS hospitalises admis dans un service régional des brûlures entre janvier 2008 et janvier 2012. Résultats. Deux cas de SSSS ont été signalés au cours de cette période qui se sont produits suite à une brûlure. Le premier cas était un garçon de 17 mois qui avait été hospitalisé pour un traitement conservateur pour ébouillantement dans 6% de la surface corporelle totale de profondeur variable. Le quatrième jour, il a développé une exfoliation dans 85% de la surface corporelle. Quant au deuxième cas, il s’agissait d’un garçon de dix mois qui a subi une brûlure de 1% de la surface corporelle et qui a été traité en manière conservatrice dans la communauté par son médecin généraliste. Le cinquième jour, il a développé une exfoliation dans 80% de la surface corporelle. Le Staphylococcus aureus a été isolé qui provenait des brûlures dans les deux cas. Conclusion. Ces deux cas montrent qu’il est essentiel que les brûlologues et les spécialistes des soins intensifs soient au courant de la possibilité de la présence de SSSS chez des patients souffrant de brûlures, avec tous ses potentiels effets dévastateurs.

  19. Painful tic convulsif syndrome due to vertebrobasilar dolichoectasia

    Directory of Open Access Journals (Sweden)

    Puneet Mittal

    2011-01-01

    Full Text Available Combined clinical presentation of hemifacial spasm and ipsilateral trigeminal neuralgia is also known as painful tic convulsif (PTC. It is a rare condition and the most common cause is vascular compression. Vertebrobasilar dolichoectasia (VBD is characterized by dilated and tortuous vertebral and basilar arteries. VBD is an uncommon and rarely reported cause of PTC. Magnetic resonance imaging (MRI, due to its inherent excellent contrast resolution, is an excellent modality for demonstrating the nerve compression by dilated and tortuous vessels seen in this condition. For this purpose, 3D MRI sequences are especially useful like constructive interference in steady state (CISS and MR angiography. Both of these have been reported to be helpful in the diagnosis of this condition. We report a case of PTC in which we were able to document facial and trigeminal nerve compression by VBD on MRI, using CISS and time-of-flight MR angiography.

  20. Acute Compartment Syndrome of the Foot due to Infection After Local Hydrocortisone Injection: A Case Report.

    Science.gov (United States)

    Patil, Sampat Dumbre; Patil, Vaishali Dumbre; Abane, Sachin; Luthra, Rohit; Ranaware, Abhijit

    2015-01-01

    High-energy trauma associated with calcaneal fracture or Lisfranc fracture dislocation and midfoot crushing injuries are known causes of compartment syndrome in the foot. Suppurative infection in the deep osseofascial compartments can also cause compartment syndrome. We describe the case of a 29-year-old female who had developed a suppurative local infection that resulted in acute compartment syndrome after receiving a local hydrocortisone injection for plantar fasciitis. We diagnosed the compartment syndrome, and fasciotomy was promptly undertaken. After more than 2 years of follow-up, she had a satisfactory functional outcome without substantial morbidity. To our knowledge, no other report in the English-language studies has described compartment syndrome due to abscess formation after a local injection of hydrocortisone. The aim of our report was to highlight this rare, but serious, complication of a routine outpatient clinical procedure. Copyright © 2015 American College of Foot and Ankle Surgeons. Published by Elsevier Inc. All rights reserved.

  1. Superior Vena Cava Syndrome due to Thrombosis: A Rare Paraneoplastic Presentation of Bronchogenic Carcinoma

    Directory of Open Access Journals (Sweden)

    Avradip Santra

    2016-07-01

    Full Text Available Superior vena cava (SVC syndrome is not an uncommon occurrence in patients with malignancy and it is often described as a medical emergency. In majority of the cases, SVC syndrome occurs due to mechanical obstruction of the SVC by extraluminal compression with primary intrathoracic malignancies. However, intraluminal obstruction due to thrombosis can also produce symptoms and signs of SVC syndrome. Clot-related SVC obstruction is mostly associated with indwelling central venous catheter and pacemaker leads, although such thrombosis can occur spontaneously in a background of a hypercoagulable state, e.g., malignancy. Here, an unusual case of sudden onset SVC syndrome has been reported, which on initial radiologic evaluation was found to have a lung nodule without any significant mediastinal mass or adenopathy compressing SVC. Subsequent investigation with Doppler ultrasonography of the neck showed thrombosis in the right internal jugular, right subclavian and right brachiocephalic vein, which was responsible for SVC syndrome. Histopathological evaluation of lung nodule confirmed presence of an adenocarcinoma. Therefore, venous thromboembolism as a paraneoplastic syndrome should be kept in mind while evaluating a case of SVC obstruction in a cancer patient. Management of the underlying disease is of prime importance in such cases and anticoagulation is the mainstay of therapy. Ability to identify paraneoplastic syndrome may have a significant effect on clinical outcome, ranging from early diagnosis to improved quality of life of the patient.

  2. Cubital tunnel syndrome due to heterotrophic ossification caused by radial head fracture: A case report

    Directory of Open Access Journals (Sweden)

    Seyitali Gumustas

    2014-04-01

    Full Text Available Compression of the ulnar nerve in the cubital tunnel is the second most common nerve entrapment syndrome in the upper extremity after carpal tunnel syndrome. Although various etiologies have been described, heterotrophic ossification is rarely seen. Heterotrophic ossification should be kept in mind as a cause of ulnar nerve entrapment after elbow trauma. Early diagnosis and surgical intervention are important in such cases before completion of the maturation phase. We report a case of heterotrophic ossification due to elbow trauma that caused cubital tunnel syndrome. [Hand Microsurg 2014; 3(1.000: 24-28

  3. A Case of Primary Hyperparathyroidism Combined with Cushing Syndrome due to Ectopic ACTH Secretion

    Directory of Open Access Journals (Sweden)

    N.T. Rikhsiieva

    2015-03-01

    Full Text Available A rare case of primary hyperparathyroidism (PHPT combined with Cushing syndrome due to ectopic ACTH secretion in 37-year-old women is described. The patient gradually underwent surgeries after compensation of general condition: bilateral parathyroidectomy, in 4 months — removal of carcinoid tumor of the lung. In case of Cushing syndrome or PHPT, the authors recommended to carry out careful examination of patients to exclude MEN-1 and MEN-2 syndromes. In addition, it is necessary to exclude the presence of familial forms of the disease, i.e., it is necessary to carry out a survey of first-degree relatives.

  4. Cushing syndrome due to ectopic adrenocorticotropic hormone secretion in a 3-year-old child.

    Science.gov (United States)

    Matarazzo, Patrizia; Tuli, Gerdi; Tessaris, Daniele; Verna, Francesca; Rabbone, Ivana; Lezo, Antonella; Brunati, Andrea; Salizzoni, Mauro; Carbonaro, Giulia; Terzolo, Massimo; Reimondo, Giuseppe; Papotti, Mauro; Lala, Roberto

    2011-01-01

    Ectopic adrenocorticotrophic hormone (ACTH) secretion is a rare cause of Cushing syndrome in paediatric age, due to tumours arising from different tissues. To date, only 11 reports of ACTH-secreting pancreatic tumours in children and adolescents exist in the literature. We present a paediatric case of Cushing syndrome caused by ectopic ACTH secretion. This was caused by a large acinar cell carcinoma that developed in the pancreas of a 3-year-old girl.

  5. RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction

    Indian Academy of Sciences (India)

    Carlos A. Murga-Zamalloa; Anand Swaroop; Hemant Khanna

    2009-12-01

    Dysfunction of primary cilia due to mutations in cilia-centrosomal proteins is associated with pleiotropic disorders. The primary (or sensory) cilium of photoreceptors mediates polarized trafficking of proteins for efficient phototransduction. Retinitis pigmentosa GTPase regulator (RPGR) is a cilia-centrosomal protein mutated in >70% of X-linked RP cases and 10%–20% of simplex RP males. Accumulating evidence indicates that RPGR may facilitate the orchestration of multiple ciliary protein complexes. Disruption of these complexes due to mutations in component proteins is an underlying cause of associated photoreceptor degeneration. Here, we highlight the recent developments in understanding the mechanism of cilia-dependent photoreceptor degeneration due to mutations in RPGR and RPGR-interacting proteins in severe genetic diseases, including retinitis pigmentosa, Leber congenital amaurosis (LCA), Joubert syndrome, and Senior–Loken syndrome, and explore the physiological relevance of photoreceptor ciliary protein complexes.

  6. [A case of malignant syndrome with leukoencephalopathy due to cocaine abuse].

    Science.gov (United States)

    Yamazaki, K; Katayama, S; Iwai, T; Hirata, K

    1994-06-01

    We report a rare case of malignant syndrome with leukoencephalopathy due to cocaine abuse. The patient was a 22-year-old man. After nasally ingesting 4.2 g of cocaine, he developed coma, high grade fever of 39 degrees C, excessive sweating, muscular rigidity, and elevation of CK to 61,240 mU/ml. Although these symptoms improved in about 2 weeks, diffuse low density area of the cerebral white matter was observed in CT scan, and T2-weighted MRI revealed a high signal intensity area. Since disorientation and abnormal behavior appeared on the 24th hospital day after a lucid interval, sulpiride and haloperidol were administered. The patient again had fever, akinetic mutisn, severe muscular rigidity and excessive sweating. This patient has malignant syndrome associated with a wide-ranging lesion of the cerebral white matter as a result of cocaine abuse. And then antipsychotic drugs were administered for mental symptoms that recurred after a lucid interval, and second bouts of neuroleptic malignant syndrome occurred. There have been only a few reports on malignant syndrome due to cocaine, and there have been no reports on leukoencephalopathy due to cocaine or malignant syndrome.

  7. Cushing Syndrome in a 6-Month-Old Infant due to Adrenocortical Tumor

    Directory of Open Access Journals (Sweden)

    Volmar KeithE

    2009-09-01

    Full Text Available Cushing syndrome is rare in infancy and usually due to an adrenocortical tumor (ACT. We report an infant with Cushing syndrome due to adrenocortical carcinoma. The patient presented at six months of age with a three-month history of growth failure, rapid weight gain, acne, and irritability. Physical examination showed obesity, hypertension, and Cushingoid features. Biochemical evaluation showed very high serum cortisol, mildly elevated testosterone, and suppressed ACTH. Abdominal MRI revealed a heterogeneous right adrenal mass extending into the inferior vena cava. Evaluation for metastases was negative. The tumor was removed surgically en bloc. Pathologic examination demonstrated low mitotic rate, but capsular and vascular invasion. She received no adjuvant therapy. Her linear growth has improved and Cushingoid features resolved. Hormonal markers and quarterly PET scans have been negative for recurrence 24 months postoperatively. In conclusion, adrenocortical neoplasms in children are rare, but should be considered in the differential diagnosis of Cushing syndrome.

  8. Cushing Syndrome in a 6-Month-Old Infant due to Adrenocortical Tumor

    Directory of Open Access Journals (Sweden)

    Keith E. Volmar

    2009-01-01

    Full Text Available Cushing syndrome is rare in infancy and usually due to an adrenocortical tumor (ACT. We report an infant with Cushing syndrome due to adrenocortical carcinoma. The patient presented at six months of age with a three-month history of growth failure, rapid weight gain, acne, and irritability. Physical examination showed obesity, hypertension, and Cushingoid features. Biochemical evaluation showed very high serum cortisol, mildly elevated testosterone, and suppressed ACTH. Abdominal MRI revealed a heterogeneous right adrenal mass extending into the inferior vena cava. Evaluation for metastases was negative. The tumor was removed surgically en bloc. Pathologic examination demonstrated low mitotic rate, but capsular and vascular invasion. She received no adjuvant therapy. Her linear growth has improved and Cushingoid features resolved. Hormonal markers and quarterly PET scans have been negative for recurrence 24 months postoperatively. In conclusion, adrenocortical neoplasms in children are rare, but should be considered in the differential diagnosis of Cushing syndrome.

  9. A case of orbital apex syndrome due to Pseudomonas aeruginosa infection

    Directory of Open Access Journals (Sweden)

    Takeshi Kusunoki

    2011-11-01

    Full Text Available Orbital apex syndrome is commonly been thought to have a poor prognosis. Many cases of this syndrome have been reported to be caused by paranasal sinus mycosis. We encountered a very rare case (60-year-old woman of sinusitis with orbital apex syndrome due to Pseudomonas aeruginosa infection. She had received insulin and dialysis for diabtes and diabetic nephropathy, moreover anticoagulants after heart by-pass surgery. She underwent endoscopic sinus operation and was treated with antibiotics, but her loss of left vision did not improve. Recently, sinusitis cases due to Pseudomonas aeruginosa were reported to be a increasing. Therefore, we should consider the possibility of Pseudomonas aeruginosa as well as mycosis as infections of the sinus, especially inpatients who are immunocompromised body.

  10. A case of orbital apex syndrome due to Pseudomonas aeruginosa infection.

    Science.gov (United States)

    Kusunoki, Takeshi; Kase, Kaori; Ikeda, Katsuhisa

    2011-09-28

    Orbital apex syndrome is commonly been thought to have a poor prognosis. Many cases of this syndrome have been reported to be caused by paranasal sinus mycosis. We encountered a very rare case (60-year-old woman) of sinusitis with orbital apex syndrome due to Pseudomonas aeruginosa infection. She had received insulin and dialysis for diabtes and diabetic nephropathy, moreover anticoagulants after heart by-pass surgery. She underwent endoscopic sinus operation and was treated with antibiotics, but her loss of left vision did not improve. Recently, sinusitis cases due to Pseudomonas aeruginosa were reported to be a increasing. Therefore, we should consider the possibility of Pseudomonas aeruginosa as well as mycosis as infections of the sinus, especially inpatients who are immunocompromised body.

  11. Anthropometry in Klinefelter syndrome - multifactorial influences due to CAG length, testosterone treatment and possibly intrauterine hypogonadism

    DEFF Research Database (Denmark)

    Chang, Simon; Skakkebæk, Anne; Trolle, Christian;

    2015-01-01

    Context: Klinefelter syndrome, 47, XXY (KS), is underdiagnosed partly due to few clinical signs complicating identification of affected individuals. Certain phenotypic traits are common in KS. However, not all aspects of the KS phenotype are well described. Objective: To describe anthropometry...

  12. Maladaptive Behavior Differences in Prader-Willi Syndrome Due to Paternal Deletion versus Maternal Uniparental Disomy.

    Science.gov (United States)

    Dykens, Elisabeth M.; King, Bryan H.; Cassidy, Suzanne B.

    1999-01-01

    This study compared maladaptive behavior in 23 people with Prader-Willi syndrome due to paternal deletion and in 23 age- and gender-matched subjects with maternal uniparental disomy. Controlling for IQs, the deletion cases showed significantly higher maladaptive ratings, more symptom-related distress, and more behavior problems. Findings suggest a…

  13. Opsoclonus myoclonus ataxia syndrome due to falciparum malaria in two Indian children

    Directory of Open Access Journals (Sweden)

    Kallol Bose

    2016-01-01

    Full Text Available Opsoclonus-myoclonus ataxia (OMA syndrome is rare in children, mostly caused by neuroblastoma. Here, we present two very rare cases presenting with OMA due to falciparum malaria. Both of them responded to a high dose of adrenocorticotrophin hormone and intravenous immunoglobulin without recurrence and complication.

  14. Opsoclonus myoclonus ataxia syndrome due to falciparum malaria in two Indian children.

    Science.gov (United States)

    Bose, Kallol; Saha, Sudip; Islam, Md Rahiul; Chakraborty, Chayan; Laskar, Mustakim

    2016-11-01

    Opsoclonus-myoclonus ataxia (OMA) syndrome is rare in children, mostly caused by neuroblastoma. Here, we present two very rare cases presenting with OMA due to falciparum malaria. Both of them responded to a high dose of adrenocorticotrophin hormone and intravenous immunoglobulin without recurrence and complication.

  15. Prosthetic valve endocarditis due to Neisseria elongata subsp. elongata in a patient with Klinefelter's syndrome.

    Science.gov (United States)

    Evans, Morgan; Yazdani, Farah; Malnick, Henry; Shah, Jayesh J; Turner, David P J

    2007-06-01

    A case is reported of prosthetic valve endocarditis due to Neisseria elongata subsp. elongata in a patient with Klinefelter's syndrome. This is believed to be only the third case of endocarditis reported due to this subspecies. N. elongata is difficult to identify, and is morphologically and biochemically similar to Kingella spp. Sequencing of the 16S rRNA gene is useful for identification. The patient was successfully treated with amoxicillin and gentamicin, followed by ceftriaxone.

  16. Cushing's syndrome in infancy due to ectopic ACTH secretion by a sacro-coccygeal teratoma.

    Science.gov (United States)

    Rydzewska, Marta; Krawczuk-Rybak, Maryna; Zajkowska, Adrianna; Jurczuk, Natalia; Polnik, Dariusz; Szalecki, Mieczysław; Moszczyńska, Elżbieta; Savage, Martin O; Bossowski, Artur

    2017-04-01

    Adenocorticotropic hormone (ACTH)-dependent Cushing's syndrome in infancy is extremely rare. We describe the case of a sacro-coccygeal ectopic ACTH-secreting immature teratoma in an infant who also presented the triad of defects characteristic of Currarino syndrome. A girl was born with a large immature teratoma in the sacro-coccygeal region associated with anal atresia. At the age of 7 days, the concentration of α-fetoprotein (AFP) was above the age-specific normal range. Two non-radical surgical excisions of the tumour were performed. At the age of 7 months, she developed polyphagia, acne, hirsutism, hypertension and hypokalemia with elevated ACTH and absence of serum cortisol circadian rhythm. Immunostaining of tumour tissue showed ACTH-immunoreactive cells. Due to unsuccessful therapy with ketoconazole and resistance to antihypertensive medications [blood pressure (BP) 210/160 mmHg], metyrapone was administered, which controlled her ACTH and cortisol levels in the normal range. Following further removal of tumour bulk after three operations during the first year of life, there was a decrease of BP to normal values. A rare case of ectopic ACTH syndrome causing Cushing's syndrome in infancy in the context of Currarino syndrome is reported. Radical surgery has resulted in excision of the tumour and current control of Cushing's syndrome.

  17. Mike Leigh' abordi-draama võitis Veneetsias Kuldlõvi / Tiit Tuumalu

    Index Scriptorium Estoniae

    Tuumalu, Tiit, 1971-

    2004-01-01

    Veneetsia 61. filmifestivali võitjad : Kuldlõvi sai inglase Mike Leigh "Vera Drake" (nimiosa eest ka parima naisnäitleja Coppa Volpi Imelda Stauntonile), Hõbelõvi läks hispaanlase Alejandro Amenabari filmile "Merele" (siit ka parima meesnäitleja au Javier Bardemile), režii eriauhinna sai Kim Ki-duk Lõuna-Koreast filmiga "Tühi maja" ("Bin jip")

  18. Mike Leigh' abordi-draama võitis Veneetsias Kuldlõvi / Tiit Tuumalu

    Index Scriptorium Estoniae

    Tuumalu, Tiit, 1971-

    2004-01-01

    Veneetsia 61. filmifestivali võitjad : Kuldlõvi sai inglase Mike Leigh "Vera Drake" (nimiosa eest ka parima naisnäitleja Coppa Volpi Imelda Stauntonile), Hõbelõvi läks hispaanlase Alejandro Amenabari filmile "Merele" (siit ka parima meesnäitleja au Javier Bardemile), režii eriauhinna sai Kim Ki-duk Lõuna-Koreast filmiga "Tühi maja" ("Bin jip")

  19. Leigh Wilson, Modernism and Magic. Experiments with Spiritualism, Theosophy and the Occult

    OpenAIRE

    Marie, Florence

    2015-01-01

    In her 167-page book entitled Modernism and Magic. Experiments with Spiritualism, Theosophy and the Occult, Leigh Wilson tries to understand in what respect a certain number of modernist writers’ and avant-garde artists’ interest in theosophy, spiritualism and occult practices influenced their creations. She argues that in many cases their interest enabled them to define a new approach to mimesis without rejecting the latter altogether. She contends that magic was at the heart of the occult d...

  20. Hemarthrosis due to a rare cause of hemorrhagic diathesis: Ehlers-Danlos syndrome.

    Science.gov (United States)

    Giordano, Paola; Del Vecchio, Giovanni Carlo; Scaraggi, Rosanna; Cardinale, Fabio; Moretti, Biagio; Lassandro, Giuseppe; De Mattia, Domenico

    2008-01-01

    The authors report a case of hemarthrosis complicated by severe anemia related to a congenital connective tissue disease: Ehlers-Danlos syndrome. A boy fell down and suffered tumefaction of both knees with bilateral rupture of the rotula tendon. He underwent surgical reinsertion of each tendon on the rotula. He later showed an unexpected ongoing hematic effusion, with severe anemia. He was screened for coagulation disorders with no results. On taking a more detailed history and investigating the patient's phenotypical features, the authors diagnosed Ehlers-Danlos syndrome, hypermobile variant. The hemarthrosis and anemia were thus concluded to be consequences of excessive tissue fragility due to a congenital connective tissue disease.

  1. Fulminant intracranial hypertension due to cryptococcal meningitis in a child with nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Leena Nagotkar

    2011-01-01

    Full Text Available Cryptococcus neoformans has a worldwide distribution. Meningoencephalitis is the most common manifestation of cryptococcosis. The outcome of a patient with cryptococcal infection depends on the immune status of the host. Patients with nephrotic syndrome are particularly susceptible to cryptococcal infection not only due to innate changes in their immune system but also because of the immunosuppressive agents used in the treatment. We report an 8-year-old boy with nephrotic syndrome, who developed cryptococcal meningitis and died of fulminant intracranial hypertension.

  2. ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.

    Science.gov (United States)

    Peters, Heidi; Buck, Nicole; Wanders, Ronald; Ruiter, Jos; Waterham, Hans; Koster, Janet; Yaplito-Lee, Joy; Ferdinandusse, Sacha; Pitt, James

    2014-11-01

    Two siblings with fatal Leigh disease had increased excretion of S-(2-carboxypropyl)cysteine and several other metabolites that are features of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency, a rare defect in the valine catabolic pathway associated with Leigh-like disease. However, this diagnosis was excluded by HIBCH sequencing and normal enzyme activity. In contrast to HIBCH deficiency, the excretion of 3-hydroxyisobutyryl-carnitine was normal in the children, suggesting deficiency of short-chain enoyl-CoA hydratase (ECHS1 gene). This mitochondrial enzyme is active in several metabolic pathways involving fatty acids and amino acids, including valine, and is immediately upstream of HIBCH in the valine pathway. Both children were compound heterozygous for a c.473C > A (p.A158D) missense mutation and a c.414+3G>C splicing mutation in ECHS1. ECHS1 activity was markedly decreased in cultured fibroblasts from both siblings, ECHS1 protein was undetectable by immunoblot analysis and transfection of patient cells with wild-type ECHS1 rescued ECHS1 activity. The highly reactive metabolites methacrylyl-CoA and acryloyl-CoA accumulate in deficiencies of both ECHS1 and HIBCH and are probably responsible for the brain pathology in both disorders. Deficiency of ECHS1 or HIBCH should be considered in children with Leigh disease. Urine metabolite testing can detect and distinguish between these two disorders.

  3. [Neonatal toxic shock syndrome due to Streptococcus pyogenes: case report and literature review].

    Science.gov (United States)

    Díaz A, Manuel

    2007-12-01

    The clinical history of a newborn child who died from toxic shock syndrome (TSS) due to group A Streptococcus (GAS) was summarized. Literature was reviewed by searching different databases and other sources. Previous to our patient, there were 6 neonatal patients with TSS due to GAS published with the clinical description of the cases and three others without detailed information. In conclusion, nowadays, infection due to GAS is not a frequent devastating disease during the neonatal period, but when it is present it can cause TSS with high lethality.

  4. Atypical Angelman syndrome with macrocephaly due to a familial imprinting center deletion.

    Science.gov (United States)

    Ronan, Anne; Buiting, Karin; Dudding, Tracy

    2008-01-01

    Two elderly brothers with severe intellectual disability were diagnosed with Angelman syndrome after a once-removed, 15-year-old cousin was found to have the syndrome due to a deletion of the imprinting center. For many years it was believed the brothers, who both have macrocephaly, were affected by nonsyndromic X-linked mental retardation. This was because, apart from absent speech and intellectual disability, the phenotype of the two men was not characteristic of Angelman syndrome. Conversely, the cousin, in addition to severe intellectual disability, language impairment, and ataxic gait, has microcephaly. None of the three have seizures, and so in the presence of the brothers' macrocephaly, Angelman syndrome was not considered until a diagnosis was made in the younger distant cousin. We report on a familial imprinting center deletion and the importance of considering the mild and atypical Angelman syndrome phenotypes within the differential diagnosis of intellectual handicap, particularly in clarifying the genetic risk to other family members. (c) 2007 Wiley-Liss, Inc.

  5. Severe drug hypersensitivity syndrome due to sulphasalazine in patient with rheumatoid arthritis

    Directory of Open Access Journals (Sweden)

    W. Grassi

    2011-06-01

    Full Text Available Drug Hypersensitivity Syndrome, also known as Drug Rash with Eosinophilia and Systemic Symptoms is a severe adverse reaction characterized by clinical manifestations including fever, skin eruption, lymphoadenopathy, associated with eosinophilia, leukocytosis and multiple visceral involvement, with 10% of mortality due to development of multiple organ failure. This reaction usually occurs between two and six-eight weeks after the beginning of the treatment and may not resolve with interruption of the suspected drug. Sulfonamides, anticonvulsant, allopurinol are the most frequently involved molecules, but recently cases have been described also with gabapentin and strontium ranelate. In the present report we describe a case of a patient with rheumatoid arthritis who presented severe drug hypersensitivity syndrome, with liver and kidney involvement due to sulphasalazine.

  6. Down's syndrome is a risk factor for severe lower respiratory tract infection due to respiratory syncytial virus

    NARCIS (Netherlands)

    Galleguillos, Constanza; Galleguillos, Bárbara; Larios, Guillermo; Menchaca, Gonzalo; Bont, Louis; Castro-Rodriguez, Jose A

    2016-01-01

    AIM: Previous studies have suggested that Down's syndrome is an independent risk factor for severe respiratory infection due to respiratory syncytial virus (RSV). We compared the clinical characteristics of children with and without Down's syndrome hospitalised due to RSV. METHODS: This retrospectiv

  7. Down's syndrome is a risk factor for severe lower respiratory tract infection due to respiratory syncytial virus

    NARCIS (Netherlands)

    Galleguillos, Constanza; Galleguillos, Bárbara; Larios, Guillermo; Menchaca, Gonzalo; Bont, Louis|info:eu-repo/dai/nl/304813370; Castro-Rodriguez, Jose A

    2016-01-01

    AIM: Previous studies have suggested that Down's syndrome is an independent risk factor for severe respiratory infection due to respiratory syncytial virus (RSV). We compared the clinical characteristics of children with and without Down's syndrome hospitalised due to RSV. METHODS: This retrospectiv

  8. Malnutrition and inflammation in acute kidney injury due to earthquake-related crush syndrome

    OpenAIRE

    2010-01-01

    Abstract Background Malnutrition and inflammation are common and serious complications in patients with acute kidney injury (AKI). However, the profile of these complications in patients with AKI caused by crush syndrome (CS) remains unclear. This study describes the clinical characteristics of malnutrition and inflammation in patients with AKI and CS due to the Wenchuan earthquake. Methods One thousand and twelve victims and eighteen healthy adults were recruited to the study. They were divi...

  9. Multiple organ dysfunction syndrome due to massive wasp stings:an autopsy case report

    Institute of Scientific and Technical Information of China (English)

    ZHANG Ling; TANG Yi; LIU Fang; SHI Yu-ying; CAO Yu; XU Huan; FU Ping

    2012-01-01

    We reported a case of multiple organ dysfunction syndrome (MODS) following about 300 wasp stings.The diagnosis was based on autopsy findings of acute pulmonary edema,acute kidney injury,hepatic and cardiac dysfunction,and cerebral edema.MODS is a life-threatening complication,and should be considered a possibility after multiple wasp stings.Our autopsy helped to establish the cause of unexpected death due to wasp stings and to elucidate a possible mechanism of MODS.

  10. Compartment syndrome developed due to the plaster cast :Three cases report

    Directory of Open Access Journals (Sweden)

    Pinar Doruk

    2013-08-01

    Full Text Available Compartment syndrome can occur as a result of the complication of the plaster cast applications ,which are frequently used for fracture stabilization. This syndrome occurs due to increased compartment volume or shrinking of compartment area because of edema, hemorrage or high pressure of tissues. All of these mechanisms causes arteriolar compression, resulting nerve and muscle ischemia. Intensive and continuous pain is common and limits the motions of the patient and increases with passive stretching of the involved muscles. Swelling of limb, change in skin color, peripheral vasculatory failure symptoms such as pallor,weak arterial pulsation and as a result of peripheral nerve damage, sensorimotor deficit can also be observed. Clinical evaluation, measure of pressure within the compartment, and electroneuromyography (ENMG can be used for the diagnosis. In addition to treatment of to the treatment of etiology and pain, further treatment options such as fasciotomy, physiotherapy modalities, tendon transfers, can be performed. In this case report, we will discuss three patients with nerve lesions as a result of the compartment syndrome that developed due to the plaster casting of bone fractures. [Cukurova Med J 2013; 38(4.000: 774-778

  11. Cushing syndrome in a young woman due to primary pigmented nodular adrenal disease.

    Science.gov (United States)

    Hackman, Kathryn L; Davis, Anna L; Curnow, Paul A; Serpell, Jonathan W; McLean, Catriona A; Topliss, Duncan J

    2010-01-01

    To report a case of Cushing syndrome due to apparently sporadic primary pigmented nodular adrenal disease in a young woman. We describe the clinical, biochemical, radiologic, and histologic findings of Cushing syndrome due to the rare condition of primary pigmented nodular adrenal disease. A 30-year-old woman presented with a 2-year history of worsening itch without rash over her shoulders and arms and weight gain, particularly around the abdomen and face. Careful questioning did not elicit any history of exogenous glucocorticoid use (systemic or topical), including hydrocortisone. On examination, the patient had a slightly rounded and plethoric face, a small buffalo hump, central adiposity, and thin skin with a few small striae on her inner thighs. No features of the Carney complex were observed. Investigations showed hypercortisolism with suppressed corticotropin and normal adrenal imaging despite documentation of enlarged adrenal glands at removal. High-dose dexamethasone administration was followed by a decrease in urinary free cortisol excretion rather than a paradoxical rise as previously reported in primary pigmented nodular adrenal disease. No mutations were detected in the PRKAR1A gene. Primary pigmented nodular adrenal disease should be suspected in patients with corticotropin-independent Cushing syndrome who have normal adrenal imaging. The role of genetic testing in apparently sporadic cases is not established, but cumulative experience may be helpful in defining the frequency of PRKAR1A mutations.

  12. Clinical experience of Pseudo-Meigs' Syndrome due to colon cancer

    Institute of Scientific and Technical Information of China (English)

    HiromichiMaeda; TakehrioOkabayashi; KazuhiroHanazaki; MichiyaKobayashi

    2011-01-01

    We report a rare case of Pseudo-Meigs' Syndrome caused by ovarian metastasis from sigmoid colon cancer, which was accompanied by peritoneal dissemination. A 58-year-old female patient presented with massive right pleural effusion, ascites and a huge pelvic mass. Under the diagnosis of an advanced ovarian tumor, bilateral oophorectomy was performed and sigmoidectomy was also carried out after intraoperative diagnosis of peritoneal dissemination involving the sigmoid colon. How- ever, immunohistochemical staining revealed that the ovarian lesions were metastasis from the primary advanced colon cancer. Postoperatively, ascites and pleural effusion subsided, and the diagnosis of Pseudo-Meigs' Syndrome due to a metastatic ovarian tumor from colon cancer was determined. The patient is now undergoing a regimen of chemotherapy for colon cancer without recurrence of ascites or hydrothorax 10 mo after the surgery. Pseudo-Meigs' Syndrome due to a metastaticovarian tumor from colon cancer is rare but clinically important because long-term alleviation of symptoms can be achieved by surgical resection. This case report suggests that selected patients, even with peritoneal dissemination, may obtain palliation from surgical resection of metastatic ovarian tumors.

  13. Acute respiratory failure due to refeeding syndrome and hypophosphatemia induced by hypocaloric enteral nutrition.

    Science.gov (United States)

    Patel, Utpal; Sriram, Krishnan

    2009-03-01

    We report a case of acute respiratory failure due to refeeding syndrome caused by hypocaloric enteral tube feeds. A 60-y-old obese man, with a diagnosis of esophageal carcinoma with local metastases, underwent feeding jejunostomy tube insertion. Enteral tube feeding was initiated at small volumes providing 4.4 kcal x kg(-1) x d(-1) and gradually increased over 48 h to 29 kcal x kg(-1) x d(-1) (based on adjusted body weight). The patient then developed acute respiratory distress requiring intubation and ventilatory support. Serum phosphorus (P) level was extremely low at 4 d to adequately correct the electrolyte derangements. Successful liberation from mechanical ventilation was then possible. In chronically malnourished patients undergoing nutritional support, even hypocaloric feeding should be considered a risk factor for developing refeeding syndrome leading to severe and acute electrolyte fluid-balance and metabolic abnormalities.

  14. Multiple osteoblastomas in a child with Cushing syndrome due to bilateral adrenal micronodular hyperplasias

    Science.gov (United States)

    Yu, Hyeoh Won; Cho, Won Im; Choi, Keun Hee; Yun, Sumi; Cho, Hwan Seong; Shin, Choong Ho; Yang, Sei Won

    2016-01-01

    Adrenocorticotropin-independent adrenal hyperplasias are rare diseases, which are classified into macronodular (>1 cm) and micronodular (≤1 cm) hyperplasia. Micronodular adrenal hyperplasia is subdivided into primary pigmented adrenocortical disease and a limited or nonpigmented form 'micronodular adrenocortical disease (MAD)', although considerable morphological and genetic overlap is observed between the 2 groups. We present an unusual case of a 44-month-old girl who was diagnosed with Cushing syndrome due to MAD. She had presented with spotty pigmentation on her oral mucosa, lips and conjunctivae and was diagnosed with multiple bone tumors in her femur, pelvis and skull base at the age of 8 years. Her bone tumor biopsies were compatible with osteoblastoma. This case highlights the importance of verifying the clinicopathologic correlation in Cushing syndrome and careful follow-up and screening for associated diseases. PMID:27104180

  15. Multiple osteoblastomas in a child with Cushing syndrome due to bilateral adrenal micronodular hyperplasias.

    Science.gov (United States)

    Yu, Hyeoh Won; Cho, Won Im; Chung, Hye Rim; Choi, Keun Hee; Yun, Sumi; Cho, Hwan Seong; Shin, Choong Ho; Yang, Sei Won

    2016-03-01

    Adrenocorticotropin-independent adrenal hyperplasias are rare diseases, which are classified into macronodular (>1 cm) and micronodular (≤1 cm) hyperplasia. Micronodular adrenal hyperplasia is subdivided into primary pigmented adrenocortical disease and a limited or nonpigmented form 'micronodular adrenocortical disease (MAD)', although considerable morphological and genetic overlap is observed between the 2 groups. We present an unusual case of a 44-month-old girl who was diagnosed with Cushing syndrome due to MAD. She had presented with spotty pigmentation on her oral mucosa, lips and conjunctivae and was diagnosed with multiple bone tumors in her femur, pelvis and skull base at the age of 8 years. Her bone tumor biopsies were compatible with osteoblastoma. This case highlights the importance of verifying the clinicopathologic correlation in Cushing syndrome and careful follow-up and screening for associated diseases.

  16. Mirror syndrome after fetoscopic laser therapy for twin-twin transfusion syndrome due to transient donor hydrops that resolved before delivery. A case report.

    Science.gov (United States)

    Chang, Yao-Lung; Chao, An-Shine; Chang, Shuenn-Dyh; Wang, Chao-Nin

    2014-01-01

    Mirror syndrome is a rare complication of twin-twin transfusion syndrome (TTTS). Its clinical picture includes massive edema, oliguria, and hemodilution in the context of fetal hydrops. The occurrence of mirror syndrome after fetoscopic laser therapy for TTTS has been well documented, but resolution of mirror syndrome before delivery has not been reported in the literature. A 33-year-old woman was referred to our institution at 23(6)/7 weeks' gestation for TTTS, which had been treated with amnioreduction twice: at 21 and 22 gestational weeks, respectively. Mirror syndrome was diagnosed after fetoscopic laser therapy for TTTS at 24 weeks' gestation due to maternal manifestations of pulmonary edema, skin edema, anemia, low blood protein concentration and proteinuria accompanied by donor hydrops. The maternal respiratory symptoms then gradually abated in mirror syndrome after fetoscopic laser therapy in twin-twin transfusion due to donor hydrops doesn't necessarily predict a poor perinatal outcome.

  17. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.

    OpenAIRE

    1998-01-01

    Leigh disease associated with cytochrome c oxidase deficiency (LD[COX-]) is one of the most common disorders of the mitochondrial respiratory chain, in infancy and childhood. No mutations in any of the genes encoding the COX-protein subunits have been identified in LD(COX-) patients. Using complementation assays based on the fusion of LD(COX-) cell lines with several rodent/human rho0 hybrids, we demonstrated that the COX phenotype was rescued by the presence of a normal human chromosome 9. L...

  18. Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies

    Directory of Open Access Journals (Sweden)

    Jamie L. Fraser

    2014-01-01

    Full Text Available We present a sibling pair with Leigh-like disease, progressive hypotonia, regression, and chronic encephalopathy. Whole exome sequencing in the younger sibling demonstrated a homozygous thiamine pyrophosphokinase (TPK mutation. Initiation of high dose thiamine, niacin, biotin, α-lipoic acid and ketogenic diet in this child demonstrated improvement in neurologic function and re-attainment of previously lost milestones. The diagnosis of TPK deficiency was difficult due to inconsistent biochemical and diagnostic parameters, rapidity of clinical demise and would not have been made in a timely manner without the use of whole exome sequencing. Molecular diagnosis allowed for attempt at dietary modification with cofactor supplementation which resulted in an improved clinical course.

  19. Hypokalemic paralysis due to thyrotoxicosis accompanied by Gitelman′s syndrome

    Directory of Open Access Journals (Sweden)

    S Baldane

    2015-01-01

    Full Text Available A 35-year-old male patient was admitted with fatigue and muscle weakness. He had been on methimazole due to thyrotoxicosis for 2 weeks. Laboratory tests showed overt hyperthyroidism and hypokalemia. Potassium replacement was started with an initial diagnosis of thyrotoxic hypokalemic periodic paralysis. Later on, despite the euthyroid condition and potassium chloride treatment, hypokalemia persisted. Further investigations revealed hyperreninemic hyperaldosteronism. The patient was considered to have Gitelman′s syndrome (GS and all genetic analysis was done. A c. 1145C>T, p.Thr382Met homozygote missense mutation located on solute carrier family 12, member gene 3, exon 9 was detected and GS was confirmed.

  20. Carcinoid syndrome, acromegaly, and hypoglycemia due to an insulin-secreting neuroendocrine tumor of the liver.

    Science.gov (United States)

    Furrer, J; Hättenschwiler, A; Komminoth, P; Pfammatter, T; Wiesli, P

    2001-05-01

    We report a patient with a hepatic neuroendocrine tumor showing an extraordinary change of the tumor's humoral manifestations from a clinically documented extrapituitary acromegaly and a typical carcinoid syndrome toward a hyperinsulinemic hypoglycemia syndrome. At the primary manifestation of the tumor, an increased serum level of insulin-like growth factor I due to overproduction of GHRH and an increased urinary excretion of 5-hydroxyindoleacetic acid were found. The clinical manifestation of the GHRH excess was an arthralgia, which resolved completely after operative tumor debulking and normalization of insulin-like growth factor I and GHRH serum levels. The secretion of serotonin from the tumor resulted in a typical carcinoid syndrome including right-sided valvular heart disease. On the later course of the disease, the humoral manifestations of the tumor were supplemented by the secretion of insulin, leading to recurrent severe hyperinsulinemic hypoglycemia. The hepatic origin of hyperinsulinism was demonstrated by selective arterial calcium stimulation. Moreover, tumor cells revealed insulin and C-peptide immunoreactivity in the immunohistochemical analysis. The patient died 8 yr after the initial diagnosis of the tumor, and a carefully performed autopsy procedure confirmed the absence of any extrahepatic tumor manifestation.

  1. Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations.

    Science.gov (United States)

    Burke, Georgina; Hiscock, Andrew; Klein, Andrea; Niks, Erik H; Main, Marion; Manzur, Adnan Y; Ng, Joanne; de Vile, Catherine; Muntoni, Francesco; Beeson, David; Robb, Stephanie

    2013-02-01

    Congenital myasthenic syndromes due to DOK7 mutations cause fatigable limb girdle weakness. Treatment with ephedrine improves muscle strength. Salbutamol, a β(2)-adrenergic receptor agonist with fewer side effects and more readily available, has been effective in adult and anecdotal childhood cases. This study reports the effects of salbutamol on motor function in childhood DOK7 congenital myasthenic syndrome. Nine children (age range 5.9-15.1years) were treated with oral salbutamol, 2-4mg TDS. The effect on timed tests of motor function, pre- and up to 28months post-treatment, was audited retrospectively. All 9 reported functional benefit within 1month, with progressive improvement to a plateau at 12-18months. Within the first month, all 3 non-ambulant children resumed walking with assistance. Although improvements were seen in some timed tests (timed 10m, arm raise time, 6min walk time) this did not fully reflect the observed functional benefits in daily living activities. No major side effects were reported. We conclude that oral salbutamol treatment significantly improves strength in children with DOK7 congenital myasthenic syndrome and is well tolerated. Outcome measures need to be refined further, both to accurately reflect functional abilities in children and to document progress and treatment response.

  2. Novel SCN5A mutation associated with idiopathic ventricular fibrillation due to subclinical Brugada syndrome

    Directory of Open Access Journals (Sweden)

    Juan Jiménez-Jáimez

    2011-12-01

    Full Text Available Idiopathic ventricular fibrillation can be caused by subclinical channelopathies such as Brugada syndrome. Our objective is to study the clinical behaviour of a new SCN5A mutation found in a woman with idiopathic ventricular fibrillation. A 53-year-old woman presented with multiple episodes of ventricular fibrillation, a structurally normal heart and normal baseline electrocardiogram. Genetic testing included KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2 and KCNJ2 and identified a mutation in SCN5A (D1816fs/g98747-98748insT. We studied 15 immediate family members by means of electrocardiogram, echocardiogram, flecainide challenge test and genetic study. Eight subjects had the mutation. The flecainide challenge test was positive for Brugada syndrome in two subjects in the case group and none in the control group. The PR and QRS intervals on the baseline electrocardiogram were longer in the case group. The left atrial volume indexed to body surface was higher in the case group, likely due to the fact that two patients with the mutation had atrial fibrillation and none had it in the control group. The D1816fs/g98747-98748insT mutation in SCN5A may be associated with idiopathic ventricular fibrillation and Brugada syndrome with a broad phenotypic spectrum and incomplete penetrance. Genetic testing may be useful to identify the etiology of idiopathic ventricular fibrillation in patients with a negative thorough clinical evaluation.

  3. Skin vasomotor hemiparesis followed by overactivity: characteristic thermography findings in a patient with Horner syndrome due to spinal cord infarction.

    Science.gov (United States)

    Kobayashi, Makoto

    2016-04-01

    We present a 21-year-old female with Horner syndrome due to spinal cord infarction. In this patient, infrared thermography revealed a hemibody skin temperature increase followed by excessive focal decreases, indicating skin vasomotor hemiparesis and overactivity.

  4. Clinical features, diagnosis, treatment and molecular studies in paediatric Cushing's syndrome due to primary nodular adrenocortical hyperplasia

    DEFF Research Database (Denmark)

    Storr, Helen L; Mitchell, J H; Swords, F M

    2004-01-01

    BACKGROUND: Primary nodular adrenocortical hyperplasia (PNAH) is a well recognized, but infrequently studied cause of paediatric Cushing's syndrome (CS). OBJECTIVE: To assess presentation, diagnosis, radiological imaging, treatment and molecular analysis of patients with childhood-onset CS due...

  5. Letter to Editor: Carpal tunnel syndrome due to an atypical deep soft tissue leiomyoma: The risk of misdiagnosis and mismanagement

    Directory of Open Access Journals (Sweden)

    Caliandro Pietro

    2008-02-01

    Full Text Available Abstract A response to Chalidis et al: Carpal tunnel syndrome due to an atypical deep soft tissue leiomyoma: The risk of misdiagnosis and mismanagement. World J Surg Oncol 2007, 5:92.

  6. Severe jaundice due to coexistence of Dubin-Johnson syndrome and hereditary spherocytosis: a case report.

    Science.gov (United States)

    Korkmaz, Uğur; Duman, Ali Erkan; Oğütmen Koç, Deniz; Gürbüz, Yeşim; Dındar, Gökhan; Ensaroğlu, Fatih; Sener, Selçuk Yusuf; Sentürk, Omer; Hülagü, Sadettin

    2011-08-01

    Dubin-Johnson syndrome is a chronic, benign, intermittent jaundice, mostly of conjugated hyperbilirubinemia. The level of bilirubin is not expected to be more than 20 mg/dl in this syndrome. In this article, we report a patient who was evaluated for hyperbilirubinemia and liver function test abnormalities and diagnosed with Dubin-Johnson syndrome coexisting with hereditary spherocytosis. We suggest that other diseases should be investigated if patients with Dubin-Johnson syndrome present with severe hyperbilirubinemia. Dubin-Johnson syndrome accompanied by hemolytic diseases might also have high coproporphyrin levels (as in Rotor's syndrome) than expected in pure Dubin-Johnson syndrome.

  7. Refeeding syndrome in a patient with advanced kidney failure due to nephronophthisis.

    Science.gov (United States)

    El-Reshaid, Kamel

    2013-11-01

    Refeeding syndrome (RS) is a serious and potentially fatal disorder. It is caused by a shift of fluids, sodium, potassium, magnesium and phosphorus as well changes in the metabolism of glucose, protein, fat and vitamins following the refeeding of malnourished patients, whether enterally or parenterally. RS has rarely been reported in patients with advanced kidney disease probably due to the pre-existing hyperphosphatemia, hypermagnesemia and hyperkalemia in these patients. In the following report, we present a patient with nephronophthisis type 1 deletion syndrome in whom her main previous nutrition was limited to simply rehydration to avoid renal replacement therapy. On presentation, she was cachectic and dehydrated with advanced kidney failure. She was treated with medical nephrectomy using non-steroidal anti-inflammatory drugs and then placed on maintenance hemodialysis. Percutaneous endoscopic gastrostomy was used for her initial feeding. Care was exercised during her early refeeding with regard to correction of fluids and essential electrolytes, viz. potassium, phosphorus and magnesium, as well as multivitamins to avoid the cardiovascular and neurological complications of RS. However, the changes in the gut, pancreas and liver as well as her hyperlipidemia were a clear obstacle. Fortunately, the ileus and pancreatitis she developed on refeeding improved dramatically with a decrease of the feeding dose to half; however, the liver abnormalities and hyperlipidemia were severe and slow to recover. These improved after addition of ursodeoxycholic acid and permitted successful increase of the dose of feeding subsequently.

  8. Angelman syndrome due to paternal uniparental disomy of chromosome 15: A milder phenotype?

    Energy Technology Data Exchange (ETDEWEB)

    Bottani, A.; Robinson, W.P.; DeLoizer-Blanchet, C.D.; Engel, E.; Morris, M.A.; Schmitt, Thun-Hohenstein, L.; Schinzel, A. [Univ. of Zuerich (Switzerland)

    1994-05-15

    The Angelman syndrome (AS) is a neurological disorder characterized by severe mental retardation, absent speech, seizures, gait disturbances, and a typical age-dependent facial phenotype. Most cases are due to an interstitial deletion on the maternally inherited chromosome 15, in the critical region q11-q13. Rare cases also result from paternal uniparental disomy of chromosome 15. In a group of 14 patients with sporadic AS diagnosed in Switzerland, we found 2 unrelated females with paternal isodisomy for the entire chromosome 15. Their phenotypes were milder than usually seen in this syndrome: one girl did not show the typical AS facial changes; both patients had late-onset mild seizures; as they grow older, they had largely undisturbed gross motor functions, in particular no severe ataxia. Both girls were born to older fathers (45 and 43 years old, respectively). The apparent association of a relatively milder phenotype in AS with paternal uniparental disomy will have to be confirmed by detailed clinical descriptions of further patients. 25 refs., 2 figs., 1 tab.

  9. An unusual presentation of Denys-Drash syndrome due to bigenic disease.

    Science.gov (United States)

    Eneman, Benedicte; Mekahli, Djalila; Audrezet, Marie-Pierre; Lerut, Evelyne; Van Damme-Lombaerts, Rita; Van den Heuvel, Lambertus; Levtchenko, Elena

    2014-01-01

    We report a case of Denys-Drash syndrome (DDS) in a 3-month-old girl presenting with bilateral renal cortical cysts mimicking polycystic kidney disease. Genetic analysis revealed a de novo heterozygous missense mutation c.1186G>A (p.Asp396Asn) in the WT1 gene, confirming the diagnosis of DDS. Because multiple renal cysts have never been reported in DDS, we explored several genes responsible for these renal manifestations, such as HNF-1β, PAX2, PKD1, and PKD2. Remarkably, we identified a heterozygous missense variant c.12439A>G (p.Lys4147Glu) in the PKD1 gene. The same variant was found in the patient's mother, who had no renal cysts, and in the grandfather, who had several renal cysts. Mutation prediction programs classified the c.12439A>G variant as being "likely pathogenic." We hypothesize that the severe cystic phenotype in the index patient could be due to the WT1 mutation, enhancing pathogenicity of the "hypomorph" PKD1 allele. A possible role for Wilms tumor suppressor 1 (WT1) in renal cyst development should be considered. From a conceptual point of view, this case shows that an unusual presentation of a known genetic syndrome might point to bigenic inheritance, with unexpected interference of mutated genes causing an uncommon clinical phenotype.

  10. The Compartment Syndrome Associated with Deep Vein Thrombosis due to Rattlesnake Bite: A Case Report.

    Science.gov (United States)

    Tincu, Radu Ciprian; Ghiorghiu, Zoie; Tomescu, Dana; Macovei, Radu Alexandru

    2017-08-04

    Snakebite is a health issue specific to some parts of the world, especially in the tropical areas, where it produces many victims. The main clinical damage caused by snakebite involves haemotoxic, neurotoxic and myotoxic reactions. We report the case of a young woman suffering from snakebite who developed deep vein thrombosis and compartment syndrome. We present the case of a 32-year-old Romanian woman who was injured by her own Crotalinae snake (also known as pit viper or rattlesnake) on her left forearm. When admitted to our Emergency Department, she was conscious with a Glasgow coma scale of 12/15, somnolent, febrile, suffering of headache, tachypnoea; the marks of the snakebite were located in the distal part of the anterior left forearm; she had pain and bleeding at the bite site and swelling of the left upper limb with lymphangitis up to the axilla. She experienced fasciotomy-requiring compartment syndrome of the upper limb and required unfractionated heparin and close monitoring using activated partial thromboplastin time evolution due to micro-thrombosis in the brachial vein. Local improvement was achieved in the next 4 days with progressive diminishment of local tenderness and swelling. Limb deep vein thrombosis might be induced by snakebite, despite the pro-haemorrhagic general condition induced by the envenomation. A high index of clinical suspicion is needed for early diagnosis and timely management, which can improve survival of these patients.

  11. Refeeding syndrome in a patient with advanced Kidney failure due to Nephronophthisis

    Directory of Open Access Journals (Sweden)

    Kamel El-Reshaid

    2013-01-01

    Full Text Available Refeeding syndrome (RS is a serious and potentially fatal disorder. It is caused by a shift of fluids, sodium, potassium, magnesium and phosphorus as well changes in the metabolism of glucose, protein, fat and vitamins following the refeeding of malnourished patients, whether enterally or parenterally. RS has rarely been reported in patients with advanced kidney disease probably due to the pre-existing hyperphosphatemia, hypermagnesemia and hyperkalemia in these patients. In the following report, we present a patient with nephronophthisis type 1 deletion syndrome in whom her main previous nutrition was limited to simply rehydration to avoid renal replacement therapy. On presentation, she was cachectic and dehydrated with advanced kidney failure. She was treated with medical nephrectomy using non-steroidal anti-inflammatory drugs and then placed on maintenance hemodialysis. Percutaneous endoscopic gastrostomy was used for her initial feeding. Care was exercised during her early refeeding with regard to correction of fluids and essential electrolytes, viz. potassium, phosphorus and magnesium, as well as multivitamins to avoid the cardiovascular and neurological complications of RS. However, the changes in the gut, pancreas and liver as well as her hyperlipidemia were a clear obstacle. Fortunately, the ileus and pancreatitis she developed on refeeding improved dramatically with a decrease of the feeding dose to half; however, the liver abnormalities and hyperlipidemia were severe and slow to recover. These improved after addition of ursodeoxycholic acid and permitted successful increase of the dose of feeding subsequently.

  12. Eyes on MEGDEL: Distinctive Basal Ganglia Involvement in Dystonia Deafness Syndrome

    NARCIS (Netherlands)

    Wortmann, S.B.; Hasselt, P.M. van; Baric, I.; Burlina, A.; Darin, N.; Horster, F.; Coker, M.; Ucar, S. Kalkan; Krumina, Z.; Naess, K.; Ngu, L.H.; Pronicka, E.; Riordan, G.; Santer, R.; Wassmer, E.; Zschocke, J.; Schiff, M.; Meirleir, L. de; Alowain, M.A.; Smeitink, J.A.M.; Morava, E.; Kozicz, L.T.; Wevers, R.A.; Wolf, N.I.; Willemsen, M.A.

    2015-01-01

    Pediatric movement disorders are still a diagnostic challenge, as many patients remain without a (genetic) diagnosis. Magnetic resonance imaging (MRI) pattern recognition can lead to the diagnosis. MEGDEL syndrome (3-MethylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome MIM #61473

  13. [A case of Avellis' syndrome with ipsilateral central facial palsy due to a small medullary infarction].

    Science.gov (United States)

    Takahashi, K; Kitani, M; Fukuda, H

    2000-04-01

    We report a 51-year-old man with mild left central facial palsy and left Avellis' syndrome due to a small medullary infarction. On admission, neurological examination revealed hoarseness, dysphasia, absent left gag reflex, palsies of the left vocal cord and left soft palate, and hypalgesia and thermohypesthesia on the right side of the trunk and extremities. In addition, he had a mild left central facial palsy. He had no nausea, vomiting, vertigo, hiccups, nystagmus, Horner's sign, facial numbness, or paresis or ataxia of the limbs. A T2 weighted MRI showed a small, high signal intensity area in the left dorsal region of the medulla and this lesion was presumed to involve the nucleus ambiguus and a part of the spinothalamic tract. These findings suggest that an aberrant supranuclear pathway, looping around the nucleus ambiguus to the facial nucleus exists in our patient.

  14. Mild Angelman syndrome phenotype due to a mosaic methylation imprinting defect.

    Science.gov (United States)

    Fairbrother, Laura C; Cytrynbaum, Cheryl; Boutis, Paula; Buiting, Karin; Weksberg, Rosanna; Williams, Charles

    2015-07-01

    Angelman syndrome (AS) is a neurogenetic disorder causing severe to profound intellectual disability, absent or very limited speech and a high risk for seizures. AS is caused by a loss of function of the maternally-derived UBE3A allele due to one of several mechanisms including imprinting defects (ImpDs). We present a girl with AS due to a mosaic ImpD who has relatively high developmental function (VABS-II composite score of 76) and communication skills (as demonstrated in supplemental video links). Given the patient's relatively mild developmental impairment, without clinical evidence of seizures, gait disturbance or inappropriate laughter, the diagnosis of AS was not initially suspected. Initial laboratory testing for AS was inconclusive but additional studies suggested mosaic ImpD and characteristic EEG findings provided further support for the clinical diagnosis. Our patient, along with other case reports of children with AS and relatively mild phenotypes, raises the question as to whether there exists an undiagnosed group of individuals with mild intellectual disability and expressive speech delays due to mosaic methylation defects of the chromosome 15q11.2-13 region. Population studies may be needed to determine if such an undiagnosed group exists. © 2015 Wiley Periodicals, Inc.

  15. Recurrent Fever of Unknown Origin (FUO Due to Periodic Fever, Aphthous Stomatititis, Pharyngitis and Adenitis (FAPA Syndrome in an Adult

    Directory of Open Access Journals (Sweden)

    Sigridh Muñoz-Gómez

    2013-08-01

    Full Text Available FAPA syndrome (periodic fever, aphthous stomatititis, pharyngitis and adenitis is a relatively new entity described in pediatric patients. In adults, reports of FAPA are limited to rare case reports. The differential diagnosis of FAPA in adults includes Behcet’s syndrome, familial Mediterranean fever (FMF, Hyper IgD syndrome and juvenile rheumatoid arthritis (JRA, i.e., adult Still’s disease. With FAPA syndrome, between episodes patients are completely asymptomatic and serologic inflammatory markers such as erythrocyte sedimentation rate (ESR, C-reactive protein (CRP and white blood cell (WBC count are normal. The etiology of FAFA is unknown, but lack of secondary cases or clustering in close contacts, lack of seasonality, and the lack of progression for years argue against an infectious etiology. We describe an extremely rare case of an adult with a recurrent FUO with profuse night sweats and prominent chills due to FAPA syndrome.

  16. Recurrent Fever of Unknown Origin (FUO) Due to Periodic Fever, Aphthous Stomatititis, Pharyngitis and Adenitis (FAPA) Syndrome in an Adult.

    Science.gov (United States)

    Muñoz-Gómez, Sigridh; Cunha, Burke A

    2013-08-19

    FAPA syndrome (periodic fever, aphthous stomatititis, pharyngitis and adenitis) is a relatively new entity described in pediatric patients. In adults, reports of FAPA are limited to rare case reports. The differential diagnosis of FAPA in adults includes Behcet's syndrome, familial Mediterranean fever (FMF), Hyper IgD syndrome and juvenile rheumatoid arthritis (JRA), i.e., adult Still's disease. With FAPA syndrome, between episodes patients are completely asymptomatic and serologic inflammatory markers such as erythrocyte sedimentation rate (ESR), C-reactive protein (CRP) and white blood cell (WBC) count are normal. The etiology of FAFA is unknown, but lack of secondary cases or clustering in close contacts, lack of seasonality, and the lack of progression for years argue against an infectious etiology. We describe an extremely rare case of an adult with a recurrent FUO with profuse night sweats and prominent chills due to FAPA syndrome.

  17. Leigh's Disease

    Science.gov (United States)

    ... Related Dementias Bioengineering Epilepsy Health Disparities Neural Interfaces Parkinson's Disease Spinal Cord Injury Stem Cells Traumatic Brain Injury Trans-Agency Activities Interagency Research ...

  18. Chiral primaries in the Leigh-Strassler deformed N=4 SYM -- a perturbative study

    CERN Document Server

    Madhu, K; Madhu, Kallingalthodi; Govindarajan, Suresh

    2007-01-01

    We look for chiral primaries in the general Leigh-Strassler deformed N=4 super Yang-Mills theory by systematically computing the planar one-loop anomalous dimension for single trace operators up to dimension six. The operators are organised into representations of the trihedral group, \\Delta(27), which is a symmetry of the Lagrangian. We find an interesting relationship between the U(1)_R-charge of chiral primaries and the representation of \\Delta(27) to which the operator belongs. Up to scaling dimension \\Delta_0=6 (and conjecturally to all dimensions) the following holds: The planar one-loop anomalous dimension vanishes only for operators that are in the singlet or three dimensional representations of \\Delta(27). For other operators, the vanishing of the one-loop anomalous dimension occurs only in a sub-locus in the space of couplings.

  19. The Coulomb branch of the Leigh-Strassler deformation and matrix models

    CERN Document Server

    Benini, F

    2004-01-01

    The Dijkgraaf-Vafa approach is used in order to study the Coulomb branch of the Leigh-Strassler massive deformation of N=4 SYM with gauge group U(N). The theory has N=1 SUSY and an N-dimensional Coulomb branch of vacua, which can be described by a family of ``generalized'' Seiberg-Witten curves. The matrix model analysis is performed by adding a tree level potential that selects particular vacua. The family of curves is found: it consists of order N branched coverings of a base torus, and it is described by multi-valued functions on the latter. The relation between the potential and the vacuum is made explicit. The gauge group SU(N) is also considered. Finally the resolvents from which expectation values of chiral operators can be extracted are presented.

  20. Association between anxiety and depression in patients with acute coronary syndromes due to financial crisis.

    Science.gov (United States)

    Lampropoulos, Kostandinos; Kavvouras, Charalampos; Megalou, Aikaterini; Tsikouri, Pinelopi; Kafkala, Chrysanthi; Derka, Dimitra; Bonou, Maria; Barbetseas, John

    2016-01-01

    The effect of anxiety and depression on patients with acute coronary syndromes (ACS) warrants investigation, especially during periods of economic crisis. To investigate the relation between anxiety and depression in patients presenting with ACS due to financial crisis and to investigate whether these two entities could predict long-term cardiovascular mortality. Anxiety and depression symptoms were assessed in 350 patients (210 men) presenting with ACS, with 70 (20%) patients showing elevated scores (Hellenic Heart Failure Protocol). Over a mean follow-up of 48 months there were 36 (10%) cardiovascular deaths. Cox proportional hazards models adjusted for other prognostic factors (including age, sex, marital status, creatinine levels, left ventricular ejection fraction, heart failure, atrial fibrillation, previous hospitalisation, and baseline medications) showed that elevated anxiety and depression scores significantly predicted cardiovascular mortality (primary outcome) and all-cause mortality. Elevated anxiety and depression symptoms are related to cardiovascular mortality due probably to financial crisis, even after adjustment for other prognostic indicators in patients with ACS, who received optimised medical treatment.

  1. Morquio A syndrome due to maternal uniparental isodisomy of the telomeric end of chromosome 16.

    Science.gov (United States)

    Catarzi, S; Giunti, L; Papadia, F; Gabrielli, O; Guerrini, R; Donati, M A; Genuardi, M; Morrone, A

    2012-03-01

    Morquio A syndrome (MPS IVA) is a recessive lysosomal storage disorder (LSD) caused by mutations in the GALNS gene leading to the deficiency of lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Patients show a broad spectrum of phenotypes ranging from classical severe type to mild forms. Classical forms are characterized by severe bone dysplasia and usually normal intelligence. So far, more than 170 unique mutations have been identified in the GALNS gene of MPS IVA patients. We report on a Morquio A patient with a classical phenotype who was found to be homozygous for a missense mutation (c.236 G>A; p.Cys79Tyr) in the GALNS gene. This alteration affects the highly conserved p.Cys79 that is transformed into formylglycine, the catalytic residue of the active site. The mutation was present in the proband's mother, but not in the father, whose paternity was confirmed by microsatellite analysis. In order to test the hypothesis of maternal uniparental disomy (UPD), we investigated the segregation of sixteen microsatellite markers from chromosome 16. The results showed a condition of maternal UPD due to an error in meiosis I. Maternal isodisomy of the 16q24 region led to homozygosity for the GALNS mutant allele, causing the patient's disease. These findings allow to add for the first time the LSD Morquio A syndrome to the list of conditions that can be caused by UPD. The possibility of UPD is relevant when giving genetic counseling to couples since the recurrent risk in future pregnancies is dramatically reduced.

  2. Greater trochanteric pain syndrome due to tumoral calcinosis in a patient with chronic kidney disease.

    Science.gov (United States)

    Baek, Dongjin; Lee, Sang Eun; Kim, Woo-Jin; Jeon, Sanghoon; Lee, Kihwa; Jung, Jaewook; Joo, Hyunchul; Park, Jaehong; Kim, Yonghan; Choi, Young-gyun

    2014-01-01

    Tumoral calcinosis is a rare syndrome characterized by massive subcutaneous soft tissue deposits of calcium phosphate near the large joints. It is more prevalent in patients with chronic kidney disease undergoing dialysis. A 57-year-old woman was referred to our pain clinic with the complaint of severe pain in the left buttock and lateral hip. The patient had been suffering from chronic kidney disease for 10 years and had been undergoing peritoneal dialysis over the past 5 years. The patient's symptom was initially suspected to be of lumbar origin at the L5 level and a left L5 transforaminal epidural block was performed, but without success. Re-evaluation of the physical examination revealed severe tenderness over the left greater trochanter and piriformis muscle. On ultrasonographic evaluation, multiple mass-like lesions in the left buttock were observed. About 30 mL of fluid was aspirated from the cystic lesions, followed by 30 mL mixture of 0.08% levobupivacaine and triamcinolone 40 mg injected into the bursa under ultrasound guidance, which brought pain relief. Trochanteric bursitis was thought of as the cause of the symptoms. The patient was diagnosed with tumoral calcinosis based on the past medical history, simple plain radiographs, and hip magnetic resonance imaging (MRI). We diagnosed a case of greater trochanteric pain syndrome due to tumoral calcinosis related to chronic kidney disease in a patient whose symptoms had initially been considered to be radiating leg pain caused by lumbar spinal disease. We report our experience of symptomatic improvement following the repeated ultrasound-guided aspiration of calcific fluid and the injection of a mixture of local anesthetic and steroid.

  3. Malnutrition and inflammation in acute kidney injury due to earthquake-related crush syndrome

    Directory of Open Access Journals (Sweden)

    Zhang Yue

    2010-03-01

    Full Text Available Abstract Background Malnutrition and inflammation are common and serious complications in patients with acute kidney injury (AKI. However, the profile of these complications in patients with AKI caused by crush syndrome (CS remains unclear. This study describes the clinical characteristics of malnutrition and inflammation in patients with AKI and CS due to the Wenchuan earthquake. Methods One thousand and twelve victims and eighteen healthy adults were recruited to the study. They were divided into five groups: Group A was composed of victims without CS and AKI (904 cases; Group B was composed of patients with CS and AKI who haven't received renal replacement therapy (RRT (57 cases; and Group C was composed of patients with CS and AKI receiving RRT (25 cases; Group D was composed of earthquake victims with AKI but without CS (26 cases; and Group E was composed of 18 healthy adult controls. The C-reactive protein (CRP, prealbumin, transferrin, interleukin-6 and TNF-α were measured and compared between Group E and 18 patients from Group C. Results The results indicate that participants in Group C had the highest level of serum creatinine, blood urea nitrogen and uric acid. Approximately 92% of patients with CS who had RRT were suffering from hypoalbuminemia. The interleukin-6 and CRP levels were significantly higher in patients with CS AKI receiving RRT than in the control group. Patients in Group C received the highest dosages of albumin, plasma or red blood cell transfusions. One patient in Group C died during treatment. Conclusions Malnutrition and inflammation was common in patients with earthquake-related CS and had a negative impact on the prognosis of these subjects. The results of this study indicate that the use of RRT, intensive nutritional supplementation and transfusion alleviated the degree of malnutrition and inflammation in hemodialysis patients with crush syndrome.

  4. Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G > A mitochondrial DNA mutation: a case report

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    Moggio Maurizio

    2011-07-01

    Full Text Available Abstract Background Leigh Syndrome (LS is a severe neurodegenerative disorder characterized by bilateral symmetrical necrotic lesions in the basal ganglia and brainstem. Onset is in early infancy and prognosis is poor. Causative mutations have been disclosed in mitochondrial DNA and nuclear genes affecting respiratory chain subunits and assembly factors. Case presentation Here we report the clinical and molecular features of a 15-month-old female LS patient. Direct sequencing of her muscle-derived mtDNA revealed the presence of two apparently homoplasmic variants: the novel m.14792C > G and the already known m.14459G > A resulting in p.His16Asp change in cytochrome b (MT-CYB and p.Ala72Val substitution in ND6 subunit, respectively. The m.14459G > A was heteroplasmic in the mother's blood-derived DNA. Conclusions The m.14459G > A might lead to LS, complicated LS or Leber Optic Hereditary Neuropathy. A comprehensive re-evaluation of previously described 14459G > A-mutated patients does not explain this large clinical heterogeneity.

  5. Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review

    OpenAIRE

    Andrade, Luis Jesuino de Oliveira; Andrade, Rafael; França, Caroline Santos; Bittencourt,Alcina Vinhaes

    2009-01-01

    Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with clinical and genetic heterogeneity. This syndrome was first described by Laurence and Moon in 1866 and additional cases were described by Bardet and Biedl between 1920 and 1922. The main features are obesity, polydactyly, pigmentary retinopathy, learning disabilities, various degrees of intellectual impairment, hypogonadism, and renal abnormalities. Bardet-Biedl syndrome is both phenotypically and genetically heterogeneou...

  6. Cerebral salt-wasting syndrome due to hemorrhagic brain infarction: a case report

    OpenAIRE

    Tanaka, Tomotaka; Uno, Hisakazu; Miyashita, Kotaro; Nagatsuka, Kazuyuki

    2014-01-01

    Introduction Cerebral salt-wasting syndrome is a condition featuring hyponatremia and dehydration caused by head injury, operation on the brain, subarachnoid hemorrhage, brain tumor and so on. However, there are a few reports of cerebral salt-wasting syndrome caused by cerebral infarction. We describe a patient with cerebral infarction who developed cerebral salt-wasting syndrome in the course of hemorrhagic transformation. Case presentation A 79-year-old Japanese woman with hypertension and ...

  7. Assessment of the Personal Losses Suffered by Correctional Officers due to Burnout Syndrome.

    Science.gov (United States)

    Stoyanova, R G; Harizanova, S N

    2016-01-01

    Professional burnout is defined as a state of depletion and loss of motivation accompanied by different mental and physical symptoms. To assess personal losses suffered by correctional officers due to burnout. This cross-sectional study conducted between June and December 2012 included 201 correctional officers in two Bulgarian prisons. The mean age of the whole group was 41.2 (SD 8.0) years. The respondents was mostly male (56.7%), married (72.6%), had a secondary educational level (61.7%), and 76.1% of them had been in current prison work over 5 years. The demographic characteristics had no influence on the occurrence of burnout but there was a correlation between level of burnout and the number of sick-leaves, the need for medical help, and the expenses spent on medications. Officers affected by burnout took more sick-leaves and this affected adversely their remuneration as they lost 3.1% of their annual wages. Their expenses spent on user fees for medical services were 3 times higher. Their monthly expenses spent on medications were 3.14 times higher than those of people without the burnout syndrome. The high level of burnout has a negative personal economic effect on the prison employees.

  8. Recurrent Syncope Due to Carotid Sinus Hypersensitivity and Sick Sinus Syndrome

    Directory of Open Access Journals (Sweden)

    Feng-Yu Kuo

    2008-10-01

    Full Text Available Syncope is a sudden and brief loss of consciousness with postural tone. Its recovery is usually spontaneous. There are various causes of syncope including cardiac, vascular, neurologic, metabolic and miscellaneous origins. The tracing is usually time-consuming and costly. The diagnosis of carotid sinus syncope may sometimes be difficult since the symptoms are nonspecific, especially in older persons. Here, we report the case of a 72-year-old woman who sought medical attention at our hospital due to repeated syncope episodes over the previous 5 years. Neurologic examinations showed negative results (including brain computed tomography. Twenty-four-hour ambulatory electrocardiogram monitoring showed atrial and ventricular premature contractions only. Electrophysiologic study disclosed prolonged corrected sinus node recovery time (1,737 ms with poor atrioventricular conduction. Drop of blood pressure together with sinus bradycardia developed after left side carotid sinus massage. Both carotid sinus hypersensitivity with sick sinus syndrome contributed to this patient's syncope, and after pacemaker placement together with selective serotonin reuptake inhibitor treatment, she was free from syncope thereafter.

  9. Anemia Due to Inflammation in an Anti-Coagulated Patient with Blue Rubber Bleb Nevus Syndrome.

    Science.gov (United States)

    Bonaventura, Aldo; Liberale, Luca; Hussein El-Dib, Nadia; Montecucco, Fabrizio; Dallegri, Franco

    2016-01-01

    Blue rubber bleb nevus syndrome (BRBNS) is a rare disease characterized by vascular malformations mostly involving skin and gastrointestinal tract. This disease is often associated with sideropenic anemia and occult bleeding. We report the case of chronic severe anemia in an old patient under oral anticoagulation treatment for chronic atrial fibrillation. At admission, the patient also presented fever and increased laboratory parameters of systemic inflammation (ferritin 308 mcg/L, C-reactive protein (CRP) 244 mg/L). A small bluish-colored lesion over the left ear lobe was observed. Fecal occult blood test was negative as well as other signs of active bleeding. Lower gastrointestinal endoscopy revealed internal hemorrhoids and multiple teleangiectasias that were treated with argon plasma coagulation. Videocapsule endoscopy demonstrated multiple bluish nodular lesions in the small intestine. Unexpectedly, chronic severe anemia due to systemic inflammation was diagnosed in an old anticoagulated patient with BRNBS. The patient was treated with blood transfusions, hydration, antibiotic treatment, and long-acting octreotide acetate, without stopping warfarin. Fever and inflammation disappeared without any acute gastrointestinal bleeding and improvement of hemoglobin levels at three-month follow up. This is the oldest patient presenting with chronic anemia, in which BRNBS was also diagnosed. Surprisingly, anemia was mainly caused by systemic inflammation instead of chronic gastrointestinal bleeding. However, we would recommend investigating this disease also in old subjects with mild signs and symptoms.

  10. [Acute confusional syndrome in elderly patients hospitalized due to medical condition].

    Science.gov (United States)

    Formiga, F; Marcos, E; Sole, A; Valencia, E; Lora-Tamayo, J; Pujol, R

    2005-10-01

    Delirium or acute confusional syndrome (ACS) is a frequent problem during hospitalization of elderly patients. We study the appearance of delirium and its characteristics in patients admitted to an internal medicine service. Prospective study of 148 patients over 64 years admitted due to medical condition (non-surgical) in the internal medicine service of the University Hospital of Bellvitge. Functionality was quantified with the Barthel index (BI) and comorbidity with the Charlson index (CI). The Confusional Assessment Method was used for the diagnosis of the ACS. Seventy-seven (77) (52%) of the 148 patients were women, with a mean age of 78.5 years. The CI was 2.2. Mean of previous BI was 81.7. Mortality during admission was 8% (12 patients). A total of 42.5% of the patients (63) had ACS (30% prevalent). It was hyperactive in 68%, hypoactive in 16% and mixed in 16%. In 38% of the patients, the ACS had morning predominance and 62% it appeared after the evening. Advanced age was the only significant differences between patients with or without ACS (p patients who survived or who died (p = 0.36). Frequency of appearance of the confusional picture is high in patients admitted to acute hospitals, it being more frequent in the elderly. Measures to prevent the confusional picture in elderly patients who are hospitalized should be increased.

  11. Assessment of the Personal Losses Suffered by Correctional Officers due to Burnout Syndrome

    Directory of Open Access Journals (Sweden)

    RG Stoyanova

    2016-01-01

    Full Text Available Background: Professional burnout is defined as a state of depletion and loss of motivation accompanied by different mental and physical symptoms. Objective: To assess personal losses suffered by correctional officers due to burnout. Methods: This cross-sectional study conducted between June and December 2012 included 201 correctional officers in two Bulgarian prisons. The mean age of the whole group was 41.2 (SD 8.0 years. The respondents was mostly male (56.7%, married (72.6%, had a secondary educational level (61.7%, and 76.1% of them had been in current prison work over 5 years. Results: The demographic characteristics had no influence on the occurrence of burnout but there was a correlation between level of burnout and the number of sick-leaves, the need for medical help, and the expenses spent on medications. Officers affected by burnout took more sick-leaves and this affected adversely their remuneration as they lost 3.1% of their annual wages. Their expenses spent on user fees for medical services were 3 times higher. Their monthly expenses spent on medications were 3.14 times higher than those of people without the burnout syndrome. Conclusion: The high level of burnout has a negative personal economic effect on the prison employees.

  12. Tolvaptan Treatment in Syndrome of Inappropriate ADH Secretion due to Small Cell Lung Cancer

    Directory of Open Access Journals (Sweden)

    Mucahit Gur

    2014-06-01

    Full Text Available Experience of ADH receptor antagonist (-vaptanes treatment in hyponatremia in malign patient is very limited. 68 years old male patient admitted to our department with a complain of nause, vomitting and epigastric pain. He has advanced stage of small cell lung cancer. He had treated with cisplatin and etoposide regimen 10 days ago as a first cure. We diagnosed inapropriate secretion of antidiuretic hormone syndrome (SIADH with low sodium level (118 meq/dl. Although the treatment with water restriction and 3% NaCl infusion, sodium level was not in normal. So we ordered 30 mg tolvaptan tablet. And then sodium levels were reached normal. After one month of discharge from hospital, he has hospitilized with same symptom and diagnosis. And again we ordered same treatment procedure and tolvaptane treatment. He had normal sodium (136 mEq/dl level during his follow up. This case demostrate that tolvaptane treatment is suitable aproaches in hyponatremia due to SIADH in oncologic patient.

  13. Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease

    Directory of Open Access Journals (Sweden)

    Julie Harvengt

    2014-01-01

    Full Text Available A 1-year-old girl born to consanguineous parents presented with unexplained liver failure, leading to transplantation at 19 months. Subsequent partial splenectomy for persistent cytopenia showed the presence of foamy cells, and Gaucher disease was confirmed by homozygosity for the p.Leu483Pro mutation in the GBA gene. She was treated by enzyme replacement therapy (ERT. Clinical follow-up showed mild developmental delay, strabismus, nystagmus and oculomotor apraxia. Biochemical studies revealed multiple respiratory chain deficiencies and a mosaic pattern of deficient complex IV immunostaining in liver and fibroblast. Molecular analysis identified a mtDNA depletion syndrome due to the homozygous p.Pro98Leu mutation in MPV17. A younger sister unaffected by mtDNA depletion, presented with pancytopenia and hepatosplenomegaly. ERT for Gaucher disease resulted in visceral normalization without any neurological symptom. A third sister, affected by both conditions, had marked developmental delay, strabismus and ophthalmoplegia but no liver cirrhosis. In conclusion, intrafamilal variability occurs in MPV17-related disease. The combined pathological effect of Gaucher and mitochondrial diseases can negatively impact neurological and liver functions and influence the outcome in consanguineous families. The immunocytochemical staining of OXPHOS protein in tissues and cultured cells is a powerful tool revealing mosaic pattern of deficiency pointing to mtDNA-related mitochondrial disorders.

  14. [Immune reconstitution syndrome due to BCG in HIV-treated children].

    Science.gov (United States)

    Miranda-Choque, Edwin; Candela-Herrera, Jorge; R Segura, Eddy; Farfán-Ramos, Sonia; Barriga, Aldo

    2012-01-01

    The objective of this study is to describe the clinical profile of the immune reconstitution syndrome due to Mycobacterium bovis Bacillus Calmette-Guérin (IRS-BCG) in children with HIV infection who receive highly active antiretroviral treatment (HAART) at Instituto Nacional de Salud del Niño de Lima (National Children's Health Institute of Lima), Peru. A case study was conducted, including 8 children with IRS-BCG, defined as the presence of regional lymphadenopathy or inflammation on the BCG vaccination site with at least one less logarithm in the viral load or immune improvement. All patients had AIDS (C3). The starting median age in HAART was 7.2 months and the event occurred 3 to 11 weeks after the treatment was started. 7 cases showed axillary adenitis. When compared with the Non IRS-BCG group, a significant association between the age at which HAART was started at one year, severe immunodepression, and increased viral load was found. It is concluded that IRS-BCG was related to a rapid clinical progression of the mother-to-child transmitted HIV/AIDS infection, severe immunosuppression and high viral load when the HAART began.

  15. Mitochondrial depletion causes neonatal-onset leigh syndrome, myopathy, and renal tubulopathy.

    Science.gov (United States)

    Lee, Inn-Chi; Lee, Ni-Chung; Lu, Jang-Jih; Su, Pen-Hua

    2013-03-01

    The authors describe a newborn with postnatal myopathy who subsequently developed feeding difficulties, ophthalmoplegia, ptosis, encephalopathy, and seizures. She became ventilator dependent after sudden apnea. The myopathy was without ragged red fibers in the muscle biopsy. An electron transport chain study showed a markedly generalized low level of enzyme activity, particularly in complexes I, I + III, and IV. An initial electroencephalogram finding was normal; subsequent electroencephalograms showed suppression bursts. The mitochondrial copy number in skeletal muscle was 2% of normal.

  16. Graves' disease in a 3 year-old patient with agranulocytosis due to anti-thyroid drugs: Radioiodine ablation therapy as an effective alternative.

    Science.gov (United States)

    Espinosa-Muñoz, E; Ramírez-Ocaña, D; Martín-García, A M; Ruiz-García, F J; Puentes-Zarzuela, C

    The case is presented of a 3 year-old girl with mitochondrial disease (subacute necrotizing encephalomyelopathy of Leigh syndrome), v-stage chronic kidney disease of a diffuse mesangial sclerosis, as well as developmental disorders, and diagnosed with hyperthyroidism Graves-Basedow disease. Six weeks after starting the treatment with neo-carbimazole, the patient reported a serious case of agranulocytosis. This led to stopping the anti-thyroid drugs, and was treated successfully with (131)I ablation therapy. The relevance of the article is that Graves' disease is uncommon in the paediatric age range (especially in children younger than 6 years old), and developing complications due to a possible late diagnosis. Agranulocytosis as a potentially serious adverse effect following the use of anti-thyroid drugs, and the few reported cases of ablation therapy with (131)I at this age, makes this case unique. Copyright © 2017 Elsevier España, S.L.U. y SEMNIM. All rights reserved.

  17. Nephrotic syndrome due to immunoglobulin M mesangial glomerulonephritis preceding juvenile idiopathic arthritis.

    Science.gov (United States)

    Voyer, Luis E; Alvarado, Caupolican; Cuttica, Rubén J; Balestracci, Alejandro; Zardini, Marta; Lago, Néstor

    2013-05-21

    The association between nephrotic syndrome and juvenile idiopathic arthritis have rarely been described in pediatric patients. We report a child with steroid-responsive nephrotic syndrome, with frequent relapses, who presented with a new relapse of nephrotic syndrome associated with arthritis and uveitis at 21 months in remission after treatment with chlorambucil. Juvenile idiopathic arthritis was diagnosed and kidney biopsy examination showed mesangial glomerulonephritis with immunoglobulin M deposits. To our knowledge, only 2 cases of nephrotic syndrome preceding juvenile idiopathic arthritis have been reported, one without histopathology assessment and the other with minimal change disease. Although mesangial glomerulonephritis with nephrotic syndrome and juvenile idiopathic arthritis could have been coincidental, the immune pathogenic mechanism accepted for both diseases suggests they could be related.

  18. Sudden Cardiac Arrest due to Brugada Syndrome: a Case Report and Literature Review

    Directory of Open Access Journals (Sweden)

    R Soleimanirad

    2013-04-01

    Full Text Available Brugada Syndrome is a rare cause of sudden cardiac arrest and has a unique ECG pattern. In fact, with ST-segment elevation down sloping in the right precordial leads (v1-v3, RBBB pattern in lateral leads and J-point elevation is revealed. We must notice and avoid trigger factors of this syndrome during general anesthesia. Patient is a 39 old man who attended to emergency department with sudden cardiac arrest and resuscitate. He was transferred to ICU for management of hypoxic ischemic encephalopathy. Complementary studies concluded the diagnosis of Brugada syndrome. We must consider Brugada syndrome within patients with family history of sudden cardiac arrest. Moreover, we must avoid trigger factors of this syndrome such as fever, bradicardia and electrolyte abnormality (specialy Na, Ca abnormalities during general anesthesia and if they appear, we should treat them.

  19. Nephrotic Syndrome without Hematuria due to Infection-Related Glomerulonephritis Mimicking Minimal-Change Disease in a Child.

    Science.gov (United States)

    Iwafuchi, Yoichi; Morioka, Tetsuo; Morita, Takashi; Watanabe, Kanako; Oyama, Yuko; Narita, Ichiei

    2016-01-01

    Nephrotic syndrome without hematuria due to infection-related glomerulonephritis is uncommon. The present report describes a case of nephrotic syndrome due to infection-related glomerulonephritis without hematuria and hypertension in an older child. A 14-year-old boy was referred to our hospital because of a 5-day history of fever, nausea, weight gain and recent leg edema without hypertension. Laboratory data showed nephrotic-range proteinuria, hypoalbuminemia, mild hypocomplementemia and acute renal injury without hematuria. Although, due to the clinical presentation, minimal-change nephrotic syndrome was mostly suspected, a renal biopsy showed endocapillary hypercellularity mainly of mononuclear cells with segmental mesangiolytic changes. Fine granular IgG and C3 deposits were noted by an immunofluorescent study; many relatively small electron-dense deposits were observed electron-microscopically. These findings led to the diagnosis of nephrotic syndrome due to infection-related endocapillary proliferative glomerulonephritis, although the causative organism of his nephritis was not detected. He recovered with rest and dietary cure. When we examine an acute nephrotic child, infection-related glomerulonephritis should be considered as the differential diagnosis to avoid unnecessary use of corticosteroids.

  20. Risk of spontaneous pneumothorax due to air travel and diving in patients with Birt-Hogg-Dube syndrome

    NARCIS (Netherlands)

    Johannesma, P.C.; Beek, I. van de; Wel, J.W. van der; Paul, M.A.; Houweling, A.C.; Jonker, M.A.; Waesberghe, J.H. van; Reinhard, R.; Starink, T.M.; Moorselaar, R.J. van; Menko, F.H.; Postmus, P.E.

    2016-01-01

    BACKGROUND AND OBJECTIVES: Birt-Hogg-Dube syndrome is an autosomal dominant disorder characterized by skin fibrofolliculomas, lung cysts, spontaneous pneumothorax and renal cell cancer due to germline folliculin (FLCN) mutations (Menko et al. in Lancet Oncol 10(12):1199-1206, 2009). The aim of this

  1. PTOSIS DUE TO CAVERNOUS SINUS SYNDROME AS A RARE PRESENTATION OF ADVANCED BREAST METASTASIS IN A PATIENT WITH DELAYED DIAGNOSIS

    Directory of Open Access Journals (Sweden)

    KW Khaw

    2012-08-01

    Full Text Available Complications of breast cancer metastasis may be the first manifestation of the disease. We report a rare case of left eyeptosis secondary to cavernous sinus syndrome in a 34-year-old lady due to refusal of proper medical treatment for metastaticbreast cancer. The delay in seeking medical treatment was attributed to her use of Traditional Chinese Medicine (TCM.

  2. Three-Quarters Adrenalectomy for Infantile-Onset Cushing Syndrome due to Bilateral Adrenal Hyperplasia in McCune-Albright Syndrome.

    Science.gov (United States)

    Itonaga, Tomoyo; Goto, Hironori; Toujigamori, Manabu; Ohno, Yasuharu; Korematsu, Seigo; Izumi, Tatsuro; Narumi, Satoshi; Hasegawa, Tomonobu; Ihara, Kenji

    2017-05-19

    Bilateral adrenalectomy is performed in cases with infantile-onset Cushing syndrome due to bilateral adrenal hyperplasia in McCune-Albright syndrome (MAS) because severe Cushing syndrome with heart failure and liver dysfunction can have a lethal outcome. This procedure can completely ameliorate hypercortisolism, although lifetime steroid replacement therapy and steps to prevent adrenal crisis are necessary. Recently, the efficacy of unilateral adrenalectomy has been reported in adult cases of bilateral macronodular adrenal hyperplasia, but there is no consensus regarding the appropriate surgical treatment for bilateral adrenal hyperplasia in MAS. A 6-month-old girl presented with café-au-lait spots, short stature, central obesity, a moon face, and hypertension. Endocrinological tests and imaging studies led to the diagnosis of ACTH-independent Cushing syndrome due to bilateral adrenal hyperplasia induced by MAS. "Three-quarters adrenalectomy", namely right-sided total adrenalectomy and left-sided half adrenalectomy, was carried out. An activating mutation of the GNAS1 gene (p.Arg201Cys) was identified in the adrenal tissues. Since the operation, our patient has been in a state of clinical remission for more than 2 years. Our original surgical intervention, three-quarters adrenalectomy, may be a new treatment option for Cushing syndrome associated with MAS. © 2017 S. Karger AG, Basel.

  3. Ulnar nerve entrapment in Guyon's canal due to recurrent carpal tunnel syndrome: case report.

    Science.gov (United States)

    Ozdemir, Ozgur; Calisaneller, Tarkan; Gulsen, Salih; Caner, Hakan

    2011-01-01

    Guyon's canal syndrome is a compression neuropathy of the ulnar nerve entrapment at the wrist. Compression of the ulnar nerve at the wrist by a ganglion, lipomas, diseases of the ulnar artery, fractures of the hamate and trauma are common etiologcal factors. Unlike Guyon's canal syndrome, carpal tunnel syndrome (CTS) is the most common nerve entrapment of the upper extremity. Although, open (OCTR) or endoscopic carpal tunnel release (ECTR) is highly effective in relieving pain, failure with carpal tunnel release is seldom seen. In this paper, we presented a patient with ulnar nerve entrapment associated with recurrent CTS and discussed the possible pathomechanism with a review of current literature.

  4. A Rare Combination: Congenital Adrenal Hyperplasia Due To 21 Hydroxylase Deficiency and Turner Syndrome

    Science.gov (United States)

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

    2012-01-01

    A combination of Turner syndrome (TS) and classical congenital adrenal hyperplasia (CAH) is rare. A one-day-old newborn was referred to our hospital with ambiguous genitalia. The parents were third-degree relatives. The infant’s weight was 3350g (50-75p), and the head circumference was 34.5cm (50p). The gonads were nonpalpable. Presence of a 3 cm phallus, one urogenital opening into the perineum, and incomplete labial fusion were identified. Laboratory tests revealed a classical type of CAH due to 21-hydroxylase deficiency. Karyotyping revealed a 45X0(35)/46XX(22) pattern with negative sex-determining region Y (SRY) on gene analysis. At the most recent follow-up visit, the patient appeared to be in good health - her height was 70.4 cm [-1.5 standard deviation (SD)] and her weight was 9.8 kg (0.3 SD). She was receiving hydrocortisone in a dose of 10 mg/m2/day, fludrocortisone acetate in a dose of 0.075 mg/day, and oral salt of 1 g/day. System examinations were normal. The patient’s electrolyte levels were found to be normal and she was in good metabolic control. The findings of this patient demonstrate that routine karyotyping during investigation of patients with sexual differentiation disorders can reveal TS. Additionally, signs of virilism should always be investigated at diagnosis or during physical examinations for follow-up of TS cases. [i][/i]SRY analysis should be performed primarily when signs of virilism are observed. CAH should also be considered in patients with negative [i]SRY[/i]. Conflict of interest:None declared. PMID:23261864

  5. Specific MRI abnormalities reveal severe Perrault syndrome due to CLPP defects

    Directory of Open Access Journals (Sweden)

    Tom EJ Theunissen

    2016-11-01

    Full Text Available In establishing a genetic diagnosis in heterogeneous neurological disease, clinical characterization and whole exome sequencing (WES go hand-in-hand. Clinical data are essential, not only to guide WES variant selection and define the clinical severity of a genetic defect, but also to identify other patients with defects in the same gene. In an infant patient with sensorineural hearing loss, psychomotor retardation and epilepsy, WES resulted in identification of a novel homozygous CLPP frameshift mutation (c.21delA. Based on the gene defect and clinical symptoms, the diagnosis Perrault syndrome type 3 (PRLTS3 was established. The patient’s brain-MRI revealed specific abnormalities of the subcortical and deep cerebral white matter and the middle blade of the corpus callosum, which was used to identify similar patients in the Amsterdam brain-MRI database, containing over 3000 unclassified leukoencephalopathy cases. In three unrelated patients with similar MRI abnormalities the CLPP gene was sequenced, and in two of them novel missense mutations were identified together with a large deletion that covered part of the CLPP gene on the other allele. The severe neurological and MRI-abnormalities in these young patients were due to the drastic impact of the CLPP mutations, correlating with the variation in clinical manifestations among previously reported patients. Our data shows that similarity in brain-MRI patterns can be used to identify novel PRLTS3 patients, especially during early disease stages, when only part of the disease manifestations are present. This seems especially applicable to the severely affected cases in which CLPP function is drastically affected and MRI abnormalities are pronounced.

  6. Refractory rickets due to Fanconi′s Syndrome secondary to Wilson′s disease

    Directory of Open Access Journals (Sweden)

    Chitra Selvan

    2012-01-01

    Full Text Available Renal tubular disorders are an important cause of refractory rickets. Wilson′s disease, an inherited disorder of copper metabolism has varied presentations. We present a case of refractory rickets due to Fanconi′s syndrome attributable to Wilson′s disease. An adolescent girl presented with pain in the hip and knee joints and a knock-knee deformity since six years. She had received multiple doses of cholecalciferol with little improvement. There was no history of seizures, polyuria, jaundice, intake of drugs, or similar complaints in the family. Examination revealed a severely short stature with widening of the wrist joint and genu valgum. Examination of the central nervous system (CNS was normal. Skeletal radiographs showed features suggestive of rickets at the hip and knee joints. Routine biochemistry was normal, 25-hydroxyvitamin D [25(OHD] was adequate (57.1 ng/dL, with normal corrected calcium (9.24 mg/dL, low phosphate (2.76 mg/dL, elevated bone-specific alkaline phosphatase, and normal renal functions. Twenty-four-hour urine revealed phosphaturia, kaliuresis, and glucosuria with normal blood sugars and aminoaciduria. Blood gas analysis revealed normal anion gap metabolic acidosis with a urine pH of 7. Ammonium chloride (NH 4 CL challenge test revealed proximal tubular acidosis. A search for causes revealed Kayser-Fleischer rings. The diagnosis of Wilson′s disease was confirmed by low serum ceruloplasmin levels (6.5 mg/dL; normal: 18-35 mg/dL with high 24-hour urine copper levels (433 mcg; normal: 20-50 mcg. She was started on a replacement of alkali, phosphate, calcium, and vitamin D, with zinc acetate for Wilson′s disease. Rickets as a presenting feature of Wilson′s disease has been reported rarely. Recognition of this entity is important, as treatment of the primary condition may improve tubular function as well.

  7. Rapid Death Due to Alcohol Withdrawal Syndrome: Case Report and Review of Literature

    Directory of Open Access Journals (Sweden)

    Rahul Mohanrao Band

    2015-03-01

    Full Text Available Background: Alcohol withdrawal syndrome (AWS is one of the most serious complications associated with chronic alcoholism. Sudden deaths are not uncommon in AWS. In severe stages of AWS, delirium tremens (DT occurs, which is characterized with agitation, global confusion, disorientation, visual and auditory hallucinations in addition to autonomic hyperactivity. Case report: A 30-year old man, chronic and heavy alcohol drinker for 10 years, abstained from alcohol for 3 days. Consequently, he started having palpitations, sweating and tremors. A day later, he was found having hallucinations and delirium. The patient was immediately transferred to the hospital. On admission, he was stuporous and had difficulty in breathing. He developed generalized seizures later on. He was successfully intubated, but there was bleeding through it. The patient’s condition deteriorated very rapidly and he died within two hours. After death, his body was transferred to forensic department. In autopsy, gastrointestinal tract was found to be intact. Massive pulmonary hemorrhage was present on cut section. Liver was found to be with yellowish discoloration and early cirrhotic changes. In heart, left ventricular hypertrophy with narrowed lumen was present and coronary arteries were patent. Discussion: Alcoholism is associated with liver dysfunction and especially in final phases with cirrhosis. Hence and due to resultant coagulopathy, patients are vulnerable to internal bleedings. Hypertrophic cardiomyopathy also occurs in chronic alcoholics. Therefore, we can speculate that our patient developed pulmonary hemorrhage as a result of combined effect of coagulopathy secondary to cirrhosis, alveolar damage (seizure and artificial ventilation and congestive heart failure. Conclusion: For a patient with delirium, convulsions, respiratory distress and coagulopathy, diagnosis of DT should be kept in mind.

  8. [Children less than 3 months hospitalised due to acute febrile syndrome. 5 years clinical experience].

    Science.gov (United States)

    Méndez Espinola, Benigno Miguel; Herrera Labarca, Patricio

    2015-01-01

    Acute fever of unknown origin (AFUO) is established when the anamnesis and physical examination cannot identify the cause. In infants less than 3 months-old this is situation for concern, due to the risk of a serious bacterial infection. To describe the clinical and laboratory variable of patients with AFUO, in order to look for clues in order to base studies on the decisions arising drom this problem. A report is presented on a retrospective study conducted on a cohort of children less than three months-old admitted to the Hospital Roberto del Río (2007-2011) due to an AFUO. Clinical histories were reviewed and the patients were grouped, according to the severity of the admission diagnosis, into severe and non-severe. They were compared in strata determined by the variables of clinical interest. A total of 550 children were admitted with AFUO during the study period. There was low agreement between the severity on admission and at discharge (kappa=0.079; P=.26). There were 23.8% of children in the severe group and 76.2% in the non-severe group. Urinary tract infection predominated in the severe group (68.7%) and 40.7% with acute febrile syndrome in the non-severe group. The cut-off levels for C-reactive protein, white cells, and neutrophils per mm(3), to calculate the fixed and variable indices, only showed negative predictive values of some use for ruling out serious bacterial infection. The ROC curves with white cell and neutrophil counts and C-reactive protein, did not provide andy fixed indices of clinical use. More than one-third (34.6%) of lumbar punctures were traumatic or failures. According to the results of this study, there is an obvious excess of hospital admissions, little usefulness in the examinations to identify serious bacterial infection, a high percentage lumbar punctures traumatic and lumbar punctures failures, and an excess of antibiotic treatments. A review of clinical criteria and procedures is needed. Copyright © 2015 Sociedad Chilena de

  9. Anton’s Syndrome due to Bilateral Ischemic Occipital Lobe Strokes

    Directory of Open Access Journals (Sweden)

    Sanela Zukić

    2014-01-01

    Full Text Available We present a case of a patient with Anton’s syndrome (i.e., visual anosognosia with confabulations, who developed bilateral occipital lobe infarct. Bilateral occipital brain damage results in blindness, and patients start to confabulate to fill in the missing sensory input. In addition, the patient occasionally becomes agitated and talks to himself, which indicates that, besides Anton’s syndrome, he might have had Charles Bonnet syndrome, characterized by both visual loss and hallucinations. Anton syndrome, is not so frequent condition and is most commonly caused by ischemic stroke. In this particular case, the patient had successive bilateral occipital ischemia as a result of massive stenoses of head and neck arteries.

  10. Occult Breast Cancer due to Multiple Calcified Hamartomas in a Patient with Cowden Syndrome

    NARCIS (Netherlands)

    Gomez Garcia, E.B.; Lobbes, M.B.; van de Vijver, K.; Keymeulen, K.; van der Ent, F.; Yntema, H.G.; Tjan-Heijnen, V.C.; Boetes, C.

    2012-01-01

    Cowden syndrome (CS) is an autosomal dominant disorder characterized by presence of multiple hamartomas, and other benign and malignant abnormalities of the breasts, skin, thyroid, endometrium, gastrointestinal tract, and central nervous system. Hamartomas are benign, developmentally disorganized

  11. Acute Liver Failure Due to Budd-Chiari Syndrome in the Setting of Cardiac Synovial Sarcoma

    OpenAIRE

    Stine, Jonathan G.; Newton, Kelly; Vinayak, Ajeet G

    2015-01-01

    Primary malignant tumors of the heart, specifically cardiac sarcomas, are rare and mainly diagnosed at autopsy. Acute Budd-Chiari syndrome is a recognized cause of acute liver failure and has been associated with several rare cardiac tumors: atrial myxoma, caval rhabdomyosarcoma, and primary cardiac adenocarcinoma. We present the first case of a fatal, highly differentiated cardiac synovial sarcoma that presented as acute liver failure from Budd-Chiari syndrome.

  12. Phenotypic Analysis of Individuals With Costello Syndrome due to HRAS p.G13C

    OpenAIRE

    Gripp, Karen W.; Hopkins, Elizabeth; Sol-Church, Katia; Stabley, Deborah L.; Axelrad, Marni E.; Doyle, Daniel; Dobyns, William B; Hudson, Cindy; Johnson, John; Tenconi, Romano; Graham, Gail E.; Sousa, Ana Berta; Heller, Raoul; Piccione, Maria; Corsello, Giovanni

    2011-01-01

    Costello syndrome is characterized by severe failure-to-thrive, short stature, cardiac abnormalities (heart defects, tachyarrhythmia, and hypertrophic cardiomyopathy (HCM)), distinctive facial features, a predisposition to papillomata and malignant tumors, postnatal cerebellar overgrowth resulting in Chiari 1 malformation, and cognitive disabilities. De novo germline mutations in the proto-oncogene HRAS cause Costello syndrome. Most mutations affect the glycine residues in position 12 or 13, ...

  13. Lethal progressive thoracic insufficiency in a neonate due to jarcho levin syndrome.

    Science.gov (United States)

    Bhutia, Euden; Maria, Arti; Verma, Arushi; Sethi, Sidharth Kumar

    2014-01-01

    A rare case of Jarcho Levin syndrome (JLS) presenting as a lethal progressive respiratory insufficiency in early neonatal period is reported. The neonate had classical features of this syndrome including vertebral segmentation defects, typical costo-vertebral fusion defects and scoliosis resulting in small thoracic volume and limited chest expansion; all consistent with a clinical diagnosis of JLS with thoracic insufficiency. In addition, our case had a rare association of dextrocardia and acyanotic congenital heart disease.

  14. Síndrome de Lyell por imipramina: relato de caso Lyell syndrome due to imipramine: case report

    Directory of Open Access Journals (Sweden)

    Vanderson Glerian Dias

    2004-12-01

    Full Text Available O objetivo do artigo é relatar o caso de uma paciente de 43 anos com síndrome de Lyell relacionada à ingestão de imipramina e mostrar as alterações corneanas associadas a lesões dermatológicas típicas da síndrome de Lyell, que melhoraram após suspender o uso de imipramina e tratamento adequado. O oftalmologista deve estar apto para reconhecer, tratar e conduzir adequadamente os casos de síndrome de Lyell.The purpose is to describe a case of a 43-year-old patient with Lyell syndrome due to imipramine and to show the corneal alterations and dermatological lesions typical for Lyell syndrome that healed after imipramine discontinuation and adequate treatment. The ophthalmologist must be able to recognize, treat and adequately follow Lyell syndrome cases.

  15. Sweet Syndrome due to Myelodysplastic Syndrome: Possible Therapeutic Role of Intravenous Immunoglobulin in Addition to Standard Treatment

    Directory of Open Access Journals (Sweden)

    Harry H. S. Gill

    2010-01-01

    Full Text Available We report an 82-year-old lady who developed sudden onset nodular and erythematous lesions and neutrophilia following an episode of urinary tract infection. Skin biopsy confirmed the diagnosis of Sweet syndrome. Response to the use of prednisolone alone was not satisfactory. The skin lesions however showed a sustained response to the regular use of intravenous immunoglobulin (IVIG and prednisolone was slowly weaned off. Our case highlights the possible therapeutic role of IVIG in managing this condition.

  16. Sweet Syndrome due to Myelodysplastic Syndrome: Possible Therapeutic Role of Intravenous Immunoglobulin in Addition to Standard Treatment.

    Science.gov (United States)

    Gill, Harry H S; Leung, Anskar Y H; Trendell-Smith, N J; Yeung, C K; Liang, Raymond

    2010-01-01

    We report an 82-year-old lady who developed sudden onset nodular and erythematous lesions and neutrophilia following an episode of urinary tract infection. Skin biopsy confirmed the diagnosis of Sweet syndrome. Response to the use of prednisolone alone was not satisfactory. The skin lesions however showed a sustained response to the regular use of intravenous immunoglobulin (IVIG) and prednisolone was slowly weaned off. Our case highlights the possible therapeutic role of IVIG in managing this condition.

  17. Posterior reversible encephalopathy syndrome (PRES, an acute neurological syndrome due to reversible multifactorial brain edema: a case report

    Directory of Open Access Journals (Sweden)

    Camilla Cicognani

    2013-04-01

    Full Text Available Background: The essential features of Posterior Reversible Encephalopathy Syndrome (PRES are headache, mental changes, seizures, visual symptoms and often arterial hypertension. Brain RMN typically shows cortico-sottocortical parieto-occipital edema, with a bilateral and symmetric distribution. PRES develops in clinical conditions as hypertensive encephalopathy, preeclampsia/ eclampsia, autoimmune diseases, after transplantation, infections and as an adverse effect of immunosuppressive drugs or chemotherapy. It usually completely reverses with treatment, although permanent sequelae are possible in case of delayed or missed diagnosis. Case report: We describe the case of a transsexual (M!F and tetraplegic patient, admitted for neck and low back pain. She suddenly developed headache, confusion, seizures and severe hypertension with normal blood tests. RMN showed multiple cortico-sottocortical areas of vasogenic and citotoxic edema in temporo-occipital, parietal, frontal, and cerebellar regions. Soon after the beginning of the antihypertensive therapy, clinical recovery was observed, as well as the disappearance of edema at RMN. Discussion and conclusions: Although PRES is usually associated with definite pathological conditions, it is not always the case, as was for the patient here described, who had no predisposing factors in her past clinical history, and presented hypertension only in the acute phase of the syndrome. Since, moreover, PRES usually presents with acute non specific features and it can be misdiagnosed with other serious diseases, the clinician will be helped by the knowledge of this syndrome to promptly start diagnostic workup and treatments, and avoid permanent neurological deficits.

  18. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.

    Science.gov (United States)

    Tiranti, V; Hoertnagel, K; Carrozzo, R; Galimberti, C; Munaro, M; Granatiero, M; Zelante, L; Gasparini, P; Marzella, R; Rocchi, M; Bayona-Bafaluy, M P; Enriquez, J A; Uziel, G; Bertini, E; Dionisi-Vici, C; Franco, B; Meitinger, T; Zeviani, M

    1998-12-01

    Leigh disease associated with cytochrome c oxidase deficiency (LD[COX-]) is one of the most common disorders of the mitochondrial respiratory chain, in infancy and childhood. No mutations in any of the genes encoding the COX-protein subunits have been identified in LD(COX-) patients. Using complementation assays based on the fusion of LD(COX-) cell lines with several rodent/human rho0 hybrids, we demonstrated that the COX phenotype was rescued by the presence of a normal human chromosome 9. Linkage analysis restricted the disease locus to the subtelomeric region of chromosome 9q, within the 7-cM interval between markers D9S1847 and D9S1826. Candidate genes within this region include SURF-1, the yeast homologue (SHY-1) of which encodes a mitochondrial protein necessary for the maintenance of COX activity and respiration. Sequence analysis of SURF-1 revealed mutations in numerous DNA samples from LD(COX-) patients, indicating that this gene is responsible for the major complementation group in this important mitochondrial disorder.

  19. Case of inappropriate ADH syndrome: hyponatremia due to polyethylene glycol bowel preparation.

    Science.gov (United States)

    Ko, Sun-Hye; Lim, Chul-Hyun; Kim, Jae-Young; Kang, Seung Hun; Baeg, Myong Ki; Oh, Hyun Jin

    2014-09-14

    Colonoscopic screening has been reported to reduce deaths from colorectal cancer. Adequate bowel preparation is essential for this and safety is an important issue in choosing the methods. Polyethylene glycol (PEG) is regarded as a safe method for cleansing, especially compared with oral sodium phosphate. Here, we present a case of hyponatremia caused by the syndrome of inappropriate antidiuretic hormone (ADH) syndrome after PEG precolonoscopic cleansing resulting in generalized tonic-clonic seizures. A 62-year-old women had ingested PEG for precolonoscopic bowel cleansing. While waiting for the colonoscopy, she developed a stuporous mentality and generalized tonic-clonic seizures, which did not correlate with brain magnetic resonance imaging. Her serum sodium level was 113 mEq per liter and laboratory analyses were consistent with inappropriate ADH syndrome. Her thyroid and adrenal functions were normal. There were no malignancies, infections, respiratory disorders or central nervous disorders and she had no history of taking either diuretics or other medications, which might have caused inappropriate ADH syndrome. She was treated with 3% hypertonic saline and showed a complete neurological recovery as her sodium levels recovered. Follow-up visits showed the patient to have a normal sodium level without neurologic deficits. This case shows that inappropriate ADH syndrome can be caused by PEG preparation, which implies that physicians have to be aware of the possible side effects of this colonic cleansing approach and mindful of the possible ensuing symptoms.

  20. 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

    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...... 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....

  1. Serotonin syndrome due to fluoxetine and tramadol in renal impaired patient

    Directory of Open Access Journals (Sweden)

    Rajnish Raj

    2014-02-01

    Full Text Available Serotonin syndrome causes confusion or altered mental status; other symptoms include myoclonus, shivering, tremors, diaphoresis, hyperreflexia, incoordination, fever and diarrhoea. Tramadol possesses dual pharmacological effects i.e., a weak opiate agonist at mu, kappa and delta opiate receptors along with reuptake inhibition of norepinephrine and serotonin. Risk associated with tramadol increases when co-administered with serotonergic antidepressants or MAOIs (monoamine oxidase inhibitors and in renal impaired. The incidence of this syndrome is less than 1% as most of the cases remain unreported. The case highlights the fact that interaction between serotonergic agents like fluoxetine and tramadol especially in the presence of co-morbid medical illness can lead to serotonin syndrome. [Int J Basic Clin Pharmacol 2014; 3(1.000: 227-229

  2. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome

    Energy Technology Data Exchange (ETDEWEB)

    Ballabio, A.; Andria, G. (Univ. of Reggio Calabria, Catanzaro (Italy)); Bardoni, B.; Fraccaro, M.; Maraschio, P.; Zuffardi, O.; Guioli, S.; Camerino, G. (Univ. of Pavia (Italy)); Carrozzo, R. (Univ. of Naples (Italy)); Bick, D.; Campbell, L. (Univ. of Texas, San Antonio (USA)); Hamel, B. (Univ. of Nijmegen (Netherlands)); Ferguson-Smith, M.A. (Univ. of Cambridge (England)); Gimelli, G. (G. Gaslini Institute, Genoa (Italy))

    1989-12-01

    Mendelian inherited disorders to deletions of adjacent genes on a chromosome have been described as contiguous gene syndromes. Short stature, chondrodysplasia punctata, mental retardation, steroid sulfatase deficiency, and Kallmann syndrome have been found as isolated entities or associated in various combination in 27 patients with interstitial and terminal deletions involving the distal short are of the X chromosome. The use of cDNA and genomic probes from the Xp22-pter region allowed us to identify 12 different deletion intervals and to confirm, and further refine, the chromosomal assignment of X-linked recessive chondrodysplasia punctata and Kallmann syndrome genes. A putative pseudoautosomal gene affecting height and an X-linked nonspecific mental retardation gene have been tentatively assigned to specific intervals. The deletion panel described is a useful tool for mapping new sequences and orienting chromosome walks in the region.

  3. Further case of Rubinstein-Taybi syndrome due to a deletion in EP300.

    LENUS (Irish Health Repository)

    Foley, Patricia

    2012-02-01

    Rubinstein-Taybi syndrome (RSTS) is a heterogeneous disorder with approximately 45-55% of patients showing mutations in the CREB binding protein and a further 3% of patients having mutations in EP300. We report a male child with a deletion of exons 3-8 of the EP300 gene who has RSTS. He has a milder skeletal phenotype, a finding that has been described in other cases with EP300 mutations. The mother suffered from pre-eclampsia and HELLP syndrome in the pregnancy. She subsequently developed a mullerian tumor of her cervix 6 years after the birth of her son.

  4. Fanconi syndrome due to prolonged use of low-dose adefovir

    Directory of Open Access Journals (Sweden)

    Xiao-Bing Wang

    2015-01-01

    Full Text Available Fanconi syndrome results from a generalized abnormality of the proximal tubules of the kidney and owing to phosphate depletion can cause hypophosphatemic osteomalacia. Adefovir dipivoxyl (ADV effectively suppresses hepatitis B virus replication but exhibits nephrotoxicity when administered at a low dosage. We report two cases of Fanconi syndrome induced by ADV at 10 mg/day to call for regular screening for evidence of proximal tubular dysfunction and detailed bone metabolic investigations for prompt detection of ADV nephrotoxicity is critically important to ensure timely drug withdrawal before the development of irreversible tubulointerstitial injury.

  5. Impotence due to external Iliac steal syndrome: Treatment with percutaneous transluminal angioplasty and stent placement

    Energy Technology Data Exchange (ETDEWEB)

    Gur, Serkan [Sifa University, Dept. of Radiology, Izmir (Turkmenistan); Oguzkurt, Levent; Kaya, Bilal; Tekbas, Guven; Ozkan, Ugur [Baskent University, Faculty of Medicine, Dept. of Radiology, Adana (Turkmenistan)

    2013-01-15

    We report a case of erectile dysfunction caused by external iliac artery occlusion, associated with pelvic steal syndrome; bilateral internal iliac arteries were patent. The patient stated that he had experienced erectile dysfunction at similar times along with claudication, but he did not mention it before angiography. He expressed that the erectile dysfunction did not last long and that he felt completely okay after the interventional procedure, in addition to his claudication. Successful treatment of the occlusion, by percutaneous transluminal angioplasty and stent implantation, helped resolve erectile dysfunction completely and treat the steal syndrome.

  6. Severe manifestation of Leber's hereditary optic neuropathy due to 11778G>A mtDNA mutation in a female with hypoestrogenism due to Perrault syndrome.

    Science.gov (United States)

    Badura-Stronka, Magdalena; Wawrocka, Anna; Zawieja, Krzysztof; Silska, Sylwia; Krawczyński, Maciej Robert

    2013-11-01

    Perrault syndrome (PS) is a rare autosomal recessive condition with ovarian dysgenesis, hearing deficit and neurological abnormalities in female patients. The molecular basis of the syndrome is heterogeneous, mutations in the HSD17B4 gene have been identified in one family and mutations in the HARS2 gene have been found in another one. We have excluded pathogenic changes in the HSD17B4 gene and in the HARS2 gene by a direct sequencing of all coding exons in a female with clinical hallmarks of PS, ataxia and mild mental retardation. In addition, the patient suffers from severe Leber's hereditary optic neuropathy (LHON) due to 11778G>A mtDNA mutation. This case is the first reported patient with PS and LHON. Possible influence of hypoestrogenism on the manifestation of optic neuropathy in this patient is discussed in the context of recent findings concerning the crucial role of estrogens in supporting the vision capacity in LHON-related mtDNA mutation carriers.

  7. Successful Colectomy for Hemorrhagic Colitis with Hemolytic Uremic Syndrome and Acute Encephalopathy due to Escherichia coli O157 Infection.

    Science.gov (United States)

    Tominaga, Tetsuro; Oikawa, Masahiro; Takeshita, Hiroaki; Kunizaki, Masaki; Tou, Kazuo; Abo, Takafumi; Hidaka, Shigekazu; Nanashima, Atsushi; Sawai, Terumitsu; Nagayasu, Takeshi

    2014-01-01

    An 81-year-old man was admitted to a primary care hospital due to bloody diarrhea. The findings of abdominal computed tomography indicated ischemic colitis, so conservative therapy was started. On the 4th hospital day, the patient was transferred to our hospital because of renal dysfunction. Physical examination showed clouding of consciousness and abdominal distention. Abdominal computed tomography revealed massive ascites and thickening of the whole colonic wall. With a diagnosis of acute abdomen, an emergent laparotomy was performed. Extended right hemicolectomy was performed because of severe ischemic change and necrosis of the right side of the colon. In the stool culture before the operation, Escherichia coli O157 and verotoxin were found, so this case was diagnosed as hemorrhagic colitis with hemolytic uremic syndrome and acute encephalopathy due to Escherichia coli O157 infection. Postoperatively, the hemolytic uremic syndrome and acute encephalopathy were prolonged. However, with intensive care, the patient recovered and was discharged on the 33rd postoperative day.

  8. [From gene to disease; craniosynostosis syndromes due to FGFR2-mutation

    NARCIS (Netherlands)

    Ravenswaaij-Arts, C.M.A. van; Ouweland, A.M.W. van den; Hoogeboom, A.J.M.; Herbergs, J.; Pals, G.

    2002-01-01

    One of the genes involved in craniosynostosis syndromes is the fibroblast growth factor receptor 2 (FGFR2) gene, a tyrosine kinase receptor gene. Upon ligand binding the FGFR2 receptors dimerise, and this is followed by activation of the intracellular tyrosine kinase domains. This initiates a cascad

  9. Surgical Treatment of Snapping Scapula Syndrome Due to Malunion of Rib Fractures.

    Science.gov (United States)

    Ten Duis, Kaj; IJpma, Frank F A

    2017-02-01

    This report describes a case of snapping scapula syndrome (SSS) caused by malunited rib fractures. Abrasion of the deformed ribs was performed with good results. SSS as a cause of shoulder pain after thoracic trauma has to be considered and can be treated by a surgical abrasion technique. Copyright © 2017 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  10. Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion

    DEFF Research Database (Denmark)

    Morisada, Naoya; Rendtorff, Nanna Dahl; Nozu, Kandai

    2010-01-01

    A 7-year-old Japanese girl with conductive deafness and preauricular fistulae developed proteinuria. She had renal insufficiency, and ultrasound revealed bilateral small kidneys. These findings indicated that she had branchio-oto-renal (BOR) syndrome. In the present patient, we identified, by using...

  11. Physical and Psychological Health in Persons with Deafblindness that Is due to Usher Syndrome Type II

    Science.gov (United States)

    Wahlqvist, Moa; Moller, Claes; Moller, Kerstin; Danermark, Berth

    2013-01-01

    Introduction: The objectives of the study reported here were to describe the physical and psychological health of persons with Usher syndrome Type II (USH2) and to explore any differences in terms of gender. Methods: The participants were recruited from the Swedish Usher database. In the first step, 122 persons received the questionnaire by mail,…

  12. A Case Report About Cluster-Tic Syndrome Due to Venous Compression of the Trigeminal Nerve

    NARCIS (Netherlands)

    de Coo, Ilse; van Dijk, J. Marc C.; Metzemaekers, Jan D M; Haan, Joost

    2016-01-01

    BACKGROUND: The term "cluster-tic syndrome" is used for the rare ipsilateral co-occurrence of attacks of cluster headache and trigeminal neuralgia. Medical treatment should combine treatment for cluster headache and trigeminal neuralgia, but is very often unsatisfactory. CASE: Here, we describe a 41

  13. A Case Report About Cluster-Tic Syndrome Due to Venous Compression of the Trigeminal Nerve

    NARCIS (Netherlands)

    de Coo, Ilse; van Dijk, J. Marc C.; Metzemaekers, Jan D. M.; Haan, Joost

    2017-01-01

    Background.-The term "cluster-tic syndrome" is used for the rare ipsilateral co-occurrence of attacks of cluster headache and trigeminal neuralgia. Medical treatment should combine treatment for cluster headache and trigeminal neuralgia, but is very often unsatisfactory. Case.-Here, we describe a 41

  14. Painful Horner syndrome due to arteritis of the internal carotid artery

    NARCIS (Netherlands)

    Bollen, AE; Krikke, AP; de Jager, AEJ

    1998-01-01

    A 44-year-old man presented with painful Horner syndrome: severe periorbital pain, ptosis, and miosis of his right eye, with intact facial sweating. Lymphadenitis at the right side of his neck preceded the symptoms. MRI and magnetic resonance angiography showed thickening of the right internal carot

  15. A Case of Epilepsia Partialis Continua Due to Linear Nevus Syndrome with Hemimegalencephaly.

    Science.gov (United States)

    Cornelius, Leema Pauline; Raju, Vivekasaravanan; Lalapet, Ravi A

    2017-01-01

    Epilepsia partialis continua (EPC) is a form of focal status epilepticus often refractory to anticonvulsant therapy. A wide range of abnormalities such as inflammatory, vascular, metabolic-toxic, developmental malformations, and neoplasia cause EPC. Linear nevus syndrome with hemimegalencephaly is one of the developmental malformations that can present with EPC.

  16. Spontaneous Thrombosis of a Bicuspid Aortic valve due to Primary Antiphospholipid Syndrome

    Directory of Open Access Journals (Sweden)

    Sarah Farrell

    2010-08-01

    Full Text Available We present the case of a 51-year-old man who was admitted as an emergency with spontaneous thrombosis of the aortic valve and ascending aorta. At operation he was found to have a congenitally bicuspid aortic valve and subsequent investigation revealed primary antiphospholipid syndrome. He underwent successful removal of the thrombus combined with mechanical replacement of the aortic valve.

  17. Myocardial ischaemia with a normal coronary angiogram due to the primary antiphospholipid syndrome

    NARCIS (Netherlands)

    de Vries, PAM; van der Sluis, A; van der Horst, JCC; van Veldhuisen, DJ

    2002-01-01

    In this case report, we describe a 33-year-old woman with a history of two unprovoked thrombo-embolic events presenting with acute myocardial ischaemia. She had a normal coronary angiogram (CAG). The diagnosis primary antiphospholipid syndrome (APS), an acquired hypercoagulability disorder, was esta

  18. Hemolytic uremic syndrome due to Capnocytophaga canimorsus bacteremia after a dog bite

    NARCIS (Netherlands)

    Tobe, TJM; Franssen, CFM; Zijlstra, JG; de Jong, PE; Stegeman, CA

    1999-01-01

    The hemolytic uremic syndrome (HUS) is known to have several causes, including infectious diseases, drugs, pregnancy, and malignant disease. We report a patient who developed acute renal failure attributable to HUS in the course of Capnocytophaga canimorsus bacteremia. Acute tubular necrosis as well

  19. ADULT RESPIRATORY-DISTRESS SYNDROME (ARDS) DUE TO BACTEREMIC PNEUMOCOCCAL PNEUMONIA

    NARCIS (Netherlands)

    MANNES, GPM; BOERSMA, WG; BAUR, CHJM; POSTMUS, PE

    1991-01-01

    We describe a patient, who had no pre-existing disease, with bacteraemic pneumococcal pneumonia and adult respiratory distress syndrome (ARDS), a rare complication. In spite of the use of antibiotics and intensive treatment the mortality rate of this kind of infection remains high. Streptococcus pne

  20. [Chronic compartment syndrome of the flexor muscles in the forearm due to motocross].

    Science.gov (United States)

    Jeschke, J; Baur, E M; Piza-Katzer, H

    2006-04-01

    A case of a mechanic and motorcyclist is reported who developed unilateral chronic exertional compartment syndrome of the flexor muscles in the forearm. After years of discomfort and medical check-ups, a subcutaneous fasciotomy of the superficial compartments of the flexor muscles in the forearm led to a complete relief of symptoms, which allowed the patient unrestricted activity.

  1. A Case Report About Cluster-Tic Syndrome Due to Venous Compression of the Trigeminal Nerve

    NARCIS (Netherlands)

    de Coo, Ilse; van Dijk, J. Marc C.; Metzemaekers, Jan D. M.; Haan, Joost

    Background.-The term "cluster-tic syndrome" is used for the rare ipsilateral co-occurrence of attacks of cluster headache and trigeminal neuralgia. Medical treatment should combine treatment for cluster headache and trigeminal neuralgia, but is very often unsatisfactory. Case.-Here, we describe a

  2. Unusual Presentation of Gianotti-Crosti Syndrome due to Epstein-Barr Virus Infection.

    Science.gov (United States)

    Al Dhaheri, Hind Saif; Al Kaabi, Amani; Kara Hamo, Yasmin; Al Kaabi, Aysha; Al Kaabi, Salwa; Al Tatari, Hossam

    2016-01-01

    Gianotti-Crosti syndrome (GCS) is viral exanthema of childhood. It typically presents with a symmetric erythematous papular and papulovesicular eruption. It has been classically associated with hepatitis B virus, as well as rarely with Epstein-Barr virus (EBV). We report a case of GCS related to EBV infection without the classical systemic symptoms in a five-year-old male patient.

  3. Hemolytic uremic syndrome due to Capnocytophaga canimorsus bacteremia after a dog bite

    NARCIS (Netherlands)

    Tobe, TJM; Franssen, CFM; Zijlstra, JG; de Jong, PE; Stegeman, CA

    The hemolytic uremic syndrome (HUS) is known to have several causes, including infectious diseases, drugs, pregnancy, and malignant disease. We report a patient who developed acute renal failure attributable to HUS in the course of Capnocytophaga canimorsus bacteremia. Acute tubular necrosis as well

  4. Superior vena cava syndrome due to intravascular thrombosis in a patient with rheumatoid arthritis without antiphospholipid antibody syndrome: Is rheumatoid arthritis a separate hypercoagulable state

    Directory of Open Access Journals (Sweden)

    Pramila Dharmshaktu

    2014-03-01

    Full Text Available We report a 60 year male with long history of joint pain later diagnosed as rheumatoid arthritis (RA who presented with dyspnoea and swelling over neck& upper chest. A clinical diagnosis of superior vena cava (SVC syndrome was made. Patient fulfilled criteria for definite rheumatoid arthritis supported with positive serology. Contrast enhanced computerized tomography (CECT scan of chest revealed thrombosis in SVC. Patient was investigated for the cause of SVC thrombosis. Anti nuclear antibody (ANA test was negative. Anti cardiolipin antibody was done to rule out antiphospholipid antibody (APLA syndrome which has a known association with rheumatoid arthritis to cause intravascular thrombosis but was negative. Digital rectal examination (DRE and prostate specific antigen (PSA levels were normal. Further investigations as a part of thrombophilia work up were normal. There are case reports where RA is associated with SVC syndrome but only when it is associated mediastinal lymphadenopathy or SVC thrombosis due to APLA Syndrome. This case suggests RA per se as hypercoagulable state.

  5. Vesicourethral reflux-induced renal failure in a patient with ICF syndrome due to a novel DNMT3B mutation.

    Science.gov (United States)

    Kutluğ, Seyhan; Ogur, Gönül; Yilmaz, Aysegül; Thijssen, Peter E; Abur, Ummet; Yildiran, Alisan

    2016-12-01

    ICF syndrome is a primary immunodeficiency disease characterized by hypo- or agammaglobulinemia, centromeric instability mainly on chromosomes 1, 9, and 16 and facial anomalies. ICF syndrome presents with frequent respiratory tract infections in infancy. A 20-month-old female patient was referred to our clinic due to frequent lower respiratory tract infections. ICF syndrome was considered because of comorbidity of hypogammaglobulinemia, facial anomalies, and neuromotor growth retardation. Metaphase chromosome analysis revealed centromeric instability on chromosomes 1, 9, and 16 and through Sanger a previously unreported homozygous missense mutation (c.1805T>C; [p.V602A]) was identified in the DNMT3B, confirming ICF1. The patient was found to have a breakdown in renal function 1 year later; the urinary system was examined and bilateral vesicoureteral reflux was found, warranting the need for dialysis in time. This report expands the mutation spectrum of ICF1 and is the first to describe bilateral vesicoureteral reflux accompanying ICF syndrome. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  6. Acute respiratory distress syndrome due to Strongyloides stercoralis infection in a patient with cervical cancer.

    Science.gov (United States)

    Kinjo, Takeshi; Nabeya, Daijiro; Nakamura, Hideta; Haranaga, Shusaku; Hirata, Tetsuo; Nakamoto, Tomoko; Atsumi, Eriko; Fuchigami, Tatsuya; Aoki, Yoichi; Fujita, Jiro

    2015-01-01

    A 62-year-old woman complained of diarrhea and vomiting after receiving chemotherapy for cervical cancer in association with high doses of corticosteroids. Two months later, the patient developed acute respiratory distress syndrome, and numerous Strongyloides stercoralis parasites were found in the intrabronchial discharge. Ivermectin was administered daily until nematodes were no longer detected in the sputum, and the patient's condition was successfully rescued. Antibodies for human T-cell lymphotropic virus-1 (HTLV-1) were positive. HTLV-1 infection and the administration of corticosteroids are known risk factors for strongyloides hyperinfection syndrome. Therefore, physicians should consider this disease in the differential diagnosis of patients from endemic areas who present with gastrointestinal symptoms under these risk factors.

  7. Hereditary mixed polyposis syndrome due to a BMPR1A mutation.

    LENUS (Irish Health Repository)

    O'Riordan, J M

    2010-06-01

    The conditions Juvenile Polyposis Syndrome (JPS) and Hereditary Mixed Polyposis Syndrome (HMPS) are associated with an increased risk of colorectal carcinoma. The genetic mechanisms which explain these conditions have until recently been poorly understood. Recent interest has focused on the transforming growth factor (TGF)-beta signalling pathway and, in particular, on mutations in the SMAD4 gene. However, not all cases of JPS and HMPS have mutations in SMAD4 and focus has now shifted to other components of the TGF-beta pathway to clarify the genetic mechanisms involved in these conditions. In this report, we describe the significance of a bone morphogenetic protein receptor type 1A gene mutation in an Irish family.

  8. [Case report: respiratory infection due to Alcaligenes xylosoxidans in a patient with Mounier-Kuhn syndrome].

    Science.gov (United States)

    Arroyo-Cózar, Marta; Ruiz-García, Montserrat; Merlos, Eva M; Vielba, David; Macías, Enrique

    2012-10-01

    Mounier-Kuhn syndrome is a rare entity characterized by abnormal dilatation of the trachea and main bronchi (tracheobronchomegaly). Alcaligenes xylosoxidans is a non fermenting gram-negative pathogen common in extra-and intra-hospital environment, which may be related to immunosuppression states. We describe the case of a 75 years old male, ex-smoker with moderate functional obstruction, chronic respiratory failure and chronic colonization by Pseudomonas aeuriginosa. He had an infectious exacerbation of his disease, reason that previously required several hospital admissions. The patient was treated with antibiotics and his evolution was favourable with negativization in cultures of the pathogen. This is the first description of the isolation of Alcaligenes xylosoxidans as a cause of respiratory infection in a patient with Mounier-Kuhn syndrome.

  9. Cerebral salt wasting syndrome due to tuberculous meningitis; a case report.

    Science.gov (United States)

    Ahmad, Syed; Majid, Zain; Mehdi, Mehwish; Mubarak, Muhammed

    2016-01-01

    A 58-year-old male presented with fever, nausea, and vomiting since 15 days along with irritability and confusion since 5 days. His laboratory reports showed low serum sodium, serum osmolality and uric acid. Computerized tomography (CT) scan of brain revealed age-related changes. While on lumbar puncture (LP) and cerebrospinal fluid (CSF) examination, CSF protein, lactate dehydrogenase (LDH) and total leukocyte count (predominant lymphocytes) were all increased. On his 14th day of admission, his serum sodium was 116 mEq/l and he had a high urine output. Fluid restriction was tried in order to rule out syndrome of inappropriate antidiuretic hormone secretion (SIADH) but the patient did not respond to it. Keeping in view the above findings, a final diagnosis of tuberculous meningitis leading to cerebral salt wasting syndrome was made. The patient was started on 3% hypertonic saline, mineralocorticoids and anti-tuberculous therapy (ATT), to which he responded favorably and was later discharged.

  10. Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.

    Science.gov (United States)

    Gripp, Karen W; Hopkins, Elizabeth; Sol-Church, Katia; Stabley, Deborah L; Axelrad, Marni E; Doyle, Daniel; Dobyns, William B; Hudson, Cindy; Johnson, John; Tenconi, Romano; Graham, Gail E; Sousa, Ana Berta; Heller, Raoul; Piccione, Maria; Corsello, Giovanni; Herman, Gail E; Tartaglia, Marco; Lin, Angela E

    2011-04-01

    Costello syndrome is characterized by severe failure-to-thrive, short stature, cardiac abnormalities (heart defects, tachyarrhythmia, and hypertrophic cardiomyopathy (HCM)), distinctive facial features, a predisposition to papillomata and malignant tumors, postnatal cerebellar overgrowth resulting in Chiari 1 malformation, and cognitive disabilities. De novo germline mutations in the proto-oncogene HRAS cause Costello syndrome. Most mutations affect the glycine residues in position 12 or 13, and more than 80% of patients share p.G12S. To test the hypothesis that subtle genotype-phenotype differences exist, we report the first cohort comparison between 12 Costello syndrome individuals with p.G13C and individuals with p.G12S. The individuals with p.G13C had many typical findings including polyhydramnios, failure-to-thrive, HCM, macrocephaly with posterior fossa crowding, and developmental delay. Subjectively, their facial features were less coarse. Statistically significant differences included the absence of multifocal atrial tachycardia (P-value = 0.033), ulnar deviation of the wrist (P < 0.001) and papillomata (P = 0.003), and fewer neurosurgical procedures (P = 0.024). Fewer individuals with p.G13C had short stature (height below -2 SD) without use of growth hormone (P < 0.001). The noteworthy absence of malignant tumors did not reach statistical significance. Novel ectodermal findings were noted in individuals with p.G13C, including loose anagen hair resulting in easily pluckable hair with a matted appearance, different from the tight curls typical for most Costello syndrome individuals. Unusually long eye lashes requiring trimming are a novel finding we termed dolichocilia. These distinctive ectodermal findings suggest a cell type specific effect of this particular mutation. Additional patients are needed to validate these findings.

  11. Steven's Johnson syndrome with toxic epidermal necrolysis due to thalidomide in a case of multiple myeloma.

    Science.gov (United States)

    Das, Anupam; Sil, Amrita; Mishra, Vivek; Das, Nilay Kanti

    2014-01-01

    Thalidomide developed in 1954 for morning sickness had proven to be a teratogen and hence was withdrawn from market. Resurgence of thalidomide began as an immunomodulator when it was shown to be effective in the management of multiple myeloma and many conditions like erythema nodosum leprosum, graft versus host disease, recurrent aphthous ulcers etc. We report a case of Stevens Johnson syndrome-toxic epidermal necrolysis developing in an elderly male who was prescribed thalidomide after being diagnosed with multiple myeloma.

  12. RENOVASCULAR HYPERTENSION DUE TO RENAL ARTERY STENOSIS IN KLIPPEL-FEIL SYNDROME

    OpenAIRE

    Foyaca-Sibat H. MD.; Ibañez-Valdés LdeF. MD,

    2003-01-01

    ABSTRACT We report one patient with Klippel-Feil (KFS) syndrome, other associated anomalies, uncontrolled arterial hypertension, and renal artery stenosis. Because this patient underwent for surgical revascularization with unsuccessful result, all proposed way of treatments are revised, and we have hypothesized that probably for patients with KFS and unilateral renal artery stenosis, medical treatment with ACE inhibitors can provide more benefits than surgical revascularization or percutan...

  13. Death due to fulminant neuroleptic malignant syndrome induced by low doses of haloperidol: a rare case.

    Science.gov (United States)

    Zou, Donghua; Shao, Yu; Qin, Zhiqiang; Zhang, Jianhua; Liu, Ningguo; Li, Zhengdong; Huang, Ping; Chen, Yijiu

    2014-05-01

    The paper reports on a rare case of fulminant neuroleptic malignant syndrome (NMS) with several risk factors, typical manifestation and rapid death induced by low doses of haloperidol. The pathological findings, pathogenesis, clinical manifestations, diagnostic criteria, risk factors and other features of NMS are discussed. The importance of forensic pathologists being aware of the possibility of NMS as the cause of death in people taking antipsychotic drugs is stressed.

  14. The role of nasal CPAP in obstructive sleep apnoea syndrome due to mandibular hypoplasia.

    LENUS (Irish Health Repository)

    Miller, Stanley D W

    2012-02-01

    Melnick Needles syndrome (MNS), Treacher Collins syndrome (TCS) and Pierre Robin syndrome (PRS) are congenital abnormalities with characteristic facial appearances that include micrognathia. A 20-year-old girl with MNS, a 16-year-old boy with TCS and a 12-year-old girl with PRS attended the sleep apnoea clinic at our institution at different times. Diagnostic sleep studies were initially performed on all three patients to confirm the diagnosis of obstructive sleep apnoea syndrome (OSAS). They subsequently commenced nasal CPAP (nCPAP) treatment and their progress was followed. A limited sleep study on the patient with MNS demonstrated moderate\\/severe OSAS with an AHI of 33 events\\/h. Commencement of nCPAP resulted in symptomatic improvement. Overnight oximetry in the patient with TCS showed repeated desaturation to SpO2<90%. Subsequent treatment by nCPAP almost completely abolished the desaturation events. Overnight polysomnography in the patient with PRS demonstrated severe OSAS with an AHI of 49 events\\/h. After 3 years of nCPAP therapy, this patient requested discontinuation of treatment. Subsequent polysomnography without nCPAP revealed an AHI of <5 events\\/h. The use of nCPAP in the patients with MNS and TCS resulted in effective control of their sleep abnormalities. Mandibular growth and enlargement of the posterior airway space led to resolution of OSAS in the patient with PRS. There is a definite role for nCPAP therapy in patients with congenital micrognathia and OSAS. The use of nCPAP may obviate the need for more invasive corrective surgery for OSAS and is not necessarily a life-long requirement.

  15. Unusual Presentation of Gianotti-Crosti Syndrome due to Epstein-Barr Virus Infection

    Directory of Open Access Journals (Sweden)

    Hind Saif Al Dhaheri

    2016-01-01

    Full Text Available Gianotti-Crosti syndrome (GCS is viral exanthema of childhood. It typically presents with a symmetric erythematous papular and papulovesicular eruption. It has been classically associated with hepatitis B virus, as well as rarely with Epstein-Barr virus (EBV. We report a case of GCS related to EBV infection without the classical systemic symptoms in a five-year-old male patient.

  16. Unusual Presentation of Gianotti-Crosti Syndrome due to Epstein-Barr Virus Infection

    Science.gov (United States)

    Al Dhaheri, Hind Saif; Al Kaabi, Amani; Kara Hamo, Yasmin

    2016-01-01

    Gianotti-Crosti syndrome (GCS) is viral exanthema of childhood. It typically presents with a symmetric erythematous papular and papulovesicular eruption. It has been classically associated with hepatitis B virus, as well as rarely with Epstein-Barr virus (EBV). We report a case of GCS related to EBV infection without the classical systemic symptoms in a five-year-old male patient. PMID:28050291

  17. Carnitine Profile and Effect of Suppletion in Children with Renal Fanconi Syndrome due to Cystinosis

    OpenAIRE

    Besouw, M.; Cornelissen, E.; Cassiman, D.; Kluijtmans, L.; L. van den Heuvel; Levtchenko, E

    2014-01-01

    Background: Cystinosis is an autosomal recessive disorder marked by intralysosomal cystine accumulation. Patients present with generalized proximal tubular dysfunction called renal Fanconi syndrome. Urinary carnitine loss results in plasma and muscle carnitine deficiency, but no clinical signs of carnitine deficiency have been described. Also, the optimal dose of carnitine supplementation is undefined. This study aimed to determine whether currently recommended carnitine doses result in adequ...

  18. Immune reconstitution syndrome in a human immunodeficiency virus infected child due to giardiasis leading to shock

    Directory of Open Access Journals (Sweden)

    Sneha Nandy

    2015-01-01

    Full Text Available Human immunodeficiency virus (HIV-associated immune reconstitution inflammatory syndrome has been reported in association with tuberculosis, herpes zoster (shingles, Cryptococcus neoformans, Kaposi′s sarcoma, Pneumocystis pneumonia, hepatitis B virus, hepatitis C virus, herpes simplex virus, Histoplasma capsulatum, human papillomavirus, and Cytomegalovirus. However, it has never been documented with giardiasis. We present a 7-year-old HIV infected girl who developed diarrhea and shock following the initiation of antiretroviral therapy, and her stool showed the presence of giardiasis.

  19. Fatal respiratory distress syndrome due to coronavirus infection in a child with severe combined immunodeficiency.

    Science.gov (United States)

    Szczawinska-Poplonyk, Aleksandra; Jonczyk-Potoczna, Katarzyna; Breborowicz, Anna; Bartkowska-Sniatkowska, Alicja; Figlerowicz, Magdalena

    2013-09-01

    Coronaviruses have been demonstrated to contribute substantially to respiratory tract infections among the child population. Though infected children commonly present mild upper airway symptoms, in high-risk patients with underlying conditions, particularly in immunocompromised children these pathogens may lead to severe lung infection and extrapulmonary disorders. In this paper, we provide the first report of the case of a 15-month-old child with severe combined immunodeficiency and coronavirus HKU1-related pneumonia with fatal respiratory distress syndrome.

  20. Death of a female cocaine user due to the serotonin syndrome following moclobemide-venlafaxine overdose.

    Science.gov (United States)

    Kłys, Małgorzata; Kowalski, Piotr; Rojek, Sebastian; Gross, Adam

    2009-01-30

    To our knowledge, the majority of evidence supporting the relationship between the serotonin syndrome and medications that effect 5HT is based on case reports. The justification for taking up this subject has been a fatal outcome of a 21 year-old female following an administration of toxic doses of moclobemide (MAOI) and venlafaxine (SNRI). As a result of complex toxicological investigations including antemortem and postmortem material, antemortem clinical observations and postmortem examinations, the cause of death was identified as overdose with antidepressants--moclobemide and venlafaxine--in the mechanism of the clinically fully developed severe toxic serotonin syndrome. The analysis of a hair strand collected from the victim documented the use of the above-mentioned drugs simultaneously with cocaine in the period of at least 20 months preceding death. The fact is a matter of considerable interest in view of the employed pharmacotherapy, giving rise to suspicion that the woman had not developed the serotonin syndrome during the almost 2-year antemortem period until she took toxic doses of both medications.

  1. Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

    Science.gov (United States)

    Paznekas, W A; Cunningham, M L; Howard, T D; Korf, B R; Lipson, M H; Grix, A W; Feingold, M; Goldberg, R; Borochowitz, Z; Aleck, K; Mulliken, J; Yin, M; Jabs, E W

    1998-06-01

    Thirty-two unrelated patients with features of Saethre-Chotzen syndrome, a common autosomal dominant condition of craniosynostosis and limb anomalies, were screened for mutations in TWIST, FGFR2, and FGFR3. Nine novel and three recurrent TWIST mutations were found in 12 families. Seven families were found to have the FGFR3 P250R mutation, and one individual was found to have an FGFR2 VV269-270 deletion. To date, our detection rate for TWIST or FGFR mutations is 68% in our Saethre-Chotzen syndrome patients, including our five patients elsewhere reported with TWIST mutations. More than 35 different TWIST mutations are now known in the literature. The most common phenotypic features, present in more than a third of our patients with TWIST mutations, are coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, ptosis, hypertelorism, broad great toes, and clinodactyly. Significant intra- and interfamilial phenotypic variability is present for either TWIST mutations or FGFR mutations. The overlap in clinical features and the presence, in the same genes, of mutations for more than one craniosynostotic condition-such as Saethre-Chotzen, Crouzon, and Pfeiffer syndromes-support the hypothesis that TWIST and FGFRs are components of the same molecular pathway involved in the modulation of craniofacial and limb development in humans.

  2. Progressive anterior operculum syndrome due to FTLD-TDP: a clinico-pathological investigation.

    Science.gov (United States)

    Otsuki, Mika; Nakagawa, Yoshitsugu; Mori, Fumiaki; Tobioka, Hirotoshi; Yoshida, Hideaki; Tatezawa, Yoshiharu; Tanigawa, Toshio; Takahashi, Ikuko; Yabe, Ichiro; Sasaki, Hidenao; Wakabayashi, Koichi

    2010-07-01

    Pathological investigation of progressive anterior operculum syndrome has rarely been reported. We describe clinico-pathological findings in a patient with progressive anterior operculum syndrome. A 74-year-old right-handed man had noticed speech and swallowing difficulties 1 year previously. Neurological examinations showed no abnormality other than a slight limitation of upward gaze and slow tongue movement without fibrillation. We investigated the patient using neuroimaging and neuropsychological examinations and observed him for 2 years until his death, at which point we obtained pathological findings. The patient's facial and masseteric muscles seemed hypotonic with drooling, but he could laugh and yawn normally, showing automatic voluntary dissociation. Palatal and pharyngeal reflexes were normal. Magnetic resonance imaging showed cortical atrophy in the temporal lobes bilaterally. (123)IMP single photon emission computed tomography and positron emission tomography showed decreased blood flow and activity in the frontotemporal lobes, predominantly on the left side. Neuropsychological examinations showed no aphasia, dementia or other neuropsychological abnormality. Intubation fiberscopy, laryngoscopy and video fluorography showed no abnormality. After 6 months his anarthria and dysphagia became aggravated. He died of aspiration pneumonia 2 years after onset. Postmortem examination revealed neuronal degeneration with TDP-43-positive inclusions in the frontal, temporal and insular cortices, consistent with frontotemporal lobar degeneration with TDP inclusions (FTLD-TDP). However, neuronal loss with gliosis was more prominent in the inferior part of the motor cortices, bilaterally. Progressive anterior operculum syndrome could be classified as a variant of FTLD-TDP.

  3. Common Carotid Artery Stump Syndrome Due to Mobile Thrombus Detected by Carotid Duplex Ultrasonography.

    Science.gov (United States)

    Omoto, Shusaku; Hasegawa, Yuki; Sakai, Kenichiro; Matsuno, Hiromasa; Arai, Ayumi; Terasawa, Yuka; Mitsumura, Hidetaka; Iguchi, Yasuyuki

    2016-10-01

    Carotid stump syndrome is a cause of recurrent embolic stroke following occlusion of the ipsilateral internal carotid artery. The present report describes a case of recurrent cerebral embolism ipsilateral to a chronically occluded left common carotid artery (CCA), i.e., "CCA stump syndrome." Doppler color flow imaging showed anterograde flow in the left internal and external carotid arteries, which were supplied by collateral flow from the superior thyroid artery inflowing just proximal to the left carotid bifurcation. According to carotid duplex ultrasonography (CDU), a low-echoic mobile thrombus was noted at the distal stump of the occluded CCA, which presumably caused distal embolism. The low-echoic mobile thrombus dramatically changed to a homogenously high-echoic thrombus, and there was no recurrence of stroke after antiplatelet and anticoagulant therapy. This is the first report to demonstrate a CDU-verified temporal change in the thrombus at the stump in CCA stump syndrome. CDU is a noninvasive and useful technique to characterize hemodynamics, thrombus morphology, and the response to therapy.

  4. Status spasticus and psoas muscle edema due to anti-GAD antibody associated stiff-man syndrome.

    Science.gov (United States)

    Maramattom, Boby Varkey

    2015-08-01

    Severe muscle rigidity and spasms are uncommon causes of Intensive Care Unit (ICU) admissions. Stiff-man syndrome (SMS) is a rare disorder characterized by continuous muscle spasms, axial muscle rigidity, "tin soldier gait," and continuous motor unit activity on electromyography. There are three clinical variants of SMS; stiff-limb syndrome, classical SMS, and paraneoplastic encephalomyelitis with rigidity and myoclonus. Three types of antibodies have been associated with SMS; however, anti-glutamic acid decarboxylase (GAD) antibodies are the most frequent and are seen in the idiopathic type of SMS. The spasms of SMS can be very disabling and severe enough to cause muscle ruptures and skeletal fractures. We present a case of anti-GAD positive SMS with "status spasticus" causing bilateral psoas myoedema and rhabdomyolysis due to repeated axial muscle jerking in a 64-year-old man and discuss the differential diagnosis of a "jerking patient in the ICU."

  5. Syndrome of Inappropriate Secretion of Antidiuretic Hormone Cholestasis and Pericardial Effusion Due to Brucellosis Infection: A Case Report

    Directory of Open Access Journals (Sweden)

    Ahmet Cumhur Dülger

    2010-01-01

    Full Text Available Syndrome of inappropriate secretion of antidiuretic hormone (SIADH is an extremely rare complication of infectious diseases. A rare case of brucellosis complicated by syndrome of inappropriate secretion of antidiuretic hormone (SIADH cholestasis and pericardial involvement is reported. A 27-year-old woman was admitted for fever, abdominal pain, and scleral icterus. Her medical history revealed no recent use of diuretic agents. In addition to cholestasis and elevated liver enzymes, euvolemic hyponatremia, hypouricemia, low plasma osmolality, and high urinary osmolality were also detected. Surrenal and thyroid tests were also within normal range. Echocardiography revealed minimal pericardial effusion with normal cardiac functions. The final diagnosis was SIADH due to Brucellosis. Hyponatremia, cholestasis, and pericardial disease were resolved with effective antibrucellar treatment with streptomycine and doxycycline. After completing treatment of brucellosis, there was not any more evidence of cholestasis and pericardial fluid.

  6. Color vision abnormality as the sole manifestation of posterior reversible encephalopathy due to post-partum HELLP syndrome.

    Science.gov (United States)

    Takahashi, Hironori; Matsubara, Teppei; Makino, Shinji; Horie, Kenji; Matsubara, Shigeki

    2017-03-01

    Posterior reversible encephalopathy syndrome (PRES) is associated with several symptoms; of those, visual acuity loss, light oversensitivity (photophobia), and light flashes (photopsia) are known as PRES-related eye symptoms. We report a post-partum woman with PRES associated with hemolysis, elevated liver enzymes, and low platelets syndrome (HELLP), in whom color vision abnormality (achromatopsia) was the sole manifestation. Cesarean section was performed at 28 weeks due to headache, epigastralgia, and severe hypertension. HELLP became evident after delivery. On post-partum day 1, she complained of achromatopsia, stating: "all things look brownish-gray". Ophthalmologic examination was normal, but brain magnetic resonance imaging showed occipital lobe lesions, indicative of PRES, and, interestingly, also color vision center (area V4) lesions, suggesting that the achromatopsia had been caused by brain damage. It may be prudent to question HELLP patients concerning achromatopsia. © 2017 Japan Society of Obstetrics and Gynecology.

  7. Cushing syndrome in a child due to pro-opiomelanocortin (POMC) secretion from a yolk sac tumor.

    Science.gov (United States)

    Gevers, Evelien F; Meredith, Suzanne; Shah, Pratik; Torpiano, John; Peters, Catherine; Sebire, Neil J; Slater, Olga; White, Anne; Dattani, Mehul T

    2017-02-01

    Pituitary microadenomas and adrenal tumours are the most common causes for endogenous Cushing syndrome (CS) in children. We describe a two-year old girl with Cushing syndrome due to ectopic pro-opiomelanocortin (POMC) production from an abdominal yolk sac tumor. Cortisol concentrations were elevated but adrenocorticotropic hormone (ACTH) concentrations were equivocal. The use of antibodies specifically detecting ACTH precursors revealed that plasma ACTH precursors were elevated. Additionally, an ACTH assay with a low cross-reactivity for precursors showed low concentrations of ACTH. Immunohistochemistry suggested POMC but not ACTH production by the tumour. We describe a yolk sac tumour as a novel source of ectopic POMC production leading to CS in a young girl. © 2017 European Society of Endocrinology.

  8. [Mononeuritis multiplex due to thrombotic ischemia of primary antiphospholipid antibody syndrome without vasculitis: an autopsy case report].

    Science.gov (United States)

    Takahashi, Masatoshi; Katada, Fumiaki; Sato, Susumu; Shibayama, Hidehiro; Fukutake, Toshio; Murayama, Shigeo

    2015-01-01

    The patient was a 78-year-old man. Three years before admission, he developed transient peripheral neuropathy and purpura, and at admission, he presented with livedo reticularis of both his lower extremities and with mononeuritis multiplex. Vasculitis was not observed, and antiphospholipid antibodies were detected. The nerve and skin biopsies revealed no inflammation; axonal degeneration accompanied by thrombi was found in his arterioles and venules. Based on these findings, he was diagnosed with ischemic peripheral neuropathy due to primary antiphospholipid syndrome. Administration of anticoagulant therapy resulted in an improvement in symptoms; however, two months later, a relapse occurred, and the patient contracted an infection while undergoing immunosuppressive therapy. The infection became fulminant, and the patient succumbed to multiple organ failure. The autopsy revealed a systemic arterial and venous embolism; however, no vasculitis was observed. Antiphospholipid syndrome, which is responsive to antithrombotic treatment, should be considered as a differential diagnosis of mononeuritis multiplex.

  9. Chronic Localized Back Pain Due to Posterior Cutaneous Nerve Entrapment Syndrome (POCNES): A New Diagnosis.

    Science.gov (United States)

    Boelens, Oliver B; Maatman, Robert C; Scheltinga, Marc R; van Laarhoven, Kees; Roumen, Rudi M

    2017-03-01

    Most patients with chronic back pain suffer from degenerative thoracolumbovertebral disease. However, the following case illustrates that a localized peripheral nerve entrapment must be considered in the differential diagnosis of chronic back pain. We report the case of a 26-year-old woman with continuous excruciating pain in the lower back area. Previous treatment for nephroptosis was to no avail. On physical examination the pain was present in a 2 x 2 cm area overlying the twelfth rib some 4 cm lateral to the spinal process. Somatosensory testing using swab and alcohol gauze demonstrated the presence of skin hypo- and dysesthesia over the painful area. Local pressure on this painful spot elicited an extreme pain response that did not irradiate towards the periphery. These findings were highly suggestive of a posterior version of the anterior cutaneous nerve entrapment syndrome (ACNES), a condition leading to a severe localized neuropathic pain in anterior portions of the abdominal wall. She demonstrated a beneficial albeit temporary response after lidocaine infiltration as dictated by an established diagnostic and treatment protocol for ACNES. She subsequently underwent a local neurectomy of the involved superficial branch of the intercostal nerve. This limited operation had a favorable outcome resulting in a pain-free return to normal activities up to this very day (follow-up of 24 months).We propose to name this novel syndrome "posterior cutaneous nerve entrapment syndrome" (POCNES). Each patient with chronic localized back pain should undergo simple somatosensory testing to detect the presence of overlying skin hypo- and dysesthesia possibly reflecting an entrapped posterior cutaneous nerve.Key words: Chronic pain, back pain, posterior cutaneous nerve entrapment, peripheral nerve entrapment, surgical treatment for pain, anterior cutaneous nerve entrapment.

  10. Watery diarrhea, hypokalemia and achlorhydria syndrome due to an adrenal pheochromocytoma

    Institute of Scientific and Technical Information of China (English)

    Shin-ichi Ikuta; Chiaki Yasui; Masahiro Kawanaka; Tsukasa Aihara; Hidenori Yoshie; Hidenori Yanagi; Masao Mitsunobu; Ayako Sugihara; Naoki Yamanaka

    2007-01-01

    Watery diarrhea, hypokalemia and achlorhydria (WDHA)syndrome caused by vasoactive intestinal polypeptide (VIP) -producing tumor only rarely occurs in patients with nonpancreatic disease. A 49-year-old woman was referred for evaluation of a right adrenal tumor incidentally diagnosed by abdominal ultrasound during the investigation of chronic watery diarrhea. Laboratory findings showed hypokalemia and excessive production of VIP and catecholamines. After surgical resection of the tumor, diarrhea subsided and both electrolytes and affected hormone levels normalized. Immunohistochemical examination confirmed a diagnosis of pheochromocytoma,which contained VIP-positive ganglion-like cells. We herein present the clinical and histogenetic implications of this rare clinical entity, with literature review.

  11. Thoracic Outlet Syndrome in a Volleyball Player Due to Nonunion of the First Rib Fracture.

    Science.gov (United States)

    Puttmann, Kathleen T; Satiani, Bhagwan; Vaccaro, Patrick

    2016-11-01

    Fracture of the first rib with ensuing callus formation is a rare cause of thoracic outlet syndrome. We report a case of a 17-year-old female volleyball player who presented with months of chronic arm pain. Radiographic imaging demonstrated nonunion fracture of the first rib. Physical therapy had been unsuccessful in relieving the pain, and surgical management was performed with resection of the first rib through a transaxillary approach with complete resolution of symptoms. Inflammation surrounding such fractures may destroy tissue planes, making dissection more technically difficult.

  12. [Necrotizing fasciitis of the eyelids and toxic shock syndrome due to Streptococcus pyogenes].

    Science.gov (United States)

    Bustos B, Raúl; Soto G, Gonzalo; Hickmann O, Lilian; Torres B, Carlos

    2009-04-01

    Necrotizing fasciitis (NF) is a serious infection that compromises subcutaneous tissue, fascia, and adipose tissue, with high mortality rate and sequelae. Extremities, trunk and pelvis are the most common body sites affected. Periorbital celullitis with necrotizing fasciitis of the eyelid is rare. We report the case of a three years oíd child with bilateral NF of the eyelids and toxic shock syndrome secondary to Streptococcus pyogenes infection occurring after a minor skin trauma. Early recognition leading to intensive care treatment and prompt surgical debridement were critical in the favourable outcome of the child.

  13. Atypical presentation of autoimmune lymphoproliferative syndrome due to CASP10 mutation.

    Science.gov (United States)

    Tripodi, Serena Ilaria; Mazza, Cinzia; Moratto, Daniele; Ramenghi, Ugo; Caorsi, Roberta; Gattorno, Marco; Badolato, Raffaele

    2016-09-01

    Herein we describe the case of a 8-years-old boy with diagnosis of atypical autoimmune lymphoproliferative syndrome (ALPS), carrying heterozygous mutation of CASP10 gene (I406L). He presented with multiple non-invasive infections of the skin, that were associated to chronic non-malignant non-infectious lymphadenopathy, failure to thrive, weakness, arthralgia, relapsing oral aftosis, and expansion of TCRαβ(+) CD4(-)/CD8(-) T cells. This observation suggests that cutaneous infections can be observed in ALPS patients carrying CASP10 mutations.

  14. Burning Mouth Syndrome due to Television Moans, an Enigma for Oral Physician: Treatment with Counseling

    Directory of Open Access Journals (Sweden)

    Deepak Gupta

    2014-06-01

    Full Text Available Burning mouth syndrome (BMS is a relatively common disease that can severely affect the quality of life of the patient. It causes chronic orofacial pain or oral burning sensation even in the absence of any detectable organic cause. The etiology of BMS is complex and multifactorial. It has been associated with menopause, trigger events and even genetic polymorphisms. Although its etiology remains unclear, there is still much evidence that psychological elements like stress, anxiety or depression do play a significant role. There are several studies in the literature which only report the association of BMS with psychological factors. But to the best of our knowledge, there is no such case reported in the literature which has actually highlighted the management of such a case with psychogenic elements involved. In this case report, apart from discussing the role of psychological factors, the treatment of BMS with emphasis on counseling is also emphasized. Further, it is of interest to know that such patients with psychologically induced burning mouth syndrome have to be evaluated to their deepest details. Even their commonly overlooked gestures and habits like watching a particular television soap opera may be involved in their disease process. It can be concluded that psychological counseling in general dental practice can provide an effective cure for chronic oral burning sensation with psychological factors involved.

  15. Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature.

    Science.gov (United States)

    Le Fevre, Anna; Beygo, Jasmin; Silveira, Cheryl; Kamien, Benjamin; Clayton-Smith, Jill; Colley, Alison; Buiting, Karin; Dudding-Byth, Tracy

    2017-03-01

    Angelman syndrome (AS) is characterized by severe intellectual disability, limited, or absent speech and a generally happy demeanor. The four known etiological mechanisms; deletions, uniparental disomy, imprinting defects, and UBE3A mutation all affect expression of the UBE3A gene at 15q11-q13. An atypical phenotype is seen in individuals who are mosaic for a chromosome 15q11-q13 imprinting defect on the maternal allele. These patients present with a milder phenotype, often with hyperphagia and obesity or non-specific intellectual disability. Unlike typical AS syndrome, they can have a vocabulary up to 100 words and speak in sentences. Ataxia and seizures may not be present, and the majority of individuals do not have microcephaly. Here we review the current literature and present three individuals with atypical AS caused by a mosaic imprinting defect to demonstrate why DNA methylation analysis at the SNRPN locus needs to be considered in a broader clinical context. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  16. Superior Mesenteric Artery Syndrome due to a Vertebral Hemangioma and Postpartum Osteoporosis following Treatment

    Directory of Open Access Journals (Sweden)

    Mehmet Elmadag

    2015-01-01

    Full Text Available In pregnancy, advanced vertebral hemangiomas may be seen, and these require treatment. The case reported here is of a 35-year-old female in the 32nd week of pregnancy who was admitted to the orthopaedics clinic with a history of backache and difficulty walking. A burst fracture of L1 associated with a vertebral hemangioma was identified with an L3 compression fracture secondary to osteoporosis. The local kyphosis angle between T12 and L2 was 27°. Kyphotic deformity was corrected and postoperatively, the measured T12–L2 local kyphotic angle was 9°. Twelve hours postoperatively, oral nutrition was allowed, but she developed nausea and vomiting and twenty-four hours postoperatively, an electrolyte imbalance developed. Postoperatively, the patient was diagnosed with superior mesenteric artery syndrome. To the best of our knowledge, this is the first reported case of superior mesenteric artery syndrome, which occurred following the correction of a kyphotic deformity that had developed secondary to an advanced hemangioma in pregnancy.

  17. Myoclonic status and central fever in Angelman syndrome due to paternal uniparental disomy.

    Science.gov (United States)

    Nicita, Francesco; Garone, Giacomo; Papetti, Laura; Consoli, Federica; Magliozzi, Monia; De Luca, Alessandro; Spalice, Alberto

    2015-01-01

    Myoclonic status in nonprogressive encephalopathy (MSNE) is an early-onset, drug-resistant epileptic syndrome characterized by occurrence of continuous diffuse epileptiform abnormalities, associated with positive and/or negative phenomena and accompanied by transient and recurring motor, cognitive, and behavioral impairment. MSNE has been reported in Angelman syndrome (AS) secondary to 15q11-13 deletions or UBE3A mutations but not to paternal uniparental disomy (UPD). We describe the case of a male patient with AS caused by UPD who developed a myoclonic status (MS) associated with long-lasting fever of central origin, both promptly regressed with introduction of levetiracetam. Only three descriptions of thermal dysregulation in AS exist, and none of the previously reported cases were associated with MS or with UPD. Association of MS and central fever expands the spectrum of epileptic and non-epileptic features in UPD-related AS and provides a further evidence of hypothalamus involvement in the pathogenesis of this neurodevelopmental disorder.

  18. Burning Mouth Syndrome due to Television Moans, an Enigma for Oral Physician: Treatment with Counseling.

    Science.gov (United States)

    Gupta, Deepak; Sheikh, Soheyl; Pallagatti, Shambulingappa; Kasariya, Kartikaya; Buttan, Amit; Gupta, Maqul

    2014-01-01

    Burning mouth syndrome (BMS) is a relatively common disease that can severely affect the quality of life of the patient. It causes chronic orofacial pain or oral burning sensation even in the absence of any detectable organic cause. The etiology of BMS is complex and multifactorial. It has been associated with menopause, trigger events and even genetic polymorphisms. Although its etiology remains unclear, there is still much evidence that psychological elements like stress, anxiety or depression do play a significant role. There are several studies in the literature which only report the association of BMS with psychological factors. But to the best of our knowledge, there is no such case reported in the literature which has actually highlighted the management of such a case with psychogenic elements involved. In this case report, apart from discussing the role of psychological factors, the treatment of BMS with emphasis on counseling is also emphasized. Further, it is of interest to know that such patients with psychologically induced burning mouth syndrome have to be evaluated to their deepest details. Even their commonly overlooked gestures and habits like watching a particular television soap opera may be involved in their disease process. It can be concluded that psychological counseling in general dental practice can provide an effective cure for chronic oral burning sensation with psychological factors involved.

  19. Stevens-Johnson syndrome and toxic epidermal necrolysis due to anticonvulsants share certain clinical and laboratory features with drug-induced hypersensitivity syndrome, despite differences in cutaneous presentations.

    Science.gov (United States)

    Teraki, Y; Shibuya, M; Izaki, S

    2010-10-01

    Drug-induced hypersensitivity syndrome (DIHS)/drug rash with eosinophilia and systemic symptoms (DRESS) syndrome is characterized by late disease onset, fever, rash, hepatic dysfunction, haematological abnormalities, lymphadenopathy and often, human herpesvirus (HHV) reactivation. The diagnosis of DIHS is based on the combined presence of these findings. Anticonvulsants are a major cause of DIHS and may also cause Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). We examined whether SJS/TEN due to anticonvulsants display similar clinical and laboratory features seen in DIHS. Patients diagnosed with SJS or TEN due to anticonvulsants (n = 8) were examined and their clinical features and laboratory findings were compared with patients with anticonvulsant-related DIHS (n = 6). Seven of the eight patients with SJS/TEN developed symptoms > 3 weeks after starting anticonvulsants. Hepatic dysfunction was present in six patients with SJS/TEN and five patients with DIHS. Leucocytosis and/or eosinophilia was noted in seven patients with SJS/TEN and four patients with DIHS. Only one patient in the SJS/TEN group had atypical lymphocytosis; this was present in four patients with DIHS. Reactivation of HHV-6 was detected in one of the four patients tested in the SJS/TEN group, although it was seen in five of the six patients with DIHS. TSJS/TEN due to anticonvulsants may exhibit some clinical and laboratory features of DIHS. The nature of the cutaneous involvement should be emphasized in the diagnosis of DIHS. © 2009 The Author(s). Journal compilation © 2009 British Association of Dermatologists.

  20. Electroacupuncture Treatment for Constipation Due to Spasmodic Syndrome of the Pelvic Floor- A Report of 36 Cases

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    @@Thirty-six cases of constipation due to spasmodic syndrome of the pelvic floor were treated by electroacupuncture, with satisfactory therapeutic results reported as follows. Clinical Data There were 36 cases in this series, 12 males and 24 females, ranging in age from 25 to 76 years, averaging 42 years. The course of disease ranged from 6 months to 22 years, with an average of 6 years. All the 36 cases were previously treated by purgative and emollient cathartic for promoting the bowl movement.

  1. Respiratory syndrome very similar to extrinsic allergic alveolitis due to Penicillium verrucosum in workers in a cheese factory.

    Science.gov (United States)

    Guglielminetti, M; Valoti, E; Cassini, P; Taino, G; Caretta, G

    2001-01-01

    A respiratory syndrome very similar to extrinsic allergic alveolitis due to Penicillium verrucosum was recognized in 4 workers employed in a Gorgonzola cheese factory. A mycogen allergy to P. verrucosum, used as starter in the production, was demonstrated by positive sputum culture and detection of specific antibodies in the blood. Intense and prolonged exposure to inhalation of fungal spores could have lead to the development of this allergic response. The fact that 2 of the subjects are siblings seems to indicate host susceptibility or immunological constitution in the pathogenesis of the respiratory allergy.

  2. Recurrent neuroleptic malignant syndrome due to tiapride and haloperidol: the possible role of D-2 dopamine receptors.

    Science.gov (United States)

    Hermesh, H; Huberman, M; Radvan, H; Kott, E

    1984-11-01

    Two typical recurrent episodes of neuroleptic malignant syndrome (NMS) in the same patient are described. The first episode was caused by a sulpiride derivative, tiapride. This is the first case in which a drug of the benzamide group has been reported to have caused such adverse drug reaction. In the second episode, NMS occurred due to haloperidol in the lowest dose ever reported and was accompanied by highly excessive levels of various muscle enzymes. Involvement of hypothalamic and striatal dopamine system, and particularly of D-2 subtype receptors, is suggested by this case.

  3. [Case report: Löffler's syndrome due to Ascaris lumbricoides mimicking acute bacterial community--acquired pneumonia].

    Science.gov (United States)

    Acar, Ali; Oncül, Oral; Cavuşlu, Saban; Okutan, Oğuzhan; Kartaloğlu, Zafer

    2009-01-01

    In this study we present a patient with Loeffler's syndrome caused by Ascaris lumbricoides who presented with the clinical findings of community-acquired pneumonia (CAP). Our patient, who was twenty-five years old, and who had had symptoms such as coughing, expectorating, dyspnea and fever for approximately ten days, was hospitalized. We auscultated polyphonic rhonchuses at the both hemithoraxes. A chest X-ray revealed bilateral lower zone patch consolidation. Acute bacterial community acquired pneumonia (CAP) was diagnosed due to these findings and empirical antibiotic treatment was begun. Repeated sputum Gram stains were negative, and both sputum and blood cultures were sterile. A sputum smear was negative for acid-fast bacilli. The patient's fever and respiratory complaint did not respond to the empirical antibiotics therapy. During the course of advanced investigations, we measured peripheric eosinophilia, and high levels of total Eo and total IgE, and observed Ascaris lumbricoides eggs during stool examination. The patient was given a diagnosis of Loeffler's syndrome. Thereupon the patient was treated successfully with one dose of albendazol 400 mg. In conclusion, we suggest that Loeffler's syndrome must be considered early in the differential diagnosis for CAP when peripheric eosinophilia is seen in patients if they live in an endemic area for parasitic disease.

  4. Angelman syndrome due to a termination codon mutation of the UBE3A gene.

    Science.gov (United States)

    Al-Maawali, Almundher; Machado, Jerry; Fang, Ping; Dupuis, Lucie; Faghfoury, Hannaneh; Mendoza-Londono, Roberto

    2013-03-01

    Angelman syndrome is a neurodevelopmental disorder characterized by global developmental delay, mental retardation, seizures, microcephaly, and severe speech delay. It may be caused by deletion of chromosome region 15q11.2 of the maternally inherited chromosome, mutations in the UBE3A gene, uniparental disomy, or imprinting defects. Most patients with this diagnosis have a severe phenotype, and a few have a mild form of the disease. We report a patient with a novel mutation in the UBE3A gene that consists of a deletion of the termination codon (c.2556-*+6del GTAAAACAAA) and results in an elongated protein E3 ubiquitin-protein ligase. Our patient has a mild phenotype compared with other patients in general and specifically to patients with UBE3A mutations. He has mild developmental delay, moderate speech delay, and no seizures. Recognition of this genotype-phenotype correlation will allow better genetic counseling to other patients with similar stop codon mutations.

  5. Posterior reversible encephalopathy syndrome with PLEDs-plus due to mesalamine

    Directory of Open Access Journals (Sweden)

    Ajith Cherian

    2014-01-01

    Full Text Available A 32-year-old lady developed status epilepticus and acute visual loss while on mesalamine for Crohn′s disease. Her clinical course and magnetic resonance imaging (MRI were suggestive of posterior reversible encephalopathy syndrome (PRES. She had periodic lateralized epileptiform discharges plus (PLEDs-plus on electroencephalogram (EEG, which responded to sodium valproate. Her vision improved from counting fingers at one-meter distance to 6/12. Though different cytotoxic drugs have been implicated as causative agents, this is the first case report of mesalamine-induced PRES. This case highlights the need for aggressive treatment of PLEDs-plus with EEG monitoring using a broad-spectrum antiepileptic drug like valproate, which has contributed to the rapid reversibility of vision in PRES subjects, and the need for a thorough drug history for etiological clues.

  6. Cornelia de Lange syndrome due to mosaic NIPBL mutation: antenatal presentation with sacrococcygeal teratoma.

    Science.gov (United States)

    Banait, Nishant; Fenton, Alan; Splitt, Miranda

    2015-08-14

    A male infant at 36 weeks gestation was born by section. At 20 weeks of gestation, congenital diaphragmatic hernia and sacrococcygeal teratoma had been seen on ultrasound. At birth, the infant had features suggestive of Cornelia de Lange syndrome (CdLS). He remained hypoxic despite aggressive ventilatory manoeuvres and was palliated. At postmortem, the lungs were hypoplastic. In CdLS, mutations in NIPBL are found in around 50% of cases. Mutation analysis, including multiplex ligation dependent probe amplification of the NIPBL gene from the DNA extracted from peripheral blood lymphocytes was negative, but microarray comparative genomic hybridisation on DNA from skin fibroblast showed a 0.13Mb deletion on chromosome 5p13. The deleted region includes exons 42-47 of the NIPBL gene. It is important to perform NIBPL mutation analysis on DNA from more than one tissue when testing for CdLS. 2015 BMJ Publishing Group Ltd.

  7. RENOVASCULAR HYPERTENSION DUE TO RENAL ARTERY STENOSIS IN KLIPPEL-FEIL SYNDROME

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    Foyaca-Sibat H. MD.

    2003-01-01

    Full Text Available ABSTRACT We report one patient with Klippel-Feil (KFS syndrome, other associated anomalies, uncontrolled arterial hypertension, and renal artery stenosis. Because this patient underwent for surgical revascularization with unsuccessful result, all proposed way of treatments are revised, and we have hypothesized that probably for patients with KFS and unilateral renal artery stenosis, medical treatment with ACE inhibitors can provide more benefits than surgical revascularization or percutaneous transluminal angioplasty. We considered that those patients should be manage by a team of medical doctors being aware of their common associated anomalies, identifying all of them when it is possible then, making an integral evaluation of the each individual situation for establishing their medical priorities in order, and then address its treatments accordingly. If at this stage any surgical treatment is required, is important to bring those problems to the anesthesiologist’s attention for a very careful manipulation of the neck and head during induction of anesthesia. The final results will be strongly related with the capacity of management of the underlying cardio-respiratory, renal, skeletal, urogenital, and nervous system problems. . We also propose the term of Klippel-Feil syndrome "Plus" for those patients with cervical vertebral fusion and many other associated deformities rather than to add new eponyms to the long list that already exist. _____________ RESUMEN: HIPERTENSION RENOVASCULAR DEBIDO A ESTENOSIS DE LA ARTERIA RENAL EN EL SÍNDROME DE KLIPPEL-FEIL Reportamos un paciente afectado por un syndrome de Klippel-Feil, otras anormalias congenitas, hipertension arterial incontrolada y una estenosis unilateral de la arteria renal. Este paciente fue sometido a un tratamiento quirÚrgico de la estenosis de la arteria renal, cuyos resultados fueron no satisfactorios por lo que revisamos todas las alternativas de tratamiento para la estenosis

  8. Subarachnoid hemorrhage due to ruptured intracranial aneurysm following posterior reversible encephalopathy syndrome

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    Takamasa Nanba

    2016-01-01

    Full Text Available Although posterior reversible encephalopathy syndrome (PRES is rarely associated with subarachnoid hemorrhage, to our knowledge, rupture of a concomitant cerebral aneurysm following PRES has not been reported. We describe a patient with atypical PRES involving the brainstem, thalamus, and periventricular white matter without cortical or subcortical edema of the parietooccipital lobe on magnetic resonance imaging, with rupture of a concomitant cerebral aneurysm. Preexisting extremely high blood pressure may trigger atypical PRES, and failure to lower blood pressure may lead to a concomitant aneurysm rupture. In the future treatment of hypertensive urgency with a recurrence of symptoms and mean arterial blood pressure >150 mmHg, it is advisable to immediately hospitalize the patient for aggressive blood pressure management, especially if PRES is suspected based on clinical and radiological features.

  9. Preventing Cushing: Iatrogenic Cushing Syndrome due to Ritonavir-Fluticasone Interaction.

    Science.gov (United States)

    Tiruneh, Fasil; Awan, Ahmad; Didana, Abiot; Doshi, Saumil

    2017-07-17

    Ritonavir is commonly used in low doses to boost plasma levels of protease inhibitors in patients with human immunodeficiency virus (HIV) infections. It is also a potent inhibitor of cytochrome P450. We present a 50-year-old African American male with past medical history of HIV on highly active antiretroviral therapy (HAART), which also included ritonavir and long standing asthma that has been treated with inhaled fluticasone, who presented with back pain. He had central obesity, prominent abdominal striae and wasted extremities on physical examination. Laboratory tests showed low morning serum cortisol and suboptimal cosyntropin test consistent with adrenal insufficiency. Computed tomography (CT) of the spine showed a fracture of inferior endplate of the lumbar (L3) vertebra. The cause of osteoporosis is believed to be iatrogenic Cushing syndrome caused by enhanced levels of inhaled fluticasone effects secondary to inhibition of cytochrome P450. The patient was managed surgically and fluticasone was discontinued.

  10. Cerebral fat embolism syndrome after long bone fracture due to gunshot injury

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    Latif Duran

    2014-01-01

    Full Text Available Cerebral fat embolism syndrome is a lethal complication of long-bone fractures and clinically manifasted with respiratory distress, altered mental status, and petechial rash. We presented a 20-year-old male admitted with gun-shot wounds to his left leg. Twenty-four hours after the event, he had generalized tonic clonic seizures, decorticate posture and a Glascow Coma Scale of seven with localization of painful stimuli. Subsequent magnetic resonance imaging of the brain showed a star-field pattern defining multiple lesions of restricted diffusion. On a 4-week follow-up, he had returned to normal neurological function. Despite the severity of the neurological condition upon initial presentation, the case cerebral fat embolism illustrates that, cerebral dysfunction associated with cerebral fat embolism illustrates reversible.

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

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

    2014-03-01

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

  12. A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance.

    Science.gov (United States)

    Webster, Richard; Maxwell, Susan; Spearman, Hayley; Tai, Kaihsu; Beckstein, Oliver; Sansom, Mark; Beeson, David

    2012-04-01

    Muscle acetylcholine receptor ion channels mediate neurotransmission by depolarizing the postsynaptic membrane at the neuromuscular junction. Inherited disorders of neuromuscular transmission, termed congenital myasthenic syndromes, are commonly caused by mutations in genes encoding the five subunits of the acetylcholine receptor that severely reduce endplate acetylcholine receptor numbers and/or cause kinetic abnormalities of acetylcholine receptor function. We tracked the cause of the myasthenic disorder in a female with onset of first symptoms at birth, who displayed mildly progressive bulbar, respiratory and generalized limb weakness with ptosis and ophthalmoplegia. Direct DNA sequencing revealed heteroallelic mutations in exon 8 of the acetylcholine receptor ε-subunit gene. Two alleles were identified: one with the missense substitution p.εP282R, and the second with a deletion, c.798_800delCTT, which result in the loss of a single amino acid, residue F266, within the M2 transmembrane domain. When these acetylcholine receptor mutations were expressed in HEK 293 cells, the p.εP282R mutation caused severely reduced expression on the cell surface, whereas p.εΔF266 gave robust surface expression. Single-channel analysis for p.εΔF266 acetylcholine receptor channels showed the longest burst duration population was not different from wild-type acetylcholine receptor (4.39 ± 0.6 ms versus 4.68 ± 0.7 ms, n = 5 each) but that the amplitude of channel openings was reduced. Channel amplitudes at different holding potentials showed that single-channel conductance was significantly reduced in p.εΔF266 acetylcholine receptor channels (42.7 ± 1.4 pS, n = 8, compared with 70.9 ± 1.6 pS for wild-type, n = 6). Although a phenylalanine residue at this position within M2 is conserved throughout ligand-gated excitatory cys-loop channel subunits, deletion of equivalent residues in the other subunits of muscle acetylcholine receptor did not

  13. Successful Colectomy for Hemorrhagic Colitis with Hemolytic Uremic Syndrome and Acute Encephalopathy due to Escherichia coli O157 Infection

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    Tetsuro Tominaga

    2014-03-01

    Full Text Available An 81-year-old man was admitted to a primary care hospital due to bloody diarrhea. The findings of abdominal computed tomography indicated ischemic colitis, so conservative therapy was started. On the 4th hospital day, the patient was transferred to our hospital because of renal dysfunction. Physical examination showed clouding of consciousness and abdominal distention. Abdominal computed tomography revealed massive ascites and thickening of the whole colonic wall. With a diagnosis of acute abdomen, an emergent laparotomy was performed. Extended right hemicolectomy was performed because of severe ischemic change and necrosis of the right side of the colon. In the stool culture before the operation, Escherichia coli O157 and verotoxin were found, so this case was diagnosed as hemorrhagic colitis with hemolytic uremic syndrome and acute encephalopathy due to Escherichia coli O157 infection. Postoperatively, the hemolytic uremic syndrome and acute encephalopathy were prolonged. However, with intensive care, the patient recovered and was discharged on the 33rd postoperative day.

  14. Is Disturbed Transfer of Learning in Callosal Agenesis due to a Disconnection Syndrome?

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    T. Imamura

    1994-01-01

    Full Text Available Disturbed intermanual transfer of tactile learning in callosal agenesis has been interpreted as a sign of disconnection syndrome. We observed this sign in one of four acallosal patients with a conventional form-board task, and tried to elucidate the nature of the deficit. The form-board performance of the patient with disturbed transfer of learning totally depended on motor skill, while the other acallosals and normal controls executed the task based on spatial and somesthetic information. All acallosals and normals, however, failed to show transfer of learning with another tactile task which needed motor skill but not spatial-somesthetic information. These findings suggest that the task-performing strategies in form-board learning change the state of interhemispheric transfer. Unimanual learning effect is transferred if spatial-somesthetic information is acquired in the process of learning, but is not transferred if motor skill is the exclusive content of learning. We conclude that disturbed “transfer” of learning in some acallosals is not a true disconnection sign. It should be attributed to a lack of appropriate strategy, as a result of ineffective problem solving in tactile tasks.

  15. Respiratory disease due to current egg drop syndrome virus in Pekin ducks.

    Science.gov (United States)

    Cha, Se-Yeoun; Kang, Min; Moon, Oun-Kyoung; Park, Choi-Kyu; Jang, Hyung-Kwan

    2013-08-30

    Severe acute respiratory symptoms with coughing, dyspnea, and gasping were reported in two flocks of 9-day-old Pekin ducklings from different provinces. Gross lesions, white exudate and mucous membrane congestion in the trachea as well as blue to purple color changes and sclerosis in lungs were observed. Histological lesions revealed that the trachea and bronchial epithelium were hyperplastic and infiltrated by neutrophil granulocytes. Egg drop syndrome virus (EDSV) was differentially diagnosed using polymerase chain reaction, and the strains were isolated from tracheas and lungs by inoculation of 10-day-old embryonated duck eggs. The virus isolates were designated strain D11-JW-012 and D11-JW-017. The clinical and pathological signs were reproduced by intra-tracheal inoculation of the isolates in 3-day-old ducklings. Although the two isolates produced similar clinical signs, pathological lesions and ciliostasis, the D11-JW-017 strain resulted in more severe clinical signs with progressive symptoms compared to those of D11-JW-012 strain-infected ducklings. We suggest that different EDSV strains with mild or severe to moderate pathogenicity coexist and have potential risks in poultry. Hereby, we report an EDSV infection in ducklings. Copyright © 2013 Elsevier B.V. All rights reserved.

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

    Science.gov (United States)

    Sarma, Nilendu

    2009-01-01

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

  17. Fetal phenotype of Prader-Willi syndrome due to maternal disomy for chromosome 15.

    Science.gov (United States)

    L'Herminé, A Coulomb; Aboura, A; Brisset, S; Cuisset, L; Castaigne, V; Labrune, P; Frydman, R; Tachdjian, G

    2003-11-01

    Prader-Willi syndrome (PWS) results from either paternal deletion of 15q11-q13, or maternal uniparental disomy (UPD) of chromosome 15 or imprinting center mutation. Prenatal diagnosis of PWS is currently indicated for chromosomal parental translocation involving chromosome 15 and for decreased fetal movements during the third trimester of gestation. Here we present the prenatal diagnosis of PWS during the first trimester of gestation and autopsy findings. Chorionic villus sampling (CVS) was performed for advanced maternal age at 13 weeks' gestation. CVS showed mosaicism including cells with a normal karyotype and cells with trisomy 15. Amniocentesis showed cells with a normal karyotype. Molecular analysis demonstrated that the fetus had a typical PWS abnormal methylation profile and maternal disomy for chromosome 15. Fetal ultrasound examination showed slightly enlarged lateral ventricles and hypoplasic male external genitalia without intra-uterine growth retardation. The autopsy showed a eutrophic male fetus with facial dysmorphy, hypoplasic genitalia, abnormal position of both feet and posterior hypoplasia of the corpus callosum. This report points out that in a karyotypically normal fetus with ambiguous male external genitalia and cerebral anomalies, extensive cytogenetic and molecular biology studies are strongly recommended because of risk of PWS. Copyright 2003 John Wiley & Sons, Ltd.

  18. Acute renal failure due to abdominal compartment syndrome: report on four cases and literature review

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    Cleva Roberto de

    2001-01-01

    Full Text Available We report on 4 cases of abdominal compartment syndrome complicated by acute renal failure that were promptly reversed by different abdominal decompression methods. Case 1: A 57-year-old obese woman in the post-operative period after giant incisional hernia correction with an intra-abdominal pressure of 24 mm Hg. She was sedated and curarized, and the intra-abdominal pressure fell to 15 mm Hg. Case 2: A 73-year-old woman with acute inflammatory abdomen was undergoing exploratory laparotomy when a hypertensive pneumoperitoneum was noticed. During the surgery, enhancement of urinary output was observed. Case 3: An 18-year-old man who underwent hepatectomy and developed coagulopathy and hepatic bleeding that required abdominal packing, developed oliguria with a transvesical intra-abdominal pressure of 22 mm Hg. During reoperation, the compresses were removed with a prompt improvement in urinary flow. Case 4: A 46-year-old man with hepatic cirrhosis was admitted after incisional hernia repair with intra-abdominal pressure of 16 mm Hg. After paracentesis, the intra-abdominal pressure fell to 11 mm Hg.

  19. Successful treatment of nephrotic syndrome due to FMF amyloidosis with azathioprine: report of three Turkish cases.

    Science.gov (United States)

    Sayarlioglu, Hayriye; Erkoc, Reha; Sayarlioglu, Mehmet; Dogan, Ekrem; Soyoral, Yasemin

    2006-12-01

    Secondary amyloidosis is a well-known complication of certain familial Mediterranean fever (FMF). We presented three Turkish patients with FMF and biopsy proven amyloidosis. These patients were treated with colchicine 1.5 mg/day. They have experienced five to six peritonitis attacks with fever within 1 year. On admission, the laboratory test results were as follows: serum creatinine 2.3, 0.6, and 0.5 mg/dl; albumin 4.2, 1.9, and 1.8 g/dl; and urinary protein excretion 4, 15, and 10 g/day, respectively. All the patients were started azathioprine (AZA) 100 mg/day and attacks were completely stopped. Laboratory findings were as follows after 1 year of AZA treatment: serum creatinine 1, 0.8, and 0.6 mg/dl; albumin 4.3, 3, and 3.5 g/dl; and urinary protein excretion 3, 8, and 1.5 g/day, respectively. Treatment with azathioprine in addition to colchicine could ameliorate the nephrotic syndrome and control the attacks very effectively in these cases.

  20. First Reported Case of Reactive Airway Dysfunction Syndrome in a Laborer Due to Porcelain Tile Dust

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    Tasleem Arif

    2013-06-01

    Full Text Available Reactive airway dysfunction syndrome (RADS is a type of non-immunologically mediated asthma-like disease. It usually occurs after a massive exposure to an irritating substance in the atmosphere in the form of smoke, fumes, gases, and vapor. Unlike bronchial asthma, there is no latency to the symptoms seen in RADS. A number of agents are known to cause RADS, but tile dust, as an etiological agent, has not been previously reported. We report a 45-year-old male laborer, who presented with an acute onset of cough, chest tightness, breathlessness, and audible wheeze after his first time exposure to porcelain tile dust within 5 hours of exposure. Lab tests, including, chest X-ray, electrocardiogram, air blood gas analysis, and serum IgE, were unremarkable. Spirometry showed a mild obstruction [forced expiratory volume in 1 second (FEV1=72% of predicted], while the bronchodilator reversibility test was significant(14% increase in FEV1 above the baseline.Bronchial biopsy revealed a chronic inflammatory reaction with lymphocytic and plasma cell infiltration and more importantly a striking absence of eosinophils. To the best of our knowledge, this is the first reported case of RADS as a result of exposure to tile dust (porcelain ceramics.

  1. Occult Breast Cancer due to Multiple Calcified Hamartomas in a Patient with Cowden Syndrome

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    E. B. Gómez García

    2012-01-01

    Full Text Available Cowden syndrome (CS is an autosomal dominant disorder characterized by presence of multiple hamartomas, and other benign and malignant abnormalities of the breasts, skin, thyroid, endometrium, gastrointestinal tract, and central nervous system. Hamartomas are benign, developmentally disorganized tumors that can develop in any of the above mentioned organs. The presence of massive calcifications in the breasts in very young women is an indication to perform a breast MRI to exclude a neoplasm since, like in the current case report, presence of breast calcifications may obscure a neoplasm. Although fibrocystic disease and cooccurrence of fibrocystic disease and breast cancer are much more common than CS, the presence of massive calcifications in the breasts of very young women should elicit the possibility of an underlying genetic disease. Furthermore, breast cancer and macrocephaly are considered major criteria for the diagnosis of CS and the combination of both is enough to establish the clinical diagnosis of this entity. Fibrocystic disease of the breasts and multinodular goiter are minor criteria. Family history is also important for the diagnosis of (any hereditary disease.

  2. Acute respiratory distress syndrome due to vivax malaria: case report and literature review

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    André V. Lomar

    2005-10-01

    Full Text Available Severe pulmonary involvement in malaria has been frequently reported in cases of Plasmodium falciparum infection, but rarely in vivax malaria. Among the 11 previous cases of vivax-related severe respiratory involvement described in the literature, all except one developed it after the beginning of anti-malarial treatment; these appear to correspond to an exacerbation of the inflammatory response. We report the case of a 43-year-old Brazilian woman living in a malaria-endemic area, who presented acute respiratory distress syndrome (ARDS caused by P. vivax before starting anti-malarial treatment. The diagnosis was made based on microscopic methods. A negative rapid immunochromatographic assay, based on the detection of Histidine Rich Protein-2 (HRP-2 of P. falciparum, indicated that falciparum malaria was unlikely. After specific anti-plasmodial therapy and intensive supportive care, the patient was discharged from the hospital. We conclude that vivax malaria-associated ARDS can develop before anti-malarial therapy.

  3. Abdominal intra-compartment syndrome - a non-hydraulic model of abdominal compartment syndrome due to post-hepatectomy hemorrhage in a man with a localized frozen abdomen due to extensive adhesions: a case report.

    Science.gov (United States)

    Bressan, Alexsander K; Kirkpatrick, Andrew W; Ball, Chad G

    2016-09-15

    Postoperative hemorrhage is a significant cause of morbidity and mortality following liver resection. It typically presents early within the postoperative period, and conservative management is possible in the majority of cases. We present a case of late post-hepatectomy hemorrhage associated with overt abdominal compartment syndrome resulting from a localized functional compartment within the abdomen. A 68-year-old white man was readmitted with sudden onset of upper abdominal pain, vomiting, and hemodynamic instability 8 days after an uneventful hepatic resection for metachronous colon cancer metastasis. A frozen abdomen with adhesions due to complicated previous abdominal surgeries was encountered at the first intervention, but the surgery itself and initial recovery were otherwise unremarkable. Prompt response to fluid resuscitation at admission was followed by a computed tomography of his abdomen that revealed active arterial hemorrhage in the liver resection site and hemoperitoneum (estimated volume abdomen, which we evacuated. Dramatic improvement in his ventilatory pressure was immediate. His abdomen was left open and a negative pressure device was placed for temporary abdominal closure. The fascia was formally closed after 48 hours. He was discharged home at postoperative day 6. Intra-abdominal pressure and radiologic findings of intra-abdominal hemorrhage should be carefully interpreted in patients with extensive intra-abdominal adhesions. A high index of suspicion and detailed understanding of abdominal compartment mechanics are paramount for the timely diagnosis of abdominal compartment syndrome in these patients. Clinicians should be aware that abnormal anatomy (such as adhesions) coupled with localized pathophysiology (such as hemorrhage) can create a so-named abdominal intra-compartment syndrome requiring extra vigilance to diagnose.

  4. Nephrotic syndrome due to minimal change disease secondary to spider bite: clinico-pathological case of a non-described complication of latrodectism.

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    Méndez, Gonzalo P; Enos, Daniel; Moreira, José Luis; Alvaredo, Fátima; Oddó, David

    2017-04-01

    The patient was an 18-year-old man who developed nephrotic syndrome after a 'wheat spider' bite (Latrodectus mactans). Due to this atypical manifestation of latrodectism, a renal biopsy was performed showing minimal change disease. The nephrotic syndrome subsided after 1 week without specific treatment. This self-limited evolution suggests that the mechanism of podocyte damage was temporary and potentially mediated by a secondary mechanism of hypersensitivity or direct effect of the α-latrotoxin. The patient did not show signs of relapse in subsequent checkup. This is the first reported case of nephrotic syndrome due to a minimal change lesion secondary to latrodectism.

  5. Nephrotic syndrome due to minimal change disease secondary to spider bite: clinico-pathological case of a non-described complication of latrodectism

    Science.gov (United States)

    Enos, Daniel; Moreira, José Luis; Alvaredo, Fátima; Oddó, David

    2017-01-01

    Abstract The patient was an 18-year-old man who developed nephrotic syndrome after a ‘wheat spider’ bite (Latrodectus mactans). Due to this atypical manifestation of latrodectism, a renal biopsy was performed showing minimal change disease. The nephrotic syndrome subsided after 1 week without specific treatment. This self-limited evolution suggests that the mechanism of podocyte damage was temporary and potentially mediated by a secondary mechanism of hypersensitivity or direct effect of the α-latrotoxin. The patient did not show signs of relapse in subsequent checkup. This is the first reported case of nephrotic syndrome due to a minimal change lesion secondary to latrodectism. PMID:28396739

  6. Guyons canal syndrome due to accessory palmaris longus muscle: aetiological classification: a case report

    OpenAIRE

    Lal, Ramavath Ashok; Raj, Sakamuri

    2009-01-01

    Introduction Accessory muscles and anatomic variations are well described at the Guyon's canal. Though this case report is similar to variants published in previous reports, it differs from the rest due to rapidity of worsening of symptoms in few months following use of cane. Case presentation We report a case of 69 year old man with ulnar nerve compression at Guyon's canal by accessory palmaris longus arose from distal third palmaris longus and from deep fascia of forearm. The hypertrophied ...

  7. Care in post-traumatic syndrome due to gender violence: a case report.

    Science.gov (United States)

    Sánchez-Herrero, Héctor; Duarte-Clíments, Gonzalo; González-Pérez, Teodoro; Sánchez-Gómez, María Begoña; Gomariz-Bolarín, David

    This article describes a clinical case of a patient attended at a continuous care point for a generalized anxiety disorder, principally due to abuse suffered from her ex partner. The patient was followed up at family nursing clinic, and the appropriate nursing interventions were developed to cover a series of needs prioritized by nurses using the AREA method and taking into account the prioritization of the user herself. Copyright © 2017 Elsevier España, S.L.U. All rights reserved.

  8. Streptococcus pneumoniae bacteraemia due to parotitis in a patient with systemic sclerosis and secondary Sjögren's syndrome.

    Science.gov (United States)

    Yii, Irene Yuen Lin; Tan, Jamie Bee Xian; Fong, Warren Weng Seng

    2016-10-01

    Invasive pneumococcal disease is an uncommon and notifiable disease in Singapore. It is often associated with significant morbidity and mortality. We report a rare case of invasive pneumococcal bacteraemia due to parotitis in a patient with systemic sclerosis and secondary Sjögren's syndrome. We also present a retrospective review of Streptococcus pneumoniae bacteraemia cases in Singapore General Hospital from January 2011 to April 2016. A 59-year-old Malay lady with a history of systemic sclerosis with secondary Sjögren's syndrome presented with fever and left parotid gland swelling. Clinical examination revealed poor salivary pooling and left parotid swelling without fluctuance. Ultrasound of the left parotid gland confirmed acute parotitis without evidence of abscess or sialolithiasis. Blood cultures were positive for S. pneumoniae. She was diagnosed to have invasive pneumococcal bacteraemia secondary to acute parotitis, and treated with intravenous benzylpenicillin with clearance of bacteraemia after 3 days. Upon discharge, her antibiotics were changed to intravenous ceftriaxone to facilitate outpatient parenteral antibiotic therapy for another 2 weeks. She responded favourably to antibiotics at follow-up, with no complications from the bacteraemia. A review of the microbiological records of the Singapore General Hospital revealed 116 cases of pneumococcal bacteraemia, most (80.3 %) of which were due to pneumonia. None were due to parotitis. S. pneumoniae parotitis and subsequent bacteraemia is rare. Prompt recognition of the disease and appropriate use of antibiotics are important. This case highlights that close communication between healthcare workers (microbiologist, rheumatologist and infectious disease specialist) is essential in ensuring good clinical outcomes in patients with a potentially fatal disease.

  9. Conus medullaris syndrome due to an intradural disc herniation: A case report

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    Chaudhary Kshitij

    2008-01-01

    Full Text Available A 70-year-old male patient developed acute paraplegia due to conus medullaris compression secondary to extrusion of D12-L1 disc. After negative epidural examination intraoperatively, a durotomy was performed and an intradural disc fragment was excised. Patient did not regain ambulatory status at two-year follow-up. Intraoperative finding of negative extradural compression, tense swollen dura and CSF leak from ventral dura should alert the surgeon for the possibility of intradural disc herniation. A routine preoperative MRI is misleading and a high index of suspicion helps to avoid a missed diagnosis.

  10. Evidence Report: Risk of Acute Radiation Syndromes Due to Solar Particle Events

    Science.gov (United States)

    Carnell, Lisa; Blattnig, Steve; Hu, Shaowen; Huff, Janice; Kim, Myung-Hee; Norman, Ryan; Patel, Zarana; Simonsen, Lisa; Wu, Honglu

    2016-01-01

    Crew health and performance may be impacted by a major solar particle event (SPE), multiple SPEs, or the cumulative effect of galactic cosmic rays (GCR) and SPEs. Beyond low-Earth orbit, the protection of the Earth's magnetosphere is no longer available, such that increased shielding and protective mechanisms are necessary in order to prevent acute radiation sickness and impacts to mission success or crew survival. While operational monitoring and shielding are expected to minimize radiation exposures, there are EVA scenarios outside of low-Earth orbit where the risk of prodromal effects, including nausea, vomiting, anorexia, and fatigue, as well as skin injury and depletion of the blood-forming organs (BFO), may occur. There is a reasonable concern that a compromised immune system due to high skin doses from a SPE or due to synergistic space flight factors (e.g., microgravity) may lead to increased risk to the BFO. The primary data available at present are derived from analyses of medical patients and persons accidentally exposed to acute, high doses of low-linear energy transfer (LET) (or terrestrial) radiation. Data more specific to the space flight environment must be compiled to quantify the magnitude of increase of this risk and to develop appropriate protection strategies. In particular, information addressing the distinct differences between solar proton exposures and terrestrial exposure scenarios, including radiation quality, dose-rate effects, and non-uniform dose distributions, is required for accurate risk estimation.

  11. The Role of Inspiratory Muscle Training in Sickle Cell Anemia Related Pulmonary Damage due to Recurrent Acute Chest Syndrome Attacks

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    Burcu Camcıoğlu

    2015-01-01

    Full Text Available Background. The sickling of red blood cells causes a constellation of musculoskeletal, cardiovascular, and pulmonary manifestations. A 32-year-old gentleman with sickle cell anemia (SCA had been suffering from recurrent acute chest syndrome (ACS. Aim. To examine the effects of inspiratory muscle training (IMT on pulmonary functions, respiratory and peripheral muscle strength, functional exercise capacity, and quality of life in this patient with SCA. Methods. Functional exercise capacity was evaluated using six-minute walk test, respiratory muscle strength using mouth pressure device, hand grip strength using hand-held dynamometer, pain using Visual Analogue Scale, fatigue using Fatigue Severity Scale, dyspnea using Modified Medical Research Council Scale, and health related quality of life using European Organization for Research and Treatment of Cancer QOL measurement. Results. A significant improvement has been demonstrated in respiratory muscle strength, functional exercise capacity, pain, fatigue, dyspnea, and quality of life. There was no admission to emergency department due to acute chest syndrome in the following 12 months after commencing regular erythrocytapheresis. Conclusion. This is the first report demonstrating the beneficial effects of inspiratory muscle training on functional exercise capacity, respiratory muscle strength, pain, fatigue, dyspnea, and quality of life in a patient with recurrent ACS.

  12. Cardiac tamponade due to low-volume effusive constrictive pericarditis in a patient with uncontrolled type II autoimmune polyglandular syndrome.

    Science.gov (United States)

    Palmer, William C; Kurklinsky, Andrew; Lane, Gary; Ussavarungsi, Kamonpun; Blackshear, Joseph L

    2014-03-01

    Type II autoimmune polyglandular syndrome (APS), a relatively common endocrine disorder, includes primary adrenal insufficiency coupled with type 1 diabetes mellitus and/or autoimmune primary hypothyroidism. Autoimmune serositis, an associated disease, may present as symptomatic pericardial effusion. We present a case of a 54-year old male with APS who developed pericarditis leading to cardiac tamponade with a subacute loculated effusion. After urgent pericardiocentesis intrapericardial pressure dropped to 0, while central venous pressures remain elevated, consistent with acute effusive constrictive pericarditis. Contrast computerized tomography confirmed increased pericardial contrast enhancement. The patient recovered after prolonged inotropic support and glucocorticoid administration. He re-accumulated the effusion 16 days later, requiring repeat pericardiocentesis. Effusive-constrictive pericarditis, an uncommon pericardial syndrome, is characterized by simultaneous pericardial inflammation and tamponade. Prior cases of APS associated with cardiac tamponade despite low volumes of effusion have been reported, albeit without good demonstration of hemodynamic findings. We report a case of APS with recurrent pericardial effusion due to pericarditis and marked hypotension with comprehensive clinical and hemodynamic assessment. These patients may require aggressive support with pericardiocentesis, inotropes, and hormone replacement therapy. They should be followed closely for recurrent tamponade.

  13. Therapeutic approach to "downhill" esophageal varices bleeding due to superior vena cava syndrome in Behcet's disease: a case report

    Directory of Open Access Journals (Sweden)

    Haghighi Mahshid

    2006-12-01

    Full Text Available Abstract Background One of the rare presentations of superior vena cava syndrome is bleeding of "downhill" esophageal varices (DEV and different approaches have been used to control it. This is a case report whose DEV was eradicated by band ligation for the first time. Case presentation We report a 42-year-old man who is a known case of Behcet's disease. The patient's first presentation was superior vena cava syndrome due to thrombosis followed by bipolar ulcers and arthralgia. He received warfarin, prednisolone and azathioprine. The clinical course of the patient was complicated by one episode of hematemesis without abdominal pain when the patient's PT was in therapeutic range. After resuscitation and correction of PT with fresh frozen plasma transfusion, upper gastrointestinal endoscopy was done. Prominent varices were seen in the upper third of the esophagus, tapering to the middle part without acute bleeding. Stomach and duodenum were normal. Color ultrasonography evaluation of the portal, hepatic and splenic veins was negative for thrombosis. Band ligation was done and the patient's bleeding did not recur. Conclusion Band ligation is a safe and effective method for controlling DEV bleeding in patients with uncorrectable underlying disorders.

  14. Therapeutic approach to "downhill" esophageal varices bleeding due to superior vena cava syndrome in Behcet's disease: a case report

    Science.gov (United States)

    Tavakkoli, Hamid; Asadi, Mehrnaz; Haghighi, Mahshid; Esmaeili, Abbas

    2006-01-01

    Background One of the rare presentations of superior vena cava syndrome is bleeding of "downhill" esophageal varices (DEV) and different approaches have been used to control it. This is a case report whose DEV was eradicated by band ligation for the first time. Case presentation We report a 42-year-old man who is a known case of Behcet's disease. The patient's first presentation was superior vena cava syndrome due to thrombosis followed by bipolar ulcers and arthralgia. He received warfarin, prednisolone and azathioprine. The clinical course of the patient was complicated by one episode of hematemesis without abdominal pain when the patient's PT was in therapeutic range. After resuscitation and correction of PT with fresh frozen plasma transfusion, upper gastrointestinal endoscopy was done. Prominent varices were seen in the upper third of the esophagus, tapering to the middle part without acute bleeding. Stomach and duodenum were normal. Color ultrasonography evaluation of the portal, hepatic and splenic veins was negative for thrombosis. Band ligation was done and the patient's bleeding did not recur. Conclusion Band ligation is a safe and effective method for controlling DEV bleeding in patients with uncorrectable underlying disorders. PMID:17192182

  15. Medical image of the week: abdominal compartment syndrome due to massive upper gastrointestinal hemorrhage

    Directory of Open Access Journals (Sweden)

    Truong VN

    2014-11-01

    Full Text Available No abstract available. Article truncated after 150 words. A 29 year old woman with history of a Whipple procedure for pancreatic cancer and nonalcoholic steatohepatitis cirrhosis presented with a massive upper gastrointestinal bleeding (UGIB likely from esophageal varices and developed hemorrhagic shock. Emergent upper endoscopy could not be performed due to hemodynamic instability. Therefore, a Minnesota Tube was placed emergently for balloon tamponade of the bleeding. A transjugular intrahepatic portosystemic shunt was also placed emergently to decrease bleeding by reducing portal pressure. By this time, the patient had received 4 liters of normal saline, 14 units of packed red blood cells, 6 units of platelets, and 4 units of fresh frozen plasma. The Minnesota tube did control the bleeding somewhat, however, there was continued bloody drainage from the stomach port of the Minnesota tube. The patient’s abdomen became remarkably distended and was dull to percussion throughout. A CT scan of the abdomen and pelvis revealed severe dilatation of ...

  16. Statistical versus Musical Significance: Commentary on Leigh VanHandel's 'National Metrical Types in Nineteenth Century Art Song'

    Directory of Open Access Journals (Sweden)

    Justin London

    2010-01-01

    Full Text Available In “National Metrical Types in Nineteenth Century Art Song” Leigh Van Handel gives a sympathetic critique of William Rothstein’s claim that in western classical music of the late 18th and 19th centuries there are discernable differences in the phrasing and metrical practice of German versus French and Italian composers. This commentary (a examines just what Rothstein means in terms of his proposed metrical typology, (b questions Van Handel on how she has applied it to a purely melodic framework, (c amplifies Van Handel’s critique of Rothstein, and then (d concludes with a rumination on the reach of quantitative (i.e., statistically-driven versus qualitative claims regarding such things as “national metrical types.”

  17. [Nitric oxide inhalation as an effective therapy for acute respiratory distress syndrome due to near-drowning: a case report].

    Science.gov (United States)

    Takano, Y; Hirosako, S; Yamaguchi, T; Saita, N; Suga, M; Kukita, I; Okamoto, K; Ando, M

    1999-12-01

    A 16-year-old boy with acute respiratory distress syndrome (ARDS) due to near-drowning was admitted to our hospital. ARDS was treated with low-level nitric oxide (NO) inhalation (ranging from 4 ppm to 1 ppm) for 24 days. Oxygenation was improved and pulmonary hypertension was reduced after NO inhalation, but systemic blood pressure, heart rate, and cardiac output were not affected. PaO2 improved from 153 Torr to 354 Torr under identical ventilating conditions (F1O2 1.0), and mean pulmonary arterial pressure fell from 40 mm Hg to 27 mmHg. It has been reported that NO inhalation alleviates ventilation-flow mismatch and pulmonary hypertension. It is unclear, however, whether this therapy improves the prognosis for ARDS. In our patient, NO inhalation was effective in alleviating the oxygenation impairment and pulmonary hypertension associated with ARDS.

  18. Daily surface water temperature data collected from bucket casts from pier at Leigh Marine Laboratory, Auckland, New Zealand from 1967-01-01 to 2011-04-30 (NCEI Accession 0127323)

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Collected seawater temperatures at the Leigh Marine Laboratory. Dataset contains an archive of material to 2011. The location of the laboratory is lat: -36.26929,...

  19. Recurrent Fever of Unknown Origin (FUO) Due to Periodic Fever, Aphthous Stomatititis, Pharyngitis and Adenitis (FAPA) Syndrome in an Adult

    OpenAIRE

    Sigridh Muñoz-Gómez; Cunha, Burke A.

    2013-01-01

    FAPA syndrome (periodic fever, aphthous stomatititis, pharyngitis and adenitis) is a relatively new entity described in pediatric patients. In adults, reports of FAPA are limited to rare case reports. The differential diagnosis of FAPA in adults includes Behcet’s syndrome, familial Mediterranean fever (FMF), Hyper IgD syndrome and juvenile rheumatoid arthritis (JRA), i.e., adult Still’s disease. With FAPA syndrome, between episodes patients are completely asymptomatic and serologic inflammato...

  20. Segmental overgrowth syndrome due to an activating PIK3CA mutation identified in affected muscle tissue by exome sequencing

    DEFF Research Database (Denmark)

    Rasmussen, Maria; Sunde, Lone; Weigert, Karen Petra;

    2014-01-01

    Mosaic PIK3CA-mutations have been described in an increasing number of overgrowth syndromes. We describe a patient with a previously unreported segmental overgrowth syndrome with the mutation, PIKCA3 c.3140A>G (p.His1047Arg) in affected tissue diagnosed by exome sequencing. This PIK3CA-associated......-associated segmental overgrowth syndrome overlaps with CLOVES syndrome and fibroadipose hyperplasia but is distinct from each of these entities....

  1. Intermittent Fever, Progressive Weight Gain, and Personality Changes in a Five-Year-Old Girl: Unusual Paraneoplastic Syndrome due to Presacral Ganglioneuroma

    Directory of Open Access Journals (Sweden)

    Chao Yang

    2016-01-01

    Full Text Available Ganglioneuromas are rare tumors in the neuroblastoma group. Paraneoplastic syndrome (PNS due to presacral ganglioneuromas was hardly reported in previous literature. Here, we reported that a case of a 5-year-old girl with a presacral ganglioneuroma presented with PNS, who presented with intermittent fever, progressive weight gain, and personality changes. Our report revealed intermittent fever, progressive weight gain, and personality changes may represent rare paraneoplastic syndromes in ganglioneuromas.

  2. Down Syndrome Due to Unbalanced Homologous Acrocentric Rearrangements and its Recurrence in Subsequent Pregnancies: Prenatal Diagnosis by Amniocentesis

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2009-12-01

    Conclusion: We found a frequency of 0.019% for rea(21q21q Down syndrome in patients undergoing amniocentesis. Down syndrome caused by the homologous rearrangement rea(21q21q can be associated with recurrence. Prenatal diagnosis of rea(21q21q Down syndrome should include extensive cytogenetic and molecular analyses of the parents and probands.

  3. Japanese case of Budd-Chiari syndrome due to hepatic vein thrombosis successfully treated with liver transplantation.

    Science.gov (United States)

    Iwasaki, Tomohiro; Kawai, Hirokazu; Oseki, Koushi; Togashi, Tadayuki; Shioji, Kazuhiko; Yamamoto, Satoshi; Sato, Yoshinobu; Suzuki, Kenji; Toba, Ken; Nomoto, Minoru; Hatakeyama, Katsuyoshi; Aoyagi, Yutaka

    2012-02-01

    A 22-year-old Japanese woman was found to have severe esophageal varices and then suffered from hepatic encephalopathy. She was diagnosed with Budd-Chiari syndrome (BCS) due to hepatic vein (HV) thrombosis accompanied by portal vein thrombosis without inferior vena cava (IVC) obstruction. Latent myeloproliferative neoplasm (MPN) lacking the JAK2-V617F mutation was considered to be the underlying disease. Liver transplantation was strikingly effective for treating the clinical symptoms attributable to portal hypertension. Although thrombosis of the internal jugular vein occurred due to thrombocythemia, which manifested after transplantation despite anticoagulation therapy with warfarin, the thrombus immediately disappeared with the addition of aspirin. Neither thrombosis nor BCS has recurred in more than 4 years since the amelioration of the last thrombotic event, and post-transplant immunosuppression with tacrolimus has not accelerated the progression of MPN. In Japan, IVC obstruction, which was a predominant type of BCS, is suggested to have decreased in incidence with recent improvements in hygiene. The precise diagnosis of BCS and causative underlying diseases should be made with attention to the current trend of the disease spectrum, which fluctuates with environmental sanitation levels. Because the stepwise strategy, including liver transplantation, has been proven effective for patients with pure HV obstruction in Western countries, this strategy should also be validated for utilization in Japan and in developing countries where HV obstruction potentially predominates.

  4. Inter ventional Mechanism of Tongxieyao Formula on Irritable Bowel Syndrome due to Liver Depression and Spleen Deifciency

    Institute of Scientific and Technical Information of China (English)

    Qian Feng; Bo Ping

    2013-01-01

    Objective:To investigate the efficacy and interventional mechanism of Tongxieyao Formula (TXYF) on rat model with irritable bowel syndrome (IBS) due to liver depression and spleen deifciency. Methods:75 newborn SD rats were randomly divided into groups A, B, C, D and E. Except group A, the rats in other groups were treated with senna and strained stress to establish IBS models due to liver depression and spleen deifciency. Groups A and B were fed with intra-gastric normal saline, group C pinaverium bromide, groups D and E TXYF. After treatment, animals were sacriifced to excise colons, and modiifed toluidine blue staining was applied to observe the changes of colonic mucosal mast cell (MC) count and de-granulation conditions in rats. Then the levels of 5-hydroxytryptamine (5-HT), P substance (SP), calcitonin gene-related peptide (CGRP) in blood samples were detected. Results:The counts of colonic mucosal MC and de-granulation increased signiifcantly in model control group. The levels of 5-HT, SP signiifcantly decreased while CGRP increased in C, D and group Es. Conclusion:TXYF can play its role of improving gastrointestinal mobility and reduce visceral sensitivity so as to treat IBS through reducing the counts of colonic mucosal MC and de-granulation as well as the levels of serum 5-HT and plasma SP, and increasing the level of CGRP in IBS model rats.

  5. Guyon's canal syndrome due to tortuous ulnar artery with DeQuervain stenosing tenosynovitis, ligamentous injuries and dorsal intercalated segmental instability syndrome, a rare presentation: a case report

    OpenAIRE

    Zeeshan, Muhammad; Ahmed, Farhan; Kanwal, Darakhshan; Khalid, Qazi Saad Bin; Ahmed, Muhammad Nadeem

    2009-01-01

    The Guyon's canal syndrome is a well known clinical entity and may have significant impact on patient's quality of life. We report a case of 43-year-old male who presented with complaints of pain and numbness in right hand and difficulty in writing for past one month. On imaging diagnosis of Guyon's canal syndrome because of tortuous ulnar artery was made with additional findings of DeQuervain's stenosing tenosynovitis and dorsal intercalated segmental instability syndrome with ligamentous in...

  6. Guyon's canal syndrome due to tortuous ulnar artery with DeQuervain stenosing tenosynovitis, ligamentous injuries and dorsal intercalated segmental instability syndrome, a rare presentation: a case report.

    Science.gov (United States)

    Zeeshan, Muhammad; Ahmed, Farhan; Kanwal, Darakhshan; Khalid, Qazi Saad Bin; Ahmed, Muhammad Nadeem

    2009-12-23

    The Guyon's canal syndrome is a well known clinical entity and may have significant impact on patient's quality of life. We report a case of 43-year-old male who presented with complaints of pain and numbness in right hand and difficulty in writing for past one month. On imaging diagnosis of Guyon's canal syndrome because of tortuous ulnar artery was made with additional findings of DeQuervain's stenosing tenosynovitis and dorsal intercalated segmental instability syndrome with ligamentous injury and subsequently these were confirmed on surgery.Although it is a rare syndrome, early diagnosis and treatment prevents permanent neurological deficits and improve patient's quality of life.

  7. Successful treatment of life-threatening Evans syndrome due to antiphospholipid antibody syndrome by rituximab-based regimen: a case with long-term follow-up.

    Science.gov (United States)

    Rückert, A; Glimm, H; Lübbert, M; Grüllich, C

    2008-08-01

    An association of antiphospholipid antibody syndrome with antibodies directed against either phospholipids or plasma proteins strongly suggest that B-cell dysfunction may be involved in its pathogenesis. Antiphospholipid antibody syndrome with autoimmune cytopenias shows a poor response rate to conventional treatment with anticoagulants, glucocorticosteroids, immunosuppressive agents, intravenous immunoglobulin or plasmapheresis. We report a case of life-threatening antiphospholipid antibody syndrome with Evans syndrome receiving successful multimodal treatment including anti-CD20 monoclonal antibody rituximab with long-term follow-up.

  8. [Survival by a young woman with malnutrition due to alcoholism and eating disorders and with acute respiratory distress syndrome due to severe pneumonia who showed increased serum neutrophil elastase activity].

    Science.gov (United States)

    Nakajima, Hirokazu; Sawaguchi, Hirochiyo; Nakajima, Shigenori

    2006-11-01

    A 30-year-old woman with malnutrition due to alcoholism and eating disorders was found to have acute respiratory distress syndrome (ARDS) and sepsis due to severe Streptococcus pneumoniae pneumonia. S. pneumoniae was detected by an in vitro rapid immunochromatographic assay for S. pneumoniae antigen in urine on the day of admission and by blood culture 2 days after admission. Symptoms and laboratory findings improved after treatment with sivelestat sodium hydrate, antibiotics, and mechanical ventilation. Treatment with sivelestat sodium hydrate also decreased serum neutrophil elastase activity. This case demonstrates the usefulness of early treatment with sivelestat sodium hydrate in ARDS due to severe pneumonia.

  9. A Gut Gone to Pot: A Case of Cannabinoid Hyperemesis Syndrome due to K2, a Synthetic Cannabinoid

    Directory of Open Access Journals (Sweden)

    Anene Ukaigwe

    2014-01-01

    Full Text Available Cannabinoid Hyperemesis Syndrome (CHS was first described in 2004. Due to its novelty, CHS is often unrecognized by clinicians leading to expensive workup of these patients with cyclical symptoms. It may take up to 9 years to diagnose CHS. CHS is characterized by cyclical nausea and vomiting, abdominal pain, and an unusual compulsion to take hot showers in the presence of chronic use of cannabinoids. Cannabicyclohexanol is a synthetic cannabinoid, popularly known as K2 spice. It is a popular marijuana alternative among teenagers and young adults since it is readily available as herbal incense. Unlike marijuana, many users know that K2 is not detected in conventional urine drug screens, allowing those users to conceal their intake from typical detection methods. Serum or urine gas chromatography mass spectrophotometry is diagnostic, though not widely available. Thus, it is imperative for clinicians to recognize CHS, even with negative UDS, to provide cost-effective care. We present a 38-year-old man with a 10-year history of cannabis, and 1-year history of K2 abuse admitted with 1-week history of episodes of nausea, vomiting of clear fluids, and epigastric discomfort. Symptoms are relieved only by hot showers. Extensive laboratory, radiologic, and endoscopic evaluation was unrevealing. CHS was diagnosed, based on proposed criteria by Simonetti et al.

  10. Silver-Russell syndrome due to maternal uniparental disomy 7 and a familial reciprocal translocation t(7;13).

    Science.gov (United States)

    Behnecke, A; Hinderhofer, K; Jauch, A; Janssen, J W G; Moog, U

    2012-11-01

    Silver-Russell syndrome (SRS) is a genetically heterogeneous disorder characterized by intrauterine and postnatal growth retardation, typical facial features and a spectrum of additional features including body and limb asymmetry and clinodactyly. Maternal uniparental disomy for chromosome 7 (upd(7)mat) was shown to occur in 5-10% of patients with SRS. Maternal UPD7 is clinically often associated with mild SRS. Parents of an affected child are given a negligible recurrence risk as all reported cases with upd(7)mat have been sporadic so far. In general, chromosomal rearrangements-like translocations increase the likelihood of uniparental disomy (UPD) for the chromosomes involved. However, SRS as the result of a upd(7)mat in association with an inherited chromosomal translocation involving chromosome 7 has only been reported once before. Here, we describe the second case of SRS with upd(7)mat due to a familial reciprocal translocation t(7;13). This emphasizes the importance of chromosome analysis in SRS patients with upd(7)mat to rule out chromosomal rearrangements despite their rare occurrence as they are of great relevance for genetic counseling of SRS families.

  11. Síndrome do canal de Guyon causada por cisto sinovial Guyon's canal syndrome due to a synovial cyst

    Directory of Open Access Journals (Sweden)

    Evandro Silva Ruas

    2010-01-01

    Full Text Available Apresentamos um caso de síndrome do canal de Guyon por um cisto sinovial no punho esquerdo de uma paciente do sexo feminino, de 48 anos. A paciente apresentava dor e parestesia na topografia do nervo ulnar, diminuição da força muscular e deformidade na mão esquerda. A eletroneuromiografia evidenciava compressão do nervo ulnar no nível do punho. Realizada a ressecção do cisto e descompressão do nervo no canal de Guyon. Após a cirurgia a paciente apresentou melhora da dor e da parestesia, além de aumento do trofismo muscular e correção da deformidade.The authors present a case of Guyon's canal syndrome due to a synovial cyst within the left wrist of a 48-year-old female patient. The patient reported pain and paresthesia in the topography of the ulnar nerve, loss of muscular strength and left hand deformity. Electromyography showed a compression of the ulnar nerve at the wrist level. Surgical decompression at the Guyon canal with resection of the cyst was performed. After surgery, the patient presented with improvement of pain and paresthesia, as well as an increase in muscular trophism and correction of the deformity.

  12. Cutaneous reactions simulating erythema multiforme and Stevens Johnson syndrome due to occupational exposure to a plant-growth regulator

    Directory of Open Access Journals (Sweden)

    Inamadar Arun

    2007-01-01

    Full Text Available Background: In India, hydrogen cyanamide (Dormex ® is a plant growth regulator used mainly for the bud-breaking of grapevines. The use of this chemical may result in severe cutaneous reactions simulating erythema multiforme (EM, Stevens-Johnson syndrome (SJS and toxic epidermal necrolysis (TEN. Methods: Studies were conducted on four seasonal grapevine workers who developed severe cutaneous reactions following the unprotected use of Dormex ® (hydrogen cyanamide. Results: Two of the patients had EM-like skin lesions and the other two developed SJS-TEN-like skin lesions. A latent period of 5-7 days existed between the contact with the chemical and the development of the skin lesions. The histopathological picture was suggestive of EM. All the patients responded to systemic steroids and antihistamines. Conclusions: Hydrogen cyanamide may act as a hapten, initiating cytotoxic immunological attack on keratinocytes, resulting in EM- and SJS-TEN-like clinical picture. Awareness regarding such severe cutaneous reactions due to the inappropriate handling of Dormex ® is required. The use of personal protection equipments while handling agricultural chemicals is essential.

  13. Intermittent claudication in diabetes mellitus due to chronic exertional compartment syndrome of the leg: an observational study of 17 patients.

    Science.gov (United States)

    Edmundsson, David; Svensson, Olle; Toolanen, Göran

    2008-08-01

    Intermittent claudication in diabetes mellitus is commonly associated with arterial disease but may occur without obvious signs of peripheral circulatory impairment. We investigated whether this could be due to chronic exertional compartment syndrome (CECS). We report on 17 patients (3 men), mean age 39 (18-72) years, with diabetes mellitus--12 of which were type 1--and leg pain during walking (which was relieved at rest), without clinical signs of peripheral arterial disease. The duration of diabetes was 22 (1-41) years and 12 patients had peripheral neuropathy, retinopathy, or nephropathy. The leg muscles were tender and firm on palpation. Radiography, scintigraphy, and intramuscular pressure measurements were done during exercises to reproduce their symptoms. 16 of the 17 patients were diagnosed as having CECS. The intramuscular pressures in leg compartments were statistically significantly higher in diabetics than in physically active non-diabetics with CECS (p leg pain increased after surgery from less than 10 min to unlimited time in 8 of 9 patients who were followed up. Intermittent claudication in diabetics may be caused by CECS of the leg. The intramuscular pressures were considerably elevated in diabetics. One pathomechanism may be fascial thickening. The results after fasciotomy are good, and the increased pain-free walking time is especially beneficial for diabetics.

  14. Effective Strategies for Diagnosis of Systemic Inflammatory Response Syndrome (SIRS) due to Bacterial Infection in Surgical Patients.

    Science.gov (United States)

    Stubljar, David; Skvarc, Miha

    2015-01-01

    Surgery associated with trauma and soft tissue injuries after surgery significantly activates the systemic immune response. If an infection after surgery occurs, the response is even stronger. Due to spontaneous activation of immune response and elevated biomarkers for sepsis and cytokines, posttraumatic complications such as new-coming postoperative infections are difficult to diagnose. Sepsis as systemic inflammatory response syndrome (SIRS) rapidly progresses through severe sepsis to septic shock and organ failure, and with no applied antibiotic treatment, the disease often ends at death of the patients. In the treatment of non-surgery patients, the biomarkers like white cell blood count, C-reactive protein (CRP) or procalcitonin (PCT) proved to be useful in sepsis recognition. However, diagnostics after surgeries are more complicated and these biomarkers are not ideal. The solution is a sepsis biomarker, which would have high sensitivity and specificity, that can improve diagnostic accuracy of sepsis, should also be measured easily by the patients, and should not be too expensive. We think more sensitive and specific biomarkers such as presepsin (sCD14-ST) or CD64 index on neutrophils could be useful. A diagnosis of sepsis should be based on clinical signs, and clinicians should use biomarker that is not only most sensitive and specific but also is cost effective. Furthermore, confirmation of the bacterial or fungal infection with blood cultures or with the use of broad range polymerase chain reaction (PCR), when culturing is impossible, should be performed.

  15. Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.

    Science.gov (United States)

    Leslie, Nancy; Wang, Xinjian; Peng, Yanyan; Valencia, C Alexander; Khuchua, Zaza; Hata, Jessica; Witte, David; Huang, Taosheng; Bove, Kevin E

    2016-03-01

    Complex I deficiency causes Leigh syndrome, fatal infant lactic acidosis, and neonatal cardiomyopathy. Mutations in more than 100 nuclear DNA and mitochondrial DNA genes miscode for complex I subunits or assembly factors. ACAD9 is an acyl-CoA dehydrogenase with a novel function in assembly of complex I; biallelic mutations cause progressive encephalomyopathy, recurrent Reye syndrome, and fatal cardiomyopathy. We describe the first autopsy in fatal neonatal lethal lactic acidosis due to mutations in ACAD9 that reduced complex I activity. We identified mitochondrial hyperplasia in cardiac myocytes, diaphragm muscle, and liver and renal tubules in formalin-fixed, paraffin-embedded tissue using immunohistochemistry for mitochondrial antigens. Whole-exome sequencing revealed compound heterozygous variants in the ACAD9 gene: c.187G>T (p.E63*) and c.941T>C (p.L314P). The nonsense mutation causes late infantile lethality; the missense variant is novel. Autopsy-derived fibroblasts had reduced complex I activity (53% of control) with normal activity in complexes II to IV, similar to reported cases of ACAD9 deficiency.

  16. Thalidomide for treatment of gastrointestinal bleedings due to angiodysplasia : a case report in acquired von Willebrand syndrome and review of the literature

    NARCIS (Netherlands)

    Engelen, E T; van Galen, K P M; Schutgens, R E G

    2015-01-01

    INTRODUCTION: Acquired von Willebrand syndrome is a rare bleeding disorder and treatment of the associated gastrointestinal (GI) bleeding due to angiodysplasia is challenging. AIM: The aim of this study was to present a new case on the successful use of thalidomide in a patient with acquired von Wil

  17. Use of noninvasive ventilation in severe acute respiratory distress syndrome due to accidental chlorine inhalation: a case report

    Science.gov (United States)

    Matos, Adriano Medina; de Oliveira, Rodrigo Ribeiro; Lippi, Mauro Martins; Takatani, Rodrigo Ryoji; de Oliveira Filho, Wilson

    2017-01-01

    Acute respiratory distress syndrome is characterized by diffuse inflammatory lung injury and is classified as mild, moderate, and severe. Clinically, hypoxemia, bilateral opacities in lung images, and decreased pulmonary compliance are observed. Sepsis is one of the most prevalent causes of this condition (30 - 50%). Among the direct causes of acute respiratory distress syndrome, chlorine inhalation is an uncommon cause, generating mucosal and airway irritation in most cases. We present a case of severe acute respiratory distress syndrome after accidental inhalation of chlorine in a swimming pool, with noninvasive ventilation used as a treatment with good response in this case. We classified severe acute respiratory distress syndrome based on an oxygen partial pressure/oxygen inspired fraction ratio <100, although the Berlin classification is limited in considering patients with severe hypoxemia managed exclusively with noninvasive ventilation. The failure rate of noninvasive ventilation in cases of acute respiratory distress syndrome is approximately 52% and is associated with higher mortality. The possible complications of using noninvasive positive-pressure mechanical ventilation in cases of acute respiratory distress syndrome include delays in orotracheal intubation, which is performed in cases of poor clinical condition and with high support pressure levels, and deep inspiratory efforts, generating high tidal volumes and excessive transpulmonary pressures, which contribute to ventilation-related lung injury. Despite these complications, some studies have shown a decrease in the rates of orotracheal intubation in patients with acute respiratory distress syndrome with low severity scores, hemodynamic stability, and the absence of other organ dysfunctions. PMID:28444079

  18. Single-Session CT-Guided Percutaneous Microwave Ablation of Bilateral Adrenal Gland Hyperplasia Due to Ectopic ACTH Syndrome.

    Science.gov (United States)

    Sarma, Asha; Shyn, Paul B; Vivian, Mark A; Ng, Ju-Mei; Tuncali, Kemal; Lorch, Jorchen H; Zaheer, Sarah N; Gordon, Michael S; Silverman, Stuart G

    2015-10-01

    Bilateral adrenalectomy is currently the only available treatment for adrenocorticotropic hormone (ACTH)-dependent Cushing's syndrome (ectopic ACTH syndrome) that is refractory to pharmacologic therapy. We describe two patients with refractory ectopic ACTH syndrome who were treated with CT-guided percutaneous microwave ablation of both hyperplastic adrenal glands in a single session: O ne was not a surgical candidate, and the other had undergone unsuccessful surgery. Following the procedure, both patients achieved substantial decreases in serum cortisol, symptomatic improvement, and decreased anti-hypertensive medication requirements.

  19. Single-Session CT-Guided Percutaneous Microwave Ablation of Bilateral Adrenal Gland Hyperplasia Due to Ectopic ACTH Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Sarma, Asha, E-mail: ashasarma@gmail.com; Shyn, Paul B., E-mail: pshyn@partners.org [Brigham and Women’s Hospital, Department of Radiology (United States); Vivian, Mark A. [University of Manitoba, Department of Radiology (Canada); Ng, Ju-Mei [Brigham and Women’s Hospital, Department of Anesthesiology (United States); Tuncali, Kemal [Brigham and Women’s Hospital, Department of Radiology (United States); Lorch, Jorchen H. [Dana Farber Cancer Institute, Department of Medicine (United States); Zaheer, Sarah N.; Gordon, Michael S. [Brigham and Women’s Hospital, Department of Endocrinology (United States); Silverman, Stuart G. [Brigham and Women’s Hospital, Department of Radiology (United States)

    2015-10-15

    Bilateral adrenalectomy is currently the only available treatment for adrenocorticotropic hormone (ACTH)-dependent Cushing’s syndrome (ectopic ACTH syndrome) that is refractory to pharmacologic therapy. We describe two patients with refractory ectopic ACTH syndrome who were treated with CT-guided percutaneous microwave ablation of both hyperplastic adrenal glands in a single session: One was not a surgical candidate, and the other had undergone unsuccessful surgery. Following the procedure, both patients achieved substantial decreases in serum cortisol, symptomatic improvement, and decreased anti-hypertensive medication requirements.

  20. Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant.

    Science.gov (United States)

    Yeetong, Patra; Vilboux, Thierry; Ciccone, Carla; Boulier, Kristin; Schnur, Rhonda E; Gahl, William A; Huizing, Marjan; Laje, Gonzalo; Smith, Ann C M

    2016-09-01

    We report a 25-year-old female confirmed to have Smith-Magenis syndrome (SMS) due to a de novo RAI1 variant. Her past history is significant for developmental and intellectual delay, early and escalating maladaptive behaviors, and features consistent with significant sleep disturbance, the etiology of which was not confirmed for over two decades. The diagnosis of SMS was initially suspected in 1998 (at age 12 years), but that was 5 years before the initial report of RAI1 variants as causative of the SMS phenotype; cytogenetic fluorescence in situ hybridization studies failed to confirm an interstitial deletion of 17p11.2. Re-evaluation for suspected SMS was pursued with RAI1 sequencing analysis in response to urgent parental concerns of escalating behaviors and aggression with subsequent incarceration of the subject for assault of a health professional. Genetic analysis revealed a de novo RAI1 (NM_030665.3) nonsense variant, c.5536C>T; p.Q1846X. This case illustrates the importance of confirming the SMS diagnosis, which is associated with cognitive and functional impairment, as well as significant psychiatric co-morbidities and behavioral problems. The diagnosis was particularly relevant to the legal discussion and determination of her competence to stand trial. As other similar cases may exist, this report will help to increase awareness of the possibility of a very late diagnosis of SMS, with the need for re-evaluation of individuals suspected to have SMS who were initially evaluated prior to the identification of the RAI1 gene. © 2016 Wiley Periodicals, Inc.

  1. Chipman Leigh, The World of Pharmacy and Pharmacists in Mamlūk Cairo, Leyde, Brill, 2009, 318 p.

    Directory of Open Access Journals (Sweden)

    Sylvie Denoix

    2011-05-01

    Full Text Available Le livre de Leigh Chipman est l’analyse d’un ouvrage de pharmacologie, le Minhâǧ al-dukkân wa dustûr al-a‘yân fî’l-a‘mâl wa’l-tarâkib al-adwiya al-nâfi‘a  li’l-insân , soit « Le protocole de l’officine et  la convention de ce qu’il y a de meilleur en ce qui concerne les préparations et les compositions des médicaments bénéfiques aux êtres humains », composé en 658h/1260 au Caire par un pharmacien juif égyptien nommé Abû-l-Munâ Dâwud b. Abî Naṣr al-Kûhîn al-‘Aṭṭâr al-Hârûnî al-Isrâ’ilî. Cet ou...

  2. Hyponatremia in aneurysmal subarachnoid hemorrhage is due to the syndrome of inappropriate antidiuresis and acute glucocorticoid deficiency

    LENUS (Irish Health Repository)

    Hannon, M J

    2011-06-01

    Hyponatraemia is the most common electrolyte abnormality following subarachnoid haemorrhage (SAH) and contributes to increased morbidity and mortality. Retrospective data suggests that the syndrome of inappropriate diuresis (SIAD) is the most common cause of hyponatraemia in SAH, though cerebral salt wasting has been postulated by some workers to be the predominant abnormality. Data which has shown acute glucocorticoid deficiency following SAH has suggested that some cases of euvolaemic hyponatraemia may also be caused by this mechanism.We prospectively studied the hormonal and haemodynamic influences involved in the development of hyponatraemia in 100 patients (61% female, median age 53 (range 16-82)) with non-traumatic aneurysmal SAH. Each patient had plasma sodium (pNa), urea, osmolality, glucose and 0900h cortisol (PC), and urinary sodium and osmolality measured on days 1, 2, 3, 4, 6, 8, 10 and 12 following SAH. Fluid balance and haemodynamic parameters were recorded daily. Results were compared with 15 patients admitted to ITU following vascular surgery. A PC<300nmol\\/L in a patient in ITU was regarded clinically as inappropriately low.49% of patients developed hyponatraemia (pNa<135 mmol\\/L), including 14% who developed clinically significantly hyponatraemia (pNa<130 mmol\\/L). 36\\/49 (73.4%) developed hyponatraemia between days 1 and 3 post SAH. The median duration of hyponatraemia was 3 days (range 1–10 days).In 35\\/49 (71.4%), hyponatraemia was due to SIAD as defined by standard diagnostic criteria. 14% of SAH patients had at least one PC<300nmol\\/L; 5 of these (35.7%) developed hyponatraemia. In 4 patients hyponatraemia was preceded by acute cortisol deficiency and responded to hydrocortisone treatment. In contrast, all controls had PC>500 nmol\\/L on day 1, and >300 nmol on days 3–12. There were no cases of cerebral salt wasting. There was no relationship between the incidence of hyponatraemia and the defined anatomical territory or severity of

  3. Diagnostic Dilemma: Lymphocytopenia in a Patient with Thymoma - Side Effect due to Irradiation Treatment or Development of Good's Syndrome?

    DEFF Research Database (Denmark)

    Raaschou-Jensen, Klas; Katzenstein, Terese L; Marquart, Hanne

    2010-01-01

    A case of persistent B-cell lymphocytopenia in a 40-year-old woman with lymphoid-epithelial thymoma treated with chemotherapy, surgery and irradiation is described. The possible diagnosis of Good's syndrome (hypogammaglobulinaemia and thymoma) is discussed....

  4. Megakaryocytic dysfunction in myelodysplastic syndromes and idiopathic thrombocytopenic purpura is in part due to different forms of cell death

    NARCIS (Netherlands)

    Houwerzijl, E. J.; Blom, N. R.; van der Want, J. J. L.; Vellenga, E.; de Wolf, J. T. M.

    2006-01-01

    Platelet production requires compartmentalized caspase activation within megakaryocytes. This eventually results in platelet release in conjunction with apoptosis of the remaining megakaryocyte. Recent studies have indicated that in low-risk myelodysplastic syndromes (MDS) and idiopathic thrombocyto

  5. Papular-purpuric "gloves and socks" syndrome due to parvovirus B19: report of a case with unusual features

    Directory of Open Access Journals (Sweden)

    PASSONI Luiz Fernando C.

    2001-01-01

    Full Text Available We present a case of papular-purpuric "gloves and socks" syndrome (PPGSS in an adult male with acute parvovirus B19 infection. The patient displayed the classical features of fever, oral lesions, and purpura on hands and feet, but the purpuric lesions on the feet evolved to superficial skin necrosis, a feature not previously described in this syndrome. We believe this is the first reported case of PPGSS occurring in Brazil.

  6. Efficacy of the low FODMAP diet for treating irritable bowel syndrome: the evidence to date

    OpenAIRE

    Nanayakkara WS; Skidmore PML; O’Brien L; Wilkinson TJ; Gearry RB

    2016-01-01

    Wathsala S Nanayakkara,1 Paula ML Skidmore,1 Leigh O'Brien,2 Tim J Wilkinson,3 Richard B Gearry,31Department of Human Nutrition, University of Otago, Dunedin, New Zealand; 2Dietary Specialists, Christchurch, New Zealand; 3Department of Medicine, University of Otago, Christchurch, New Zealand Abstract: This review summarizes the published clinical studies concerning the management of irritable bowel syndrome (IBS) using restriction of Fermentable Oligosaccharide, Disaccharide, Monosac...

  7. Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients.

    Science.gov (United States)

    Katzaki, Eleni; Morin, Gilles; Pollazzon, Marzia; Papa, Filomena Tiziana; Buoni, Sabrina; Hayek, Joussef; Andrieux, Joris; Lecerf, Laure; Popovici, Cornel; Receveur, Aline; Mathieu-Dramard, Michèle; Renieri, Alessandra; Mari, Francesca; Philip, Nicole

    2010-07-01

    During the last few years, an increasing number of microdeletion/microduplication syndromes have been delineated. This rapid evolution is mainly due to the availability of microarray technology as a routine diagnostic tool. Microdeletions of the 21q22.11q22.12 region encompassing the RUNX1 gene have been reported in nine patients presenting with syndromic thrombocytopenia and mental retardation. RUNX1 gene is responsible for an autosomal dominant platelet disorder with predisposition to acute myelogenous leukemia. We report on three novel patients with an overlapping "de novo" interstitial deletion involving the band 21q22 characterized by array-CGH. All our patients presented with severe developmental delay, dysmorphic features, behavioral problems, and thrombocytopenia. Comparing the clinical features of our patients with the overlapping ones already reported two potential phenotypes related to 21q22 microdeletion including RUNX1 were highlighted: thrombocytopenia with +/- mild dysmorphic features and syndromic thrombocytopenia with growth and developmental delay.

  8. Endogenous Cushing's Syndrome with Precocious Puberty in an 8-Year-Old Boy due to a Large Unilateral Adrenal Adenoma

    Science.gov (United States)

    Hossain, Muhammad Rajib; Alam, Md. Mashiul; Nabi, Junaid; Kibria, Mahzabin

    2013-01-01

    Adrenocortical tumors (ACTs) causing Cushing's syndrome are extremely rare in children and adolescents. Bilateral macronodular adrenocortical disease which is a component of the McCune-Albright syndrome is the most common cause of endogenous Cushing's syndrome. We report the case of a boy with Cushing's syndrome who presented with obesity and growth retardation. The child was hypertensive. The biochemical evaluation revealed that his serum cortisol levels were 25.80 μg/dL, with a concomitant plasma ACTH level of 10.0 pg/mL and nonsuppressed serum cortisol on high-dose dexamethasone suppression test (HDDST) to be 20.38 μg/dL. Computed tomography of the abdomen demonstrated a 8 × 6 × 5 cm left adrenal mass with internal calcifications. Following preoperative stabilization, laparotomy was carried out which revealed a lobulated left adrenal mass with intact capsule weighing 120 grams. Histopathological examination revealed a benign cortical neoplastic lesion, suggestive of adrenal adenoma; composed of large polygonal cells with centrally placed nuclei and prominent nucleoli without capsular and vascular invasion. On the seventh postoperative day, cortisol levels were within normal range indicating biochemical remission of Cushing's syndrome. On followup after three months, the patient showed significant clinical improvement and had lost moderate amount of weight and adrenal imaging was found to be normal. PMID:23533838

  9. NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment

    Science.gov (United States)

    Casey, Jillian P.; Støve, Svein I.; McGorrian, Catherine; Galvin, Joseph; Blenski, Marina; Dunne, Aimee; Ennis, Sean; Brett, Francesca; King, Mary D.; Arnesen, Thomas; Lynch, Sally Ann

    2015-01-01

    We report two brothers from a non-consanguineous Irish family presenting with a novel syndrome characterised by intellectual disability, facial dysmorphism, scoliosis and long QT. Their mother has a milder phenotype including long QT. X-linked inheritance was suspected. Whole exome sequencing identified a novel missense variant (c.128 A > C; p.Tyr43Ser) in NAA10 (X chromosome) as the cause of the family’s disorder. Sanger sequencing confirmed that the mutation arose de novo in the carrier mother. NAA10 encodes the catalytic subunit of the major human N-terminal acetylation complex NatA. In vitro assays for the p.Tyr43Ser mutant enzyme showed a significant decrease in catalytic activity and reduced stability compared to wild-type Naa10 protein. NAA10 has previously been associated with Ogden syndrome, Lenz microphthalmia syndrome and non-syndromic developmental delay. Our findings expand the clinical spectrum of NAA10 and suggest that the proposed correlation between mutant Naa10 enzyme activity and phenotype severity is more complex than anticipated; the p.Tyr43Ser mutant enzyme has less catalytic activity than the p.Ser37Pro mutant associated with lethal Ogden syndrome but results in a milder phenotype. Importantly, we highlight the need for cardiac assessment in males and females with NAA10 variants as both patients and carriers can have long QT. PMID:26522270

  10. York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.

    Science.gov (United States)

    Markello, Thomas; Chen, Dong; Kwan, Justin Y; Horkayne-Szakaly, Iren; Morrison, Alan; Simakova, Olga; Maric, Irina; Lozier, Jay; Cullinane, Andrew R; Kilo, Tatjana; Meister, Lynn; Pakzad, Kourosh; Bone, William; Chainani, Sanjay; Lee, Elizabeth; Links, Amanda; Boerkoel, Cornelius; Fischer, Roxanne; Toro, Camilo; White, James G; Gahl, William A; Gunay-Aygun, Meral

    2015-03-01

    Store-operated Ca(2+) entry is the major route of replenishment of intracellular Ca(2+) in animal cells in response to the depletion of Ca(2+) stores in the endoplasmic reticulum. It is primarily mediated by the Ca(2+)-selective release-activated Ca(2+) (CRAC) channel, which consists of the pore-forming subunits ORAI1-3 and the Ca(2+) sensors, STIM1 and STIM2. Recessive loss-of-function mutations in STIM1 or ORAI1 result in immune deficiency and nonprogressive myopathy. Heterozygous gain-of-function mutations in STIM1 cause non-syndromic myopathies as well as syndromic forms of miosis and myopathy with tubular aggregates and Stormorken syndrome; some of these syndromic forms are associated with thrombocytopenia. Increased concentration of Ca(2+) as a result of store-operated Ca(2+) entry is essential for platelet activation. The York Platelet syndrome (YPS) is characterized by thrombocytopenia, striking ultrastructural platelet abnormalities including giant electron-opaque organelles and massive, multilayered target bodies and deficiency of platelet Ca(2+) storage in delta granules. We present clinical and molecular findings in 7 YPS patients from 4 families, demonstrating that YPS patients have a chronic myopathy associated with rimmed vacuoles and heterozygous gain-of-function STIM1 mutations. These findings expand the phenotypic spectrum of STIM1-related human disorders and define the molecular basis of YPS. Published by Elsevier Inc.

  11. Twist haploinsufficiency in Saethre-Chotzen syndrome induces calvarial osteoblast apoptosis due to increased TNFalpha expression and caspase-2 activation.

    Science.gov (United States)

    Yousfi, Malika; Lasmoles, Francoise; El Ghouzzi, Vincent; Marie, Pierre J

    2002-02-15

    Saethre-Chotzen syndrome (SCS) is a human autosomal dominant disorder characterized by premature fusion of cranial sutures caused by mutations of the Twist gene encoding a basic helix-loop-helix (bHLH) transcription factor. We previously showed that Twist haploinsufficiency caused by a Y103X nonsense mutation in SCS alters both proliferation and osteoblast gene expression in human calvarial osteoblasts, indicating that Twist is an important regulator of osteoblast differentiation. Here we show that Twist haploinsufficiency alters osteoblast apoptosis in SCS. Analysis of terminal deoxynucleotidyl transferase-mediated nick-end labelling (TUNEL) demonstrated increased osteoblast and osteocyte apoptosis in coronal sutures from two SCS patients with nonsense mutations (Y103X and Q109X) that result in the synthesis of bHLH-truncated proteins, and one patient with a missense mutation in the basic domain (R118C) that abolishes Twist DNA binding. To assess the mechanisms involved, we studied osteoblast apoptosis in mutant (M-Tw) calvarial cells bearing the Y103X mutation resulting in decreased Twist mRNA and protein levels. M-Tw cells cultured in low serum conditions showed enhanced DNA fragmentation compared to normal (Nl) age-matched calvarial cells. Biochemical analysis showed increased activity of initiator caspases-2 and -8 and downstream effector caspases-3, -6 and -7 in mutant osteoblasts. Caspase-2 was upstream of caspase-8 and effector caspases-3, -6 and -7 because their activities were suppressed by a specific caspase-2 inhibitor. M-Tw osteoblasts also showed increased cytochrome c release from the mitochondria. However, the activity of the downstream effector caspase-9 was not increased due to overexpression of the antagonist protein Hsp70. Detection of differentially expressed genes using cDNA expression array revealed increased Bax and TNFalpha mRNA levels in M-Tw compared to Nl cells, a finding confirmed by RT-PCR and western blot analyses. Neutralization of

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

    Directory of Open Access Journals (Sweden)

    Dragović Tamara

    2016-01-01

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

  13. [Congenital ectropion of the upper eyelids due to an anomaly of the eyelids in down's syndrome (author's transl)].

    Science.gov (United States)

    Hennighausen, U; Schmidt-Martens, F W; Reim, M

    1978-05-01

    A 5-months-old female baby with Down's Syndrome developed an intermittent spastic ectropion of the upper eyelids. The reasons for this are thought to be the flaccidity of the connective tissue, which is typical in Down's Syndrome, and a little anomaly of the eyelids, the tarsus was too short horizontally and very weak and the upper eyelids were somewhat larger than normal and elongated. Suturing Bangerter's lid-sheets on the upper eyelids for 15 days resulted in a scarring of the tarsus with the lax connective tissue of the upper eyelids. The ectropion disappeared and did not recur.

  14. Hypotension due to Chemotherapy in a Patient with Small Cell Lung Cancer and Lambert-Eaton Myasthenic Syndrome Undergoing Hemodialysis: A First Case Report

    Directory of Open Access Journals (Sweden)

    Taiji Kuwata

    2012-01-01

    Full Text Available We present the first case of small cell lung cancer with Lambert-Eaton myasthenic syndrome during hemodialysis (HD. A 72-year-old male patient receiving HD experienced progressive muscle weakness. He was diagnosed with small cell lung cancer with Lambert-Eaton myasthenic syndrome due to an increased serum level of anti-voltage-gated calcium channel antibody and aspiration cytology on endobronchial ultrasonography for the swelling of a subcarinal lymph node. He received chemotherapy consisting of carboplatin (300 mg/m2 and etoposide (50 mg/m2, to which he had a partial response. However, the second therapy course could not be administered because of the unexpected development of severe hematological adverse events, which also prevented him from undergoing further HD. This case indicates that caution should be taken when using chemotherapy for such patients because of hypotension due to chemotherapy, with which it is impossible to undergo HD.

  15. Abordagem anestésica em paciente pediátrico com síndrome de Leigh

    Directory of Open Access Journals (Sweden)

    Ismail Serhat Kocamanoglu

    2013-04-01

    Full Text Available JUSTIFICATIVA E OBJETIVOS: A síndrome de Leigh (SL é uma doença rara causada por anomalias na produção de energia mitocondrial. O sistema nervoso central é afetado com mais frequência, com retardo psicomotor, convulsões, nistagmo, oftalmoparesia, atrofia óptica, ataxia, distonia ou insuficiência respiratória. Os procedimentos cirúrgicos e anestésicos provocam irritabilidade traqueal e podem exacerbar os riscos de aspiração, sibilação, dificuldade respiratória, respiração ofegante, hipoventilação e apneia. RELATO DE CASO: Apresentamos uma abordagem anestésica usada em um menino de seis anos com a forma grave de SL que envolve reparação de uma fratura de fêmur. Propofol e remifentanil foram infundidos para anestesia geral. O paciente foi atentamente monitorado durante a anestesia e sua permanência na unidade de terapia intensiva no período pós-operatório inicial. CONCLUSÕES: Uma atenta monitoração intraoperatória dos pacientes, que inclui pressão arterial invasiva e mensurações frequentes da gasometria, glicose e lactato, faz esse procedimento transcorrer sem problemas. A terapia intensiva e a assistência respiratória ao paciente com SL sob sedação, com uma combinação de analgésicos durante o período pós-operatório inicial, minimizaram a resposta ao estresse causado pela dor pós-cirúrgica.

  16. Respiratory Failure due to Severe Obesity and Kyphoscoliosis in a 24-Year-Old Male with Molecularly Confirmed Prader-Willi Syndrome in Tertiary Hospital in Northern Tanzania

    Directory of Open Access Journals (Sweden)

    Elichilia R. Shao

    2017-01-01

    Full Text Available Obesity, mild intellectual disability, hypotonia, poor sucking, cryptorchidism in males, hypogonadism, and kyphoscoliosis are common features of Prader-Willi syndrome (PWS. We report a case who had severe respiratory complications due to extreme obesity and kyphoscoliosis, which are important causes of morbidity and mortality, and discuss management. Furthermore, this is the first molecularly confirmed PWS case in Sub-Saharan Africa outside South Africa.

  17. Real-world analysis of the Celgene Global Drug Safety database: early discontinuation of lenalidomide in patients with myelodysplastic syndromes due to non-serious rash

    OpenAIRE

    Weiss L; Gary D; Swern AS; Freeman J.; Sugrue MM

    2015-01-01

    Lilia Weiss,1 Dianna Gary,1 Arlene S Swern,2 John Freeman,1 Mary M Sugrue3 1Global Drug Safety, Celgene Corporation, Summit, 2Biometrics, Celgene Corporation, Berkeley Heights, 3Medical Affairs, Celgene Corporation, Summit, NJ, USA Background: Lenalidomide is approved for treating transfusion-dependent anemia due to lower-risk del(5q) myelodysplastic syndromes (MDS). In clinical trials, rash was common, although severe rash was infrequent. To examine rash in patients with MDS treated with l...

  18. Histological features of the pancreas in a patient with congenital hyperinsulinism due to Beckwith-Wiedemann syndrome

    DEFF Research Database (Denmark)

    Christensen, Lene; Christesen, Henrik Boye Thybo; Brusgaard, Klaus

    Introduction: Beckwith-Wiedemann syndrome (BWS) is a genetic disorder with typical features such as macroglossia, abdominal wall defects, macrosomia, visceromegaly and embryonal tumors. Hypoglycemia is reported in about half of all newborns with BWS, usually resolving spontaneously within the first...

  19. ACTH overexpressing pituitary hyperplasia in a patient with ectopic ACTH-syndrome due to carcinoid of the lung

    Directory of Open Access Journals (Sweden)

    Larisa Konstantinovna Dzeranova

    2015-01-01

    Full Text Available Ectopic ACTH-syndrome is the most diagnostically challenging  variant of endogenous hypercortisolism. Particularly difficult differential diagnosis of this syndrome is from Cushing's disease (CD, as currently there is no single test sufficiently accurate to differentiate accurately ectopic ACTH production from the pituitary. The main functional tests are based on the fact that the vast majority of ectopic ACTH production is autonomous and suppresses one from pituitary. But in some cases this is not observed, and then the data obtained all necessary laboratory and instrumental research evidence in favor of central genesis of CD in a patient with ACTH ectopic secretion, which can lead to inappropriate treatment. If you confirm the ectopic ACTH-syndrome, it may take quite a long time of searching for the pathological focus, as there is no sufficiently precise imaging and diagnostic method for determining the localization of ectopic source of ACTH production. Thus, the differential diagnosis of ACTH-dependent hypercortisolism and localization of the ectopic tumor is the cornerstone of early and radical treatment of patients. We present a difficult clinical case of a patient having a pituitary hyperplasia with excessive ACTH expression with primary ectopic ACTH syndrome caused by lung carcinoid.

  20. TRABAJO SEXUAL Y FEMINISMO, UNA FILIACIÓN BORRADA: TRADUCCIÓN DE "INVENTING SEX WORK" DE CAROL LEIGH (ALIAS SCARLOT HARLOT

    Directory of Open Access Journals (Sweden)

    Santiago Morcillo

    2016-01-01

    Full Text Available En esta introducción a la traducción del texto de Carol Leigh, reponemos brevemente el contexto de los debates feministas presentes en el surgimiento de la idea de trabajo sexual. Además brindamos una clave de lectura que permite comprender la importancia actual de esta traducción en el marco de una fuerte polarización del debate feminista sobre la prostitución y la transnacionalización de la campaña contra la trata de personas.

  1. Review of Shipwreck at Cape Flora: the expeditions of Benjamin Leigh Smith, England’s forgotten Arctic explorer, by P. J. Capelotti

    OpenAIRE

    Barr, Susan

    2013-01-01

    Research for this biography has taken the author from the United States to various parts of the United Kingdom and to Franz Josef Land, as well as drawing on his field experiences from Svalbard. His thoroughness in digging up material has produced a detailed account of the rather amazing life of the British eccentric Benjamin Leigh Smith.(Published: 12 September 2013)Citation: Polar Research 2013, 32, 22576, http://dx.doi.org/10.3402/polar.v32i0.22576

  2. Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism

    Science.gov (United States)

    Koolen, David A; Dupont, Juliette; de Leeuw, Nicole; Vissers, Lisenka ELM; van den Heuvel, Simone PA; Bradbury, Alyson; Steer, James; de Brouwer, Arjan PM; ten Kate, Leo P; Nillesen, Willy M; de Vries, Bert BA; Parker, Michael J

    2012-01-01

    The 17q21.31 microdeletion syndrome is characterised by intellectual disability, epilepsy, distinctive facial dysmorphism, and congenital anomalies. To date, all individuals reported with this syndrome have been simplex patients, resulting from de novo deletions. Here, we report sibling recurrence of the 17q21.31 microdeletion syndrome in two independent families. In both families, the mother was confirmed to be the parent-of-origin for the 17q21.31 deletion. Fluorescence in situ hybridisation analyses in buccal mucosa cells, of the mother of family 1, identified monosomy 17q21.31 in 4/50 nuclei (8%). In mother of family 2, the deletion was identified in 2/60 (3%) metaphase and in 3/100 (3%) interphase nuclei in peripheral lymphocytes, and in 7/100 (7%) interphase nuclei in buccal cells. A common 17q21.31 inversion polymorphism predisposes to non-allelic homologous recombination and hereby to the 17q21.31 microdeletion syndrome. On the basis of the 17q21.31 inversion status of the parents, we calculated that the probability of the second deletion occurring by chance alone was 1/14 438 and 1/4812, respectively. If the inversion status of the parents of a child with the 17q21.31 microdeletion syndrome is unknown, the overall risk of a second child with the 17q21.31 microdeletion is 1/9461. We conclude that the presence of low-level maternal somatic–gonadal mosaicism is associated with the microdeletion recurrence in these families. This suggests that the recurrence risk for parents with a child with a 17q21.31 microdeletion for future pregnancies is higher than by chance alone and testing for mosaicism in the parents might be considered as a helpful tool in the genetic counselling. PMID:22293690

  3. Massive neonatal adrenal enlargement due to cytomegaly, persistence of the transient cortex, and hyperplasia of the permanent cortex: findings in Cushing syndrome associated with hemihypertrophy.

    Science.gov (United States)

    Carney, J Aidan; Ho, Josephine; Kitsuda, Kazuteru; Young, William F; Stratakis, Constantine A

    2012-10-01

    Described in this article is the massive enlargement of both adrenal glands in 3 newborns-2 girls and 1 boy. Two had hemihypertrophy and other congenital abnormalities but no identified genetic mutation; the third had genetically proven Beckwith-Wiedemann syndrome. Two had severe Cushing syndrome, the third had hypercortisolemia but no clinical Cushing syndrome. Bilateral adrenalectomy cured Cushing syndrome in the 2 with severe symptoms; total adrenal weight in these patients was 44 and 53 g, respectively. Unilateral adrenalectomy was performed in the third patient: the gland weighed 52 g; postoperatively, the patient's hypercortisolemia normalized, and, concomitantly, the enlarged contralateral adrenal gland had a 5-fold decrease in size with slight enlargement 6 years postoperatively. Microscopically, the 3 patients had similar pathology: massive adrenal enlargement due to a combination of cytomegaly, persistence of the transient cortex, and hyperplasia of the permanent cortex. The pathologic findings were most likely the result of the genetic mutation identified in 1 patient and of an unknown mutation in the remaining 2 patients.

  4. A novel fibrillin-1 mutation in an egyptian marfan family: A proband showing nephrotic syndrome due to focal segmental glomerulosclerosis

    Directory of Open Access Journals (Sweden)

    Mohammad Al-Haggar

    2017-01-01

    Full Text Available Marfan syndrome (MFS, the founding member of connective tissue disorder, is an autosomal dominant disease; it is caused by a deficiency of the microfibrillar protein fibrillin-1 ( FBN1 and characterized by involvement of three main systems; skeletal, ocular, and cardiovascular. More than one thousand mutations in FBN1 gene on chromosome 15 were found to cause MFS. Nephrotic syndrome (NS had been described in very few patients with MFS being attributed to membranoproliferative glomerulonephritis secondary to infective endocarditis. Focal segmental glomerulosclerosis (FSGS had been reported in NS in conjunction with MFS without confirming the diagnosis by mutational analysis of FBN1. We hereby present an Egyptian family with MFS documented at the molecular level; it showed a male proband with NS secondary to FSGS, unfortunately, we failed to make any causal link between FBN dysfunction and FSGS. In this context, we review the spectrum of renal involvements occurring in MFS patients.

  5. Telomeres in ICF syndrome cells are vulnerable to DNA damage due to elevated DNA:RNA hybrids

    Science.gov (United States)

    Sagie, Shira; Toubiana, Shir; Hartono, Stella R.; Katzir, Hagar; Tzur-Gilat, Aya; Havazelet, Shany; Francastel, Claire; Velasco, Guillaume; Chédin, Frédéric; Selig, Sara

    2017-01-01

    DNA:RNA hybrids, nucleic acid structures with diverse physiological functions, can disrupt genome integrity when dysregulated. Human telomeres were shown to form hybrids with the lncRNA TERRA, yet the formation and distribution of these hybrids among telomeres, their regulation and their cellular effects remain elusive. Here we predict and confirm in several human cell types that DNA:RNA hybrids form at many subtelomeric and telomeric regions. We demonstrate that ICF syndrome cells, which exhibit short telomeres and elevated TERRA levels, are enriched for hybrids at telomeric regions throughout the cell cycle. Telomeric hybrids are associated with high levels of DNA damage at chromosome ends in ICF cells, which are significantly reduced with overexpression of RNase H1. Our findings suggest that abnormally high TERRA levels in ICF syndrome lead to accumulation of telomeric hybrids that, in turn, can result in telomeric dysfunction. PMID:28117327

  6. Aberrant muscle syndrome: hypertrophy of the hand and arm due to aberrant muscles with or without hypertrophy of the muscles.

    Science.gov (United States)

    Ogino, Toshihiko; Satake, Hiroshi; Takahara, Masatoshi; Kikuchi, Noriaki; Watanabe, Tadayosi; Iba, Kousuke; Ishii, Seiichi

    2010-06-01

    Five patients were reported in our congenital anomaly registry who had six hands in total with muscular hyperplasia, aberrant muscles, ulnar drift of the fingers in the metacarpophalangeal (MP) joints, flexion contractures of the MP joints, and enlargement of the metacarpal spaces. Thirty patients with unilateral involvement of this condition have been reported previously. We reviewed these cases and found that the condition varied in severity and that it was reported using different names. However, this condition seems different from true macrodactyly and multiple camptodactyly, including windblown hand, and seems to be an isolated entity of congenital upper limb anomaly. The authors recommend 'aberrant muscle syndrome' or 'accessory muscle syndrome' as a diagnostic name, because this seems to be the most common pathological finding in this condition.

  7. Repeated renal infarction in native and transplanted kidneys due to left ventricular thrombus formation caused by antiphospholipid antibody syndrome.

    Science.gov (United States)

    Scully, Paul; Leckstroem, Daniel C; McGrath, Andrew; Chambers, John; Goldsmith, David J

    2013-01-01

    Antiphospholipid syndrome can be a feature of several underlying conditions, such as lupus, but it can also occur idiopathically. Diagnosis usually comes after investigation of recurrent venous or arterial thromboses, emboli, or hypertension/proteinuria where the kidney is involved and is usually confirmed by laboratory testing. We describe a case of a man with a myocardial infarction who developed mural thrombus in an akinetic left ventricular segment but then who recurrently embolized first to one of his native kidneys and then later to a transplanted kidney. Although the clinical behavior was typical of antiphospholipid syndrome, it took numerous laboratory assays over many years until finally the problem was confirmed and life-long warfarin therapy instituted.

  8. Thyroid carcinoma and primary amenorrhea due to Mayer-Rokitansky-Küster-Hauser syndrome: a case report

    OpenAIRE

    Piciu Doina; Piciu Andra; Irimie Alexandru

    2012-01-01

    Abstract Introduction This case report describes an association between an exceptionally rare congenital anomaly and differentiated thyroid carcinoma. Mayer-Rokitansky-Küster-Hauser syndrome is characterized by vaginal aplasia associated with other Müllerian duct abnormalities. Its penetrance varies, as does the involvement of other organs. The association with thyroid carcinoma appears to be exceptionally rare, and warrants further attention. Case presentation We present the case of a 19-yea...

  9. Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3.

    Science.gov (United States)

    Infante, Elena; Alkorta-Aranburu, Gorka; El-Gharbawy, Areeg

    2017-08-01

    Clinical features are variable in patients with Cornelia de Lange syndrome (CdLS). Milder forms exist with structural maintenance of chromosomes 3 (SMC3) mutations. Inherited milder forms of CdLS are uncommon and may be missed if genetic testing is limited to Nipped-B-like protein (NIPBL) and SMC1A. Parental studies should be pursued if there is a history of learning disabilities and/or dysmorphic features.

  10. Viable Ednra (Y129F) mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation.

    Science.gov (United States)

    Sabrautzki, Sibylle; Sandholzer, Michael A; Lorenz-Depiereux, Bettina; Brommage, Robert; Przemeck, Gerhard; Vargas Panesso, Ingrid L; Vernaleken, Alexandra; Garrett, Lillian; Baron, Katharina; Yildirim, Ali O; Rozman, Jan; Rathkolb, Birgit; Gau, Christine; Hans, Wolfgang; Hoelter, Sabine M; Marschall, Susan; Stoeger, Claudia; Becker, Lore; Fuchs, Helmut; Gailus-Durner, Valerie; Klingenspor, Martin; Klopstock, Thomas; Lengger, Christoph; Stefanie, Leuchtenberger; Wolf, Eckhard; Strom, Tim M; Wurst, Wolfgang; de Angelis, Martin Hrabě

    2016-12-01

    Animal models resembling human mutations are valuable tools to research the features of complex human craniofacial syndromes. This is the first report on a viable dominant mouse model carrying a non-synonymous sequence variation within the endothelin receptor type A gene (Ednra c.386A>T, p.Tyr129Phe) derived by an ENU mutagenesis program. The identical amino acid substitution was reported recently as disease causing in three individuals with the mandibulofacial dysostosis with alopecia (MFDA, OMIM 616367) syndrome. We performed standardized phenotyping of wild-type, heterozygous, and homozygous Ednra (Y129F) mice within the German Mouse Clinic. Mutant mice mimic the craniofacial phenotypes of jaw dysplasia, micrognathia, dysplastic temporomandibular joints, auricular dysmorphism, and missing of the squamosal zygomatic process as described for MFDA-affected individuals. As observed in MFDA-affected individuals, mutant Ednra (Y129F) mice exhibit hearing impairment in line with strong abnormalities of the ossicles and further, reduction of some lung volumetric parameters. In general, heterozygous and homozygous mice demonstrated inter-individual diversity of expression of the craniofacial phenotypes as observed in MFDA patients but without showing any cleft palates, eyelid defects, or alopecia. Mutant Ednra (Y129F) mice represent a valuable viable model for complex human syndromes of the first and second pharyngeal arches and for further studies and analysis of impaired endothelin 1 (EDN1)-endothelin receptor type A (EDNRA) signaling. Above all, Ednra (Y129F) mice model the recently published human MFDA syndrome and may be helpful for further disease understanding and development of therapeutic interventions.

  11. Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene

    Energy Technology Data Exchange (ETDEWEB)

    Parenti, G.; Rizzolo, M.G.; Ghezzi, M. [Federico II University, Naples (Italy)] [and others

    1995-07-03

    We report on the clinical and molecular characterization of 3 sibs with X-linked ichthyosis and variable expression of Kallmann syndrome. One of the affected brothers had mild hyposmia and showed normal pubertal progression. However, we demonstrated the same partial deletion of the X-linked Kallmann gene, sparing the first exon in the mildly affected patient as well as in one of his severely affected brothers. 13 refs., 1 fig., 1 tab.

  12. Protein causes hyperinsulinemia: a Chinese patient with hyperinsulinism/hyperammonaemia syndrome due to a glutamate dehydrogenase gene mutation

    Institute of Scientific and Technical Information of China (English)

    CHEN Shi; XIAO Xin-hua; DIAO Cheng-ming; TONG An-li; WANG Ou; QIU Zheng-qing; YU Kang; WANG Tong

    2010-01-01

    @@ Glucose is derived from three sources: intestinal absorption, glycogenolysis, and gluconeogenesis. Hypoglycemia in child is often attributed to depletion of glycogen stores. However, recently, congenital hyperinsulinism becomes an important cause of hypoglycaemia in early infancy. Mutations in the genes encoding SUR1 and KIR6.2 are the most frequent genetic causes of hyperinsulinism followed by mutations in the glutamate dehydrogenase (GDH) gene which encodes hyperinsulinism/hyperammonaemia (HI/HA) syndrome.

  13. Comparing effects of Beractant and Poractant alfa in decreasing mortality rate due to respiratory distress syndrome in premature infants

    Directory of Open Access Journals (Sweden)

    Saeidi R

    2011-02-01

    Full Text Available "nBackground: Exogenous natural and synthetic surfactants is a rescue treatment for respiratory distress syndrome (RDS. The goals of the study were to compare the clinical response and side-effects of two frequently used surfactants, poractant alfa (Curosurf and beractant (Survanta, for the treatment of respiratory distress syndrome in preterm infants."n "nMethods: This clinical trial study was performed during a two-year period in the Neonatal Intensive Care Unit of Ghaem Hospital in Mashhad, Iran. Sample size calculated by a 95% confidence and power of 80, included 104 premature neonates, 74 in survanta and 30 in curosurf groups. The level of statistical significance was considered to be < 0.05."n "nResults: There were no statistically significant differences between the infants treated by survanta or cursurf groups regarding their mean gestational age (30.58 Vs. 29.00 weeks and birth weight (1388 Vs. 1330 g, (p=0.3 There were also no significant differences between the two groups regarding incidences of broncho- pulmonary dysplasia (BPD (40.5% Vs. 40%, intraventricular hemorrhage (IVH grades III/IV (13.5% Vs. 13.3%, pneumothorax (both 20%, patent ductus arteriosus (PDA (28/3% Vs. 20% or death (28% Vs. 26.6% on the 28th day postpartum."n "nConclusion: This study showed that survanta and curosurf had similar therapeutic effects in the treatment of neonatal respiratory distress syndrome.

  14. Recurrent Cholangitis by Biliary Stasis Due to Non-Obstructive Afferent Loop Syndrome After Pylorus-Preserving Pancreatoduodenectomy: Report of a Case

    Science.gov (United States)

    Sanada, Yukihiro; Yamada, Naoya; Taguchi, Masanobu; Morishima, Kazue; Kasahara, Naoya; Kaneda, Yuji; Miki, Atsushi; Ishiguro, Yasunao; Kurogochi, Akira; Endo, Kazuhiro; Koizumi, Masaru; Sasanuma, Hideki; Fujiwara, Takehito; Sakuma, Yasunaru; Shimizu, Atsushi; Hyodo, Masanobu; Sata, Naohiro; Yasuda, Yoshikazu

    2014-01-01

    We report a 71-year-old man who had undergone pylorus-preserving pancreatoduodenectomy (PPPD) using PPPD-IV reconstruction for cholangiocarcinoma. For 6 years thereafter, he had suffered recurrent cholangitis, and also a right liver abscess (S5/8), which required percutaneous drainage at 9 years after PPPD. At 16 years after PPPD, he had been admitted to the other hospital because of acute purulent cholangitis. Although medical treatment resolved the cholangitis, the patient was referred to our hospital because of dilatation of the intrahepatic biliary duct (B2). Peroral double-balloon enteroscopy revealed that the diameter of the hepaticojejunostomy anastomosis was 12 mm, and cholangiography detected intrahepatic stones. Lithotripsy was performed using a basket catheter. At 1 year after lithotripsy procedure, the patient is doing well. Hepatobiliary scintigraphy at 60 minutes after intravenous injection demonstrated that deposit of the tracer still remained in the upper afferent loop jejunum. Therefore, we considered that the recurrent cholangitis, liver abscess, and intrahepatic lithiasis have been caused by biliary stasis due to nonobstructive afferent loop syndrome. Biliary retention due to nonobstructive afferent loop syndrome may cause recurrent cholangitis or liver abscess after hepaticojejunostomy, and double-balloon enteroscopy and hepatobiliary scintigraphy are useful for the diagnosis of nonobstructive afferent loop syndrome. PMID:25058778

  15. A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation.

    Science.gov (United States)

    Castori, Marco; Bottillo, Irene; D'Angelantonio, Daniela; Morlino, Silvia; De Bernardo, Carmelilia; Scassellati Sforzolini, Giovanna; Silvestri, Evelina; Grammatico, Paola

    2014-08-01

    Nager syndrome, or acrofacial dysostosis type 1 (AFD1), is a rare multiple malformation syndrome characterized by hypoplasia of first and second branchial arches derivatives and appendicular anomalies with variable involvement of the radial/axial ray. In 2012, AFD1 has been associated with dominant mutations in SF3B4. We report a 22-week-old fetus with AFD1 associated with diaphragmatic hernia due to a previously unreported SF3B4 mutation (c.35-2A>G). Defective diaphragmatic development is a rare manifestation in AFD1 as it is described in only 2 previous cases, with molecular confirmation in 1 of them. Our molecular finding adds a novel pathogenic splicing variant to the SF3B4 mutational spectrum and contributes to defining its prenatal/fetal phenotype.

  16. Dental phenotype in Jalili syndrome due to a c.1312 dupC homozygous mutation in the CNNM4 gene.

    Directory of Open Access Journals (Sweden)

    Hans U Luder

    Full Text Available Jalili syndrome denotes a recessively inherited combination of an eye disease (cone-rod dystrophy and a dental disorder (amelogenesis imperfecta, which is caused by mutations in the CNNM4 gene. Whereas the ophthalmic consequences of these mutations have been studied comprehensively, the dental phenotype has obtained less attention. A defective transport of magnesium ions by the photoreceptors of the retina is assumed to account for the progressive visual impairment. Since magnesium is also incorporated in the mineral of dental hard tissues, we hypothesized that magnesium concentrations in defective enamel resulting from mutations in CNNM4 would be abnormal, if a similar deficiency of magnesium transport also accounted for the amelogenesis imperfecta. Thus, a detailed analysis of the dental hard tissues was performed in two boys of Kosovan origin affected by Jalili syndrome. Retinal dystrophy of the patients was diagnosed by a comprehensive eye examination and full-field electroretinography. A mutational analysis revealed a c.1312 dupC homozygous mutation in CNNM4, a genetic defect which had already been identified in other Kosovan families and putatively results in loss-of-function of the protein. The evaluation of six primary teeth using light and scanning electron microscopy as well as energy-dispersive X-ray spectroscopy showed that dental enamel was thin and deficient in mineral, suggesting a hypoplastic/hypomineralized type of amelogenesis imperfecta. The reduced mineral density of enamel was accompanied by decreased amounts of calcium, but significantly elevated levels of magnesium. In dentin, however, a similar mineral deficiency was associated with reduced magnesium and normal calcium levels. It is concluded that the c.1312 dupC mutation of CNNM4 results in mineralization defects of both enamel and dentin, which are associated with significantly abnormal magnesium concentrations. Thus, we could not disprove the hypothesis that a

  17. A case of psychosis due to Fahr's syndrome and response to behavioral disturbances with risperidone and oxcarbazepine

    Science.gov (United States)

    Faye, Abhijeet Dhawalram; Gawande, Sushil; Tadke, Rahul; Kirpekar, Vivek C.; Bhave, Sudhir H.

    2014-01-01

    Calcification of basal ganglia or Fahr's syndrome is a rare disease characterized by bilateral and symmetrical intracranial deposition of calcium mainly in cerebral basal ganglia. Motor and neuropsychiatric symptoms are prominent features. We report a case presented with a few motor symptoms, features of delirium and prominent psychiatric symptoms (disorganized behavior) predominantly evident after the improvement in delirium. Radiological findings were suggestive of bilateral basal ganglia calcification. Parathyroid hormone levels were low with no significant findings in other investigations and negative family history. Patient showed significant improvement in behavioral disturbances with risperidone, low dose of lorazepam, oxcarbazepine, and memantine. PMID:24891710

  18. Steven′s Johnson syndrome with toxic epidermal necrolysis due to thalidomide in a case of multiple myeloma

    Directory of Open Access Journals (Sweden)

    Anupam Das

    2014-01-01

    Full Text Available Thalidomide developed in 1954 for morning sickness had proven to be a teratogen and hence was withdrawn from market. Resurgence of thalidomide began as an immunomodulator when it was shown to be effective in the management of multiple myeloma and many conditions like erythema nodosum leprosum, graft versus host disease, recurrent aphthous ulcers etc. We report a case of Stevens Johnson syndrome-toxic epidermal necrolysis developing in an elderly male who was prescribed thalidomide after being diagnosed with multiple myeloma.

  19. Hypopituitarism in a patient with Beckwith-Wiedemann syndrome due to hypomethylation of KvDMR1.

    Science.gov (United States)

    Baiocchi, Michela; Yousuf, Fatimah Sireen; Hussain, Khalid

    2014-04-01

    Beckwith-Wiedemann syndrome (BWS) is caused by dysregulation of imprinted genes on chromosome 11.p15.5. The syndrome includes overgrowth, macroglossia, organomegaly, abdominal wall defects, hypoglycemia, and long-term malignancy risk. No patient who has BWS has been reported with hypopituitarism. We describe a patient who presented at birth with macrosomia, macroglossia, respiratory distress, jaundice, and hypoglycemia, and who was followed for 4.5 years. Genetic test for BWS was performed, which detected loss of maternal methylation on region KvDMR1 (11p15.5). The hypoglycemia was attributable to hyperinsulinism and was treated with diazoxide and chlorothiazide. She responded well, but the hypoglycemia returned after reducing the diazoxide. It was possible to stop the diazoxide after 2.5 years. On routine follow-up she was noted to be developing short stature. Baseline pituitary and growth hormone (GH) stimulation tests detected GH deficiency and secondary hypothyroidism. A brain MRI showed a small anterior pituitary gland. Thereafter, thyroxine and replacement therapy with GH were started, which resulted in a remarkable improvement in growth velocity. This is the first patient to be reported as having hypopituitarism and BWS. It is unclear if the BWS and the hypopituitarism are somehow connected; however, further investigations are necessary. Hypopituitarism explains the protracted hypoglycemia and the short stature. In our patient, GH therapy seems to be safe, but strict follow-up is required given the increased cancer risk related to BWS.

  20. Diagnosis of familial Wolf-Hirschhorn syndrome due to a paternal cryptic chromosomal rearrangement by conventional and molecular cytogenetic techniques.

    Science.gov (United States)

    Venegas-Vega, Carlos A; Fernández-Ramírez, Fernando; Zepeda, Luis M; Nieto-Martínez, Karem; Gómez-Laguna, Laura; Garduño-Zarazúa, Luz M; Berumen, Jaime; Kofman, Susana; Cervantes, Alicia

    2013-01-01

    The use of conventional cytogenetic techniques in combination with fluorescent in situ hybridization (FISH) and single-nucleotide polymorphism (SNP) microarrays is necessary for the identification of cryptic rearrangements in the diagnosis of chromosomal syndromes. We report two siblings, a boy of 9 years and 9 months of age and his 7-years- and 5-month-old sister, with the classic Wolf-Hirschhorn syndrome (WHS) phenotype. Using high-resolution GTG- and NOR-banding karyotypes, as well as FISH analysis, we characterized a pure 4p deletion in both sibs and a balanced rearrangement in their father, consisting in an insertion of 4p material within a nucleolar organizing region of chromosome 15. Copy number variant (CNV) analysis using SNP arrays showed that both siblings have a similar size of 4p deletion (~6.5 Mb). Our results strongly support the need for conventional cytogenetic and FISH analysis, as well as high-density microarray mapping for the optimal characterization of the genetic imbalance in patients with WHS; parents must always be studied for recognizing cryptic balanced chromosomal rearrangements for an adequate genetic counseling.

  1. Diagnosis of Familial Wolf-Hirschhorn Syndrome due to a Paternal Cryptic Chromosomal Rearrangement by Conventional and Molecular Cytogenetic Techniques

    Directory of Open Access Journals (Sweden)

    Carlos A. Venegas-Vega

    2013-01-01

    Full Text Available The use of conventional cytogenetic techniques in combination with fluorescent in situ hybridization (FISH and single-nucleotide polymorphism (SNP microarrays is necessary for the identification of cryptic rearrangements in the diagnosis of chromosomal syndromes. We report two siblings, a boy of 9 years and 9 months of age and his 7-years- and 5-month-old sister, with the classic Wolf-Hirschhorn syndrome (WHS phenotype. Using high-resolution GTG- and NOR-banding karyotypes, as well as FISH analysis, we characterized a pure 4p deletion in both sibs and a balanced rearrangement in their father, consisting in an insertion of 4p material within a nucleolar organizing region of chromosome 15. Copy number variant (CNV analysis using SNP arrays showed that both siblings have a similar size of 4p deletion (~6.5 Mb. Our results strongly support the need for conventional cytogenetic and FISH analysis, as well as high-density microarray mapping for the optimal characterization of the genetic imbalance in patients with WHS; parents must always be studied for recognizing cryptic balanced chromosomal rearrangements for an adequate genetic counseling.

  2. Digital flexion contracture and severe carpal tunnel syndrome due to tophaceus infiltration of wrist flexor tendon: first manifestation of gout.

    Science.gov (United States)

    Hernández-Cortés, P; Caba, M; Gómez-Sánchez, R; Gómez-Morales, M

    2011-11-09

    The authors report an unusual case of flexor tenosynovitis, severe carpal tunnel syndrome, and triggering at the carpal tunnel as the first manifestation of gout. A 69-year-old man presented with digital flexion contracture and severe carpal tunnel syndrome of his right hand and was treated surgically. A flexor tenosynovectomy and a median nerve neurolysis were performed through an extended carpal tunnel approach. The sublimis and the profundus tendons were involved. Partial ruptures and multiple whitish lesions suggestive of tophacceous infiltration of the flexor tendons were seen. Macroscopically, the removed synovial tissue was involved by multiple whitish nodules that were milimetric in size and was suggestive of monosodium urate crystals deposits. By light microscopy examination, numerous nonnecrotizing granulomas of different sizes were observed that were compounded by large aggregations of acellular nonpolarized material, surrounded by epithelioid histiocytes, mononuclear cells, and foreign body multinucleated giant cells. Postoperatively, the patient recovered with resolution of the median nerve symptoms and a near-to-full range of motion of the affected digits.To the authors' knowledge, this patient is the first case report with flexor tendons tophacceous infiltration as the first clinical sign of gout. Gouty flexor tenosynovitis can occur in the absence of a long history of gout. A high index of suspicion is paramount to the initiation of proper management. Operative treatment of gouty flexor tenosynovitis is mandatory to debulk tophaceous deposits, improve tendon gliding, and decompress nerves. Routine uric acid determination could be helpful in the preoperative evaluation of patients with flexor tenosynovitis.

  3. Carpal tunnel syndrome due to an atypical deep soft tissue leiomyoma: The risk of misdiagnosis and mismanagement

    Directory of Open Access Journals (Sweden)

    Dimitriou Christos G

    2007-08-01

    Full Text Available Abstract Background Leiomyomas of the deep soft tissue are quite uncommon and occur even more rarely in upper extremity. Case presentation A 32-year old manual laborer man presented with a two-year history of numbness, tingling and burning pain in the palmar surface of the left hand and fingers. His medical history was unremarkable and no trauma episode was reported. According to the clinical examination and the result of median nerve conduction study (NCS the diagnosis of carpal tunnel syndrome was established. Operative release of the transverse carpal ligament was subsequently performed but the patient experienced only temporary relief of his symptoms. MRI examination revealed a deep palmary located mass with well-defined margins and ovoid shape. Intraoperatively, the tumor was in continuity with the flexor digitorum superficialis tendon of the middle finger causing substantial compression to median nerve. Histopathological findings of the resected mass were consistent with leiomyoma. After two years the patient was pain-free without signs of tumor recurrence. Conclusion Despite the fact that reports on deep soft tissue leiomyoma are exceptional, this tumor had to be considered as differential diagnosis in painful non-traumatic hand syndromes especially in young patients.

  4. Successful Salvage of a Renal Allograft after Acute Renal Vein Thrombosis due to May-Thurner Syndrome

    Directory of Open Access Journals (Sweden)

    Omkar U. Vaidya

    2012-01-01

    Full Text Available A 68-year-old Caucasian female with a past medical history of a deceased donor kidney transplant four months prior was admitted with a two-day history of anuria and acute kidney injury. A renal ultrasound demonstrated thrombus in the transplanted kidney's renal vein that extended into the left iliac vein as well as into the left femoral venous system. Catheter-guided tissue thrombolytics were infused directly into the clot. Within twelve hours of initiating thrombolytic infusion, there was brisk urine output. Interval venography demonstrated decreasing clot burden. At the time of discharge her creatinine was 0.78 mg/dL, similar to her baseline value prior to presentation. The patient was noted to have May-Thurner syndrome on intravascular ultrasound (IVUS. Angioplasty followed by stent placement was done. Unique to our case report was the timing of the presentation of renal vein thrombosis (four months after transplant and the predisposing anatomy consistent with May-Thurner syndrome, which was diagnosed with IVUS and successfully treated with local thrombolytics.

  5. Repeated renal infarction in native and transplanted kidneys due to left ventricular thrombus formation caused by antiphospholipid antibody syndrome

    Directory of Open Access Journals (Sweden)

    Scully P

    2013-01-01

    Full Text Available Paul Scully,1 Daniel C Leckstroem,1 Andrew McGrath,2 John Chambers,3 David J Goldsmith11Nephrology Department, 2Radiology Department, 3Cardiology Department, King's Health Partners, Academic Health Sciences Centre, London, United KingdomAbstract: Antiphospholipid syndrome can be a feature of several underlying conditions, such as lupus, but it can also occur idiopathically. Diagnosis usually comes after investigation of recurrent venous or arterial thromboses, emboli, or hypertension/proteinuria where the kidney is involved and is usually confirmed by laboratory testing. We describe a case of a man with a myocardial infarction who developed mural thrombus in an akinetic left ventricular segment but then who recurrently embolized first to one of his native kidneys and then later to a transplanted kidney. Although the clinical behavior was typical of antiphospholipid syndrome, it took numerous laboratory assays over many years until finally the problem was confirmed and life-long warfarin therapy instituted.Keywords: antiphospholipid therapy, emboli, infarction, kidney, kidney transplant

  6. Apert Syndrome.

    Science.gov (United States)

    Datta, Saikat; Saha, Sandip; Kar, Arnab; Mondal, Souvonik; Basu, Syamantak

    2014-09-01

    Apert syndrome is one of the craniosynostosis syndromes which, due to its association with other skeletal anomalies, is also known as acrocephalosyndactyly. It is a rare congenital anomaly which stands out from other craniosynostosis due to its characteristic skeletal presentations.

  7. Peripartum cardiomyopathy presenting with syncope due to Torsades de pointes: a case of long QT syndrome with a novel KCNH2 mutation.

    Science.gov (United States)

    Nishimoto, Orie; Matsuda, Morihiro; Nakamoto, Kei; Nishiyama, Hirohiko; Kuraoka, Kazuya; Taniyama, Kiyomi; Tamura, Ritsu; Shimizu, Wataru; Kawamoto, Toshiharu

    2012-01-01

    Peripartum cardiomyopathy (PPCM) is a cardiomyopathy of unknown cause that occurs in the peripartum period. We report a case of PPCM presenting with syncope 1 month after an uncomplicated delivery. Electrocardiography showed Torsades de pointes (TdP) and QT interval prolongation. Echocardiography showed left ventricular systolic dysfunction and endomyocardial biopsy showed myocyte degeneration and fibrosis. Administration of magnesium sulfate and temporary pacing eliminated recurrent TdP. Genetic analyses revealed that recurrent TdP occurred via electrolyte disturbance and cardiac failure due to PPCM on the basis of a novel mutation in KCNH2, a gene responsible for inherited type 2 long QT syndrome.

  8. Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism.

    Science.gov (United States)

    Gigante, Laura; Paganini, Irene; Frontali, Marina; Ciabattoni, Serena; Sangiuolo, Federica Carla; Papi, Laura

    2016-01-01

    Rhabdoid tumors are aggressive malignancies that show loss-of-function mutations of SMARCB1 gene, a member of the SWI/SNF chromatin-remodeling complex controlling gene transcription. One-third of patients affected by rhabdoid tumor harbor a germ-line mutation of SMARCB1 defining a rhabdoid tumor predisposition syndrome. The occurrence of a second somatic mutation determines the development of neoplasia in a two-hit model. Most germ-line mutations occur de novo, and few cases of recurrence in a sibship have been described. Here we report on a new Italian family with recurrence of SMARCB1 germ-line deletion in two siblings due to gonadal mosaicism. The deletion was identified in the 9-month-old proband with malignant rhabdoid tumor of the right kidney and disseminated metastases. Testing of both parents confirmed the de novo origin of the mutation, but recurrence was then detected prenatally in a new pregnancy. This is the sixth family with malignant rhabdoid tumor predisposition syndrome with the recurrence of the same germ-line SMARCB1 mutation in the sibship but not in healthy parents, suggesting that gonadal mosaicism is a less rare event than supposed. The clinical outcome in our patient confirms previous data of poorer outcome in patients with rhabdoid tumor predisposition syndrome.

  9. A comparative study of verbal IQ, performance IQ and verbal IQ-performance IQ disparity among Turner syndrome patients and patients with primary amenorrhoea due to other aetiologies

    Directory of Open Access Journals (Sweden)

    Rahul Lakshman

    2012-12-01

    Full Text Available Background: Assessing disparity in IQ is important in selecting an occupation and thus helping people lead a productive life. In Turner syndrome patients, this shall be more important as assessment of verbal IQ- and performance IQ disparity could be used in helping them select an occupation so that productivity and quality of life is not grossly compromised. Methods: Based on karyotyping, 30 patients with turner syndrome and 30 patients with primary amenorrhoea due to other aetiologies were selected for the study. Cytogenetic analysis was done for every case using G-banding technique. Assessment of intellectual functions was done using Wechsler Adult Intelligence Scale (WAIS. Results: Mean value of PIQ of X0 (turner was 74.67 and that of XX (other amenorrhoea patients was 90.30. Mean value of VIQ of X0 (turner was 93.67 and that of XX (other amenorrhoea patients was 93.60. Mean value of VIQ and PIQ disparity of X0 (turner was 18.67 and that of XX (other amenorrhoea patients was 3. Conclusions: Turner syndrome patients have high VIQ-PIQ disparity when compared to other primary amenorrhoea patients. [Int J Reprod Contracept Obstet Gynecol 2012; 1(1.000: 22-25

  10. Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p.

    Science.gov (United States)

    Gurrieri, Fiorella; Zollino, Marcella; Oliva, Antonio; Pascali, Vincenzo; Orteschi, Daniela; Pietrobono, Roberta; Camporeale, Antonella; Coll Vidal, Monica; Partemi, Sara; Brugada, Ramon; Bellocci, Fulvio; Neri, Giovanni

    2013-09-01

    We report on a young woman admitted to our Cardiology Unit because of an episode of cardiac arrest related to a long-QT syndrome (LQTS). This manifestation was part of a broader phenotype, which was recognized as a mild form of Beckwith-Wiedemann syndrome (BWS). Molecular analysis confirmed the diagnosis of BWS owing to a maternally inherited deletion of the centromeric imprinting center, or ICR2, an extremely rare genetic mechanism in BWS. The deletion interval (198 kb) also included exons 11-16 of the KCNQ1 gene, known to be responsible for LQTS at locus LQT1. No concomitant mutations were found in any other of the known LQT genes. The proposita's mother carries the same deletion in her paternal chromosome and shows manifestations of the Silver-Russell syndrome (SRS). This report describes the smallest BWS-causing ICR2 deletion and provides the first evidence that a paternal deletion of ICR2 leads to a SRS-like phenotype. In addition, our observation strongly suggests that in cases of LQTS due to mutation of the KCNQ1 gene (LQT1), an accurate clinical genetic evaluation should be done in order to program the most appropriate genetic tests.

  11. Persistent congenital hyperinsulinism in two patients with Beckwith-Wiedemann syndrome due to mosaic uniparental disomy 11p.

    Science.gov (United States)

    Zarate, Yuri A; Shur, Natasha; Robin, Andrew; Garnica, Adolfo D; Quintos, Jose Bernardo; Schaefer, G Bradley

    2014-09-01

    Congenital hyperinsulinism (CHI) is a rare metabolic disease characterized by inappropriate insulin secretion in the presence of hypoglycemia. We describe the clinical presentation and management of congenital hyperinsulinism and persistent hypoglycemia in two infants. Both patients had an initial clinical diagnosis of Beckwith-Wiedemann syndrome (BWS) but normal methylation analysis for LIT1 and H19 status. Both patients were eventually found to have mosaic uniparental disomy 11p diagnosed by single nucleotide polymorphism (SNP) array in DNA isolated from lymphoblasts and fibroblasts, respectively. We report that patients with mosaic BWS are at increased risk for both transient and refractory hypoglycemia that may need aggressive management with diazoxide, octreotide, high glucose infusion rates, and a frequent feeding regime. Our patient experience supports the case for pursuing further testing in patients with features of BWS with normal methylation studies, karyotype, and SNP arrays on blood. The next logical step is SNP array on skin biopsy to rule out mosaicism.

  12. Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome

    DEFF Research Database (Denmark)

    Cordeiro, Jonathan M; Marieb, Mark; Pfeiffer, Ryan

    2009-01-01

    Recent studies have demonstrated an association between mutations in CACNA1c or CACNB2b and Brugada syndrome (BrS). Previously described mutations all caused a loss of function secondary to a reduction of peak calcium current (I(Ca)). We describe a novel CACNB2b mutation associated with Br...... revealed brief episodes of very rapid ventricular tachycardia. He was also diagnosed with vasovagal syncope. Genomic DNA was isolated from lymphocytes. All exons and intron borders of 15 ion channel genes were amplified and sequenced. The only mutation uncovered was a missense mutation (T11I) in CACNB2b...... that the faster current decay results in a loss-of-function responsible for the Brugada phenotype...

  13. Pleural empyema and streptococcal toxic shock syndrome due to Streptococcus pyogenes in a healthy Spanish traveler in Japan

    Directory of Open Access Journals (Sweden)

    Tetsuya Sakai

    2017-01-01

    Full Text Available Group A Streptococcus (GAS, Streptococcus pyogenes causes invasive infections including streptococcal toxic shock syndrome (STSS and local infections. To our knowledge, this is the first report of a case of an invasive GAS infection with pneumonia and pleural empyema (PE followed by STSS (disseminated intravascular coagulation [DIC] and acute renal insufficiency in a healthy male adult. He received combined supportive therapies of PE drainage, anti-DIC agent, hemodialysis, and antimicrobials and eventually made a clinical recovery. GAS isolated from PE was found to have emm1/speA genes, suggestive of a pathogenic strain. Clinicians should be aware of the possibility of this disease entity (pneumonia, PE, and STSS in healthy male adults as well as children and adult women.

  14. Pleural empyema and streptococcal toxic shock syndrome due to Streptococcus pyogenes in a healthy Spanish traveler in Japan.

    Science.gov (United States)

    Sakai, Tetsuya; Taniyama, Daisuke; Takahashi, Saeko; Nakamura, Morio; Takahashi, Takashi

    2017-01-01

    Group A Streptococcus (GAS, Streptococcus pyogenes) causes invasive infections including streptococcal toxic shock syndrome (STSS) and local infections. To our knowledge, this is the first report of a case of an invasive GAS infection with pneumonia and pleural empyema (PE) followed by STSS (disseminated intravascular coagulation [DIC] and acute renal insufficiency) in a healthy male adult. He received combined supportive therapies of PE drainage, anti-DIC agent, hemodialysis, and antimicrobials and eventually made a clinical recovery. GAS isolated from PE was found to have emm1/speA genes, suggestive of a pathogenic strain. Clinicians should be aware of the possibility of this disease entity (pneumonia, PE, and STSS) in healthy male adults as well as children and adult women.

  15. Dravet syndrome with favourable cognitive and behavioral development due to a novel SCN1A frameshift mutation.

    Science.gov (United States)

    Jiang, Peifang; Shen, Jue; Yu, Yonglin; Jiang, Lihua; Xu, Jialu; Xu, Lu; Yu, Huimin; Gao, Feng

    2016-07-01

    Children with Dravet syndrome (DS) often have severe cognitive, behaviour and motor impairments. Patients with truncating mutations would logically have the more severe phenotype. Here we present a case of DS with an unusually favourable cognitive and behavioral development with a novel SCN1A frameshift mutation (c.4233-4234insAT). Under regular following up for ten years, the patient had normal expressive language and mild motor clumsiness. It is suggested that besides the type of SCN1A mutation, other mechanisms may be existed to influence the SCN1A phenotype, such as modifier genes, developmental variability, accumulation of somatic mutation in lifetime and environmental insults can all contribute to the cognitive and behavioral outcome.

  16. Orthopedic symptoms in pustular bacterid (pustulosis palmaris et plantaris): Tietze's syndrome and arthritis of manubriosternal joint due to focal infection.

    Science.gov (United States)

    Ishibashi, A; Nishiyama, Y; Endo, M; Kawaji, W; Kato, T

    1977-04-01

    Painful orthopedic symptoms in the sternal area, such as arthritis of the manubriosternal and sternoclavicular joint or Tietze's syndrome, were found in 14 of 132 cases of pustulosis palmaris et plantaris. The majority of the pustulosis palmaris et plantaris patients with orthopedic symptoms had skin eruptions not only on the palms and soles, but also on the backs of the hands and feet, the arms, the legs and the trunk. Such cases were usually accompanied by elevation of the erythrocyte sedimentation rate, leucocytosis, changes in serum globulin, and also pyrexia at the time of exacerbation. The skin and orthopedic symptoms often worsened after acute exacerbation of the focal infection, and occasionally responded to tonsillectomy or chemotherapy with antibiotics, which is suggestive of the probable cause of the bacterid.

  17. Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A.

    Science.gov (United States)

    Stellacci, Emilia; Onesimo, Roberta; Bruselles, Alessandro; Pizzi, Simone; Battaglia, Domenica; Leoni, Chiara; Zampino, Giuseppe; Tartaglia, Marco

    2016-09-01

    Wiedemann-Steiner Syndrome (WSS) is an autosomal dominant disorder characterized by hypertrichosis, short stature, intellectual disability, developmental delay, and facial dysmorphism. Since the original reports by Wiedemann and co-workers, and Steiner and Marques, only a few cases have been described. Recently, the clinical variability of the disorder has more precisely been characterized by Jones and co-workers, who also identified heterozygous KMT2A mutations as the molecular defect underlying this condition. Here, we report on a boy with a complex phenotype overlapping WSS but exhibiting epilepsy, feeding difficulties, microcephaly, and congenital immunodeficiency with low levels of immunoglobulins as additional features. Whole exome sequencing allowed identifying a previously unreported de novo KMT2A missense mutation affecting the DNA binding domain of the methyltransferase. This finding expands the clinical phenotype associated with KMT2A mutations to include immunodeficiency and epilepsy as clinically relevant features for this disorder. © 2016 Wiley Periodicals, Inc.

  18. A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndrome.

    Science.gov (United States)

    Duno, Morten; Wibrand, Flemming; Baggesen, Kirsten; Rosenberg, Thomas; Kjaer, Niels; Frederiksen, Anja L

    2013-02-25

    The archetypal NARP syndrome is almost exclusively associated with the m.8993T>C/G mutation in the sixth subunit of the mitochondrial ATP synthase, whereas other mutations in the MT-ATP6 gene primarily associate with Leigh syndrome or Leber's hereditary optic neuropathy (LHON). We report a novel mitochondrial point mutation, m.8989G>C, in a patient presenting with neuropathy, ataxia and retinitis pigmentosa constituting the classical NARP phenotype. This mutation alters the amino acid right next to canonical NARP mutation. We suggest that classic NARP syndrome relates to a defined dysfunction of p.MT-ATP6.

  19. [A case of anaphylaxis due to rose-flavored soft-serve ice cream with pollen food allergy syndrome].

    Science.gov (United States)

    Kitabayashi, Taeru; Sato, Sayuri; Adachi, Mitsuru

    2013-05-01

    We experienced a 10-year-old boy who had anaphylaxis after eating rose-flavored soft-serve ice cream. The patient felt a sense of discomfort in his throat when eating apple, peach, loquat, Japanese pear, and kiwi fruit. Therefore, we measured specific IgE antibodies to allergen components by ImmunoCAP ISAC. Consequently, the patient gave positive results for all PR-10 proteins from birch, alder, hazel, apple, peach, peanut, hazelnut, and soybean, so we diagnosed him with Pollen Food Allergy Syndrome (PFAS) induced by cross reactivity with pollens of birch family and fruits of rose family. When we conducted the skin prick test as is for red rose syrup because of the belief that anaphylaxis was caused by the rose ingredient contained in rose-flavored soft-serve ice cream, the patient gave a strong positive result. However, the results were negative for rose essence and Food Red No. 2 contained. Subsequently, it was found that red rose syrup contained apple juice. Therefore, we conducted the prick-prick test for apple, and the patient was confirmed to be strongly positive to apple. We thus identified apple as the cause of anaphylaxis. Since there is no legal obligation of labeling specific raw materials when directly selling manufactured and processed food products to general consumers, it is possible for general consumers to mistakenly take them in without knowing the containment of allergic substances. It is believed that the labeling method should be improved in the future.

  20. Partial hexasomy for the Prader-Willi-Angelman syndrome critical region due to a maternally inherited large supernumerary marker chromosome.

    Science.gov (United States)

    Hoppman-Chaney, Nicole L; Dawson, D Brian; Nguyen, Lai; Sengupta, Sunanda; Reynolds, Kara; McPherson, Elizabeth; Velagaleti, Gopalrao

    2010-08-01

    Extra copies of the Prader-Willi-Angelman syndrome critical region (PWASCR) have been shown to have detrimental phenotypic effects depending on the parent of origin. Hexasomy for the PWASCR is rare; only 6 cases have been described to date. We report on a 15-year-old girl referred for developmental delay and seizures with a mosaic tricentric small marker chromosome (SMC) 15 identified by routine G-banding chromosome studies. C-banding and FISH confirmed the presence of three chromosome 15 centromeres as well as four copies of the PWASCR on the SMC in approximately 60% of interphase cells. Microsatellite genotyping documented maternal inheritance of the SMC, and methylation-sensitive multiplex ligation-dependent PCR amplification (MS-MLPA) showed that the extra copies of the PWASCR contained on the marker chromosome bear a methylation pattern similar to a normal maternal chromosome, implying maternal inheritance. These findings are consistent with the patient's phenotype as paternal inheritance of such a marker chromosome is thought to be benign. However, this patient's phenotype is the mildest described to date and may be a result of mosaicism for the SMC.

  1. First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation.

    Science.gov (United States)

    Acquaviva, Fabio; Sana, Maria Elena; Della Monica, Matteo; Pinelli, Michele; Postorivo, Diana; Fontana, Paolo; Falco, Maria Teresa; Nardone, Anna Maria; Lonardo, Fortunato; Iascone, Maria; Scarano, Gioacchino

    2017-01-01

    Smith-Magenis syndrome (SMS) is a complex genetic disorder caused by interstitial 17p11.2 deletions encompassing multiple genes, including the retinoic acid induced 1 gene-RAI1-or mutations in RAI1 itself. The clinical spectrum includes developmental delay, cognitive impairment, and behavioral abnormalities, with distinctive physical features that become more evident with age. No patients have been reported to have had offspring. We here describe a girl with developmental delay, mainly compromising the speech area, and her mother with mild intellectual disabilities and minor dysmorphic features. Both had sleep disturbance and attention deficit disorder, but no other atypical behaviors have been reported. In both, CGH-array analysis detected a 15q13.3 interstitial duplication, encompassing CHRNA7. However, the same duplication has been observed in several, apparently healthy, maternal relatives. We, thus, performed a whole exome sequencing analysis, which detected a frameshift mutation in RAI1, de novo in the mother, and transmitted to her daughter. No other family members carried this mutation. This is the first report of an SMS patient having offspring. Our experience confirms the importance of searching for alternative causative genetic mechanisms in case of confounding/inconclusive findings such as a CGH-array result of uncertain significance. © 2016 Wiley Periodicals, Inc.

  2. Compartment syndrome like picture in metaphyseal comminuted fracture of tibia treated by locking plate due to tight closure

    Directory of Open Access Journals (Sweden)

    Prafulla Herode

    2013-01-01

    Full Text Available A 22-year-old male came to casualty on 5 th May 2012 after a fall from motorcycle. He complained of excruciating pain and swelling over right knee. There was an open wound of 7 × 2 cm over supra-patellar region and diffuse swelling over knee joint with severe tenderness over proximal aspect of right tibia. X-ray showed intra-articular fracture of proximal tibia extending to diaphysis classified as type 6 by Schatzker classification for proximal tibia, with fibula shaft transverse fracture. The skin over the fracture was contused. Debridement with primary wound closure was done in emergency. Skeletal traction was applied through a lower tibial Steinman pin. Patient was operated after 15 days when wound healed and swelling subsided. Locking plate was applied on medial aspect using Minimally invasive percutaneous plate osteosysthesis (MIPPO technique. Post-operatively over 4 hours patient developed severe pain and swelling in operated leg which mimicked compartment syndrome. Suture removal was done immediately in the ward from the distal aspect, which relieved the symptoms but lead to exposure of the plate. A rotational flap was done to cover the plate in coordination with a plastic surgeon on the next day.

  3. Tetany due to hypoparathyroidism as the initial manifestation of autoimmune polyendocrine syndrome type-2: A case report

    Directory of Open Access Journals (Sweden)

    Deep Dutta

    2012-01-01

    Full Text Available Hypoparathyroidism is most commonly isolated and idiopathic. Hypoparathyroidism in autoimmune polyendocrine syndrome type-2 (APS-2 is extremely rare with few isolated reports and usually presents late. We present perhaps for the first time, hypoparathyroidism being the initial manifestation of APS-2 which was diagnosed in a 32 year lady with tingling of the extremities along with hypocalcemic tetany for 15 years. She also had generalized acral and mucosal hyperpigmentation of 2 years duration. Investigations were significant for low calcium (7.1mg/dl, elevated phosphorus (4.8mg/dl, vitamin-D insufficiency (27.4ng/ml, low intact parathyroid hormone (2.3pg/ml, low basal (4.7mcg/dl and stimulated serum cortisol (9.2mcg/dl at half hour, 11.4mcg/dl at 1 hour post synacthen, elevated triiodothyronine (2.1ng/ml and free tetraiodothyronine (2.4ng/dl along with suppressed TSH (<0.005 U/L. Imaging relevaled mild cerebellar calcification, normal adrenals with diffuse uptake of Tc 99 - pertechnate. A diagnosis of hypoparathyroidism with Addison′s and Graves′ disease as a part of APS-2 was made. This report intends to highlight the clinical heterogeneity and varied presentation of APS-2. Routine screening of other hormonal function (especially adrenal function, thyroid function and blood glucose in a patient with diagnosed hypoparathyroidism is advisable to decrease the chances of missing APS-2.

  4. Tetany due to hypoparathyroidism as the initial manifestation of autoimmune polyendocrine syndrome type-2: A case report.

    Science.gov (United States)

    Dutta, Deep; Maisnam, Indira; Ghosh, Sujoy; Dasgupta, Ranen; Mukhopadhyay, Satinath; Chowdhury, Subhankar

    2012-12-01

    Hypoparathyroidism is most commonly isolated and idiopathic. Hypoparathyroidism in autoimmune polyendocrine syndrome type-2 (APS-2) is extremely rare with few isolated reports and usually presents late. We present perhaps for the first time, hypoparathyroidism being the initial manifestation of APS-2 which was diagnosed in a 32 year lady with tingling of the extremities along with hypocalcemic tetany for 15 years. She also had generalized acral and mucosal hyperpigmentation of 2 years duration. Investigations were significant for low calcium (7.1mg/dl), elevated phosphorus (4.8mg/dl), vitamin-D insufficiency (27.4ng/ml), low intact parathyroid hormone (2.3pg/ml), low basal (4.7mcg/dl) and stimulated serum cortisol (9.2mcg/dl at half hour, 11.4mcg/dl at 1 hour post synacthen), elevated triiodothyronine (2.1ng/ml) and free tetraiodothyronine (2.4ng/dl) along with suppressed TSH (<0.005 U/L). Imaging relevaled mild cerebellar calcification, normal adrenals with diffuse uptake of Tc(99)- pertechnate. A diagnosis of hypoparathyroidism with Addison's and Graves' disease as a part of APS-2 was made. This report intends to highlight the clinical heterogeneity and varied presentation of APS-2. Routine screening of other hormonal function (especially adrenal function, thyroid function and blood glucose) in a patient with diagnosed hypoparathyroidism is advisable to decrease the chances of missing APS-2.

  5. Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy

    Energy Technology Data Exchange (ETDEWEB)

    Cassidy, S.B.; Lai, Li-Wen; Erickson, R.P. (Univ. of Arizona College of Medicine, Tucson, AZ (United States)); Magnuson, L.; Thomas, E.; Herrmann, J. (Great Lakes Genetics, Milwaukee, AZ (United States)); Gendron, R. (Great Lakes Genetics, Kingsport, TN (United States))

    1992-10-01

    Uniparental disomy has recently been recognized to cause human disorders, including Prader-Willi syndrome (PWS). The authors describe a particularly instructive case which raises important issues concerning the mechanisms producing uniparental disomy and whose evaluation provides evidence that trisomy may precede uniparental disomy in a fetus. Chorionic villus sampling performed for advanced maternal age revealed trisomy 15 in all direct and cultured cells, though the fetus appeared normal. Chromosome analysis of amniocytes obtained at 15 wk was normal in over 100 cells studied. The child was hypotonic at birth, and high-resolution banding failed to reveal the deletion of 15q11-13, a deletion which is found in 50%-70% of patients with PWS. Over time, typical features of PWS developed. Molecular genetic analysis using probes for chromosome 15 revealed maternal disomy. Maternal nondisjunction with fertilization of a disomic egg by a normal sperm, followed by loss of the paternal 15, is a likely cause of confined placental mosaicism and uniparental disomy in this case of PWS, and advanced maternal age may be a predisposing factor. 38 refs., 3 figs., 2 tabs.

  6. Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.

    Science.gov (United States)

    Melo, Uirá S; Macedo-Souza, Lucia I; Figueiredo, Thalita; Muotri, Alysson R; Gleeson, Joseph G; Coux, Gabriela; Armas, Pablo; Calcaterra, Nora B; Kitajima, João P; Amorim, Simone; Olávio, Thiago R; Griesi-Oliveira, Karina; Coatti, Giuliana C; Rocha, Clarissa R R; Martins-Pinheiro, Marinalva; Menck, Carlos F M; Zaki, Maha S; Kok, Fernando; Zatz, Mayana; Santos, Silvana

    2015-12-15

    SPOAN syndrome is a neurodegenerative disorder mainly characterized by spastic paraplegia, optic atrophy and neuropathy (SPOAN). Affected patients are wheelchair bound after 15 years old, with progressive joint contractures and spine deformities. SPOAN patients also have sub normal vision secondary to apparently non-progressive congenital optic atrophy. A potential causative gene was mapped at 11q13 ten years ago. Here we performed next-generation sequencing in SPOAN-derived samples. While whole-exome sequencing failed to identify the causative mutation, whole-genome sequencing allowed to detect a homozygous 216-bp deletion (chr11.hg19:g.66,024,557_66,024,773del) located at the non-coding upstream region of the KLC2 gene. Expression assays performed with patient's fibroblasts and motor neurons derived from SPOAN patients showed KLC2 overexpression. Luciferase assay in constructs with 216-bp deletion confirmed the overexpression of gene reporter, varying from 48 to 74%, as compared with wild-type. Knockdown and overexpression of klc2 in Danio rerio revealed mild to severe curly-tail phenotype, which is suggestive of a neuromuscular disorder. Overexpression of a gene caused by a small deletion in the non-coding region is a novel mechanism, which to the best of our knowledge, was never reported before in a recessive condition. Although the molecular mechanism of KLC2 up-regulation still remains to be uncovered, such example adds to the importance of non-coding regions in human pathology.

  7. High fasting serum insulin level due to autoantibody interference in insulin immunoassay discloses autoimmune insulin syndrome: a case report.

    Science.gov (United States)

    Lamy, Pierre-Jean; Sault, Corinne; Renard, Eric

    2016-08-01

    Insulin-antibodies are a cause of misleading results in insulin immunoassays. They may also mediate deleterious blood glucose variations. A patient presented with overtiredness, recurrent episodes of sweating, dizziness and fainting fits. A fasting serum insulin assay performed on a Modular platform (Modular analytic E170, Roche Diagnostic, Meylan, France) showed a highly elevated value of 194.7 mIU/L, whereas on the same sample glucose and C-peptide levels were normal. Other immunometric insulin assays were performed, as well as antibodies anti-insulin radiobinding assay (RBA) and gel filtration chromatography (GFC). While complementary insulin assays yielded closer to normal fasting levels, the free insulin concentration assessed after PEG precipitation was 14.0 mIU/L and the RBA was positive. GFC revealed that most of the insulin was complexed with a 150 kDa molecule, corresponding to an immunoglobulin G (IgG). A high fasting serum insulin level in a patient with neuroglucopenic symptoms was related to a high insulin-antibody level, suggesting an insulin autoimmune syndrome.

  8. Concurrent Therapy with a Low-carbohydrate Diet and Miglitol Remarkably Improved the Postprandial Blood Glucose and Insulin Levels in a Patient with Reactive Hypoglycemia due to Late Dumping Syndrome.

    Science.gov (United States)

    Hirose, Sachie; Iwahashi, Yasuyuki; Seo, Akane; Sumiyoshi, Michitaka; Takahashi, Tetsuya; Tamori, Yoshikazu

    2016-01-01

    Reactive hypoglycemia induced by late dumping syndrome is often observed after gastrectomy. However, no effective therapy has yet been fully established. We herein describe a case in which concurrent therapy with a low-carbohydrate diet using low-glycemic-index food and an alpha-glucosidase inhibitor, miglitol, very effectively ameliorated the postprandial fluctuations in the blood glucose and plasma insulin levels in a patient with reactive hypoglycemia due to late dumping syndrome following total gastrectomy. The administration of miglitol under a low-carbohydrate diet using low-glycemic-index food may therefore be an ideal treatment for reactive hypoglycemia due to late dumping syndrome.

  9. Difficulties with diagnosis and consequential poor outcome due to stigma of acquired immunodeficiency syndrome – a case report

    Science.gov (United States)

    Vuletic, Vladimira; Nevajda, Branimir; Spero, Martina; Chudy, Darko

    2013-01-01

    Low incidence of human immunodeficiency virus (HIV) infections and acquired immunodeficiency syndrome (AIDS) has been detected in Croatia so far. Toxoplasmic encephalitis (TE) is the most common opportunistic cerebral infection in AIDS patients and is highly responsive to antiparasitic chemotherapy, if treated at an early stage. We present the case of the brain biopsy confirmed as TE on a 36-year-old female patient who at admission presented with unconsciousness and a right hemiplegia. A MSCT was performed and two hypodense lesions were diagnosed. The patient’s family initially denied the presence or history of any medical problem or infection. An MRI showed multiple ring-enhanced mass lesions. An infectologist required a brain biopsy to exclude cerebral lymphoma and multiple metastases. Pathohistological analysis suggested TE. Meanwhile, patient’s blood samples were found to be HIV positive. The patient was transferred to University Hospital for Infectious Diseases in Zagreb, where she died 2 days following admission. The patient’s family terminally confessed that the patient had been HIV positive for 10 years and had refused any treatment. Family’s denial of infection as well as ‘hiding information’ concerning patient’s health from physicians involved in her treatment caused a delay in proper on-time patient treatment. We would like to emphasize that TE must be considered as a differential diagnosis in patients presenting with multiple cerebral lesions, including patients without acknowledged past history of HIV infection. A stigma towards HIV infection and ignorance of the disease still exist and therefore hinders proper treatment. PMID:24091082

  10. End-stage kidney disease due to haemolytic uraemic syndrome – outcomes in 241 consecutive ANZDATA registry cases

    Directory of Open Access Journals (Sweden)

    Tang Wen

    2012-12-01

    Full Text Available Abstract Background The aim of this study was to investigate the characteristics and outcomes of patients receiving renal replacement therapy for end-stage kidney disease (ESKD secondary to haemolytic uraemic syndrome (HUS. Methods The study included all patients with ESKD who commenced renal replacement therapy in Australia and New Zealand between 15/5/1963 and 31/12/2010, using data from the ANZDATA Registry. HUS ESKD patients were compared with matched controls with an alternative primary renal disease using propensity scores based on age, gender and treatment era. Results Of the 58422 patients included in the study, 241 (0.4% had ESKD secondary to HUS. HUS ESKD was independently associated with younger age, female gender and European race. Compared with matched controls, HUS ESKD was not associated with mortality on renal replacement therapy (adjusted hazard ratio [HR] 1.14, 95% CI 0.87-1.50, p = 0.34 or dialysis (HR 1.34, 95% CI 0.93-1.93, p = 0.12, but did independently predict recovery of renal function (HR 54.01, 95% CI 1.45-11.1, p = 0.008. 130 (54% HUS patients received 166 renal allografts. Overall renal allograft survival rates were significantly lower for patients with HUS ESKD at 1 year (73% vs 91%, 5 years (62% vs 85% and 10 years (49% vs 73%. HUS ESKD was an independent predictor of renal allograft failure (HR 2.59, 95% CI 1.70-3.95, p  Conclusions HUS is an uncommon cause of ESKD, which is associated with comparable patient survival on dialysis, an increased probability of renal function recovery, comparable patient survival post-renal transplant and a heightened risk of renal transplant graft failure compared with matched ESKD controls.

  11. Successful Colectomy for Hemorrhagic Colitis with Hemolytic Uremic Syndrome and Acute Encephalopathy due to Escherichia coli O157 Infection

    OpenAIRE

    Tetsuro Tominaga; Masahiro Oikawa; Hiroaki Takeshita; Masaki Kunizaki; Kazuo Tou; Takafumi Abo; Shigekazu Hidaka; Atsushi Nanashima; Terumitsu Sawai; Takeshi Nagayasu

    2014-01-01

    An 81-year-old man was admitted to a primary care hospital due to bloody diarrhea. The findings of abdominal computed tomography indicated ischemic colitis, so conservative therapy was started. On the 4th hospital day, the patient was transferred to our hospital because of renal dysfunction. Physical examination showed clouding of consciousness and abdominal distention. Abdominal computed tomography revealed massive ascites and thickening of the whole colonic wall. With a diagnosis of acute a...

  12. Radioiodine therapy in a patient with papillary thyroid carcinoma associated with breast uptake; hyperprolactinemia due to empty sella syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Pai, Moon Sun; Park, Chan H.; Seo, Jung Ho [College of Medicine, Ajou Univ., Suwon (Korea, Republic of); Kim, Kyoung Rae [Yungdong Sevrance Hospital, Seoul (Korea, Republic of)

    1998-01-01

    We report a 37 year-old-female patient with papillary thyroid cancer treated by surgery who demonstrated residual thyroid and bilateral breast uptake on a diagnostic I-131 whole body scan. She had an extrathyroidal extension needing I-131 ablative therapy. Her galactorrhea was investigated and treated with low doses of bromocriptine prior to I-131 therapy. Her galactorrhea was was due to the decreased secretion of PIF induced by empty sella.

  13. Síndrome pulmonar por hantavirus Andes en Chile CARDIOPULMONARY SYNDROME DUE TO ANDES VIRUS IN CHILE

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    CONSTANZA CASTILLO H.

    2002-01-01

    Full Text Available Desde 1993 han ocurrido 204 casos de Síndrome Cardiopulmonar por Hantavirus (SCPH en Chile. Los brotes epidémicos comenzaron en el sur y avanzan hacia el norte del país. Los más afectados son varones jóvenes, obreros agrícolas o forestales. En Chile, el SCPH es causado por el virus Andes, cuyo reservorio es el Oligorizomys longicaudatus (ratón de cola larga, que se distribuye desde la III Región al sur. El cuadro clínico es similar al descrito en EE.UU., caracterizado por una fase prodrómica que simula un estado gripal o cuadro gastrointestinal febril y que agrava por la aparición de edema pulmonar agudo e inestabilidad hemodinámica (fase cardiopulmonar. Sin embargo, cursa con mayores alteraciones hemorragí-paras y compromiso renal. La mortalidad inicial fue sobre 50% y actualmente es de alrededor del 33,3%. La presente revisión incluye: historia de la enfermedad, reservorio, modos de transmisión, patogenia, cuadro clínico, diagnóstico, tratamiento y medidas de prevenciónSince 1993, 204 cases of Hantavirus cardiopulmonary syndrome (HCPS occurred in Chile. Epidemic began in the south and moved thereafter to the northern regions. The disease affected predominantly young males, who worked in agricultural labours or as timber workers. The HCPS in Chile is caused by the Andes virus. The reservoir is the wild rat Oligoryzomis longicaudatus distributed from the III to the XII Region. The clinical features are similar to those described for Sin Nombre Virus. The disease has a prodromal stage characterised by fever, muscular pain, with or without gastrointestinal manifestations, followed by the rapid onset of respiratory insufficiency and haemodynamic unstability. Andes virus courses more often with haemorrhagic disorders and overt renal failure, than Sin Nombre Virus. The initial mortality was over 50% and declined to 33,3% in the last year. History of hantavirus-diseases, reservoir, and mode of contagion, pathogenesis, clinical

  14. Reversible acute axonal polyneuropathy associated with Wernicke-Korsakoff syndrome: impaired physiological nerve conduction due to thiamine deficiency?

    Science.gov (United States)

    Ishibashi, S; Yokota, T; Shiojiri, T; Matunaga, T; Tanaka, H; Nishina, K; Hirota, H; Inaba, A; Yamada, M; Kanda, T; Mizusawa, H

    2003-05-01

    Acute axonal polyneuropathy and Wernicke-Korsakoff encephalopathy developed simultaneously in three patients. Nerve conduction studies (NCS) detected markedly decreased compound muscle action potentials (CMAPs) and sensory nerve action potentials (SNAPs) with minimal conduction slowing; sympathetic skin responses (SSRs) were also notably decreased. Sural nerve biopsies showed only mild axonal degeneration with scattered myelin ovoid formation. The symptoms of neuropathy lessened within two weeks after an intravenous thiamine infusion. CMAPs, SNAPs, and SSRs also increased considerably. We suggest that this is a new type of peripheral nerve impairment: physiological conduction failure with minimal conduction delay due to thiamine deficiency.

  15. Adrenal Cushing's syndrome due to bilateral macronodular adrenal hyperplasia: prediction of the efficacy of beta-blockade therapy and interest of unilateral adrenalectomy.

    Science.gov (United States)

    Mazzuco, Tânia L; Chaffanjon, Philippe; Martinie, Monique; Sturm, Nathalie; Chabre, Olivier

    2009-01-01

    Bilateral adrenalectomy is the standard treatment for Cushing's syndrome (CS) related to ACTH-independent bilateral macronodular hyperplasia (AIMAH), although it imposes life-long adrenal insufficiency. This study reports a clinical case in order to discuss the clinical interest of pharmacological beta-blockade of illegitimate membrane receptors and unilateral adrenalectomy as alternatives to bilateral adrenalectomy for treatment of CS due to AIMAH. Evidence for cortisol stimulation by upright posture and insulin-induced hypoglycemia in a patient with CS related to AIMAH led us to try beta-blockers as a therapeutic test and then as a first line treatment. Thus, a 3-day beta-blocker test (320 mg/d propranolol) induced normalization of cortisol secretion, with return of hypercortisolism at the end of the test. A long term treatment with 320 mg/d propranolol allowed sustained normalization of cortisol secretion and progressive disappearance of Cushingoid features but after 8 months the patient complained of Raynaud's syndrome and fatigue. Lowering propranolol dosage or switching to atenolol was less efficient to reduce cortisol levels. Unilateral adrenalectomy was then performed as a second line treatment, leading to normalisation of the 24h urinary cortisol without adrenal insufficiency. Long term control of blood pressure and glycemia were observed during a 7-year follow-up without beta-blocker. In conclusion, a 3-day propranolol test may identify patients with AIMAH who can benefit from a long term beta-blocker treatment. In case of intolerance to beta-blocking agents, unilateral adrenalectomy may allow for long term control of Cushing's syndrome related to AIMAH without adrenal insufficiency.

  16. What is Metabolic Syndrome?

    Science.gov (United States)

    ... from the NHLBI on Twitter. What Is Metabolic Syndrome? Metabolic syndrome is the name for a group of ... that may play a role in causing metabolic syndrome. Outlook Metabolic syndrome is becoming more common due to a ...

  17. Factors Associated with Death Due to 2009 Influenza A (H1N1) Virus Infection and Acute Respiratory Distress Syndrome in Beijing, 2009-2011

    Institute of Scientific and Technical Information of China (English)

    Jin-qian; Zhang; Li-cheng; Zhang; Na; Ren; Ming; Zhang; Li-min; Guo; Xing-wang; Li; Jun; Cheng

    2012-01-01

    Objective Patients with H1N1 virus infection were hospitalized and quarantined, and some of them developed into acute respiratory failure, and were transfered to the medical intensive care unit of Beijing Ditan Hospital, Capital Medical University in Beijing, China. Methods The clinical features and preliminary epidemiologic findings among 30 patients with confirmed H1N1 virus infection who developed into acute respiratory failure for ventilatory support were investigated. Results A total of 30 patients(37.43 ± 18.80 years old) with 2009 influenza A(H1N1) related acute respiratory distress syndrome(ARDS) received treatment with mechanical ventilation, 15 cases of whom were male and 17 cases died of ARDS. Fatal cases were significantly associated with an APACHE Ⅱ score(P = 0.016), but not with PaO 2 /FIO 2(P = 0.912) and chest radiograph(P = 0.333). The most common complication was acute renal failure(n = 9). Five patients received extracorporeal membrane oxygenation(ECMO), 3 of whom died and the others survived. The major causes of death were multiple organ dysfunction syndrome(MODS)(39%), intractable respiratory failure(27%) and sepsis(20%). Conclusions Most patients with respiratory failure due to influenza A(H1N1) virus infection were young, with a high mortality, particularly associated with APACHE Ⅱ score, secondary infection of lung or type 2 diabetes mellitus.

  18. L712V mutation in the androgen receptor gene causes complete androgen insensitivity syndrome due to severe loss of androgen function.

    Science.gov (United States)

    Rajender, Singh; Gupta, Nalini J; Chakrabarty, Baidyanath; Singh, Lalji; Thangaraj, Kumarasamy

    2013-12-11

    Inability to respond to the circulating androgens is named as androgen insensitivity syndrome (AIS). Mutations in the androgen receptor (AR) gene are the most common cause of AIS. A cause and effect relationship between some of these mutations and the AIS phenotype has been proven by in vitro studies. Several other mutations have been identified, but need to be functionally validated for pathogenicity. Screening of the AR mutations upon presumptive diagnosis of AIS is recommended. We analyzed a case of complete androgen insensitivity syndrome (CAIS) for mutations in the AR gene. Sequencing of the entire coding region revealed C>G mutation (CTT-GTT) at codon 712 (position according to the NCBI database) in exon 4 of the gene, resulting in replacement of leucine with valine in the ligand-binding domain of the AR protein. No incidence of this mutation was observed in 230 normal male individuals analyzed for comparison. In vitro androgen binding and transactivation assays using mutant clone showed approximately 71% loss of ligand binding and about 76% loss of transactivation function. We conclude that CAIS in this individual was due to L712V substitution in the androgen receptor protein.

  19. Dhakeri-Bange syndrome in goats due to Penicillium and Aspergillus spp, in Banke district of Nepal: a Clinical-Laboratory Investigation

    Directory of Open Access Journals (Sweden)

    Kedar Karki

    Full Text Available An outbreak of syndrome of unknown etiology associated with the feeding of moldy dry forage and green fodder to goats in Dhakeri village of Banke District. Goats suddenly became ill with symptoms of knuckling of the fetlocks of the pelvic limbs, with no apparent ataxia or flexor weakness. Weight bearing was possible while the digits were extended, but with knuckling, weight was supported on the dorsal surface of the foot .The more severely affected goats were paraplegic and recumbent. Anorexia, apathy, diarrhea and ruminal stasis, flaccid posterior paralysis,hindlegs stretched forward both side of abdomin,paralysis of all four legs, head bented to sides, aimlessly head and rear shaking .On clinical examination based on history these goats were provisionally diagnosed as Dhakeri-Bange as being called locally and Endemic Mycotic polyneuropathy syndrome as seen first time in Nepal due to moldy forage/fodder poisoning in natural pasture were treated with Antidegnala liquor(sr. On mycological and microbiological examination of tissue samples from post-mortem of dead goat and forage/fodder samples from pasture and goats feeding stalls on respective medium revealed the growth of fungal pathogens like Aspergillus and Penicillium spp with E.coli.These results provide circumstantial evidence that feeding of moldy forages and green fodder leaves infected by Penicillium and Aspergillus spp may cause outbreaks of a systemic Mycosis in these goats. [Vet. World 2008; 1(12.000: 357-359

  20. Combined treatment with bicalutamide and anastrozole in a young boy with peripheral precocious puberty due to McCune-Albright Syndrome.

    Science.gov (United States)

    Tessaris, Daniele; Matarazzo, Patrizia; Mussa, Alessandro; Tuli, Gerdi; Verna, Francesca; Fiore, Ludovica; Lala, Roberto

    2012-01-01

    McCune-Albright Syndrome (MAS) is a congenital endocrine disorder due to mosaic tissutal hyper-function. We describe a boy with a molecularly confirmed MAS, clinically evident with congenital café-au-lait spots, bone fibrous dysplasia, hyperthyroidism, and renal phosphate wasting syndrome. At 4.6 years of age he disclosed a rapid progression of peripheral puberty, so we decided to treat him with bicalutamide 25 mg/day and anastrozole 1 mg/day. Combined third generation aromatase inhibitors - competitive androgen receptor blockers were employed in familial male precocious puberty (FMPP). Combined treatment was performed for 49 months from the age of 4.6 to 6.7 years. The patient underwent clinical, laboratory, and instrumental evaluation twice a year from the first admission to the current age. This treatment caused a rapid normalization of growth velocity, subsequent reduction of penile androgenization, and stabilization of testicular volume. The therapy was well tolerated for all its duration and neither side effects, nor secondary hypothalamic activation were noted. This report provides further evidence of effectiveness and safety of combined third generation aromatase inhibitors - competitive androgen receptor blockers in male precocious peripheral puberty, firstly employed in male MAS, and contributes to expand the spectrum of disorders in which their employment may reveal promising.

  1. Unusual presentation of obstructive sleep apnoea syndrome due to a giant mandible osteoma: case report and literature review.

    Science.gov (United States)

    Tarsitano, A; Marchetti, C

    2013-02-01

    Osteomas are benign lesions composed of mature compact and/or cancellous bone that grow continuously. Their pathogenesis is unknown. It has been considered to be a neoplasm, a developmental or reactive osteogenic lesion resulting from muscle traction on the periosteum, or due to trauma. Herein, we report an unusual case of giant osteoma of the mandible depressing the lateral pharyngeal wall, interfering with normal respiration during the night. The uniqueness of this case is related to snoring and sleep apnoea symptoms. In fact, he presented to our Department because daytime sleepiness hindered his work, and not for the evident facial swelling. We reported our experience in diagnosis, treatment and follow-up of this uncommon disease. Polysomnography, CT scan and 3-D PAS volume analysis are useful tools to study in detail the aetiology of apnoea and assess outcomes.

  2. Intermittent gastric outlet obstruction due to a gallstone migrated through a cholecysto-gastric fistula: A new variant of "Bouveret's syndrome"

    Institute of Scientific and Technical Information of China (English)

    Dimitry Arioli; Mario De Santis; Fabrizio Di Benedetto; Giorgio Enrico Gerunda; Maria Luisa Zeneroli; Ivo Venturini; Michele Masetti; Elisa Romagnoli; Antonella Scarcelli; Pietro Ballesini; Athos Borghi; Alessandro Barberini; Vincenzo Spina

    2008-01-01

    Bouveret's syndrome, defined as gastric outlet obstruction due to a large gallstone, is still one of the most dramatic biliary gallstone complications. Although new radiological and endoscopic techniques have made pre-surgical diagnosis possible in most cases and the death rate has dropped dramatically, "one-stage surgery" (biliary surgery carried out at the same time as the removal of the gut obstruction) should be still considered as the gold standard for the treatment of gallstone ileus. In this case, partial gastric outlet obstruction resulted in an atypical and insidious clinical presentation that allowed us to perform the conventional one-stage laparatomic procedure that completely solved the problem, thus avoiding any further complications.

  3. Traumatic duodenal lesions in children due to two-point seat-belt: the seat-belt syndrome.

    Science.gov (United States)

    Guanà, R; Sangiorgio, L; Tessiatore, P; Seymandi, P

    2012-02-01

    Two consecutive children, motor vehicle accident victims, were treated between December 2006 and January 2007. They reported duodenal perforations due to lap-belt action. In the first case (a 9-year-old boy), symptoms became immediately evident after the trauma. Early computerized tomography (CT) scan demonstrated biliaryhemoperitonitis and free sub-diaphragmatic air. At the laparotomy a complete duodenal transection, at the level of duodenal bulb, was found. In the second patient, early X-ray and CT scan revealed no free abdominal air; only the second CT scan, repeated after 48 hours, when general conditions of the girl become critical, demonstrated biliary peritonitis and aerial extraluminal gas image in the right peri-kidney space. At the surgical exploration a duodenal laceration was noted, at the passage between the second and the third duodenal portion, in the postero-lateral wall, with an extension of 6 cm. In both children direct suture of duodenal injury without stoma construction was performed. Not early or late postoperative complications were registered (follow-up: 18 months). In the traumatic duodenal lesions an early diagnosis is not always possible because of the paucity of the clinical signs. Tightened clinical and radiological monitoring of the patient is fundamental in the successive hours to the trauma. Early diagnosis and high level of suspicious rest crucial for better prognosis in this group of patients.

  4. Syndrome-Specific Deficits of Performance and Effects of Practice on Arm Movements with Deafferentation due to Posterior Thalamic Lesion

    Directory of Open Access Journals (Sweden)

    Thomas Platz

    1997-01-01

    Full Text Available Aiming and tapping movements were analysed repeatedly over a three-week period in a patient who was hemideafferented due to an ischaemic posterior thalamic lesion. Contrasting behaviour observed in six healthy subjects, nine hemiparetic patients and one patient with hemianopic stroke, allowed the determination of behavioural deficits related to deafferentation. Finger tapping was not impaired specifically and did not improve with practice in the deafferented patient. When aiming movements were investigated, accuracy of the first, largely preprogrammed, phase of movement and timing of the late homing-in phase were impaired specifically in the deafferented patient. Practice led to a step-like change in preprogramming amplitude of the ballistic movement component, a gradual improvement of temporal efficiency of the early movement phase and a more marked improvement of the homing-in phase. Qualitatively comparable but quantitatively less marked effects of practice were documented for hemiparetic patients. These results demonstrated that deafferentation affects preprogrammed aspects of movement and those influenced by current control and that motor learning is possible with central deafferentation, even for aspects of performance that are impaired specifically. It is postulated that motor learning was mediated by changes in strategy (motor programming and improved efficiency of intact motor control processes (visuomotor control.

  5. Fatal case of hemolytic-uremic syndrome in an adult due to a rare serogroup O91 Entero hemorrhagic Escherichia coli associated with a Clostridium difficile infection. More than meets the eye

    Directory of Open Access Journals (Sweden)

    Thomas Guillard

    2015-08-01

    Full Text Available Hemolytic-uremic syndrome due to enterohemorrhagic Escherichia coli, belonging to serogroup O91 has rarely been described. We report here a case of post-diarrheal HUS due to EHEC O91 in an elderly patient for whom diagnosis was delayed given a previously diagnosed C. difficile infection. This case highlights the usefulness of Shiga-toxin detection.

  6. Respiratory failure due to morbid obesity in a patient with Prader-Willi syndrome: an experience of long-term mechanical ventilation.

    Science.gov (United States)

    Nishikawa, Masashi; Mizutani, Taro; Nakao, Tomohei; Kamoda, Tomohiro; Takahashi, Shinji; Toyooka, Hidenori

    2006-01-01

    Prader-Willi syndrome (PWS) is characterized by obesity, mild mental retardation or learning disability, and behavior problems, especially in association with food and eating. A 19 year-old man, 150 cm, 140 kg (body mass index [BMI], 62.2 kg.m(-2)), whose condition had been diagnosed as PWS, received 41-day mechanical ventilation because of respiratory failure, chiefly due to morbid obesity. Because the patient frequently developed bronchoconstriction, metered-dose inhalers of a corticosteroid (beclomethasone dipropionate) and a beta2 agonist (salbutamol) were needed. To achieve adequate sedation, which was also crucial to control the bronchoconstriction, the concurrent use of midazolam, fentanyl, ketamine, and propofol was required. Pressure-control ventilation was useful to avoid high airway pressure due to low respiratory system compliance associated with the morbid obesity. Because it appeared that the basic problem leading to respiratory failure in this patient was morbid obesity, body weight reduction was considered to be mandatory. Thus, caloric intake was limited to 1000 kcal.day(-1), resulting in body weight reduction by 50 kg during the patient's stay in the intensive care unit (ICU). The patient was successfully extubated on ICU day 35.

  7. [Case of unilateral thalamo-mesencephalic infarction with enlargement to bilateral vertical gaze palsy due to vertical one-and-a-half syndrome].

    Science.gov (United States)

    Suzuki, Keisuke; Odaka, Masaaki; Tatsumoto, Muneto; Miyamoto, Tomoyuki; Takamatsu, Kazuhiro; Hirata, Koichi

    2008-01-01

    An 88-year-old female with atrial fibrillation and hypertension, was admitted to our hospital with sudden onset diplopia and somnolence. She had right hemiparesis with bilateral positive Babinski's sign. Additionally, there was bilateral blepharoptosis with right esotropia. With regard to extraocular movement, the patient demonstrated conjugate upgaze palsy and left monocular down gaze palsy (vertical one-and-a-half syndrome: VOHS). Horizontal gaze in the left eye was completely impaired and there was limited abduction of the right eye. Magnetic resonance imaging of the brain showed left thalamo-mesencephalic infarction. On day 4, the vertical eye movement developed into conjugate upgaze and down- gaze palsies. Magnetic resonance imaging of the brain indicated high signal lesion extending into the dorsal portion of the midbrain. It was suggested that the pathway to contralateral downgaze neurons could have been damaged due to the unilateral (left) dosal midbrain lesion before its decussation with the unilateral interstitial nucleus of Cajal, the oculomotor nucleus and the rostral interstitial nucleus of the medial longitudinal fasciculus. This case is considered to be important because there has been no previous report of bilateral vertical gaze palsy due to VOHS in the same patient. Since there are various patterns of ocular movement disorder in the thalamo-mesencephalic portion, careful observations are required to localize the lesions.

  8. Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann syndrome due to defects in the function of pancreatic beta-cell adenosine triphosphate-sensitive potassium channels

    DEFF Research Database (Denmark)

    Hussain, K; Cosgrove, K E; Shepherd, R M

    2005-01-01

    Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome that is clinically and genetically heterogeneous. Hyperinsulinemic hypoglycemia occurs in about 50% of children with BWS and, in the majority of infants, it resolves spontaneously. However, in a small group of patients the hypo......Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome that is clinically and genetically heterogeneous. Hyperinsulinemic hypoglycemia occurs in about 50% of children with BWS and, in the majority of infants, it resolves spontaneously. However, in a small group of patients...

  9. Imaging mass spectrometry visualizes ceramides and the pathogenesis of dorfman-chanarin syndrome due to ceramide metabolic abnormality in the skin.

    Science.gov (United States)

    Goto-Inoue, Naoko; Hayasaka, Takahiro; Zaima, Nobuhiro; Nakajima, Kimiko; Holleran, Walter M; Sano, Shigetoshi; Uchida, Yoshikazu; Setou, Mitsutoshi

    2012-01-01

    Imaging mass spectrometry (IMS) is a useful cutting edge technology used to investigate the distribution of biomolecules such as drugs and metabolites, as well as to identify molecular species in tissues and cells without labeling. To protect against excess water loss that is essential for survival in a terrestrial environment, mammalian skin possesses a competent permeability barrier in the stratum corneum (SC), the outermost layer of the epidermis. The key lipids constituting this barrier in the SC are the ceramides (Cers) comprising of a heterogeneous molecular species. Alterations in Cer composition have been reported in several skin diseases that display abnormalities in the epidermal permeability barrier function. Not only the amounts of different Cers, but also their localizations are critical for the barrier function. We have employed our new imaging system, capable of high-lateral-resolution IMS with an atmospheric-pressure ionization source, to directly visualize the distribution of Cers. Moreover, we show an ichthyotic disease pathogenesis due to abnormal Cer metabolism in Dorfman-Chanarin syndrome, a neutral lipid storage disorder with ichthyosis in human skin, demonstrating that IMS is a novel diagnostic approach for assessing lipid abnormalities in clinical setting, as well as for investigating physiological roles of lipids in cells/tissues.

  10. Imaging mass spectrometry visualizes ceramides and the pathogenesis of dorfman-chanarin syndrome due to ceramide metabolic abnormality in the skin.

    Directory of Open Access Journals (Sweden)

    Naoko Goto-Inoue

    Full Text Available Imaging mass spectrometry (IMS is a useful cutting edge technology used to investigate the distribution of biomolecules such as drugs and metabolites, as well as to identify molecular species in tissues and cells without labeling. To protect against excess water loss that is essential for survival in a terrestrial environment, mammalian skin possesses a competent permeability barrier in the stratum corneum (SC, the outermost layer of the epidermis. The key lipids constituting this barrier in the SC are the ceramides (Cers comprising of a heterogeneous molecular species. Alterations in Cer composition have been reported in several skin diseases that display abnormalities in the epidermal permeability barrier function. Not only the amounts of different Cers, but also their localizations are critical for the barrier function. We have employed our new imaging system, capable of high-lateral-resolution IMS with an atmospheric-pressure ionization source, to directly visualize the distribution of Cers. Moreover, we show an ichthyotic disease pathogenesis due to abnormal Cer metabolism in Dorfman-Chanarin syndrome, a neutral lipid storage disorder with ichthyosis in human skin, demonstrating that IMS is a novel diagnostic approach for assessing lipid abnormalities in clinical setting, as well as for investigating physiological roles of lipids in cells/tissues.

  11. Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS Type Ib

    Directory of Open Access Journals (Sweden)

    McDonald Jay M

    2007-07-01

    Full Text Available Abstract Background: Autoimmune lymphoproliferative syndrome (ALPS is a disorder of lymphocyte homeostasis and immunological tolerance due primarily to genetic defects in Fas (CD95/APO-1; TNFRSF6, a cell surface receptor that regulates apoptosis and its signaling apparatus. Methods: Fas ligand gene mutations from ALPS patients were identified through cDNA and genomic DNA sequencing. Molecular and biochemical assessment of these mutant Fas ligand proteins were carried out by expressing the mutant FasL cDNA in mammalian cells and analysis its effects on Fas-mediated programmed cell death. Results: We found an ALPS patient that harbored a heterozygous A530G mutation in the FasL gene that replaced Arg with Gly at position 156 in the protein's extracellular Fas-binding region. This produced a dominant-interfering FasL protein that bound to the wild-type FasL protein and prevented it from effectively inducing apoptosis. Conclusion: Our data explain how a naturally occurring heterozygous human FasL mutation can dominantly interfere with normal FasL apoptotic function and lead to an ALPS phenotype, designated Type Ib.

  12. Hyperhemolytic Syndrome complicating a Delayed Hemolytic Transfusion Reaction due to anti-P1 alloimmunization, in a pregnant woman with HbO-Arabβ-thalassemia

    Directory of Open Access Journals (Sweden)

    Zoe Bezirgiannidou

    2016-10-01

    Full Text Available Abstract Background: Hyperhemolytic Syndrome or Hyperhemolytic Transfusion Reaction (HHTR, a life-threatening subset of Delayed Hemolytic Transfusion Reaction (DHTR is characterized by destruction of both transfused and autologous erythrocytes evidenced by a fall in post transfusion hemoglobin below the pre-transfusion level. Case report: We describe a case of DHTR due to anti-P1 alloimmunization manifesting with hyperhemolysis in a 30-year-old Greek Pomak woman with thalassemia intermedia (HbO-Arab/β-thalassemia, during the11th week of her first gestation. She was successfully managed with avoidance of further transfusions and administration of IVIG and corticosteroids. Conclusion: A high index of suspicion for HHTR is of vital importance among clinicians especially since optimal methods for its prevention and treatment remain yet to be defined. Early recognition of HHTR leading to prompt cessation of additional transfusions and initiation of immunosuppressive treatment can be life-saving, especially in clinical settings where limited therapeutic options are available, such as in pregnancy.

  13. Unique Preservation of Neural Cells in Hutchinson- Gilford Progeria Syndrome Is Due to the Expression of the Neural-Specific miR-9 MicroRNA

    Directory of Open Access Journals (Sweden)

    Xavier Nissan

    2012-07-01

    Full Text Available One puzzling observation in patients affected with Hutchinson-Gilford progeria syndrome (HGPS, who overall exhibit systemic and dramatic premature aging, is the absence of any conspicuous cognitive impairment. Recent studies based on induced pluripotent stem cells derived from HGPS patient cells have revealed a lack of expression in neural derivatives of lamin A, a major isoform of LMNA that is initially produced as a precursor called prelamin A. In HGPS, defective maturation of a mutated prelamin A induces the accumulation of toxic progerin in patient cells. Here, we show that a microRNA, miR-9, negatively controls lamin A and progerin expression in neural cells. This may bear major functional correlates, as alleviation of nuclear blebbing is observed in nonneural cells after miR-9 overexpression. Our results support the hypothesis, recently proposed from analyses in mice, that protection of neural cells from progerin accumulation in HGPS is due to the physiologically restricted expression of miR-9 to that cell lineage.

  14. Unique preservation of neural cells in Hutchinson- Gilford progeria syndrome is due to the expression of the neural-specific miR-9 microRNA.

    Science.gov (United States)

    Nissan, Xavier; Blondel, Sophie; Navarro, Claire; Maury, Yves; Denis, Cécile; Girard, Mathilde; Martinat, Cécile; De Sandre-Giovannoli, Annachiara; Levy, Nicolas; Peschanski, Marc

    2012-07-26

    One puzzling observation in patients affected with Hutchinson-Gilford progeria syndrome (HGPS), who overall exhibit systemic and dramatic premature aging, is the absence of any conspicuous cognitive impairment. Recent studies based on induced pluripotent stem cells derived from HGPS patient cells have revealed a lack of expression in neural derivatives of lamin A, a major isoform of LMNA that is initially produced as a precursor called prelamin A. In HGPS, defective maturation of a mutated prelamin A induces the accumulation of toxic progerin in patient cells. Here, we show that a microRNA, miR-9, negatively controls lamin A and progerin expression in neural cells. This may bear major functional correlates, as alleviation of nuclear blebbing is observed in nonneural cells after miR-9 overexpression. Our results support the hypothesis, recently proposed from analyses in mice, that protection of neural cells from progerin accumulation in HGPS is due to the physiologically restricted expression of miR-9 to that cell lineage.

  15. Huge bilateral ovarian cysts in adulthood as the presenting feature of Van Wyk Grumbach syndrome due to chronic uncontrolled juvenile hypothyroidism

    Directory of Open Access Journals (Sweden)

    K S Shivaprasad

    2013-01-01

    Full Text Available Juvenile primary hypothyroidism causing cystic ovaries and pseudoprecocious puberty (Van-Wyk Grumbach syndrome (VWGS is well documented in literature. There are only a few reports of primary hypothyroidism presenting as ovarian cysts in adults. Here we present a case of huge bilateral ovarian cysts in adulthood as the presenting feature of VWGS due to chronic uncontrolled juvenile hypothyroidism. Large uniloculor right ovarian cyst (119 × 81 × 90 mm and a multicystic left ovary (55 × 45 × 49 mm were detected in a 24 year lady with secondary amenorrhea, galactorrhea, and palpable abdominal mass with history of neonatal jaundice, delayed milestones, short stature, and precocious menarche at age of 7.5 years age. She had elevated levels of cancer antigen (CA-125 which normalized post levothyroxine supplementation. Elevated CA-125 may lead to misdiagnosis of ovarian carcinoma and inadvertent treatment. Bilateral ovarian cysts in adults are a rare presentation of juvenile hypothyroidism. It is necessary to screen for primary hypothyroidism in patients presenting with bilateral ovarian cysts to prevent unnecessary evaluation and treatment.

  16. Lenalidomide: a review of its use in patients with transfusion-dependent anaemia due to low- or intermediate-1-risk myelodysplastic syndrome associated with 5q chromosome deletion.

    Science.gov (United States)

    Syed, Yahiya Y; Scott, Lesley J

    2013-07-01

    Lenalidomide (Revlimid(®)), a thalidomide analogue, is an orally administered second generation immunomodulator with anti-angiogenic, antineoplastic, anti-inflammatory and pro-erythropoietic properties. It is approved for the treatment of patients with transfusion-dependent anaemia due to International Prognostic Scoring System low- or intermediate-1-risk myelodysplastic syndrome (MDS) associated with either chromosome 5q deletion [del(5q)] with or without additional cytogenetic abnormalities (US, Japan and Switzerland etc.), or with an isolated del(5q) cytogenetic abnormality when other therapeutic options are insufficient or inadequate (EU) [featured indication]. In a randomized, double-blind, multicentre, registrational trial (MDS-004; n = 205) in this patient population, a significantly higher proportion of lenalidomide recipients than placebo recipients achieved red blood cell transfusion independence for ≥26 consecutive weeks (primary endpoint for efficacy) and cytogenetic responses. The erythroid response to lenalidomide was accompanied by an increase in the haemoglobin levels. These efficacy outcomes are generally consistent with those seen in an earlier noncomparative registrational trial (MDS-003; n = 148). In MDS-004, lenalidomide also significantly improved health-related quality of life compared with placebo at 12 weeks. Retrospective analyses that compared outcomes between lenalidomide-treated patients with low- or intermediate-1-risk del(5q) MDS and multicentre registry cohorts showed that lenalidomide treatment did not appear to increase the risk of progression to acute myeloid leukaemia. Lenalidomide had a manageable safety profile in the registrational trials, with ≤20 % of patients discontinuing treatment because of adverse events. The most common adverse events (incidence ≥20 %) occurring in lenalidomide recipients were thrombocytopenia and neutropenia, which were generally managed by dosage reductions and/or interruptions, and

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

    Directory of Open Access Journals (Sweden)

    Faizan Mazhar

    2016-01-01

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

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

    Science.gov (United States)

    Akram, Shahzad; Haider, Nafis; Ahmed, Rafeeque

    2016-01-01

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

  19. Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe

    Directory of Open Access Journals (Sweden)

    Josef Finsterer

    2016-09-01

    Conclusion: Phenotypic manifestations of Carvajal syndrome are even broader than so far anticipated, the number of mutations in the desmoplakin gene responsible for Carvajal syndrome is still increasing, and these patients require implantation of an ICD as soon as their diagnosis is established.

  20. Methotrexate-induced side effects are not due to differences in pharmacokinetics in children with down syndrome and acute lymphoblastic leukemia

    NARCIS (Netherlands)

    T.D. Buitenkamp (Trudy); R.A.A. Mathôt (Ron); V. de Haas (Valerie); R. Pieters (Rob); C.M. Zwaan (Christian Michel)

    2010-01-01

    textabstractBackground Children with Down syndrome have an increased risk of developing acute lymphoblastic leukemia and a poor tolerance of methotrexate. This latter problem is assumed to be caused by a higher cellular sensitivity of tissues in children with Down syndrome. However, whether differen

  1. Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype

    NARCIS (Netherlands)

    Wischmeijer, A.; Laer, L. van; Tortora, G.; Bolar, N.A.; Camp, G. van; Fransen, E.; Peeters, N.; Bartolomeo, R. di; Pacini, D.; Gargiulo, G.; Turci, S.; Bonvicini, M.; Mariucci, E.; Lovato, L.; Brusori, S.; Ritelli, M.; Colombi, M.; Garavelli, L.; Seri, M.; Loeys, B.L.

    2013-01-01

    Recently, mutations in the SMAD3 gene were found to cause a new autosomal dominant aneurysm condition similar to Loeys-Dietz syndrome (LDS), mostly with osteoarthritis, called aneurysms-osteoarthritis syndrome (AOS). Our 3-year-old propositus underwent correction of an inguinal hernia at 3 months

  2. Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype

    NARCIS (Netherlands)

    Wischmeijer, A.; Laer, L. van; Tortora, G.; Bolar, N.A.; Camp, G. van; Fransen, E.; Peeters, N.; Bartolomeo, R. di; Pacini, D.; Gargiulo, G.; Turci, S.; Bonvicini, M.; Mariucci, E.; Lovato, L.; Brusori, S.; Ritelli, M.; Colombi, M.; Garavelli, L.; Seri, M.; Loeys, B.L.

    2013-01-01

    Recently, mutations in the SMAD3 gene were found to cause a new autosomal dominant aneurysm condition similar to Loeys-Dietz syndrome (LDS), mostly with osteoarthritis, called aneurysms-osteoarthritis syndrome (AOS). Our 3-year-old propositus underwent correction of an inguinal hernia at 3 months an

  3. Switch in FGFR3 and -4 expression profile during human renal development may account for transient hypercalcemia in patients with Sotos syndrome due to 5q35 microdeletions

    NARCIS (Netherlands)

    Mutsaers, Henricus A M; Levtchenko, Elena N; Martinerie, Laetitia; Pertijs, Jeanne C L M; Allegaert, Karel; Devriendt, Koenraad; Masereeuw, Roos; Monnens, Leo A H; Lombès, Marc

    2014-01-01

    CONTEXT: Sotos syndrome is a rare genetic disorder with a distinct phenotypic spectrum including overgrowth and learning difficulties. Here we describe a new case of Sotos syndrome with a 5q35 microdeletion, affecting the fibroblast growth factor receptor 4 (FGFR4) gene, presenting with infantile hy

  4. Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype

    NARCIS (Netherlands)

    Wischmeijer, A.; Laer, L. van; Tortora, G.; Bolar, N.A.; Camp, G. van; Fransen, E.; Peeters, N.; Bartolomeo, R. di; Pacini, D.; Gargiulo, G.; Turci, S.; Bonvicini, M.; Mariucci, E.; Lovato, L.; Brusori, S.; Ritelli, M.; Colombi, M.; Garavelli, L.; Seri, M.; Loeys, B.L.

    2013-01-01

    Recently, mutations in the SMAD3 gene were found to cause a new autosomal dominant aneurysm condition similar to Loeys-Dietz syndrome (LDS), mostly with osteoarthritis, called aneurysms-osteoarthritis syndrome (AOS). Our 3-year-old propositus underwent correction of an inguinal hernia at 3 months an

  5. Intussusception due to Peutz-Jeghers syndrome - a case report and review of the literature; Sindrome de Peutz-Jeghers e intussuscepcao - relato de um caso e revisao da literatura

    Energy Technology Data Exchange (ETDEWEB)

    Grasso Filho, Luiz Eduardo; Albertotti, Flavio; Carvalho, Claudio Sobral de; Nersessian, Ana Carolina; Docema, Marcos F. Lima; Ogasawara, Aparecida M.; Peng Yong Sheng [Hospital Sirio Libanes, Sao Paulo, SP (Brazil). Centro de Diagnostico por Imagem; Costacurta, Marco Antonio [Hospital Sirio Libanes, Sao Paulo, SP (Brazil). Servico de Radiologia Geral; Albertotti, Cesar Jose [Hospital Sirio Libanes, Sao Paulo, SP (Brazil). Servico de Tomografia Computadorizada; Cerri, Giovanni Guido [Hospital Sirio Libanes, Sao Paulo, SP (Brazil). Servico de Ultra-Som

    2000-02-01

    The authors report a case of a 28-year-old woman with ileocecocolic intussusception due to Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by hamartomatous polyposis of the gastrointestinal tract and mucocutaneous pigmentation. This condition frequently presents complications such as intestinal obstruction due to invagination or hemorrhage. In this patient, the diagnosis of intussusception was made preoperatively. The excised material revealed three large polyps which were considered to be the cause of the intussusception. (author)

  6. Fatal case of hemolytic-uremic syndrome in an adult due to a rare serogroup O91 Entero hemorrhagic Escherichia coli associated with a Clostridium difficile infection. More than meets the eye.

    Science.gov (United States)

    Guillard, Thomas; Limelette, Anne; Le Magrex-Debar, Elisabeth; Wynckel, Alain; Gouali, Malika; Mariani-Kurkdjian, Patricia; Guyot-Colosio, Charlotte; de Champs, Christophe

    2015-08-01

    Hemolytic-uremic syndrome due to enterohemorrhagic Escherichia coli, belonging to serogroup O91 has rarely been described. We report here a case of post-diarrheal HUS due to EHEC O91 in an elderly patient for whom diagnosis was delayed given a previously diagnosed C. difficile infection. This case highlights the usefulness of Shiga-toxin detection. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

  7. A three-generation family with terminal microdeletion involving 5p15.33-32 due to a whole-arm 5;15 chromosomal translocation with a steady phenotype of atypical cri du chat syndrome.

    Science.gov (United States)

    Elmakky, Amira; Carli, Diana; Lugli, Licia; Torelli, Paola; Guidi, Battista; Falcinelli, Cristina; Fini, Sergio; Ferrari, Fabrizio; Percesepe, Antonio

    2014-03-01

    Cri du chat syndrome is characterized by cat-like cry, facial dysmorphisms, microcephaly, speech delay, intellectual disability and slow growth rate, which are present with variable frequency. The typical cri du chat syndrome, due to 5p15.2 deletion, includes severe intellectual disability, facial dysmorphisms, neonatal hypotonia and pre- and post-natal growth retardation, whereas more distal deletions in 5p15.3 lead to cat-like cry and speech delay and produce the clinical picture of the atypical cri du chat syndrome, with minimal or absent intellectual impairment. In this article we report a three-generation family with an unbalanced whole arm translocation between chromosome 5 and 15 and a microdeletion of 5.5 Mb involving 5p15.33-32. By reporting the smallest terminal deletion of 5p15.3 described so far and by reviewing the literature we discuss the genotype/phenotype correlations of the distal region of the cri du chat syndrome. The previously described critical region for the speech delay may be narrowed down and microcephaly, growth retardation and dysmorphic facial features can be included in the phenotypic expression of the atypical cri du chat syndrome due to 5p15.3 deletions.

  8. Risk assessment of medically assisted reproduction and advanced maternal ages in the development of Prader-Willi syndrome due to UPD(15)mat.

    Science.gov (United States)

    Matsubara, K; Murakami, N; Fukami, M; Kagami, M; Nagai, T; Ogata, T

    2016-05-01

    Recent studies have suggested that disomic oocyte-mediated uniparental disomy 15 (UPD(15)mat) is increased in patients with Prader-Willi syndrome (PWS) born after medically assisted reproduction (MAR). However, it remains unknown whether the increase is primarily due to MAR procedure itself or advanced maternal childbearing ages as a predisposing factor for the disomic oocyte production. To examine this matter, we studied 122 naturally conceived PWS patients (PWS-NC group) and 13 MAR-conceived patients (PWS-MAR group). The relative frequency of disomic oocyte-mediated UPD(15)mat was significantly higher in PWS-MAR group than in PWS-NC group (7/13 vs 20/122, p = 0.0045), and the maternal childbearing ages were significantly higher in PWS-MAR group than in PWS-NC group [median (range), 38 (26-45) vs 30 (19-42), p = 0.0015]. However, the logistic regression analysis revealed no significant association between the occurrence of disomic oocyte-mediated UPD(15)mat and MAR, after adjusting for childbearing age (p = 0.25). Consistent with this, while the frequency of assisted reproductive technology (ART)-conceived livebirths was higher in the PWS patients than in the Japanese general population (6.4% vs 1.1%, p = 0.00018), the distribution of childbearing ages was significantly skewed to the increased ages in the PWS patients (p < 2.2 × 10(-16) ). These results argue against a positive association of MAR procedure itself with the development of UPD(15)mat.

  9. Real-world analysis of the Celgene Global Drug Safety database: early discontinuation of lenalidomide in patients with myelodysplastic syndromes due to non-serious rash

    Directory of Open Access Journals (Sweden)

    Weiss L

    2015-09-01

    Full Text Available Lilia Weiss,1 Dianna Gary,1 Arlene S Swern,2 John Freeman,1 Mary M Sugrue3 1Global Drug Safety, Celgene Corporation, Summit, 2Biometrics, Celgene Corporation, Berkeley Heights, 3Medical Affairs, Celgene Corporation, Summit, NJ, USA Background: Lenalidomide is approved for treating transfusion-dependent anemia due to lower-risk del(5q myelodysplastic syndromes (MDS. In clinical trials, rash was common, although severe rash was infrequent. To examine rash in patients with MDS treated with lenalidomide in the real world, the Celgene Global Drug Safety database was analyzed and compared with clinical trials.Materials and methods: Adverse event reports in the post-marketing setting and in the MDS-003/004 clinical trials were analyzed by action taken with lenalidomide, seriousness/grade, time to onset, and treatment duration.Results: Globally, 16,942 reports representing 36,793 adverse events from the post-marketing setting were submitted to the Global Drug Safety database between December 27, 2005 and June 13, 2013. Most rash adverse events were non-serious (Global Drug Safety database, 91% or grade 1/2 (MDS-003/004 trials, 87%–93%. Unexpectedly, rash, occurring at a median of 9 days after treatment initiation, was the leading cause of permanent discontinuation of lenalidomide. Seventy-two percent of non-serious rash adverse events led to early permanent discontinuation within two cycles, while in the MDS-003/004 pivotal clinical trials, only 2%–3% of rash adverse events led to permanent discontinuation.Conclusion: Non-serious rash was the most common reason for permanent discontinuation of lenalidomide in real-world settings. Managing lenalidomide-related rash using published recommendations might improve treatment duration and optimize patient outcomes. Keywords: adverse events, safety, post-marketing setting 

  10. Long-term effect of extracorporeal shock wave therapy on the treatment of chronic pelvic pain syndrome due to non bacterial prostatitis

    Directory of Open Access Journals (Sweden)

    Amir Moayednia

    2014-01-01

    Full Text Available Background: There is limited evidence about the chronic pelvic pain syndrome (CPPS treatment by shockwave therapy, and the aim of this study was to evaluate the effect of extracorporeal shockwave therapy on CPPS due to non bacterial prostatitis in a long-term period. Materials and Methods: In a follow-up survey, 40 patients with CPPS (that were randomly distributed into the treatment or sham groups were evaluated at 16, 20, and 24 weeks. In the treatment group, patients were treated by extracorporeal shock wave therapy (ESWT once a week for 4 weeks by a protocol of 3000 impulses, 0.25 mJ/m 2 and 3 Hz of frequency. 0.05 mJ/m 2 were added in each week. In the sham group, the same protocol was applied, but with the probe being turned off. The follow-up assessments were done by visual analog scale for pain and National Institutes of Health-developed Chronic Prostatitis Symptom Index (NIH-CPSI. Data were compared using independent t-test or analysis of variences. Results: Three patients did not complete the study protocol, 37 patients were evlauated (19 patients in treatment and 18 patients in the sham group. At week 24, the mean of pain score, urinary score, quality-of-life and NIH-CPSI score between two groups were not statistically different. Conclusion: Although, ESWT therapy as a safe and effective therapy in CPPS in short-term follow-up has been established, its long-term efficacy was not supported by this study.

  11. Budd-Chiari and inferior caval vein syndromes due to membranous obstruction of the liver veins. Successful treatment with angioplasty and transcaval TIPS

    DEFF Research Database (Denmark)

    Holland-Fischer, Peter

    2004-01-01

    -up the stents remain open and the patient is symptom free. This successful combination of stent placement and TIPS has not been described before. The case report is followed by a review of the literature on the use of angioplasty in short hepatic vein stenosis and TIPS in Budd-Chiari syndrome. It is concluded...... that angioplasty and TIPS are safe and efficient procedures to reduce liver engorgement and complications of portal hypertension in selected patients with Budd-Chiari syndrome....

  12. Swallowing therapy--a prospective study on patients with neurogenic dysphagia due to unilateral paresis of the vagal nerve, Avellis' syndrome, Wallenberg's syndrome, posterior fossa tumours and cerebellar hemorrhage.

    Science.gov (United States)

    Prosiegel, M; Höling, R; Heintze, M; Wagner-Sonntag, E; Wiseman, K

    2005-01-01

    No studies exist dealing with the outcome of dysphagic patients with posterior fossa (IV. ventricle) tumours (PFT) or cerebellar hemorrhage (CH), and the outcome of patients with Wallenberg's syndrome (WS) after functional swallowing therapy (FST) has so far not been studied in detail. Patients and methods. 208 patients with neurogenic dysphagia (ND) who were consecutively admitted for functional swallowing therapy (FST) over a 3 year period to our hospital were examined clinically, by use of a videofluoroscopic swallowing study (VFSS) and/or fibreoptic evaluation of swallowing (FEES). The most frequent etiology was stroke (48%), followed by CNS tumours (13%). In the present study we defined three groups. Group 1 comprised 8 patients with PFT or CH. Group 2 consisted of 27 patients with WS, which was the leading cause among patients with non-hemispheric stroke. Since in WS a vagal nerve paresis due to affection of the Nucleus ambiguus occurs, 8 patients with Avellis' syndrome or unilateral paresis of the vagal nerve served as controls and were defined as group 3. Findings. In the three groups, functional feeding status showed significant improvement after FST comprising methods of restitution, compensation and adaptation, each of which were applied in more than 80% of patients. Outcome was, however, significantly worse in group 1 as compared to group 2 and in group 2 as compared to group 3. Dysfunction of the upper esophageal sphincter and reflex triggering were significantly more severely disturbed in groups 1 and 2 as compared to group 3. Group 1 showed significantly more severe disturbances of the oral phase as compared to groups 2 and 3. After FST, more than 50% (5/8) of group 1 and 30% (8/27) of WS patients (group 2) were dependent on tube feeding, whereas all patients of group 3 were full-oral feeders. Interpretation. This is the first study dealing with the outcome of dysphagic patients with PFT or CH. Based on our results it can be assumed that in these

  13. Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH deficiency that causes Leigh-like disease and ketoacidosis

    Directory of Open Access Journals (Sweden)

    Kenichiro Yamada

    2014-01-01

    Full Text Available 3-Hydroxyisobutyryl-CoA hydrolase (HIBCH deficiency is an autosomal recessive disorder characterized by episodes of ketoacidosis and a Leigh-like basal ganglia disease, without high concentrations of pyruvate and lactate in the cerebrospinal fluid. Only 4 cases of HIBCH deficiency have been reported. However, clinical–biochemical correlation in HIBCH deficiency by determining the detailed residual enzyme activities has not yet been elucidated. Here, we report a case of two Japanese siblings with HIBCH deficiency carrying a new homozygous missense mutation (c.287C > A, [p.A96D] at the substrate-binding site. A transfection study using HIBCH expression vectors harboring wild type or 4 reported mutations, including the newly identified mutation (p.A96D, p.Y122C, p.G317E, and p.K74Lfs*13, revealed a correlation between residual HIBCH activities and the severity of the disease. All HIBCH mutants, except p.K74Lfs*13, showed residual enzyme activity and only the patient with p.K74Lfs*13 had congenital anomalies. p.G317E showed only low enzyme activity (~3% of that of wild-type HIBCH. Although p.A96D had approximately 7 times higher enzyme activity than p.G317E, patients with p.A96D died during childhood. These findings are essential for clinical management, genetic counseling, and specific meal and concomitant drug considerations as part of the treatment for patients with HIBCH deficiency.

  14. Endogenous Cushing’s Syndrome with Precocious Puberty in an 8-Year-Old Boy due to a Large Unilateral Adrenal Adenoma

    Directory of Open Access Journals (Sweden)

    Muhammad Rajib Hossain

    2013-01-01

    Full Text Available Adrenocortical tumors (ACTs causing Cushing’s syndrome are extremely rare in children and adolescents. Bilateral macronodular adrenocortical disease which is a component of the McCune-Albright syndrome is the most common cause of endogenous Cushing’s syndrome. We report the case of a boy with Cushing’s syndrome who presented with obesity and growth retardation. The child was hypertensive. The biochemical evaluation revealed that his serum cortisol levels were 25.80 g/dL, with a concomitant plasma ACTH level of 10.0 pg/mL and nonsuppressed serum cortisol on high-dose dexamethasone suppression test (HDDST to be 20.38 g/dL. Computed tomography of the abdomen demonstrated a 8 × 6 × 5 cm left adrenal mass with internal calcifications. Following preoperative stabilization, laparotomy was carried out which revealed a lobulated left adrenal mass with intact capsule weighing 120 grams. Histopathological examination revealed a benign cortical neoplastic lesion, suggestive of adrenal adenoma; composed of large polygonal cells with centrally placed nuclei and prominent nucleoli without capsular and vascular invasion. On the seventh postoperative day, cortisol levels were within normal range indicating biochemical remission of Cushing’s syndrome. On followup after three months, the patient showed significant clinical improvement and had lost moderate amount of weight and adrenal imaging was found to be normal.

  15. Lemierre's syndrome due to community-acquired meticillin-resistant Staphylococcus aureus infection and presenting with orbital cellulitis: a case report

    Directory of Open Access Journals (Sweden)

    Kadhiravan Tamilarasu

    2008-12-01

    Full Text Available Abstract Introduction Lemierre's syndrome is septic thrombophlebitis of the internal jugular vein leading to metastatic septic complications following an oropharyngeal infection. It is usually caused by the anaerobe, Fusobacterium necrophorum. Of late, meticillin-resistant Staphylococcus aureus is increasingly being recognised as a cause of community-acquired skin and soft tissue infections. We report a rare case of Lemierre's syndrome caused by community-acquired meticillin-resistant Staphylococcus aureus infection. Case presentation A previously healthy 16-year-old girl presented with fever of 13 days duration, painful swelling around the right eye and diplopia followed by the appearance of pulmonary infiltrates. Imaging studies confirmed the clinical suspicion of bilateral jugular venous thrombosis with septic pulmonary embolism. Meticillin-resistant Staphylococcus aureus was isolated on blood cultures. The hospital course was complicated by massive haemoptysis and pulmonary aspiration necessitating mechanical ventilation. The patient subsequently made a complete recovery. Conclusion Lemierre's syndrome, although rare, is a potentially lethal but treatable complication of head and neck sepsis. Early clinical recognition of Lemierre's syndrome and appropriate antibiotic treatment can be life-saving. One should consider the possibility of community-acquired meticillin-resistant Staphylococcus aureus infection in patients with suspected Lemierre's syndrome.

  16. Subclinical Cushing's syndrome due to unilateral or bilateral adrenal incidentalomas. Problems of diagnostic and indication to surgical treatment. Review of literature

    Directory of Open Access Journals (Sweden)

    Nikolay Sergeevich Kuznetsov

    2015-05-01

    Full Text Available Today subclinical Cushing's syndrome is the most widespread variant of hormonal activity of incidentaloma's hormonal activity. This pathology is defined as a mild intensity autonomous cortisol hypersecretion, not causing specific clinical signs of hypercorticism, but detectable biochemically as derangements of the hypothalamic-pituitary-adrenal axis function. Some clinical symptomatology of metabolic syndrome, such as obesity, impaired carbohydrate metabolism and hypertension, are peculiar to subclinical hypercorticism more than to population. As a result all these symptomatology could lead to increasing cardiovascular risk. Till now there isn't a definite opinion about the need of surgical treatment of present pathology. But there is evidence, that after removing of incidentalomas clinical symptomatology of metabolic syndrome are improving. For understanding all possible risks, connected with subclinical hypercorticism, it's necessary to study the origins of their arising and present about the most adequate screening tests. 

  17. Upper esophageal web due to a ring formed by a squamocolumnar junction with ectopic gastric mucosa (another explanation of the Paterson-Kelly, Plummer-Vinson syndrome).

    Science.gov (United States)

    Weaver, G A

    1979-12-01

    A patient is presented with Barrett's esophagus (lower esophagus lined with columnar epithelium) who also has a band of columnar epithelium in the upper esophagus separated from that below by normal squamous epithelium in the midesophagus. The upper most squamocolumnar junction coincided with or formed a mucosal ring as seen at endoscopy. This ring, which was first seen on barium swallow, has the radiographic appearance of that associated with the Paterson-Kelly syndrome. This patient's unique findings may provide further insight into the etiology of upper esophageal webs or rings (Paterson-Kelly syndrome).

  18. Central Anticholinergic Syndrome due to Hypoxia-Induced Bradycardia in a Child with Difficult Intubation Undergoing Complete Dental Restoration: A Case Report.

    Science.gov (United States)

    Gharavifard, Mohamad; Razavi, Majid; Ghandehari Motlagh, Mehdi; Ziyaeifard, Mohsen

    2014-09-01

    Central anticholinergic syndrome (CAS) following general anesthesia (GA) is a well known syndrome in children and adults. Many cases of CAS have been previously reported in the literature. However, there are only two reports of post resuscitation CAS after administration of small doses of atropine. Hereby, we report a case of CAS in a child undergoing complete dental restoration under GA after receiving a small dose of atropine to reverse hypoxia induced bradycardia. Intraoperative events such as hypoxia or cardiac arrest may play a role as triggers for CAS. However, we cannot establish a causal relationship between the occurrence of CAS and such critical events.

  19. Central Anticholinergic Syndrome due to Hypoxia-Induced Bradycardia in a Child with Difficult Intubation Undergoing Complete Dental Restoration: A Case Report.

    Directory of Open Access Journals (Sweden)

    Mohamad Gharavifard

    2014-10-01

    Full Text Available Central anticholinergic syndrome (CAS following general anesthesia (GA is a well known syndrome in children and adults. Many cases of CAS have been previously reported in the literature. However, there are only two reports of post resuscitation CAS after administration of small doses of atropine. Hereby, we report a case of CAS in a child undergoing complete dental restoration under GA after receiving a small dose of atropine to reverse hypoxia induced bradycardia. Intraoperative events such as hypoxia or cardiac arrest may play a role as triggers for CAS. However, we cannot establish a causal relationship between the occurrence of CAS and such critical events.

  20. Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro)

    DEFF Research Database (Denmark)

    Yuca, Sevil Ari; Rendtorff, Nanna Dahl; Boulahbel, Houda

    2012-01-01

    Wolfram syndrome, also named "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is an inherited association of juvenile-onset diabetes mellitus and optic atrophy as key diagnostic criteria. Renal tract abnormalities and neurodegenerative disorder may occur in the thir...

  1. MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.

    NARCIS (Netherlands)

    Frints, S.G.; Lenzner, S.; Bauters, M.; Jensen, L.R.; Esch, H. van; Portes, V. des; Moog, U.; Macville, M.V.; Roozendaal, K. van; Schrander-Stumpel, C.T.; Tzschach, A.; Marynen, P.; Fryns, J.P.; Hamel, B.C.J.; Bokhoven, H. van; Chelly, J.; Beldjord, C.; Turner, G.; Gecz, J.; Moraine, C.; Raynaud, M.; Ropers, H.H.; Froyen, G.; Kuss, A.W.

    2008-01-01

    Mutations in the thyroid monocarboxylate transporter 8 gene (MCT8/SLC16A2) have been reported to result in X-linked mental retardation (XLMR) in patients with clinical features of the Allan-Herndon-Dudley syndrome (AHDS). We performed MCT8 mutation analysis including 13 XLMR families with LOD scores

  2. Somatostatin analogues do not affect calcium metabolism in patients with acromegaly and primary hyperparathyroidism [corrected] due to MEN 1-like syndrome.

    Science.gov (United States)

    Bogazzi, F; Lombardi, M; Russo, D; Sardella, C; Raggi, F; Brogioni, S; Cetani, F; Ceccarelli, C; Mariani, G; Basolo, F; Martino, E

    2011-02-01

    Patients with clinical features of MEN 1 without mutations in the menin gene fulfill the criteria of MEN1-like syndrome. Primary hyperparathyroidism (PHP) is the most frequent clinical finding in both syndromes and is usually treated by surgery. However, PHP has been reported to respond to somatostatin analogues (SSA) in MEN 1 patients. 7 patients with PHP in the context of MEN 1-like syndrome (and absence of mutations in the menin gene) were enrolled in the study and treated with SSA for 6 months for the non-PHP disease before parathyroidectomy. Serum ionized calcium, phosphorus, and PTH concentrations, and 24-h urinary calcium and phosphorus excretion were measured before and after SSA therapy. Mean serum ionized calcium, phosphorus, and PTH concentrations did not significantly change after a 6-month course with SSA. SSA scintigraphy did not reveal uptake in the neck region corresponding to the parathyroid adenoma identified at surgery and confirmed at histology. However, immunohistochemistry revealed SS-type 2A receptor in parathyroid tissue samples of 6 out of 7 patients. SSA therapy does not affect calcium-phosphorus metabolism in patients with MEN 1-like syndrome, suggesting that the drug has no role in controlling PHP in these subset of patients.

  3. Complete androgen insensitivity syndrome due to a new frameshift deletion in exon 4 of the androgen receptor gene: Functional analysis of the mutant receptor

    NARCIS (Netherlands)

    J.M. Lobaccaro; S. Lumbroso; N. Poujol (Nicolas); V. Georget; A.O. Brinkmann (Albert); G. Malpuech (Georges); C. Sultan

    1995-01-01

    textabstractWe studied the androgen receptor gene in a large kindred with complete androgen insensitivity syndrome and negative receptor-binding activity, single-strand conformation polymorphism (SSCP) analysis and sequencing identified a 13 base pair deletion within exon 4. This was responsible for

  4. Extremely low exposure of a community to severe acute respiratory syndrome coronavirus: false seropositivity due to use of bacterially derived antigens.

    NARCIS (Netherlands)

    Leung, D.T.; Maren, W.W.C. van; Chan, F.K.; Chan, W.S.; Lo, A.W.; Ma, C.H.; Tam, F.C.; To, K.F.; Chan, P.K.; Sung, J.J.; Lim, P.L.

    2006-01-01

    Estimates of seropositivity to a new infectious agent in a community are useful to public health. For severe acute respiratory syndrome (SARS), the figures are conflicting. Herein, we screened 12,000 people in a community stricken by SARS 10 months previously and found 53 individuals (0.44%) who had

  5. TREATMENT OF SLEEP APNEA SYNDROME DUE TO ANKYLOSIS OF TMJ USING ORTHOGNATHIC SURGERY TECHNIQUE%正颌外科技术治疗TMJ后OSAS

    Institute of Scientific and Technical Information of China (English)

    于擘; 顾晓明; 张良; 门志光

    2002-01-01

    Objective To evaluate orthognathic surgery in the treatment of sleep apnea syndrome (SAS) resulted from ankylosis of TMJ. Methods Firstly, the arthroplasty was carried out to relieve the TMJ ankylosis and to open mouth according to design. The mandibles of 14 patients with SAS were advanced by "L"-osteotomy of ramus at the affected side and a sagittal split ramus osteotomy at normal side combined with TMJ arthroplasty. Results After operation, maximal mouth opening of the 14 patients reached 2.5cm-3.5cm. The follow-up 2 years later showed the maximal mouth opening was kept between 2.5cm and 3.2cm. AHI of all the patients were less than 20 postoperatively. Snoring while asleep disappeared in 12 patients and their SaO2 increased by 18.45% in average (P<0.01), which fell into the normal range. No patients were waken up by suffocation. Continuous SaO2 increased from 58% to over 95% in average. Conclusion The obstruction of the upper airway can be relieved through orthognathic surgery. Thus the hypoxemia of the patients was relieved or corrected. This technique is effective in the treatment of SAS due to TMJ ankylosis.%目的评估正颌外科技术矫治14例颞颌关节强直所致OSAS的效果.方法手术采用患侧关节成形,下颌升支、体部的"L"形半层截骨及健侧矢状截骨术,将患侧下颌升支加高固定,下颌前部整体前移.结果 14例颞颌关节强直伴OSAS患者术后张口度达2.5~3.5cm,术后2年随访张口度仍维持在2.5~3.2cm之间.所有患者的AHI指数下降了20以上,12例患者的打鼾症状消失,持续血氧饱和度平均提高了18.45%(P<0.01),达到了正常人的范围,持续血氧饱和度最低值由术前的58%提高至术后的95%以上,OSAS得以治愈.结论颞颌关节强直伴OSAS患者通过正颌外科手术可以在关节成形的同时,解决患者下颌后缩的缺陷,解除上气道狭窄,从而缓解或纠正患者的低氧血症.

  6. Upper gastrointestinal bleed in a post menopausal woman due to combination of high first dose aspirin and clopidogrel prescribed for acute coronary syndrome.

    Science.gov (United States)

    Tandon, Vishal R; Maqbool, Rubeena; Kahkashan, Iram; Sharma, Rashmi; Khajuria, Vijay; Gillani, Zahid

    2015-01-01

    Combination of aspirin, clopidogrel and enoxaparin remains the standard treatment for acute coronary syndrome (ACS) but is known to increase the incidence of upper gastrointestinal bleed (UGIB). We hereby report an unusual case of gastrointestinal bleed (GIB) as it resulted inspite of proton pump inhibitor (PPI) prophylaxis within the second day of treatment in a post-menopausal woman (PMW) with high first dose of aspirin clopidogrel dual combination in a patient of ACS.

  7. Upper gastrointestinal bleed in a post menopausal woman due to combination of high first dose aspirin and clopidogrel prescribed for acute coronary syndrome

    Directory of Open Access Journals (Sweden)

    Vishal R Tandon

    2015-01-01

    Full Text Available Combination of aspirin, clopidogrel and enoxaparin remains the standard treatment for acute coronary syndrome (ACS but is known to increase the incidence of upper gastrointestinal bleed (UGIB. We hereby report an unusual case of gastrointestinal bleed (GIB as it resulted inspite of proton pump inhibitor (PPI prophylaxis within the second day of treatment in a post-menopausal woman (PMW with high first dose of aspirin clopidogrel dual combination in a patient of ACS.

  8. Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)

    Science.gov (United States)

    Haer-Wigman, Lonneke; Newman, Hadas; Leibu, Rina; Bax, Nathalie M.; Baris, Hagit N; Rizel, Leah; Banin, Eyal; Massarweh, Amir; Roosing, Susanne; Lefeber, Dirk J.; Zonneveld-Vrieling, Marijke N.; Isakov, Ofer; Shomron, Noam; Sharon, Dror; Den Hollander, Anneke I.; Hoyng, Carel B.; Cremers, Frans P.M.; Ben-Yosef, Tamar

    2015-01-01

    Retinitis pigmentosa (RP), the most common form of inherited retinal degeneration, is clinically and genetically heterogeneous and can appear as syndromic or non-syndromic. Mucopolysaccharidosis type IIIC (MPS IIIC) is a lethal disorder, caused by mutations in the heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT) gene and characterized by progressive neurological deterioration, with retinal degeneration as a prominent feature. We identified HGSNAT mutations in six patients with non-syndromic RP. Whole exome sequencing (WES) in an Ashkenazi Jewish Israeli RP patient revealed a novel homozygous HGSNAT variant, c.370A>T, which leads to partial skipping of exon 3. Screening of 66 Ashkenazi RP index cases revealed an additional family with two siblings homozygous for c.370A>T. WES in three Dutch siblings with RP revealed a complex HGSNAT variant, c.[398G>C; 1843G>A] on one allele, and c.1843G>A on the other allele. HGSNAT activity levels in blood leukocytes of patients were reduced compared with healthy controls, but usually higher than those in MPS IIIC patients. All patients were diagnosed with non-syndromic RP and did not exhibit neurological deterioration, or any phenotypic features consistent with MPS IIIC. Furthermore, four of the patients were over 60 years old, exceeding by far the life expectancy of MPS IIIC patients. HGSNAT is highly expressed in the mouse retina, and we hypothesize that the retina requires higher HGSNAT activity to maintain proper function, compared with other tissues associated with MPS IIIC, such as the brain. This report broadens the spectrum of phenotypes associated with HGSNAT mutations and highlights the critical function of HGSNAT in the human retina. PMID:25859010

  9. Complete androgen insensitivity syndrome due to a new frameshift deletion in exon 4 of the androgen receptor gene: Functional analysis of the mutant receptor

    OpenAIRE

    Lobaccaro, J.M.; Lumbroso, S.; Poujol, Nicolas; Georget, V.; Brinkmann, Albert; Malpuech, Georges; Sultan, C.

    1995-01-01

    textabstractWe studied the androgen receptor gene in a large kindred with complete androgen insensitivity syndrome and negative receptor-binding activity, single-strand conformation polymorphism (SSCP) analysis and sequencing identified a 13 base pair deletion within exon 4. This was responsible for a predictive frameshift in the open reading frame and introduction of a premature stop codon at position 783 instead of 919. The deletion was reproduced in androgen receptor wildtype cDNA and tran...

  10. Oral Alendronate Treatment for Severe Polyostotic Fibrous Dysplasia due to McCune-Albright Syndrome in a Child: A Case Report

    Directory of Open Access Journals (Sweden)

    Silva IvaniNovato

    2010-09-01

    Full Text Available Polyostotic fibrous dysplasia (FD associated to McCune-Albright Syndrome (MAS often leads to fractures, deformities, and bone pain resulting in bad quality of life. Parenteral bisphosphonates have been used in children and adolescents to improve these symptoms with few adverse effects. We evaluated the response to oral Alendronate in a girl with severe MAS FD and observed improved quality of life with reduction of bone pain.

  11. ["Eosinophilia-myalgia" syndrome due to L-tryptophan containing products. Cooperative evaluation of French Regional Centers of Pharmacovigilance. Analysis of 24 cases].

    Science.gov (United States)

    Castot, A; Bidault, I; Bournerias, I; Carlier, P; Efthymiou, M L

    1991-01-01

    By November 17, 1989, the MMWR published the 154 first reports of a syndrome consisting of myalgia and eosinophilia (EMS), occurring with the consumption of L-tryptophan containing products (L-TrpCp) and which might represent a new clinical entity. To standardize reporting over the country, the CDC of Atlanta developed the following case definition: 1) a peripheral blood total eosinophil count of more than 1 x 10(9) cells per liter 2) generalized myalgia sufficiently severe to affect a patient's ability to pursue daily activities 3) the exclusion of infections or neoplastic conditions. The FDA then, announced its intention to seek a nationwide recall of all tryptophan containing products, followed by other european countries (UK, Germany, France). In France, a first decree (January 4th 1990) completed by a decree on May 11th confirms this decision for one year. This measure did not concern the medicinal products or some dietary supplements for newborn or young children. Since December 11th, 1989, 24 cases have been reported to the Regional Adverse Drug Reaction Monitoring Centres in France. These cases share the same features as the cases notified previously in the USA: overrepresentation of females, no relationship with the time and the daily intake, clinical similarities to the Shulman syndrome, and unknown prognosis. Now, more than one year after the onset of this illness, it seems that discontinuation of the ingestion of L-TrpCp can resolve or improve the symptoms in most cases, but sometimes the syndrome can persist. The causal relationship between the ingestion of L-TrpCp and this syndrome has been established. Whatever the mechanism for the development of EMS among tryptophan users remains unclear, as well as the role of eosinophilia and the factors for fibroblast proliferation. The epidemic emergence of this syndrome in July 89 raises the possibility of the contamination of tryptophan during the manufacturing process. To confirm this hypothesis, the same

  12. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine; Bødtger, Uffe; Heltberg, Ole

    2014-01-01

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

  13. Is the drug-induced hypersensitivity syndrome (DIHS due to human herpesvirus 6 infection or to allergy-mediated viral reactivation? Report of a case and literature review

    Directory of Open Access Journals (Sweden)

    Borgia Guglielmo

    2010-03-01

    Full Text Available Abstract Background Drug-Induced Hypersensitivity Syndrome (DIHS is a severe and rare systemic reaction triggered by a drug (usually an antiepileptic drug. We present a case of DISH and we review studies on the clinical features and treatment of DIHS, and on its pathogenesis in which two elements (Herpesvirus infection and the drug interact with the immune system to trigger such a syndrome that can lead to death in about 20% of cases. Case presentation We report the case of a 26-year old woman with fever, systemic maculopapular rash, lymphadenopathy, hepatitis and eosinophilic leukocytosis. She had been treated with antibiotics that gave no benefit. She was taking escitalopram and lamotrigine for a bipolar disease 30 days before fever onset. Because the patient's general condition deteriorated, betamethasone and acyclovir were started. This treatment resulted in a mild improvement of symptoms. Steroids were rapidly tapered and this was followed with a relapse of fever and a worsening of laboratory parameters. Human herpesvirus 6 (HHV-6 DNA was positive as shown by PCR. Drug-Induced Hypersensitivity Syndrome (DIHS was diagnosed. Symptoms regressed on prednisone (at a dose of 50 mg/die that was tapered very slowly. The patient recovered completely. Conclusions The search for rare causes of fever led to complete resolution of a very difficult case. As DIHS is a rare disease the most relevant issue is to suspect and include it in differential diagnosis of fevers of unknown origin. Once diagnosed, the therapy is easy (steroidal administration and often successful. However our case strongly confirms that attention should be paid on the steroidal tapering that should be very slow to avoid a relapse.

  14. A case of pathology-proven neuromyelitis optica spectrum disorder with Sjögren syndrome manifesting aphasia and apraxia due to a localized cerebral white matter lesion.

    Science.gov (United States)

    Sawada, Jun; Orimoto, Ryosuke; Misu, Tatsuro; Katayama, Takayuki; Aizawa, Hitoshi; Asanome, Asuka; Takahashi, Kae; Saito, Tsukasa; Anei, Ryogo; Kamada, Kyousuke; Miyokawa, Naoyuki; Takahashi, Toshiyuki; Fujihara, Kazuo; Hasebe, Naoyuki

    2014-09-01

    A woman with Sjögren syndrome manifesting as aphasia with a left deep cerebral white matter lesion tested positive for anti-aquaporin 4 (AQP4) antibody. Open biopsy of the lesion revealed active demyelination with edematous changes and the preservation of most axons, indicating a non-necrotic demyelinating lesion. Immunostaining for AQP4 was diffusely lost, whereas the loss of glial fibrillary acidic protein immunostaining was limited but with highly degenerated astrocytic foot processes in perivascular areas. These results suggested neuromyelitis optica spectrum disorder (NMOSD) pathology rather than Sjögren-related vasculitis. Only cerebral cortical symptoms with a cerebral white matter lesion could be observed in NMOSDs.

  15. Spontaneous Retroperitoneal Hemorrhage (Wunderlich Syndrome due to Large Upper Pole Renal Angiomyolipoma: Does Robotic-Assisted Laparoscopic Partial Nephrectomy Have a Role in Primary Treatment?

    Directory of Open Access Journals (Sweden)

    Achilles Ploumidis

    2013-01-01

    Full Text Available Spontaneous rapture with consequent retroperitoneal hemorrhage (Wunderlich’s syndrome is the complication mostly feared from large renal angiomyolipomas (RAMLs. In hemodynamic stable patients, minimal invasive therapies have superseded open surgery as the mainstay of treatment, with contemporary cases mostly treated by selective arterial embolization. Robotic-assisted laparoscopic partial nephrectomy (RALPN is an established minimal access treatment that has been used in the past for benign and malignant lesions of the kidney in the elective setting, but rarely in urgent situations as primary treatment. We present a case of a ruptured RAML in a young female treated effectively by RALPN.

  16. Use Of Noninvazive Positive Pressure Ventilation in a Case of Diffuse Alveolar Hemorrhage Due to Goodpasture%u2019s Syndrome

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    Bunyamin Sertogullarindan

    2014-03-01

    Full Text Available Antiglomerular basement membrane antibody disease is manifested by progressive glomerulonephritis, intraalveolar hemorrhage and antiglomerular basement membrane antibodies. It is frequently characterized by mortality. We present a case of a 18 year-old  young showing remission by early diagnosis. The patient was admitted to emergency department with symptoms and findings of atypic pneumonia with bloody sputum. Chest radiography detected patchy alveolar opacities (Figure A. An ampric antibacterial treatment was given including macrolide, and bronchodilators because of bronchospasm. The patient was suspected for goodpasture’s syndrome (GPS. Anti-glomerular basement membrane (AGBM antibodies test was send. He developed massive alveolar haemorrhage in the resolution phase of atypic pneumonia. Laboratory examination revealed proteinuria of 20 mg/ dl, anemia Hb of 8 g/dl, hematocrit of 25%, microscopic hematuria of 350 erythrocite /HPF. AGBM antibodies was found as positive. GPS was diagnosed. Early immunosuppressive treatment with pulse methylprednisolone and cyclophosphamide and plazmaferez was started. Noninvasive positive pressure ventilation (NPPV was used for severe hypoxemia. Haemolytic anemia and thrombocytopenia developed under plasmaphresis treatment. Early treatment resulted with remmission. In conclusion, the current case showed that Goodpasture’s syndrome may have a favorable prognosis with early diagnosis and proper treatments including NPPV.

  17. Postmortem diagnosis of Marfan syndrome in a case of sudden death due to aortic rupture: Detection of a novel FBN1 frameshift mutation.

    Science.gov (United States)

    Wang, Yunyun; Chen, Shu; Wang, Rongshuai; Huang, Sizhe; Yang, Mingzhen; Liu, Liang; Liu, Qian

    2016-04-01

    To investigate the sudden death of a 36-year-old Chinese man, a medicolegal autopsy was performed, combining forensic pathological examinations and genetic sequencing analysis to diagnose the cause of death. Genomic DNA samples were extracted from blood and subjected to high-throughput sequencing. Major findings included a dilated aortic root with a ruptured and dissected aorta and consequent tamponade of the pericardial sac. Moreover, arachnodactyly and other skeletal deformities were noted. By sequencing the fibrillin-1 gene (FBN1), five genetic variations were found, including four previously known single nucleotide polymorphisms (SNPs) and a novel frameshift mutation, leading to the diagnosis of Marfan syndrome. The frameshift mutation (c.4921delG, p.glu1641llysFsX9) detected in exon 40 led to a stop codon after the next 8 amino acids. The four SNPs included a splice site mutation (c.3464-5 G>A, rs11853943), a synonymous mutation (p.Asn625Asn, rs25458), and two missense mutations (p.Pro1148Ala, rs140598; p.Cys472Tyr, rs4775765). Genetic screening was recommended for the relatives as it was reported that the father and brother of the deceased had died at the ages of 40 and 25, respectively, from sudden cardiac failure. The son of the deceased lacked the relevant mutations. This report emphasizes the important contribution of medicolegal postmortem analysis on the molecular pathogenesis study of Marfan syndrome and early diagnosis of at-risk relatives.

  18. Autoimmune lymphoproliferative syndrome due to somatic FAS mutation (ALPS-sFAS) combined with a germline caspase-10 (CASP10) variation.

    Science.gov (United States)

    Martínez-Feito, Ana; Melero, Josefa; Mora-Díaz, Sergio; Rodríguez-Vigil, Carmen; Elduayen, Ramón; González-Granado, Luis I; Pérez-Méndez, Dolores; Sánchez-Zapardiel, Elena; Ruiz-García, Raquel; Menchén, Miguela; Díaz-Madroñero, Josefa; Paz-Artal, Estela; Del Orbe-Barreto, Rafael; Riñón, Marta; Allende, Luis M

    2016-01-01

    Autoimmune lymphoproliferative syndrome (ALPS) is a primary immunodeficiency caused by impaired Fas/FasL-mediated apoptosis of lymphocytes and is characterized by chronic nonmalignant or benign lymphoproliferation, autoimmune manifestations and expansion of double negative (DN) T-cells (TCRαβ+CD4-CD8-). Most cases of ALPS are associated with germline (ALPS-FAS) or somatic (ALPS-sFAS) heterozygous FAS mutations or a combination of both. Here we report three unrelated patients with ALPS-sFAS. Only one of them showed impaired Fas function in PHA-activated T-cells. In this patient, the genetic analysis of the caspase-10 gene (CASP10) identified a heterozygous germline change in exon 9 (c.1337A>G) causing Y446C substitution in the caspase-10 protein. In addition, this patient had a dysregulated T- and B-cell phenotype; circulating lymphocytes showed expansion of T effector memory CD45RA+ (TEMRA) CD4 T-cells, effector memory CD8 T-cells, CD21(low) B-cells and reduced memory switched B-cells. Additionally, this patient showed altered expression in T-cells of several molecules that change during differentiation from naïve to effector cells (CD27, CD95, CD57 and perforin). Molecular alterations in genes of the Fas pathway are necessary for the development of ALPS and this syndrome could be influenced by the concurrent effect of other mutations hitting different genes involved in Fas or related pathways.

  19. Excitatory synapses are stronger in the hippocampus of Rett syndrome mice due to altered synaptic trafficking of AMPA-type glutamate receptors.

    Science.gov (United States)

    Li, Wei; Xu, Xin; Pozzo-Miller, Lucas

    2016-03-15

    Deficits in long-term potentiation (LTP) at central excitatory synapses are thought to contribute to cognitive impairments in neurodevelopmental disorders associated with intellectual disability and autism. Using the methyl-CpG-binding protein 2 (Mecp2) knockout (KO) mouse model of Rett syndrome, we show that naïve excitatory synapses onto hippocampal pyramidal neurons of symptomatic mice have all of the hallmarks of potentiated synapses. Stronger Mecp2 KO synapses failed to undergo LTP after either theta-burst afferent stimulation or pairing afferent stimulation with postsynaptic depolarization. On the other hand, basal synaptic strength and LTP were not affected in slices from younger presymptomatic Mecp2 KO mice. Furthermore, spine synapses in pyramidal neurons from symptomatic Mecp2 KO are larger and do not grow in size or incorporate GluA1 subunits after electrical or chemical LTP. Our data suggest that LTP is occluded in Mecp2 KO mice by already potentiated synapses. The higher surface levels of GluA1-containing receptors are consistent with altered expression levels of proteins involved in AMPA receptor trafficking, suggesting previously unidentified targets for therapeutic intervention for Rett syndrome and other MECP2-related disorders.

  20. Barth syndrome: cellular compensation of mitochondrial dysfunction and apoptosis inhibition due to changes in cardiolipin remodeling linked to tafazzin (TAZ) gene mutation.

    Science.gov (United States)

    Gonzalvez, François; D'Aurelio, Marilena; Boutant, Marie; Moustapha, Aoula; Puech, Jean-Philippe; Landes, Thomas; Arnauné-Pelloquin, Laeticia; Vial, Guillaume; Taleux, Nellie; Slomianny, Christian; Wanders, Ronald J; Houtkooper, Riekelt H; Bellenguer, Pascale; Møller, Ian Max; Gottlieb, Eyal; Vaz, Frederic M; Manfredi, Giovanni; Petit, Patrice X

    2013-08-01

    Cardiolipin is a mitochondrion-specific phospholipid that stabilizes the assembly of respiratory chain complexes, favoring full-yield operation. It also mediates key steps in apoptosis. In Barth syndrome, an X chromosome-linked cardiomyopathy caused by tafazzin mutations, cardiolipins display acyl chain modifications and are present at abnormally low concentrations, whereas monolysocardiolipin accumulates. Using immortalized lymphoblasts from Barth syndrome patients, we showed that the production of abnormal cardiolipin led to mitochondrial alterations. Indeed, the lack of normal cardiolipin led to changes in electron transport chain stability, resulting in cellular defects. We found a destabilization of the supercomplex (respirasome) I+III2+IVn but also decreased amounts of individual complexes I and IV and supercomplexes I+III and III+IV. No changes were observed in the amounts of individual complex III and complex II. We also found decreased levels of complex V. This complex is not part of the supercomplex suggesting that cardiolipin is required not only for the association/stabilization of the complexes into supercomplexes but also for the modulation of the amount of individual respiratory chain complexes. However, these alterations were compensated by an increase in mitochondrial mass, as demonstrated by electron microscopy and measurements of citrate synthase activity. We suggest that this compensatory increase in mitochondrial content prevents a decrease in mitochondrial respiration and ATP synthesis in the cells. We also show, by extensive flow cytometry analysis, that the type II apoptosis pathway was blocked at the mitochondrial level and that the mitochondria of patients with Barth syndrome cannot bind active caspase-8. Signal transduction is thus blocked before any mitochondrial event can occur. Remarkably, basal levels of superoxide anion production were slightly higher in patients' cells than in control cells as previously evidenced via an increased

  1. Bacteremia por Rhodococcus equi em paciente com síndrome da imunodeficiência adquirida: relato de caso Bacteremia due to Rhodococcus equi in a patient with acquired immunodeficiency syndrome: case report

    Directory of Open Access Journals (Sweden)

    Carina Secchi

    2006-12-01

    Full Text Available Rhodococcus equi é um importante agente de infecções zoonóticas, podendo causar sérias infecções em humanos, principalmente em pacientes imunocomprometidos. Neste estudo, nós relatamos o caso de uma bacteremia fatal devido a Rhodococcus equi em paciente com síndrome da imunodeficiência adquirida (HIV positivo.Rhodococcus equi is an important agent for zoonotic infections, and may cause serious infections in humans, especially immunocompromised patients. In this study, a case of fatal bacteremia due to Rhodococcus equi in a patient with acquired immunodeficiency syndrome (HIV positive is reported.

  2. Genetic obesity syndromes.

    Science.gov (United States)

    Goldstone, Anthony P; Beales, Philip L

    2008-01-01

    There are numerous reports of multi-system genetic disorders with obesity. Many have a characteristic presentation and several, an overlapping phenotype indicating the likelihood of a shared common underlying mechanism or pathway. By understanding the genetic causes and functional perturbations of such syndromes we stand to gain tremendous insight into obesogenic pathways. In this review we focus particularly on Bardet-Biedl syndrome, whose molecular genetics and cell biology has been elucidated recently, and Prader-Willi syndrome, the commonest obesity syndrome due to loss of imprinted genes on 15q11-13. We also discuss highlights of other genetic obesity syndromes including Alstrom syndrome, Cohen syndrome, Albright's hereditary osteodystrophy (pseudohypoparathyroidism), Carpenter syndrome, MOMO syndrome, Rubinstein-Taybi syndrome, cases with deletions of 6q16, 1p36, 2q37 and 9q34, maternal uniparental disomy of chromosome 14, fragile X syndrome and Börjeson-Forssman-Lehman syndrome.

  3. Gastric outlet obstruction due to adenocarcinoma in a patient with Ataxia-Telangiectasia syndrome: a case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Hammond Sue

    2009-03-01

    Full Text Available Abstract Background Ataxia-Telangiectasia syndrome is characterized by progressive cerebellar dysfunction, conjuctival and cutaneous telangiectasias, severe immune deficiencies, premature aging and predisposition to cancer. Clinical and radiographic evaluation for malignancy in ataxia-telangiectasia patients is usually atypical, leading to delays in diagnosis. Case presentation We report the case of a 20 year old ataxia-telangiectasia patient with gastric adenocarcinoma that presented as complete gastric outlet obstruction. Conclusion A literature search of adenocarcinoma associated with ataxia-telangiectasia revealed 6 cases. All patients presented with non-specific gastrointestinal complaints suggestive of ulcer disease. Although there was no correlation between immunoglobulin levels and development of gastric adenocarcinoma, the presence of chronic gastritis and intestinal metaplasia seem to lead to the development of gastric adenocarcinoma. One should consider adenocarcinoma in any patient with ataxia-telangiectasia who presents with non-specific gastrointestinal complaints, since this can lead to earlier diagnosis.

  4. A global amnesia associated with the specific variant of posterior reversible encephalopathy syndrome (PRES) that developed due to severe preeclampsia and malignant hypertension

    Science.gov (United States)

    Borovac, Josip Anđelo; Božić, Joško; Žaja, Nikola; Kolić, Krešimir; Hrboka, Vedran

    2016-01-01

    A case is reported of a 26-year-old primiparous woman in the 32nd week of gestation who presented to the emergency department with the symptoms of a severe headache, nausea and vomiting. The patient was diagnosed with preeclampsia that later progressed to eclampsia. This state was characterized by a sudden onset of a headache and diplopia that advanced to cortical blindness and precipitated significant alterations in mental status, most notable being global amnesia that resolved within 48 h. A post-partum magnetic resonance imaging of the brain in FLAIR mode revealed multiple cortico-subcortical areas of hyperintense signals suggestive of edematous lesions that chiefly involved occipital and parietal lobes with additional atypical manifestations. Such radiologic findings suggested a posterior reversible encephalopathy syndrome variant with the global amnesia as an extraordinary constituent. This unique feature should be acknowledged when treating a preeclamptic or hypertensive patient that exhibits neurological symptomatology and vision disturbances. PMID:27099774

  5. A global amnesia associated with the specific variant of posterior reversible encephalopathy syndrome (PRES) that developed due to severe preeclampsia and malignant hypertension.

    Science.gov (United States)

    Borovac, Josip Anđelo; Božić, Joško; Žaja, Nikola; Kolić, Krešimir; Hrboka, Vedran

    2016-04-01

    A case is reported of a 26-year-old primiparous woman in the 32nd week of gestation who presented to the emergency department with the symptoms of a severe headache, nausea and vomiting. The patient was diagnosed with preeclampsia that later progressed to eclampsia. This state was characterized by a sudden onset of a headache and diplopia that advanced to cortical blindness and precipitated significant alterations in mental status, most notable being global amnesia that resolved within 48 h. A post-partum magnetic resonance imaging of the brain in FLAIR mode revealed multiple cortico-subcortical areas of hyperintense signals suggestive of edematous lesions that chiefly involved occipital and parietal lobes with additional atypical manifestations. Such radiologic findings suggested a posterior reversible encephalopathy syndrome variant with the global amnesia as an extraordinary constituent. This unique feature should be acknowledged when treating a preeclamptic or hypertensive patient that exhibits neurological symptomatology and vision disturbances.

  6. Severe pediatric acute respiratory distress syndrome due to scrub typhus: Successful ventilation with airway pressure release ventilation mode after becoming refractory to protective ventilation

    Directory of Open Access Journals (Sweden)

    Sudha Chandelia

    2017-01-01

    Full Text Available Scrub typhus can affect lungs from mild illness like pneumonitis to a severe illness like acute respiratory distress syndrome (ARDS. Such patients may be very challenging to treat when their hypoxemia becomes severe and refractory to treatment. Main treatment is supportive in terms of mechanical ventilation. In adult ARDS, low tidal volume (TV ventilation has been recommended, but there is no consensus on most effective ventilation mode in children. We present a case of a 12-year-old girl who developed severe ARDS (PO 2 /FiO 2 ratio - 58, refractory to low TV ventilation. There was a rapid improvement in oxygenation on the application of airway pressure release ventilation (APRV mode within ΍ h. She was successfully ventilated and weaned off the ventilator over 5 days. This case highlights the utility of APRV mode of ventilation as a rescue therapy for severe refractory ARDS in children.

  7. Cultured hippocampal neurons from trisomy 16 mouse, a model for Down's syndrome, have an abnormal action potential due to a reduced inward sodium current.

    Science.gov (United States)

    Galdzicki, Z; Coan, E; Rapoport, S I

    1993-02-26

    Mouse trisomy 16 is an animal model for Down's syndrome (human trisomy 21). The whole-cell patch-clamp technique was used to compare passive and active electrical properties of trisomy 16 and diploid mouse 16 fetal hippocampal neurons maintained in culture for 2-5 weeks. There was no significant difference in any mean passive property, including resting potential, membrane resistance, capacitance and time constant. However, in trisomic neurons, the action potential had a 20% significantly slower rising phase and a 20% significantly smaller inward sodium current and inward sodium conductance than did control neurons. The outward conductance was not altered. The ratio of maximum inward conductance to maximum outward conductance was 30% less in the trisomy 16 cells. These results indicate that trisomy 16 hippocampal neurons have abnormal active electrical properties, most likely reflecting reduced sodium channel membrane density. Such subtle differences may influence elaboration of the hippocampus during development.

  8. Primary Sjögren syndrome presenting with hemolytic anemia and pure red cell aplasia following delivery due to Coombs-negative autoimmune hemolytic anemia and hemophagocytosis.

    Science.gov (United States)

    Komaru, Yohei; Higuchi, Takakazu; Koyamada, Ryosuke; Haji, Youichiro; Okada, Masato; Kamesaki, Toyomi; Okada, Sadamu

    2013-01-01

    A 36-year-old woman presented with hemolytic anemia without a reticulocyte response 38 days after delivery. A marked reduction in erythroid cells and an increase in macrophages with active hemophagocytosis were noted in the bone marrow. While conventional Coombs' tests were negative, the level of red blood cell (RBC)-bound immunoglobulin G (IgG) was increased. The patient was diagnosed with primary Sjögren syndrome (pSS) based on her symptoms, positive anti-SS-A antibodies, Coombs-negative autoimmune hemolytic anemia and pure red cell aplasia associated with RBC-bound IgG and hemophagocytosis. The unique presentation was considered to be a consequence of immunological derangement associated with pSS, pregnancy and delivery.

  9. Deficient plakophilin-1 expression due to a mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in Chesapeake Bay retriever dogs.

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    Thierry Olivry

    Full Text Available In humans, congenital and hereditary skin diseases associated with epidermal cell-cell separation (acantholysis are very rare, and spontaneous animal models of these diseases are exceptional. Our objectives are to report a novel congenital acantholytic dermatosis that developed in Chesapeake Bay retriever dogs. Nine affected puppies in four different litters were born to eight closely related clinically normal dogs. The disease transmission was consistent with an autosomal recessive mode of inheritance. Clinical signs occurred immediately after birth with superficial epidermal layers sloughing upon pressure. At three month of age, dogs exhibited recurrent superficial skin sloughing and erosions at areas of friction and mucocutaneous junctions; their coat was also finer than normal and there were patches of partial hair loss. At birth, histopathology revealed severe suprabasal acantholysis, which became less severe with ageing. Electron microscopy demonstrated a reduced number of partially formed desmosomes with detached and aggregated keratin intermediate filaments. Immunostaining for desmosomal adhesion molecules revealed a complete lack of staining for plakophilin-1 and anomalies in the distribution of desmoplakin and keratins 10 and 14. Sequencing revealed a homozygous splice donor site mutation within the first intron of PKP1 resulting in a premature stop codon, thereby explaining the inability to detect plakophilin-1 in the skin. Altogether, the clinical and pathological findings, along with the PKP1 mutation, were consistent with the diagnosis of ectodermal dysplasia-skin fragility syndrome with plakophilin-1 deficiency. This is the first occurrence of ectodermal dysplasia-skin fragility syndrome in an animal species. Controlled mating of carrier dogs would yield puppies that could, in theory, be tested for gene therapy of this rare but severe skin disease of children.

  10. Myelopathy-mimicking symptoms of epidural venous engorgement and syringomyelia due to inferior vena cava stenosis at the thoracolumbar junction in a patient with Budd-Chiari syndrome.

    Science.gov (United States)

    Lee, Jung-Hee; Song, Wook-Jae; Kang, Kyung-Chung

    2015-10-01

    Epidural venous engorgement can result from various lesions, such as arteriovenous malformation, thrombosis or occlusion of the inferior vena cava (IVC), or an abdominal masslike lesion. Most patients with these problems complain of low-back pain, radicular pain, or neurogenic claudication, which are symptoms suggestive of disc herniation or spinal stenosis. However, these patients rarely exhibit neurological deficits or cauda equina syndrome. The authors encountered a case of a 60-year-old man presenting with lower-extremity weakness and voiding difficulty for a period of 1 year. To investigate the patient's myelopathy-mimicking symptoms, a lumbar spine MRI scan was performed. The MR images exhibited tortuous and dilated spinal vessels compressing the spinal cord and thecal sac at the T11-L3 level, which were concurrent with syringomyelia evidenced by a 22 × 2.5-mm cyst at the T11-12 level. 3D CT scanning of the whole aorta revealed total occlusion and regression of the IVC in the intrahepatic region 3 cm inferior to the right atrium and dilation of multiple collateral veins. The patient was diagnosed with chronic Budd-Chiari syndrome Type I. The authors performed venography, followed by intrahepatic IVC recanalization via stent placement under fluoroscopic and ultra sonographic guidance and without surgical exploration. After this treatment, there was a marked decrease in epidural venous engorgement and the patient's symptoms resolved almost completely. This case indicates that epidural venous engorgement at thoracolumbar levels may cause symptoms suggestive of myelopathy and can be successfully treated by minimally invasive procedures to eliminate the underlying causes.

  11. Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review Retinopatia pigmentar devido a síndrome de Bardet-Biedl: relato de caso e revisão da literatura

    Directory of Open Access Journals (Sweden)

    Luis Jesuino de Oliveira Andrade

    2009-10-01

    Full Text Available Bardet-Biedl syndrome (BBS is a rare autosomal recessive disorder with clinical and genetic heterogeneity. This syndrome was first described by Laurence and Moon in 1866 and additional cases were described by Bardet and Biedl between 1920 and 1922. The main features are obesity, polydactyly, pigmentary retinopathy, learning disabilities, various degrees of intellectual impairment, hypogonadism, and renal abnormalities. Bardet-Biedl syndrome is both phenotypically and genetically heterogeneous. Clinical diagnosis is based on the presence of 4 of the 5 cardinal features. The authors present a typical case of pigmentary retinopathy due to Bardet-Biedl syndrome and made a brief commentary about the disease's cardinal manifestations.A síndrome de Bardet-Biedl (BBS é uma desordem autossômica recessiva rara, com heterogeneidade clínica e genética. Esta síndrome foi descrita pela primeira vez por Laurence e Moon em 1866 e outros casos foram descritos por Bardet e Biedl entre 1920 e 1922. As principais características são obesidade, polidactilia, retinopatia pigmentar, dificuldades de aprendizagem, graus de deficiência intelectual diversos, hipogonadismo e anomalias renais. Síndrome de Bardet-Biedl é fenotipicamente e geneticamente heterogêneos. O diagnóstico clínico baseia-se na presença de quatro dos cinco sinais principais da síndrome. Os autores apresentam um caso típico de retinopatia pigmentar devido à síndrome de Bardet-Biedl e fazem uma breve revisão sobre as manifestações da síndrome com especial atenção à retinopatia pigmentar.

  12. Truth Created by Improvisation——An Analysis of Mike Leigh's Theatre/Film Rehearsals%即兴创造真实——麦克·李的戏剧/电影前期排练解析

    Institute of Scientific and Technical Information of China (English)

    刘阳

    2009-01-01

    @@ 谁是麦克·李(Mike Leigh) 第58届柏林电影节于北京时间2008年2月17日落下帷幕,之前广受好评的影片《无忧无虑》(Happy-Go-Lucky)只获得最佳女演员奖,使这次金熊奖的评选备受争议.但是这部影片的导演--伦敦电影学院的主席,被誉为英国电影教父之一的麦克·李--已经不需靠再次获奖来增加头上的光环.

  13. [Severe hypercalcemia as a complication of intensive treatment for osteoporosis due to steroid therpay in 17-year-old girl with the nephrotic syndrome].

    Science.gov (United States)

    Ksiazek, Ewelina; Majewski, Marek; Borzecka, Halina; Sikora, Przemysław; Bieniaś, Beata; Zajaczkowska, Małgorzata

    2008-01-01

    In the article, 17-year-old girl with iatrogenic severe hipercalcemia was presented. The girl was treated since the age of 12 years for steroid-sensitive minimal change disease. Due to steroid therapy osteoporosis developed and intensive treatment with active form of vitamin D and high doses of calcium was started. She was admitted to our clinic in severe general state with abdominal pain, vomiting, dehydration, muscle weakness, hypertension and mental confusion. Severe hipercalcemia with nephrocalcinosis was diagnosed. The history revealed that the girl had increased the doses of drugs intentionally. The authors emphasized the need for careful monitoring of prophylaxis and treatment for osteoporosis due to steroid therapy.

  14. Severe Uncompensated Metabolic Alkalosis due to Plasma Exchange in a Patient with Pulmonary-Renal Syndrome: A Clinician’s Challenge

    Directory of Open Access Journals (Sweden)

    Mohsin Ijaz

    2015-01-01

    Full Text Available Metabolic alkalosis secondary to citrate toxicity from plasma exchange is very uncommon in patients with normal renal function. In patients with advanced renal disease this can be a fatal event. We describe a case of middle-aged woman with Goodpasture’s syndrome treated with plasma exchange who developed severe metabolic alkalosis. High citrate load in plasma exchange fluid is the underlying etiology. Citrate metabolism generates bicarbonate and once its level exceeds the excretory capacity of kidneys, the severe metabolic alkalosis ensues. Our patient presented with generalized weakness, fever, and oliguria and developed rapidly progressive renal failure. Patient had positive serology for antineutrophilic cytoplasmic antibodies myeloperoxidase (ANCA-MPO and anti-glomerular basement membrane antibodies (anti-GBM. Renal biopsy showed diffuse necrotizing and crescentic glomerulonephritis with linear glomerular basement membrane staining. Patient did not respond to intravenous steroids. Plasma exchange was started with fresh frozen plasma but patient developed severe metabolic alkalosis. This metabolic alkalosis normalized with cessation of plasma exchange and initiation of low bicarbonate hemodialysis. ANCA-MPO and anti-GBM antibodies levels normalized within 2 weeks and remained undetectable at 3 months. Patient still required maintenance hemodialysis.

  15. Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations.

    Science.gov (United States)

    Philibert, Pascal; Audran, Françoise; Pienkowski, Catherine; Morange, Isabelle; Kohler, Birgit; Flori, Elisabeth; Heinrich, Claudine; Dacou-Voutetakis, Catherine; Joseph, Marie-Geneviève; Guedj, Anne-Marie; Journel, Hubert; Hecart-Bruna, Annie-Claude; Khotchali, Ines; Ten, Svetlana; Bouchard, Philippe; Paris, Françoise; Sultan, Charles

    2010-07-01

    To confirm the clinical diagnosis of complete androgen insensitivity syndrome (CAIS) by molecular genetic analysis and to determine the prevalence of exon 1 mutations in the androgen receptor (AR) transactivation defects of a large series of CAIS patients. International retrospective study. University Hospital of Montpellier, Department of Hormonology. 105 patients with normal female external genitalia, bilateral intra-abdominal or inguinal testis, normal breast development, absent or sparse pubic hair, normal or high endogenous testosterone production, hypoplastic or absent wolffian structures, and 46,XY karyotype. Sequencing of the AR gene. Prevalence of AR exon 1 mutations. Over a 10-year period (1997 to 2007), we identified 78 AR gene mutations in 105 patients with CAIS; 21 of them were located in exon 1, and 13 of these were new mutations. We report 13 new mutations in the AR gene. All but one were stop codons, and the last was a splicing abnormality. The finding that 27% of the mutations in our cohort were localized in exon 1 versus 15% in previous works justifies the sequencing of this exon in patients with CAIS. Copyright 2010. Published by Elsevier Inc.

  16. Growth arrest in the ribosomopathy, Bowen-Conradi syndrome, is due to dramatically reduced cell proliferation and a defect in mitotic progression.

    Science.gov (United States)

    Armistead, Joy; Patel, Nehal; Wu, Xiaoli; Hemming, Richard; Chowdhury, Biswajit; Basra, Gagandeep Singh; Del Bigio, Marc R; Ding, Hao; Triggs-Raine, Barbara

    2015-05-01

    Bowen-Conradi syndrome (BCS) is a ribosomopathy characterized by severe developmental delay and growth failure that typically leads to death by one year of age. It is caused by a c.257A>G, p.D86G substitution in the ribosomal biogenesis protein, Essential for Mitotic Growth 1 (EMG1). We generated a knock-in of the D86G substitution in mice to characterize the effects of EMG1 deficiency, particularly in the brain, where EMG1 expression is high. Embryos homozygous for the mutation in Emg1 were small for gestational age with neural tube defects, and died between embryonic days 8.5 and 12.5. These embryos exhibited dramatically reduced cell proliferation, which we also detected in autopsy brain tissue and bone marrow of BCS patients, consistent with a requirement for high levels of EMG1 in tissues with rapid cell proliferation. In fibroblasts derived from the BCS mouse embryos, we detected a high proportion of binucleated cells, indicating that a mitotic defect underlies the growth arrest in BCS. These studies add to growing evidence of a link between ribosome biogenesis, mitotic progression, and brain development that is currently unexplored.

  17. Autoimmune predisposition in Down syndrome may result from a partial central tolerance failure due to insufficient intrathymic expression of AIRE and peripheral antigens.

    Science.gov (United States)

    Giménez-Barcons, Mireia; Casteràs, Anna; Armengol, Maria del Pilar; Porta, Eduard; Correa, Paula A; Marín, Ana; Pujol-Borrell, Ricardo; Colobran, Roger

    2014-10-15

    Down syndrome (DS), or trisomy of chromosome 21, is the most common genetic disorder associated with autoimmune diseases. Autoimmune regulator protein (AIRE), a transcription factor located on chromosome 21, plays a crucial role in autoimmunity by regulating promiscuous gene expression (pGE). To investigate if autoimmunity in DS is promoted by the reduction of pGE owing to dysregulation of AIRE, we assessed the expression of AIRE and of several peripheral tissue-restricted Ag genes by quantitative PCR in thymus samples from 19 DS subjects and 21 euploid controls. Strikingly, despite the 21 trisomy, AIRE expression was significantly reduced by 2-fold in DS thymuses compared with controls, which was also confirmed by fluorescent microscopy. Allele-specific quantification of intrathymic AIRE showed that despite its lower expression, the three copies are expressed. More importantly, decreased expression of AIRE was accompanied by a reduction of pGE because expression of tissue-restricted Ags, CHRNA1, GAD1, PLP1, KLK3, SAG, TG, and TSHR, was reduced. Of interest, thyroid dysfunction (10 cases of hypothyroidism and 1 of Graves disease) developed in 11 of 19 (57.9%) of the DS individuals and in none of the 21 controls. The thymuses of these DS individuals contained significantly lower levels of AIRE and thyroglobulin, to which tolerance is typically lost in autoimmune thyroiditis leading to hypothyroidism. Our findings provide strong evidence for the fundamental role of AIRE and pGE, namely, central tolerance, in the predisposition to autoimmunity of DS individuals. Copyright © 2014 by The American Association of Immunologists, Inc.

  18. Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4 due to PTRF-CAVIN mutations.

    Directory of Open Access Journals (Sweden)

    Anna Rajab

    2010-03-01

    Full Text Available We investigated eight families with a novel subtype of congenital generalized lipodystrophy (CGL4 of whom five members had died from sudden cardiac death during their teenage years. ECG studies revealed features of long-QT syndrome, bradycardia, as well as supraventricular and ventricular tachycardias. Further symptoms comprised myopathy with muscle rippling, skeletal as well as smooth-muscle hypertrophy, leading to impaired gastrointestinal motility and hypertrophic pyloric stenosis in some children. Additionally, we found impaired bone formation with osteopenia, osteoporosis, and atlanto-axial instability. Homozygosity mapping located the gene within 2 Mbp on chromosome 17. Prioritization of 74 candidate genes with GeneDistiller for high expression in muscle and adipocytes suggested PTRF-CAVIN (Polymerase I and transcript release factor/Cavin as the most probable candidate leading to the detection of homozygous mutations (c.160delG, c.362dupT. PTRF-CAVIN is essential for caveolae biogenesis. These cholesterol-rich plasmalemmal vesicles are involved in signal-transduction and vesicular trafficking and reside primarily on adipocytes, myocytes, and osteoblasts. Absence of PTRF-CAVIN did not influence abundance of its binding partner caveolin-1 and caveolin-3. In patient fibroblasts, however, caveolin-1 failed to localize toward the cell surface and electron microscopy revealed reduction of caveolae to less than 3%. Transfection of full-length PTRF-CAVIN reestablished the presence of caveolae. The loss of caveolae was confirmed by Atomic Force Microscopy (AFM in combination with fluorescent imaging. PTRF-CAVIN deficiency thus presents the phenotypic spectrum caused by a quintessential lack of functional caveolae.

  19. A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features

    Science.gov (United States)

    Dumitrescu, Claudia E.; Kelly, Marilyn H.; Khosravi, Azarmindokht; Hart, Thomas C.; Brahim, Jaime; White, Kenneth E.; Farrow, Emily G.; Nathan, Muriel H.; Murphey, Mark D.; Collins, Michael T.

    2008-01-01

    Introduction Familial tumoral calcinosis (FTC) and hyperostosis-hyperphosphatemia syndrome (HHS) are caused by mutations in FGF23, GALNT3, or KLOTHO. They are characterized by hyperphosphatemia, increased phosphate reabsorption, and elevated or inappropriately normal serum 1, 25-dihydroxyvitamin D3 (1,25-D); FTC is associated with calcific masses, and HHS with diaphyseal hyperostosis. Methods A 36-year-old woman presented with abnormal dental x-rays at age 12, and was hyperphosphatemic at 22. She underwent radiographic, biochemical and genetic testing, and medical treatment. Results Serum phosphorus was 7.3 mg/dl (2.5-4.8), TmP/GFR 6.99 mg/100 ml (2.97-4.45), 1,25-D3 35 pg/ml (22-67). Radiographs revealed tooth anomalies, thyroid cartilage calcification, calcific masses in vertebral spaces, calcification of the interstitial septae of the soft tissue in the lower extremities, and cortical thickening of the long bones. Her total hip Z-Score was 1.9. C-terminus serum FGF23 was 1210 RU/ml (20-108), but intact FGF23 was 7.4 pg/ml (10-50). DNA sequencing determined she was a compound heterozygote for mutations in GALNT3. Treatment with niacinamide and acetazolamide decreased TmP/GFR and serum phosphate, which was paralleled by a decrease in serum C-terminus FGF23. Conclusions This case broadens the spectrum of phenotypic and genotypic features of FTC/HHS, and suggests treatments to decrease renal phosphate reabsorption in the setting of a low intact FGF23. PMID:18982401

  20. Mitochondrial free radical overproduction due to respiratory chain impairment in the brain of a mouse model of Rett syndrome: protective effect of CNF1.

    Science.gov (United States)

    De Filippis, Bianca; Valenti, Daniela; de Bari, Lidia; De Rasmo, Domenico; Musto, Mattia; Fabbri, Alessia; Ricceri, Laura; Fiorentini, Carla; Laviola, Giovanni; Vacca, Rosa Anna

    2015-06-01

    Rett syndrome (RTT) is a pervasive neurodevelopmental disorder mainly caused by mutations in the X-linked MECP2 gene associated with severe intellectual disability, movement disorders, and autistic-like behaviors. Its pathogenesis remains mostly not understood and no effective therapy is available. High circulating levels of oxidative stress markers in patients and the occurrence of oxidative brain damage in MeCP2-deficient mouse models suggest the involvement of oxidative stress in RTT pathogenesis. However, the molecular mechanism and the origin of the oxidative stress have not been elucidated. Here we demonstrate that a redox imbalance arises from aberrant mitochondrial functionality in the brain of MeCP2-308 heterozygous female mice, a condition that more closely recapitulates that of RTT patients. The marked increase in the rate of hydrogen peroxide generation in the brain of RTT mice seems mainly produced by the dysfunctional complex II of the mitochondrial respiratory chain. In addition, both membrane potential generation and mitochondrial ATP synthesis are decreased in RTT mouse brains when succinate, the complex II respiratory substrate, is used as an energy source. Respiratory chain impairment is brain area specific, owing to a decrease in either cAMP-dependent phosphorylation or protein levels of specific complex subunits. Further, we investigated whether the treatment of RTT mice with the bacterial protein CNF1, previously reported to ameliorate the neurobehavioral phenotype and brain bioenergetic markers in an RTT mouse model, exerts specific effects on brain mitochondrial function and consequently on hydrogen peroxide production. In RTT brains treated with CNF1, we observed the reactivation of respiratory chain complexes, the rescue of mitochondrial functionality, and the prevention of brain hydrogen peroxide overproduction. These results provide definitive evidence of mitochondrial reactive oxygen species overproduction in RTT mouse brain and

  1. MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.

    Science.gov (United States)

    Frints, Suzanna Gerarda Maria; Lenzner, Steffen; Bauters, Mareike; Jensen, Lars Riff; Van Esch, Hilde; des Portes, Vincent; Moog, Ute; Macville, Merryn Victor Erik; van Roozendaal, Kees; Schrander-Stumpel, Constance Theresia Rimbertha Maria; Tzschach, Andreas; Marynen, Peter; Fryns, Jean-Pierre; Hamel, Ben; van Bokhoven, Hans; Chelly, Jamel; Beldjord, Chérif; Turner, Gillian; Gecz, Jozef; Moraine, Claude; Raynaud, Martine; Ropers, Hans Hilger; Froyen, Guy; Kuss, Andreas Walter

    2008-09-01

    Mutations in the thyroid monocarboxylate transporter 8 gene (MCT8/SLC16A2) have been reported to result in X-linked mental retardation (XLMR) in patients with clinical features of the Allan-Herndon-Dudley syndrome (AHDS). We performed MCT8 mutation analysis including 13 XLMR families with LOD scores >2.0, 401 male MR sibships and 47 sporadic male patients with AHDS-like clinical features. One nonsense mutation (c.629insA) and two missense changes (c.1A>T and c.1673G>A) were identified. Consistent with previous reports on MCT8 missense changes, the patient with c.1673G>A showed elevated serum T3 level. The c.1A>T change in another patient affects a putative translation start codon, but the same change was present in his healthy brother. In addition normal serum T3 levels were present, suggesting that the c.1A>T (NM_006517) variation is not responsible for the MR phenotype but indicates that MCT8 translation likely starts with a methionine at position p.75. Moreover, we characterized a de novo translocation t(X;9)(q13.2;p24) in a female patient with full blown AHDS clinical features including elevated serum T3 levels. The MCT8 gene was disrupted at the X-breakpoint. A complete loss of MCT8 expression was observed in a fibroblast cell-line derived from this patient because of unfavorable nonrandom X-inactivation. Taken together, these data indicate that MCT8 mutations are not common in non-AHDS MR patients yet they support that elevated serum T3 levels can be indicative for AHDS and that AHDS clinical features can be present in female MCT8 mutation carriers whenever there is unfavorable nonrandom X-inactivation.

  2. Differential regulation of miR-146a/FAS and miR-21/FASLG axes in autoimmune lymphoproliferative syndrome due to FAS mutation (ALPS-FAS).

    Science.gov (United States)

    Marega, Lia Furlaneto; Teocchi, Marcelo Ananias; Dos Santos Vilela, Maria Marluce

    2016-08-01

    Most cases of autoimmune lymphoproliferative syndrome (ALPS) have an inherited genetic defect involving apoptosis-related genes of the FAS pathway. MicroRNAs (miRNAs) are a class of small non-coding regulatory RNAs playing a role in the control of gene expression. This is the first report on miRNAs in ALPS patients. We studied a mother and son carrying the same FAS cell surface death receptor (FAS) mutation, but with only the son manifesting the signs and symptoms of ALPS-FAS. The aim was to analyse, by reverse transcription-quantitative polymerase chain reaction (RT-qPCR), the peripheral blood mononuclear cells (PBMC) relative expression of miR-146a and miR-21, including their passenger strands and respective targets (FAS and FASLG). In comparison with healthy matched control individuals, miR-21-3p was over-expressed significantly (P = 0·0313) in the son, with no significant change in the expression of miR-146a, miR-146a-3p and miR-21. In contrast, the mother had a slight under-expression of the miR-146a pair and miR-21-3p (P = 0·0625). Regarding the miRNA targets, FAS was up-regulated markedly for the mother (P = 0·0078), but down-regulated for the son (P = 0·0625), while FASLG did not have any significant alteration. Taken together, our finding clearly suggests a role of the miR-146a/FAS axis in ALPS-FAS variable expressivity in which FAS haploinsufficiency seems to be compensated only in the mother who had the miR-146a pair down-regulated. As only the son had the major clinical manifestations of ALPS-FAS, miR-21-3p should be investigated as playing a critical role in ALPS physiopathology, including the development of lymphoma.

  3. Eagle's Syndrome

    OpenAIRE

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

    2013-01-01

    Summary Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is diffic...

  4. Síndrome del shock tóxico estreptocócico tras fascitis necrotizante por estreptococo pyogenes Streptococcal toxic shock syndrome after necrotizing fascitis due to streptococcus pyogenes

    Directory of Open Access Journals (Sweden)

    A. Rodríguez Lorenzo

    2007-12-01

    Full Text Available La fascitis necrotizante por Estreptococo Pyogenes es una emergencia quirúrgica con una tasa de mortalidad elevada por la rápida progresión a shock y fallo multiorgánico. El reto supone realizar un diagnóstico precoz, ya que suele ser confundido con una infección leve de tejidos blandos. Presentamos dos casos clínicos de fascitis necrotizante que presentaron en 24 horas un Síndrome de Shock Tóxico Estreptocócico. Revisamos el mecanismo patogénico, diagnóstico y tratamiento descritos para este cuadro y discutimos las recomendaciones para su manejo establecidas en la literatura.Necrotizing fascitis by Streptococcus Pyogenes is a surgical emergency with a high mortality task due to a rapid progression of the illness to shock and organ failure. The challenge is to perform a prompt diagnosis because it is often confused with a minor soft-tissue infection. We present two cases of necrotizing fascitis by Streptococcus Pyogenes who in 24 hours developed a Streptococcal Toxic Shock Syndrome. In addition, we review the pathogenic mechanism, diagnosis and treatment of this syndrome and we discuss its management following literature recommendations.

  5. Scheie syndrome

    Science.gov (United States)

    ... Hurler syndrome) MPS II (Hunter syndrome) MPS IV (Morquio syndrome) MPS III (Sanfilippo syndrome) Causes Scheie syndrome ... Autosomal recessive Cloudy cornea Hearing loss Hurler syndrome Morquio syndrome Review Date 4/20/2015 Updated by: ...

  6. Diagnosis and therapy of 38 Budd-Chiari syndrome due to membrance obstruction of the hepatic veins%38例肝静脉膜型布加综合征诊治分析

    Institute of Scientific and Technical Information of China (English)

    孙振阳; 芮清峰; 刘允乐

    2013-01-01

    目的 探讨肝静脉膜型布加综合征(Budd-Chiari syndrome,BCS)的诊治方法.方法 38例患者均经彩超检查,疑为BCS患者行肝静脉、下腔静脉造影明确诊断后行经皮腔内血管成形(percutaneous intraluminal angioplasty,PTA)术或/和支架置入术.结论 38例患者中16例球囊扩张成功,19例支架置入,失败3例,无1例发生严重并发症.结论经皮腔内血管成形术、支架置入术是治疗肝静脉膜型 BCS的一种操作简单、安全有效的方法.%Objective To explore diagnosis and therapy of Budd -Chiari syndrome due to membrance obstruction of the hepatic veins . Methods All of the 38 patients were detected by colour doppler flow imaging , hepatic and inferior vena cava venography. Then percutaneous in-traluminal angioplasty or intravascular stent insertion was undergone . Results 16 patients underwent therapy of percutaneous intraluminal angioplasty ,and 19 patients underwent therapy of intravascular stent insertion successfully and 3 failed. Conclusion Percutaneous intraluminal angioplasty and intravascular stent insertion are safe and effective for BCS due to membrance obstruction of the hepatic veins .

  7. Peroneal nerve palsy due to compartment syndrome after facial plastic surgery Paralisia de nervo fibular devido a síndrome compartimental após cirurgia plástica da face

    Directory of Open Access Journals (Sweden)

    Clécio O. Godeiro-Júnior

    2007-09-01

    Full Text Available A 25-year-old white man, right after bilateral rhytidoplasty, presented with agitation, necessiting use of haloperidol. Some hours after, he developed severe pain in his legs and a diagnosis of neuroleptic malignant syndrome (NMS was considered. Even with treatment for NMS he still complained of pain. A diagnosis of lower limb compartment syndrome (CS was done only 12 hours after the initial event, being submitted to fasciotomy in both legs, disclosing very pale muscles, due to previous ischemia. This syndrome was not explained only by facial surgery, his position and duration of the procedure. It can be explained by a sequence of events. He had a history of pain in his legs during physical exercises, usually seen in chronic compartment syndrome. He used to take anabolizant and venlafaxine, not previously related, and the agitation could be related to serotoninergic syndrome caused by interaction between venlafaxine and haloperidol. Rhabdomyolisis could lead to oedema and ischmemia in both anterior leg compartment. This report highlights the importance of early diagnosis of compartment syndrome, otherwise, even after fasciotomy, a permanent disability secondary to peripheral nerve compression could occur.Logo após ritidoplastia bilateral, um jovem de 25 anos apresentou agitação, necessitando uso de haloperidol. Algumas horas após, desenvolveu dor intensa em membros inferiores, e o diagnóstico de síndrome neuroléptica maligna foi considerado. Mesmo com o tratamento para tal, persistiu com dor. Após 12 horas do início do quadro, foi realizado o diagnóstico de síndrome compartimental de membros inferiores e o jovem foi submetido a fasciotomia bilateral. Uma seqüência de eventos desencadeou esta síndrome, já que sua ocorrência dificilmente seria justificada pela cirurgia facial e/ou posição do paciente durante o procedimento. O jovem apresentava previamente dor em membros inferiores aos exercícios, sugerindo a ocorrência de uma s

  8. Persistent hypokalemia after successful adrenalectomy in a patient with Cushing's syndrome due to ectopic ACTH secretion: possible role of 11beta-hydroxysteroid dehydrogenase inhibition.

    Science.gov (United States)

    Arteaga, E; Fardella, C; Campusano, C; Cárdenas, I; Martinez, P

    1999-12-01

    Ectopic ACTH secretion is characterized by a high incidence of hypokalemia. The pathophysiology of hypokalemia has not been totally clarified, although it has been postulated that excessive amounts of adrenal steroids may play a role, as well as a possible role of the inhibition of the enzyme 11beta-hydroxysteroid dehydrogenase (11beta-OHSD). This enzyme normally converts cortisol to cortisone avoiding the mineralocorticoid action of cortisol. We present a patient with ectopic ACTH secretion due to a metastatic carcinoid tumor. The clinical picture was characterized by maintained hypokalemia (1.4 mmol/l) resistant to potassium, spironolactone and ketoconazole administration. A bilateral adrenalectomy was performed but the hypokalemia persisted while he was receiving a physiological dose of cortisol. Eight days after adrenalectomy cortisol was replaced by an equivalent dose of dexamethasone. This change was followed by a rapid and persistent normalization of hypokalemia suggesting a mineralocorticoid effect of cortisol. In conclusion, the origin of hypokalemia in our patient with ectopic ACTH secretion was secondary to cortisol. We postulate that this peculiar effect of cortisol could have happened if an inhibition of 11beta-OHSD occurred.

  9. Intravenous flurbiprofen axetil can stabilize the hemodynamic instability due to mesenteric traction syndrome--evaluation with continuous measurement of the systemic vascular resistance index using a FloTrac® sensor.

    Science.gov (United States)

    Takada, Motoshi; Taruishi, Chieko; Sudani, Tomoko; Suzuki, Akira; Iida, Hiroki

    2013-08-01

    Evaluation of the stabilizing effect of intravenous flurbiprofen axetil against hemodynamic instability due to mesenteric traction syndrome (MTS) by continuous measurement of systemic vascular resistance index (SVRI) using a FloTrac(®) sensor was evaluated. Prospective randomized trial. A single-center study performed in an educational hospital. Two prospective studies were carried out, each with 40 patients scheduled for elective open abdominal surgery. Twenty patients received 50 mg of flurbiprofen axetil after the recognition of MTS by the anesthesiologist (group FT). The remaining patients served as controls (groups CP and CT). SVRI data was collected every 20 seconds for 1 hour after starting the laparotomy. The average SVRI prior to skin incision was taken as the baseline. Following 3 values were devised to evaluate MTS: the S-value (sum total of changes in SVRI from baseline), the T-value (period during which SVRI remained 20% or more below baseline), and the M-value (maximum change in SVRI from baseline). In group FP, decrease in SVRI was smaller than in group CP, and statistical differences in the 3 values were found. In group FT, SVRI recovered earlier than in group CT, and statistical differences were found in S-value and T-value. However, the M-value had no statistical differences. Intravenous flurbiprofen axetil can stabilize the hemodynamic instability due to MTS. Copyright © 2013 Elsevier Inc. All rights reserved.

  10. Clinical experience of treating menopausal syndrome due to kidney and liver stagnation by moving cupping method%走罐治疗肾虚肝郁型更年期综合征临床实践

    Institute of Scientific and Technical Information of China (English)

    胡玮璇; 王卫

    2015-01-01

    以明显的精神症状为特点的肾虚肝郁型更年期综合征是临床常见病、多见病。背部走罐疗法常被用于治疗此病,效果颇佳。在此对其在治疗此证型中的作用做一探讨。背部走罐有疏通经络、调整阴阳、激发脏腑功能之效。现代医学研究发现,该方法可提高患者血清雌二醇水平、产生组胺及类组胺物质、调节情志、促进血液循环、提高人体免疫力。对肾虚肝郁型更年期综合征有较好的疗效,可作为临床治疗中一个重要辅助疗法。%The menopausal syndrome due to kidney and liver stagnation is the clinical common disease. The moving cupping therapy is often used to treat this disease, showing better efficacy. This study investigates the role of this therapy. The moving cupping therapy can clear the meridians, adjust the yin and yang, and eventually stimulate function of body organs. Recently, modern medical research has found that this treatment method helps in increasing serum estradiol levels in patients, balancing histamine and histamine substances, regulating emotions, promoting blood circulation, and finally improving the overall immune system. Therefore, moving cupping method can be used as an important adjunct therapy for treating menopausal syndrome caused by kidney and liver stagnation.

  11. Stroke due to Familial Marfan Syndrome

    Directory of Open Access Journals (Sweden)

    M.Taylan Pekoz

    2013-04-01

    Full Text Available Marfan sendromu iskelet, okuler, kardiyovaskuler, akciger, deri ve dura anormalliklerine yol acan otozomal dominant gecisli multisistem bir hastaliktir. Bu makalede Ailesel Marfan Sendromu tanisi alan ve takip periyodunda inme gelisen bir olgu sunulmustur. . [Cukurova Med J 2013; 38(2.000: 285-289

  12. Chylomicronemia syndrome

    Science.gov (United States)

    ... the blood. The disorder is passed down through families. Causes Chylomicronemia syndrome can occur due to a rare genetic disorder in which a protein (enzyme) called lipoprotein lipase (LpL) is broken or missing. LpL is normally found in fat and muscle. ...

  13. Neuroacanthocytosis Syndromes

    Directory of Open Access Journals (Sweden)

    Walker Ruth H

    2011-10-01

    Full Text Available Abstract Neuroacanthocytosis (NA syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome which have a Huntington´s disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. In addition, cardiomyopathy may occur in McLeod syndrome. Acanthocytes are also found in a proportion of patients with autosomal dominant Huntington's disease-like 2, autosomal recessive pantothenate kinase-associated neurodegeneration and several inherited disorders of lipoprotein metabolism, namely abetalipoproteinemia (Bassen-Kornzweig syndrome and hypobetalipoproteinemia leading to vitamin E malabsorption. The latter disorders are characterized by a peripheral neuropathy and sensory ataxia due to dorsal column degeneration, but movement disorders and cognitive impairment are not present. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known. The association of the acanthocytic membrane abnormality with selective degeneration of the basal ganglia, however, suggests a common pathogenetic pathway. Laboratory tests include blood smears to detect acanthocytosis and determination of serum creatine kinase. Cerebral magnetic resonance imaging may demonstrate striatal atrophy. Kell and Kx blood group antigens are reduced or absent in McLeod syndrome. Western blot for chorein demonstrates absence of this protein in red blood cells of chorea-acanthocytosis patients. Specific genetic testing is possible in all NA syndromes

  14. 肺胀阳虚水泛证动物模型的建立方法%Establish animal model with water over-flowing syndrome due to lung-yang deficiency

    Institute of Scientific and Technical Information of China (English)

    韦衮政; 和菊花; 刘涛; 钱锐; 张馨予; 储丽英; 祁向荣

    2011-01-01

    目的 探讨肺胀阳虚水泛证动物模型的造模方法.方法 大鼠随机分为空白对照组;氢化可的松对照组;阿霉素对照组;阿霉素低剂量组;阿霉素高剂量组.序贯应用香烟反复熏吸、气管内注入脂多糖、野百合碱腹腔注射、氢化可的松肌肉注射及阿霉素腹腔注射对大鼠进行造模,然后观察大鼠的精神、形态、活动等,测量尿量,采用心脏超声心动图分阶段检查心脏结构及功能,最后切开胸腹腔探查胸腹脏器情况.结果 应用香烟反复熏吸、气管内注入脂多糖、野百合碱腹腔注射后可引起大鼠疲倦、消瘦、咳嗽、喘促等慢性支气管炎的表现,氢化可的松肌肉注射后可以出现大鼠畏寒、弓背、缩身、体毛枯疏蓬松等肺阳虚表现,阿霉素腹腔注射后可以出现大鼠心肌肥厚、心脏扩大、射血分数下降,严重者形成心包积液、胸腔积液、腹腔积液等水泛表现.结论 序贯应用香烟反复熏吸、气管内注入脂多糖、野百合碱腹腔注射、氢化可的松肌肉注射及阿霉素腹腔注射对大鼠进行造模,可以形成肺胀阳虚水泛证动物模型.%Objective To discuss the establishment method of animal model with water over-flowing syndrome due to Lung-yang asthenia. Methods The eperimental rats were divided into five groups, blank controller, hydrocortisone group, doxorubicin controller, low-dose doxorubicin group and high-dose doxorubicin group. All rats were passively smoked repeatedly, and were injected in sequence with lipopolysaccharide intratracheally, monocrotaline intraperitoneally, hydrocortisone intramuscularly, doxorubicin intraperitoneally. Then the activities, shape and spirit of rats were observed, the volume of urine were, determined, the cardiac structures and function were checked by heart ultrasound, and finally the rats were dissected to examinate the internal organs's conditions in the thoracic cavity and abdominal cavity. Results

  15. Dumping Syndrome

    Science.gov (United States)

    ... System & How it Works Digestive Diseases A-Z Dumping Syndrome What is dumping syndrome? Dumping syndrome occurs when food, especially sugar, ... the colon and rectum—and anus. What causes dumping syndrome? Dumping syndrome is caused by problems with ...

  16. Gorlin-Goltz Syndrome

    Directory of Open Access Journals (Sweden)

    Padma Pandeshwar

    2012-01-01

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

  17. [Postpartum endocrine syndrome].

    Science.gov (United States)

    Ducarme, G; Châtel, P; Luton, D

    2008-05-01

    Postpartum endocrine syndromes occur in the year after delivery. They are due to immunologic and vascular modifications during pregnancy. The Sheehan syndrome is the first described postpartum endocrine syndrome and consists on a hypophyse necrosis in relation with a hypovolemic shock during delivery. The immunologic consequences of the pregnancy are the most frequent, sometimes discrete and transitory. The physiological evolution of the endocrine glands during pregnancy and the most frequent post-partum endocrine syndromes are discussed: postpartum lymphocytic hypophysitis, thyroiditis and Sheehan' syndrome.

  18. Microcephaly syndromes.

    Science.gov (United States)

    Abuelo, Dianne

    2007-09-01

    The objective of this article is to review microcephaly from a genetics point of view, especially with regard to the process of identification of syndromes in which small head circumference occurs. Microcephaly can be due to either genetic or environmental causes. It can be the only positive finding or may be part of a syndrome of congenital anomalies. The genetic etiology can be caused by autosomal dominant, autosomal recessive, or X-linked genes or various types of chromosome anomalies. Some of the gene mutations have been identified recently. Syndromic microcephaly is associated with a large number of conditions. Some can be diagnosed, or at least suspected, based on their characteristic facial dysmorphism, and others can be searched for using databases of genetic disorders.

  19. Fraser syndrome

    DEFF Research Database (Denmark)

    Barisic, Ingeborg; Odak, Ljubica; Loane, Maria

    2013-01-01

    Fraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal, and urogenital malformations. We present a population-based epidemiological study using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network...... of birth defect registries. Between January 1990 and December 2008, we identified 26 cases of Fraser syndrome in the monitored population of 12,886,464 births (minimal estimated prevalence of 0.20 per 100,000 or 1:495,633 births). Most cases (18/26; 69%) were registered in the western part of Europe, where...... was particularly high (42%). Most cases of Fraser syndrome (85%) are suspected prenatally, often due to the presence of the association of renal agenesis and cryptophthalmos. In the European population, a high proportion (82%) of pregnancies is terminated, thus reducing the live birth prevalence to a third...

  20. [Autoinflammatory syndromes].

    Science.gov (United States)

    Gomes, José Melo; Gomes, Sónia Melo; Conde, Marta

    2010-01-01

    Autoinflammatory syndromes (AIS) are a heterogeneous group of congenital diseases characterized by the presence of recurrent episodes of fever and local or generalized inflammation, in the absence of infectious agents, detectable auto-antibodies or antigen-specific autoreactive T-cells. These diseases have been much better understood during the past 15 years, mainly due to the marked advances of the Human Genoma Project and its implications in the identification and characterization of genetic mutations. In this paper we make a revision of the classification of AIS and focus our attention specially on the cryopyrin-associated periodic syndromes (CAPS), in particular the CINCA syndrome that shares many clinical characteristics with juvenile idiopathic arthritis.