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Sample records for progeroid syndrome due

  1. Neonatal progeroid syndrome (Wiedemann-Rautenstrauch ...

    African Journals Online (AJOL)

    Rabah M. Shawky

    2012-04-20

    Apr 20, 2012 ... Wiedemann-Rautenstrauch syndrome;. Premature aging;. Milk teeth;. Nail dystrophy;. Cafe´ au lait skin patches. Abstract A female, 26 months old with features supporting the diagnosis of neonatal progeroid syndrome was presented. She had prenatal and postnatal growth failure, generalized lipoatrophy.

  2. Skeletal abnormalities of acrogeria, a progeroid syndrome

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    Ho, A.; White, S.J.; Rasmussen, J.E.

    1987-08-01

    We report the skeletal abnormalities in a 4 1/2-year-old boy with acrogeria, a progeroid syndrome of premature aging of the skin without the involvement of internal organs seen in Hutchinson-Gilford progeria syndrome. Acro-osteolysis of the distal phalanges, delayed cranial suture closure with wormian bones, linear lucent defects of the metaphyses, and antegonial notching of the mandible are the predominant skeletal features of the disorder. The skeletal features described in 21 other reported cases of acrogeria are summarized.

  3. An unidentified neonatal progeroid syndrome: follow-up report.

    Science.gov (United States)

    Wiedemann, H R

    1979-01-18

    Two male infants with a pseudo-hydrocephalic progeroid syndrome with natal teeth are compared with two very similar female cases reported in the literature and interpreted as congenital progeria. All these cases may represent a separate entity, a previously unrecognized genetic progeroid syndrome.

  4. Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy.

    Science.gov (United States)

    Passarge, Eberhard; Robinson, Peter N; Graul-Neumann, Luitgard M

    2016-08-01

    We review six previous reports between 2000 and 2014 of seven unrelated patients with mutations in the FBN1 gene affecting function. All mutations occurred in exon 64 of the FBN1 gene. A distinctive phenotype consisting of partial manifestations of Marfan syndrome, a progeroid facial appearance, and clinical features of lipodystrophy was present in all individuals. We suggest that this previously unknown genotype/phenotype relationship constitutes a new fibrillinopathy for which the name marfanoid-progeroid-lipodystrophy syndrome would be appropriate.

  5. Hallmarks of progeroid syndromes: lessons from mice and reprogrammed cells

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    Dido Carrero

    2016-07-01

    Full Text Available Ageing is a process that inevitably affects most living organisms and involves the accumulation of macromolecular damage, genomic instability and loss of heterochromatin. Together, these alterations lead to a decline in stem cell function and to a reduced capability to regenerate tissue. In recent years, several genetic pathways and biochemical mechanisms that contribute to physiological ageing have been described, but further research is needed to better characterize this complex biological process. Because premature ageing (progeroid syndromes, including progeria, mimic many of the characteristics of human ageing, research into these conditions has proven to be very useful not only to identify the underlying causal mechanisms and identify treatments for these pathologies, but also for the study of physiological ageing. In this Review, we summarize the main cellular and animal models used in progeria research, with an emphasis on patient-derived induced pluripotent stem cell models, and define a series of molecular and cellular hallmarks that characterize progeroid syndromes and parallel physiological ageing. Finally, we describe the therapeutic strategies being investigated for the treatment of progeroid syndromes, and their main limitations.

  6. An Xpb mouse model for combined xeroderma pigmentosum and cockayne syndrome reveals progeroid features upon further attenuation of DNA repair

    NARCIS (Netherlands)

    J.-O. Andressoo (Jaan-Olle); G. Weeda (Geert); J. de Wit (Jan); J.R. Mitchell (James); R.B. Beems (Rudolf); H. van Steeg (Harry); G.T.J. van der Horst (Gijsbertus); J.H.J. Hoeijmakers (Jan)

    2009-01-01

    textabstractPatients carrying mutations in the XPB helicase subunit of the basal transcription and nucleotide excision repair (NER) factor TFIIH display the combined cancer and developmental-progeroid disorder xeroderma pigmentosum/Cockayne syndrome (XPCS). Due to the dual transcription repair role

  7. From the rarest to the most common: insights from progeroid syndromes into skin cancer and aging.

    Science.gov (United States)

    Capell, Brian C; Tlougan, Brook E; Orlow, Seth J

    2009-10-01

    Despite their rarity, diseases of premature aging, or "progeroid" syndromes, have provided important insights into basic mechanisms that may underlie cancer and normal aging. In this review, we highlight these recent developments in Hutchinson-Gilford progeria syndrome (HGPS), Werner syndrome, Bloom syndrome, Cockayne syndrome, trichothiodystrophy, ataxia-telangiectasia, Rothmund-Thomson syndrome, and xeroderma pigmentosum. Though they are caused by different mutations in various genes and often result in quite disparate phenotypes, deciphering the molecular bases of these conditions has served to highlight their underlying basic similarities. Studies of progeroid syndromes, particularly HGPS, the most dramatic form of premature aging, have contributed to our knowledge of fundamental processes of importance to skin biology, including DNA transcription, replication, and repair, genome instability, cellular senescence, and stem-cell differentiation.

  8. Genetics and aging; the Werner syndrome as a segmental progeroid syndrome.

    Science.gov (United States)

    Martin, G M

    1985-01-01

    The maximum lifespan potential is a constitutional feature of speciation and must be subject to polygenic controls acting both in the domain of development and in the domain of the maintenance of macromolecular integrity. The enormous genetic heterogeneity that characterizes our own species, the complexities of numerous nature-nurture interactions, and the quantitative and qualitative variations of the senescent phenotype that are observed suggest that precise patterns of aging in each of us may be unique. Patterns of aging may also differ sharply among species (for example, semelparous vs. multiparous mammals). Some potential common denominators, however, allow one to identify progeroid syndromes in man that could lead to the elucidation of important pathways of gene action. (The suffix "-oid" means "like"; it does not mean identity.) Unimodal progeroid syndromes (eg., familial dementia of the Alzheimer type, an autosomal dominant) can help us understand the pathogenesis of a particular aspect of the senescent phenotype of man. Segmental progeroid syndromes (eg. the Werner syndrome, an autosomal recessive) may be relevant to multiple aspects of the senescent phenotype. Some results of research on the Werner syndrome may be interpreted as support for "peripheral" as opposed to "central" theories of aging; they are consistent with the view that gene action in the domain of development (adolescence, in this instance) can set the stage for patterns of aging in the adult; they point to the importance of mesenchymal cell populations in the pathogenesis of age-related disorders; finally, they underscore the role of chromosomal instability, especially in the pathogenesis of neoplasia.

  9. The neonatal progeroid syndrome (Wiedemann-Rautenstrauch): a model for the study of human aging?

    Science.gov (United States)

    Arboleda, Gonzalo; Ramírez, Nelson; Arboleda, Humberto

    2007-10-01

    The Wiedemann-Rautenstrauch syndrome (WRS) characterises a premature aging syndrome in which several features of human aging are apparent at birth therefore allowing their grouping as a neonatal progeroid condition. This differentiates WRS from other progeroid entities such as Hutchinson-Gilford progeria syndrome (HGPS) in which characteristics of premature aging become apparent some time after birth. The etiology of WRS remains unknown. Some studies have observed an autosomal recessive mode of inheritance. Several studies analysing telomere length and lamin A gene have not revealed any alterations. However, mutations in LMNA have been reported in several other atypical progeroid syndromes. Based on these observations, several hypothesis could be withdrawn concerning the etiology of WRS. The study of genes associated with lamin A metabolism, such as Zmpste24, and the metabolic pathways associated with insulin, such as protein kinase B or AKT, are of particular interest. We believe that WRS characteristics indicate that discovery of the gene and the metabolic pathway associated with this syndrome will most likely lead to new knowledge about the physiopathology of human aging.

  10. A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism.

    Science.gov (United States)

    Shastry, Savitha; Simha, Vinaya; Godbole, Koumudi; Sbraccia, Paolo; Melancon, Serge; Yajnik, Chittaranjan S; Novelli, Giuseppe; Kroiss, Matthias; Garg, Abhimanyu

    2010-10-01

    Mandibuloacral dysplasia (MAD) is an autosomal recessive progeroid disorder associated with type A (partial) or B (generalized) lipodystrophy and is due to mutations in lamin A/C (LMNA) or zinc metalloproteinase (ZMPSTE24) genes. The objective of the study was to report a novel syndrome with some overlapping features with MAD. We report seven patients with mandibular hypoplasia, deafness, progeroid features (MDP), and associated lipodystrophy. These patients have similar features to MAD patients such as hypoplastic mandible, beaked nose, stiff joints, and sclerodermatous skin. However, the patients did not harbor any disease causing variants in LMNA or ZMPSTE24 and showed distinct characteristics such as sensorineural hearing loss and absence of clavicular hypoplasia and acroosteolysis. All males with MDP had undescended testes and were hypogonadal. One adult female showed lack of breast development. Skinfold thickness, dual-energy X-ray absorptiometry and whole-body magnetic resonance imaging for body fat distribution revealed a lack of lipodystrophy in a prepubertal female but a progressive loss of sc fat presenting with partial lipodystrophy in young adults and generalized lipodystrophy in older patients. Patients with MDP syndrome have a few overlapping but some distinct clinical features as compared with MAD, suggesting that it is a novel syndrome. The molecular basis of MDP syndrome remains to be elucidated.

  11. Altered Nuclear Functions in Progeroid Syndromes: a Paradigm for Aging Research

    Directory of Open Access Journals (Sweden)

    Baomin Li

    2009-01-01

    Full Text Available Syndromes of accelerated aging could provide an entry point for identifying and dissecting the cellular pathways that are involved in the development of age-related pathologies in the general population. However, their usefulness for aging research has been controversial, as it has been argued that these diseases do not faithfully reflect the process of natural aging. Here we review recent findings on the molecular basis of two progeroid diseases, Werner syndrome (WS and Hutchinson-Gilford progeria syndrome (HGPS, and highlight functional connections to cellular processes that may contribute to normal aging.

  12. Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.

    Science.gov (United States)

    Jacquinet, Adeline; Verloes, Alain; Callewaert, Bert; Coremans, Christine; Coucke, Paul; de Paepe, Anne; Kornak, Uwe; Lebrun, Frederic; Lombet, Jacques; Piérard, Gérald E; Robinson, Peter N; Symoens, Sofie; Van Maldergem, Lionel; Debray, François-Guillaume

    2014-04-01

    We report a 16-year-old girl with neonatal progeroid features and congenital lipodystrophy who was considered at birth as a possible variant of Wiedemann-Rautenstrauch syndrome. The emergence of additional clinical signs (marfanoid habitus, severe myopia and dilatation of the aortic bulb) lead to consider the diagnosis of the progeroid variant of Marfan syndrome. A de novo donor splice-site mutation (c.8226+1G>A) was identified in FBN1. We show that this mutation leads to exon 64 skipping and to the production of a stable mRNA that should allow synthesis of a truncated profibrillin-1, in which the C-terminal furin cleavage site is altered. FBN1 mutations associated with a similar phenotype have only been reported in four other patients. We confirm the correlation between marfanoid phenotype with congenital lipodystrophy and neonatal progeroid features (marfanoid-progeroid-lipodystrophy syndrome) and frameshift mutations at the 3' end of FBN1. This syndrome should be considered in differential diagnosis of neonatal progeroid syndromes. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  13. [Neonatal progeroid syndrome (Wiedemann-Rautenstrauch). A follow-up study].

    Science.gov (United States)

    Rautenstrauch, T; Snigula, F; Wiedemann, H R

    1994-01-01

    The diagnostic criteria of the neonatal progeroid syndrome (NPS) are: intrauterine and postnatal growth failure, hydrocephalic appearance, prominent scalp veins, old-looking face, absence of subcutaneous fat and neonatal teeth. Until now altogether nine cases have been reported, which were predominant diagnosed in infant age. The NPS is in general assigned to the autosomal recessive trait. With increasing age the outward appearance stays unchanged. The in 1977 under diagnose progeria presented patient is now 16 years old. With her a considerable atactic movement disturbance developed next to a psychomotoric retardation. The change in metabolism of proteoglycane that was remarkable in infant age is now no longer provable.

  14. Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies.

    Science.gov (United States)

    Reinier, Frederic; Zoledziewska, Magdalena; Hanna, David; Smith, Josh D; Valentini, Maria; Zara, Ilenia; Berutti, Riccardo; Sanna, Serena; Oppo, Manuela; Cusano, Roberto; Satta, Rosanna; Montesu, Maria Antonietta; Jones, Chris; Cerimele, Decio; Nickerson, Deborah A; Angius, Andrea; Cucca, Francesco; Cottoni, Francesca; Crisponi, Laura

    2015-11-01

    Lipodystrophies are a large heterogeneous group of genetic or acquired disorders characterized by generalized or partial fat loss, usually associated with metabolic complications such as diabetes mellitus, hypertriglyceridemia and hepatic steatosis. Many efforts have been made in the last years in identifying the genetic etiologies of several lipodystrophy forms, although some remain to be elucidated. We report here the clinical description of a woman with a rare severe lipodystrophic and progeroid syndrome associated with hypertriglyceridemia and diabetes whose genetic bases have been clarified through whole-exome sequencing (WES) analysis. This article reports the 5th MDPL (Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome) patient with the same de novo p.S605del mutation in POLD1. We provided further genetic evidence that this is a disease-causing mutation along with a plausible molecular mechanism responsible for this recurring event. Moreover we overviewed the current classification of the inherited forms of lipodystrophy, along with their underlying molecular basis. Progress in the identification of lipodystrophy genes will help in better understanding the role of the pathways involved in the complex physiology of fat. This will lead to new targets towards develop innovative therapeutic strategies for treating the disorder and its metabolic complications, as well as more common forms of adipose tissue redistribution as observed in the metabolic syndrome and type 2 diabetes. Copyright © 2015 Elsevier Inc. All rights reserved.

  15. Wiedemann-Rautenstrauch (neonatal progeroid) syndrome: new case with normal telomere length in skin fibroblasts.

    Science.gov (United States)

    Korniszewski, L; Nowak, R; Oknińska-Hoffmann, E; Skórka, A; Gieruszczak-Białek, D; Sawadro-Rochowska, M

    2001-10-01

    Wiedemann-Rautenstrauch (neonatal progeroid) syndrome is an autosomal recessive condition with characteristic appearance of premature aging present at birth (aged face, natal teeth, and wrinkled skin). Other features of the syndrome are generalized lipoatrophy with specific fat accumulation in the lateral suprabuttock region, hypotrichosis, macrocephaly (pseudohydrocephalus), and mental retardation. We report on a new case that demonstrates all typical features of the syndrome. The girl is now 16 years and 10 months old and has had follow-up from birth. We measured terminal restriction fragment (TRF) length to evaluate whether the patient's premature aging process is accompanied by shortening of telomere length in her cultured fibroblasts. Mean TRF of 13.5 kb found in our patient's fibroblasts is not shortened as compared to that of normal fibroblasts. Our results differ from those observed in Hutchinson-Gilford progeria. Copyright 2001 Wiley-Liss, Inc.

  16. ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes.

    Science.gov (United States)

    Mori, Takayasu; Yousefzadeh, Matthew J; Faridounnia, Maryam; Chong, Jessica X; Hisama, Fuki M; Hudgins, Louanne; Mercado, Gabriela; Wade, Erin A; Barghouthy, Amira S; Lee, Lin; Martin, George M; Nickerson, Deborah A; Bamshad, Michael J; Niedernhofer, Laura J; Oshima, Junko

    2018-02-01

    Pathogenic variants in genes, which encode DNA repair and damage response proteins, result in a number of genomic instability syndromes with features of accelerated aging. ERCC4 (XPF) encodes a protein that forms a complex with ERCC1 and is required for the 5' incision during nucleotide excision repair. ERCC4 is also FANCQ, illustrating a critical role in interstrand crosslink repair. Pathogenic variants in this gene cause xeroderma pigmentosum, XFE progeroid syndrome, Cockayne syndrome (CS), and Fanconi anemia. We performed massive parallel sequencing for 42 unsolved cases submitted to the International Registry of Werner Syndrome. Two cases, each carrying two novel heterozygous ERCC4 variants, were identified. The first case was a compound heterozygote for: c.2395C > T (p.Arg799Trp) and c.388+1164_792+795del (p.Gly130Aspfs*18). Further molecular and cellular studies indicated that the ERCC4 variants in this patient are responsible for a phenotype consistent with a variant of CS. The second case was heterozygous for two variants in cis: c.[1488A > T; c.2579C > A] (p.[Gln496His; Ala860Asp]). While the second case also had several phenotypic features of accelerated aging, we were unable to provide biological evidence supporting the pathogenic roles of the associated ERCC4 variants. Precise genetic causes and disease mechanism of the second case remains to be determined. © 2017 Wiley Periodicals, Inc.

  17. Reversal of mitochondrial defects with CSB-dependent serine protease inhibitors in patient cells of the progeroid Cockayne syndrome.

    Science.gov (United States)

    Chatre, Laurent; Biard, Denis S F; Sarasin, Alain; Ricchetti, Miria

    2015-06-02

    UV-sensitive syndrome (UV(S)S) and Cockayne syndrome (CS) are human disorders caused by CSA or CSB gene mutations; both conditions cause defective transcription-coupled repair and photosensitivity. Patients with CS also display neurological and developmental abnormalities and dramatic premature aging, and their cells are hypersensitive to oxidative stress. We report CSA/CSB-dependent depletion of the mitochondrial DNA polymerase-γ catalytic subunit (POLG1), due to HTRA3 serine protease accumulation in CS, but not in UV(s)S or control fibroblasts. Inhibition of serine proteases restored physiological POLG1 levels in either CS fibroblasts and in CSB-silenced cells. Moreover, patient-derived CS cells displayed greater nitroso-redox imbalance than UV(S)S cells. Scavengers of reactive oxygen species and peroxynitrite normalized HTRA3 and POLG1 levels in CS cells, and notably, increased mitochondrial oxidative phosphorylation, which was altered in CS cells. These data reveal critical deregulation of proteases potentially linked to progeroid phenotypes in CS, and our results suggest rescue strategies as a therapeutic option.

  18. A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2.

    Science.gov (United States)

    Akawi, Nadia; Ali, Bassam; Al Gazali, Lihadh

    2013-07-01

    We report on a Palestinian family with three affected individuals exhibiting progeroid syndrome characterized by intrauterine growth retardation, a progeroid appearance, failure to thrive, short stature, and hypotonia. The progeroid features were evident at birth. All the affected members of this family have survived beyond the neonatal period and one of them is currently a 27-year-old adult. As parental consanguinity suggested an autosomal recessive mode of inheritance, we employed homozygosity mapping using single nucleotide polymorphism arrays followed by next generation whole exome sequencing to identify the disease-causing gene. We were able to identify a single block of homozygosity shared between all the affected members of the studied family spanning 2.3 Mb on chromosome 19p13.3p13.2. However, Sanger sequencing of known genes and whole exome sequencing of the three affected sibs did not reveal a convincing causal mutation. These findings are anticipated to open the way for the identification of the molecular causes underlying this syndrome. Copyright © 2013 Wiley Periodicals, Inc.

  19. Progeroid syndrome patients with ZMPSTE24 deficiency could benefit when treated with rapamycin and dimethylsulfoxide

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    Akinci, Baris; Sankella, Shireesha; Gilpin, Christopher; Ozono, Keiichi; Garg, Abhimanyu; Agarwal, Anil K.

    2017-01-01

    Patients with progeroid syndromes such as mandibuloacral dysplasia, type B (MADB) and restrictive dermopathy (RD) harbor mutations in zinc metalloproteinase (ZMPSTE24), an enzyme essential for posttranslational proteolysis of prelamin A to form mature lamin A. Dermal fibroblasts from these patients show increased nuclear dysmorphology and reduced proliferation; however, the efficacy of various pharmacological agents in reversing these cellular phenotypes remains unknown. In this study, fibroblasts from MADB patients exhibited marked nuclear abnormalities and reduced proliferation that improved upon treatment with rapamycin and dimethylsulfoxide but not with other agents, including farnesyl transferase inhibitors. Surprisingly, fibroblasts from an RD patient with a homozygous null mutation in ZMPSTE24, resulting in exclusive accumulation of prelamin A with no lamin A on immunoblotting of cellular lysate, exhibited few nuclear abnormalities and near-normal cellular proliferation. An unbiased proteomic analysis of the cellular lysate from RD fibroblasts revealed a lack of processing of vimentin, a cytoskeletal protein. Interestingly, the assembly of the vimentin microfibrils in MADB fibroblasts improved with rapamycin and dimethylsulfoxide. We conclude that rapamycin and dimethylsulfoxide are beneficial for improving nuclear morphology and cell proliferation of MADB fibroblasts. Data from a single RD patient's fibroblasts also suggest that prelamin A accumulation by itself might not be detrimental and requires additional alterations at the cellular level to manifest the phenotype. PMID:28050601

  20. Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.

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    Graul-Neumann, Luitgard M; Kienitz, Tina; Robinson, Peter N; Baasanjav, Sevjidmaa; Karow, Benjamin; Gillessen-Kaesbach, Gabriele; Fahsold, Raimund; Schmidt, Hartmut; Hoffmann, Katrin; Passarge, Eberhard

    2010-11-01

    We report on a 25-year-old woman with pronounced generalized lipodystrophy and a progeroid aspect since birth, who also had Marfan syndrome (MFS; fulfilling the Ghent criteria) with mild skeletal features, dilated aortic bulb, dural ectasia, bilateral subluxation of the lens, and severe myopia in addition to the severe generalized lipodystrophy. She lacked insulin resistance, hypertriglyceridemia, hepatic steatosis, and diabetes. Mutation analysis in the gene encoding fibrillin 1 (FBN1) revealed a novel de novo heterozygous deletion, c.8155_8156del2 in exon 64. The severe generalized lipodystrophy in this patient with progeroid features has not previously been described in other patients with MFS and FBN1 mutations. We did not find a mutation in genes known to be associated with congenital lipodystrophy (APGAT2, BSCL2, CAV1, PTRF-CAVIN, PPARG, LMNB2) or with Hutchinson-Gilford progeria (ZMPSTE24, LMNA/C). Other progeria syndromes were considered unlikely because premature greying, hypogonadism, and scleroderma-like skin disease were not present. Our patient shows striking similarity to two patients who have been published in this journal by O'Neill et al. [O'Neill et al. (2007); Am J Med Genet Part A 143A:1421-1430] with the diagnosis of neonatal progeroid syndrome (NPS). This condition also known as Wiedemann-Rautenstrauch syndrome is a rare disorder characterized by accelerated aging and lipodystrophy from birth, poor postnatal weight gain, and characteristic facial features. The course is usually progressive with early lethality. However this entity seems heterogeneous. We suggest that our patient and the two similar cases described before represent a new entity, a subgroup of MFS with overlapping features to NPS syndrome. © 2010 Wiley-Liss, Inc.

  1. Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature.

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    Guo, Michael H; Stoler, Joan; Lui, Julian; Nilsson, Ola; Bianchi, Diana W; Hirschhorn, Joel N; Dauber, Andrew

    2013-10-01

    Proteoglycans are a component of the extracellular matrix and are critical for cellular and tissue function. Mutations in proteoglycan components and enzymes involved in proteoglycan synthesis have been implicated in several growth disorders, with common features including short stature and skeletal dysplasia. For example, mutations in B4GALT7, a gene whose protein product catalyzes proteoglycan synthesis, have been associated with the rare progeroid variant of Ehlers-Danlos syndrome. Here, we conducted exome sequencing in a patient with a previously undiagnosed growth disorder and identified compound heterozygous mutations in B4GALT7. This patient is just the fourth individual with genetically confirmed progeroid variant of Ehlers-Danlos syndrome. The mutations include a previously characterized c.808C>T p.Arg270Cys substitution, and a novel c.122T>C p.Leu41Pro substitution. We demonstrate that the novel mutation caused decreased levels of the enzyme, supporting the pathogenicity of the mutation. Our report identifies a novel mutation in B4GALT7 causing the progeroid variant of Ehlers-Danlos syndrome and contributes an extensive phenotypic characterization of a patient with the syndrome. We also reviewed the previous literature in addition to the present patient, and conclude that the key features associated with B4GALT7 deficiency are short stature, developmental anomalies of the forearm bones and elbow, and bowing of the extremities, in addition to the classic features of Ehlers-Danlos syndrome. This report helps define the phenotype of the progeroid variant of Ehlers-Danlos syndrome and furthers our understanding of the effect of proteoglycan defects in growth disorders. Copyright © 2013 Wiley Periodicals, Inc.

  2. Molecular ageing in progeroid syndromes: Hutchinson-Gilford progeria syndrome as a model

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    da Nóbrega Raphael

    2009-04-01

    Full Text Available Abstract Hutchinson-Gilford progeria syndrome (HGPS is a rare premature aging disorder that belongs to a group of conditions called laminopathies which affect nuclear lamins. Mutations in two genes, LMNA and ZMPSTE24, have been found in patients with HGPS. The p.G608G LMNA mutation is the most commonly reported mutation. The aim of this work was to compile a comprehensive literature review of the clinical features and genetic mutations and mechanisms of this syndrome as a contribution to health care workers. This review shows the necessity of a more detailed clinical identification of Hutchinson-Gilford progeria syndrome and the need for more studies on the pharmacologic and pharmacogenomic approach to this syndrome.

  3. The cerebro-morphological fingerprint of a progeroid syndrome: white matter changes correlate with neurological symptoms in xeroderma pigmentosum.

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    Jan Kassubek

    Full Text Available BACKGROUND: Xeroderma pigmentosum (XP is a rare autosomal recessive progeroid syndrome. It has recently been shown that the underlying DNA repair defect plays a central role in the aging process. In addition to skin symptoms, various premature neurological abnormalities have been reported. METHODOLOGY/PRINCIPAL FINDINGS: We present the clinical neurological phenotype in 14 XP patients (seven subtypes, in seven of these patients together with conventional and multiparametric advanced MRI data to assess the macrostructural and microstructural cerebral morphology in comparison to controls, including volumetric measurements, MR spectroscopy ((1H MRS, and diffusion tensor imaging (DTI. Clinical hallmarks were spinocerebellar ataxia, pyramidal tract signs, and mild cognitive deficits. DTI demonstrated significantly reduced WM directionality in all regions investigated, i.e. the thalamus, the corticospinal tracts and the dorsal corpus callosum. Single patients showed a marked relative hippocampal volume reduction, but the patients were not different from controls in the volumetric measurements of hippocampal and whole brain volumes at group level. However, (1H MRS demonstrated that the hippocampal formation was metabolically altered. CONCLUSIONS: The most prominent feature was the white matter affectation, as assessed by DTI, with volume and directionality reductions of the fiber projections involving both the craniocaudal fibers and the interhemispheric connections. These findings, although heterogeneous among the study sample, could be correlated with the clinico-neurological symptoms. The imaging findings support the position that myelin structures degrade prematurely in the brain of XP patients.

  4. The Cerebro-Morphological Fingerprint of a Progeroid Syndrome: White Matter Changes Correlate with Neurological Symptoms in Xeroderma Pigmentosum

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    Kassubek, Jan; Sperfeld, Anne-Dorte; Pinkhardt, Elmar H.; Unrath, Alexander; Müller, Hans-Peter; Scharffetter-Kochanek, Karin; Ludolph, Albert C.; Berneburg, Mark

    2012-01-01

    Background Xeroderma pigmentosum (XP) is a rare autosomal recessive progeroid syndrome. It has recently been shown that the underlying DNA repair defect plays a central role in the aging process. In addition to skin symptoms, various premature neurological abnormalities have been reported. Methodology/Principal Findings We present the clinical neurological phenotype in 14 XP patients (seven subtypes), in seven of these patients together with conventional and multiparametric advanced MRI data to assess the macrostructural and microstructural cerebral morphology in comparison to controls, including volumetric measurements, MR spectroscopy (1H MRS), and diffusion tensor imaging (DTI). Clinical hallmarks were spinocerebellar ataxia, pyramidal tract signs, and mild cognitive deficits. DTI demonstrated significantly reduced WM directionality in all regions investigated, i.e. the thalamus, the corticospinal tracts and the dorsal corpus callosum. Single patients showed a marked relative hippocampal volume reduction, but the patients were not different from controls in the volumetric measurements of hippocampal and whole brain volumes at group level. However, 1H MRS demonstrated that the hippocampal formation was metabolically altered. Conclusions The most prominent feature was the white matter affectation, as assessed by DTI, with volume and directionality reductions of the fiber projections involving both the craniocaudal fibers and the interhemispheric connections. These findings, although heterogeneous among the study sample, could be correlated with the clinico-neurological symptoms. The imaging findings support the position that myelin structures degrade prematurely in the brain of XP patients. PMID:22363517

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

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    Elouej, Sahar; Beleza-Meireles, Ana; Caswell, Richard; Colclough, Kevin; Ellard, Sian; Desvignes, Jean Pierre; Béroud, Christophe; Lévy, Nicolas; Mohammed, Shehla; De Sandre-Giovannoli, Annachiara

    2017-06-01

    Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) is an autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, a characteristic facial appearance and metabolic abnormalities. This syndrome is caused by heterozygous de novo mutations in the POLD1 gene. To date, 19 patients with MDPL have been reported in the literature and among them 14 patients have been characterized at the molecular level. Twelve unrelated patients carried a recurrent in-frame deletion of a single codon (p.Ser605del) and two other patients carried a novel heterozygous mutation in exon 13 (p.Arg507Cys). Additionally and interestingly, germline mutations of the same gene have been involved in familial polyposis and colorectal cancer (CRC) predisposition. We describe a male and a female patient with MDPL respectively affected with mild and severe phenotypes. Both of them showed mandibular hypoplasia, a beaked nose with bird-like facies, prominent eyes, a small mouth, growth retardation, muscle and skin atrophy, but the female patient showed such a severe and early phenotype that a first working diagnosis of Hutchinson-Gilford Progeria was made. The exploration was performed by direct sequencing of POLD1 gene exon 15 in the male patient with a classical MDPL phenotype and by whole exome sequencing in the female patient and her unaffected parents. Exome sequencing identified in the latter patient a de novo heterozygous undescribed mutation in the POLD1 gene (NM_002691.3: c.3209T>A), predicted to cause the missense change p.Ile1070Asn in the ZnF2 (Zinc Finger 2) domain of the protein. This mutation was not reported in the 1000 Genome Project, dbSNP and Exome sequencing databases. Furthermore, the Isoleucine1070 residue of POLD1 is highly conserved among various species, suggesting that this substitution may cause a major impairment of POLD1 activity. For the second patient, affected with a typical MDPL phenotype, direct sequencing

  6. Transient progeroid phenotype and lipodystrophy in mosaic polyploidy.

    NARCIS (Netherlands)

    Karteszi, J.; Kosztolanyi, G.Y.; Czako, M.; Hadzsiev, K.; Morava, E.

    2006-01-01

    Wiedemann-Rautenstrauch syndrome is a rare disorder with a progressive course and early lethality. Severe mental and growth retardation, muscle hypotonia, a progeroid face, wrinkled skin, relative macrocephaly with late closure of the anterior fontanel, arachnodactyly and congenital heart defects

  7. 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.

  8. Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation.

    NARCIS (Netherlands)

    Verstraeten, V.L.; Broers, J.L.; Steensel, M.A.M. van; Zinn-Justin, S.; Ramaekers, F.C.S.; Steijlen, P.M.; Kamps, M.; Kuijpers, H.J.; Merckx, D.; Smeets, H.J.M.; Hennekam, R.C.M.; Marcelis, C.L.M.; Wijngaard, A. van de

    2006-01-01

    LMNA-associated progeroid syndromes have been reported with both recessive and dominant inheritance. We report a 2-year-old boy with an apparently typical Hutchinson-Gilford progeria syndrome (HGPS) due to compound heterozygous missense mutations (p.T528M and p.M540T) in LMNA. Both mutations affect

  9. Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation

    NARCIS (Netherlands)

    Verstraeten, Valerie L. R. M.; Broers, Jos L. V.; van Steensel, Maurice A. M.; Zinn-Justin, Sophie; Ramaekers, Frans C. S.; Steijlen, Peter M.; Kamps, Miriam; Kuijpers, Helma J. H.; Merckx, Diane; Smeets, Hubert J. M.; Hennekam, Raoul C. M.; Marcelis, Carlo L. M.; van den Wijngaard, Arthur

    2006-01-01

    LMNA-associated progeroid syndromes have been reported with both recessive and dominant inheritance. We report a 2-year-old boy with an apparently typical Hutchinson-Gilford progeria syndrome (HGPS) due to compound heterozygous missense mutations (p.T528M and p.M540T) in LMNA. Both mutations affect

  10. Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.

    Science.gov (United States)

    Takenouchi, Toshiki; Hida, Mariko; Sakamoto, Yoshiaki; Torii, Chiharu; Kosaki, Rika; Takahashi, Takao; Kosaki, Kenjiro

    2013-12-01

    Recently, three marfanoid patients with congenital lipodystrophy and a neonatal progeroid appearance were reported. Although their phenotype was distinct from that of classic Marfan syndrome, they all had a truncating mutation in the penultimate exon, i.e., exon 64, of FBN1, the causative gene for Marfan syndrome. These patients might represent a new entity, but the exact phenotypic and genotypic spectrum remains unknown. Here, we report on a girl born prematurely who exhibited severe congenital lipodystrophy and a neonatal progeroid appearance. The patient exhibited a characteristic growth pattern consisting of an accelerated growth in height with a discrepant poor weight gain. She had a characteristic facial appearance with craniosynostosis. A mutation analysis identified c.8175_8182del8bp, p.Arg2726Glufs*9 in exon 64 of the FBN1 gene. A review of similar, recently reported patients revealed that the cardinal features of these patients include (1) congenital lipodystrophy, (2) premature birth with an accelerated linear growth disproportionate to the weight gain, and (3) a progeroid appearance with distinct facial features. Lines of molecular evidence suggested that this new progeroid syndrome represents a neomorphic phenotype caused by truncated transcripts with an extremely charged protein motif that escapes from nonsense-mediated mRNA decay, altering FBN1-TGF beta signaling, rather than representing the severe end of the hypomorphic phenotype of the FBN1-TGF beta disorder spectrum. We propose that this marfanoid entity comprised of congenital lipodystrophy, a neonatal progeroid appearance, and a peculiar growth profile and caused by rare mutations in the penultimate exon of FBN1, be newly referred to as marfanoid-progeroid syndrome. © 2013 Wiley Periodicals, Inc.

  11. Transcriptional profiling reveals progeroid Ercc1-/Δ mice as a model system for glomerular aging

    NARCIS (Netherlands)

    B. Schumacher (Björn); V. Bartels (Valerie); P. Frommolt (Peter); B. Habermann (Bianca); F. Braun (Fabian); J.L. Schultze (Joachim); M. Roodbergen (Marianne); J.H.J. Hoeijmakers (Jan); P. Nürnberg (Peter); M.E.T. Dollé (Martijn); T. Benzing (Thomas); R.-U. Müller (Roman-Ulrich); C.E. Kurschat (Christine)

    2013-01-01

    textabstractBackground: Aging-related kidney diseases are a major health concern. Currently, models to study renal aging are lacking. Due to a reduced life-span progeroid models hold the promise to facilitate aging studies and allow examination of tissue-specific changes. Defects in genome

  12. Abdominal Compartment Syndrome due to OHSS

    OpenAIRE

    Firoozeh Veisi; Maryam Zangeneh; Shohreh Malekkhosravi; Negin Rezavand

    2012-01-01

    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 reductio...

  13. 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 ... or cancerous (malignant). Noncancerous tumors that can cause Cushing syndrome include: Adrenal adenomas, a common tumor that ...

  14. Natural Course of Neonatal Progeroid Syndrome

    Directory of Open Access Journals (Sweden)

    Jia-Woei Hou

    2009-06-01

    Conclusion: Increased chromosomal breakage and the presence of basal ganglia calcification after early childhood suggest that DNA repair defects are involved in the pathogenesis of this disorder. This rare disorder represents a complex of symptoms with unknown cause and pathogenesis, and more than one disease may account for the clinical variability of NPS.

  15. 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.

  16. [Hemophagocytic syndrome due to lung infection: a case report].

    Science.gov (United States)

    Korkmaz Ekren, Pervin; Ergin, Erhan; Göksel, Tuncay; Ozsan, Nazan; Hekimgil, Mine

    2011-01-01

    A 31-year-old man with pneumonia and ampiema was treated with antibiotics and drainage. Hemophagocytic syndrome, characterized with pancytopenia was arised during this treatment. Nosocomial infection due to pancytopenia was treated with antibiotics. Hemophagocytic syndrome was recovered spontaneously after the treatment of this nosocomial infection. Such a severe hemophagocytic syndrome due to infection is a rare condition.

  17. Embryonic expression of the common progeroid lamin A splice mutation arrests postnatal skin development.

    Science.gov (United States)

    McKenna, Tomás; Rosengardten, Ylva; Viceconte, Nikenza; Baek, Jean-Ha; Grochová, Diana; Eriksson, Maria

    2014-04-01

    Hutchinson-Gilford progeria syndrome (HGPS) and restrictive dermopathy (RD) are two laminopathies caused by mutations leading to cellular accumulation of prelamin A or one of its truncated forms, progerin. One proposed mechanism for the more severe symptoms in patients with RD compared with HGPS is that higher levels of farnesylated lamin A are produced in RD. Here, we show evidence in support of that hypothesis. Overexpression of the most common progeroid lamin A mutation (LMNA c.1824C>T, p.G608G) during skin development results in a severe phenotype, characterized by dry scaly skin. At postnatal day 5 (PD5), progeroid animals showed a hyperplastic epidermis, disorganized sebaceous glands and an acute inflammatory dermal response, also involving the hypodermal fat layer. PD5 animals also showed an upregulation of multiple inflammatory response genes and an activated NF-kB target pathway. Careful analysis of the interfollicular epidermis showed aberrant expression of the lamin B receptor (LBR) in the suprabasal layer. Prolonged expression of LBR, in 14.06% of the cells, likely contributes to the observed arrest of skin development, clearly evident at PD4 when the skin had developed into single-layer epithelium in the wild-type animals while progeroid animals still had the multilayered appearance typical for skin at PD3. Suprabasal cells expressing LBR showed altered DNA distribution, suggesting the induction of gene expression changes. Despite the formation of a functional epidermal barrier and proven functionality of the gap junctions, progeroid animals displayed a greater rate of water loss as compared with wild-type littermates and died within the first two postnatal weeks. © 2014 The Authors. Aging Cell published by the Anatomical Society and John Wiley & Sons Ltd.

  18. Recurrent De Novo Mutations Affecting Residue Arg1 38 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

    NARCIS (Netherlands)

    Fischer-Zirnsak, Bjoern; Escande-Beillard, Nathalie; Ganesh, Jaya; Tan, Yu Xuan; Al Bughaili, Mohammed; Lin, Angela E.; Sahai, Inderneel; Bahena, Paulina; Reichert, Sara L.; Loh, Abigail; Wright, Graham D.; Liu, Jaron; Rahikkala, Elisa; Pivnick, Eniko K.; Choudhri, Asim F.; Krueger, Ulrike; Zemojtel, Tomasz; van Ravenswaaij-Arts, Conny; Mostafavi, Roya; Stolte-Dijkstra, Irene; Symoens, Sofie; Pajunen, Leila; Al-Gazali, Lihadh; Meierhofer, David; Robinson, Peter N.; Mundlos, Stefan; Villarroel, Camilo E.; Byers, Peter; Masri, Amira; Robertson, Stephen P.; Schwarze, Ulrike; Callewaert, Bert; Reversade, Bruno; Kornak, Uwe

    2015-01-01

    Progeroid disorders overlapping with De Barsy syndrome (DBS) are collectively denoted as autosomal-recessive cutis laxa type 3 (ARCL3). They are caused by biallelic mutations in PYCR1 or ALDH18A1, encoding pyrroline-5-carboxylate reductase 1 and pyrroline-5-carboxylate synthase (P5CS), respectively,

  19. Hutchinson-Gilford progeria syndrome: a rare case report

    Directory of Open Access Journals (Sweden)

    Kalegowda Deepadarshan

    2016-04-01

    Full Text Available Progeroid syndromes are characterised by clinical features of physiological aging at an early age. Hutchinson-Gilford progeria syndrome is a type of progeroid syndrome, characterised by abnormal facies, bone abnormalities, sclerodermatous skin changes and retarded physical development. Average life expectancy of progeria patients is 13 years. Herein we are reporting a case of progeria who is 21 years old.

  20. Steven-Johnson syndrome due to unknown drugs [corrected].

    Science.gov (United States)

    Shivamurthy, Raghu Prasada M; Kallappa, Ravindra; Reddy, Shashikala G H; Rangappa, Druva Kumar B

    2012-01-01

    Steven-Johnson syndrome may be considered as a cytotoxic immune reaction to drugs, infections etc. This is a case report of Steven-Johnson syndrome due to an ayurvedic preparation which was used in the treatment of mental retardation in a young girl.

  1. Steven-Johnson syndrome due to ayurvedic drugs

    OpenAIRE

    Shivamurthy, Raghu Prasada M.; Kallappa, Ravindra; Reddy, Shashikala G. H.; Rangappa, Druva Kumar B.

    2012-01-01

    Steven?Johnson syndrome may be considered as a cytotoxic immune reaction to drugs, infections etc. This is a case report of Steven?Johnson syndrome due to an ayurvedic preparation which was used in the treatment of mental retardation in a young girl.

  2. 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...

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

    Directory of Open Access Journals (Sweden)

    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

  4. Mugwort-Mustard Allergy Syndrome due to Broccoli Consumption

    Directory of Open Access Journals (Sweden)

    Yuri Sugita

    2016-01-01

    Full Text Available Pollen-food allergy syndrome (PFAS is a relatively rare form of food allergy which develops in individuals who are sensitized to pollen. Tree pollens, especially birch pollen, frequently induce PFAS; however, the incidence of PFAS due to grass or weed pollens such as ragweed or mugwort is relatively rare. Mugwort-mustard allergy syndrome (MMAS is an example of a PFAS in which individuals sensitized to mugwort may develop an allergy to mustard and experience severe reactions. We herein describe a case of MMAS due to broccoli consumption.

  5. 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.

  6. [Skin manifestations of toxic syndrome due to denatured rapeseed oil].

    Science.gov (United States)

    Fonseca, E

    2009-12-01

    This article offered an extensive description of the clinical and pathological features and time-course of the skin manifestations of toxic syndrome caused by denatured rapeseed oil, also known as toxic oil syndrome. This new condition occurred in Spain in 1981 and was due to the ingestion of rapeseed oil intended for industrial use that had been denatured with anilines and subsequently refined and sold fraudulently as olive oil. In total, 20,000 cases and 400 deaths were reported. The disease affected mainly women, particularly in the late stages. In the acute phase, the predominant skin manifestations were toxic-allergic rashes reminiscent of allergic urticaria in the dermatopathologic study. In approximately 25% of cases, the patients' skin subsequently took on an edematous appearance, with pigmentary abnormalities shown to be related to cutaneous mucinosis. Finally, a characteristic sclerodermatous condition would develop that tended to improve spontaneously. The constant presence of mast cells in all biopsies and the development of mastocytosis in several patients pointed to an important role for these cells in the pathogenesis of the condition. This was subsequently confirmed in other sclerodermatous processes. In 1989, eosinophilia-myalgia syndrome caused by toxins present in tryptophan food supplements was reported in the United States. This syndrome resembled toxic oil syndrome in many ways and demonstrated that mucinosis and toxic sclerodermatous processes do exist.

  7. Emanuel syndrome due to unusual segregation of paternal origin.

    Science.gov (United States)

    Zaki, M S; Mohamed, A M; Kamel, A K; El-Gerzawy, A M S; El-Ruby, M O

    2012-01-01

    Emanuel syndrome is an inherited chromosomal abnormality resulting from 3:1 meiotic segregation from parental balanced translocation carrier t(11;22)(q23;q11), mostly of maternal origin. It is characterized by mental retardation, microcephaly, preauricular tag or sinus, ear anomalies, cleft or high arched palate, micrognathia, congenital heart diseases, kidney abnormalities, structural brain anomalies and genital anomalies in male. Here in, we describe a female patient with supernumerary der(22) syndrome (Emanuel syndrome) due to balanced translocation carrier father t(11;22) (q23;q11). She was mentally and physically disabled and had most of the craniofacial dysmorphism of this syndrome. Our patient had cleft palate, maldeveloped corpus callosum and hind brain with normal internal organs. Additionally, arachnodactyly, hyperextensibility of hand joints, abnormal deep palmar and finger creases, extra finger creases and bilateral talipus were evident and not previously described with this syndrome. Cytogenetic analysis and FISH documented that the patient had both translocation chromosomes plus an additional copy of der(22) with karyotyping: 47,XX,t(11; 22)(q23;q11),+der(22)t(11;22)(q23;q11). We postulated that this rare chromosomal complement can arise from; 2:2 segregation in the first meiotic division of the balanced translocation father followed by non-disjunction at meiosis II in the balanced spermatocyte.

  8. Cell-autonomous progeroid changes in conditional mouse models for repair endonuclease XPG deficiency.

    Directory of Open Access Journals (Sweden)

    Sander Barnhoorn

    2014-10-01

    Full Text Available As part of the Nucleotide Excision Repair (NER process, the endonuclease XPG is involved in repair of helix-distorting DNA lesions, but the protein has also been implicated in several other DNA repair systems, complicating genotype-phenotype relationship in XPG patients. Defects in XPG can cause either the cancer-prone condition xeroderma pigmentosum (XP alone, or XP combined with the severe neurodevelopmental disorder Cockayne Syndrome (CS, or the infantile lethal cerebro-oculo-facio-skeletal (COFS syndrome, characterized by dramatic growth failure, progressive neurodevelopmental abnormalities and greatly reduced life expectancy. Here, we present a novel (conditional Xpg-/- mouse model which -in a C57BL6/FVB F1 hybrid genetic background- displays many progeroid features, including cessation of growth, loss of subcutaneous fat, kyphosis, osteoporosis, retinal photoreceptor loss, liver aging, extensive neurodegeneration, and a short lifespan of 4-5 months. We show that deletion of XPG specifically in the liver reproduces the progeroid features in the liver, yet abolishes the effect on growth or lifespan. In addition, specific XPG deletion in neurons and glia of the forebrain creates a progressive neurodegenerative phenotype that shows many characteristics of human XPG deficiency. Our findings therefore exclude that both the liver as well as the neurological phenotype are a secondary consequence of derailment in other cell types, organs or tissues (e.g. vascular abnormalities and support a cell-autonomous origin caused by the DNA repair defect itself. In addition they allow the dissection of the complex aging process in tissue- and cell-type-specific components. Moreover, our data highlight the critical importance of genetic background in mouse aging studies, establish the Xpg-/- mouse as a valid model for the severe form of human XPG patients and segmental accelerated aging, and strengthen the link between DNA damage and aging.

  9. Posterior reversible encephalopathy syndrome due to seronegative systemic lupus erythematosus

    OpenAIRE

    Sawan Verma; Irfan Yousuf; Mushtaq Ahmad Wani; Ravouf Asimi; Sheikh Saleem; Mudasir Mushtaq; Irfan Shah; Skeikh Nawaz; Riyaz Ahmad Daga

    2014-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a neurotoxic state coupled with a unique computed tomography or magnetic resonance imaging (MRI) appearance. Recognized in the setting of a number of complex conditions (preeclampsia/eclampsia, allogeneic bone marrow transplantation, organ transplantation, autoimmune disease and high-dose chemotherapy) in the imaging, clinical and laboratory features of this toxic state are becoming better elucidated. We are presenting a case of PRES due ...

  10. 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.

  11. [Pelvic inflammatory disease due to Herlyn-Werner-Wunderlich syndrome].

    Science.gov (United States)

    Alumbreros-Andújar, Maria Trinidad; Aguilar-Galán, Esther Vanesa; Pérez-Parra, Celia; Céspedes-Casas, Carmen; Ramírez-Gómez, Mercedes; González-López, Ana

    2014-01-01

    Herlyn-Werner-Wunderlich syndrome is a congenital urogenital malformation that is associated with a uterus didelphys and a longitudinal vaginal septum, resulting in a blind hemivagina and ipsilateral renal agenesis. Clinical presentation is highly variable, delaying diagnosis and leading to important complications. We present the case of a 13-year-old female who was diagnosed with Herlyn-Werner-Wunderlich syndrome following an acute abdomen due to a right tubo-ovarian abscess. She had a vaginal septum giving rise to a right blind hemivagina. It was microperforated, causing intermittent genital bleeding. This hematocolpos was colonized by microorganisms that ascended to the pelvic cavity, causing right tuboovarian abscess. Nuclear magnetic resonance imaging provided theWernermost diagnostic information. We performed a vaginal septum resection, and both hemiuteros communicated with a single vagina, resulting in an asymptomatic patient. Herlyn-Werner-Wunderlich syndrome is a little known entity and can be presented atypically, resulting in diagnostic difficulty and treatment delay. It is important to be aware of this syndrome in order to avoid irreversible complications.

  12. [Moebius syndrome due to the use of misoprostol. Case report].

    Science.gov (United States)

    Sánchez, Otto; Guerra, Dania

    2003-06-01

    We report a patient affected with Moebius Syndrome (OMIM 157900) due to the use of misoprostol during the first trimester of the pregnancy, when abortion was intended twice using this drug, vias vaginal (600 mg) and oral (900 mg), with failure to induce abortion on both occasions. Since the use of misoprostol for abortion, without any medical indication or supervision, appears to be rather frequent in our population and since there are reports of severe malformations in children born after failed intents of abortion with this medication, it is necessary to alert the medical community and the population in general about the teratogenic risks of this drug.

  13. Posterior reversible encephalopathy syndrome due to seronegative systemic lupus erythematosus

    Directory of Open Access Journals (Sweden)

    Sawan Verma

    2014-09-01

    Full Text Available Posterior reversible encephalopathy syndrome (PRES is a neurotoxic state coupled with a unique computed tomography or magnetic resonance imaging (MRI appearance. Recognized in the setting of a number of complex conditions (preeclampsia/eclampsia, allogeneic bone marrow transplantation, organ transplantation, autoimmune disease and high-dose chemotherapy in the imaging, clinical and laboratory features of this toxic state are becoming better elucidated. We are presenting a case of PRES due to seronegative systemic lupus erythematosus, with MRI findings of diffuse vasogenic edema.

  14. Alcock canal syndrome due to obturator internus muscle fibrosis.

    Science.gov (United States)

    Insola, Angelo; Granata, Giuseppe; Padua, Luca

    2010-09-01

    Alcock canal syndrome is a rare entrapment neuropathy of the pudendal nerve. We report a case of perineal neuralgia where pudendal nerve compression was due to fibrosis of the obturator internus muscle following an injury of the muscle. After being misdiagnosed for 2 years, the patient was diagnosed only after a combined neurophysiologic and magnetic resonance imaging (MRI) investigation. This case underlines the importance of performing focused neurophysiologic and neuroimaging studies in patients with neuropathic perineal pain in order to reach a correct diagnosis.

  15. hypertensive intracranial bleed due to mid aortic syndrome.

    Science.gov (United States)

    Poovazhagi, Varadarajan; Pauline, Leema; Balakrishnan, N

    2014-03-01

    The authors describe an 11-y-old child with intracranial bleed due to malignant hypertension. Child presented with hypertension, right hemiparesis, feeble femoral pulses and lower limb blood pressure less than the upper limb. CT angiogram revealed narrowing of the abdominal aorta with thinned out left renal artery and hypoplasia of the left kidney. A diagnosis of Mid aortic syndrome was arrived at. CT brain revealed left ganglio capsular bleed. Child was treated with antihypertensives and steriods in view of suspected Takayasu arteritis. Child recovered with minimal hemiparesis and is being followed up.

  16. Cushing's syndrome due to interaction between inhaled corticosteroids and itraconazole.

    Science.gov (United States)

    Bolland, Mark J; Bagg, Warwick; Thomas, Mark G; Lucas, Jennifer A; Ticehurst, Rob; Black, Peter N

    2004-01-01

    To report a case of an interaction between inhaled corticosteroids and itraconazole causing iatrogenic Cushing's syndrome and provide a review of the relevant literature. A 70-year-old white woman on long-term treatment with high-dose inhaled corticosteroids for asthma was diagnosed as having Scedosporium apiospermum infection of the skin and subcutaneous tissues. As a result, she was treated with itraconazole for 2 months. She subsequently developed Cushing's syndrome due to a probable cytochrome P450-mediated interaction between itraconazole and budesonide. She also had secondary adrenal insufficiency requiring prolonged treatment with replacement hydrocortisone. Budesonide is a potent glucocorticoid that is metabolized in the liver by the CYP3A4 isoenzyme to inactive metabolites. Itraconazole is a potent cytochrome P450 inhibitor. It can inhibit the metabolism of oral or inhaled corticosteroids, producing cortisol excess leading to Cushing's syndrome and adrenal insufficiency. An assessment of causality indicated a possible adverse interaction between itraconazole and budesonide. The combination of itraconazole and inhaled corticosteroids is increasingly being used to treat conditions such as allergic bronchopulmonary aspergillosis. Clinicians need to be aware of the potential for an interaction between such a combination.

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

    Science.gov (United States)

    Butler, Merlin G

    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% of individuals with PWS have a de novo deletion of the paternally derived 15q11-q13 region in which there are two subtypes (i.e., larger Type I or smaller Type II), maternal disomy 15 (both 15s from the mother) in about 25% of cases, and the remaining subjects have either defects in the imprinting center controlling the activity of imprinted genes or due to other chromosome 15 rearrangements. PWS is characterized by a particular facial appearance, infantile hypotonia, a poor suck and feeding difficulties, hypogonadism and hypogenitalism in both sexes, short stature and small hands and feet due to growth hormone deficiency, mild learning and behavioral problems (e.g., skin picking, temper tantrums) and hyperphagia leading to early childhood obesity. Obesity is a significant health problem, if uncontrolled. PWS is considered the most common known genetic cause of morbid obesity in children. The chromosome 15q11-q13 region contains approximately 100 genes and transcripts in which about 10 are imprinted and paternally expressed. This region can be divided into four groups: 1) a proximal non-imprinted region; 2) a PWS paternal-only expressed region containing protein-coding and non-coding genes; 3) an Angelman syndrome region containing maternally expressed genes and 4) a distal non-imprinted region. This review summarizes the current understanding of the genetic causes, the natural history and clinical presentation of individuals with PWS. PMID:22043168

  18. Cavernous sinus syndrome due to osteochondromatosis in a cat.

    Science.gov (United States)

    Perazzi, Anna; Bernardini, Marco; Mandara, Maria T; De Benedictis, Giulia M; De Strobel, Francesca; Zotti, Alessandro

    2013-12-01

    A 1-year-old sexually intact male Korat cat was referred for ophthalmological consultation due to anisocoria. Mydriasis with external ophthalmoplegia and absence of pupillary light responses in the right eye and nasofacial hypalgesia were seen. Cavernous sinus syndrome (CSS) was suspected. Bilateral deformities of the jaw and phalangeal bones, severe spinal pain and abnormal conformation of the lumbar spine were also present. Radiographic examination revealed several mineralised masses in the appendicular and axial skeleton, indicative of multiple cartilaginous exostoses. For further investigation of the CSS-related neurological deficits, the cat underwent computed tomography (CT) examination of the skull. CT images revealed a non-vascularised, calcified, amorphous mass originating from the right lateral skull base and superimposing on the sella turcica. Based on the severity of diffuse lesions and owing to the clinical signs of extreme pain, the cat was euthanased. A diffuse skeletal and intracranial osteochondromatosis was diagnosed histologically.

  19. 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.

  20. [Callosal disconnection syndrome due to acute disseminated enchephalomyelitis].

    Science.gov (United States)

    Tanaka, Yuji; Nishida, Hiroshi; Hayashi, Rumiko; Inuzuka, Takashi; Otsuki, Mika

    2006-01-01

    We have reported a very rare case of a patient with callosal disconnection syndrome due to acute disseminated enchephalomyelitis (ADEM). A 54-year-old right-handed woman developed sudden consciousness disturbance and fever after 2 weeks when she had common cold. She did not have a history of stuttering. On admission, the neurological finding showed consciousness disturbance, and exaggerated muscle stretch reflex in four extremities without meningeal irritation. The cerebrospinal fluid examination revealed the cell counts of 273/mm3, the protein of 348 mg/dl and the myelin basic protein 18.3 pg/ml. The brain MRI demonstrated a focal high signal intensity in the right cerebellar peduncle, right temporal lobe, left occipital lobe and corpus callosum on the T2-weighted and FLAIR images. The lesion of corpus callosum was the trunk and splenium, sparing the dorsal side of splenium. Her diagnosis was ADEM. The steroid pulse therapy (metylpredinisolone 1 g/day for 3 days) improved the consciousness disturbance. After 6 weeks from the onset, the neuropsycological examination was performed. The remarkable findings included pure alexia without color naming defects, the acquired stuttering and one-way disturbance of somesthetic transfer from the left hand to the right. This patient may contribute to the study of functional localization of the corpus callosum.

  1. 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.

  2. Coracoid impingement syndrome due to intensive rock climbing training.

    Science.gov (United States)

    Schöffl, Volker; Schneider, Hans; Küpper, Thomas

    2011-06-01

    Overuse and acute injuries to the upper body are common in rock climbing. Such injuries primarily affect the fingers; but shoulder problems are increasingly common, especially among more experienced and older climbers who climb at a high ability level. Such shoulder problems are often due to subacromial impingement, shoulder dislocations with bankart lesions, hyperlaxity, SLAP lesions or irritations of the long biceps tendon. In contrast to these known conditions, we describe a case of an ambitious female rock climber who trained intensively and developed a coracoid impingement caused by hypertrophied subscapularis tendon and muscle following sport-specific training. Diagnosis was made through clinical evaluation and confirmed by magnetic resonance tomography. Coracoid impingement syndrome is a less common cause of shoulder pain and occurs when the subscapularis tendon impinges between the coracoid and the lesser tuberosity of the humerus. The patient was treated successfully with a conservative therapy and returned to full activity within 6 weeks. Copyright © 2011 Wilderness Medical Society. Published by Elsevier Inc. All rights reserved.

  3. 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.

  4. Angelman Syndrome Due to UBE3A Gene Mutation.

    Science.gov (United States)

    Goswami, Jyotindra Narayan; Sahu, Jitendra Kumar; Singhi, Pratibha

    2017-12-18

    A 12-y-old boy presented with developmental delay, autism, epilepsy, limb tremors and behavioral problems which posed a diagnostic challenge. Though his clinical profile and electroencephalogram were suggestive of Angelman syndrome, initial genetic tests were unyielding. Exome sequencing revealed a previously unreported mutation of Ubiquitin Protein Ligase E3A (UBE3A) gene, confirming the diagnosis of Angelman syndrome. The case is aimed to sensitize pediatricians about Angelman syndrome and to highlight the role of sequential investigations in establishing the diagnosis.

  5. 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....

  6. Pelvic inflammatory disease due to Herlyn-Werner-Wunderlich syndrome

    National Research Council Canada - National Science Library

    Alumbreros-Andújar, Maria Trinidad; Aguilar-Galán, Esther Vanesa; Pérez-Parra, Celia; Céspedes-Casas, Carmen; Ramírez-Gómez, Mercedes; González-López, Ana

    2014-01-01

    Herlyn-Werner-Wunderlich syndrome is a congenital urogenital malformation that is associated with a uterus didelphys and a longitudinal vaginal septum, resulting in a blind hemivagina and ipsilateral renal agenesis...

  7. 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....

  8. 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.

  9. Down Syndrome-Associated Diabetes Is Not Due To a Congenital Deficiency in β Cells.

    Science.gov (United States)

    Butler, Alexandra E; Sacks, Wendy; Rizza, Robert A; Butler, Peter C

    2017-01-01

    We sought to establish whether the increased incidence of diabetes associated with Down syndrome was due to a congenital deficit in β cells. The pancreas was obtained at autopsy from nondiabetic subjects with Down syndrome (n = 29) and age-matched nondiabetic control subjects without Down syndrome (n = 28). The pancreas sections were evaluated for the fractional β-cell area. No difference was found in the fractional β-cell area between the subjects with Down syndrome and the control subjects. The increased incidence and prevalence of diabetes in individuals with Down syndrome is not due to an underlying congenital deficiency of β cells.

  10. 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.

  11. Serotonin Syndrome Due to Overdose Intake of SSRI

    Directory of Open Access Journals (Sweden)

    Yavuz Orak

    2015-08-01

    Full Text Available Serotonin syndrome is a drug side effect resulting from serotonergic hyperactivity. The severity of its symptoms can be mild and overlooked and sometimes it may cause life-threatening serious consequences. This syndrome is caused by the administration of one or more drugs having serotonergic activity. This case is a 25-year-old female patient who attempted suicide by ingesting an overdose of her prescription medications: 60 units of 100-mg Faver (Fluvoxamine, 20 units of 50-mg Setral (Setraline, and 10 units of 20-mg Paxil (Paroxetine.

  12. 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

  13. latrogenic chronic compartment syndrome of leg due to ruptured ...

    African Journals Online (AJOL)

    A 45 year old male complaining of chronic pain and swelling of his left calf with features suggestive of chronic compartment syndrome following therapeutic aspiration of a popliteal cyst has been presented. It is a rare type of presentation which has not been reported to the knowledge of the authors. Review of literature and

  14. Adult Kasabach-Merritt Syndrome due to Hepatic Giant Hemangioma

    Directory of Open Access Journals (Sweden)

    Ahmet Aslan

    2009-11-01

    Full Text Available Cavernous hemangiomas are the most common benign tumors of the liver. They can reach enormous sizes and cause various complications. Kasabach-Merritt syndrome is a rare but serious complication characterized by consumptive coagulopathy caused by the hemangioma; mortality rate ranges between 10 and 37%. More than 80% of cases occur within the first year of life. Goals of the treatment are to control the coagulopathyand thrombocytopenia as well as to eradicate the hemangioma. Different nonsurgical treatment regimens are performed, includingsystemic corticosteroids, irradiation and various chemicals. Surgery should be limited to symptomatic or complicated cases. Although difficult, resection of the tumor is usually curative. Here we present a 44-year-old woman with giant hepatic hemangioma causing Kasabach-Merritt syndrome managed by enucleation.

  15. Renal tubular acidosis due to the milk-alkali syndrome.

    Science.gov (United States)

    Rochman, J; Better, O S; Winaver, J; Chaimowitz, C; Barzilai, A; Jacobs, R

    1977-06-01

    A 60-year-old man with a history of excessive ingestion of calcium carbonate presented with azotemia, hypercalcemia and hyperphosphatemia. His acid-base status was initially normal. Following the cessation of calcium carbonate treatment, the hypercalcemia and azotemia disappeared, and the patient was found to be in metabolic acidosis with blunted acid excretion and a urine pH of 6.1. Kidney biopsy showed focal tubular calcification; the tubular damage was apparently caused by hypercalcemia and had resulted in renal tubular acidosis. During the three months of observation since that time there has been a tendecy for spontaneous remission of the renal tubular acidosis. Impaired renal hydrogen ion excretion prevented the development of metabolic alkalosis despite ingestion of alkali initially, and was later responsible for the metabolic acidosis. Renal tubular acidosis occurring as a sequel to the milk-alkali syndrome may aggravate the danger of nephrocalcinosis in this syndrome.

  16. Trigeminal neuralgia due to Dandy-Walker syndrome.

    Science.gov (United States)

    Zhang, Wenhao; Chen, Minjie; Zhang, Weijie

    2013-07-01

    Trigeminal neuralgia (TN) is a common pain in the orofacial region. Dandy-Walker syndrome (DWS) is a congenital malformation of the cerebellar and the fourth ventricle foramina atresia. Dandy-Walker syndrome is rarely found in patients with TN. This article presents a 36-year-old man with the symptoms of typical TN. His physical examination was entirely normal. An enhanced magnetic resonance imaging was taken. Magnetic resonance imaging revealed the bilateral lateral ventricle, the fourth and third ventricle significantly enlarged with severe obstructive hydrocephalus, a huge posterior fossa cyst connected with the fourth ventricle, and hypoplastic vermis. The pain was controlled by Tegretol. The reported case suggests that DWS is an unusual cause of TN.

  17. Adult Kasabach-Merritt Syndrome due to Hepatic Giant Hemangioma

    OpenAIRE

    Ahmet Aslan; Andreas Meyer zu Vilsendorf; Moritz Kleine; Martin Bredt; Hüseyin Bektas

    2009-01-01

    Cavernous hemangiomas are the most common benign tumors of the liver. They can reach enormous sizes and cause various complications. Kasabach-Merritt syndrome is a rare but serious complication characterized by consumptive coagulopathy caused by the hemangioma; mortality rate ranges between 10 and 37%. More than 80% of cases occur within the first year of life. Goals of the treatment are to control the coagulopathyand thrombocytopenia as well as to eradicate the hemangioma. Different nonsurgi...

  18. Outbreak of exogenous Cushing's syndrome due to unlicensed medications.

    Science.gov (United States)

    Azizi, Fereidoun; Jahed, Adel; Hedayati, Mehdi; Lankarani, Mahnaz; Bejestani, Hadi Shahrad; Esfahanian, Fatemeh; Beyraghi, Nargues; Noroozi, Alireza; Kobarfard, Farzad

    2008-12-01

    Despite the widespread medical use of glucocorticoids, reports of factitious administration of these hormones have been uncommon. We herein report an outbreak of Cushing's syndrome in Tehran among the addicts using Tamgesic (a brand of Buprenorphine) to help them through the narcotic withdrawal stage, without knowledge of the glucocorticoid content of the black-market drug. Case histories of 19 patients with a final diagnosis of iatrogenic Cushing's syndrome were reviewed. Liquid chromatography/mass spectrometry (LC-Mass) method was used to evaluate glucocorticoid existence in the brand. High performance liquid chromatography was used to determine plasma dexamethasone level. No buprenorphine was present in the vials. Each Tamgesic vial contained 0.4 mg of Dexamethasone disodium phosphate; Heroin was also found in them. The duration of injection abuse and the total dexamethasone intake was 4.5 (1-18) months and 2.6 (0.8-8) mg/day, respectively. Median plasma dexamethasone concentration was 5.8 nmol/l, with a range of 5-8.7. Physical findings of the cases were not different from those of the classic endogenous Cushing's syndrome but their serum cortisol and urinary free cortisol were suppressed. Severe life-threatening complications were demonstrated in five cases. Surreptitious use of steroids resulting in Cushing's syndrome may be more common in opium addicts; a high degree of suspicion is needed to uncover this disorder. Whenever facing a cushingoid appearance in addicts, the possibility of using black market drugs with corticosteroid contents should be kept in mind.

  19. 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.

  20. Dysmetropsia and Cotard's syndrome due to migrainous infarction - or not?

    Science.gov (United States)

    Parks, Natalie E; Rigby, Heather B; Gubitz, Gordon J; Shankar, Jai J; Purdy, R Allan

    2014-08-01

    Migrainous infarction accounts for 12.8% of ischemic strokes of unusual etiology. A 59-year-old woman with longstanding migraine with aura experienced what appeared to be migrainous infarction characterized by dysmetropsia and transient Cotard's syndrome. Imaging demonstrated right temporal-parietal-occipital changes with apparent cortical laminar necrosis. The spectrum of the pathophysiology of migrainous infarction has not been established; however, cortical spreading depression may explain the appearance of imaging findings that do not obey a vascular territory. © International Headache Society 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

  1. 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.

  2. Severe Hypoglycemic Coma due to Insulin Autoimmune Syndrome

    Directory of Open Access Journals (Sweden)

    Wen-Ya Ma

    2005-02-01

    Full Text Available Insulin autoimmune syndrome, characterized by the presence of insulin-binding autoantibodies and fasting or late postprandial hypoglycemia, is a rare cause of hypoglycemia. We report a patient with pulmonary tuberculosis who developed recurrent spontaneously post-absorptive hyperinsulinemic hypoglycemia after treatment with anti-tuberculous drugs. Imaging studies of the pancreas were unremarkable, and selective intra-arterial calcium stimulation with hepatic venous sampling for insulin failed to show a gradient, thus almost completely excluding the possibility of occult insulinoma or nesidioblastosis. Examinations of sera, however, disclosed a high titer of polyclonal insulin-binding autoantibodies containing at least 2 classes of binding sites, 1 with high affinity but low capacity, and the other with low affinity but high capacity. An oral glucose tolerance test revealed high serum levels of total insulin associated with relatively low levels of free insulin, but not of C-peptide, suggesting binding of the released insulin to autoantibodies. Regretfully, shortly after the withdrawal of isoniazid, the patient died of respiratory failure unrelated to hypoglycemia, and whether these antibodies were induced by isoniazid remains unknown. We recommend that insulin autoimmune syndrome be one of the differential diagnoses in patients with hyperinsulinemic hypoglycemia.

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

    OpenAIRE

    Takeshi Kusunoki; Kaori Kase; Katsuhisa Ikeda

    2011-01-01

    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,...

  4. [A case of Reye's-like syndrome due to suspected Bordetella pertussis infection in an adult].

    Science.gov (United States)

    Ikeda, Kenichi; Sonoda, Ken

    2009-11-01

    We report a rare case of Reye's-like syndrome associated with suspected pertussis infection. A 26-year-old woman admitted comatose and found in laboratory studies to have acute liver dysfunction, severe hypoglycemia and prolonged prothrombin time, was diagnosed with clinical Reye's-like syndrome due to aspirin use. Her child was probably infected with pertussis, which she contracted and which, in turn, triggered Reye's-like syndrome.

  5. Dysenteric syndrome due to Balantidium coli: a case report.

    Science.gov (United States)

    Bellanger, Anne-Pauline; Scherer, Emeline; Cazorla, Arnault; Grenouillet, Frederic

    2013-04-01

    A 28-year-old man was hospitalized for a dysenteric syndrome that had developed during the previous days. Physical examination revealed abdominal pains, fever, vomiting and more than ten liquid stools per day. Fresh stool examination showed numerous mobile ciliated trophozoites of Balantidium coli. The patient reported having been on a hike the previous weekend during which he had drunk water through a hydration pouch bladder. Complete resolution was observed after intravenous rehydration and ten days of oral treatment with metronidazole (Flagyl®). Balantidium coli is the largest ciliate protozoan able to infect humans. This parasite is common in pigs and has a worldwide distribution. Human infections, a rare event in industrialised countries, are usually acquired by ingestion of food or water contaminated by mammal faeces. Human B. coli infections are easily treated but may be severe and even fatal if neglected.

  6. 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.

  7. 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.

  8. 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.

  9. 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.

  10. Gluteal compartment syndrome due to prolonged immobilization after alcohol intoxication: a case report.

    Science.gov (United States)

    Iizuka, Shinichi; Miura, Naoyuki; Fukushima, Tomokazu; Seki, Tomoko; Sugimoto, Katuhiko; Inokuchi, Sadaki

    2011-07-20

    Gluteal compartment syndrome is a relatively rare condition that mostly result from atraumatic causes such as prolonged immobilization due to drug abuse or alcoholic intoxication and incorrect positioning during surgical procedures rather than traumatic causes. Early diagnosis is difficult and sometimes delayed or overlooked because of poor physical signs resulting from altered mental status and inappropriate diagnosis by clinicians. It has been reported that more than half of the cases of gluteal compartment syndrome are associated with crush syndrome and sciatic nerve palsy. Early diagnosis and immediate fasciotomy are necessary to improve the functional prognosis. Here, we report the case of a patient with gluteal compartment syndrome caused by prolonged immobilization after acute alcoholic intoxication. After disease onset, the patient developed complications of crush syndrome and sciatic nerve palsy, but immediate fasciotomy improved his condition.

  11. 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.

  12. Bilateral Tarsal Tunnel Syndrome Due To Bilateral Lipoma: A Case Report

    Directory of Open Access Journals (Sweden)

    C. Eren CANSÜ, İstemi YÜCEL, Kutay ÖZTURAN

    2010-11-01

    Full Text Available Tarsal tunnel syndrome is an entrapment neuropathy of posterior tibial nerve under the flexorretinaculum. Patients generally present with paresthesias on the plantar side of foot and fingersand in the distal kruris.The causes of tarsal tunnel syndrome are space occupying lesions within or around the tunnelwhich exert pressure to the nerve, ankle deformities, systemic illnesses, trauma or lesions ofthe nerve itself.In this study a case of tarsal tunnel syndrome due to bilateral lipoma which was treated surgicallyis presented.

  13. 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

  14. Pathologic Femoral Neck Fracture Due to Fanconi Syndrome Induced by Adefovir Dipivoxil Therapy for Hepatitis B

    OpenAIRE

    Lee, Yoon-Suk; Kim, Byung-Kook; Lee, Ho-Jae; Dan, Jinmyoung

    2016-01-01

    In Fanconi syndrome, hypophosphatemic osteomalacia is caused by proximal renal tubule dysfunction which leads to impaired reabsorption of amino acids, glucose, urate, and phosphate. We present a rare case of a 43-year-old Korean male who was found to have insufficiency stress fracture of the femoral neck secondary to osteomalacia due to Fanconi syndrome. He had been receiving low-dose adefovir dipivoxil (ADV, 10 mg/day) for the treatment of chronic hepatitis B virus infection for 7 years and ...

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

    Science.gov (United States)

    Nagotkar, Leena; Shanbag, Preeti; Mauskar, Anupama; Zaki, Syed Ahmed; Kumar, Chaya A

    2011-07-01

    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.

  16. Steven Johnson syndrome due to I.V Ceftriaxone--a case report.

    OpenAIRE

    Narayanan Veena; Mamatha G; Ashok L; Rajashekar N

    2003-01-01

    Steven-Johnson syndrome (SJS) is a rare vesiculobullous disease characterized by an acute cutaneous eruption that ivolves the skin and mucous membranes including those of the oral cavity. A rare case of Steven-Johnson syndrome, an unexpected treatment response, in a 25-year-old female patient due to administration of intravenous Cefriaxone (1 gm), a third generation cephalosporin has been reported and literature reviewed.

  17. Two cases of Cushing's syndrome due to overuse of topical steroid in the diaper area.

    Science.gov (United States)

    Semiz, Serap; Balci, Yasemin Işik; Ergin, Seniz; Candemir, Maşallah; Polat, Aziz

    2008-01-01

    Topical use of corticosteroids may cause immunosuppression and iatrogenic Cushing's syndrome via hypothalamic-pituitary-adrenal axis. We report two cases with iatrogenic Cushing's syndrome with different clinical outcomes due to abuse of same potent topical steroid clobetasol propionate. One of them died because of fatal disseminated cytomegalovirus infection. The other patient recovered completely. Physicians and parents should be informed about the adverse effects of such potent topical corticosteroids and physicians should prescribe less potent agents, especially during infancy.

  18. Neonatal abstinence syndrome due to prenatally citalopram exposure: A case report.

    Science.gov (United States)

    Erol, Sara; Ozcan, Beyza; Celik, Istemi H; Bas, Ahmet Y; Demirel, Nihal

    2017-12-01

    Neonatal abstinence syndrome (NAS) due to prenatally exposure to citalopram can develop during the first days of life even with low dose of drug exposure. Supportive management is the first choice but phenobarbital can be used in treatment of this syndrome. Breastfeeding should not be interrupted. These neonates should be followed both for NAS and neurodevelopmental outcome. In this article, we reported a newborn with NAS due to citalopram exposure with a lower dose than previously reported in the literature, during the last six months of pregnancy. Phenobarbital was used because of non-pharmacological treatment failure. Sociedad Argentina de Pediatría.

  19. Concomitant Cushing's syndrome due to adrenal adenoma in a patient with systemic lupus erythematosus.

    Science.gov (United States)

    Shimizu, Masatoshi; Kawata, Masahito; Okada, Toshio; Yuu, Housai; Kurahashi, Toshifumi; Yamanaka, Kunito; Umezu, Keiichi

    2002-11-01

    A 51-year-old woman had been administered 5 mg/day of prednisolone due to systemic lupus erythematosus (SLE). She developed hypertension, hypokalemia and a pathologic pubic fracture during two years before admission. Although iatrogenic Cushing's syndrome was initially suspected, we diagnosed her as concomitant Cushing's syndrome due to a left adrenal tumor. The elevated endogeneous glucocorticoids were evaluated from urinary excretions of 17-hydroxycorticosteroids, which was 2-fold higher than normal and equivalent to 10 mg of prednisolone. After laparoscopic left adrenalectomy, SLE was favorably controlled with 15 mg of prednisolone, the dosage of which was equivalent to the estimated amount of preoperative glucocorticoids.

  20. SHOCK SYNDROME IN A PATIENT WITH HYPOPITUITARISM DUE TO BRAIN TUMOR

    Directory of Open Access Journals (Sweden)

    Andreja Sinkovič

    2004-04-01

    Full Text Available Background. Shock syndrome is an acute tissue hypoperfusion. Early diagnosis and adequate symptomatic and causal treatment are mandatory. In spite of different etiologies (dehidration, bleeding, heart failure, sepsis, clinical signs and symptomes are similar (hypotension, tachicardia, tachipnoe, pallor, cold and wet skin, oliguria and metabolic acidosis. Rarely, the shock syndrome is the consequence of the adrenal insufficiency due to hypopituitarism caused by brain tumor where early treatment with hydrocortisone is urgent.Methods. This article presents a patient with a shock syndrome and multiorgan failure. Endocrinological testing and brain CT demonstrated an endocrinologically inactive tumor of hypophysis. The tumor was growing into adjacent hypophyseal tissue and causing hypopituitarism with secondary hypothyroidism and adrenal insufficiency and deficit of both gonadotropins and growth hormone.Conclusions. Primary or secondary adrenal insufficiency are among rare causes of shock syndrome. Whenever it is suspected, estimation of serum levels of cortisol and ACTH is necessary and immediate treatment with hydrocortisone should be instituted.

  1. How to diagnose a lipodystrophy syndrome.

    Science.gov (United States)

    Vantyghem, Marie-Christine; Balavoine, Anne-Sophie; Douillard, Claire; Defrance, Frédérique; Dieudonne, Lucile; Mouton, Fanny; Lemaire, Christine; Bertrand-Escouflaire, Nicole; Bourdelle-Hego, Marie-Françoise; Devemy, Fabrice; Evrard, Anne; Gheerbrand, Dominique; Girardot, Caroline; Gumuche, Sophie; Hober, Christine; Topolinski, Hélène; Lamblin, Blandine; Mycinski, Bénédicte; Ryndak, Amélie; Karrouz, Wassila; Duvivier, Etienne; Merlen, Emilie; Cortet, Christine; Weill, Jacques; Lacroix, Dominique; Wémeau, Jean-Louis

    2012-06-01

    The spectrum of adipose tissue diseases ranges from obesity to lipodystrophy, and is accompanied by insulin resistance syndrome, which promotes the occurrence of type 2 diabetes, dyslipidemia and cardiovascular complications. Lipodystrophy refers to a group of rare diseases characterized by the generalized or partial absence of adipose tissue, and occurs with or without hypertrophy of adipose tissue in other sites. They are classified as being familial or acquired, and generalized or partial. The genetically determined partial forms usually occur as Dunnigan syndrome, which is a type of laminopathy that can also manifest as muscle, cardiac, neuropathic or progeroid involvement. Gene mutations encoding for PPAR-gamma, Akt2, CIDEC, perilipin and the ZMPSTE 24 enzyme are much more rare. The genetically determined generalized forms are also very rare and are linked to mutations of seipin AGPAT2, FBN1, which is accompanied by Marfan syndrome, or of BANF1, which is characterized by a progeroid syndrome without insulin resistance and with early bone complications. Glycosylation disorders are sometimes involved. Some genetically determined forms have recently been found to be due to autoinflammatory syndromes linked to a proteasome anomaly (PSMB8). They result in a lipodystrophy syndrome that occurs secondarily with fever, dermatosis and panniculitis. Then there are forms that are considered to be acquired. They may be iatrogenic (protease inhibitors in HIV patients, glucocorticosteroids, insulin, graft-versus-host disease, etc.), related to an immune system disease (sequelae of dermatopolymyositis, autoimmune polyendocrine syndromes, particularly associated with type 1 diabetes, Barraquer-Simons and Lawrence syndromes), which are promoted by anomalies of the complement system. Finally, lipomatosis is currently classified as a painful form (adiposis dolorosa or Dercum's disease) or benign symmetric multiple form, also known as Launois-Bensaude syndrome or Madelung

  2. 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.

  3. 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.

  4. 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.

  5. Unusual Cushing’s Syndrome and Hypercalcitoninaemia due to a Small Cell Prostate Carcinoma

    Directory of Open Access Journals (Sweden)

    Antonio Balestrieri

    2016-01-01

    Full Text Available A 75-year-old man was hospitalized because of severe hypokalaemia due to ACTH dependent Cushing’s syndrome. Total body computed tomography (TBCT and 68 Gallium DOTATATE PET/CT localized a voluminous prostate tumour. A subsequent transurethral prostate biopsy documented a small cell carcinoma positive for ACTH and calcitonin and negative for prostatic specific antigen (PSA at immunocytochemical study; serum prostatic specific antigen (PSA was normal. Despite medical treatments, Cushing’s syndrome was not controlled and the patient’s clinical condition progressively worsened. Surgical resection was excluded; the patient underwent a cycle of chemotherapy followed by febrile neutropenia and fatal intestinal perforation. This case report describes a rare case of Cushing’s syndrome and hypercalcitoninaemia due to a small cell carcinoma of the prostate, a rare tumour with very few therapeutic options and negative prognosis.

  6. Unusual Cushing's Syndrome and Hypercalcitoninaemia due to a Small Cell Prostate Carcinoma

    Science.gov (United States)

    Magnani, Elena; Nuzzo, Fiorella

    2016-01-01

    A 75-year-old man was hospitalized because of severe hypokalaemia due to ACTH dependent Cushing's syndrome. Total body computed tomography (TBCT) and 68 Gallium DOTATATE PET/CT localized a voluminous prostate tumour. A subsequent transurethral prostate biopsy documented a small cell carcinoma positive for ACTH and calcitonin and negative for prostatic specific antigen (PSA) at immunocytochemical study; serum prostatic specific antigen (PSA) was normal. Despite medical treatments, Cushing's syndrome was not controlled and the patient's clinical condition progressively worsened. Surgical resection was excluded; the patient underwent a cycle of chemotherapy followed by febrile neutropenia and fatal intestinal perforation. This case report describes a rare case of Cushing's syndrome and hypercalcitoninaemia due to a small cell carcinoma of the prostate, a rare tumour with very few therapeutic options and negative prognosis. PMID:28044110

  7. A Case of Hypocalcaemia Due to Vitamin D Deficiency in ‘Hikikomori’ Syndrome

    Directory of Open Access Journals (Sweden)

    Takahiro Miyakoshi

    2017-09-01

    Full Text Available Objective: To describe hypocalcaemia due to vitamin D deficiency in ‘hikikomori’ syndrome. Materials and methods: A 37-year-old man with ‘hikikomori’ syndrome for a year was admitted with hypocalcaemia (serum ionic calcium 1.17 mmol/l. Serum 1,25(OH2-vitamin D3 determined by liquid chromatography–tandem mass spectrometry was depressed at 12.1 pg/ml (29.0 pmol/l and plasma intact PTH elevated at 324 ng/l. Administration of 1 μg/day 1α(OH-vitamin D3 and 1 g/day calcium lactate for 1 week normalized calcium and PTH, and raised 1,25(OH2-vitamin D3 to low normal levels. Conclusion: This is the first report of hypocalcaemia due to vitamin D deficiency in a patient with ‘hikikomori’ syndrome.

  8. Radicular dysfunction due to spinal deformities in Marfan syndrome at older age: three case reports.

    NARCIS (Netherlands)

    Voermans, N.C.; Hosman, A.J.F.; Alfen, N. van; Bartels, R.H.M.A.; Kleuver, M. de; Akker, J.W. op den; Engelen, B.G.M. van

    2010-01-01

    Marfan syndrome is a inherited connective tissue disorder due to mutations in fibrillin-1. It presents with cardiovascular, ocular, skeletal, pulmonary and dural signs and symptoms. Some of the symptoms of later onset are those associated with scoliosis and dural ectasia. This is the enlargement of

  9. Marinesco-Sjogren syndrome due to SIL1 mutations with a comment on the clinical phenotype

    NARCIS (Netherlands)

    Horvers, M.; Anttonen, A.K.; Lehesjoki, A.E.; Morava, E.; Wortmann, S.B.; Vermeer, S.; Warrenburg, B.P.C. van de; Willemsen, M.A.A.P.

    2013-01-01

    BACKGROUND: Marinesco-Sjogren syndrome is an autosomal recessive cerebellar ataxia, characterised by cerebellar ataxia, myopathy, cataracts and intellectual disability, due to mutations in the SIL1 gene. METHODS: The clinical features and two novel SIL1 mutations of four Dutch patients with

  10. 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…

  11. Enoxaparin and aspirin therapy for recurrent pregnancy loss due to anti-phospholipid syndrome (APS

    Directory of Open Access Journals (Sweden)

    Khalid Abd Aziz Mohamed

    2014-09-01

    Conclusions: Use of low dose aspirin and enoxaparin 40 mg subcutaneously daily in patients with RPL due to antiphospholipid syndrome resulted in higher live birth rates compared to low dose aspirin alone. Solid conclusions from this study are limited due to the small number of patients, non-randomization of groups and discrepancy in number between groups because the choice of the interventional drug was left to patient’s preference after counselling. A larger RCT is needed.

  12. Guillain-Barré Syndrome due to CMV Reactivation after Cardiac Transplantation

    Directory of Open Access Journals (Sweden)

    Christina Maria Steger

    2012-01-01

    Full Text Available A 40-year-old male patient suffered from end-stage heart failure due to ischemic cardiomyopathy and received orthotopiccardiac transplantation in June 2005. The instantaneous postoperative course was uneventful, but, seven months later, he suffered from paralysis in the lower extremities finally resulting in quadriplegia and was admitted to hospital. After laboratory testings the diagnosis of a Guillain-Barré syndrome due to cytomegalovirus reactivation was confirmed.

  13. A rapidly progressing Pancoast syndrome due to pulmonary mucormycosis: a case report

    Directory of Open Access Journals (Sweden)

    Hiatt Kim M

    2011-08-01

    Full Text Available Abstract Introduction Pancoast syndrome is characterized by Horner syndrome, shoulder pain radiating down the arm, compression of the brachial blood vessels, and, in long-standing cases, atrophy of the arm and hand muscles. It is most commonly associated with lung carcinoma but rarely is seen with certain infections. Case presentation We present the case of a 51-year-old Caucasian man who had acute myeloid leukemia and who developed a rapidly fulminating pneumonia along with signs and symptoms of acute brachial plexopathy and left Horner syndrome. Also, a purpuric plaque developed over his left chest wall and progressed to skin necrosis. The skin biopsy and bronchoalveolar lavage showed a Rhizopus species, leading to a diagnosis of mucormycosis. This is a rare case of pneumonia due to mucormycosis associated with acute Pancoast syndrome. Conclusions According to our review of the literature, only a few infectious agents have been reported to be associated with Pancoast syndrome. We found only three case reports of mucormycosis associated with acute Pancoast syndrome. Clinicians should consider mucormycosis in their differential diagnosis in a patient with pulmonary lesions and chest wall invasion with or without neurological symptoms, especially in the setting of neutropenia or other immunosuppressed conditions. It is important to recognize this condition early in order to target therapy and interventions.

  14. 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.

  15. Pulmonary hypertension due to obstructive sleep apnea in a child with Rubinstein-Taybi syndrome

    OpenAIRE

    Hyung Soon Choi; Jeong Jin Yu; Young-Hwue Kim; Jae-Kon Ko; In-Sook Park

    2012-01-01

    Rubinstein-Taybi syndrome (RTS) is characterized by peculiar facies, mental retardation, broad thumbs, and great toes. Approximately one-third of the affected individuals have a variety of congenital heart diseases. They can also have upper airway obstruction during sleep, due to hypotonia and the anatomy of the oropharynx and airway, which make these patients susceptible to obstructive sleep apnea (OSA). In our case, pulmonary hypertension was caused, successively, by congenital heart defect...

  16. Budd-chiari syndrome and renal arterial neurysms due to Behcet disease: a rare association.

    Science.gov (United States)

    Batur, Abdussamet; Dorum, Meltem; Yüksekkaya, Hasan Ali; Koc, Osman

    2015-01-01

    Behcet's disease is a multisystemic vasculitis of unknown etiology with a chronic relapsing course. Vasculitis in Behcet's disease with predominant vascular involvement is the only vasculitis that affects both arteries and veins of any size. Involvement of the renal artery and inferior vena cava is rare among the arteries and veins, respectively. When disease affect the veins, it is in the form of thrombosis. Arterial complications include aneurysms, stenosis and occlusions. Both rupture of arterial aneurysm and occlusion of suprahepatic veins, causing Budd-Chiari syndrome, are associated with a high mortality rate. Vascular involvement is more common in male patients than in female patients. Men and patients with a younger age of onset present with a more severe prognosis. In this case report, we describe a very rare cause of intrarenal arterial aneurysm's rupture with previous Budd-Chiari syndrome due to Behcet's disease and successful angiographic embolization of actively bleeding aneurysm.

  17. Dermatomyositis presenting as a paraneoplastic syndrome due to underlying breast cancer.

    Science.gov (United States)

    Sandhu, Nicole P; Zakaria, Shaheen; Degnim, Amy C; Boughey, Judy C

    2011-02-02

    Breast cancer most often presents as a palpable mass or with an abnormal mammogram. Much less commonly, breast cancer may present as a paraneoplastic syndrome. Dermatomyositis (DM) is a rare disease most often considered a complement-mediated idiopathic inflammatory myopathy manifested by classic skin findings and proximal muscle weakness. However, DM may also be due to a paraneoplastic syndrome associated with an underlying malignancy. The authors present a case report of a woman with presumed contact dermatitis who was diagnosed with breast cancer in the setting of progressive fatigue and muscle weakness. DM was subsequently diagnosed. Treatment of DM simultaneous with treatment of the breast cancer led to regression of DM. The diagnosis of DM in an adult should raise suspicion of an underlying malignancy. Breast cancer is a common disease that may rarely present with uncommon features that may divert attention from the underlying malignancy.

  18. Unusual Case of an Arterial Thoracic Outlet Syndrome due to Srb Anomaly.

    Science.gov (United States)

    Rustum, Saad; Rodt, Thomas; Teebken, Omke; Schrimpf, Claudia; Aper, Thomas; Wilhelmi, Mathias

    2013-12-01

    A thoracic outlet syndrome (TOS) is caused by arterial or nervous obstruction because of skeletal or muscular anomalies and hypertrophies. Congenital rib anomalies occur with low incidences (0.15-0.31%), predominantly affect the right side and are normally diagnosed at a young age or remain asymptomatic throughout life. Here, we report on the unusual case of a 71-year-old female patient with subacute ischemia of the left arm due to a TOS resulting from Srb anomaly, a very rare congenital rib anomaly.

  19. Complex Regional Pain Syndrom Due to Cat Bite: A Case Report

    Directory of Open Access Journals (Sweden)

    Tuncay Cakir

    2014-04-01

    Full Text Available Complex regional pain syndrome (CPRS, is a painful and disabling disorder that can effect one or more extremities, characterized by a combination of vasomotor, sudomoto rand dystrophic alterations and may cause restriction in movements. The pain of this condition out of proportion to the severity of the initial injury. There are many aetiologic factors such as soft tissue injury, surgery, immobilization or myocardial ischemia. The pathophysiology of CPRS is not clear but peripheral and central sensitization resulting in neurogenic inflammation has been held responsible. This case report discribes the clinical condition of CPRS due to cat bite, and is presented to emphasize rare etiologic factors that may cause CPRS.

  20. Hypokalemic rhabdomyolysis due to watery diarrhea, hypokalemia, achlorhydria (WDHA) syndrome caused by vipoma.

    Science.gov (United States)

    Kibria, Rizwan; Ahmed, Sameer; Ali, Syed A; Barde, Christopher J

    2009-07-01

    Mild hypokalemia is common and encountered in a multitude of diseases, but severe hypokalemia leading to rhabdomyolysis is relatively rare. The watery diarrhea, hypokalemia, achlorhydria (WDHA) syndrome caused by vasoactive intestinal polypeptide (VIP)-producing tumors, is an extremely rare cause of hypokalemic rhabdomyolysis and the literature is limited to one case report. We report a second case of an adult who presented with rhabdomyolysis due to severe hypokalemia. Further evaluation revealed that he had a VIP-producing pancreatic neuroendocrine tumor (NET), which was the cause of his hypokalemic rhabdomyolysis. Although rare in occurrence, a high index of suspicion is of paramount importance for establishing the correct diagnosis and treatment.

  1. 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.

  2. PERIOPERATIVE ANAESTHESIA MANAGEMENT OF A PATIENT WITH CUSHING’S SYNDROME DUE TO ADRENOCORTICAL CARCINOMA: A CASE REPORT

    OpenAIRE

    Mukund; Poornima; Sneha; Kirankumar

    2014-01-01

    Adrenocortical carcinoma, a rare malignancy is a rare cause of Cushing’s syndrome. Open adrenalectomy, a preferred modality for its treatment has inherent problems of difficult surgical access, bleeding, massive blood transfusion, coagulation defect, pulmonary embolism, large fluid shifts, cardiovascular collapse and postoperative complications. Cushing syndrome also poses challenge to anaesthesiologist in perioperative period, due to presence of hyper-cortisolism, volume ...

  3. 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...

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

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    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.

  5. Extrahepatic portal venous obstruction due to a giant hepatic hemangioma associated with Kasabach-Merritt syndrome.

    Science.gov (United States)

    Tani, Aya; Yoshida, Hiroshi; Mamada, Yasuhiro; Taniai, Nobuhiko; Kawano, Yoichi; Uchida, Eiji

    2010-10-01

    We describe a patient with extrahepatic portal venous obstruction due to a giant hepatic hemangioma associated with Kasabach-Merritt syndrome. A 67-year-old woman presented with upper abdominal distension and appetite loss. The medical history was not relevant to the current disorder. Initial laboratory tests revealed the following: serum platelet count, 9.9 × 10⁴/µL; serum fibrinogen degradation products, 12 µg/mL; prothrombin time, 1.26; and serum fibrinogen, 111 mg/dL. Computed tomography demonstrated homogenous low-density areas, 15 cm in diameter, in the left lobe of the liver. Common hepatic arteriography revealed a hypervascular tumor with pooling of contrast medium in the delayed phase. The portal venous phase of supramesenteric arteriography revealed obstruction and cavernous transformation of the portal vein. We diagnosed extrahepatic portal venous obstruction due to a giant hepatic hemangioma associated with Kasabach-Merritt syndrome. Laparotomy was performed, and the liver was found to be markedly enlarged. After mobilization of the left lobe, left hepatectomy was performed with intermittent clamping. After resection, Doppler ultrasonography revealed recovery of the portal venous flow. The cavernous transformation shrank. Pathologic examination of the surgical specimen confirmed the presence of a giant benign hepatic cavernous hemangioma. The patient was discharged 16 days after operation. Laboratory data and complications improved after 2 months.

  6. 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 laser therapy in twin-twin transfusion due to donor hydrops doesn't necessarily predict a poor perinatal outcome.

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

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    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.

  8. Embryonic senescence and laminopathies in a progeroid zebrafish model.

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    Koshimizu, Eriko; Imamura, Shintaro; Qi, Jie; Toure, Jamal; Valdez, Delgado M; Carr, Christopher E; Hanai, Jun-ichi; Kishi, Shuji

    2011-03-30

    Mutations that disrupt the conversion of prelamin A to mature lamin A cause the rare genetic disorder Hutchinson-Gilford progeria syndrome and a group of laminopathies. Our understanding of how A-type lamins function in vivo during early vertebrate development through aging remains limited, and would benefit from a suitable experimental model. The zebrafish has proven to be a tractable model organism for studying both development and aging at the molecular genetic level. Zebrafish show an array of senescence symptoms resembling those in humans, which can be targeted to specific aging pathways conserved in vertebrates. However, no zebrafish models bearing human premature senescence currently exist. We describe the induction of embryonic senescence and laminopathies in zebrafish harboring disturbed expressions of the lamin A gene (LMNA). Impairments in these fish arise in the skin, muscle and adipose tissue, and sometimes in the cartilage. Reduced function of lamin A/C by translational blocking of the LMNA gene induced apoptosis, cell-cycle arrest, and craniofacial abnormalities/cartilage defects. By contrast, induced cryptic splicing of LMNA, which generates the deletion of 8 amino acid residues lamin A (zlamin A-Δ8), showed embryonic senescence and S-phase accumulation/arrest. Interestingly, the abnormal muscle and lipodystrophic phenotypes were common in both cases. Hence, both decrease-of-function of lamin A/C and gain-of-function of aberrant lamin A protein induced laminopathies that are associated with mesenchymal cell lineages during zebrafish early development. Visualization of individual cells expressing zebrafish progerin (zProgerin/zlamin A-Δ37) fused to green fluorescent protein further revealed misshapen nuclear membrane. A farnesyltransferase inhibitor reduced these nuclear abnormalities and significantly prevented embryonic senescence and muscle fiber damage induced by zProgerin. Importantly, the adult Progerin fish survived and remained fertile with

  9. Embryonic senescence and laminopathies in a progeroid zebrafish model.

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    Eriko Koshimizu

    Full Text Available BACKGROUND: Mutations that disrupt the conversion of prelamin A to mature lamin A cause the rare genetic disorder Hutchinson-Gilford progeria syndrome and a group of laminopathies. Our understanding of how A-type lamins function in vivo during early vertebrate development through aging remains limited, and would benefit from a suitable experimental model. The zebrafish has proven to be a tractable model organism for studying both development and aging at the molecular genetic level. Zebrafish show an array of senescence symptoms resembling those in humans, which can be targeted to specific aging pathways conserved in vertebrates. However, no zebrafish models bearing human premature senescence currently exist. PRINCIPAL FINDINGS: We describe the induction of embryonic senescence and laminopathies in zebrafish harboring disturbed expressions of the lamin A gene (LMNA. Impairments in these fish arise in the skin, muscle and adipose tissue, and sometimes in the cartilage. Reduced function of lamin A/C by translational blocking of the LMNA gene induced apoptosis, cell-cycle arrest, and craniofacial abnormalities/cartilage defects. By contrast, induced cryptic splicing of LMNA, which generates the deletion of 8 amino acid residues lamin A (zlamin A-Δ8, showed embryonic senescence and S-phase accumulation/arrest. Interestingly, the abnormal muscle and lipodystrophic phenotypes were common in both cases. Hence, both decrease-of-function of lamin A/C and gain-of-function of aberrant lamin A protein induced laminopathies that are associated with mesenchymal cell lineages during zebrafish early development. Visualization of individual cells expressing zebrafish progerin (zProgerin/zlamin A-Δ37 fused to green fluorescent protein further revealed misshapen nuclear membrane. A farnesyltransferase inhibitor reduced these nuclear abnormalities and significantly prevented embryonic senescence and muscle fiber damage induced by zProgerin. Importantly, the adult

  10. Termination of pregnancy due to Thalassemia major, Hemophilia, and Down's Syndrome: the views of Iranian physicians

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    Zareifar Soheila

    2008-12-01

    Full Text Available Abstract Background Genetic disorders due to kindred marriages are common medical conditions in Iran; however, the legal aspects of abortion remain controversial. This study was undertaken to determine physicians' opinions regarding the termination of pregnancy for three genetic diseases: thalassemia major, hemophilia, and Down's syndrome. Methods A questionnaire was administered to selected physicians by stratified random sampling to determine the following: age, gender, knowledge about prenatal diagnosis of diseases in high risk pregnancies, agreement with abortion, recommended gestational age for abortion, and, if opposed to abortion, the reason. Results Of 323 physicians, who participated in the study, 91.3(295, 40.6(131, and 78.6%(254 were in agreement and 8.7(28, 59.4(192, and 21.4%(69 were opposed to abortion for thalassemia major, hemophilia, and Down's syndrome, respectively. Among 289 physicians opposed to abortion in respect of each of all three conditions, the following reasons were cited: religion, 18; emotional, 10; quality of care, 23; hope to find a new treatment option in the future, 103; miscellaneous reasons, 6; and a combination of these reasons, 129. Among 680 physicians in agreement with abortion in relation to all of the diseases, 4.6%(31 were agreed with abortion in less than 12 weeks gestation, 79.2%(538 in less than 16 weeks gestation, 5.6%(38 in less than 20 weeks gestation, 2.2%(15 in less than 24 weeks gestation, and 8.4%(58 were agreed with beyond the 24 weeks of gestational age. Conclusion The majority of physicians were in agreement with abortion for thalassemia major and Down's syndrome because of the overall prognosis, but opposed to abortion for hemophilia.

  11. Hypercortisolism due to a Pituitary Adenoma Associated with Beckwith-Wiedemann Syndrome.

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    Brioude, Frederic; Nicolas, Carole; Marey, Isabelle; Gaillard, Stephan; Bernier, Michèle; Das Neves, Cristina; Le Bouc, Yves; Touraine, Philippe; Netchine, Irene

    2016-01-01

    Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome with an increased risk of cancer. Most BWS patients show a molecular defect in the 11p15 region that contains imprinted genes. BWS has been associated with malignant neoplasms during infancy. Descriptions of benign tumors, especially in adult patients, are rarer. We report the case of a BWS patient with pituitary adenoma caused by loss of methylation (LOM) at ICR2 (locus CDKN1C/KCNQ1OT1). The patient was referred to an endocrinology unit for suspicion of Cushing's disease due to a history of macroglossia and hemihyperplasia. Biological tests led to the diagnosis of ACTH-dependent hypercortisolism. MRI showed a microadenoma of the pituitary gland, confirming the diagnosis of Cushing's disease. DNA methylation analysis revealed LOM at ICR2 that was in a mosaic state in the patient's leukocytes, but was present in nearly all cells of the pituitary adenoma. The epigenetic defect was associated with a somatic USP8 mutation in the adenoma. Pituitary adenoma rarely occurs in patients with BWS. However, BWS should be considered in cases of pituitary adenoma with minor and/or major signs of BWS. The association between ICR2 LOM and USP8 mutation in the adenoma is questionable. © 2016 S. Karger AG, Basel.

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

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    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.

  13. Iatrogenic Cushing's syndrome and osteoporosis due to an interaction between fluticasone and ritonavir.

    Science.gov (United States)

    Azevedo, Luísa; Pêgo, Hugo; Souto Moura, Teresa; Germano, Isabel

    2015-10-29

    The advent of highly active antiretroviral therapy for HIV infection dramatically changed the landscape of the disease. Ritonavir, a protease inhibitor (PI) frequently used in low doses to 'boost' the concentrations of other PIs, inhibits the cytochrome P450 3A4 isoenzyme, a common metabolic pathway to multiple drugs, so the potential for drug interactions is not negligible. A 39-year-old man with HIV-1 infection, treated with a ritonavir-boosted PI, was started on fluticasone/salmeterol inhaler and intranasal fluticasone, in 2009, in the setting of asthma and allergic rhinitis. In 2013, he presented with 1-year evolution of symptoms suggesting Cushing's syndrome, and was experiencing recurrent falls. A spine CT showed a vertical L3 fracture and thoracolumbar erosions; a bone density scan revealed severe osteoporosis. Hormonal assays were compatible with hypothalamic-pituitary-adrenal axis suppression, and iatrogenic Cushing's syndrome due to ritonavir-fluticasone interaction was considered. Fluticasone was suspended and oral corticosteroid replacement initiated, with a favourable outcome. 2015 BMJ Publishing Group Ltd.

  14. High cutoff membrane to reduce systemic inflammation due to differentiation syndrome: a case report.

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    Villa, Gianluca; Zaragoza, Jose J; Sharma, Aashish; Chelazzi, Cosimo; Ronco, Claudio; De Gaudio, A Raffaele

    2014-01-01

    Differentiation syndrome is a life-threatening complication of therapy that is carried out with agents used for acute promyelocytic leukemia. Its physiopathology comprehends the production of inflammatory mediators by differentiating granulocytes, endothelial and alveolar cells due to stimulation by all-trans retinoic acid and leading to sustained systemic inflammation. Treatment with high cut-off continuous veno-venous hemodialysis (HCO-CVVHD) was performed to reduce the circulating mediators of systemic inflammation. After 52 h of treatment, an important reduction was observed in inflammatory mediators (IL-1β: from 10 to 2 pg/ml; IL-8: from 57 to 40 pg/ml; TNF-α: from 200 to 105 pg/ml; IL-6: from 263 to 91 pg/ml), as well as in anti-inflammatory mediators (IL-10: from 349 to 216 pg/ml). HCO-CVVHD should be explored as a part of treatment in systemic inflammation states other than sepsis (e.g., differentiation syndrome). Furthermore, its immunomodulatory effects could be particularly useful in immunocompromised patient treated with corticosteroids. © 2014 S. Karger AG, Basel.

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

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    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.

  16. Fatal Cocaine Overdose due to Body Packers Syndrome a Case Report

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    Erdal Özer

    2005-08-01

    Full Text Available “Body packers” or “mules” are individuals who swallow or insert into a body cavity, containers or packages filled with illegal drugs for the purpose of smuggling past customs. A case of acute intoxication of cocaine is reported, of which two packages found in the stomach of a 24-year old black male at during autopsy and external examination was unremarkable. The internal examinations, showed edema and generalized congestion of the organs. This case report is about the death of a body packer due to cocaine intoxication following the rupture of a packet of cocaine. This case is represented in order to draw attention to body packing for suspected death cases. Key words: Cocaine, body packers syndrome, suspected death, autopsy, forensic medicine.

  17. A Pregnant Woman Who Underwent Laparoscopic Adrenalectomy due to Cushing’s Syndrome

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    Halit Diri

    2014-01-01

    Full Text Available Cushing’s syndrome (CS may lead to severe maternal and fetal morbidities and even mortalities in pregnancy. However, pregnancy complicates the diagnosis and treatment of CS. This study describes a 26-year-old pregnant woman admitted with hypertension-induced headache. Hormonal analyses performed due to her cushingoid phenotype revealed a diagnosis of adrenocorticotropic hormone- (ACTH- independent CS. MRI showed a 3.5 cm adenoma in her right adrenal gland. After preoperative metyrapone therapy, she underwent a successful unilateral laparoscopic adrenalectomy at 14-week gestation. Although she had a temporary postoperative adrenal insufficiency, hormonal analyses showed that she has been in remission since delivery. Findings in this patient, as well as those in previous patients, indicate that pregnancy is not an absolute contraindication for laparoscopic adrenalectomy. Rather, such surgery should be considered a safe and efficient treatment method for pregnant women with cortisol-secreting adrenal adenomas.

  18. Corticosteroid-induced asthma: a manifestation of limited hyperinfection syndrome due to Strongyloides stercoralis.

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    Sen, P; Gil, C; Estrellas, B; Middleton, J R

    1995-09-01

    Inadequate therapeutic response to parenteral corticosteroids in patients with acute bronchial asthma is infrequent. We report four patients whose bronchial asthma symptoms worsened after treatment with parenteral corticosteroids. All had larvae of Strongyloides stercoralis in the stool. The new attack or the exacerbation of asthma appeared to be precipitated by systemic corticosteroid administration. The paradoxic therapeutic response of asthma to glucocorticoides was the major pulmonary manifestation of Strongyloides superinfection; there was no evidence of other organ involvement. Individuals with new onset of bronchial asthma or worsening of asthmatic episodes concurrent with the use of systemic corticosteroids should have thorough investigation for possible superinfection due to Strongyloides stercoralis. This is particularly important for patients who have resided in areas where intestinal helminthic infections are endemic. Discontinuance of steroid therapy or reduction in dosage of parenteral steroids appears necessary. Treatment with thiabendazole appears to be effective in patients with limited hyperinfection syndrome.

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

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    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.

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

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

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    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.

  2. An Atypical Rett Syndrome Phenotype Due to a Novel Missense Mutation in CACNA1A.

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    Epperson, Madison V; Haws, Michael E; Standridge, Shannon M; Gilbert, Donald L

    2018-03-01

    Some typical and atypical Rett syndrome patients lack known genetic mutations. Mutations in the P/Q type calcium channel CACNA1A have been implicated in epileptic encephalopathy, familial hemiplegic migraine, episodic ataxia 2, and spinocerebellar ataxia 6, but not Rett syndrome. Patient Description: The authors describe a female patient with developmental regression and a de novo, likely pathogenic mutation in CACNA1A who meets 3 of 4 main criteria (stereotypic hand movements, loss of purposeful hand movements, gait disturbance), and 6 of 11 supportive criteria (impaired sleep, abnormal tone, vasomotor disturbance, scoliosis, growth retardation, and screaming spells) for atypical Rett syndrome. Furthermore, she resembles the early seizure variant of Rett syndrome. Previously, 3 children with similar CACNA1A mutations have been reported, but a Rett syndrome phenotype has not been described. CACNA1A mutations should be considered in children presenting with an atypical Rett syndrome phenotype, specifically, the early seizure variant.

  3. [Good's syndrome and congenital toxoplasmosis due to maternal reactivation during pregnancy].

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    Tahiri, J; Fouyssac, F; Morel, O; Maatouk, A

    2017-05-01

    Good syndrome is a rare condition in which thymoma is associated with hypogammaglobulinemia. It is characterized by an increased susceptibility to infections. We report a woman with Good's syndrome diagnosed after severe congenital toxoplasmosis in her daughter, even though she was immunized against this infection during pregnancy. This presentation is very unusual by its early diagnosis and to our knowledge is the first report of parasitic infection in this syndrome. Copyright © 2016. Published by Elsevier SAS.

  4. Cushing’s Syndrome due to Ectopic ACTH from Bronchial Carcinoid: A Case Report and Review

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    Manohara Kenchaiah

    2012-01-01

    Full Text Available Despite advances in analytic and imaging techniques, the syndrome of ectopic adrenocorticotrophic hormone (ACTH secretion from a tumour resulting in Cushing’s syndrome continues to pose difficult diagnostic and therapeutic challenges. Dynamic testing may be equivocal and radiology indeterminate. We report a patient presenting with Cushing’s syndrome associated with ectopic ACTH secretion from a bronchial carcinoid whose management presented diagnostic and therapeutic challenges.

  5. Hyperimmunoglobulin syndrome due to CD40 deficiency: Possibly the first case from India

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    A Mishra

    2015-01-01

    Full Text Available Hyperimmunoglobulin M (HIGM type 3 due to CD40 deficiency is a very rare syndrome. Only 16 cases have been reported thus far. The clinical presentation is very variable. We present the first case of this rare disorder from India. The case is of a two-and-a-half-year-old female, with a history of repeated episodes of skin infections and diarrhea since birth. Laboratory evaluation revealed elevated absolute lymphocyte count and an absolute neutrophil count (ANC of 1026/mm 3 . The lymphocyte subset analysis showed normal absolute counts of Natural Killer (NK cells and elevated absolute counts of T-cells (CD4 and CD8 and B-cells. The serum immunoglobulin estimation showed low levels of IgG, IgA, IgE and an elevated level of IgM. The CD154 analysis was normal and expression of CD40 was absent on the B-cells. Molecular analysis showed a novel mutation, with deletion of 3bp (AAG [p.Glu107GlyfsX84] in the homozygous state, in the CD40 gene. Thus the patient was diagnosed as HIGM type 3. The parents were screened and counseled regarding prenatal diagnosis at the time of next pregnancy.

  6. Congenital hypothyroidism due to ectopic sublingual thyroid gland in Prader-Willi Syndrome: a case report.

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    Bocchini, Sarah; Fintini, Danilo; Grugni, Graziano; Boiani, Arianna; Convertino, Alessio; Crinò, Antonino

    2017-09-22

    Thyroid gland disorders are variably associated with Prader-Willi syndrome (PWS). Many of the clinical features in newborns with PWS are similar to those found in congenital hypothyroidism (CH). We report a case of a girl with CH and PWS. At the age of 9 months CH caused by an ectopic sublingual thyroid was diagnosed, and hormone replacement therapy was started. In spite of this treatment a decrease in growth velocity, weight excess and delayed development were observed. At the age of 9 years PWS was suspected on the basis of phenotype and genetic tests confirmed a maternal uniparental disomy of chromosome 15. This is the second reported case of hypothyroidism due to an ectopic sublingual thyroid gland in PWS suggesting that, although rare, an association between CH and PWS may exist. In our case diagnosis of PWS was delayed because mental retardation, hypotonia, obesity and short stature were initially attributed to hypothyroidism. In this context PWS should be considered in obese children with CH who do not improve adequately with l-thyroxine therapy. Also, thyroid function in all PWS children should be assessed regularly in order to avoid delayed diagnosis of hypothyroidism.

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

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

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    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.

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

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    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.

  10. 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.

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

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    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.

  12. Iatrogenic Cushing's Syndrome Due to Intranasal Usage of Ophthalmic Dexamethasone: A Case Report.

    Science.gov (United States)

    Orton, Sarah; Censani, Marisa

    2016-05-01

    Iatrogenic Cushing's syndrome (ICS) is caused by exogenous corticosteroid administration with suppression of the hypothalamic-pituitary-adrenal axis. It has been commonly described with oral and topical steroid use, but scarce reports have documented intranasal steroid usage as the etiology in infancy. In this article, we describe a case of a 4-month-old infant who developed ICS after 6 weeks of intranasal dexamethasone ophthalmic solution administration for nasal obstruction. To our knowledge, this is the youngest patient reported with ICS due to intranasal use of a prescribed dose of an ophthalmic steroid. His hypothalamic-pituitary-adrenal axis recovered fully 4.5 months after steroid discontinuation. Because of the small body surface area and supine position during administration, infants are particularly susceptible to ICS. Given that intranasal steroids are commonly prescribed to infants and children for a variety of diagnoses, this case highlights the risks inherent in the use of intranasal steroid drops, particularly in young infants, for both adrenal suppression and linear growth deceleration, even with short-term use. Close monitoring of these patients' height and weight should occur while on steroid treatment, with every effort made to decrease or discontinue steroid use when possible. Copyright © 2016 by the American Academy of Pediatrics.

  13. 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.

  14. Effectiveness of the ICare rebound tonometer in patients with overestimated intraocular pressure due to tight orbit syndrome.

    Science.gov (United States)

    Lee, You Kyung; Lee, Y K; Lee, Ji Young; Lee, J Y; Moon, Jung Il; Moon, J I; Park, Myoung Hee; Park, M H

    2014-11-01

    To evaluate the effectiveness of the ICare rebound tonometer in patients with overestimated intraocular pressure (IOP) due to tight orbit syndrome and to identify factors affecting the development of tight orbit syndrome in glaucoma patients. We investigated 84 eyes in 84 glaucoma patients, of which 14 eyes were classified in the tight orbit syndrome group and 70 eyes in the control group. IOP was measured using the ICare tonometer and the Goldmann applanation tonometer (GAT). The demographic data, medical histories, ocular histories, and detailed ocular drug histories of the two groups were compared to identify factors contributing to the development of tight orbit syndrome. In the tight orbit syndrome group, the ICare tonometer significantly underestimated the IOP by approximately 8.6 mmHg compared with the GAT. In the control group, the IOP readings of the GAT and the ICare tonometer did not differ significantly. Bland-Altman analysis showed that the mean difference between measurements taken using the GAT and those taken using the ICare tonometer was 2.5 ± 6.3 mmHg. The difference between the GAT and ICare tonometer measurements was greater in the tight orbit syndrome group (8.6 ± 5.3 mmHg) than in the control group (1.3 ± 2.7 mmHg). Multivariate regression analysis revealed that only the use of prostaglandin analogs (PGAs) was associated with the development of tight orbit syndrome. The ICare tonometer is a suitable alternative device for use in patients with tight orbit syndrome in whom the IOP may be overestimated with the GAT. The prolonged use of PGAs is significantly associated with the development of tight orbit syndrome.

  15. Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency

    NARCIS (Netherlands)

    Nouioua, S.; Cheillan, D.; Zaouidi, S.; Salomons, G.S.; Amedjout, N.; Kessaci, F.; Boulandour, N.; Hamadouche, T.; Tazir, M.

    2013-01-01

    We report two sisters, aged 11 and 6. years, with AGAT deficiency syndrome (OMIM 612718) which is the least common creatine deficiency syndrome. They were born full-term to consanguineous parents and had moderate developmental delay. Examination showed an important language delay, a progressive

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

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    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.

  17. 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

  18. 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.

  19. Nonthyroidal illness syndrome in patients with subarachnoid hemorrhage due to intracranial aneurysm

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    Casulari Luiz Augusto

    2004-01-01

    Full Text Available We have previously reported that subarachnoid hemorrhage due to ruptured intracranial aneurysm (SH is associated with changes in the hormonal profile in the first 24 hours after the event. We proposed that the hormonal changes observed are due to the intense stress to which the patients are exposed. However, the thyroidal hormonal profile is indicative of the presence of a nonthyroidal illness syndrome (NTIS. In this paper, we examined whether the change in the thyroid hormone profile is compatible with a NTIS. Two groups of patients were included in the study: A 30 patients with SH (21 females and 9 males; 41.7±11.4 years and B a control group including 25 patients with benign diseases of the spine (BDS (lumbar disc hernia or stable spinal trauma (8 females and 17 males; 41.3±14.2 years. In a subgroup of eight patients of each group serum triiodothyronine (T3 and reverse T3 levels were measured. The blood samples were obtained between 8:00 and 9:00 AM. The following results were obtained: The SH group had smaller serum T3 and free T4 levels than the BDS group (p<0.05: T3 (ng/mL: SH = 58.7±1.1 and BDS = 74.5±13.9; free T4 (ng/dL: SH = 0.9±0.2 and BDS = 1.1±0.3. There was no significant difference in the serum levels of total thyroxine (T4 and thyroid-stimulating hormone (TSH between the two groups: T4 (µg/dL: SH = 6.9±1.1 and BDS = 7.4±2.1; TSH (µUI/mL: SH = 1.5±0.8 and BDS = 1.8±1,0. In the sample of eight patients of each group we had the following results: T3 (ng/mL: SH = 66.8±3.8 and BDS = 77.2±1.1 (p <0.05; reverse T3 (ng/dL: SH = 32.8±8 and BDS = 24.7±2.2 (NS; T3/ reverse T3 ratio: SH = 2.6±0.3 and BDS = 3.3±0.4 (NS. Thyreoglobulin and microsomal antibodies were not detectable, except in one patient in the SH group. In conclusion, the SH patients present serum levels of T3 and free T4 significantly lower than that of BDS patients; the thyroidal hormone profile suggests that SH patients have developed the nonthyroidal

  20. EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features.

    Science.gov (United States)

    Ganetzky, Rebecca; Finn, Erin; Bagchi, Atrish; Zollo, Ornella; Conlin, Laura; Deardorff, Matthew; Harr, Margaret; Simpson, Michael A; McGrath, John A; Zackai, Elaine; Lemmon, Mark A; Sondheimer, Neal

    2015-09-01

    The epidermal growth factor receptor (EGFR) is part of a large family of receptors required for communicating extracellular signals through internal tyrosine kinases. Epidermal growth factor (EGF) signaling is required for tissue development, whereas constitutive activation of this signaling pathway is associated with oncogenic transformation. We identified homozygous c.1283G>A (p.Gly428Asp) mutations in the extracellular domain of EGFR in two siblings. The children were born prematurely, had abnormalities in skin and hair, suffered multisystem organ failure, and died in the neonatal period from intestinal perforation. EGF failed to induce mutated receptor phosphorylation in patient-derived fibroblasts and activation of downstream targets was suppressed. The heterologously expressed extracellular domain was impaired in stability and the binding of EGF. Cells from the affected patient undergo early senescence with accelerated expression of β-galactosidase and shortened telomeres at all passages when compared to controls. A comparison of homozygous inherited regions from a separate report of a patient from the same ethnic background and EGFR genotype confirms the pathogenicity of EGFR mutations in congenital disease.

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

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    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.

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

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    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.

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

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    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.

  4. 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

  5. Horner Syndrome due to a solitary osteochondroma of C7: a case report and review of the literature.

    Science.gov (United States)

    Zhao, Chang-Qing; Jiang, Sheng-Dan; Jiang, Lei-Sheng; Dai, Li-Yang

    2007-07-15

    Case report and review of the literature. To report a 23-year-old woman with osteochondroma of the lower cervical spine who presented with Horner syndrome and to review the relevant literature. Osteochondroma is the most common benign lesion of bone but rarely affects the spine. Clinical history, routine radiographs, and computed tomography study of the patient were described. A review of the relevant literature was also done. The patient demonstrated a complete disappearance of clinical symptoms on the follow-up examination 60 days after surgery. No patients with Horner syndrome due to a solitary cervical osteochondroma have been previously reported in English-language medical literature. Vertebral involvement of osteochondroma is rare, especially with neurologic compromise. A young patient is presented with a symptomatic solitary osteochondroma of the seventh cervical vertebra who had Horner syndrome. This case report supports surgical intervention of symptomatic osteochondroma of the cervical spine.

  6. 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.

  7. 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.

  8. [HELLP syndrome requiring therapeutic plasma exchange due to progression to multiple organ dysfunction syndrome with predominant encephalopathy, respiratory and renal insufficiency].

    Science.gov (United States)

    Trávniková, M; Gumulec, J; Kořístek, Z; Navrátil, M; Janáč, M; Pelková, J; Šuráň, P; Doležálková, E; Šimetka, O

    2017-01-01

    Case report of woman with twin pregnancy complicated by HELLP syndrome which progressed to multiple organ dysfunction syndrome with predominant encephalopathy, renal and respiratory insufficiency with the need to perform repeated therapeutic plasma exchange. Case report. Department of gynecology and obstetrics, University Hospital in Ostrava; Departmet of hematooncology, University Hospital in Ostrava; Department of gynecology and obstetrics, Vsetín hospital; Department of hematology and transfusion, Vsetín Hospital. Case of 35-year-old III gravida/II para with previously normal ongoing twin bichorionic biamniotic pregnancy in week 35+0, which was admitted to secondary care delivery room for three days lasting "flu like" symptoms and the right upper quadrant pain. She was icteric, exhausted, but normotensive (120/75 mm Hg). Acute caesarean section was performed for suspected fetal hypoxia and HELLP syndrome. The laboratory exams confirmed coagulopathy and HELLP syndrome second class during the operation. Blood loss was 800 ml. Despite standard treatment of HELLP syndrome, the condition had developed to renal insufficiency, bilateral fluidothorax, alveolar pulmonary edema, encephalopathy and hypertension. In laboratory results dominates markers of coagulopathy, thrombocytopenia and microangiopathic hemolytic anemia with presence of schistocytes. Due to multiple organ dysfunction syndrome with hemolysis of unclear origin, patient was transferred to referral hospital on sixth postoperative day. Therapeutic plasma exchange (TPEX) was promptly begun. Improvement of laboratory parameters occurred already after the first TPEX and after two days there was a significant improvement of neurological status. Nine TPEX procedures were performed. The treatment was terminated after platelet count reached 100×109/l. She was discharged from hospital 21 days after delivery. After exclusion of other clinical entities, the case was closed as postpartum thrombotic microangiopathic

  9. [Severe type A insulin resistance syndrome due to a mutation in the insulin receptor gene].

    Science.gov (United States)

    Ros, P; Colino-Alcol, E; Grasso, V; Barbetti, F; Argente, J

    2015-01-01

    Insulin resistance syndromes without lipodystrophy are an infrequent and heterogeneous group of disorders with variable clinical phenotypes, associated with hyperglycemia and hyperinsulinemia. The three conditions related to mutations in the insulin receptor gene are leprechaunism or Donohue syndrome, Rabson-Mendenhall syndrome, and Type A syndrome. A case is presented on a patient diagnosed with type A insulin resistance, defined by the triad of extreme insulin resistance, acanthosis nigricans, and hyperandrogenism, carrying a heterozygous mutation in exon 19 of the insulin receptor gene coding for its tyrosine kinase domain that is crucial for the catalytic activity of the receptor. The molecular basis of the syndrome is reviewed, focusing on the structure-function relationships of the insulin receptor, knowing that the criteria for survival are linked to residual insulin receptor function. It is also pointed out that, although type A insulin resistance appears to represent a somewhat less severe condition, these patients have a high morbidity and their treatment is still unsatisfactory. Copyright © 2014 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  10. 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

    kan muligvis skyldes et lavere niveau af testosteron i fosterlivet. Mænd med Klinefelter syndrom havde også større livvidde og mere fedt i maveregionen og en generelt højere fedtprocent. Der var blandt mænd med Klinefelter syndrom endvidere en vis sammenhæng mellem længden på arme og ben og længden på...... det gen, som er ansvarlig for at kode for den receptor, som testosteron (i kroppen) skal binde sig til for at udøve sin funktion. Mænd med Klinefelter syndrom havde desuden væsentligt mindre testikler. Samlet set kunne vi således vise, at kropssammensætningen er ændret blandt mænd med Klinefelter...

  11. Cortical correlates of affective syndrome in dementia due to Alzheimer’s disease

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    Thaís T. Hayata

    2015-07-01

    Full Text Available Neuropsychiatric symptoms in Alzheimer’s disease (AD are prevalent, however their relationship with patterns of cortical atrophy is not fully known. Objectives To compare cortical atrophy’s patterns between AD patients and healthy controls; to verify correlations between neuropsychiatric syndromes and cortical atrophy. Method 33 AD patients were examined by Neuropsychiatric Inventory (NPI. Patients and 29 controls underwent a 3T MRI scanning. We considered four NPI syndromes: affective, apathy, hyperactivity and psychosis. Correlations between structural imaging and neuropsychiatric scores were performed by Freesurfer. Results were significant with a p-value < 0.05, corrected for multiple comparisons. Results Patients exhibited atrophy in entorhinal cortices, left inferior and middle temporal gyri, and precuneus bilaterally. There was correlation between affective syndrome and cortical thickness in right frontal structures, insula and temporal pole. Conclusion Cortical thickness measures revealed atrophy in mild AD. Depression and anxiety symptoms were associated with atrophy of right frontal, temporal and insular cortices.

  12. Reversible hemianopsia in postpartum due to posterior reversible encephalopathy syndrome in pregnant with late eclampsia.

    Science.gov (United States)

    Hentschke, Marta Ribeiro; Sussela, Alex Oliboni; Marrone, Luiz Carlos Porcello; Costa, Bartira Ercília Pinheiro da; Poli-de-Figueiredo, Carlos Eduardo; Gadonski, Giovani

    2016-06-01

    To describe a case of Posterior Reversible Encephalopathy Syndrome diagnosed in pregnant women with late-eclampsia, as well as its clinical management. A 34 years old patient in her third pregnancy had started with high blood pressure levels during labor; after eleven days postpartum, she presented a decreased right visual acuity; subsequently one episode of seizure followed by partial loss of vision in the right eye. After conducting tests and ruled out stroke, the patient was diagnosed as Posterior Reversible Encephalopathy Syndrome (PRES). Established the clinical management of seizures and hypertensive crisis, there was complete remission of symptoms and reversal of the initial clinical picture. Once properly diagnosed and treated, the Posterior Reversible Encephalopathy Syndrome can present satisfactory progress, especially when associated with an acutely triggered factor, as eclampsia.

  13. 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....

  14. Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism.

    Science.gov (United States)

    Mensa-Vilaro, Anna; Cham, Weng Tarng; Tang, Swee Ping; Lim, Sern Chin; González-Roca, Eva; Ruiz-Ortiz, Estibaliz; Ariffin, Roziana; Yagüe, Jordi; Aróstegui, Juan I

    2016-04-01

    Blau syndrome is characterized by noncaseating granulomatous arthritis, dermatitis, and uveitis, and results from gain-of-function NOD2 mutations. This study was undertaken to identify the genetic cause of the disease in a family with 3 members with Blau syndrome. We studied a family with 3 affected members across 2 consecutive generations. The children's symptoms started early (at 6 and 7 months of age) and included polyarthritis, dermatitis, uveitis, and fever. In contrast, the father's symptoms started later (at 22 years of age) and included noncaseating granulomatous dermatitis and uveitis. We analyzed the NOD2 gene in all patients by both the Sanger method of DNA sequencing and amplicon-based deep sequencing using an Ion Torrent PGM platform. Sanger chromatograms revealed the heterozygous c.1001G>A transition in both children, which resulted in the p.Arg334Gln mutation that causes Blau syndrome. In contrast, the father's chromatograms revealed a small peak of adenine at the c.1001 position, suggesting the presence of a somatic NOD2 mutation. To evaluate this hypothesis, we performed amplicon-based deep sequencing using DNA from different tissues, which confirmed a variable degree (0.9-12.9%) of somatic NOD2 mosaicism. The previous detection of the NOD2 mutation in his daughters strongly suggests the presence of gonosomal (somatic plus gonadal) NOD2 mosaicism in the father. Comparative analyses with Blau syndrome patients carrying the germline p.Arg334Gln NOD2 mutation revealed late onset of the disease, a mild inflammatory phenotype, and an absence of complications in patients with NOD2 mosaicism. This is the first description of gonosomal NOD2 mosaicism as the cause of intrafamilial recurrence of Blau syndrome. Our findings also indicate that Blau syndrome includes more diverse and milder phenotypes than previously described. © 2016, American College of Rheumatology.

  15. Laparoscopic Nephron-sparing Treatment of Upper Pole Infundibular Obstruction due to Fraley's Syndrome

    Directory of Open Access Journals (Sweden)

    Joseph M. Armstrong

    2016-01-01

    Full Text Available Fraley's syndrome results from a rare anatomic variant of the renal vasculature leading to compression of the upper pole infundibulum, caliectasis, hematuria, and flank pain. To date there have been few reported cases in which this condition was treated using a minimally invasive approach. Here, we report a case in which a patient with Fraley's syndrome was successfully treated by performing a laparoscopic YV-infundibulo-pyeloplasty with vasculopexy of a posterior segmental renal artery. Minimally invasive collecting system reconstruction without vascular clamping is feasible, potentially less destructive and offers significant advantages in terms of intraoperative visualization and perioperative patient morbidity.

  16. 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.

  17. 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.

  18. A disconnection syndrome due to agenesis of the corpus callosum: disturbance of unilateral synchronization.

    Science.gov (United States)

    Midorikawa, Akira; Kawamura, Mitsuru; Takaya, Rieko

    2006-04-01

    Recently, interhemispheric disconnection syndromes have been noted in patients with agenesis of the corpus callosum (ACC) during the performance of certain tasks. However, few studies have demonstrated an asymmetric disconnection syndrome. In this report, we present just such a syndrome in a patient with ACC, who manifested ambidexterity (but with a left-hand tendency) and had high intelligence, no neurological deficits, and no associated malformations. In a comparison with similar subjects (amateur musician), we studied her asymmetric deficits using four tasks: (1) simple reaction time for visual stimuli, (2) paced finger tapping in synchrony with visual or auditory stimuli, (3) paced finger tapping without an external reference, and (4) rhythmical finger tapping in synchrony with visual or auditory stimuli. While the comparable subjects displayed no significant difference between hands, and the patient showed no significant difference between hands in the auditory paradigm, her tapping performance deteriorated significantly when asked to synchronize the left hand with timed visual stimuli, irrespective of whether finger tapping was paced or rhythmical. We believe that this phenomenon constitutes a novel asymmetrical disconnection syndrome in an ACC subject; these results suggest that synchronization of multimodal temporal information was lateralized in the left hemisphere (in this case), which is something that the ACC patient could not compensate for.

  19. Fatal Disseminated Kaposi's Sarcoma due to Immune Reconstitution Inflammatory Syndrome following HAART Initiation

    Directory of Open Access Journals (Sweden)

    Fatuma Catherine Atieno Odongo

    2013-01-01

    Full Text Available This is a case report of disseminated Kaposi's sarcoma in the context of immune reconstitution inflammatory syndrome in an HIV-infected patient on HAART regimen for 2 months. The patient rapidly progressed to death in 5 days after worsening pulmonary infiltrates and multiple organ failure.

  20. 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

  1. 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,…

  2. 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

  3. Late compartment syndrome of the hand due to wasp sting in a child.

    Science.gov (United States)

    Petratos, Dimitrios V; Galanakos, Spyridon P; Stavropoulos, Nikolaos A; Anastasopoulos, John N

    2011-01-01

    We report a 6-year-old girl, with no history of previous anaphylactic reaction, who sustained a wasp sting to the volar aspect of her left hand. The child did not present any symptoms at the beginning. She was first examined at the emergency department with developed compartment syndrome, after more than 24 hours later and she was urgently taken to the operating theatre. The midpalmar, thenar, and hypothenar spaces were decompressed, and the transverse carpal ligament was released. At the 11-month followup, she presented with normal function of the hand and normal 2-point discrimination in all fingers. Although the accurate mechanism of the development of compartment syndrome after a wasp sting in children is not thoroughly clear, the treatment seems to be the same as in all other cases of compartment syndrome; urgent fasciotomy. It is very important to keep in mind the possibility, even if it is extremely low, of compartment syndrome after a wasp sting in children; even of those with no history of anaphylactic reaction.

  4. 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...

  5. Reversible postural tachycardia syndrome due to inadvertent overuse of Red Bull.

    Science.gov (United States)

    Terlizzi, Rossana; Rocchi, Camilla; Serra, Maria; Solieri, Laura; Cortelli, Pietro

    2008-08-01

    Postural tachycardia syndrome associated with a vasovagal reaction was recorded in a young volleyball player after an excess intake of Red Bull as a refreshing energy drink. Considering the widespread use of Red Bull among young people who are often unaware of the drink's drug content, this case report suggest Red Bull be considered a possible cause of orthostatic intolerance.

  6. 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

  7. Recurrent gastrointestinal perforation in a patient with Ehlers-Danlos syndrome due to tenascin-X deficiency.

    Science.gov (United States)

    Sakiyama, Tomo; Kubo, Akiharu; Sasaki, Takashi; Yamada, Taketo; Yabe, Nobushige; Matsumoto, Ken-ichi; Futei, Yuko

    2015-05-01

    Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous disorder. Using a customized targeted exome-sequencing system we identified nonsense mutations in TNXB in a patient who had recurrent gastrointestinal perforation due to tissue fragility. This case highlights the utility of targeted exome sequencing for the diagnosis of congenital diseases showing genetic heterogeneity, and the importance of attention to gastrointestinal perforation in patients with tenascin-X deficient type EDS. © 2015 Japanese Dermatological Association.

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

    OpenAIRE

    Anene Ukaigwe; Paras Karmacharya; Anthony Donato

    2014-01-01

    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...

  9. Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.

    Science.gov (United States)

    Le Goff, Carine; Mahaut, Clémentine; Bottani, Armand; Doray, Berenice; Goldenberg, Alice; Moncla, Anne; Odent, Sylvie; Nitschke, Patrick; Munnich, Arnold; Faivre, Laurence; Cormier-Daire, Valérie

    2013-01-01

    Floating-Harbor syndrome (FHS) is a rare disorder characterized by short stature, delayed bone age, speech delay, and dysmorphic facial features. We report here the molecular analysis of nine cases, fulfilling the diagnostic criteria for FHS. Using exome sequencing, we identified SRCAP as the disease gene in two cases and subsequently found SRCAP truncating mutations in 6/9 cases. All mutations occurred de novo and were located in exon 34, in accordance with the recent report of Hood et al. However, the absence of SRCAP mutations in 3/9 cases supported genetic heterogeneity of FH syndrome. Importantly, no major clinical differences were observed supporting clinical homogeneity in this series of FHS patients. © 2012 Wiley Periodicals, Inc.

  10. 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.

  11. The Forgotten One: Lemierre’s Syndrome Due to Gram-Negative Rods Prevotella Bacteremia

    Science.gov (United States)

    Wani, Priyanka; Antony, Nishaal; Wardi, Miraie; Rodriguez-Castro, Carlos E.; Teleb, Mohamed

    2016-01-01

    Patient: Male, 22 Final Diagnosis: Lemierre’s syndrome Symptoms: Dyspnea • chest pain • swelling Medication: — Clinical Procedure: Thoracentesis Specialty: Infectious Diseases Objective: Rare co-existance of disease or pathology Background: Lemierre’s syndrome (LS) is a rare syndrome caused by an acute oropharyngeal infection with metastatic spreading. It was described in 1939 as jugular vein septic thrombophlebitis associated with retropharyngeal infection. Different organisms can cause LS, such as Fusobacterium species, Peptostreptococcus, group B and C, Streptococcus, Staphylococcus, and Enterococcus species, but the most commonly isolated pathogen is Fusobacterium necrophorum, a common oral flora. Management depends on the initial presentation, type of pathogen isolated, and proper selection of antibiotics. Case Report: We report a case of a 22-year-old man with no past medical history, who presented with left jaw pain and progressive left facial area swelling associated with dyspnea. A final diagnosis of LS was made based on criteria of computed tomography (CT) of the neck and the clinical symptoms. The patient was started on broad-spectrum antibiotics. Subsequent imaging of the chest showed pleural effusion with septic emboli. He underwent thoracentesis and chest tube placement. Final blood cultures were remarkable for gram-negative rods – Prevotella anaerobes – which supported the diagnosis of LS. His condition improved, including the dyspnea, and he was discharged on the proper antibiotics coverage with outpatient follow-up. Conclusions: LS is a rare condition associated with metastatic infection spreading. This syndrome can be associated with further complications, such as pleural effusions and/or empyemas. Early recognition is important to prevent fatal complications and provide adequate antibiotics coverage. We report only the third case in the medical literature of Prevotella-induced LS with a secondary complication of pleural effusion

  12. Episodic tremors representing cortical myoclonus are characteristic in Angelman syndrome due to UBE3A mutations.

    Science.gov (United States)

    Goto, Masahide; Saito, Yoshiaki; Honda, Ryoko; Saito, Takashi; Sugai, Kenji; Matsuda, Yuko; Miyatake, Chiharu; Takeshita, Eri; Ishiyama, Akihiko; Komaki, Hirofumi; Nakagawa, Eiji; Sasaki, Masayuki; Uto, Chieko; Kikuchi, Kenjiro; Motoki, Takahiro; Saitoh, Shinji

    2015-02-01

    Neurological manifestations including psychomotor developmental delay and epilepsy in patients with Angelman syndrome caused by ubiquitin protein ligase E3A (UBE3A) mutations has been considered similar but is relatively milder than that in patients with deletion-type Angelman syndrome. This makes the diagnosis of the former subgroup often difficult. We here characterized epilepsy, specifically the types of tremulous movement, in 4 patients (age, 3-38years) with Angelman syndrome caused by UBE3A mutations. Ictal electroencephalography was used to record episodic tremors in all study patients. Jerk-locked averaging was performed using digital electroencephalography and surface electromyogram data from patients who were monitored for 24h. All patients had tremors in the limbs, head, and trunk, which resulted in 2 patients falling backward. These tremors lasted several seconds, and could emerge in clusters for hours in older patients. In addition, the tremors coincided with 7-8Hz rhythmic activity with a frontocentral predominance, diffuse spike-wave bursts, or no apparent change on electroencephalography. In 2 patients, these tremors were confirmed as cortical myoclonus using jerk-locked averaging. The other seizure types were isolated generalized myoclonus and tonic seizures. None of the patients experienced atypical absence seizures. Levetiracetam therapy was effective in controlling the myoclonic events in 2 of the 3 patients. Semirhythmic myoclonus is common in patients with Angelman syndrome caused by UBE3A mutations, and such myoclonic events are often life disabling. The preserved expression of gamma-aminobutyric acid type A receptor subunit genes located proximal to UBE3A might explain the low prevalence of absence seizures in this population. Copyright © 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  13. Drug rash with eosinophilia and systemic symptoms syndrome due to anti-TB medication

    Directory of Open Access Journals (Sweden)

    Dharmesh H Kaswala

    2013-01-01

    Full Text Available Drug rash with eosinophilia and systemic symptoms (DRESS syndrome is a severe, idiosyncratic, multi-system reaction characterized by the clinical triad of fever, rash, and internal organ involvement. The mortality rate is estimated to be 8%, especially among patients with liver involvement, so early recognition is imperative. Drugs commonly associated with the development of DRESS syndrome include anticonvulsants, long-acting sulfonamides, and anti-inflammatory medications; however, there are no reported cases implicating anti-tuberculosis (anti-TB medications. We report a case of DRESS syndrome from anti-TB therapy. A 68-year-old male with pulmonary TB presented with pruritic skin eruption and sore throat, 8 weeks after starting Rifampin, Isoniazid, Pyrazinamide, and Ethambutol (RIPE therapy. He takes metformin and glyburide for diabetes. Physical exam was significant for diffuse, exfoliative erythematous macules with target lesions involving the entire skin surface, without mucosal involvement. Laboratory data was significant for mild transaminitis and new onset eosinophilia. Given suspicion of drug eruption, RIPE therapy was discontinued. Skin biopsy confirmed erythema multiforme. Despite discontinuation of the implicated medications, eosinophilia and transaminitis continued to worsen, and so systemic corticosteroids were started. After 4 weeks of discontinuation of RIPE therapy, the cutaneous eruption resolved and laboratory data returned to normal. The patient is finishing course of anti-TB with cycloserine and moxifloxacin. Upon follow up as outpatient, the rash was resolving and disappeared in 1 month. DRESS syndrome is always considered when there is high eosinophil counts and multisystem involvement with skin eruptions. It can be potentially life threatening with certain drugs and infectious agents in predisposed individuals. It is imperative to discontinue the causative medication and avoid re-exposure.

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

    OpenAIRE

    Takamasa Nanba; Hiroshi Kashimura; Hiroaki Saura; Masaru Takeda

    2016-01-01

    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 blo...

  15. Hypocalcemia and hypokalemia due to hyperventilation syndrome in spinal anesthesia -A case report-

    OpenAIRE

    Moon, Hyun Soo; Lee, Soo Kyung; Chung, Ji Hoon; In, Chi Bum

    2011-01-01

    Hyperventilation syndrome (HVS) often occurs under stressful conditions, and has been reported during or after anesthesia and operation. HVS, characterized by multiple somatic symptoms and electrolyte imbalances induced by inappropriate hyperventilation, should be managed as an emergency. We report a rare case of HVS during spinal anesthesia. The patient was a previously healthy 51-year-old female without psychogenic conditions. During spinal anesthesia for lower extremity surgery, the patien...

  16. 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.

  17. 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.

  18. Successful Treatment for Chronic Hepatitis C-Autoimmune Hepatitis Overlap Syndrome due to Daclatasvir and Asunaprevir

    Directory of Open Access Journals (Sweden)

    Ayumi Sugiura

    2017-05-01

    Full Text Available Persistent hepatitis C virus (HCV infection may induce autoimmune diseases and chronic hepatitis C is sometimes accompanied by autoimmune hepatitis (AIH. However, we are worried about the treatment for chronic hepatitis C-AIH overlap syndrome because interferon-based antiviral therapies may enhance autoimmunity and immunosuppressive corticosteroid administration may promote viral replication. Here, we report a patient having chronic hepatitis C-AIH overlap syndrome treated with the direct-acting antivirals (DAA, daclatasvir and asunaprevir. A 50-year-old man was referred to our hospital because of positive anti-HCV antibody and liver dysfunction at a health checkup. Blood tests showed increased immunoglobulin G (IgG and a high titer of antinuclear antibody (ANA in addition to elevated serum alanine aminotransferase (ALT and HCV-RNA. Infiltration of lymphocytes and plasma cells in Glisson’s capsule and severe interface hepatitis were observed in biopsied specimen, which fulfilled the criteria of AIH. We first started oral corticosteroid administration, and serum ALT levels decreased once but elevated again. We commenced daclatasvir and asunaprevir (60 and 200 mg/day, respectively and serum HCV-RNA became negative after 6 weeks. Adverse effects were not found during the DAA treatment, and serum ALT, IgG, and ANA were significantly decreased. Corticosteroid could be tapered and stopped, but no recurrence occurred. DAA treatment appears to be effective and safe for the patients with chronic hepatitis C-AIH overlap syndrome.

  19. Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations.

    Science.gov (United States)

    Pfeffer, Gerald; Blakely, Emma L; Alston, Charlotte L; Hassani, Adam; Boggild, Mike; Horvath, Rita; Samuels, David C; Taylor, Robert W; Chinnery, Patrick F

    2012-09-01

    Spinocerebellar ataxia syndromes presenting in adulthood have a broad range of causes, and despite extensive investigation remain undiagnosed in up to ∼50% cases. Mutations in the mitochondrially encoded MTATP6 gene typically cause infantile-onset Leigh syndrome and, occasionally, have onset later in childhood. The authors report two families with onset of ataxia in adulthood (with pyramidal dysfunction and/or peripheral neuropathy variably present), who are clinically indistinguishable from other spinocerebellar ataxia patients. Genetic screening study of the MTATP6 gene in 64 pedigrees with unexplained ataxia, and case series of two families who had MTATP6 mutations. Three pedigrees had mutations in MTATP6, two of which have not been reported previously and are detailed in this report. These families had the m.9185T>C and m.9035T>C mutations, respectively, which have not previously been associated with adult-onset cerebellar syndromes. Other investigations including muscle biopsy and respiratory chain enzyme activity were non-specific or normal. MTATP6 sequencing should be considered in the workup of undiagnosed ataxia, even if other investigations do not suggest a mitochondrial DNA disorder.

  20. A Case of Brown-Vialetto-Van Laere Syndrome Due To a Novel Mutation in Gene

    Directory of Open Access Journals (Sweden)

    Venkatraman Thulasi BA

    2017-08-01

    Full Text Available Brown-Vialetto-Van Laere syndrome is a rare disorder characterized by motor, sensory, and cranial neuronopathies, associated with mutations in SLC52A2 and SLC52A3 genes that code for human riboflavin transporters RFVT2 and RFVT3, respectively. The authors describe the clinical course of a 6-year-old girl with Brown-Vialetto-Van Laere syndrome and a novel homozygous mutation c.1156T>C in the SLC52A3 gene, who presented at the age of 2.5 years with progressive brain stem dysfunction including ptosis, facial weakness, hearing loss, dysphagia, anarthria with bilateral vocal cord paralysis, and ataxic gait. She subsequently developed respiratory failure requiring tracheostomy and worsening dysphagia necessitating a gastrostomy. Following riboflavin supplementation, resolution of facial diplegia and ataxia, improvements in ptosis, and bulbar function including vocalization and respiration were noted. However, her sensorineural hearing loss remained unchanged. Similar to other cases of Brown-Vialetto-Van Laere syndrome, our patient responded favorably to early riboflavin supplementation with significant but not complete neurologic recovery.

  1. The Forgotten One: Lemierre's Syndrome Due to Gram-Negative Rods Prevotella Bacteremia.

    Science.gov (United States)

    Wani, Priyanka; Antony, Nishaal; Wardi, Miraie; Rodriguez-Castro, Carlos E; Teleb, Mohamed

    2016-01-11

    Lemierre's syndrome (LS) is a rare syndrome caused by an acute oropharyngeal infection with metastatic spreading. It was described in 1939 as jugular vein septic thrombophlebitis associated with retropharyngeal infection. Different organisms can cause LS, such as Fusobacterium species, Peptostreptococcus, group B and C, Streptococcus, Staphylococcus, and Enterococcus species, but the most commonly isolated pathogen is Fusobacterium necrophorum, a common oral flora. Management depends on the initial presentation, type of pathogen isolated, and proper selection of antibiotics. We report a case of a 22-year-old man with no past medical history, who presented with left jaw pain and progressive left facial area swelling associated with dyspnea. A final diagnosis of LS was made based on criteria of computed tomography (CT) of the neck and the clinical symptoms. The patient was started on broad-spectrum antibiotics. Subsequent imaging of the chest showed pleural effusion with septic emboli. He underwent thoracentesis and chest tube placement. Final blood cultures were remarkable for gram-negative rods - Prevotella anaerobes - which supported the diagnosis of LS. His condition improved, including the dyspnea, and he was discharged on the proper antibiotics coverage with outpatient follow-up. LS is a rare condition associated with metastatic infection spreading. This syndrome can be associated with further complications, such as pleural effusions and/or empyemas. Early recognition is important to prevent fatal complications and provide adequate antibiotics coverage. We report only the third case in the medical literature of Prevotella-induced LS with a secondary complication of pleural effusion.

  2. Successful Treatment for Chronic Hepatitis C-Autoimmune Hepatitis Overlap Syndrome due to Daclatasvir and Asunaprevir.

    Science.gov (United States)

    Sugiura, Ayumi; Wada, Shuichi; Mori, Hiromitsu; Kimura, Takefumi; Matsuda, Yoshiaki; Tanaka, Naoki; Tanaka, Eiji; Kiyosawa, Kendo

    2017-01-01

    Persistent hepatitis C virus (HCV) infection may induce autoimmune diseases and chronic hepatitis C is sometimes accompanied by autoimmune hepatitis (AIH). However, we are worried about the treatment for chronic hepatitis C-AIH overlap syndrome because interferon-based antiviral therapies may enhance autoimmunity and immunosuppressive corticosteroid administration may promote viral replication. Here, we report a patient having chronic hepatitis C-AIH overlap syndrome treated with the direct-acting antivirals (DAA), daclatasvir and asunaprevir. A 50-year-old man was referred to our hospital because of positive anti-HCV antibody and liver dysfunction at a health checkup. Blood tests showed increased immunoglobulin G (IgG) and a high titer of antinuclear antibody (ANA) in addition to elevated serum alanine aminotransferase (ALT) and HCV-RNA. Infiltration of lymphocytes and plasma cells in Glisson's capsule and severe interface hepatitis were observed in biopsied specimen, which fulfilled the criteria of AIH. We first started oral corticosteroid administration, and serum ALT levels decreased once but elevated again. We commenced daclatasvir and asunaprevir (60 and 200 mg/day, respectively) and serum HCV-RNA became negative after 6 weeks. Adverse effects were not found during the DAA treatment, and serum ALT, IgG, and ANA were significantly decreased. Corticosteroid could be tapered and stopped, but no recurrence occurred. DAA treatment appears to be effective and safe for the patients with chronic hepatitis C-AIH overlap syndrome.

  3. Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations.

    Science.gov (United States)

    Zenteno, Juan Carlos; Ruiz, Gabriela; Pérez-Cano, Hector J; Camargo, Mayra

    2008-07-25

    To describe the first instance of genotyping in a Latin American family with Wolfram syndrome (WS). Four affected siblings and their healthy parents were studied. Ophthalmologic examination included best corrected visual acuity determination, funduscopy, fluorescein retinal angiography, and Goldmann kinetic perimetry. Molecular methods included linkage analysis using microsatellites markers located on the markers located on the Wofram syndrome 1 (WFS1) region at 4p16.1, PCR amplification and direct nucleotide sequencing analysis of the complete coding region and exon/intron junctions of WFS1. In addition, allele-specific cloning and sequencing techniques were used to characterize a heterozygous frameshift mutation. The four affected siblings presented with a homogeneous clinical picture characterized by early onset diabetes mellitus, severe optic atrophy, and progressive hearing loss. Linkage analysis indicated that all four sibs were heterozygous for markers linked to the WFS1 region and that each inherited the same allele from the mother and the same from the father, suggesting compound heterozygosity. Direct WFS1 analysis disclosed a paternally inherited novel missense R177P mutation whereas allele-specific cloning and sequencing revealed a novel WFS1 16 bp deletion that was inherited from the mother. Our report of two novel WFS1 mutations expands the molecular spectrum of Wolfram syndrome. This is the first documented case of the molecular basis of the disease in a Latin American family. Analysis of more patients from this population will establish if compound heterozygosity is commonly found in affected individuals from this ethnic group.

  4. Exogenous Cushing's syndrome due to topical corticosteroid application: case report and review literature.

    Science.gov (United States)

    Tempark, Therdpong; Phatarakijnirund, Voraluk; Chatproedprai, Susheera; Watcharasindhu, Suttipong; Supornsilchai, Vichit; Wananukul, Siriwan

    2010-12-01

    Prolonged use of topical corticosteroids causes systemic adverse effects including Cushing's syndrome and hypothalamic-pituitary-adrenal (HPA) axis suppression, which is less common than that of the oral or parenteral route. At least 43 cases with iatrogenic Cushing syndrome from very potent topical steroid usage (Clobetasol) in children and adult have been published over the last 35 years particularly in developing countries. In children group (n = 22), most are infants with diaper dermatitis and two cases who had started topical application at a very early age and died from severe disseminated CMV infection. For the adult group (n = 21), the most common purpose of steroid use was for treatment of Psoriasis. The recovery period of HPA axis suppression was 3.49 ± 2.92 and 3.84 ± 2.51 months in children and adult, respectively. We report on an 8-month-old female infant who developed Cushing's syndrome and adrenal insufficiency after diaper dermatitis treatment through the misuse of Clobetasol without doctor's prescription. Physiologic dose of hydrocortisone was prescribed to prevent an adrenal crisis for 3 months and discontinued when HPA axis recovery was confirmed by normal morning cortisol and ACTH levels.

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

    Science.gov (United States)

    Main, K M; Skov, M; Sillesen, I B; Dige-Petersen, H; Müller, J; Koch, C; Lanng, S

    2002-01-01

    Treatment of allergic bronchopulmonary aspergillosis with itraconazole is becoming more widespread in chronic lung diseases. A considerable number of patients is concomitantly treated with topical or systemic glucocorticoids for anti-inflammatory effect. As azole compounds inhibit cytochrome P450 enzymes such as CYP3A isoforms, they may compromise the metabolic clearance of glucocorticoids, thereby causing serious adverse effects. A patient with cystic fibrosis is reported who developed iatrogenic Cushing's syndrome after long-term treatment with daily doses of 800 mg itraconazole and 1,600 microg budesonide. The patient experienced symptoms of striae, moon-face, increased facial hair growth, mood swings, headaches, weight gain, irregular menstruation despite oral contraceptives and increasing insulin requirement for diabetes mellitus. Endocrine investigations revealed total suppression of spontaneous and stimulated plasma cortisol and adrenocorticotropin. Discontinuation of both drugs led to an improvement in clinical symptoms and recovery of the pituitary-adrenal axis after 3 mo. This observation suggests that the metabolic clearance of buDesonide was compromised by itraconazole's inhibition of cytochrome P450 enzymes, especially the CYP3A isoforms, causing an elevation in systemic budesonide concentration. This provoked a complete suppression of the endogenous adrenal function, as well as iatrogenic Cushing's syndrome. Patients on combination therapy of itraconazole and budesonide inhalation should be monitored regularly for adrenal insufficiency. This may be the first indicator of increased systemic exogenous steroid concentration, before clinical signs of Cushing's syndrome emerge.

  6. 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

    1998-01-01

    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. PMID:9585583

  7. Angelman Syndrome due to familial translocation: unexpected additional results characterized by Microarray-based Comparative Genomic Hybridization.

    Science.gov (United States)

    Yokoyama-Rebollar, Emiy; Ruiz-Herrera, Adriana; Lieberman-Hernández, Esther; Del Castillo-Ruiz, Victoria; Sánchez-Sandoval, Silvia; Ávila-Flores, Silvia M; Castrillo, José Luis

    2015-01-01

    The 15q11q13 region is subject to imprinting and is involved in various structural rearrangements. Less than 1% of Angelman Syndrome patients are due to translocations involving 15q11q13. These translocations can arise de novo or result from the segregation of chromosomes involved in a familial balanced translocation. A 5-year-old Mexican girl presented with developmental delay, minor dysmorphic features and history of exotropia. G-banding chromosome analysis established the diagnosis of Angelman Syndrome resulting from a familial translocation t(10;15) involving the 15q11.2 region. The available family members were studied using banding and molecular cytogenetic techniques, including Microarray-based Comparative Genomic Hybridization, which revealed additional unexpected results: a coincidental and smaller 15q deletion, asymptomatic duplications in 15q11.2 and Xp22.31 regions. This report demonstrates the usefulness of array CGH for a detailed characterization of familial translocations, including the detection of submicroscopic copy number variations, which would otherwise be missed by karyotype analysis alone. Our report also expands two molecularly characterized rare patient cohorts: Angelman Syndrome patients due to familial translocations and patients with 15q11.2 duplications of paternal origin.

  8. 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.

  9. 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.

  10. Spontaneous Tumor Lysis Syndrome due to Uterine Leiomyosarcoma with Lung Metastases

    Directory of Open Access Journals (Sweden)

    Vivek Alaigh

    2017-01-01

    Full Text Available Tumor lysis syndrome (TLS is an oncologic emergency characterized by a combination of metabolic derangements (hyperuricemia, hyperkalemia, hyperphosphatemia, and hypocalcemia caused by rapid turnover from cell destruction in certain cancers. These metabolic derangements can lead to seizures, cardiac arrhythmias, renal failure, and death. TLS is usually seen after the initiation of chemotherapy for hematologic malignancies. TLS occurring spontaneously, without initiation of chemotherapy, is rare and its occurrence in solid tumors is rarer still. We report a case of spontaneous TLS in a patient with leiomyosarcoma of the uterus, with metastasis to lung. Such a case has never been reported before.

  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. Intracranial hemorrhage due to intracranial hypertension caused by the superior vena cava syndrome.

    Science.gov (United States)

    Bartek, Jiri; Abedi-Valugerdi, Golbarg; Liska, Jan; Nyström, Harriet; Andresen, Morten; Mathiesen, Tiit

    2013-07-01

    We report a patient with intracranial hemorrhage secondary to venous hypertension as a result of a giant aortic pseudoaneurysm that compressed the superior vena cava and caused obstruction of the venous return from the brain. To our knowledge, this is the first patient reported to have an intracranial hemorrhage secondary to a superior vena cava syndrome. The condition appears to be caused by a reversible transient rise in intracranial pressure, as a result of compression of the venous return from the brain. Treatment consisted of surgery for the aortic pseudoaneurysm, which led to normalization of the intracranial pressure and resorption of the intracranial hemorrhage. Copyright © 2012 Elsevier Ltd. All rights reserved.

  13. 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. © 2012 John Wiley & Sons Ltd.

  14. [Sick building syndrome due to exposure to pentachlorophenol in the office: a case report].

    Science.gov (United States)

    Wittczak, Tomasz; Dudek, Wojciech; Walusiak, Jolanta; Krakowiak, Anna; Pałczyński, Cezary

    2006-01-01

    "Sick building syndrome" (SBS) is a group of symptoms experienced by people working in various buildings. This or another term "building-related illness" (BRI) is used to define illnesses related to modern buildings, mainly offices, in which people spend many working hours. SBS applies to a group of diseases with a fairly homogenous clinical picture and etiology (specific - infectious, allergic and non-specific--for example irritant symptoms). A case of a 51-year-old non-smoking female office worker is reported. After having her working premise renovated, she started to suffer from irritation of mucous membrane of the throat, sore throat and dysphonia. She claimed that these symptoms were associated with exposure to pentachlorophenol (PCP) emitted by the elements of ceiling impregnated with PCP-containing varnish. The concentration of PCP was below the hygiene standards adopted for the work environment. There were no grounds for recognizing occupational intoxication, but the case met the criteria for the sick building syndrome.

  15. 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.

  16. 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.

  17. 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.

  18. Hypertensive crisis in pregnancy due to a metamorphosing pheochromocytoma with postdelivery Cushing's syndrome.

    Science.gov (United States)

    Langton, Katharina; Gruber, Matthias; Masjkur, Jimmy; Steenblock, Charlotte; Peitzsch, Mirko; Meinel, Jörn; Lenders, Jacques; Bornstein, Stefan; Eisenhofer, Graeme

    2017-09-22

    Pheochromocytomas in pregnancy are rare but potentially lethal. Even rarer is the combination of pheochromocytoma in pregnancy with subsequent development of ectopic Cushing's syndrome. We report a 36-year-old woman, previously diagnosed with essential hypertension, who developed severe hypertension in pregnancy complicated by insulin-dependent gestational diabetes. A cesarean section was performed at 32 weeks following a hypertensive crisis after routine administration of betamethasone. Postnatal persistence of signs and symptoms of catecholamine excess led to the diagnosis of a left adrenal pheochromocytoma. Between diagnosis and planned tumor removal, the patient developed signs and symptoms of Cushing's syndrome (facial edema and hirsutism, myopathy and fatigue). Biochemical testing confirmed hypercortisolism with extremely elevated levels of plasma adrenocorticotropin, urinary cortisol and multiple steroids of a plasma panel that were all normal at previous testing. The previously noradrenergic tumor also started producing epinephrine. Histopathological examination confirmed the pheochromocytoma, which was also immunohistochemically positive for adrenocorticotropin. Full post-surgical recovery was sustained with normal blood pressure and biochemical findings after one year. This report not only underlines the chameleon behavior of pheochromocytoma but also illustrates its potential for a metamorphosing presentation. Corticosteroid administration in pregnancy requires a cautious approach in patients with hypertension.

  19. Neonatal liver failure and Leigh syndrome possibly due to CoQ-responsive OXPHOS deficiency.

    Science.gov (United States)

    Leshinsky-Silver, E; Levine, A; Nissenkorn, A; Barash, V; Perach, M; Buzhaker, E; Shahmurov, M; Polak-Charcon, S; Lev, D; Lerman-Sagie, T

    2003-08-01

    CoQ transfers electrons from complexes I and II of the mitochondrial respiratory chain to complex III. There are very few reports on human CoQ deficiency. The clinical presentation is usually characterized by: epilepsy, muscle weakness, ataxia, cerebellar atrophy, migraine, myogloblinuria and developmental delay. We describe a patient who presented with neonatal liver and pancreatic insufficiency, tyrosinemia and hyperammonemia and later developed sensorineural hearing loss and Leigh syndrome. Liver biopsy revealed markedly reduced complex I+III and II+III. Addition of CoQ to the liver homogenate restored the activities, suggesting CoQ depletion. Histological staining showed prominent bridging; septal fibrosis and widening of portal spaces with prominent mixed inflammatory infiltrate, associated with interface hepatitis, bile duct proliferation with numerous bile plugs. Electron microscopy revealed a large number of mitochondria, which were altered in shape and size, widened and disordered intercristal spaces. This may be the first case of Leigh syndrome with liver and pancreas insufficiency, possibly caused by CoQ responsive oxphos deficiency.

  20. 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.

  1. 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 compartment syndrome. Surgical exploration confirmed a small volume of ascites and blood clots (1.2 L) under significant pressure in his supramesocolic region, restricted by his frozen lower 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

  2. Intracranial hemorrhage due to intracranial hypertension caused by the superior vena cava syndrome

    DEFF Research Database (Denmark)

    Bartek, Jiri; Abedi-Valugerdi, Golbarg; Liska, Jan

    2013-01-01

    We report a patient with intracranial hemorrhage secondary to venous hypertension as a result of a giant aortic pseudoaneurysm that compressed the superior vena cava and caused obstruction of the venous return from the brain. To our knowledge, this is the first patient reported to have an intracr......We report a patient with intracranial hemorrhage secondary to venous hypertension as a result of a giant aortic pseudoaneurysm that compressed the superior vena cava and caused obstruction of the venous return from the brain. To our knowledge, this is the first patient reported to have...... an intracranial hemorrhage secondary to a superior vena cava syndrome. The condition appears to be caused by a reversible transient rise in intracranial pressure, as a result of compression of the venous return from the brain. Treatment consisted of surgery for the aortic pseudoaneurysm, which led...

  3. Fetal and neonatal abnormalities due to congenital rubella syndrome: a review of literature.

    Science.gov (United States)

    Yazigi, Alexandre; De Pecoulas, Aurelia Eldin; Vauloup-Fellous, Christelle; Grangeot-Keros, Liliane; Ayoubi, Jean-Marc; Picone, Olivier

    2017-02-01

    Rubella virus infection during the first trimester of pregnancy can cause congenital rubella syndrome (CRS). We aimed to describe the abnormalities in order to define the ultrasound features to look for when performing prenatal scans. The goal of this review is to focus specifically on the signs of CRS accessible to prenatal diagnosis. We analyzed every case of CRS described before and/or after birth that we identified in the Pubmed database and classified them as accessible or not to prenatal diagnosis. The most frequently reported malformations accessible to prenatal diagnosis were: cardiac septal defects, pulmonary artery stenosis, microcephaly, cataract, microphtalmia, and hepatosplenomegaly. This extensive literature review shows that the ultrasound features of CRS are not well known, even though rubella was the first teratogenic virus described. This review will help clinicians in the management of rubella during pregnancy by clarifying the findings to be sought.

  4. Evidence for premature aging due to oxidative stress in iPSCs from Cockayne syndrome.

    Science.gov (United States)

    Andrade, Luciana Nogueira de Sousa; Nathanson, Jason L; Yeo, Gene W; Menck, Carlos Frederico Martins; Muotri, Alysson Renato

    2012-09-01

    Cockayne syndrome (CS) is a human premature aging disorder associated with neurological and developmental abnormalities, caused by mutations mainly in the CS group B gene (ERCC6). At the molecular level, CS is characterized by a deficiency in the transcription-couple DNA repair pathway. To understand the role of this molecular pathway in a pluripotent cell and the impact of CSB mutation during human cellular development, we generated induced pluripotent stem cells (iPSCs) from CSB skin fibroblasts (CSB-iPSC). Here, we showed that the lack of functional CSB does not represent a barrier to genetic reprogramming. However, iPSCs derived from CSB patient's fibroblasts exhibited elevated cell death rate and higher reactive oxygen species (ROS) production. Moreover, these cellular phenotypes were accompanied by an up-regulation of TXNIP and TP53 transcriptional expression. Our findings suggest that CSB modulates cell viability in pluripotent stem cells, regulating the expression of TP53 and TXNIP and ROS production.

  5. Complete androgen insensitivity syndrome due to X chromosome inversion: a clinical report.

    Science.gov (United States)

    Xu, Weizhen; Robert, Claudia; Thornton, Paul S; Spinner, Nancy B

    2003-07-30

    We have studied a patient with complete androgen insensitivity syndrome (CAIS) and a 46, inv(X),Y karyotype. The patient's mother and maternal aunt also carry the inverted X, and the mother is phenotypically normal, with a 46, inv(X),X karyotype, while a maternal aunt has CAIS with a 46,inv(X),Y karyotype. Molecular cytogenetic studies demonstrate that one of the X inversion breakpoints occurs within Xq11.2-12, which is the locus for the androgen receptor. FISH analysis demonstrated that a BAC clone containing the androgen receptor gene was disrupted by the inversion. We therefore hypothesize that disruption of the androgen receptor gene causes CAIS in this patient. This is the first report of CAIS caused by a chromosome inversion. Copyright 2003 Wiley-Liss, Inc.

  6. A case of spontaneous ovarian hyperstimulation syndrome (sOHSS due to hypothyroidism

    Directory of Open Access Journals (Sweden)

    Tharani Putta

    2016-03-01

    Full Text Available A 15-year-old girl who was previously diagnosed to have primary hypothyroidism presented to the outpatient department in our tertiary care centre in Southern India with abdominal distension and pedal oedema. On evaluation, she was found to have elevated lactate dehydrogenase (LDH and CA 125 levels, enlarged multicystic ovaries, ascites, and pleural and pericardial effusions. A diagnosis of spontaneous ovarian hyperstimulation syndrome (SOHSS was made based on the characteristic soap bubble-like imaging appearance of ovaries in the background of hypothyroidism and she was started on thyroxine. At her three-month follow-up, the patient’s biochemical parameters normalised with reduced ovarian volume and resolution of other imaging findings. SOHSS needs to be considered in patients with hypothyroidism and characteristic multicystic ovarian enlargement.

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

    Directory of Open Access Journals (Sweden)

    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.

  8. Syndrome of Inappropriate Antidiuretic Hormone Secretion Due to Amantadine: 3 Cases in the Literature

    Directory of Open Access Journals (Sweden)

    Akif Acay

    2014-02-01

    Full Text Available To report a patient who developed a syndrome of inappropriate antidiuretic hormone secretion (SIADH related with amantadine. A 62 year-old male, who has been followed for Parkinson%u2019s disease for 16 years. Three months ago, amantadine added to his existing treatment. About 4 weeks after the initiation of treatment, confusion, constant sleepiness, lethargy, asthenia, fatigue and muscle weakness appeared. The blood anlysis showed hyponatremia, so he was diagnosed as SIADH and amantadine treatment was stopped. Then his symptoms gradually improved and the sodium levels was turned into the normal ranges. Amantadine may cause SIADH should be used with caution in patients with Parkinson%u2019s disease.

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

    Science.gov (United States)

    Nanba, Takamasa; Kashimura, Hiroshi; Saura, Hiroaki; Takeda, Masaru

    2016-01-01

    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.

  10. Hypocalcemia and hypokalemia due to hyperventilation syndrome in spinal anesthesia -A case report-.

    Science.gov (United States)

    Moon, Hyun Soo; Lee, Soo Kyung; Chung, Ji Hoon; In, Chi Bum

    2011-12-01

    Hyperventilation syndrome (HVS) often occurs under stressful conditions, and has been reported during or after anesthesia and operation. HVS, characterized by multiple somatic symptoms and electrolyte imbalances induced by inappropriate hyperventilation, should be managed as an emergency. We report a rare case of HVS during spinal anesthesia. The patient was a previously healthy 51-year-old female without psychogenic conditions. During spinal anesthesia for lower extremity surgery, the patient complained of nausea, headache, paresthesia in the upper extremities and perioral numbness. We found carpal spasm in both hands and flattening of T wave on electrocardiogram (ECG). Emergent arterial blood gas analysis (ABGA) revealed markedly decreased PaCO(2), hypocalcemia and hypokalemia. We managed the patient with verbal sedation, electrolytes replacement therapy and closed mask inhalation. HVS subsided gradually. We conclude that monitoring for possible HVS during anesthesia is very important for patient safety.

  11. 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.

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

    Directory of Open Access Journals (Sweden)

    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

  13. Thyrotoxicosis followed by Hypothyroidism due to Suppurative Thyroiditis Caused by Nocardia brasiliensis in a Patient with Advanced Acquired Immunodeficiency Syndrome.

    Science.gov (United States)

    Teckie, G2; Bhana, S A; Tsitsi, J M L; Shires, R

    2014-03-01

    Acute thyroiditis is an extremely rare complication of nocardiosis. We report a patient with hyperthyroidism due to suppurative thyroiditis caused by Nocardia brasiliensis. A 38-year-old Black male presented with features of thyrotoxicosis, sepsis and airway obstruction. He had no evidence of underlying thyroid disease, but was severely immunocompromised as a result of acquired immunodeficiency syndrome. He had previously been diagnosed with pulmonary nocardiosis and also had nocardial abscesses on his anterior chest wall. Investigations revealed thyrotoxicosis, with a FT4 of 43.2 pmol/l and a suppressed TSH Nocardia.

  14. Frequency of Births Due to Assisted Reproductive Technology (ART) in Prader-Willi Syndrome

    Science.gov (United States)

    Gold, June-Anne; Ruth, Chelsey; Osann, Kathryn; Flodman, Pamela; McManus, Barbara; Lee, Hye-Seung; Donkervoort, Sandra; Khare, Manaswitha; Roof, Elizabeth; Dykens, Elizabeth; Driscoll, Daniel J.; Butler, Merlin G.; Heinemann, Janalee; Cassidy, Suzanne; Kimonis, Virginia

    2014-01-01

    Purpose Prader-Willi syndrome (PWS) is an imprinting disorder characterized by typical facial, physical and cognitive/behavioral features, resulting from lack of paternally-expressed genes on chromosome 15q11.2-q13. Studies have suggested an increased risk of other imprinting disorders in children conceived by assisted reproductive techniques (ART). This study was designed to determine the association between ART and PWS. Methods Data on individuals with PWS were collected from three distinct sources and the proportion of ART-births analyzed. Results The proportion of ART-births in the Prader-Willi Syndrome Association [PWSA (USA)], Rare Diseases Clinical Research Network (RDCRN), and University of California, Irvine Medical Center (UCIMC) populations was 1.0% (18/1,736), 1.0% (1/98), and 2.0% (1/50), respectively (overall 1.1%; population frequency for the U.S was 1.0%). Interestingly, 2.4% (45/1,898) of participants were co-twins (eleven born after ART procedures); U.S. twin frequency is 1.6% (p=0.007). The proportion of individuals with maternal disomy 15/imprinting defects born after ART was higher than in the total sample, 55.6% (10/18) and 34.5% (431/1,250), respectively. Conclusion This study found no association between ART and PWS. There was an increased frequency of twinning. The number of individuals with maternal disomy 15/imprinting defect was nearly double in the ART group compared to the total PWS participants. PMID:23928912

  15. Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15.

    Science.gov (United States)

    Ferrer-Bolufer, Irene; Dalmau, Jaime; Quiroga, Ramiro; Oltra, Silvestre; Orellana, Carmen; Monfort, Sandra; Roselló, Mónica; De La Osa, Alberto; Martinez, Francisco

    2009-12-01

    Uniparental isodisomy arises when an individual inherits two copies of a specific chromosome from a single parent, which can unmask a recessive mutation or cause a problem of genetic imprinting. Here we describe an exceptional case in which the patient simultaneously presents tyrosinemia type 1 and Angelman syndrome. The genetic studies showed that the patient presents paternal uniparental isodisomy of chromosome 15, with absence of the maternal homolog. As a consequence of this isodisomy, the patient is homozygous for the mutation IVS12+5G>A in the FAH gene, located in the chromosomal region 15q23-25, causing tyrosinemia type 1. The mutation was inherited from his father in double dosage, whereas the mother is not a carrier, which implies that the recurrence risk in the family is negligible. On the other hand, the lack of maternal contribution causes Angelman syndrome, a neurodevelopmental disorder associated with a loss of maternal gene expression in chromosome region 15q11-q13, and more specifically, of the UBE3A gene. This gene shows a tissue-specific imprinting, and only the maternally derived allele is expressed in certain areas of the brain. We observed through a literature review that uniparental disomy probably occurs more frequently than suspected, although it is more usually detected when the uniparental disomy implies the appearance of a disease because of the gene imprinting or by reduction to homozygosity of a recessive mutation. The conclusion is that uniparental disomy should always be considered when more than one genetic disease mapping to the same chromosome is present in a patient.

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

    National Research Council Canada - National Science Library

    Stoyanova, R G; Harizanova, S N

    2016-01-01

    .... 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...

  17. Lemierre's syndrome due to Klebsiella pneumoniae in a 63-year-old man with diabetes: a case report

    Directory of Open Access Journals (Sweden)

    Garbati Musa A

    2012-04-01

    Full Text Available Abstract Introduction Lemierre's syndrome was originally documented to be caused by Fusobacterium necrophorum. It is a very rare condition with a prevalence of one to 14.4 instances per million. Its presentation is varied, not only in composition but also in the infecting organism. Treatment with anticoagulants has been controversial and applied only on a case-by-case basis. Case presentation A 63-year-old Saudi man who had had uncontrolled diabetes mellitus for 47 years presented to our facility with a five-day history of swelling on the right side of his neck and fever. The swelling progressively increased in size and was associated with pain, dysphagia, odynophagia, change of voice ('hot potato voice', and reduced appetite. Abscess content culture and sensitivity testing revealed Klebsiella pneumoniae. However, blood culture results were repeatedly negative. The abscess was incised and drained without any complication. Our patient was treated with clindamycin and cefuroxime. Warfarin was also administered concurrently for six weeks, for an isolated internal jugular vein thrombosis (IJV, with complete resolution of the thrombus. Normoglycemia was achieved and our patient was discharged after complete wound healing and the return of his biochemical parameters to normal. Conclusions Only two cases of Lemierre's syndrome in patients with diabetes due to K. pneumoniae have been reported previously. A review of the literature suggested that an association exists between deep neck infections due to K. pneumoniae and diabetes mellitus. The reasons for this association are still not clear. This poses a question as to whether diabetes mellitus specifically predisposes these patients to infection with this organism. It is suggested that clinicians should consider infectious agents other than F. necrophorum in the causation of Lemierre's syndrome, especially in patients with diabetes.

  18. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    André V. Lomar

    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.

  1. Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile

    Directory of Open Access Journals (Sweden)

    Jorge A. Bevilacqua

    2017-09-01

    Full Text Available Congenital myasthenic syndromes (CMS are neuromuscular transmission disorders caused by mutations in genes encoding neuromuscular junction proteins. A 61-year-old female and her older sister showed bilateral ptosis, facial and proximal limb weakness, and scoliosis since childhood. Another female sibling had milder signs, while other family members were asymptomatic. Facial nerve repetitive stimulation in the proband showed decrement of muscle responses. Single fiber EMG revealed increased jitter and blocking. Muscle biopsy showed type 2-fiber atrophy, without tubular aggregates. Mutational analysis in the three affected siblings revealed two compound heterozygous mutations in DOK7: c.1457delC, that predicts p.Pro486Argfs*13 and truncates the protein C-terminal domain, and c.473G>A, that predicts p.Arg158Gln and disruption of the dok7-MuSK interaction in the phosphotyrosine binding (PTB domain. Unaffected family members carried only one or neither mutation. Discussion. Two of the affected sisters showed marked improvement with salbutamol treatment, which illustrates the benefits of a correct diagnosis and treatment of DOK7-CMS.

  2. Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy.

    Science.gov (United States)

    Santoro, Stephanie L; Hashimoto, Sayaka; McKinney, Aimee; Mihalic Mosher, Theresa; Pyatt, Robert; Reshmi, Shalini C; Astbury, Caroline; Hickey, Scott E

    2017-01-01

    Maternal uniparental disomy (UPD) 15 is one of the molecular causes of Prader-Willi syndrome (PWS), a multisystem disorder which presents with neonatal hypotonia and feeding difficulty. Current diagnostic algorithms differ regarding the use of SNP microarray to detect PWS. We retrospectively examined the frequency with which SNP microarray could identify regions of homozygosity (ROH) in patients with PWS. We determined that 7/12 (58%) patients with previously confirmed PWS by methylation analysis and microsatellite-positive UPD studies had ROH (>10 Mb) by SNP microarray. Additional assessment of 5,000 clinical microarrays, performed from 2013 to present, determined that only a single case of ROH for chromosome 15 was not caused by an imprinting disorder or identity by descent. We observed that ROH for chromosome 15 is rarely incidental and strongly associated with hypotonic infants having features of PWS. Although UPD microsatellite studies remain essential to definitively establish the presence of UPD, SNP microarray has important utility in the timely diagnostic algorithm for PWS. © 2017 S. Karger AG, Basel.

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

    Directory of Open Access Journals (Sweden)

    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.

  4. 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.

  5. First Reported Patient with Human ERCC1 Deficiency Has Cerebro-Oculo-Facio-Skeletal Syndrome with a Mild Defect in Nucleotide Excision Repair and Severe Developmental Failure

    OpenAIRE

    Jaspers, Nicolaas G.J.; Raams, Anja; Silengo, Margherita Cirillo; Wijgers, Nils; Niedernhofer, Laura J; Robinson, Andria Rasile; Giglia-Mari, Giuseppina; Hoogstraten, Deborah; Kleijer, Wim J.; Hoeijmakers, Jan H.J.; Vermeulen, Wim

    2007-01-01

    Nucleotide excision repair (NER) is a genome caretaker mechanism responsible for removing helix-distorting DNA lesions, most notably ultraviolet photodimers. Inherited defects in NER result in profound photosensitivity and the cancer-prone syndrome xeroderma pigmentosum (XP) or two progeroid syndromes: Cockayne and trichothiodystrophy syndromes. The heterodimer ERCC1-XPF is one of two endonucleases required for NER. Mutations in XPF are associated with mild XP and rarely with progeria. Mutati...

  6. Retinal Disease Course in Usher Syndrome 1B Due to MYO7A Mutations

    Science.gov (United States)

    Jacobson, Samuel G.; Cideciyan, Artur V.; Gibbs, Dan; Sumaroka, Alexander; Roman, Alejandro J.; Aleman, Tomas S.; Schwartz, Sharon B.; Olivares, Melani B.; Russell, Robert C.; Steinberg, Janet D.; Kenna, Margaret A.; Kimberling, William J.; Rehm, Heidi L.; Williams, David S.

    2011-01-01

    Purpose. To determine the disease course in Usher syndrome type IB (USH1B) caused by myosin 7A (MYO7A) gene mutations. Methods. USH1B patients (n = 33, ages 2–61) representing 25 different families were studied by ocular examination, kinetic and chromatic static perimetry, dark adaptometry, and optical coherence tomography (OCT). Consequences of the mutant alleles were predicted. Results. All MYO7A patients had severely abnormal ERGs, but kinetic fields revealed regional patterns of visual loss that suggested a disease sequence. Rod-mediated vision could be lost to different degrees in the first decades of life. Cone vision followed a more predictable and slower decline. Central vision ranged from normal to reduced in the first four decades of life and thereafter was severely abnormal. Dark adaptation kinetics was normal. Photoreceptor layer thickness in a wide region of central retina could differ dramatically between patients of comparable ages; and there were examples of severe losses in childhood as well as relative preservation in patients in the third decade of life. Comparisons were made between the mutant alleles in mild versus more severe phenotypes. Conclusions. A disease sequence in USH1B leads from generally full but impaired visual fields to residual small central islands. At most disease stages, there was preserved temporal peripheral field, a potential target for early phase clinical trials of gene therapy. From data comparing patients' rod disease in this cohort, the authors speculate that null MYO7A alleles could be associated with milder dysfunction and fewer photoreceptor structural losses at ages when other genotypes show more severe phenotypes. PMID:21873662

  7. Adolescent polycystic ovary syndrome due to functional ovarian hyperandrogenism persists into adulthood.

    Science.gov (United States)

    Rosenfield, Robert L; Ehrmann, David A; Littlejohn, Elizabeth E

    2015-04-01

    Menstrual irregularity and above-average testosterone levels in adolescence may presage polycystic ovary syndrome (PCOS) in adulthood but persist in only a minority. Prolonged anovulatory cycles in normal adolescents are associated with increased testosterone levels. Thus, questions have been raised about the accuracy of PCOS diagnosed in adolescents. The purpose of this study was to follow-up hyperandrogenic adolescents with features of PCOS to test the hypothesis that adolescent functional ovarian hyperandrogenism (FOH) persists into adulthood. A series of adults previously reported to have adolescent PCOS, with most documented to have FOH by GnRH agonist or dexamethasone androgen-suppression test criteria, were recalled. Recall occurred >3 years after the initial diagnosis and at the age of >18.0 years. Respondents underwent examination, baseline androgen evaluation, and an oral glucose tolerance test after discontinuing oral contraceptive therapy. Of the adolescent hyperandrogenic patients, 68% (15 of 22) were traceable, and 60% of those traced returned for follow-up, including half (n = 8) of the original FOH group. The baseline characteristics of respondents and nonrespondents were not significantly different. Patients with FOH were reevaluated when their mean age was 23.0 years (range, 18.4-29.4 years), gynecologic age was 10.7 years (range, 5.5-18.4 years), and body mass index was 42.3 kg/m(2) (range, 28.3-52.1 kg/m(2); P = .02 vs adolescence). Serum free testosterone was 24 pg/mL (range, 10-38 pg/mL, normal, 3-9 pg/mL; not significant vs adolescence); all were oligomenorrheic. Whereas 3 of 8 had impaired glucose tolerance as adolescents, at follow-up 6 of 8 had developed abnormal glucose tolerance (2 with type 2 diabetes mellitus). Adolescents with FOH, which underlies most PCOS, uniformly have persistent hyperandrogenism, and glucose tolerance tends to deteriorate. Testing ovarian androgenic function in hyperandrogenic adolescents may be of prognostic

  8. 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.

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

    Directory of Open Access Journals (Sweden)

    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. Mortality and morbidity due to gastric dilatation-volvulus syndrome in pedigree dogs in the UK.

    Science.gov (United States)

    Evans, Katy M; Adams, Vicki J

    2010-07-01

    To estimate breed-specific risk of death due to, and prevalence of, gastric dilatation-volvulus (GDV) in UK pedigree dogs. Data were available on the reported cause of and age at death and occurrence of and age at diagnosis of disease from the 2004 purebred dog health survey. A total of 15,881 dogs of 165 breeds had died in the previous 10 years; GDV was the cause of death in 65 breeds. There were 36,006 live dogs of 169 breeds of which 48 breeds had experienced > or =1 episodes of GDV. Prevalence ratios were used to estimate breed-specific GDV mortality and morbidity risks. Gastric dilatation-volvulus was the cause of death for 389 dogs, representing 2.5% (95% CI: 2.2-2.7) of all deaths reported and the median age at death was 7.92 years. There were 253 episodes in 238 live dogs. The median age at first diagnosis was five years. Breeds at greatest risk of GDV mortality were the bloodhound, Grand Bleu de Gascogne, German longhaired pointer and Neapolitan mastiff. Breeds at greatest risk of GDV morbidity were the Grand Bleu de Gascogne, bloodhound, otterhound, Irish setter and Weimaraner. These results suggest that 16 breeds, mainly large/giant, are at increased risk of morbidity/mortality due to GDV.

  12. Immortalization of Werner syndrome and progeria fibroblasts

    Energy Technology Data Exchange (ETDEWEB)

    Saito, H.; Moses, R.E. (Baylor College of Medicine, Houston, TX (USA))

    1991-02-01

    Human fibroblast cells from two different progeroid syndromes, Werner syndrome (WS) and progeria, were established as immortalized cell lines by transfection with plasmid DNA containing the SV40 early region. The lineage of each immortalized cell line was confirmed by VNTR analysis. Each of the immortalized cell lines maintained its original phenotype of slow growth. DNA repair ability of these cells was also studied by measuring sensitivity to killing by uv or the DNA-damaging drugs methyl methansulfonate, bleomycin, and cis-dichlorodiamine platinum. The results showed that both WS and progeria cells have normal sensitivity to these agents.

  13. Changes in heparan sulfate are associated with delayed wound repair, altered cell migration, adhesion and contractility in the galactosyltransferase I (beta4GalT-7) deficient form of Ehlers-Danlos syndrome.

    NARCIS (Netherlands)

    Gotte, M.; Spillmann, D.; Yip, G.W.; Versteeg, E.M.M.; Echtermeyer, F.G.; Kuppevelt, A.H.M.S.M. van; Kiesel, L.

    2008-01-01

    Reduced activity of beta4-galactosyltransferase 7 (beta4GalT-7), an enzyme involved in synthesizing the glycosaminoglycan linkage region of proteoglycans, is associated with the progeroid form of Ehlers-Danlos syndrome (EDS). In the invertebrates Drosophila melanogaster and Caenorhabditis elegans,

  14. Beckwith-Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a "de novo" pericentric inversion of chromosome Y.

    Science.gov (United States)

    Delicado, Alicia; Lapunzina, Pablo; Palomares, María; Molina, Maria Antonia; Galán, Enrique; López Pajares, Isidora

    2005-01-01

    We report on an infant who had been prenatally diagnosed with Klinefelter syndrome associated with a "de novo" pericentric inversion of the Y chromosome. A re-evaluation at 3 years of age suggested that he was also affected by Beckwith-Wiedemann syndrome (BWS). Karyotype was repeated and fluorescence in situ hybridisation (FISH) analysis revealed trisomy for 11p15.5-->11pter and a distal monosomy 18q (18q23-->qter). Parental cytogenetic studies showed that the father carried a balanced cryptic translocation between chromosomes 11p and 18q. Furthermore, the child had an extra X chromosome and a "de novo" structural abnormality of chromosome Y. Thus, his karyotype was 47,XX, inv (Y) (p11.2 q11.23), der(18) t (11;18) (p15.5;q23) pat. ish der(18) (D11S2071+, D18S1390-). Two markers on the X chromosome showed that the extra X of the child was paternally inherited. No deletions were observed on the structurally abnormal Y chromosome from any of the microsatellites studied. Clinical findings of patients with BWS due to partial trisomy 11p reveal that there is a distinct pattern of dysmorphic features associated with an increased incidence of mental retardation when comparing patients with normal chromosomes. This fact reinforces that FISH study have to be performed in all BWS patients, specially in those with mental retardation since small rearrangements cannot be detected by conventional cytogenetic techniques.

  15. Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene

    Science.gov (United States)

    Uusimaa, Johanna; Evans, Julie; Smith, Conrad; Butterworth, Anna; Craig, Kate; Ashley, Neil; Liao, Chunyan; Carver, Janet; Diot, Alan; Macleod, Lorna; Hargreaves, Iain; Al-Hussaini, Abdulrahman; Faqeih, Eissa; Asery, Ali; Al Balwi, Mohammed; Eyaid, Wafaa; Al-Sunaid, Areej; Kelly, Deirdre; van Mourik, Indra; Ball, Sarah; Jarvis, Joanna; Mulay, Arundhati; Hadzic, Nedim; Samyn, Marianne; Baker, Alastair; Rahman, Shamima; Stewart, Helen; Morris, Andrew AM; Seller, Anneke; Fratter, Carl; Taylor, Robert W; Poulton, Joanna

    2014-01-01

    Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are severe autosomal recessive disorders associated with decreased mtDNA copy number in clinically affected tissues. The hepatocerebral form (mtDNA depletion in liver and brain) has been associated with mutations in the POLG, PEO1 (Twinkle), DGUOK and MPV17 genes, the latter encoding a mitochondrial inner membrane protein of unknown function. The aims of this study were to clarify further the clinical, biochemical, cellular and molecular genetic features associated with MDS due to MPV17 gene mutations. We identified 12 pathogenic mutations in the MPV17 gene, of which 11 are novel, in 17 patients from 12 families. All patients manifested liver disease. Poor feeding, hypoglycaemia, raised serum lactate, hypotonia and faltering growth were common presenting features. mtDNA depletion in liver was demonstrated in all seven cases where liver tissue was available. Mosaic mtDNA depletion was found in primary fibroblasts by PicoGreen staining. These results confirm that MPV17 mutations are an important cause of hepatocerebral mtDNA depletion syndrome, and provide the first demonstration of mosaic mtDNA depletion in human MPV17 mutant fibroblast cultures. We found that a severe clinical phenotype was associated with profound tissue-specific mtDNA depletion in liver, and, in some cases, mosaic mtDNA depletion in fibroblasts. PMID:23714749

  16. Callosal disconnection syndrome in a left-handed patient due to infarction of the total length of the corpus callosum.

    Science.gov (United States)

    Lausberg, H; Göttert, R; Münssinger, U; Boegner, F; Marx, P

    1999-03-01

    We report on a left-handed patient with an ischemic infarction affecting exclusively the total length of the corpus callosum. This lesion clinically correlated with an almost complete callosal disconnection syndrome as described in callosotomy subjects, including unilateral verbal anosmia, hemialexia, unilateral ideomotor apraxia, unilateral agraphia, unilateral tactile anomia, unilateral constructional apraxia, lack of somesthetic transfer and dissociative phenomena. Despite the patient's left-handedness, his pattern of deficits was similar to the disconnection syndrome found in right-handers. Our report focusses on motor dominance and praxis. We followed-up the improvement in left apraxia and investigated the ability to initiate and learn a new visuo-motor skill. The results permit two tentative assumptions: (1) that the improvement in left apraxia was due to a compensatory increase in ipsilateral proximal muscle control, and (2) that motor dominance, i.e. the competence to initiate and learn a new movement pattern, was hemispherically dissociable from manual dominance in the sense of praxis control.

  17. 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.

  18. 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.

  19. Multiple macroregenerative nodules in liver cirrhosis due to Budd-Chiari syndrome. Case reports and review of the literature.

    Science.gov (United States)

    Zhou, H; Wolff, M; Pauleit, D; Fischer, H P; Pfeifer, U

    2000-01-01

    Clinical, radiological, histological and immunohistochemical methods were used to define the nature of multiple rapidly growing hepatic nodules in 2 young patients with Budd-Chiari syndrome due to myeloproliferative diseases. In one patient, the arterial hyperperfusion of large nodules was demonstrated by dynamic computed tomography and angiography. The explanted livers of these patients showed multiple well-demarcated nodules up to 3 cm in diameter on the background of liver cirrhosis resulting from chronic hepatic congestion. Histologically, these nodules covered a spectrum ranging from adenoma-like lesions to nodules resembling focal nodular hyperplasia. They consisted of essentially normal hepatocytes, and variably contained fibrous septa including neoductules and large, mostly dysmorphic arteries. Sometimes, they were located close to still patent or recanalized veins. These rapidly growing hepatic nodules are best defined as macroregenerative nodules. The knowledge of this entity may help the physician to avoid misinterpretation of such nodules as carcinomas.

  20. ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.

    Science.gov (United States)

    Izumi, Kosuke; Brett, Maggie; Nishi, Eriko; Drunat, Séverine; Tan, Ee-Shien; Fujiki, Katsunori; Lebon, Sophie; Cham, Breana; Masuda, Koji; Arakawa, Michiko; Jacquinet, Adeline; Yamazumi, Yusuke; Chen, Shu-Ting; Verloes, Alain; Okada, Yuki; Katou, Yuki; Nakamura, Tomohiko; Akiyama, Tetsu; Gressens, Pierre; Foo, Roger; Passemard, Sandrine; Tan, Ene-Choo; El Ghouzzi, Vincent; Shirahige, Katsuhiko

    2016-08-04

    Cellular homeostasis is maintained by the highly organized cooperation of intracellular trafficking systems, including COPI, COPII, and clathrin complexes. COPI is a coatomer protein complex responsible for intracellular protein transport between the endoplasmic reticulum and the Golgi apparatus. The importance of such intracellular transport mechanisms is underscored by the various disorders, including skeletal disorders such as cranio-lenticulo-sutural dysplasia and osteogenesis imperfect, caused by mutations in the COPII coatomer complex. In this article, we report a clinically recognizable craniofacial disorder characterized by facial dysmorphisms, severe micrognathia, rhizomelic shortening, microcephalic dwarfism, and mild developmental delay due to loss-of-function heterozygous mutations in ARCN1, which encodes the coatomer subunit delta of COPI. ARCN1 mutant cell lines were revealed to have endoplasmic reticulum stress, suggesting the involvement of ER stress response in the pathogenesis of this disorder. Given that ARCN1 deficiency causes defective type I collagen transport, reduction of collagen secretion represents the likely mechanism underlying the skeletal phenotype that characterizes this condition. Our findings demonstrate the importance of COPI-mediated transport in human development, including skeletogenesis and brain growth. Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  1. Mandibular Osteonecrosis due to the Pulpal-Periodontal Syndrome: a Case Report and Review of the Literature

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    Sven Seiwerth

    2017-01-01

    Full Text Available Objective: Ishemic bone disease has multifactorial etiologies. Cronic dental infections should be eliminated to prevent osteonecrosis of the jaw. Case report: We report an unusual case of osteonecrosis due to the pulpal-peridontal syndrome and subsequent pulp necrosis. A case of 38 year old woman who presented with exposed bone, 8 mm in diameter, in the lingual area of the right lower third molar. The patient was otherwise healthy and was not taking any medications. A detailed medical history showed no previous diseases. Patient denied any type of local trauma. A complete blood count showed no abnormalities. The panoramic radiograph revealed a deep periodontal pocket between teeth 47 and 48. The CBCT revealed a deep periodontal pocket between molars and bone sequestrum of the lingual plate. Topical treatment consisted of adhesive periodontal dressing based on the cellulose and betamethasone oitnment together with orabase, without improvement. Therefore, peroral amoxycillin was prescribed for a week. Since there was no improvement, the third molar was removed as well as necrotic bone; the alveolar bone was remodelled and utures were placed. After suturing, the whole area was covered using intraoral resorbable bandage. Microbial swab of the wound aspirate did not reveal polymorphonuclears or the presence of icroorganisms. Microbial swab of the biopsy specimen of the necrotic bone particle and sequestrum showed a large amount of gram-positive coccae, however, polymorphonuclears were not found. Histopathological analysis revealed acute chronic inflammation. One week after the surgery, the area healed completely. Conclusion: This case highlights the fact that in some patients bone exposure might develop due to the pulpal-peridontal syndrome i.e. pulp necrosis.

  2. Mandibular Osteonecrosis due to the Pulpal-Periodontal Syndrome: a Case Report and Review of the Literature.

    Science.gov (United States)

    Gabrić, Dragana; Seiwerth, Sven; Baraba, Anja; Vučićević, Vanja; Boras

    2017-03-01

    Ishemic bone disease has multifactorial etiologies. Cronic dental infections should be eliminated to prevent osteonecrosis of the jaw. We report an unusual case of osteonecrosis due to the pulpal-peridontal syndrome and subsequent pulp necrosis. A case of 38 year old woman who presented with exposed bone, 8 mm in diameter, in the lingual area of the right lower third molar. The patient was otherwise healthy and was not taking any medications. A detailed medical history showed no previous diseases. Patient denied any type of local trauma. A complete blood count showed no abnormalities. The panoramic radiograph revealed a deep periodontal pocket between teeth 47 and 48. The CBCT revealed a deep periodontal pocket between molars and bone sequestrum of the lingual plate. Topical treatment consisted of adhesive periodontal dressing based on the cellulose and bethamethasone oitnment together with orabase, without improvement. Therefore, peroral amoxycillin was prescribed for a week. Since there was no improvement, the third molar was removed as well as necrotic bone; the alveolar bone was remodelled and sutures were placed. After suturing, the whole area was covered using intraoral resorbable bandage. Microbial swab of the wound aspirate did not reveal polymorphonuclears or the presence of microorganisms. Microbial swab of the biopsy specimen of the necrotic bone particle and sequestrum showed a large amount of gram-positive coccae, however, polymorphonuclears were not found. Histopathological analysis revealed acute chronic inflammation. One week after the surgery, the area healed completely. This case highlights the fact that in some patients bone exposure might develop due to the pulpal-periodontal syndrome i.e. pulp necrosis.

  3. 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....

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

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    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.

  5. Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene.

    Science.gov (United States)

    Ververi, Athina; Islam, Lily; Bewes, Beverley; Busby, Louise; Sullivan, Caroline; Canham, Natalie

    2017-01-01

    Angelman syndrome (AS) is characterised by developmental delay, lack of speech, seizures, a characteristic behavioural profile with a happy demeanour, microcephaly, and ataxia. More than two-thirds of cases are due to an approximately 5-Mb interstitial deletion of the imprinted region 15q11.2q13, which is usually de novo. The rest are associated with point mutations in the UBE3A gene, imprinting defects, and paternal uniparental disomy. Small intragenic UBE3A deletions have rarely been described. They are usually maternally inherited, increasing the recurrence risk to 50%, and may be missed by conventional testing (methylation studies and UBE3A gene sequencing). We describe a boy with AS due to an 11.7-kb intragenic deletion. The deletion was identified by array-CGH and was subsequently detected in his affected first cousin and unaffected maternal grandfather, mother, and aunt, confirming the silencing of the paternal allele. The patient had developmental delay, speech impairment, a happy demeanour, microcephaly, and an abnormal EEG, but no seizures by the age of 4 years. Delineation of the underlying genetic mechanism is of utmost importance for reasons of genetic counselling, as well as appropriate management and prognosis. Alternative techniques, such as array-CGH and MLPA, are necessary when conventional testing for AS has failed to identify the underlying genetic mechanism. © 2017 S. Karger AG, Basel.

  6. Budd-Chiari syndrome due to prothrombotic disorder: mid-term patency and efficacy of endovascular stents

    Energy Technology Data Exchange (ETDEWEB)

    Pelage, Jean-Pierre; Denys, Alban; Sibert, Annie; Menu, Yves [Department of Radiology, Hopital Beaujon, AP-HP, 100 Boulevard du General Leclerc, 92110 Clichy (France); Valla, Dominique [Department of Hepatology, Hopital Beaujon, AP-HP, 100 Boulevard du General Leclerc, 92110 Clichy (France); Sauvanet, Alain; Belghiti, Jacques [Department of Surgery, Hopital Beaujon, AP-HP, 100 Boulevard du General Leclerc, 92110 Clichy (France)

    2003-02-01

    Our objective was to evaluate efficacy and patency of metallic stent placement for symptomatic Budd-Chiari syndrome (BCS) due to prothrombotic disorders. Eleven patients with proved BCS due to prothrombotic disorders were referred for endovascular treatment because of refractory ascites (n=9), abdominal pain (n=8), jaundice (n=6), and/or gastrointestinal bleeding (n=4). Stents were inserted for stenosed hepatic vein (n=7), inferior vena cava (n=2), or mesenterico-caval shunt (n=2). Clinical efficacy and stent patency was evaluated by clinical and Doppler follow-up. After a mean follow-up of 21 months, 6 patients had fully patent stents without reintervention (primary stent patency: 55%). Two patients with hepatic vein stenosis had stent thrombosis and died 4 months after procedure. Restenosis occurred in 3 cases (2 hepatic vein and 1 mesenterico-caval shunt stenosis) and were successfully treated by balloon angioplasty (n=2) and addition of new stents (n=1) leading to a 82% secondary stent patency. Of 9 patients with patent stent, 7 were asymptomatic (77%) at the end of the study. Stent placement is a safe and effective procedure to control of symptomatic BCS. Prothrombotic disorder does not seem to jeopardize patency in anticoagulated patients. (orig.)

  7. Effects of antipyretics on mortality due to influenza B virus in a mouse model of Reye's syndrome.

    Science.gov (United States)

    Crocker, J F; Digout, S C; Lee, S H; Rozee, K R; Renton, K; Field, C A; Acott, P; Murphy, M G

    1998-01-01

    To determine the effects of acetylsalicylic acid (ASA) and acetaminophen on mortality due to influenza B infection in neonatal and weanling mice, as well as any synergistic, antagonistic or indifferent effects of the combined antipyretic and virus on mortality in mice pretreated with low doses of an industrial surfactant, Toximul MP8, which has been shown to reproduce many of the features of Reye's syndrome. In vitro studies were done to determine whether ASA or acetaminophen altered the normal, interferon-mediated antiviral responses of mammalian cells. The involvement of ASA or other commonly used xenobiotics in the induction of Reye's syndrome following virus illness has not been resolved; to do so, and to elucidate the underlying metabolic mechanism, requires these studies in an animal model. Prospective animal study. Newborn (945) and weanling (840) Swiss white mice, divided into 12 subgroups. Some groups received Toximul MP8 before inoculation with a dose of mouse-adapted human influenza B that produces 30% mortality (LD30); after infection, each subgroup received either placebo, ASA or acetaminophen. Mortality counts were taken daily. The in vitro effects of the antipyretics on interferon response were determined using standard virology techniques. Mortality, analyzed by survival curves (log rank test) or cumulative daily mortality (chi 2 analysis). Plaque-reducing dose (PRD50) was used to determine the outcome of the in vitro analyses. In neonatal mice, only subgroups given combined treatment with acetaminophen and Toximul MP8 had a statistically significant higher mortality rate than with the mice given influenza B alone. In weanling mice, it appeared that ASA shortened the time until death; however, this difference was not statistically significant. In vitro studies demonstrated that both ASA and acetaminophen decreased the interferon-induced antiviral responses of cultured mammalian cells. Antipyretics have the potential to exacerbate the consequences of

  8. Iatrogenic Cushing's syndrome due to coadministration of ritonavir and inhaled budesonide in an asthmatic human immunodeficiency virus infected patient.

    Science.gov (United States)

    Kedem, Eynat; Shahar, Eduardo; Hassoun, Gamal; Pollack, Shimon

    2010-09-01

    Iatrogenic Cushing's syndrome (CS) is caused by exposure to glucocorticoids and may be promoted by interaction with additional drugs. It is well known in asthmatic human immunodeficiency virus (HIV)-infected patients treated with inhaled fluticasone with ritonavir-containing antiretroviral regimen (cART). The authors present an asthmatic HIV-infected Ethiopian woman, treated with fluticasone/salmeterol, commencing cART with tenofovir, emtricitabine, and lopinavir/ritonavir. During 7 months she gained 9 kg and hyperpigmentation, mild edema, marked abdominal striae, and increase in blood pressure were noted. Plasma am and urine free cortisol levels confirmed CS diagnosis and fluticasone was discontinued. Complete resolution of CS occurred within 2 months. However, frequent asthma symptoms required resumption of inhaled corticosteroid (ICS) treatment, and budesonide/formeterol was prescribed. Soon reemergence of symptomatic CS was noted. Ritonavir dose was halved, but CS symptoms continued to develop. Budesonide was stopped and montelukast initiated. Resolution of cushingoid symptoms was observed within weeks. Corticosteroids are metabolized by cytochrome P450 3A4 (CYP3A4). Fluticasone has the longest glucocorticoid receptor-binding half-life and is 300 times more lipophilic than budesonide. Inhaled fluticasone possesses a high suppression rate of hypothalamic-pituitary-adrenal axis. Ritonavir, a potent CYP3A4 inhibitor, may inhibit corticosteroid degradation and increase its accumulation. Inhaled budesonide is less likely to cause adrenal suppression. Diagnosing Cushing's syndrome presents a clinical challenge due to similarities with clinical manifestations and side effects related to cART. In patients treated with inhaled or intranasal corticosteroids together with cART there may be a higher incidence of iatrogenic CS. CS should be looked for, and management considered carefully.

  9. Inherited 5p deletion syndrome due to paternal balanced translocation: Phenotypic heterogeneity due to duplication of 8q and 12p.

    Science.gov (United States)

    Sharma, Pankaj; Gupta, Neerja; Chowdhury, Madhumita R; Sapra, Savita; Shukla, Rashmi; Lall, Meena; Kabra, Madhulika

    2013-09-01

    5p deletion syndrome or Cri du Chat syndrome is a autosomal deletion syndrome, caused by the de novo deletion of chromosome 5p in the majority of the cases. Clinical features include developmental delay, microcephaly, subtle facial dysmorphism and high-pitched cry. With the advent of newer techniques such as multiplex ligation-dependent probe amplification, rapid diagnosis is possible and chromosomal microarray helps in accurate delineation of the breakpoints. In this study, we characterized probands from two Indian families who had duplication of another chromosome in addition to deletion of 5p region. In the first family, two females of 3 and 5 yr of age had deletion of 5p15.33p15.2 (14.7 Mb) and duplication of 8q24.21q24.3 (15.4 Mb). Proband in the second family was a 2-year-old female and had deletion of 5p15.33p14.3 (22.55 Mb) along with duplication of 12p13.33p13.31 (7.7 Mb). In both the families, father was balanced translocation carrier of the chromosomes involved. Patients in family 1 had overwhelming features of 5p deletion while patient in family 2, besides having features of 5p deletion, showed many features of 12p duplications. Prenatal diagnosis was possible in both the families. To the best of our knowledge, this is the first detailed molecular cytogenetic analysis and prenatal diagnosis report of 5p deletion syndrome from India.

  10. Severe Cushing’s syndrome due to small cell prostate carcinoma: a case and review of literature

    Directory of Open Access Journals (Sweden)

    M S Elston

    2017-07-01

    Full Text Available Cushing’s syndrome (CS due to ectopic adrenocorticotrophic hormone (ACTH is associated with a variety of tumours most of which arise in the thorax or abdomen. Prostate carcinoma is a rare but important cause of rapidly progressive CS. To report a case of severe CS due to ACTH production from prostate neuroendocrine carcinoma and summarise previous published cases. A 71-year-old male presented with profound hypokalaemia, oedema and new onset hypertension. The patient reported two weeks of weight gain, muscle weakness, labile mood and insomnia. CS due to ectopic ACTH production was confirmed with failure to suppress cortisol levels following low- and high-dose dexamethasone suppression tests in the presence of a markedly elevated ACTH and a normal pituitary MRI. Computed tomography demonstrated an enlarged prostate with features of malignancy, confirmed by MRI. Subsequent prostatic biopsy confirmed neuroendocrine carcinoma of small cell type and conventional adenocarcinoma of the prostate. Adrenal steroidogenesis blockade was commenced using ketoconazole and metyrapone. Complete biochemical control of CS and evidence of disease regression on imaging occurred after four cycles of chemotherapy with carboplatin and etoposide. By the sixth cycle, the patient demonstrated radiological progression followed by recurrence of CS and died nine months after initial presentation. Prostate neuroendocrine carcinoma is a rare cause of CS that can be rapidly fatal, and early aggressive treatment of the CS is important. In CS where the cause of EAS is unable to be identified, a pelvic source should be considered and imaging of the pelvis carefully reviewed.

  11. Cushing's syndrome with adrenal suppression induced by inhaled budesonide due to a ritonavir drug interaction in a woman with HIV infection.

    Science.gov (United States)

    Yoganathan, K; David, L; Williams, C; Jones, K

    2012-07-01

    A 48-year-old woman with HIV infection developed Cushingoid features while she was taking ritonavir-boosted darunavir. Cushing's syndrome was confirmed due to the drug interaction between ritonavir and budesonide. Diagnosis of iatrogenic Cushing's syndrome in HIV-positive patients who are on ritonavir-boosted protease inhibitors (PIs) presents a clinical challenge due to similar clinical features of lipohypertrophy related to ritonavir-boosted PIs. Although this complication has been widely described with the use of inhaled fluticasone, the interaction with inhaled budesonide at therapeutic dose is not widely recognized.

  12. Traumatic brain injury is unlikely precipitating Leigh syndrome due to the GJB2 mutation c.35delG

    Directory of Open Access Journals (Sweden)

    Josef Finsterer

    2017-06-01

    Full Text Available With interest we read the article by Ashrafi et al. about a 14-year-old female who is regarded to have developed Leigh syndrome (LS after traumatic brain injury (TBI. We have the following comments and concerns:We do not agree with the notion that traumatic brain injury was the precipitating factor for LS. The patient had a history of hypoacusis, which is a typical clinical manifestation of a mitochondrial disorder (MID. Hypoacusis obviously had developed long before the TBI. Additionally, the patient was diagnosed with neuropathy of the peripheral nerves two months after TBI. It is rather unlikely that neuropathy was triggered by TBI and more likely it was already present before the trauma. Thus, the initial manifestations of LS in the presented patient were most likely hypoacusis followed by neuropathy and TBI only might have triggered the seizure but not the MID. Why was the patient put on phenytoin, which is well-known to be mitochondrion-toxic? Phenytoin may worsen epilepsy and MID in general and it is conceivable that in fact phenytoin was responsible for worsening of the phenotype and not the TBI. In a 16-year-old female with MELAS syndrome due to the mutation m.3243A>G, phenytoin caused intestinal pseudo-obstruction one month after intravenous phenytoin for status epilepticus. In a patient with Kearns-Sayre syndrome phenytoin decreased cerebrospinal fluid (CSF folate levels. In rat hepatocytes, phenytoin increased reactive oxygen species (ROS formation, decreased intracellular reduced glutathione, increased intracellular oxidised glutathione, and enhanced lipid peroxidation and mitochondrial damage. In a hepatic microsomal system, phenytoin decreased state-3 respiration, ATP synthesis, and the mitochondrial membrane potential. In this model, phenytoin increased state-4 respiration, impaired Ca++-uptake and release, and inhibited Ca++-induced swelling. It would be interesting to know how the GJB2 mutation was detected. Was whole exome or

  13. 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.

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

    Science.gov (United States)

    Ukaigwe, Anene; Karmacharya, Paras; Donato, Anthony

    2014-01-01

    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.

  15. Evolution of Choroidal Neovascularization due to Presumed Ocular Histoplasmosis Syndrome on Multimodal Imaging including Optical Coherence Tomography Angiography

    Directory of Open Access Journals (Sweden)

    T. Y. Alvin Liu

    2018-01-01

    Full Text Available A 37-year-old Caucasian woman presented with acute decrease in central vision in her right eye and was found to have subfoveal choroidal neovascularization (CNV due to presumed ocular histoplasmosis syndrome (POHS. Her visual acuity improved from 20/70 to 20/20 at her 6-month follow-up, after 3 consecutive monthly intravitreal bevacizumab injections were initiated at her first visit. Although no CNV activity was seen on fluorescein angiography (FA or spectral-domain optical coherence tomography (SD-OCT at her 2-month, 4-month, and 6-month follow-up visits, persistent flow in the CNV lesion was detected on optical coherence tomography angiography (OCTA. OCTA shows persistent vascular flow as well as changes in vascular flow in CNV lesions associated with POHS, indicating the continued presence of patent vessels and changes in these CNV lesions, even when traditional imaging of the lesion with OCT and FA indicates stability of the lesion with no disease activity. Additional cases with longitudinal follow-up are needed to assess how OCTA should be incorporated into clinical practice.

  16. 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.

  17. Charles Bonnet Syndrome: successful treatment of visual hallucinations due to vision loss with selective serotonin reuptake inhibitors.

    Science.gov (United States)

    Lang, Undine E; Stogowski, Dariusz; Schulze, Doreen; Domula, Markus; Schmidt, Eckart; Gallinat, Jüergen; Tugtekin, Sems Malte; Felber, Werner

    2007-07-01

    Visual hallucinations are a common and often distressing consequence of vision loss, particularly in age-related macular degeneration. Charles Bonnet Syndrome (CBS) is defined by the triad of complex visual hallucinations, ocular pathology causing visual deterioration and preserved cognitive status. So far, although this condition is frequent, no established treatment for CBS has been stated. We report here the case of a 78-year-old woman, who came in our hospital because of a 4-week long mild depressive symptomatology. For 1 year she experienced daily sudden, unexpected, vivid and elaborate hallucinations. Insight was completely present, so the patient stated that the hallucinations were unreal and that the faces, geometrical figures and animals she saw every day were possibly due to her vision loss. The Mini Mental State Examination, digit span and verbal fluency were administered and no cognitive impairment was reported. The visual acuity was hand motion. After 4 days of treatment with venlafaxine the hallucinations completely disappeared. This is the first case to show that selective serotonin (and noradrenalin) reuptake inhibitors may be an effective and well-tolerated treatment for visual hallucinations associated with vision loss, and it adds to evidence implicating serotonergic pathways in the pathogenesis of visual hallucinations.

  18. Is the decreased high-density lipoprotein cholesterol in the metabolic syndrome due to cellular lipid efflux defect?

    Science.gov (United States)

    Alenezi, Mohammad Y; Marcil, Michel; Blank, David; Sherman, Mark; Genest, Jacques

    2004-02-01

    The metabolic syndrome (MS) is associated with cardiovascular disease. The low high-density lipoprotein cholesterol (HDL-C) seen in the MS is associated with increased hepatic secretion of apolipoprotein B-containing lipoproteins. Patients with low HDL-C and abnormal cellular lipid efflux due to ABCA1 gene defects (Tangier disease) also have elevated plasma triglycerides. In the present study, we examined the cellular cholesterol and phospholipid efflux in patients with low HDL-C and features of the MS. Forty-four patients with a HDL-C below the fifth percentile for age and gender were selected. The MS was defined by a low HDL-C and at least two additional features: body mass index at least 30 kg/m(2), plasma triglycerides at least 150 mg/dl, fasting glucose at least 110 mg/dl, and blood pressure at least 130/85 mm Hg. Cellular lipid efflux was examined on fibroblasts obtained from study subjects, nine normal controls and six subjects with Tangier disease. In 22 patients identified with the MS, HDL-C was 21 +/- 7 mg/dl, triglyceride levels were 340 +/- 157 mg/dl, and cellular cholesterol and phospholipid efflux were 107 +/- 18% and 105 +/- 17% of controls, respectively. No patient with the MS and low HDL-C showed a cellular lipid efflux defect. We conclude that primary cellular lipid efflux defects do not contribute to the low HDL-C frequently encountered in the MS.

  19. 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.

  20. A case of streptococcal toxic shock syndrome due to Group G streptococci identified as Streptococcus dysgalactiae subsp. equisimilis.

    Science.gov (United States)

    Nei, Takahito; Akutsu, Koichi; Shima, Ayaka; Tsuboi, Ippei; Suzuki, Hiroomi; Yamamoto, Takeshi; Tanaka, Keiji; Shinoyama, Akihiro; Kojima, Yoshiko; Washio, Yohei; Okawa, Sakina; Sonobe, Kazunari; Norose, Yoshihiko; Saito, Ryoichi

    2012-12-01

    A 79-year-old man with a 3-month history of lymphedema of the lower limbs, and diabetes mellitus, was admitted to our hospital for suspected deep venous thrombosis. Several hours after admission, leg pain and purpura-like skin color appeared. On the 2nd hospital day, he was referred to our department for possible acute occlusive peripheral artery disease (PAD) and skin necrosis with blisters; however, computed tomography with contrast showed no occlusive lesions. He had already developed shock and necrotizing deep soft-tissue infections of the left lower leg. Laboratory findings revealed renal dysfunction and coagulation system collapse. Soon after PAD was ruled out, clinical findings suggested necrotizing deep soft-tissue infections, shock state, disseminated intravascular coagulation, and multiple organ failure. These symptoms led to a high suspicion of the well-recognized streptococcal toxic shock syndrome (STSS). With a high suspicion of STSS, we detected Group G β-hemolytic streptococci (GGS) from samples aspirated from the leg bullae, and the species was identified as Streptococcus dysgalactiae subsp. equisimilis (SDSE) by 16S-ribosomal RNA sequencing. However, unfortunately, surgical debridement was impossible due to the broad area of skin change. Despite adequate antimicrobial therapy and intensive care, the patient died on the 3rd hospital day. The M-protein gene (emm) typing of the isolated SDSE was revealed to be stG6792. This type of SDSE is the most frequent cause of STSS due to GGS in Japan. We consider it to be crucial to rapidly distinguish STSS from acute occlusive PAD to achieve life-saving interventions in patients with severe soft-tissue infections.

  1. Fanconi syndrome

    Science.gov (United States)

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

  2. A 5-year journey with cutis laxa in an Indian child: The de barsy syndrome revisited

    Directory of Open Access Journals (Sweden)

    Abhijit Dutta

    2016-01-01

    Full Text Available De Barsy syndrome (DBS, synonymously known as autosomal recessive cutis laxa type III, is an extremely rare condition clinically characterized by cutis laxa, a progeroid appearance, and ophthalmologic abnormalities. We present here an account of 5-year follow-up since the birth of an Indian boy with DBS, who had a few rare and unusual manifestations. In addition, our case probably represents the first reported case of DBS from India.

  3. Phelan-McDermid syndrome due to SHANK3 mutation in an intellectually disabled adult male: Successful treatment with lithium

    NARCIS (Netherlands)

    Egger, J.I.M.; Verhoeven, W.M.A.; Groenendijk-Reijenga, R.; Kant, S.G.

    2017-01-01

    For 30 years, Phelan and co-workers described a syndrome characterised by neonatal hypotonia, global developmental delay, strongly impaired speech, sleep disturbances and hyperreactivity to sensory stimuli. This Phelan-McDermid syndrome (PMS), also presenting with symptoms from the autism spectrum

  4. Sevelamer is an Effective Drug in Treating Hyperphosphatemia Due to Tumor Lysis Syndrome in Children: A Developing World Experience.

    Science.gov (United States)

    Kahlon, Dilraj Kaur; Dinand, Veronique; Yadav, Satya Prakash; Sachdeva, Anupam

    2016-03-01

    We report here a study on efficacy of sevelamer hydrochloride in treating hyperphosphatemia due to tumor lysis syndrome (TLS) in a developing world setting. Twenty one children with hyperphosphatemia due to TLS were included. All received hyper-hydration, allopurinol and sevelamer. Efficacy was assessed by decrease in serum phosphate level, calcium-phosphate product and TLS score as per Cairo Bishop definition. Four children who underwent dialysis were excluded from analysis. Among the remaining 17 patients with hyperphosphatemia, laboratory TLS was recorded in 15 patients and clinical TLS in five. Sevelamer was given according to weight, most often 400 mg twice to thrice daily. Mean phosphatemia decreased from 8.3 ± 3.0 to 6.7 ± 2.1 mg/dl within 24 h of starting sevelamer (p = 0.02), 6.0 ± 2.1 mg/dl at 48 h, 4.9 ± 1.5 mg/dl at 72 h and 4.39 ± 1.7 mg/dl at 96 h. TLS was corrected in 72 h in 14 patients, 96 h in 1 and 120 h in another patient. Mean calcium-phosphate product decreased from 63.0 ± 14.0 to 49.2 ± 9.7 mg/dl (p = 0.002) at 24 h, 46.1 ± 17.0 mg/dl at 48 h and 39.7 ± 13.5 mg/dl at 72 h. There was no mortality due to hyperphosphatemia. Sevelamer is efficacious in children with malignancy-associated hyperphosphatemia in the developing world.

  5. 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

    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

  6. Unmasking Cryptococcal Meningitis Immune Reconstitution Inflammatory Syndrome due to Granulocyte Colony-Stimulating Factor Use in a Patient with a Poorly Differentiated Germ Cell Neoplasm

    Directory of Open Access Journals (Sweden)

    Nathan C. Bahr

    2014-01-01

    Full Text Available Cryptococcal meningitis immune reconstitution inflammatory syndrome (IRIS is frequently seen in patients with HIV and less frequently in patients on immune suppressive medications for other conditions. Here, we describe the first reported case of unmasking cryptococcal IRIS due to granulocyte colony-stimulating factor used in an HIV-negative patient with chemotherapy-induced neutropenia.

  7. A Case Report of Locked-in Syndrome Due to Bilateral Vertebral Artery Dissection After Cervical Spine Manipulation Treated by Arterial Embolectomy

    OpenAIRE

    Ke, Jiang-qiong; Yin, Bo; Fu, Fang-Wang; Shao, Sheng-Min; Lin, Yan; Dong, Qi-Qiang; Wang, Xiao-Tong; Zheng, Guo-Qing

    2016-01-01

    Abstract Cervical spine manipulation (CSM) is a commonly spinal manipulative therapies for the relief of cervical spine-related conditions worldwide, but its use remains controversial. CSM may carry the potential for serious neurovascular complications, primarily due to vertebral artery dissection (VAD) and subsequent vertebrobasilar stroke. Here, we reported a rare case of locked-in syndrome (LIS) due to bilaterial VAD after CSM treated by arterial embolectomy. A 36-year-old right-handed man...

  8. Hemolytic anemia due to passenger lymphocyte syndrome in solid malignancy patients treated with allogeneic natural killer cell products.

    Science.gov (United States)

    Skeate, Robert; Singh, Charanjeet; Cooley, Sarah; Geller, Melissa; Northouse, Joan; Welbig, Julie; Slungaard, Arne; Miller, Jeff; McKenna, David

    2013-02-01

    Allogeneic natural killer (NK) cell products for treatment of solid organ malignancies were prepared by performing T (CD3+)-cell depletion on nonmobilized apheresis mononuclear cell collections. The products were not B-cell depleted. This report details two cases of passenger lymphocyte syndrome (PLS) after NK-cell infusion. Patient 1 is a blood group A+ 56-year-old female with Stage IV ovarian carcinoma who received NK cells from an O+ donor. On day +7 she developed new hemolytic anemia. Direct antiglobulin test (DAT) was positive for immunoglobulin G and C3, and the eluate contained anti-A. Subsequently, anti-A was identified on reverse typing. She was transfused with group O red blood cells (RBCs). By day +12 she forward typed as O with anti-A and B on reverse typing. By day +42, DAT was negative with only weak anti-A on reverse typing. Patient 2 is a blood group B+ 51-year-old female with metastatic lobular breast carcinoma who received NK cells from an O+ donor. On day +7 she developed new hemolytic anemia. DAT was positive, and the eluate contained anti-A and -B. Anti-A reactivity was due to anti-A,B. The next day she developed new anti-B on reverse typing. She was transfused with O RBCs. Anti-B titer increased to a maximum of 512 on day +12. At discharge on Day +29 her anti-B titer was still 32. These patients developed PLS after infusion of NK cells. Because of these cases NK-cell products are now B (CD19+)-cell depleted at our institution, and this approach is recommended for other centers. © 2012 American Association of Blood Banks.

  9. 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.

  10. [Peripheral neuropathy as a presenting form of Cockayne syndrome].

    Science.gov (United States)

    Campistol Plana, J; Riverola de Veciana, A; Poo Argüelles, P; Colomer Oferil, J; Moreno Hernández, J

    1991-01-01

    We report a clinical observation of an infant aged 5 months with Cockayne syndrome whose symptomatology included failure to thrive, microcephaly, peripheral neuropathy and elevated level of protein in CSF. More typical signs of this syndrome appeared lately with progeroid facies, photosensitivity and intracranial calcifications that computed tomography revealed at 13 months of age. The early onset of clinical manifestations, the association with peripheral neuropathy, and the high level of protein in CSF are unusual facts that led us to do the differential diagnosis with other demyelinating disorders.

  11. 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

  12. Pure dysarthria and dysarthria-facial paresis syndrome due to internal capsule and/or corona radiata infarction.

    Science.gov (United States)

    Tanaka, Koji; Yamada, Takeshi; Torii, Takako; Yoshimura, Takeo; Takase, Kei-ichiro; Togao, Osamu; Wakata, Yoshifumi; Hiwatashi, Akio; Nakashima, Naoki; Kira, Jun-ichi; Murai, Hiroyuki

    2015-10-07

    Pure dysarthria (PD) and dysarthria-facial paresis syndrome (DFP) mainly result from lenticulostriate artery territory infarction. PD and DFP are rare clinical entities, often grouped without distinction. The purpose of this study was to examine clinical and radiographic differences between PD and DFP due to unilateral internal capsule and/or corona radiata infarction. Using a database that included consecutive patients with ischemic stroke admitted to the neurological stroke units of three hospitals within 7 days from onset between September 2011 and April 2014, we retrospectively extracted first-ever stroke patient data, who presented with PD or DFP with a single ischemic lesion localized in the internal capsule and/or corona radiata. Patients with weakness, ataxia, sensory deficit, or cortical symptoms were excluded. Ischemic lesion volume was calculated by the ABC/2 method on diffusion-weighted imaging (DWI). DWI images were normalized and superimposed to the template for PD and DFP. We compared patients' characteristics between PD and DFP. A total of 2126 patients, including 65 patients (3.1%) with PD or DFP, were registered. Of these, 13 PD patients and 18 patients with DFP due to unilateral internal capsule and/or corona radiata infarction were included for analysis. Compared with DFP patients, PD patients had longer onset-to-door time (median 37.5 vs. 10.8 h, p = 0.031), shorter vertical length (C component) of ischemic lesions (median 12.0 vs. 18.8 mm, p = 0.007), and smaller ischemic lesion volume (median 285 vs. 828 mm(3), p = 0.023). Ischemic lesions causing PD were located more frequently in the left hemisphere than DFP (92% vs. 56%, p = 0.045). The superimposed lesion pattern indicated that DFP had lesions more medial and involving posterior portions of the putamen and the caudate body, as well as more of the genu and posterior limb of the internal capsule, than PD. Ninety days after onset, symptoms disappeared in 21 (72%) out of 29 patients. In

  13. Management of cervical myelopathy due to ossification of posterior longitudinal ligament in a patient with Alström syndrome

    National Research Council Canada - National Science Library

    Kanna, Rishi Mugesh; Gradil, Daniela; Boszczyk, Bronek M

    2012-01-01

    Alström syndrome (AS) is a rare autosomal recessive genetic disorder with multisystemic involvement characterised by early blindness, hearing loss, obesity, insulin resistance, diabetes mellitus, dilated cardiomyopathy...

  14. Pancoast’s Syndrome due to Fungal Abscess in the Apex of Lung in an Immunocompetent Individual: A Case Report and Review of the Literature

    OpenAIRE

    Anirban Das; Sabyasachi Choudhury; Sumitra Basuthakur; Sibes Kumar Das; Angshuman Mukhopadhyay

    2014-01-01

    Malignant tumours in the apices of the lungs, especially bronchogenic carcinoma (Pancoast tumours), are the most common cause of Pancoast’ syndrome which presents with shoulder or arm pain radiating along the medial aspect of forearm and weakness of small muscles of hand with wasting of hypothenar eminence due to neoplastic involvement of C8 and T1 and T2 nerve roots of brachial plexus. There are a number of benign conditions which may lead to Pancoast’s syndrome; fungal abscess located in t...

  15. Necrotising fasciitis causing compartment syndrome of the forearm and septic shock due to Vibrio vulnificus: a case report.

    Science.gov (United States)

    Leechavengvongs, Somsak; Jidpugdeebodin, Suwanee; Milindankura, Samaniya

    2006-01-01

    Compartment syndrome caused by necrotising fasciitis has rarely been described. We report a case of systemic Vibrio vulnificus necrotising fasciitis presented with compartmental syndrome of the forearm and septic shock. The patient was treated with systemic antibiotic treatment and urgent surgical decompression followed by multiple necrotic tissue debridements. The patient recovered with some limited motion of the hand function. Prompt recognition and immediate treatment with antibiotics and surgical intervention are essential.

  16. 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.

  17. 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

    The case is presented of a 25-year-old Caucasian patient with Budd-Chiari syndrome due to membranous obstruction of the liver veins and inferior caval vein syndrome as a result of secondary hyperplasia of the caudate lobe of the liver, obstructing the caval vein. Diagnosis was established...... by intravascular pressure measurements, ultrasound examinations and caval and liver vein angiograms. Treatment consisting of stent placement in the outlet of a hepatic vein and subsequent transjugular intrahepatic porto-systemic shunt (TIPS) insertion via the caval vein was successful. After 34 months of follow......-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...

  18. New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

    National Research Council Canada - National Science Library

    Navarro, Claire Laure; Esteves-Vieira, Vera; Courrier, Sebastien; Boyer, Amandine; Thuy Duong Nguyen, [No Value; Le Thi Thanh Huong, [No Value; Meinke, Peter; Schroeder, Winnie; Cormier-Daire, Valerie; Sznajer, Yves; Amor, David J; Lagerstedt, Kristina; Biervliet, Martine; van den Akker, Peter C; Cau, Pierre; Roll, Patrice; Levy, Nicolas; Badens, Catherine; Wehnert, Manfred; De Sane-Giovannoli, Annachiara

    2014-01-01

    Restrictive dermopathy (RD) is a rare and extremely severe congenital genodermatosis, characterized by a tight rigid skin with erosions at flexure sites, multiple joint contractures, low bone density and pulmonary insufficiency...

  19. 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.

  20. A girl with permanent neonatal diabetes due to KCNJ11 mutation presented with Mauriac syndrome after improper adjustment in sulfonylurea dosage over 6 years.

    Science.gov (United States)

    Chai-Udom, Rapeepun; Sahakitrungruang, Taninee; Wacharasindhu, Suttipong; Supornsilchai, Vichit

    2016-09-01

    Mauriac syndrome is characterized by growth impairment, Cushingoid features, and hepatomegaly in patients with poorly controlled type 1 diabetes mellitus (T1DM). We report a novel presentation of Mauriac syndrome in a 9-year-old girl who was diagnosed with neonatal diabetes at 3 months of age due to the p.R201C mutation in KCNJ11. She was initially treated successfully with glipizide at a dose of 0.85 mg/kg/day but after being lost to follow-up and having improper adjustment in dose over many years, the recent dose of 0.6 mg/kg/day appears to have been insufficient for glycemic control but enough to maintain a low level of C-peptide and prevent diabetic ketoacidosis. With proper insulin administration, all presenting clinical characteristics were resolved within 1 month. A review of the literature relating to clinical manifestations of Mauriac syndrome in children with diabetes was performed and included in this report for comparison with our patient. While Mauriac syndrome has been traditionally associated with T1DM, the presence of Mauriac syndrome should not be excluded in other types of diabetes mellitus.

  1. Jacobsen Syndrome: Surgical Complications due to Unsuspected Diagnosis, the Importance of Molecular Studies in Patients with Craniosynostosis.

    Science.gov (United States)

    Linares Chávez, Etzalli P; Toral López, Jaime; Valdés Miranda, Juan M; González Huerta, Luz M; Perez Cabrera, Adrian; Del Refugio Rivera Vega, María; Messina Baas, Olga M; Cuevas-Covarrubias, Sergio A

    2016-02-01

    Jacobsen syndrome (JBS) is an uncommon contiguous gene syndrome. About 85-92% of cases have a de novo origin. Clinical variability and severity probably depend on the size of the affected region. The typical clinical features in JBS include intellectual disability, growth retardation, craniofacial dysmorphism as well as craniosynostosis, congenital heart disease, and platelet abnormalities. The proband was a 1 year/3-month-old Mexican male. Oligonucleotide-SNP array analysis using the GeneChip Human Cytoscan HD was carried out for the patient from genomic DNA. The SNP array showed a 14.2-Mb deletion in chromosome 11q23.3q25 (120,706-134,938 Mb), which involved 163 RefSeq genes in the database of genomic variation. We report a novel deletion in JBS that increases the knowledge of the variability in the mutation sites in this region and expands the spectrum of molecular and clinical defects in this syndrome.

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

    Directory of Open Access Journals (Sweden)

    Dragović Tamara

    2016-01-01

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

  3. Pancoast's Syndrome due to Fungal Abscess in the Apex of Lung in an Immunocompetent Individual: A Case Report and Review of the Literature.

    Science.gov (United States)

    Das, Anirban; Choudhury, Sabyasachi; Basuthakur, Sumitra; Das, Sibes Kumar; Mukhopadhyay, Angshuman

    2014-01-01

    Malignant tumours in the apices of the lungs, especially bronchogenic carcinoma (Pancoast tumours), are the most common cause of Pancoast' syndrome which presents with shoulder or arm pain radiating along the medial aspect of forearm and weakness of small muscles of hand with wasting of hypothenar eminence due to neoplastic involvement of C8 and T1 and T2 nerve roots of brachial plexus. There are a number of benign conditions which may lead to Pancoast's syndrome; fungal abscess located in the apex of lung is one of them. Oral or intravenous antifungals are the treatment of choice in this case and complete recovery is usual, whereas, surgical resection followed by chemoradiotherapy is the treatment of choice in case of Pancoast's syndrome due to lung cancers. Hence, tissue diagnosis is mandatory. Here, we report a case of apical fungal abscess causing Pancoast's syndrome in an immunocompetent individual of 35 years of age to raise the awareness among the clinicians regarding this rare clinical entity.

  4. Lifespan extension by dietary intervention in a mouse model of Cockayne syndrome uncouples early postnatal development from segmental progeria.

    Science.gov (United States)

    Brace, Lear E; Vose, Sarah C; Vargas, Dorathy F; Zhao, Shuangyun; Wang, Xiu-Ping; Mitchell, James R

    2013-12-01

    Cockayne syndrome (CS) is a rare autosomal recessive segmental progeria characterized by growth failure, lipodystrophy, neurological abnormalities, and photosensitivity, but without skin cancer predisposition. Cockayne syndrome life expectancy ranges from 5 to 16 years for the two most severe forms (types II and I, respectively). Mouse models of CS have thus far been of limited value due to either very mild phenotypes, or premature death during postnatal development prior to weaning. The cause of death in severe CS models is unknown, but has been attributed to extremely rapid aging. Here, we found that providing mutant pups with soft food from as late as postnatal day 14 allowed survival past weaning with high penetrance independent of dietary macronutrient balance in a novel CS model (Csa(-/-) | Xpa(-/-)). Survival past weaning revealed a number of CS-like symptoms including small size, progressive loss of adiposity, and neurological symptoms, with a maximum lifespan of 19 weeks. Our results caution against interpretation of death before weaning as premature aging, and at the same time provide a valuable new tool for understanding mechanisms of progressive CS-related progeroid symptoms including lipodystrophy and neurodysfunction. © 2013 the Anatomical Society and John Wiley & Sons Ltd.

  5. 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.

  6. Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome

    NARCIS (Netherlands)

    M. Gerards (Mike); W. Sluiter (Wim); B. van den Bosch (Bianca); L.E.A. de Wit (Elly); C. Calis (Chantal); M. Frentzen (Margrit); H. Akbari (Hana); K. Schoonderwoerd (Kees); H.R. Scholte (Hans); R.J.E. Jongbloed (Roselie); A. Hendrickx (Alexandra); I.F.M. de Coo (René); H.J.M. Smeets (Hubert)

    2010-01-01

    textabstractBackground: Leigh syndrome is an early onset, progressive, neurodegenerative disorder with developmental and motor skills regression. Characteristic magnetic resonance imaging abnormalities consist of focal bilateral lesions in the basal ganglia and/or the brainstem. The main cause is a

  7. 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 b...

  8. First case of anti-ganglioside GM1-positive Guillain-Barré syndrome due to hepatitis E virus infection

    NARCIS (Netherlands)

    Maurissen, I.; Jeurissen, A.; Strauven, T.; Sprengers, D.; de Schepper, B.

    2012-01-01

    A 51-year-old previously healthy woman presented with Guillain-Barré syndrome (GBS) and elevated liver enzymes. Further diagnostic investigations showed the presence of an acute hepatitis E infection associated with anti-ganglioside GM1 antibodies. After treatment with intravenous immunoglobulins,

  9. 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...

  10. 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.

  11. 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.

    Science.gov (United States)

    Shao, Elichilia R; Kiyegi, Lucas F; Mwasamwaja, Amos O; Kilonzo, Kajiru; Hamel, Ben C J

    2017-01-01

    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.

  12. 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.

  13. Progressive interstitial renal fibrosis due to Chinese herbs in a patient with calcinosis Raynaud esophageal sclerodactyly telangiectasia (CREST) syndrome.

    Science.gov (United States)

    Nishimagi, E; Kawaguchi, Y; Terai, C; Kajiyama, H; Hara, M; Kamatani, N

    2001-10-01

    A 58-year-old woman with calcinosis Raynaud esophageal sclerodactyly telangiectasia (CREST) syndrome presented with slowly progressive renal dysfunction. She was normotensive with normal plasma renin activity and lacking symptoms of vasculitis. Mild proteinuria was of tubular origin, but serological tests and an absence of sicca symptoms excluded the possibility of Sjögren's syndrome. Light microscopic study of renal biopsy showed interstitial fibrosis with ectasia and degeneration of proximal tubule and lymphocyte infiltration. There were no remarkable changes in the glomeruli. Chromatographic analysis of the Chinese herbs regimen that she had been taking for several years demonstrated aristolochic acid. She was diagnosed as Chinese herbs nephropathy. Therapy with oral prednisolone was markedly effective in improving renal function and anemia. To our knowledge, this is the first report of Chinese herbs nephropathy complicating connective tissue disease. It is important to consider the possibility of Chinese herbs nephropathy when patients treated with Chinese herbs develop renal dysfunction.

  14. Parent and Patient Perceptions of Functional Impairment Due to Tourette Syndrome: Development of a Shortened Version of the Child Tourette Syndrome Impairment Scale.

    Science.gov (United States)

    Barfell, Kara S Francis; Snyder, Ryan R; Isaacs-Cloes, Kelly M; Garris, Jordan F; Roeckner, Alyssa R; Horn, Paul S; Guthrie, Michael D; Wu, Steve W; Gilbert, Donald L

    2017-07-01

    The Child Tourette Syndrome Impairment Scale (CTIM) rates 37 problems in school, social, and home domains separately for tics and for comorbid diagnoses. However, a shorter version would be easier to implement in busy clinics. Using published data from 85 children with Tourette syndrome, 92 controls, and parents, factor analysis was used to generate a "mini-CTIM" composed of 12 items applied to tic and comorbid diagnoses. Child- and parent-rated mini-CTIM scores were compared and correlated across raters and accounting for clinician-rated tic severity and presence of attention-deficit hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD). The mini-CTIM achieved domain Cronbach alphas ranging from 0.71 to 0.94 and intra-item correlation coefficients ranging from 0.84 to 0.96. The resulting scale correlated with clinician-rated tic severity and reflected the presence of ADHD and OCD. The mini-CTIM appears promising as a practical assessment tool for tic- and non-tic-related impairment in children with Tourette syndrome.

  15. 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.

  16. Outcome of coronary lesions with deferred revascularization due to negative fractional flow reserve in subjects with acute coronary syndrome.

    Science.gov (United States)

    Picchi, Andrea; Leone, Antonio Maria; Zilio, Filippo; Cerrato, Enrico; D'Ascenzo, Fabrizio; Fineschi, Massimo; Rigattieri, Stefano; Ferlini, Marco; Cameli, Matteo; Calabria, Paolo; Cresti, Alberto; Limbruno, Ugo

    2017-03-01

    Revascularization of functionally non-significant stenoses in patients with stable coronary artery disease can safely be deferred as rate of adverse cardiovascular events is low. It is not clear whether fractional flow reserve (FFR) is just as accurate in acute coronary syndromes (ACS). The aim of this study is to assess the outcome of coronary lesions whose revascularization was deferred based on negative FFR values in subjects with ACS. Patients with acute coronary syndrome and showing at least one coronary stenosis whose revascularization was deferred based on FFR value >0.80 were included in the study. The primary endpoint of the study was the rate of target lesion failure (TLF), a composite of cardiac events (cardiac death, myocardial infarction and any coronary revascularization) related to the initially deferred stenosis at three-year follow-up. A total of 319 patients (237 male), mean age 68 [59-74] years and 355 coronary lesions with deferred revascularization based on negative FFR values (0.88±0.05) were selected. The rate of TLF was 6% at 1-year, 9% at 2-year and 12% at 3-year follow-up. TLF was driven by a new acute coronary syndrome in 75% of cases. The median time interval from FFR assessment to TLF was 457 [138-868] days. In patients with acute coronary syndrome, the rate of TLF of the initially deferred coronary stenoses is 12% at 3-year follow-up and TLF occurred because of a new ACS in three quarters of cases. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  17. 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.

  18. Hypercalcemia due to Milk-Alkali Syndrome and Fracture-Induced Immobilization in an Adolescent Boy with Hypoparathyroidism.

    Science.gov (United States)

    Henry, Rohan K; Gafni, Rachel I

    2016-01-01

    Hypercalcemia of immobilization, while rare, may occur in adolescent boys after fracture. Although not fully understood, the mechanism appears to be related to bone turnover uncoupling, in part mediated by upregulation of RANKL. Animal studies suggest that parathyroidectomy suppresses RANKL-stimulated osteoclastogenesis in immobilized bone. Thus, immobilization-induced hypercalcemia should be uncommon in patients with hypoparathyroidism. We present a 15-year-old boy with well-controlled hypoparathyroidism who developed hypercalcemia and milk-alkali syndrome 5 weeks after sustaining a severe tibia/fibula fracture requiring bedrest. Milk-alkali syndrome (hypercalcemia, alkalosis, and renal insufficiency) results from chronic excessive ingestion of calcium and absorbable alkali. Prior to fracture, our patient had not experienced hypercalcemia despite high doses of supplements, necessary during puberty. Supplements were discontinued and his biochemistries normalized with saline diuresis and a dose of pamidronate. Alkaline phosphatase, which was low at presentation, returned to normal 5 weeks later with remobilization. Fracture and immobilization caused acute suppression of bone formation with persistent bone resorption in this rapidly growing adolescent; continuation of carbonate-containing calcium supplements resulted in the milk-alkali syndrome. Therefore, close monitoring of serum calcium with adjustments in supplementation are indicated in immobilized patients with hypoparathyroidism. © 2016 S. Karger AG, Basel.

  19. Hypercalcemia due to Milk –Alkali Syndrome and Fracture-induced Immobilization in an Adolescent Boy with Hypoparathyroidism

    Science.gov (United States)

    Henry, Rohan K.; Gafni, Rachel I.

    2016-01-01

    Background Hypercalcemia of immobilization, while rare, may occur in adolescent boys after fracture. Although not fully understood, the mechanism appears to be related to bone turnover uncoupling, in part mediated by upregulation of RANKL. Animal studies suggest that parathyroidectomy suppresses RANKL-stimulated osteoclastogenesis in immobilized bone. Thus, immobilization-induced hypercalcemia should be uncommon in patients with hypoparathyroidism. Methods/Results We present a 15-year-old boy with well-controlled hypoparathyroidism who developed hypercalcemia and milk-alkali syndrome 5 weeks after sustaining a severe tibia/fibula fracture requiring bedrest. Milk-alkali syndrome (hypercalcemia, alkalosis, and renal insufficiency) results from chronic excessive ingestion of calcium and absorbable alkali. Prior to fracture, our patient had not experienced hypercalcemia despite high doses of supplements, necessary during puberty. Supplements were discontinued and his biochemistries normalized with saline diuresis and a dose of pamidronate. Alkaline phosphatase, which was low at presentation, returned to normal 5 weeks later with remobilization. Conclusions Fracture and immobilization caused acute suppression of bone formation with persistent bone resorption in this rapidly growing adolescent; continuation of carbonate-containing calcium supplements resulted in the milk-alkali syndrome. Therefore, close monitoring of serum calcium with adjustments in supplementation are indicated in immobilized patients with hypoparathyroidism. PMID:27184240

  20. Fever of unknown origin due to preleukemia/myelodysplastic syndrome: the diagnostic importance of monocytosis with elevated serum ferritin levels.

    Science.gov (United States)

    Cunha, Burke A; Hamid, Naveed; Krol, Vitaly; Eisenstein, Lawrence

    2006-01-01

    Fever of unknown origin (FUO) is a common clinical diagnostic dilemma. In the elderly, causes of FUO most commonly include malignancy or infection, and less commonly include collagen vascular diseases. Among the collagen vascular diseases causing FUO in the elderly, polymyalgia rheumatica/temporal arteritis, and adult Still's disease (adult juvenile rheumatoid arthritis) are difficult diagnoses to prove. Among the infectious causes of FUO in the elderly are subacute bacterial endocarditis, intra-abdominal abscesses, and extrapulmonary tuberculosis. In the elderly, neoplastic causes of FUO include lymphomas, hepatomas, renal cell carcinomas, and hepatic or central nervous system metastases. Acute leukemias, particularly during "blast" transformation, may present as acute fevers in the absence of infection, but are rare causes of FUO. Preleukemia/myelodysplastic syndromes are exceedingly rare causes of FUO. We present a case of an elderly man who presented with findings that initially suggested adult Still's disease. Prolonged and profound monocytosis provided the key clue to his subsequent diagnosis of preleukemia/myelodysplastic syndrome. In this patient, a positive Naprosyn test result also suggested a neoplastic cause for his FUO. After months of prolonged fevers, myelocytes/metamyelocytes were eventually demonstrated in his peripheral smear during hospital evaluation. These findings, in concert with the persistent monocytosis, highly elevated ferritin levels, polyclonal gammopathy on serum protein electrophoresis, and eventual presence of myelocytes/metamyelocytes on peripheral smear, prompted a bone marrow test that demonstrated blast cells confirming the diagnosis of preleukemia myelodysplastic syndrome as the cause of this patient's FUO.

  1. 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

  2. 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.

  3. Toxic shock syndrome due to community-acquired methicillin-resistant Staphylococcus aureus infection: Two case reports and a literature review in Japan

    Directory of Open Access Journals (Sweden)

    Ryuichi Sada

    2017-01-01

    Full Text Available Community-acquired methicillin-resistant Staphylococcus aureus has been spreading worldwide, including in Japan. However, few cases of toxic shock syndrome caused by Community-acquired methicillin-resistant Staphylococcus aureus have been reported in Japan. We report 2 cases, in middle-aged women, of toxic shock syndrome due to Community-acquired methicillin-resistant Staphylococcus aureus via a vaginal portal of entry. The first patient had used a tampon and the second patient had vaginitis due to a cleft narrowing associated with vulvar lichen sclerosus. Both patients were admitted to our hospital with septic shock and severe acute kidney injury and subsequently recovered with appropriate antibiotic treatment. In our review of the literature, 8 cases of toxic shock syndrome caused by Community-acquired methicillin-resistant Staphylococcus aureus were reported in Japan. In these 8 cases, the main portals of entry were the skin and respiratory tract; however, the portal of entry of Community-acquired methicillin-resistant Staphylococcus aureus from a vaginal lesion has not been reported in Japan previously.

  4. Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A

    OpenAIRE

    Wang, Xiaozhu; Huang, Yu; Yan, Ming; Li, Jiuwei; Ding, Changhong; Jin, Hong; Fang, Fang; Yang, Yanling; Wu, Baiyan; Chen, Dafang

    2017-01-01

    There are two genetics complementary groups Cockayne syndrome type A and B (CS-A and CS-B OMIM 216400, 133540), which is a rare autosomal recessive segmental progeroid syndrome. Homozygous or compound heterozygous mutations in the excision repair cross-complementation group 8 gene (ERCC8) result in CS-A, and mutations in ERCC6 result in CS-B. Homozygous ERCC6/ERCC8 mutations also result in UV-sensitive syndrome. In this study, twenty-one Han Chinese patients with CS were investigated to ident...

  5. Infective Endocarditis Associated with Streptococcal Toxic Shock Syndrome due to Streptococcus dysgalactiae subsp. equisimilis Infection in a Hemodialysis Patient

    Directory of Open Access Journals (Sweden)

    Momoko Kan

    2017-11-01

    Full Text Available The risk of infective endocarditis in chronic hemodialysis patients is markedly higher than that in the general population. We report the first case of a hemodialysis patient with infective endocarditis caused by Streptococcus dysgalactiae subsp. equisimilis (SDSE who presented with streptococcal toxic shock syndrome. In the last decade, there has been an increase in the incidence of SDSE infections. Therefore, it is important to recognize SDSE as a possible causative agent of infective endocarditis in an immunocompromised population, such as hemodialysis patients.

  6. Eculizumab therapy for atypical haemolytic uraemic syndrome due to a gain-of-function mutation of complement factor B.

    Science.gov (United States)

    Gilbert, Rodney D; Fowler, Darren J; Angus, Elizabeth; Hardy, Stephen A; Stanley, Louise; Goodship, Timothy H

    2013-08-01

    Atypical haemolytic uraemic syndrome (aHUS) is caused by dysregulated complement activation. A humanised anti-C5 monoclonal antibody has recently become available for treatment of this condition We present the first description of an infant with an activating mutation of complement factor B successfully treated with eculizumab. On standard doses she had evidence of ongoing C5 cleavage despite a good clinical response. Eculizumab is effective therapy for aHUS associated with factor B mutations, but recommended doses may not be adequate for all patients.

  7. [Clinical and cellular biologic diagnosis of Cockayne syndrome: a case report].

    Science.gov (United States)

    Wu, C H; Ko, Y M; Chien, C H; Yang, R C; Hung, K L; Hsiao, T J; Lee, C I

    1991-12-01

    We report a case of Cockayne syndrome. A 6-year-old boy presented with a progeroid face, dwarfism, psychomotor retardation, skin photosensitivity and retinal pigmented degeneration. Neurological study disclosed slowed nerve conduction velocities and a brain CT showed calcification in the basal ganglia. Auditory brain stem evoked potential showed prolonged interpeak latency of wave I to wave V. Laboratory evaluation revealed mild liver dysfunction and peripheral eosinophilia. Fibroblast cultures from the patient and his family were exposed to ultraviolet (UV) light of 254 nm, ranging from 1 to 10 J/m2. Under 1 J/m2 irradiation, the surviving fraction of the fibroblasts from the patient, his mother, and a control subject were 40%, 50%, 90% respectively. If the fibroblasts of these subjects were exposed to 2 J/m2 and 3 J/m2 irradiation, the surviving fraction changed to 10%, 22%, 80% and 1.5%, 9%, 68%, respectively. However, fibroblasts from his sister and father showed the same surviving fraction as the control. The study showed that fibroblasts from the patient and his mother were extremely sensitive to UV light irradiation. We also study the concentration of the pyrimidine dimer of DNA in the patient and the control subject. Pyrimidine dimer showed no difference between the patient and the normal subject before and after 24-hour UV irradiation. These results suggest that the sensitivity to UV of Cockayne fibroblasts may be due to a ligase deficiency or to a replicon initiation disturbance in Cockayne cells.

  8. 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.

  9. Controversies in the differential diagnosis of Brown-Sequard syndrome due to cervical spinal disease from stroke: A case series

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    Vaner Koksal, M.D.

    2017-09-01

    Full Text Available Stroke is generally considered to be the first preliminary diagnosis in patients presenting with acute hemiparesia in the emergency department. But rarely in unexpected spontaneous neurological pathologies that may lead to hemiparesis. The data from 8 non-traumatic patients who underwent surgical treatment for brown-sequard syndrome (BSS were reviewed retrospectively. All patients were initially misdiagnosed with strokes. Two of the patients had spinal canal stenosis, two had spinal epidural hematomas, one had an ossified herniated disc and three had soft herniated discs. None of the patients complained of significant pain at the initial presentation. All of the patients had a mild sensory deficit that was initially unrecognized. The pain of the patients began to become evident after hospitalization and, patients transferred to neurosurgery department. Cervical spinal pathologies compressing the corticospinal tract in one-half of the cervical spinal canal may present with only hemiparesis, without neck and radicular pain. If it's too late, permanent neurological damage may become inevitable while it is a correctable pathology. Keywords: Brown-Sequard syndrome, Cervical cord, Herniated disc, Spinal epidural hematoma, Stroke

  10. 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.

  11. Streptococcal toxic-shock syndrome due to Streptococcus dysgalactiae subspecies equisimilis in breast cancer-related lymphedema: a case report.

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    Sumazaki, Makoto; Saito, Fumi; Ogata, Hideaki; Yoshida, Miho; Kubota, Yorichika; Magoshi, Syunsuke; Kaneko, Hironori

    2017-07-14

    Breast cancer-related lymphedema often causes cellulitis and is one of the most common complications after breast cancer surgery. Streptococci are the major pathogens underlying such cellulitis. Among the streptococci, the importance of the Lancefield groups C and G is underappreciated; most cases involve Streptococcus dysgalactiae subspecies equisimilis. Despite having a relatively weak toxicity compared with group A streptococci, Streptococcus dysgalactiae subspecies equisimilis is associated with a mortality rate that is as high as that of group A streptococci in cases of invasive infection because Streptococcus dysgalactiae subspecies equisimilis mainly affects elderly individuals who already have various comorbidities. An 83-year-old Japanese woman with breast cancer-related lymphedema in her left upper limb was referred to our hospital with high fever and acute pain with erythema in her left arm. She showed septic shock with disseminated intravascular coagulation. Blood culture showed positive results for Streptococcus dysgalactiae subspecies equisimilis, confirming a diagnosis of streptococcal toxic-shock syndrome. She survived after successful intensive care. To the best of our knowledge, this case represents the first report of Streptococcus dysgalactiae subspecies equisimilis-induced streptococcal toxic-shock syndrome in a patient with breast cancer-related lymphedema. Breast cancer-related lymphedema is a common problem, and we must pay attention to invasive streptococcal soft tissue infections, particularly in elderly patients with chronic disease.

  12. [Aicardi-Goutieres syndrome due to mutation of the IFIH1 gene with pontine involvement. A case report].

    Science.gov (United States)

    Florido-Rodriguez, A; Eiris-Punal, J; Barros-Angueira, F; Toledo-Bravo de Laguna, L; Santana-Artiles, A; Sebastian-Garcia, I; Santana-Rodriguez, A; Cabrera-Lopez, J C

    2016-10-01

    Aicardi-Goutieres syndrome is a rare progressive subacute encephalopathy of early onset - generally in the first year of life - characterised by psychomotor retardation, microcephaly, alterations in the white matter of the brain, intracranial calcifications, pleocytosis and elevated levels of interferon alpha in the cerebrospinal fluid. It is associated to an increase in the expression of genes stimulated by interferon in peripheral blood, a fact known as the interferon signature. The levels of genes stimulated by interferon has been postulated as a good biomarker, as they remain high in peripheral blood over time and are more sensitive, in comparison to determinations of interferon alpha and neopterins in cerebrospinal fluid, which descend as of one year of life. To date, mutations have been reported in seven genes that overstimulate the interferon alpha pathway, and the last to be discovered is IFIH1 (interferon induced with helicase C domain 1), with a pattern of dominant autosomal inheritance. We present the first case reported in the Hispanic literature caused by a de novo mutation in the IFIH1 gene. The clinical features, studies conducted and review of the clinical, neuroradiological and genetic aspects are described. The inheritance of the mutations reported for Aicardi-Goutieres syndrome was classically considered as being recessive autosomal, but these findings show that dominant autosomal mutations in the IFIH1 gene can cause the disease. As a previously unreported neuroimaging finding, it presents a lesion consisting in cystic encephalomalacia in the pons.

  13. Diagnosis of Familial Wolf-Hirschhorn Syndrome due to a Paternal Cryptic Chromosomal Rearrangement by Conventional and Molecular Cytogenetic Techniques

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    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.

  14. 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.

  15. COCKAYNE SYNDROME: REPORT OF TWO CASES WITHIN A FAMILY

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    M. Mohammadi

    1999-07-01

    Full Text Available The clinical and phenotypic features of two siblings (a 12 years old girl and her 7 year old brother with Cockayne syndrome are described. The main problems were mild to moderate mental retardation, dwarfism, clumsy gait, photosensitive skin lesions and progeroid (senile like appearance. Brain CT - scans revealed symmetrical, well defined areas of calcification mainly located at lenticular nuclei, in both patients. Vie brainstem auditory responses also showed increased hearing thresholds and absolute wave latencies, that were more prominent in the older sister. The older patient had a healthy twin sister with normal mental function and phenotypic appearance.

  16. A new syndrome sheds light on old medical & rehabilitative dilemmas: paraparesis due to rhabdomyolysis and bilaterally symmetric compartment syndrome in four patients. Cases study.

    Science.gov (United States)

    Goldin, Diana; Shemesh, Frida; Eljashev-Shimshon, Rachel; Ohry, Avi

    2010-01-01

    Via our description of a seemingly heterogeneous group of four patients who presented to our rehabilitation facility with a rather unusual clinical presentation of compartment syndrome with development of a flaccid paraparesis and rhabdomyolysis immediately after awakening from a prolonged sleep episode in an unusual posture - which might, in fact, be a 'new syndrome' - we have also come to address an important issue linking our group of patients - specifically, the complexities which present to a rehabilitative facility in the cases of unusual and unclear diagnoses. Eventually, all four of our patients remained severely disabled. All had suffered sensorimotor axonal demyelinative polyneuropathies and two patients had subclinical hypothyroidism. Prior to the prolonged sleep episode, they had all consumed alcohol and drugs. Using these four rather demanding diagnostic rehabilitative cases we address the ever-important issue of timely mutual communication and patience. For when a rehabilitative facility is confronted with patients whose diagnoses are not clear, the scope of the long-term comprehensive rehabilitation management faces some major obstacles with respect to how the rehabilitative team can succeed in designing a 'tailor-made' rehabilitation program for these patients, which often-times proves to be a rather tricky task requiring innovative and creative efforts on the parts of all those involved in the care of the patient. Quite a challenging task, indeed, yet one genuinely necessary to attempt to achieve so that the patient, family and, of course, the 'payer agency/provider' can all prepare themselves, realistically so as to obtain the best overall rehabilitative outcome for these patients. We conclude that what is most necessary for these unique patients is patience.

  17. Treatment of persistent post-concussion syndrome due to mild traumatic brain injury: current status and future directions.

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    Hadanny, Amir; Efrati, Shai

    2016-08-01

    Persistent post-concussion syndrome caused by mild traumatic brain injury has become a major cause of morbidity and poor quality of life. Unlike the acute care of concussion, there is no consensus for treatment of chronic symptoms. Moreover, most of the pharmacologic and non-pharmacologic treatments have failed to demonstrate significant efficacy on both the clinical symptoms as well as the pathophysiologic cascade responsible for the permanent brain injury. This article reviews the pathophysiology of PCS, the diagnostic tools and criteria, the current available treatments including pharmacotherapy and different cognitive rehabilitation programs, and promising new treatment directions. A most promising new direction is the use of hyperbaric oxygen therapy, which targets the basic pathological processes responsible for post-concussion symptoms; it is discussed here in depth.

  18. Budd-Chiari Syndrome with Multiple Thrombi due to a Familial Arg42Ser Mutation in the Protein C Gene

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    Jun Muratsu

    2013-01-01

    Full Text Available A 34-year-old Japanese woman was admitted to our hospital complaining of developing bilateral pedal edema. Imaging studies led to a diagnosis of Budd-Chiari syndrome combined with internal jugular vein thrombus. We investigated the cause of thrombosis and found that the anticoagulant activity of protein C was decreased. Genetic analysis showed the presence of a c.125C>A (Arg42Ser substitution in the protein C gene (PROC of the proband, which generates an Arg42Ser mutation that replaces the scissile bond Arg42-Ala43 normally cleaved by a furin-like processing protease. Her father and younger brother also carried this mutation, although they had no evidence of thrombosis.

  19. Delayed diagnosis of Herlyn-Werner-Wunderlich syndrome due to microperforation and pyocolpos in obstructed vaginal canal.

    Science.gov (United States)

    Wozniakowska, Ewa; Torres, Anna; Milart, Pawel; Wozniak, Slawomir; Czuczwar, Piotr; Szkodziak, Piotr; Paszkowski, Tomasz

    2014-08-01

    To present a rare anomaly consisting of uterus didelphys, longitudinal vaginal septum, obstructed hemivagina with pyocolpos, fistula to the open vaginal canal, and ipsilateral renal agenesis, referred as Herlyn-Werner-Wunderlich syndrome (HWWS). A 14-year-old girl with recurring purulent vaginal discharge lasting for a few months. Preoperative examination revealed one vaginal canal with one cervical opening on the right side. There was a fistula leading from the obstructed vaginal canal to the left vagina. Intravaginal ultrasound examination demonstrated a longitudinal vaginal septum and a closed pyocolpos on the right side. The longitudinal vaginal septum was excised by way of electrocauterization under direct vision. HWWS should be considered in the differential diagnosis in patients with uterus didelphys and unusual symptoms such as pyocolpos and vaginal discharge. Copyright © 2014 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  20. Water drinking in the management of orthostatic intolerance due to orthostatic hypotension, vasovagal syncope and the postural tachycardia syndrome.

    Science.gov (United States)

    Mathias, C J; Young, T M

    2004-09-01

    Water drinking recently has been shown to raise blood pressure in normal subjects and in patients with autonomic failure who have orthostatic hypotension. However, in normal young subjects, ingestion of approximately 500 ml has no pressor effect; but in older subjects there is an increase in blood pressure. An even greater rise in blood pressure occurs in cases with autonomic failure. The possible mechanisms responsible for the pressor response to water include neural and humoral factors; fluid redistribution also needs to be considered. This review will concentrate on the water pressor response in normal subjects and different groups of patients with autonomic diseases who have orthostatic intolerance, on the mechanisms that could be involved, and on whether this pressor response may be used in the management of orthostatic hypotension, vasovagal syncope and the postural tachycardia syndrome.

  1. 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.

  2. Pleural empyema and streptococcal toxic shock syndrome due to Streptococcus pyogenes in a healthy Spanish traveler in Japan

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    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.

  3. Russell-Silver syndrome due to paternal H19/IGF2 hypomethylation in a patient conceived using intracytoplasmic sperm injection.

    Science.gov (United States)

    Chopra, M; Amor, D J; Sutton, L; Algar, E; Mowat, D

    2010-06-01

    Epigenetic alterations at several maternal loci have been associated with imprinting disorders in children conceived using assisted reproductive technologies. To date, epimutations at paternal loci have been observed in the spermatozoa of infertile men, but there is little evidence of paternal epimutations in babies conceived using assisted reproductive treatment. This is a report of a female infant with classic Russell-Silver Syndrome (RSS) who was conceived using intracytoplasmic injection of spermatozoa obtained from testicular aspiration. Methylation studies revealed hypomethylation of the paternally derived H19/IGF2 locus. As far as is known, this is the second assisted reproduction treatment-conceived patient with classic RSS and this epigenotype. This case provides further evidence that epimutations affecting paternal alleles might be associated with assisted reproductive treatment. 2010 Reproductive Healthcare Ltd. All rights reserved.

  4. Iatrogenic Cushing's syndrome due to drug interaction between glucocorticoids and the ritonavir or cobicistat containing HIV therapies.

    Science.gov (United States)

    Elliot, Emilie R; Theodoraki, Aikaterini; Jain, Lakshmi R; Marshall, Neal J; Boffito, Marta; Baldeweg, Stephanie E; Waters, Laura J

    2016-10-01

    Ritonavir and cobicistat, used as pharmacokinetic enhancers in combination with some antiretrovirals (ARVs) for the treatment of HIV, are potent inhibitors of the CYP3A4 isoenzyme. Most glucocorticoids are metabolised via the CYP3A4 pathway and iatrogenic Cushing's syndrome (ICS), with possible secondary adrenal insufficiency (SAI), is a recognised complication following co-administration with ritonavir or cobicistat. A structured approach for identifying and managing potentially affected individuals has not been established.We systematically identified patients with ICS/SAI and found substantial heterogeneity in clinical practice across three large London HIV centres. While this significant drug interaction and its complications are now well-recognised, it is apparent that there is no standardised approach to management or guidance for the general physician. Here we describe the management of ICS/SAI in our current practice, review the available evidence and suggest practice recommendations. © Royal College of Physicians 2016. All rights reserved.

  5. 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. Copyright 2011, SLACK Incorporated.

  6. Effects of Radix Astragali and Its Split Components on Gene Expression Profiles Related to Water Metabolism in Rats with the Dampness Stagnancy due to Spleen Deficiency Syndrome

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    Wen-Xiao Zhao

    2017-01-01

    Full Text Available Radix Astragali (RA with slight sweet and warm property is a significant “qi tonifying” herb; it is indicated for the syndrome of dampness stagnancy due to spleen deficiency (DSSD. The purpose of this research was to explore effects of RA and its split components on gene expression profiles related to water metabolism in rats with the DSSD syndrome for identifying components representing property and flavor of RA. The results indicated that RA and its split components, especially polysaccharides component, significantly increased the body weight and the urine volume and decreased the water load index of model rats. Our data also indicated differentially expressed genes (DEGs related to water metabolism involved secretion, ion transport, water homeostasis, regulation of body fluid levels, and water channel activity; the expression of AQP1, AQP3, AQP4, AQP5, AQP6, and AQP8 was improved; calcium, cAMP, MAPK, PPAR, AMPK, and PI3K-Akt signaling pathway may be related to water metabolism. In general, results indicate that RA and its split components could promote water metabolism in rats with the DSSD syndrome via regulating the expression of AQPs, which reflected sweet-warm properties of RA. Effects of the polysaccharides component are better than others.

  7. Tetany due to hypoparathyroidism as the initial manifestation of autoimmune polyendocrine syndrome type-2: A case report

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    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.

  8. Controversies in the differential diagnosis of Brown-Sequard syndrome due to cervical spinal disease from stroke: A case series.

    Science.gov (United States)

    Koksal, Vaner; Yavasi, Ozcan

    2017-09-01

    Stroke is generally considered to be the first preliminary diagnosis in patients presenting with acute hemiparesia in the emergency department. But rarely in unexpected spontaneous neurological pathologies that may lead to hemiparesis. The data from 8 non-traumatic patients who underwent surgical treatment for brown-sequard syndrome (BSS) were reviewed retrospectively. All patients were initially misdiagnosed with strokes. Two of the patients had spinal canal stenosis, two had spinal epidural hematomas, one had an ossified herniated disc and three had soft herniated discs. None of the patients complained of significant pain at the initial presentation. All of the patients had a mild sensory deficit that was initially unrecognized. The pain of the patients began to become evident after hospitalization and, patients transferred to neurosurgery department. Cervical spinal pathologies compressing the corticospinal tract in one-half of the cervical spinal canal may present with only hemiparesis, without neck and radicular pain. If it's too late, permanent neurological damage may become inevitable while it is a correctable pathology.

  9. [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.

  10. 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.

  11. Is Efficacy of the Anti-Cd20 Antibody Rituximab Preventing Hemolysis Due to Passenger Lymphocyte Syndrome?

    Science.gov (United States)

    Tsujimura, Kazuma; Ishida, Hideki; Tanabe, Kazunari

    2017-02-01

    Passenger lymphocyte syndrome (PLS) often occurs after ABO-mismatched solid organ and/or bone marrow transplantation between a donor and recipient. Viable donor B-lymphocytes transferred during organ transplantation produce antibodies against recipient red cell antigens, leading to hemolysis. The incidence of PLS has been reported to be around 9% after renal transplantation. A previous report showed that rituximab (Rit) was useful for treatment of PLS in allogeneic stem cell transplantation, bowel transplant and severe cases of hemolysis. However, the effectiveness of Rit in preventing PLS after renal transplantation has not yet been evaluated. The participants in this study were 85 patients who had undergone ABO-mismatched renal transplantation from January 2005 to April 2013. Rit was administered to these patients before transplantation. None of the patients that received Rit treatment developed PLS. Thus administration of Rit before transplantation effectively controlled the production of antibodies by B-lymphocytes, which probably prevented the development of PLS. © 2016 International Society for Apheresis, Japanese Society for Apheresis, and Japanese Society for Dialysis Therapy.

  12. Compartment syndrome like picture in metaphyseal comminuted fracture of tibia treated by locking plate due to tight closure

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    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.

  13. A Novel Porcine Model of Septic Shock Induced by Acute Respiratory Distress Syndrome due to Methicillin-resistant Staphylococcus aureus

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    Shuo Wang

    2017-01-01

    Conclusions: In the present study, we developed a novel porcine model of septic shock induced by ARDS due to severe MRSA pneumonia with characteristic hyperdynamic and hypodynamic phases in 24 h, which mimicked the hemodynamic changing of septic shock in human.

  14. Outer Retinal Changes Including the Ellipsoid Zone Band in Usher Syndrome 1B due to MYO7A Mutations.

    Science.gov (United States)

    Sumaroka, Alexander; Matsui, Rodrigo; Cideciyan, Artur V; McGuigan, David B; Sheplock, Rebecca; Schwartz, Sharon B; Jacobson, Samuel G

    2016-07-01

    To study transition zones from normal to abnormal retina in Usher syndrome IB (USH1B) caused by myosin 7A (MYO7A) mutations. Optical coherence tomography (OCT) scattering layers in outer retina were segmented in patients (n = 16, ages 2-42; eight patients had serial data, average interval 4.5 years) to quantify outer nuclear layer (ONL) and outer segments (OS) as well as the locus of EZ (ellipsoid zone) edge and its extent from the fovea. Static perimetry was measured under dark-adapted (DA) and light-adapted (LA) conditions. Ellipsoid zone edge in USH1B-MYO7A could be located up to 23° from the fovea. Ellipsoid zone extent constricted at a rate of 0.51°/year with slower rates at smaller eccentricities. A well-defined EZ line could be associated with normal or abnormal ONL and/or OS thickness; detectable ONL extended well beyond EZ edge. At the EZ edge, the local slope of LA sensitivity loss was 2.6 (±1.7) dB/deg for central transition zones. At greater eccentricities, the local slope of cone sensitivity loss was shallower (1.1 ± 0.4 dB/deg for LA) than that of rod sensitivity loss (2.8 ± 1.2 dB/deg for DA). In USH1B-MYO7A, constriction rate of EZ extent depends on the initial eccentricity of the transition. Ellipsoid zone edges in the macula correspond to large local changes in cone vision, but extramacular EZ edges show more pronounced losses on rod-based vision tests. It is advisable to use not only the EZ line but also other structural and functional parameters for estimating natural history of disease and possible therapeutic effects in future clinical trials of USH1B-MYO7A.

  15. Left Ventricular Mass and Intrarenal Arterial Stiffness as Early Diagnostic Markers in Cardiorenal Syndrome Type 5 due to Systemic Sclerosis.

    Science.gov (United States)

    Gigante, Antonietta; Barilaro, Giuseppe; Barbano, Biagio; Romaniello, Antonella; Di Mario, Francesca; Quarta, Silvia; Gasperini, Maria Ludovica; Di Lazzaro Giraldi, Gianluca; Laviano, Alessandro; Amoroso, Antonio; Cianci, Rosario; Rosato, Edoardo

    2016-02-01

    Cardiorenal syndrome type 5 (CRS-5) includes a group of conditions characterized by a simultaneous involvement of the heart and kidney in the course of a systemic disease. Systemic sclerosis (SSc) is frequently involved in the etiology of acute and chronic CRS-5 among connective tissue diseases. In SSc patients, left ventricular mass (LVM) can be used as a marker of nutritional status and fibrosis, while altered intrarenal hemodynamic parameters are suggestive of early kidney involvement. Forty-two consecutive patients with a diagnosis of SSc without cardiac and/or renal impairment were enrolled to assess whether cardiac muscle mass can be related to arterial stiffness. Thirty subjects matched for age and sex were also enrolled as healthy controls (HC). All patients performed echocardiography and renal ultrasound. Doppler indices of intrarenal stiffness and echocardiographic indices of LVM were significantly increased in SSc patients compared to HC. A positive correlation exists between LVM/body surface area and pulsatile index (p < 0.05, r = 0.36), resistive index (p < 0.05, r = 0.33) and systolic/diastolic ratio (p < 0.05, r = 0.38). Doppler indices of intrarenal stiffness and LVM indices were significantly higher in SSc patients with digital ulcers than in SSc patients without a digital ulcer history. SSc is characterized by the presence of microvascular and multiorgan injury. An early cardiac and renal impairment is very common. LVM and intrarenal arterial stiffness can be considered as early markers of CRS onset. The clinical use of these markers permits a prompt identification of organ damage. An early diagnosis allows the appropriate setting of pharmacological management, by slowing disease progression. © 2016 S. Karger AG, Basel.

  16. 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.

  17. Eccrine sweat gland anatomy in cockayne syndrome: a possible diagnostic aid.

    Science.gov (United States)

    Landing, B H; Sugarman, G; Dixon, L G

    1983-01-01

    Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation. Many other diseases have some of these features, so that diagnosis of Cockayne syndrome can be difficult, especially in younger children. Eccrine sweat glands were microdissected from autopsy or biopsy specimens from patients with Cockayne syndrome, and mean values for duct length, secretory coil volume, ratio of coil volume to duct length, and axis ratio of the secretory coil were determined. In comparison with values for eccrine glands of patients with no known genetic or chromosomal disease, eccrine glands in Cockayne syndrome are abnormally small for age. Whether other diseases with various similarities to Cockayne syndrome produce similar growth abnormality of eccrine sweat glands is not known, but determination of sweat gland size may provide data suggesting or supporting the diagnosis of Cockayne syndrome.

  18. Metabolic syndrome as a risk factor for total hip or knee replacement due to primary osteoarthritis: a prospective cohort study (the HUNT study and the Norwegian Arthroplasty Register

    Directory of Open Access Journals (Sweden)

    Hellevik AI

    2018-01-01

    Full Text Available Alf Inge Hellevik,1,2 Marianne Bakke Johnsen,3,4 Arnulf Langhammer,1 Valborg Baste,5 Ove Furnes,6,7 Kjersti Storheim,3,4 John Anker Zwart,3,4 Gunnar Birkeland Flugsrud,2 Lars Nordsletten2,4 1The HUNT Research Centre, Department of Public Health and Nursing, Faculty of Medicine and Health Sciences, NTNU, Norwegian University of Science and Technology, Levanger, 2Division of Orthopaedic Surgery, Oslo University Hospital, Oslo, 3Research and Communication Unit for Musculoskeletal Health, Division of Clinical Neuroscience, Oslo University Hospital, Oslo, 4Faculty of Medicine, University of Oslo, Oslo, 5Uni Research Health, Bergen, 6The Norwegian Arthroplasty Register, Department of Orthopedic Surgery, Haukeland University Hospital, Bergen, 7Department of Clinical Medicine, Institute of Medicine and Dentistry, University of Bergen, Bergen, Norway Objective: Biochemical changes associated with obesity may accelerate osteoarthritis beyond the effect of mechanical factors. This study investigated whether metabolic syndrome and its components (visceral obesity, hypertension, dyslipidemia and insulin resistance were risk factors for subsequent total hip replacement (THR or total knee replacement (TKR due to primary osteoarthritis.Design: In this prospective cohort study, data from the second survey of the Nord-Trøndelag Health Study 2 (HUNT2 were linked to the Norwegian Arthroplasty Register for identification of the outcome of THR or TKR. The analyses were stratified by age (<50, 50–69.9 and ≥70 years and adjusted for gender, body mass index, smoking, physical activity and education.Results: Of the 62,661 participants, 12,593 (20.1% were identified as having metabolic syndrome, and we recorded 1,840 (2.9% THRs and 1,111 (1.8% TKRs during a mean follow-up time of 15.4 years. Cox regression analyses did not show any association between full metabolic syndrome and THR or TKR, except in persons <50 years with metabolic syndrome who had a decreased risk

  19. Dhakeri-Bange syndrome in goats due to Penicillium and Aspergillus spp, in Banke district of Nepal: a Clinical-Laboratory Investigation

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    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. Severe Hyperinsulinaemic Hypoglycaemia in Beckwith-Wiedemann Syndrome due to Paternal Uniparental Disomy of 11p15.5 Managed with Sirolimus Therapy.

    Science.gov (United States)

    Güemes, Maria; Shah, Pratik; Roženková, Klára; Gilbert, Clare; Morgan, Kate; Hussain, Khalid

    2016-01-01

    Almost half of the children with Beckwith-Wiedemann syndrome (BWS) will develop hyperinsulinaemic hypoglycaemia (HH). In the majority of BWS cases, HH will be transient; however, approximately in 5% of them, HH will be severe and often medically-unresponsive. Children with BWS due to paternal uniparental disomy (UPD) of chromosome 11p15 belong to this severe category and have traditionally required near-total pancreatectomy. The use of mTOR inhibitors had not been reported yet in this type of patients. A 1-month-old female with genetically confirmed BWS due to UPD of chromosome 11p15 was admitted for management of severe HH. Blood glucose concentrations were stabilised with high intravenous dextrose concentration, glucagon and octreotide infusions as she was proven to be diazoxide unresponsive. To avoid a subtotal pancreatectomy, an mTOR inhibitor - sirolimus - was introduced. The dose of sirolimus was optimised progressively and she was able to come off intravenous fluids and glucagon therapy. She has not presented any side effects and her growth is normal after 19 months of therapy. This is the first case reported of BWS due to UPD of chromosome 11p15 where sirolimus treatment has been effective in stabilising the blood glucose concentrations and avoiding a near-total pancreatectomy without major side effects detected. © 2016 S. Karger AG, Basel.

  1. Chronic widespread dermatophytosis due to Trichophyton rubrum: a syndrome associated with a Trichophyton-specific functional defect of phagocytes

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    Maria da Gloria Teixeira de Souza

    2015-08-01

    Full Text Available Dermatophytes are agents of typically benign superficial infections. However, an increasing number of severe infections in immunocompromised hosts has been reported. We aimed to understand the factors underlying the existence of a cohort of patients presenting with chronic widespread dermatophytosis (CWD due to Trichophyton rubrum, but with no signs of immunodeficiency. Their disease is usually recurrent and difficult to manage. Fourteen patients meeting the following criteria for CWD were studied: T. rubrum culture-proven skin lesions of ≥10 cm in at least one dimension; the involvement of at least three noncontiguous localizations of >1 year’s duration; and no predisposing conditions. For comparison, we also studied 13 acute Tinea pedis patients. Macrophages and neutrophils were isolated and tested for T. rubrum conidia phagocytic and killing activity. H2O2, NO, and pro- and anti-inflammatory cytokine release were measured. All experiments were run with age- and sex-matched healthy donors’ cells in parallel. CWD patients’ macrophages and neutrophils presented with reduced T. rubrum–phagocytic and killing abilities, and reduced H2O2 and NO release when compared with those of healthy donors. CWD patients’ macrophages secreted lower levels of the proinflammatory cytokines interleukin (IL-1, IL-6, IL-8, and tumor necrosis factor (TNF-α, but enhanced levels of the anti-inflammatory cytokine IL-10. Neutrophil secretion closely followed this unbalanced pattern. In contrast, responses to the positive controls zymosan, lipopolysaccharide, and phorbol myristate acetate were comparable with those of healthy donors. The same experiments were performed with macrophages and neutrophils from the acute T. pedis patients and showed no differences when compared with the matched healthy donors. Patients with CWD have a T. rubrum-related functional deficiency of phagocytes and may represent a distinct clinical entity in the complex spectrum of the

  2. Chronic widespread dermatophytosis due to Trichophyton rubrum: a syndrome associated with a Trichophyton-specific functional defect of phagocytes.

    Science.gov (United States)

    de Sousa, Maria da Glória T; Santana, Grazielle B; Criado, Paulo R; Benard, Gil

    2015-01-01

    Dermatophytes are agents of typically benign superficial infections. However, an increasing number of severe infections in immunocompromised hosts has been reported. We aimed to understand the factors underlying the existence of a cohort of patients presenting with chronic widespread dermatophytosis (CWD) due to Trichophyton rubrum, but with no signs of immunodeficiency. Their disease is usually recurrent and difficult to manage. Fourteen patients meeting the following criteria for CWD were studied: T. rubrum culture-proven skin lesions of ≥10 cm in at least one dimension; the involvement of at least three non-contiguous localizations of >1 year's duration; and no predisposing conditions. For comparison, we also studied 13 acute Tinea pedis patients. Macrophages and neutrophils were isolated and tested for T. rubrum conidia phagocytic and killing activity. H2O2, NO, and pro- and anti-inflammatory cytokine release were measured. All experiments were run with age- and sex-matched healthy donors' cells in parallel. CWD patients' macrophages and neutrophils presented with reduced T. rubrum-phagocytic and killing abilities, and reduced H2O2 and NO release when compared with those of healthy donors. CWD patients' macrophages secreted lower levels of the proinflammatory cytokines interleukin (IL)-1β, IL-6, IL-8, and tumor necrosis factor (TNF)-α, but enhanced levels of the anti-inflammatory cytokine IL-10. Neutrophil secretion closely followed this unbalanced pattern. In contrast, responses to the positive controls zymosan, lipopolysaccharide, and phorbol myristate acetate were comparable with those of healthy donors. The same experiments were performed with macrophages and neutrophils from the acute Tinea pedis patients and showed no differences when compared with the matched healthy donors. Patients with CWD have a T. rubrum-related functional deficiency of phagocytes and may represent a distinct clinical entity in the complex spectrum of the Trichophyton

  3. 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.

  4. A Case Report of Locked-in Syndrome Due to Bilateral Vertebral Artery Dissection After Cervical Spine Manipulation Treated by Arterial Embolectomy.

    Science.gov (United States)

    Ke, Jiang-Qiong; Yin, Bo; Fu, Fang-Wang; Shao, Sheng-Min; Lin, Yan; Dong, Qi-Qiang; Wang, Xiao-Tong; Zheng, Guo-Qing

    2016-02-01

    Cervical spine manipulation (CSM) is a commonly spinal manipulative therapies for the relief of cervical spine-related conditions worldwide, but its use remains controversial. CSM may carry the potential for serious neurovascular complications, primarily due to vertebral artery dissection (VAD) and subsequent vertebrobasilar stroke. Here, we reported a rare case of locked-in syndrome (LIS) due to bilaterial VAD after CSM treated by arterial embolectomy.A 36-year-old right-handed man was admitted to our hospital with numbness and weakness of limbs after treating with CSM for neck for half an hour. Gradually, although the patient remained conscious, he could not speak but could communicate with the surrounding by blinking or moving his eyes, and turned to complete quadriplegia, complete facial and bulbar palsy, dyspnea at 4 hours after admission. He was diagnosed with LIS. Then, the patient was received cervical and brain computed tomography angiography that showed bilateral VAD. Aortocranial digital subtraction angiography showed vertebrobasilar thrombosis, blocking left vertebral artery, and stenosis of right vertebral artery. The patient was treated by using emergency arterial embolectomy and followed by antiplatelet therapy and supportive therapy in the intensive care unit and a general ward. Twenty-seven days later, the patient's physical function gradually improved and discharged but still left neurological deficit with muscle strength grade 3/5 and hyperreflexia of limbs.Our findings suggested that CSM might have potential severe side-effect like LIS due to bilaterial VAD, and arterial embolectomy is an important treatment choice. The practitioner must be aware of this complication and should give the patients informed consent to CSM, although not all stroke cases temporally related to SCM have pre-existing craniocervical artery dissection.

  5. FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: Evidence for missense changes, insertions, and a deletion due to alternative RNA splicing

    Energy Technology Data Exchange (ETDEWEB)

    Meyers, G.A.; Przylepa, K.A.; Scott, A.F. [Johns Hopkins Hospital, Baltimore, MD (United States)] [and others

    1996-03-01

    Fibroblast growth factor receptor 2 (FGFR2) mutations have been associated with the craniosynostotic conditions Crouzon, Jackson-Weiss, and Pfeiffer syndromes. Previously, mutations were described in the exons IIIa and IIIc, which form the extracellular, third immunoglobulin-like domain (IgM) and adjacent linker regions, both of which are normally involved in ligand binding. For all three conditions, mutations were found in exon IIIc. Only in Crouzon syndrome were mutations identified in exon IIIa. In this study, 39 cases with one of these three conditions were screened for exon IIIa or IIIc mutations. Eleven mutations are reported in 17 unrelated cases. Mutations in exon IIIa are identified for not only Crouzon but also Jackson-Weiss and Pfeiffer syndromes. Four mutations in either exon IIIa or exon IIIc reported only in Crouzon syndrome are present also in one of the other two syndromes. Two insertions, one in exon IIIa in a Crouzon syndrome patient and the other in exon IIIc in a Pfeiffer syndrome patient, were observed. The latter mutation has the same alternative RNA splicing effect as a reported synonymous mutation for Crouzon syndrome. A missense mutation was detected in one Pfeiffer syndrome family in which two members had craniosynostosis without limb anomalies. The inter- and intrafamilial variability in expression of FGFR2 mutations suggests that these three syndromes, presumed to be clinically distinct, are instead representative of a spectrum of related craniosynostotic and digital disorders. 16 refs., 3 figs., 1 tab.

  6. 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.

  7. A Case of Cushing’s Syndrome due to Ectopic Adrenocorticotropic Hormone Secretion from Esthesioneuroblastoma with Long Term Follow-Up after Resection

    Directory of Open Access Journals (Sweden)

    Leslee N. Matheny

    2018-01-01

    Full Text Available We present a case of a 52-year-old male who developed Cushing’s Syndrome due to ectopic adrenocorticotrophic hormone (ACTH secretion from a large esthesioneuroblastoma (ENB of the nasal sinuses. The patient initially presented with polyuria, polydipsia, weakness, and confusion. Computed tomography scan of the head and magnetic resonance imaging showed a 7 cm skull base mass centered in the right cribriform plate without sella involvement. Work-up revealed ACTH-dependent hypercortisolemia, which did not suppress appropriately after high-dose dexamethasone. Subsequent imaging of the chest, abdomen, and pelvis did not reveal other possible ectopic sources of ACTH secretion besides the ENB. His hospital course was complicated by severe hypokalemia and hyperglycemia before successful surgical resection of the tumor, the biopsy of which showed ENB. Postoperatively, his ACTH level dropped below the limit of detection. In the ensuing 4 months, he underwent adjuvant chemoradiation with carboplatin and docetaxel with good response and resolution of hypokalemia and hyperglycemia, with no sign of recurrence as of 30 months postoperatively. His endogenous cortisol production is rising but has not completely recovered.

  8. 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.

  9. Unique Preservation of Neural Cells in Hutchinson- Gilford Progeria Syndrome Is Due to the Expression of the Neural-Specific miR-9 MicroRNA

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    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.

  10. A Hypothesis for the Cause of Complex Regional Pain Syndrome - Type I (Reflex Sympathetic Dystrophy): Pain Due to Deep-Tissue Microvascular Pathology

    Science.gov (United States)

    Coderre, Terence J.; Bennett, Gary J.

    2015-01-01

    Complex regional pain syndrome - type I (CRPS-I; Reflex Sympathetic Dystrophy) is a chronic pain condition that usually follows a deep-tissue injury such as fracture or sprain. The cause of the pain is unknown. We have developed an animal model (chronic post-ischemia pain; CPIP) that creates CRPS-I –like symptomology. The model is produced by occluding the blood flow to one hind paw for 3 hr under general anesthesia. Following reperfusion, the treated hind paw exhibits an initial phase of hyperemia and edema. This is followed by mechano-hyperalgesia, mechano-allodynia, and cold-allodynia that last for at least one month. Light- and electron microscopic analyses of the nerves at the site of the tourniquet show that the majority of these animals have no sign of injury to myelinated or unmyelinated axons. However, electron microscopy shows that the ischemia-reperfusion (I-R) injury produces a microvascular injury, slow-flow/no-reflow, in the capillaries of the hind paw muscle and digital nerves. We propose that the slow-flow/no-reflow phenomenon initiates and maintains deep tissue ischemia and inflammation, leading to the activation of muscle nociceptors, and the ectopic activation of sensory afferent axons due to endoneurial ischemia and inflammation. These data, and a large body of clinical evidence, suggest that in at least a subset of CRPS-I patients, the fundamental cause of the abnormal pain sensations is ischemia and inflammation due to microvascular pathology in deep tissues, leading to a combination of inflammatory and neuropathic pain processes. Moreover, we suggest a unifying idea that relates the pathogenesis of CRPS-I to that of CRPS-II. Lastly, our hypothesis suggests that the role of the sympathetic nervous system in CRPS-I is a factor that is not fundamentally causative, but may have an important contributory role in early stage disease. PMID:20704671

  11. Decreased cell proliferation and higher oxidative stress in fibroblasts from Down Syndrome fetuses. Preliminary study.

    Science.gov (United States)

    Gimeno, Amparo; García-Giménez, José Luis; Audí, Laura; Toran, Nuria; Andaluz, Pilar; Dasí, Francisco; Viña, José; Pallardó, Federico V

    2014-01-01

    Down Syndrome is the most common chromosomal disease and is also known for its decreased incidence of solid tumors and its progeroid phenotype. Cellular and systemic oxidative stress has been considered as one of the Down Syndrome phenotype causes. We correlated, in a preliminary study, the fibroblast proliferation rate and different cell proliferation key regulators, like Rcan1 and the telomere length from Down Syndrome fetuses, with their oxidative stress profile and the Ribonucleic acid and protein expression of the main antioxidant enzymes together with their activity. Increased oxidized glutathione/glutathione ratio and high peroxide production were found in our cell model. These results correlated with a distorted antioxidant shield. The messenger RNA (SOD1) and protein levels of copper/zinc superoxide dismutase were increased together with a decreased mRNA expression and protein levels of glutathione peroxidase (GPx). As a consequence the [Cu/ZnSOD/(catalase+GPx)] activity ratio increases which explains the oxidative stress generated in the cell model. In addition, the expression of thioredoxin 1 and glutaredoxin 1 is decreased. The results obtained show a decreased antioxidant phenotype that correlates with increased levels of Regulator of calcineurin 1 and attrition of telomeres, both related to oxidative stress and cell cycle impairment. Our preliminary results may explain the proneness to a progeroid phenotype. © 2013.

  12. DNA damage accumulation and TRF2 degradation in atypical Werner syndrome fibroblasts with LMNA mutations.

    Science.gov (United States)

    Saha, Bidisha; Zitnik, Galynn; Johnson, Simon; Nguyen, Quyen; Risques, Rosa A; Martin, George M; Oshima, Junko

    2013-01-01

    Segmental progeroid syndromes are groups of disorders with multiple features suggestive of accelerated aging. One subset of adult-onset progeroid syndromes, referred to as atypical Werner syndrome, is caused by mutations in the LMNA gene, which encodes a class of nuclear intermediate filaments, lamin A/C. We previously described rapid telomere attrition and accelerated replicative senescence in cultured fibroblasts overexpressing mutant lamin A. In this study, we investigated the cellular phenotypes associated with accelerated telomere shortening in LMNA mutant primary fibroblasts. In early passage primary fibroblasts with R133L or L140R LMNA mutations, shelterin protein components were already reduced while cells still retained telomere lengths comparable to those of controls. There was a significant inverse correlation between the degree of abnormal nuclear morphology and the level of TRF2, a shelterin subunit, suggesting a potential causal relationship. Stabilization of the telomeres via the introduction of the catalytic subunit of human telomerase, hTERT (human telomerase reverse transcriptase), did not prevent degradation of shelterin components, indicating that reduced TRF2 in LMNA mutants is not mediated by short telomeres. Interestingly, γ-H2AX foci (reflecting double strand DNA damage) in early passage LMNA mutant primary fibroblasts and LMNA mutant hTERT fibroblasts were markedly increased in non-telomeric regions of DNA. Our results raise the possibility that mutant lamin A/C causes global genomic instability with accumulation of non-telomeric DNA damage as an early event, followed by TRF2 degradation and telomere shortening.

  13. DNA Damage Accumulation and TRF2 Degradation in Atypical Werner Syndrome Fibroblasts with LMNA mutations

    Directory of Open Access Journals (Sweden)

    Bidisha eSaha

    2013-07-01

    Full Text Available Segmental progeroid syndromes are groups of disorders with multiple features suggestive of accelerated aging. One subset of adult-onset progeroid syndromes, referred to as atypical Werner syndrome (AWS, is caused by mutations in the LMNA gene, which encodes a class of nuclear intermediate filaments, lamin A/C. We previously described rapid telomere attrition and accelerated replicative senescence in cultured fibroblasts overexpressing mutant lamin A. In this study, we investigated the cellular phenotypes associated with accelerated telomere shortening in LMNA mutant primary fibroblasts. In early passage primary fibroblasts with R133L or L140R LMNA mutations, shelterin protein components were already reduced while cells still retained telomere lengths comparable to those of controls. There was a significant inverse correlation between the degree of abnormal nuclear morphology and the level of TRF2, a shelterin subunit, suggesting a potential causal relationship. Stabilization of the telomeres via the introduction of the catalytic subunit of human telomerase, hTERT, did not prevent degradation of shelterin components, indicating that reduced TRF2 in LMNA mutants is not mediated by short telomeres. Interestingly, -H2AX foci (reflecting double strand DNA damage in early passage LMNA mutant primary fibroblasts and LMNA mutant hTERT fibroblasts were markedly increased in non-telomeric regions of DNA. Our results raise the possibility that mutant lamin A/C causes global genomic instability with accumulation of non-telomeric DNA damage as an early event, followed by TRF2 degradation and telomere shortening.

  14. 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.

  15. 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

    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

  16. 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, H.A.M.; Levtchenko, E.N.; Martinerie, L.; Pertijs, J.C.L.M.; Allegaert, K.; Devriendt, K.; Masereeuw, R.; Monnens, L.A.; Lombes, M.

    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

  17. 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...

  18. 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

  19. 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)

  20. [The metabolic and molecular bases of Cockayne syndrome].

    Science.gov (United States)

    Flores-Alvarado, Luis Javier; Ramirez-Garcia, Sergio Alberto; Núñez-Reveles, Nelly Yazmine

    2010-01-01

    Cockayne is a segmental progeroid syndrome that has autosomal recessive inheritance pattern. It is mainly characterized by Intrauterine growth retardation, severe postnatal growth deficiency, cachectic dwarfism, microcephaly, wizened face, sensorineural hearing loss, cataracts, dental caries, cardiac arrhythmias, hypertension, atherosclerosis, proteinuria, micropenis, renal failure, skeletal abnormalities, skin photosensitivity, decreased subcutaneous adipose tissue, cerebral atrophy, dementia, basal ganglia calcifications, ataxia and apraxia. It has a complex phenotype given by genetic heterogeneity. There are five gene responsible for this syndrome: CSA, CSB, XPB, XPD and XPG, in which various mutations have been found. The biochemical effect of these mutations includes dysfunctional protein of the repair system for oxidative damage to DNA, the complex coupled to transcription and the nucleotide excision repair system. Considering the role played for these proteins and its effects on clinical phenotype when they are deficient, we suggest that these genes might be candidates for analyzing susceptibility to common chronic degenerative diseases related to oxidative stress and aging.

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

  2. 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. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  3. Clinical implications of de Barsy syndrome.

    Science.gov (United States)

    Warner, Lindsay L; Olsen, David A; Smith, Hugh M

    2017-11-17

    De Barsy syndrome is a rare, autosomal recessive syndrome characterized by cutis laxa, progeroid appearance, ophthalmic opacification, skeletal malformations, growth delays, and intellectual disability. The aim of this case series is to identify the anesthetic considerations in the clinical management of patients with de Barsy syndrome. A retrospective case review from 1968 to 2016 was performed at a single tertiary medical center to identify patients with de Barsy syndrome who underwent anesthesia for diagnostic and surgical procedures. We collected and analyzed the perioperative records and following data: age, sex, American Society of Anesthesiologists physical status, relevant comorbidities, surgical procedures, anesthesia management, and observed complications. Three patients underwent 64 unique anesthetics for a diverse collection of diagnostic and surgical procedures. An array of anesthetics and techniques were successfully used. Observations of the perioperative period found 7 episodes of intraoperative hyperthermia (>38.3°), a single difficult airway requiring fiberoptic bronchoscopic-guided intubation, and repeatedly difficult intravenous access. This expanded case series suggests that providers caring for patients with de Barsy syndrome should be aware of potential challenges with airway management, vascular access, and temperature monitoring. © 2017 John Wiley & Sons Ltd.

  4. Recent Advances in Understanding Werner Syndrome [version 1; referees: 3 approved

    Directory of Open Access Journals (Sweden)

    Raghavendra A. Shamanna

    2017-09-01

    Full Text Available Aging, the universal phenomenon, affects human health and is the primary risk factor for major disease pathologies. Progeroid diseases, which mimic aging at an accelerated rate, have provided cues in understanding the hallmarks of aging. Mutations in DNA repair genes as well as in telomerase subunits are known to cause progeroid syndromes. Werner syndrome (WS, which is characterized by accelerated aging, is an autosomal-recessive genetic disorder. Hallmarks that define the aging process include genomic instability, telomere attrition, epigenetic alterations, loss of proteostasis, deregulation of nutrient sensing, mitochondrial dysfunction, cellular senescence, stem cell exhaustion, and altered intercellular communication. WS recapitulates these hallmarks of aging and shows increased incidence and early onset of specific cancers. Genome integrity and stability ensure the normal functioning of the cell and are mainly guarded by the DNA repair machinery and telomeres. WRN, being a RecQ helicase, protects genome stability by regulating DNA repair pathways and telomeres. Recent advances in WS research have elucidated WRN’s role in DNA repair pathway choice regulation, telomere maintenance, resolution of complex DNA structures, epigenetic regulation, and stem cell maintenance.

  5. 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.

  6. Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene.

    Science.gov (United States)

    Ratbi, Ilham; Jaouad, Imane Cherkaoui; Elorch, Hamza; Al-Sheqaih, Nada; Elalloussi, Mustapha; Lyahyai, Jaber; Berraho, Amina; Newman, William G; Sefiani, Abdelaziz

    2016-10-01

    Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss (SNHL), amelogenesis imperfecta, nail abnormalities, and occasional or late-onset retinal pigmentation. It is the mildest form known to date of peroxisome biogenesis disorder caused by hypomorphic mutations of PEX1 and PEX6 genes. We report on a second Moroccan family with Heimler syndrome with early onset, severe visual impairment and important phenotypic overlap with Usher syndrome. The patient carried a novel homozygous missense variant c.3140T > C (p.Leu1047Pro) of PEX1 gene. As standard biochemical screening of blood for evidence of a peroxisomal disorder did not provide a diagnosis in the individuals with HS, patients with SNHL and retinal pigmentation should have mutation analysis of PEX1 and PEX6 genes. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  7. Mutations in Cockayne Syndrome-Associated Genes (Csa and Csb) Predispose to Cisplatin-Induced Hearing Loss in Mice.

    Science.gov (United States)

    Rainey, Robert N; Ng, Sum-Yan; Llamas, Juan; van der Horst, Gijsbertus T J; Segil, Neil

    2016-04-27

    Cisplatin is a common and effective chemotherapeutic agent, yet it often causes permanent hearing loss as a result of sensory hair cell death. The causes of sensitivity to DNA-damaging agents in nondividing cell populations, such as cochlear hair and supporting cells, are poorly understood, as are the specific DNA repair pathways that protect these cells. Nucleotide excision repair (NER) is a conserved and versatile DNA repair pathway for many DNA-distorting lesions, including cisplatin-DNA adducts. Progressive sensorineural hearing loss is observed in a subset of NER-associated DNA repair disorders including Cockayne syndrome and some forms of xeroderma pigmentosum. We investigated whether either of the two overlapping branches that encompass NER, transcription-coupled repair or global genome repair, which are implicated in Cockayne syndrome and xeroderma pigmentosum group C, respectively, modulates cisplatin-induced hearing loss and cell death in the organ of Corti, the auditory sensory epithelium of mammals. We report that cochlear hair cells and supporting cells in transcription-coupled repair-deficient Cockayne syndrome group A (Csa(-/-)) and group B (Csb(-/-)) mice are hypersensitive to cisplatin, in contrast to global genome repair-deficient Xpc(-/-) mice, both in vitro and in vivo We show that sensory hair cells in Csa(-/-) and Csb(-/-) mice fail to remove cisplatin-DNA adducts efficiently in vitro; and unlike Xpc(-/-) mice, Csa(-/-) and Csb(-/-) mice lose hearing and manifest outer hair cell degeneration after systemic cisplatin treatment. Our results demonstrate that Csa and Csb deficiencies predispose to cisplatin-induced hearing loss and hair/supporting cell damage in the mammalian organ of Corti, and emphasize the importance of transcription-coupled DNA repair in the protection against cisplatin ototoxicity. The utility of cisplatin in chemotherapy remains limited due to serious side effects, including sensorineural hearing loss. We show that mouse

  8. Miller-Dieker syndrome due to maternal cryptic translocation t(10;17)(q26.3;p13.3)

    Energy Technology Data Exchange (ETDEWEB)

    Masuno, Mitsuo; Imaizumi, Kiyoshi; Nakamura, Mihoko; Kuroki, Yoshikazu [Kanagawa Children`s Medical Center, Yokohama (Japan)] [and others

    1995-12-04

    We report on a 3-month-old girl with Miller-Dieker syndrome resulting from a maternal full-cryptic translocation t(10;17)(q26.3;p13.3) detectable only by using fluorescence in situ hybridization (FISH). Parental studies using FISH are crucial for genetic counselling in cases of Miller-Dieker syndrome with submicroscopic deletion at 17p13.3. In a family with a parental cryptic translocation and high recurrence risk, prenatal diagnosis using FISH is feasible. 15 refs., 3 figs.

  9. 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

  10. 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

  11. Coccidioides immitis meningitis in a patient with hyperimmunoglobulin E syndrome due to a novel mutation in signal transducer and activator of transcription.

    Science.gov (United States)

    Powers, Annie E; Bender, Jeffrey M; Kumánovics, Attila; Ampofo, Krow; Augustine, Nancy; Pavia, Andrew T; Hill, Harry R

    2009-07-01

    Hyperimmunoglobulin E syndrome (HIES) is a rare primary immunodeficiency characterized by recurrent skin and lung infections. We report the first case of Coccidioides immitis meningitis in a patient with HIES. Coccidioides should be included in the differential diagnosis for central nervous system infections in HIES patients.

  12. Papular-purpuric gloves and socks syndrome due to parvovirus B19: a report of two simultaneous cases in cohabitant families

    Directory of Open Access Journals (Sweden)

    S. Bello

    2013-03-01

    Full Text Available The so-called papular-purpuric gloves and socks syndrome (PPGSS is a condition characterized by acute onset of intense erythema, edema and petechiae with a typical localization on the hands and feet, besides mucosal lesions of the oral cavity. The syndrome has a favorable and self-limited course, requiring only a symptomatic therapy. In the 50% of the cases described in literature (ninety cases in 22 years, is documented an acute infection caused by parvovirus B19 and in only two cases the onset of PPGSS is reported among different members of the same family. The aim of the work is to describe two cases of PPGSS arisen during a short time period in two family members affected by an acute parvovirus B19 infection found by serum sampling. The peculiarity of the study was the infrequence of the syndrome and the rareness of the description of PPGSS in rheumatology. This syndrome is usually described in dermatology, but it is also interesting for the rheumatologist because it comes in differential diagnosis with various autoimmune diseases.

  13. One for the road! A study to assess the efficacy of single low-dose regimen of rasburicase in controlling hyperuricaemia in patients with tumour lysis syndrome due to haematological malignancies

    OpenAIRE

    Azim, Hamdy A.; Bahr, Sherif Ahmed; Kamal, Nermine Shawky; Koura, Mohamed Adel; Tolba, Rehab; Gad, Heba Abdelmoneem; Morsy, Ahmad; Attia, Hossameldin Mohsen; Iskander, Ibraheem; Hammad, Ahmed; Hemed, Mohammed Farouk; Abdallah, Mohammed Fathy; Sadek, Kareem Ahmed; Taha, Alaa Hamdi

    2013-01-01

    We conducted a retrospective audit of six patients with various haematological malignancies (two acute lymphoblastic leukaemia, one acute myeloid leukaemia, and three non-Hodgkin lymphoma); these patients were eligible to receive rasburicase, being at high risk of development of tumour lysis syndrome (TLS). They received a fixed single low-dose regimen of rasburicase (7.5 mg) mainly due to financial restriction, as patients were not supported by the National Health Service and did not have he...

  14. Value of syndromic surveillance in monitoring a focal waterborne outbreak due to an unusual Cryptosporidium genotype in Northamptonshire, United Kingdom, June - July 2008.

    Science.gov (United States)

    Smith, S; Elliot, A J; Mallaghan, C; Modha, D; Hippisley-Cox, J; Large, S; Regan, M; Smith, G E

    2010-08-19

    The United Kingdom (UK) has several national syndromic surveillance systems. The Health Protection Agency (HPA)/NHS Direct syndromic surveillance system uses pre-diagnostic syndromic data from a national telephone helpline, while the HPA/QSurveillance national surveillance system uses clinical diagnosis data extracted from general practitioner (GP)-based clinical information systems. Data from both of these systems were used to monitor a local outbreak of cryptosporidiosis that occurred following Cryptosporidium oocyst contamination of drinking water supplied from the Pitsford Reservoir in Northamptonshire, United Kingdom, in June 2008. There was a peak in the number of calls to NHS Direct concerning diarrhoea that coincided with the incident. QSurveillance data for the local areas affected by the outbreak showed a significant increase in GP consultations for diarrhoea and gastroenteritis in the week of the incident but there was no increase in consultations for vomiting. A total of 33 clinical cases of cryptosporidiosis were identified in the outbreak investigation, of which 23 were confirmed as infected with the outbreak strain. However, QSurveillance data suggest that there were an estimated 422 excess diarrhoea cases during the outbreak, an increase of about 25% over baseline weekly levels. To our knowledge, this is the first time that data from a syndromic surveillance system, the HPA/QSurveillance national surveillance system, have been able to show the extent of such a small outbreak at a local level. QSurveillance, which covers about 38% of the UK population, is currently the only GP database that is able to provide data at local health district (primary care trust) level. The Cryptosporidium contamination incident described demonstrates the potential usefulness of this information, as it is unusual for syndromic surveillance systems to be able to help monitor such a small-scale outbreak.

  15. Pressure-controlled versus volume-controlled ventilation for acute respiratory failure due to acute lung injury (ALI) or acute respiratory distress syndrome (ARDS).

    Science.gov (United States)

    Chacko, Binila; Peter, John V; Tharyan, Prathap; John, George; Jeyaseelan, Lakshmanan

    2015-01-14

    failure due to acute lung injury or acute respiratory distress syndrome. More studies including a larger number of people given PCV and VCV may provide reliable evidence on which more firm conclusions can be based.

  16. Congenital myasthenic syndrome due to choline acetyltransferase mutations in infants: clinical suspicion and comprehensive electrophysiological assessment are important for early diagnosis.

    Science.gov (United States)

    Dilena, Robertino; Abicht, Angela; Sergi, Paola; Comi, Giacomo P; Di Fonzo, Alessio; Chidini, Giovanna; Natacci, Federica; Barbieri, Sergio; Lochmüller, Hanns

    2014-03-01

    Congenital myasthenic syndromes are inherited disorders caused by various defects in neuromuscular transmission. Although the typical presentation is fatigable weakness with prominent cranial involvement, neonates can lack these hallmark manifestations, and in those with choline acetyltransferase gene mutations, basal electrophysiological testing can yield negative findings. The authors report the case of a male infant presenting at birth with oculomotor and bulbofacial weakness, hypotonia, clubfoot, and severe respiratory insufficiency. Electromyography showed myogenic signs, and basal repetitive nerve stimulation yielded negative findings. Since age 6 months, the infant had progressively improved, acquiring autonomous respiration. Prolonged subtetanic repetitive nerve stimulation disclosed a marked decremental response compatible with suspected congenital myasthenic syndrome with episodic apnea. Genetic testing identified 2 novel choline acetyltransferase mutations (R470X, F580C). Keeping a high clinical suspicion of this rare condition and undertaking early comprehensive electrophysiological assessments including prolonged repetitive nerve stimulation (10 Hz for 5 minutes) can expedite the diagnosis.

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

    Science.gov (United States)

    Balasubramaniam, Shanti; Lewis, B; Mock, D M; Said, H M; Tarailo-Graovac, M; Mattman, A; van Karnebeek, C D; Thorburn, D R; Rodenburg, R J; 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 fulfil the stringent diagnostic criteria but have features resembling Leigh syndrome.We describe a unique presentation of Leigh-like syndrome in a 3-year-old boy with elevated 3-hydroxyisovalerylcarnitine (C5-OH) on newborn screening (NBS). Subsequent persistent plasma elevations of C5-OH and propionylcarnitine (C3) as well as fluctuating urinary markers were suggestive of multiple carboxylase deficiency (MCD). Normal enzymology and mutational analysis of genes encoding holocarboxylase synthetase (HLCS) and biotinidase (BTD) excluded MCD. Biotin uptake studies were normal excluding biotin transporter deficiency. His clinical features at 13 months of age comprised psychomotor delay, central hypotonia, myopathy, failure to thrive, hypocitrullinemia, recurrent episodes of decompensation with metabolic keto-lactic acidosis and an episode of hyperammonemia. Biotin treatment from 13 months of age was associated with increased patient activity, alertness, and attainment of new developmental milestones, despite lack of biochemical improvements. Whole exome sequencing (WES) analysis failed to identify any other variants which could likely contribute to the observed phenotype, apart from the homoplasmic (100%) m.8993T>G variant initially detected by mitochondrial DNA (mtDNA) sequencing.Hypocitrullinemia has been reported in patients with the m.8993T>G variant and other mitochondrial disorders. However, persistent plasma elevations of C3 and C5-OH have previously only been reported in one other patient with this homoplasmic mutation. We suggest considering the m.8993T>G variant early in the diagnostic evaluation of MCD-like biochemical disturbances, particularly when associated with

  18. Partial trisomy due to a de novo duplication 22q11.1-22q13.1: a cat-eye syndrome variant with brain anomalies.

    Science.gov (United States)

    Karcaaltincaba, D; Ceylaner, S; Ceylaner, G; Dalkilic, S; Karli-Oguz, K; Kandemir, O

    2010-01-01

    We report a case of partial trisomy 22q with de novo duplication of chromosomal region 22q11.1-22q13.1, also confirmed by microarray comparative genomic hybridization (Array-CGH) analysis. The fetus had interhemispheric cyst and corpus callosum agenesis diagnosed by MRI which has not been reported in the literature. This novel phenotype differs from the reported cat eye syndromes by the absence of heart defects and the presence of brain anomalies.

  19. 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.

  20. First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure.

    Science.gov (United States)

    Jaspers, Nicolaas G J; Raams, Anja; Silengo, Margherita Cirillo; Wijgers, Nils; Niedernhofer, Laura J; Robinson, Andria Rasile; Giglia-Mari, Giuseppina; Hoogstraten, Deborah; Kleijer, Wim J; Hoeijmakers, Jan H J; Vermeulen, Wim

    2007-03-01

    Nucleotide excision repair (NER) is a genome caretaker mechanism responsible for removing helix-distorting DNA lesions, most notably ultraviolet photodimers. Inherited defects in NER result in profound photosensitivity and the cancer-prone syndrome xeroderma pigmentosum (XP) or two progeroid syndromes: Cockayne and trichothiodystrophy syndromes. The heterodimer ERCC1-XPF is one of two endonucleases required for NER. Mutations in XPF are associated with mild XP and rarely with progeria. Mutations in ERCC1 have not been reported. Here, we describe the first case of human inherited ERCC1 deficiency. Patient cells showed moderate hypersensitivity to ultraviolet rays and mitomycin C, yet the clinical features were very severe and, unexpectedly, were compatible with a diagnosis of cerebro-oculo-facio-skeletal syndrome. This discovery represents a novel complementation group of patients with defective NER. Further, the clinical severity, coupled with a relatively mild repair defect, suggests novel functions for ERCC1.

  1. Yi-gan san for treatment of charles bonnet syndrome (visual hallucination due to vision loss): an open-label study.

    Science.gov (United States)

    Miyaoka, Tsuyoshi; Furuya, Motohide; Kristian, Liaury; Wake, Rei; Kawakami, Kazunori; Nagahama, Michiharu; Kawano, Kiminori; Ieda, Masa; Tsuchie, Keiko; Horiguchi, Jun

    2011-01-01

    Recent studies indicate that the traditional Japanese herbal medicine yi-gan san (YGS, yokukan-san in Japanese) may be safe and useful for treating behavioral and psychological symptoms in dementia, borderline personality disorder, neuroleptic-induced tardive dyskinesia, and treatment-resistant schizophrenia. Visual hallucinations are common and often distressing consequences of vision loss, particularly in age-related macular degeneration. Charles Bonnet syndrome (CBS) is defined by the triad of complex visual hallucinations, ocular pathology causing visual deterioration, and preserved cognitive status. We aimed at evaluating both the efficacy and safety of YGS in patients with CBS. Twenty patients diagnosed with CBS were investigated, according to the diagnostic criteria established by Gold and Rabins and Teunisse. Participants were treated in a 4-week open-label study with YGS at an average daily dose of 5.8 ± 2.6 g (2.5-7.5 g). Psychometric instruments used to assess efficacy included the Neuropsychiatric Inventory, hallucination subscale of the Positive and Negative Syndrome Scale, and Clinical Global Impression. No cases of serious adverse events were attributed to the study's drug therapy. A significant decrease in visual hallucination was observed at 2 and 4 weeks in the Neuropsychiatric Inventory, hallucination subscale of the Positive and Negative Syndrome Scale, and Clinical Global Impression scores. Yi-gan san may be an effective and safe therapy to control visual hallucination in patients with CBS and should be further tested in double-blind, placebo-controlled trials. Given the design characteristics of this trial, the present findings should be taken cautiously.

  2. Silver-Russell syndrome due to paternal H19/IGF2 hypomethylation in a twin girl born after in vitro fertilization.

    Science.gov (United States)

    Cocchi, Guido; Marsico, Concetta; Cosentino, Anita; Spadoni, Chiara; Rocca, Alessandro; De Crescenzo, Agostina; Riccio, Andrea

    2013-10-01

    Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous syndrome characterized by severe intrauterine and postnatal growth retardation, facial dysmorphism and body asymmetry. One of the main molecular mechanisms leading to the syndrome involves methylation abnormalities of chromosome 11p15. In the last decades, an increase of imprinting disorders have been reported in children born from assisted reproductive technology (ART); however there is currently little evidence linking SRS and ART. Only few infants with SRS born using ART, supported by molecular analysis, have been described. We report on a twin-girl conceived using intracytoplasmic sperm injection (ICSI) diagnosed with SRS. Molecular studies revealed a hypomethylation of the paternal H19/IGF2 Imprinting Control Region. Her twin sister had a normal prenatal and postnatal growth and a normal methylation pattern of the chromosome 11p15. This is the second reported case of a twin infant with SRS conceived using ART with hypomethylation of H19/IGF2; it provides additional evidence of a possible relationship between ART procedures and methylation defects observed in SRS. Given the clinical heterogeneity of SRS, and the increased risk of multiple and preterm births in the ART-conceived children, it is possible that a number of cases of SRS remains undiagnosed in this population. Future studies should investigate the possible link between ART and SRS, in order to better understand the causes of epimutations in ART pregnancies, and to help clinicians to adequately counsel parents who approach to ART and to assess the opportunity of a long-term follow-up of children conceived using ART. Copyright © 2013 Wiley Periodicals, Inc.

  3. 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

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    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.

  4. Two-year cyclic infusion of pamidronate improves bone mass density and eliminates risk of fractures in a girl with osteoporosis due to Hajdu-Cheney syndrome.

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    Galli-Tsinopoulou, A; Kyrgios, I; Giza, S; Giannopoulou, E Z; Maggana, I; Laliotis, N

    2012-09-01

    Hajdu-Cheney syndrome (HCS) is a rare disorder principally characterized by acro-osteolysis, distinctive craniofacial and skull changes, dental anomalies and short stature. A common finding in HCS patients is secondary osteoporosis that progresses over time and contributes to various skeletal problems, especially fractures. Although autosomal dominant inheritance has been documented in several families, sporadic (non-familial) cases have also been reported. Here, a case of a 9-year-old girl with familial HCS and multiple spinal fractures, who has been effectively treated with pamidronate, is presented. This is the first report of a beneficial effect of intravenous bisphosphonate administration on a child with HCS-related osteoporosis.

  5. Spontaneous Retroperitoneal Hemorrhage (Wunderlich Syndrome due to Large Upper Pole Renal Angiomyolipoma: Does Robotic-Assisted Laparoscopic Partial Nephrectomy Have a Role in Primary Treatment?

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    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.

  6. 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.

  7. Phelan-McDermid syndrome due toSHANK3mutation in an intellectually disabled adult male: successful treatment with lithium.

    Science.gov (United States)

    Egger, Jos I M; Verhoeven, Willem M A; Groenendijk-Reijenga, Renske; Kant, Sarina G

    2017-09-28

    For 30 years, Phelan and co-workers described a syndrome characterised by neonatal hypotonia, global developmental delay, strongly impaired speech, sleep disturbances and hyperreactivity to sensory stimuli. This Phelan-McDermid syndrome (PMS), also presenting with symptoms from the autism spectrum and a higher risk of developing seizure disorders, may be caused by a deletion of chromosome 22q13 or by a mutation in the SHANK3 gene. Its core psychopathological phenotype comprises symptoms from the bipolar spectrum for which generally treatment with a mood-stabilising anticonvulsant in combination with an atypical antipsychotic seems to be most effective. In addition to two elsewhere published adolescent patients, we here describe in detail the history of an adult male patient with PMS caused by a SHANK3 mutation in whom successive treatment regimens with antipsychotics and mood-stabilising anticonvulsants were all ineffective. Ultimately, addition of lithium to existing olanzapine therapy led to enduring stabilisation of mood and behaviour. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  8. Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy.

    Science.gov (United States)

    Kantarci, Sibel; Ragge, Nicola K; Thomas, N Simon; Robinson, David O; Noonan, Kristin M; Russell, Meaghan K; Donnai, Dian; Raymond, F Lucy; Walsh, Christopher A; Donahoe, Patricia K; Pober, Barbara R

    2008-07-15

    Donnai-Barrow syndrome [Faciooculoacousticorenal (FOAR) syndrome; DBS/FOAR] is a rare autosomal recessive disorder resulting from mutations in the LRP2 gene located on chromosome 2q31.1. We report a unique DBS/FOAR patient homozygous for a 4-bp LRP2 deletion secondary to paternal uniparental isodisomy for chromosome 2. The propositus inherited the mutation from his heterozygous carrier father, whereas the mother carried only wild-type LRP2 alleles. This is the first case of DBS/FOAR resulting from uniparental disomy (UPD) and the fourth published case of any paternal UPD 2 ascertained through unmasking of an autosomal recessive disorder. The absence of clinical symptoms above and beyond the classical phenotype in this and the other disorders suggests that paternal chromosome 2 is unlikely to contain imprinted genes notably affecting either growth or development. This report highlights the importance of parental genotyping in order to give accurate genetic counseling for autosomal recessive disorders. 2008 Wiley-Liss, Inc.

  9. Donnai–Barrow Syndrome (DBS/FOAR) in a Child With a Homozygous LRP2 Mutation Due to Complete Chromosome 2 Paternal Isodisomy

    Science.gov (United States)

    Kantarci, Sibel; Ragge, Nicola K.; Thomas, N. Simon; Robinson, David O.; Noonan, Kristin M.; Russell, Meaghan K.; Donnai, Dian; Raymond, F. Lucy; Walsh, Christopher A.; Donahoe, Patricia K.; Pober, Barbara R.

    2010-01-01

    Donnai–Barrow syndrome [Faciooculoacousticorenal (FOAR) syndrome; DBS/FOAR] is a rare autosomal recessive disorder resulting from mutations in the LRP2 gene located on chromosome 2q31.1. We report a unique DBS/FOAR patient homozygous for a 4-bp LRP2 deletion secondary to paternal uniparental isodisomy for chromosome 2. The propositus inherited the mutation from his heterozygous carrier father, whereas the mother carried only wild-type LRP2 alleles. This is the first case of DBS/FOAR resulting from uniparental disomy (UPD) and the fourth published case of any paternal UPD 2 ascertained through unmasking of an autosomal recessive disorder. The absence of clinical symptoms above and beyond the classical phenotype in this and the other disorders suggests that paternal chromosome 2 is unlikely to contain imprinted genes notably affecting either growth or development. This report highlights the importance of parental genotyping in order to give accurate genetic counseling for autosomal recessive disorders. PMID:18553518

  10. 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.

  11. Gastric outlet obstruction due to adenocarcinoma in a patient with Ataxia-Telangiectasia syndrome: a case report and review of the literature

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    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.

  12. Early Onset Werner Syndrome

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    Berna İmge Aydoğan

    2015-09-01

    Full Text Available Werner syndrome (WS is a rare autosomal recessive adult-onset progeroid disorder characterized by the early onset of aged-appearance and age-related metabolic disorders. Symptoms of premature aging usually first develop in the second-third decades of life. We report a 27-year-old female who was admitted to our clinic at the age of eighteen with hyperglycemia. She was diagnosed with diabetes and type 4 dyslipidemia at the age of seven. In her family history, her parents were first cousins and she had three healthy brothers. On her first physical examination; she had bird-like face appearance, global hair loss, beaked nose, short stature and she was overweight. She had global hair loss with gray and thin hair. Hoarseness of voice and hyperkeratosis of skin were observed. She had bilateral cataracts and moderate sensorineural hearing loss. On psychiatric examination, borderline mental retardation was detected. She had severe insulin resistance and hypertriglyceridemia despite levothyroxine, gemfibrozil, omega-3 and intensive insulin treatment. Routine lipid apheresis was performed to lower the triglyceride levels reaching 5256 mg/dL. She also had focal segmental glomerulosclerosis, hepatosteatosis, osteoporosis and epilepsy. Disease was accompanied by several congenital deformities, such as Rathke’s cleft cyst, angiomyolipoma and femoral neck hypoplasia. WS is a rare genetic disorder characterized by multiple endocrine manifestations as well as soft tissue changes. We present a case of early disturbances that were diagnosed before typical clinical signs and symptoms. We propose that WS should be kept in mind when type 2 diabetes and hyperlipidemia are diagnosed early in childhood. Turk Jem 2015; 19: 99-104

  13. Turner Syndrome

    Science.gov (United States)

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

  14. 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

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    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.

  15. Maternal Perception of Decreased Fetal Movement in One Twin: A Clue Leading to the Early Detection of Absent Variability due to Acute Twin-to-Twin Transfusion Syndrome

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    Hirotada Suzuki

    2013-01-01

    Full Text Available Decreased fetal movement (DFM perceived by pregnant women sometimes indicates imminent fetal jeopardy. It is unknown whether this also holds true for twin pregnancy. A 27-year-old primiparous woman with monochorionic diamniotic (MD pregnancy had a slight difference of amniotic fluid volume at 312/7 weeks of gestation. DFM only in one twin at 314/7 weeks of gestation prompted her to receive urgent consultation. Since cardiotocogram indicated absent variability of one twin, we performed Cesarean section. Male infants weighing 2060 g and 1578 g were delivered; hemoglobin was 20.7 versus 10.8 g/dL, respectively; cardiothoracic ratio was 70% versus 44%, respectively, indicating acute twin-to-twin transfusion syndrome (TTTS. The recipient infant had heart failure, which was still observed at 1 month postpartum. In conclusion, maternal perception of DFM indicated imminent fetal death or jeopardy caused by acute TTTS, suggesting that education regarding DFM for women with twin pregnancy may be clinically important.

  16. Plasmapheresis-induced Clinical Improvement in a Patient with Steroid-Resistant Nephrotic Syndrome Due to Podocin (NPHS2 Gene Station

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    Sylva Skálová

    2010-01-01

    Full Text Available Podocin mutations (NPHS2 gene are mostly responsible for steroid-resistant nephrotic syndrome (SRNS of childhood onset. Patients with NPHS2 gene mutations do not respond to corticoids and other immunosuppressive agents; partial remission can be rarely induced by cyclosporin A. We present a boy, where SRNS was diagnosed within first year of life. By the age of 15 years, proteinuria reached 9000 mg/24 h, cholesterolemia 15 mmol/L, albuminemia 19.6 g/L, in spite of combined therapy with cyclosporine A, methylprednisolone, enalapril and losartan. At that time a combined heterozygous form of two NPHS2 gene mutations (p.R138Q and p.V290M was diagnosed, methylprednisolone was discontinued and patient underwent ten plasmapheresis procedures. This resulted in clinical improvement (proteinuria 3000 mg/24 h, S-cholesterol 6 mmol/L, albumin 30g/L lasting for three years. In conclusion, plasmapheresis can result in clinical improvement and stabilization of SRNS caused by podocine mutation, before renal replacement therapy is initiated.

  17. Cockayne Syndrome due to a maternally-inherited whole gene deletion of ERCC8 and a paternally-inherited ERCC8 exon 4 deletion.

    Science.gov (United States)

    Ting, T W; Brett, M S; Tan, E S; Shen, Y; Lee, S P; Lim, E C; Vasanwala, R F; Lek, N; Thomas, T; Lim, K W; Tan, E C

    2015-11-10

    Cockayne Syndrome (CS) is an autosomal recessive disorder that causes neurological regression, growth failure and dysmorphic features. We describe a Chinese female child with CS caused by deletions of exon 4 of ERCC8 on one chromosome and exons 1-12 on the other chromosome. By using chromosomal microarray, multiplex ligation-dependant probe analysis and long range PCR, we showed that she inherited a 277 kb deletion affecting the whole ERCC8 gene from the mother and a complex rearrangement resulting in deletion of exon 4 together with a 1,656 bp inversion of intron 4 from the father. A similar complex rearrangement has been reported in four unrelated Japanese CS patients. Analysis of the deletion involving exon 4 identified LINE and other repeat elements that may predispose the region to deletions, insertions and inversions. The patient also had insulin-dependent diabetes mellitus, a rare co-existing feature in patients with CS. More research will be needed to further understand the endocrine manifestations in CS patients. Copyright © 2015 Elsevier B.V. All rights reserved.

  18. Recurrent atypical haemolytic uraemic syndrome post kidney transplant due to a CD46 mutation in the setting of SMARCAL1-mediated inherited kidney disease.

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    Chan, Samuel; Mallett, Andrew J; Patel, Chirag; Francis, Ross S; Johnson, David W; Mudge, David W; Isbel, Nicole M

    2017-02-01

    Disorders in the regulation of the alternate complement pathway often result in complement-mediated damage to the microvascular endothelium and can be associated with both glomerulonephritis and atypical haemolytic uraemic syndrome. Inherited defects in complement regulatory genes or autoantibodies against complement regulatory proteins are predictive of the severity of the disease and the risk of recurrence post kidney transplantation. Heterozygous mutations in CD46, which codes for a transmembrane cofactor glycoprotein membrane cofactor protein, usually have a lower incidence of end-stage kidney disease and decreased risk of recurrent disease post transplant, as wild-type membrane cofactor protein is present in the transplanted kidney. However, some patients with CD46 mutations have a second variant in other complement regulatory genes increasing the severity of disease. The following case report illustrates the course of a young adult patient with end-stage kidney disease initially ascribed to seronegative systemic lupus erythematosus, who presented with biopsy-proven thrombotic microangiopathy following kidney transplantation. It highlights the complexity associated with disorders of complement regulation and the need for a high index of suspicion and genetic testing in patients who present with thrombotic microangiopathy post-transplant. © 2017 Asian Pacific Society of Nephrology.

  19. Tolvaptan use in cancer patients with hyponatremia due to the syndrome of inappropriate antidiuretic hormone: a post hoc analysis of the SALT-1 and SALT-2 trials.

    Science.gov (United States)

    Gralla, Richard J; Ahmad, Fatima; Blais, Jaime D; Chiodo, Joseph; Zhou, Wen; Glaser, Linda A; Czerwiec, Frank S

    2017-04-01

    Hyponatremia is a common electrolyte disorder in cancer patients and has been associated with poor prognosis. A frequent cause of cancer-related hyponatremia is the syndrome of inappropriate antidiuretic hormone (SIADH). This study was a post hoc subgroup analysis of the SALT-1 (Study of Ascending Levels of Tolvaptan in Hyponatremia) and SALT-2 clinical trials. Hyponatremic subjects with SIADH and cancer received the oral selective vasopressin V2-receptor antagonist tolvaptan (n = 12) or matching placebo (n = 16) once-daily for 30 days. The initial tolvaptan dose (15 mg) was titrated over 4 days to 30 or 60 mg per day, as needed, according to serum sodium level and tolerability. Baseline serum sodium levels in the SIADH/cancer cohort of the SALT trials was 130 and 128 mEq/L for tolvaptan and placebo, respectively. Mean change from baseline in average daily serum sodium AUC for tolvaptan relative to placebo was 5.0 versus -0.3 mEq/L (P post hoc study of the SALT trial population, oral tolvaptan was an effective and safe therapy for the treatment of hyponatremia in subjects with SIADH and cancer. © 2016 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.

  20. Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation.

    Science.gov (United States)

    Nagasaki, Keisuke; Asami, Tadashi; Sato, Hidetoshi; Ogawa, Yohei; Kikuchi, Toru; Saitoh, Akihiko; Ogata, Tsutomu; Fukami, Maki

    2014-03-01

    Floating-Harbor syndrome (FHS) is a rare autosomal dominant disorder characterized by short stature, skeletal malformations, speech delay, and dysmorphic facial appearance. Recently, mutations in SRCAP encoding a coactivator for cAMP-response element binding protein (CREB)-binding protein have been identified in small number of patients with FHS. Here, we report on long-term follow-up data of a male patient with a SRCAP mutation. The patient presented with mild hypothyroidism and renal hypouricemia, in addition to several FHS-compatible features including growth impairment, cognitive disability, facial dysmorphisms, and hypertension. He showed delayed bone age from infancy to 9 years of age and markedly accelerated bone age with the formation of cone-shaped epiphyses and early epiphysial fusions after the onset of puberty. His pubertal sexual development was almost age appropriate. Two-year treatment with growth hormone (GH) did not significantly improve the growth velocity. Molecular analysis identified a de novo heterozygous nonsense mutation (p.R2444X) in the last exon of SRCAP, which has been most common mutation detected in patients from other ethnic groups. These results indicate that perturbed skeletal maturation from infancy through adolescence is a characteristic feature in patients with SRCAP mutations. Furthermore, our data imply that GH therapy exerted only a marginal effect on the growth of this patient, and that renal hypouricemia may be a novel complication of FHS. © 2013 Wiley Periodicals, Inc.

  1. Jacobsen syndrome due to an unbalanced translocation between 11q23 and 22q11.2 identified at age 40 years.

    Science.gov (United States)

    Takahashi, Ikuko; Takahashi, Tsutomu; Sawada, Kenichi; Shimojima, Keiko; Yamamoto, Toshiyuki

    2012-01-01

    A woman with psychomotor developmental delay, congenital glaucoma, and distinctive facial features, and a short neck was diagnosed with Jacobsen syndrome (JBS) at age 40 years. A previously reported balanced translocation between chromosome 11 and 22 instead showed an unbalanced translocation by a microarray-based comparative hybridization analysis with the final karyotype of 46,XX,der(11)t(11;22)(q23.3;q11.21),del(22)(q11.21) dn. The breakpoint of chromosome 11 was determined to be at TECTA and not near the apolipoprotein gene cluster site or the fragile site (FRA11B), which are commonly seen in patients with t(11;22) and patients with typical 11q deletions, respectively. Although the phenotypic features of the patient, including psychomotor developmental delay, distinctive features, and mild thrombocytopenia, were consistent with JBS, congenital glaucoma, which is an uncommon finding of JBS, was the most prominent condition during her natural history. Copyright © 2011 Wiley Periodicals, Inc.

  2. Cockayne syndrome: review of 25 cases.

    Science.gov (United States)

    Ozdirim, E; Topçu, M; Ozön, A; Cila, A

    1996-11-01

    Clinical and laboratory findings of 25 patients with classical Cockayne syndrome (CS) are reviewed. A history of consanguinity was present in 21 patients, and 15 patients had at least 1 affected sibling. Apart from the cardinal features of dwarfism, microcephaly, and mental retardation, the most consistent clinical features included photosensitivity (84%), gait disturbances (84%), progeroid appearance (84%), and ocular abnormalities (88%). The most consistent laboratory findings comprised abnormal nerve conduction (slowed conduction in 13 of the 16 cases with an ENMG), and an abnormal brainstem auditory evoked response (BAER) and/or audiometry (abnormal in 13 of the 17 cases in whom either one of them were available). Cerebral atrophy and calcification of the basal ganglia were the next more common laboratory findings. Clinical criteria are useful in most instances in the diagnosis of CS. In patients in whom the clinical features are controversial for a diagnosis of Cockayne syndrome, studies directed to disorders of myelination involving both peripheral and central nervous systems in conjunction with audiometry may aid in the diagnosis.

  3. Insulin resistance in adolescents with Turner syndrome is comparable to obese peers, but the overall metabolic risk is lower due to unknown mechanism.

    Science.gov (United States)

    Wojcik, M; Janus, D; Zygmunt-Gorska, A; Starzyk, J B

    2015-03-01

    An increased risk of insulin resistance, hypertension and liver dysfunction is related to obesity (Ob), but may be also present in normal-weight Turner syndrome (TS) patients. The aim of the study was to compare metabolic risk in adolescents with TS and Ob. The study included 21 non-obese with TS (all receiving human recombinant growth hormone, 17/21 estrogen/estrogen-progesterone), and 21 age-matched Ob girls (mean age 13.9 years). Glucose and serum insulin levels were assessed fasting and in 120' of standard oral glucose tolerance test. Levels of triglycerides (TG), total cholesterol (TC), low-density lipoprotein (LDL) and high-density lipoprotein (HDL) cholesterol, alanine aminotransferase (ALT), FGF19, FGF21 and FGF23 levels were measured fasting. Mean BMI SDS was significantly lower in TS patients (0.1 vs 4.8 SD, p insulin (14.97 vs 17.19 and 69.3 vs 98.78 μIU/mL) levels, HOMA-IR (3.02 vs 3.4), TC (4.05 vs 4.4 mmol/L), TG (1.25 vs 1.37 mmol/L), ALT (26.9 vs 28.3 IU/L), FGF19 (232.8 vs 182.7 pg/mL), and FGF23 (12.3 vs 17.5 pg/mL) levels. Mean LDL (2.05 vs 2.7 mmol/L, p = 0.003) and FGF21 (293.9 vs 514.7 pg/mL, p = 0.007) levels were significantly lower, and HDL (1.7 vs 1.2 mmol/L, p Insulin resistance in adolescents with TS on growth hormone treatment is comparable to Ob patients, but overall metabolic risk factors seem to be lower.

  4. 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

  5. Cost-effectiveness of exercise therapy after corticosteroid injection for moderate to severe shoulder pain due to subacromial impingement syndrome: a trial-based analysis.

    Science.gov (United States)

    Jowett, Sue; Crawshaw, Dickon P; Helliwell, Philip S; Hensor, Elizabeth M A; Hay, Elaine M; Conaghan, Philip G

    2013-08-01

    To perform a cost-effectiveness analysis of subacromial corticosteroid injection combined with exercise compared with exercise alone in patients with moderate to severe shoulder pain from subacromial impingement syndrome. A within-trial cost-effectiveness analysis with 232 patients randomized to physiotherapy-led injection combined with exercise (n = 115) or exercise alone (n = 117). The analysis was from a health care perspective with 24-week follow-up. Resource use information was collected from all patients on interventions, medication, primary and secondary care contacts, private health care use and over-the-counter purchases. The measure of outcome was quality-adjusted life years (QALYs), calculated from EQ-5D responses at baseline and three further time points. An incremental cost-effectiveness analysis was conducted. Mean per patient NHS costs (£255 vs £297) and overall health care costs (£261 vs £318) were lower in the injection plus exercise arm, but this difference was not statistically significant. Total QALYs gained were very similar in the two trial arms (0.3514 vs 0.3494 QALYs), although slightly higher in the injection plus exercise arm, indicating that injection plus exercise may be the dominant treatment option. At a willingness to pay of £20,000 per additional QALY gained, there was a 61% probability that injection plus exercise was the most cost-effective option. Injection plus exercise delivered by therapists may be a cost-effective use of resources compared with exercise alone and lead to lower health care costs and less time off work. International Standard Randomised Controlled Trial Number Register, http://www.controlled-trials.com/isrctn/, ISRCT 25817033.

  6. Real-life experience of tolvaptan use in the treatment of severe hyponatraemia due to syndrome of inappropriate antidiuretic hormone secretion.

    Science.gov (United States)

    Tzoulis, Ploutarchos; Waung, Julian A; Bagkeris, Emmanouil; Carr, Helen; Khoo, Bernard; Cohen, Mark; Bouloux, Pierre Marc

    2016-04-01

    European guidelines do not recommend tolvaptan for treatment of syndrome of inappropriate antidiuretic hormone secretion (SIADH), principally owing to concerns about risk of overly rapid correction of hyponatraemia. This study evaluated the real-life effectiveness and safety of tolvaptan. Consecutive case series. Inpatients treated with tolvaptan for SIADH in 2 UK hospitals over a 3-year period. The primary outcome measures were serum sodium (sNa) correction at 24 and 48 h after tolvaptan therapy. This case series included 61 patients aged 74·4 ± 15·3 years with (mean ± SD) sNa 119·9 ± 5·5 mmol/l. The mean sNa increase 24 h after tolvaptan initiation was 9 ± 3·9 mmol/l. Excessive correction of hyponatraemia was observed in 23% of patients with all these patients having baseline sNa tolvaptan therapy, sNa increase was 13·5 ± 5·9 mmol/l with 96·7% of patients having sNa increase ≥5 mmol/l in 48 h. There was a negative significant correlation (P = 0·012) between baseline sNa and 24-h change; for every 1 mmol/l reduction in baseline value, sNa increased by an additional 0·23 mmol/l (95% CI 0·05-0·41). Tolvaptan is effective in correcting hyponatraemia. Without rigorous electrolyte monitoring, tolvaptan carries a significant risk of overly rapid sodium correction, especially in patients with starting sNa Tolvaptan should be used with great caution under close electrolyte monitoring. © 2015 John Wiley & Sons Ltd.

  7. 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.

  8. 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

  9. A due

    DEFF Research Database (Denmark)

    to acknowledge the excellence of these two scholars by a double Festschrift, "A due". Both have been working at the Music Department of the University of Copenhagen and have collaborated with The Royal Library on various projects. This publication contains contributions from 44 colleagues, who thus - in topics...

  10. Interstitial Lung Disease in Werner Syndrome: A Case Report of a 55-Year-Old Male Patient

    Directory of Open Access Journals (Sweden)

    Tiphaine Goletto

    2015-01-01

    Full Text Available Werner syndrome (WS is a progeroid or premature aging syndrome characterized by early onset of age-related pathologies and cancer. The average life expectancy of affected people is 52.8 years and tends to increase. The major causes of death are malignancy and myocardial infarction. Increased telomere attrition and decay are thought to play a causative role in the clinical and pathological manifestations of the disease. Although telomere length, with or without germline mutation, is known to be associated with interstitial lung disease, the latter is not associated with WS. To the best of our knowledge, we report the first case describing a WS patient with fatal ILD. This case suggests that older patients with WS could develop ILD. Clinical outcome of WS patients may thus be improved by counselling them regarding smoking cessation or other exposure and by proposing antifibrotic therapy.

  11. Efficacy and safety of two doses of Norditropin® (somatropin) in short stature due to Noonan syndrome: a 2-year randomized, double-blind, multicenter trial in Japanese patients.

    Science.gov (United States)

    Ozono, Keiichi; Ogata, Tsutomu; Horikawa, Reiko; Matsubara, Yoichi; Ogawa, Yoshihisa; Nishijima, Keiji; Yokoya, Susumu

    2017-11-07

    This randomized double-blind multicenter trial (NCT01927861) evaluated the growth-promoting effect and safety of Norditropin® (NN220; somatropin) in Japanese children with short stature due to Noonan syndrome. Prepubertal children aged 3-<11 years (boys) or 3-<10 years (girls) with Noonan syndrome were randomized to receive GH 0.033 mg/kg/day (n = 25, mean age 6.57 years, 11 females) or 0.066 mg/kg/day (n = 26, mean age 6.06 years, eight females) for 104 weeks. Change in height standard deviation score (HSDS) from baseline was analyzed based on an ANCOVA model. Baseline HSDS was -3.24. Estimated change in HSDS [95% CI] after 104 weeks' treatment was 0.84 [0.66, 1.02] and 1.47 [1.29, 1.64] for the lower and higher doses, respectively; estimated mean difference 0.63 [0.38, 0.88], p < 0.0001. Rates and patterns of adverse events (AEs) were similar between groups. Most were mild and reported as unlikely to be related to Norditropin®. There were no withdrawals due to AEs. Insulin-like growth factor-I SDS increased from -1.71 to -0.64 (0.033 mg/kg/day) and to 0.63 (0.066 mg/kg/day). HbA1c increased slightly (0.033 mg/kg/day: +0.14%; 0.066 mg/kg/day: +0.13%); glucose profiles were almost unchanged; insulin profiles increased in both groups in the oral glucose tolerance test. There were no clinically significant abnormal electrocardiogram or echocardiography findings. We conclude that Norditropin® at doses of 0.033 mg/kg/day or 0.066 mg/kg/day for 104 weeks increases height in Japanese children with short stature due to Noonan syndrome, with a favorable safety profile. The effect was greater with 0.066 mg/kg/day compared with 0.033 mg/kg/day.

  12. 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

  13. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine; Bødtger, Uffe; Heltberg, Ole

    2014-01-01

    Lemierre's syndrome is an often un-diagnosed disease seen in previously healthy young subjects, presenting with symptoms of pharyngitis, fever and elevated markers of inflammation. The syndrome is characterised by infectious thrombosis of the jugular vein due to infection with Fusobacteria, causing...... a variety of infectious complications. Rapid diagnosis and treatment is necessary to avoid severe complications or death. Close collaboration with local microbiologist is pivotal. Treatment consists of longterm treatment with penicillin and metronidazole. This is a case report of Lemierre's syndrome....

  14. Lethal neonatal Hutchinson-Gilford progeria syndrome.

    Science.gov (United States)

    Rodríguez, J I; Pérez-Alonso, P; Funes, R; Pérez-Rodríguez, J

    1999-01-29

    We report on a 35-week gestation female fetus with Hutchinson-Gilford progeria (HGP). This patient, who is the first reported with neonatal HGP in the English literature but is the fourth, counting three previous French cases, supports the existence of a more severe prenatal form of progeria. She died 7 hours after birth and presented with intrauterine growth retardation, premature aging, absence of subcutaneous fat, brachydactyly, absent nipples, hypoplastic external genitalia, and abnormal ear lobes. The child's combination of clinical and skeletal manifestations differentiates this form of HGP from other progeroid syndromes with neonatal presentation. We also report previously undescribed autopsy findings including premature loss of hair follicles, premature regression of the renal nephrogenic layer, and premature closure of the growth plates in the distal phalanges that may be related to the aging processes in this condition. We could not find any histological data to support acro-osteolysis, which is the radiographic sign of brachydactyly. The terminal phalanges in HGP seem to be underdeveloped rather than osteolytic.

  15. Choreic syndrome due to Hashimoto's encephalopathy.

    Science.gov (United States)

    Taurin, Gregory; Golfier, Véronique; Pinel, Jean-François; Deburghgraeve, Véronique; Poirier, Jean-Yves; Edan, Gilles; Vérin, Marc

    2002-09-01

    We report on the instructive case of an elderly woman who became encephalopathic and concurrently developed chorea. Thyroid antibody studies were abnormal. She responded extremely well to oral corticosteroids. Copyright 2002 Movement Disorder Society

  16. Cushing's syndrome during pregnancy

    NARCIS (Netherlands)

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

    1990-01-01

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

  17. Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.

    Science.gov (United States)

    Ben Yaou, Rabah; Navarro, Claire; Quijano-Roy, Susana; Bertrand, Anne T; Massart, Catherine; De Sandre-Giovannoli, Annachiara; Cadiñanos, Juan; Mamchaoui, Kamel; Butler-Browne, Gillian; Estournet, Brigitte; Richard, Pascale; Barois, Annie; Lévy, Nicolas; Bonne, Gisèle

    2011-06-01

    Mutation in ZMPSTE24 gene, encoding a major metalloprotease, leads to defective prelamin A processing and causes type B mandibuloacral dysplasia, as well as the lethal neonatal restrictive dermopathy syndrome. Phenotype severity is correlated with the residual enzyme activity of ZMPSTE24 and accumulation of prelamin A. We had previously demonstrated that a complete loss of function in ZMPSTE24 was lethal in the neonatal period, whereas compound heterozygous mutations including one PTC and one missense mutation were associated with type B mandibuloacral dysplasia. In this study, we report a 30-year longitudinal clinical survey of a patient harboring a novel severe and complex phenotype, combining an early-onset progeroid syndrome and a congenital myopathy with fiber-type disproportion. A unique homozygous missense ZMPSTE24 mutation (c.281T>C, p.Leu94Pro) was identified and predicted to produce two possible ZMPSTE24 conformations, leading to a partial loss of function. Western blot analysis revealed a major reduction of ZMPSTE24, together with the presence of unprocessed prelamin A and decreased levels of lamin A, in the patient's primary skin fibroblasts. These cells exhibited significant reductions in lifespan associated with major abnormalities of the nuclear shape and structure. This is the first report of MAD presenting with confirmed myopathic abnormalities associated with ZMPSTE24 defects, extending the clinical spectrum of ZMPSTE24 gene mutations. Moreover, our results suggest that defective prelamin A processing affects muscle regeneration and development, thus providing new insights into the disease mechanism of prelamin A-defective associated syndromes in general.

  18. Serotonin syndrome

    Science.gov (United States)

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

  19. Hunter's Syndrome

    African Journals Online (AJOL)

    GB

    disorder due to deficiency of the lysosomal enzyme iduronate-2-sulfatase with patients rarely living till adulthood. Failure to identify ... case report. CASE DETAILS: An eight year old patient with Hunter's syndrome identified five years after disease onset with severe .... mitral valve prolapse with severe regurgitation, moderate ...

  20. Caracterización de cultivos celulares derivados de pacientes con síndrome progeroide neonatal, un nuevo modelo para el estudio de procesos relacionados con el envejecimiento humano / Progeroid neonatal syndrome fibroblast characterization, a new model for studying aging human related processes

    OpenAIRE

    Ramírez Suárez, Nelson Javier

    2009-01-01

    El síndrome de Wiedemann-Rautenstrauch (SWR) es un desorden genético raro caracterizado por un envejecimiento prematuro neonatal, deficiencia de la capa de grasa subcutánea; piel delgada, frágil y arrugada y en la mayoría de los casos el deceso sucede durante los primeros meses de vida. La etiología del SWR es desconocida, aunque diferentes autores están de acuerdo en un patrón de herencia autosómico recesivo de la anomalía genética responsable. Estudios de ligamiento recientes en otro síndro...

  1. 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

  2. Coenzyme Q10 deficiency in myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is related to fatigue, autonomic and neurocognitive symptoms and is another risk factor explaining the early mortality in ME/CFS due to cardiovascular disorder.

    Science.gov (United States)

    Maes, Michael; Mihaylova, Ivanka; Kubera, Marta; Uytterhoeven, Marc; Vrydags, Nicolas; Bosmans, Eugene

    2009-01-01

    Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a medical illness characterized by disorders in inflammatory and oxidative and nitrosative (IO&NS) pathways. This paper examines the role of Coenzyme Q10 (CoQ10), a mitochondrial nutrient which acts as an essential cofactor for the production of ATP in mitochondria and which displays significant antioxidant activities. Plasma CoQ10 has been assayed in 58 patients with ME/CFS and in 22 normal controls; the relationships between CoQ10 and the severity of ME/CFS as measured by means of the FibroFatigue (FF) scale were measured. Plasma CoQ10 was significantly (p=0.00001) lower in ME/CFS patients than in normal controls. Up to 44.8% of patients with ME/CFS had values beneath the lowest plasma CoQ10 value detected in the normal controls, i.e. 490 microg/L. In ME/CFS, there were significant and inverse relationships between CoQ10 and the total score on the FF scale, fatigue and autonomic symptoms. Patients with very low CoQ10 (ME/CFS and that symptoms, such as fatigue, and autonomic and neurocognitive symptoms may be caused by CoQ10 depletion. Our results suggest that patients with ME/CFS would benefit from CoQ10 supplementation in order to normalize the low CoQ10 syndrome and the IO&NS disorders. The findings that lower CoQ10 is an independent predictor of chronic heart failure (CHF) and mortality due to CHF may explain previous reports that the mean age of ME/CFS patients dying from CHF is 25 years younger than the age of those dying from CHF in the general population. Since statins significantly decrease plasma CoQ10, ME/CFS should be regarded as a relative contraindication for treatment with statins without CoQ10 supplementation.

  3. Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review.

    Science.gov (United States)

    Colombi, Marina; Dordoni, Chiara; Venturini, Marina; Zanca, Arianna; Calzavara-Pinton, Piergiacomo; Ritelli, Marco

    2017-02-01

    Classical Ehlers-Danlos syndrome (cEDS) is a rare connective tissue disorder primarily characterized by hyperextensible skin, defective wound healing, abnormal scars, easy bruising, and generalized joint hypermobility; arterial dissections are rarely observed. Mutations in COL5A1 and COL5A2 encoding type V collagen account for more than 90% of the patients so far characterized. In addition, cEDS phenotype was reported in a small number of patients carrying the c.934C>T mutation in COL1A1 that results in an uncommon substitution of a non-glycine residue in one Gly-Xaa-Yaa repeat of the pro-α1(I)-chain p.(Arg312Cys), which leads to disturbed collagen fibrillogenesis due to delayed removal of the type I procollagen N-propeptide. This specific mutation has been associated with propensity to arterial rupture in early adulthood; indeed, in literature the individuals harboring this mutation are also referred to as "(classic) vascular-like" EDS patients. Herein, we describe a three-generation cEDS family with six adults carrying the p.(Arg312Cys) substitution, which show a variable and prevalent cutaneous involvement without any major vascular event. These data, together with those available in literature, suggest that vascular events are not a diagnostic handle to differentiate patients with the p.(Arg312Cys) COL1A1 mutation from those with COL5A1 and COL5A2 defects, and highlight that during the diagnostic process the presence of at least the p.(Arg312Cys) substitution in COL1A1 should be investigated in cEDS patients without type V collagen mutations. Nevertheless, for these patients, as well as for those affected with cEDS, a periodical vascular surveillance should be carried out together with cardiovascular risk factors monitoring. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  4. What is the risk of death or severe harm due to bone cement implantation syndrome among patients undergoing hip hemiarthroplasty for fractured neck of femur? A patient safety surveillance study

    Science.gov (United States)

    Rutter, Paul D; Panesar, Sukhmeet S; Darzi, Ara; Donaldson, Liam J

    2014-01-01

    Objective To estimate the risk of death or severe harm due to bone cement implantation syndrome (BCIS) among patients undergoing hip hemiarthroplasty for fractured neck of femur. Setting Hospitals providing secondary and tertiary care throughout the National Health Service (NHS) in England and Wales. Participants Cases reported to the National Reporting and Learning System (NRLS) in which the reporter clearly describes severe acute patient deterioration associated with cement use in hip hemiarthroplasty for fractured neck of femur (assessed independently by two reviewers). Outcome measures Primary—number of reported deaths, cardiac arrests and periarrests per year. Secondary—timing of deterioration and outcome in relation to cement insertion. Results Between 2005 and 2012, the NRLS received 62 reports that clearly describe death or severe harm associated with the use of cement in hip hemiarthroplasty for fractured neck of femur. There was one such incident for every 2900 hemiarthroplasties for fractured neck of femur during the period. Of the 62 reports, 41 patients died, 14 were resuscitated from cardiac arrest and 7 from periarrest. Most reports (55/62, 89%) describe acute deterioration occurring during or within a few minutes of cement insertion. The vast majority of deaths (33/41, 80%) occurred on the operating table. Conclusions These reports provide narrative evidence from England and Wales that cement use in hip hemiarthroplasty for fractured neck of femur is associated with instances of perioperative death or severe harm consistent with BCIS. In 2009, the National Patient Safety Agency publicised this issue and encouraged the use of mitigation measures. Three-quarters of the deaths in this study have occurred since that alert, suggesting incomplete implementation or effectiveness of those mitigation measures. There is a need for stronger evidence that weighs the risks and benefits of cement in hip hemiarthroplasty for fractured neck of femur. PMID

  5. When a death apparently associated to sexual assault is instead a natural death due to idiopathic hypereosinophilic syndrome: The importance of gamma-hydroxybutyric acid analysis in vitreous humor.

    Science.gov (United States)

    Busardò, Francesco Paolo; Portelli, Francesca; Montana, Angelo; Rotolo, Maria Concetta; Pichini, Simona; Maresi, Emiliano

    2017-05-01

    We here report a case involving a 21-year-old female, found dead in a central square of a city in the south of Italy. Initial evidences and circumstances were suggestive of a death associated with a sexual assault. Two peripheral blood and two vitreous humor samples were collected for the purpose of gamma-hydroxybutyric acid (GHB) testing from the dead body at two different post-mortem intervals (PMIs): approximately 2 (t0) and 36 (t1) hours. The obtained results showed that, between t0 and t1, there was an increase of GHB concentrations in peripheral blood and vitreous humor of 66.3% and 8.1%, respectively. This case was the first evidence of GHB post mortem production in a dead body and not in vitro, showing that vitreous humor is less affected than peripheral blood in GHB post-mortem production. The value detected at t1 in peripheral blood (53.4µg/mL) exceeded the proposed cut-off and if interpreted alone would have led to erroneous conclusions. This was not the case of vitreous humor GHB, whose post-mortem increase was minimal and it allowed to exclude a GHB exposure. Only after a broad forensic investigation including a complete autopsy, serological, histological, toxicological and haematology analyses, a diagnosis of idiopathic hypereosinophilic syndrome, a myeloproliferative disorder characterized by persistent eosinophilia associated with damage to multiple organs, was made and the cause of death was due to a pulmonary eosinophilic vasculitis responsible for an acute respiratory failure. Copyright © 2017 Elsevier B.V. All rights reserved.

  6. 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.

  7. The epidemiology of premature aging and associated comorbidities

    National Research Council Canada - National Science Library

    Coppedè, Fabio

    2013-01-01

    Hutchinson-Gilford Progeria Syndrome and Werner syndrome, also known as childhood- and adulthood-progeria, respectively, represent two of the best characterized human progeroid diseases with clinical...

  8. Exophthalmos in Cushing's syndrome.

    Science.gov (United States)

    Kelly, W

    1996-08-01

    Exophthalmos was noted in 4 of the 12 patients reported by Harvey Cushing in 1932. Although exophthalmos has often been included in clinical descriptions, no previous study has reported actual measurements in patients with active and treated Cushing's syndrome, and in control patients. The aim of this study was to obtain these measurements. Thirty-one patients with active Cushing's syndrome (19 iatrogenic), 15 with treated Cushing's syndrome, 18 with Graves' ophthalmopathy, 59 control patients, and 3 patients with active Cushing's syndrome plus a family or personal history of thyroid disease. A consecutive series of patients with active and treated Cushing's syndrome were assessed. They were compared with patients with Graves' ophthalmopathy, and with control patients. Exophthalmos was assessed by the author using a Hertel meter. Urinary free cortisol was measured on patients with Cushing's syndrome, and serum thyroxine was estimated for them, and for the patients with Graves' ophthalmopathy. Exophthalmos exceeding 16 mm (> 2 SD above normal mean) was found in 45% of active Cushing's syndrome, 21% of iatrogenic Cushing's syndrome, 20% of treated Cushing's syndrome, 2% of normal controls, and 77% of patients with Graves' ophthalmopathy. No patient with Cushing's syndrome had significant symptoms due to exophthalmos. Patients with active Cushing's syndrome have statistically significant exophthalmos. This rarely causes symptoms, and diminishes when cortisol concentrations become normal. Cushing's syndrome and autoimmune thyroid disease may coexist in patients with exophthalmos.

  9. Cushing syndrome

    Science.gov (United States)

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

  10. Eagle's Syndrome

    Directory of Open Access Journals (Sweden)

    Pinheiro, Thaís Gonçalves

    2014-01-01

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

  11. Prenatal and postnatal investigation of a case with Miller-Dieker syndrome due to a familial cryptic translocation t(17;20) (p13.3;q13.3) detected by fluorescence in situ hybridization

    NARCIS (Netherlands)

    vanZelderenBhola, SL; BreslauSiderius, EJ; Beverstock, GC; StolteDijkstra, [No Value; DeVries, LS; DePater, JM

    We present here a case report of a fetus with a kidney anomaly and dilated occipital horns, detected initially by echoscopy at 29 weeks' amenorrhoea. After 31 weeks of gestation, the proband was born with clinical symptoms of Miller-Dieker syndrome. This was subsequently confirmed by fluorescence in

  12. The unfavorable effects of concomitant asthma and sleeplessness due to the atopic eczema/dermatitis syndrome (AEDS) on quality of life in subjects allergic to house-dust mites

    NARCIS (Netherlands)

    Terreehorst, [No Value; Duivenvoorden, HJ; Tempels-Pavlica, Z; Oosting, AJ; de Monchy, JGR; Bruijnzeel-Koomen, CAFM; Post, MWM; Gerth van Wijk, R

    2002-01-01

    Background: Allergic rhinitis, asthma or the atopic eczema/dermatitis syndrome (AEDS) may independently impair quality of life in patients. However, although many allergic patients may suffer from more than one disorder, the effect of concomitant disease - in particular, the impact of AEDS - is

  13. Pre-Menstrual Syndrome in Women with Down Syndrome

    Science.gov (United States)

    Mason, Linda; Cunningham, Cliff

    2009-01-01

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

  14. [PATHOPHYSIOLOGY OF THE CARDIORENAL SYNDROME].

    Science.gov (United States)

    Balint, I; Vučak, J; Bašić-Marković, N; Klarić, D; Šakić, V Amerl

    2016-12-01

    Cardiorenal syndrome, a complex pathophysiological disorder of both the heart and kidneys, is a condition in which acute or chronic damage to one organ can lead to acute or chronic dysfunction of the other organ. Depending on primary organ dysfunction and disease duration, there are five different types of cardiorenal syndrome. Type 1 cardiorenal syndrome (acute cardiorenal syndrome) is defined as acute kidney injury caused by sudden decrease in heart function. Type 2 cardiorenal syndrome (chronic cardiorenal syndrome) refers to chronic kidney disease linked to chronic heart failure. Type 3 cardiorenal syndrome (acute renocardial syndrome) is caused by acute kidney injury that leads to heart failure. Type 4 cardiorenal syndrome (chronic renocardial syndrome) includes chronic heart failure due to chronic kidney disease. Type 5 cardiorenal syndrome (secondary cardiorenal syndrome) is reversible or irreversible condition marked by simultaneous heart and kidney insufficiency, as a result of multiorgan disease such as sepsis, diabetes mellitus, sarcoidosis, amyloidosis, etc. The pathophysiological patterns of cardiorenal syndrome are extremely complicated. Despite numerous publications, perplexed physiological, biochemical and hormonal disturbances as parts of the main pathogenic mechanisms of cardiorenal syndrome remain obscure. Even though there are guidelines for the treatment of patients with heart failure and chronic kidney disease, similar guidelines for the treatment of cardiorenal syndrome are lacking. In everyday practice, it is crucial to diagnose cardiorenal syndrome and use all diagnostic and therapeutic procedures available to prevent or alleviate kidney and heart failure.

  15. Miller–Fisher syndrome

    Directory of Open Access Journals (Sweden)

    Anna Vladimirovna Kraeva

    2013-01-01

    Full Text Available Miller–Fisher syndrome is a rare variant of acute inflammatory demyelinating polyneuropathy. The paper describes a case of Miller–Fisher syndrome developing as ophthalmoplegia, ataxia, and areflexia one week after acute respiratory viral infection. Within 3 weeks, neurological disorders completely regressed due to a plasmapheresis session and intravenous immunoglobulin injection.

  16. Duane Syndrome

    Science.gov (United States)

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

  17. Síndrome de reconstitución inmune por BCG en niños tratados por VIH Immune reconstitution syndrome due to BCG in HIV-treated children

    Directory of Open Access Journals (Sweden)

    Edwin Miranda-Choque

    2012-12-01

    Full Text Available El objetivo del estudio fue describir el perfil clínico del síndrome de reconstitución inmune por Mycobacterium bovis Bacillus Calmette-Guérin (SIRI-BCG en niños con infección VIH que reciben tratamiento antirretroviral de gran actividad (TARGA en el Instituto Nacional de Salud del Niño de Lima, Perú. Se realizó un estudio de serie de casos, que incluyó ocho niños con SIRI-BCG, definido como la presencia de linfadenopatía regional o inflamación en sitio de inoculación de BCG con disminución de al menos un logaritmo en la carga viral o mejoría inmunológica. Todos los pacientes tenían estadio SIDA (C3. La mediana de edad de inicio del TARGA fue de 7,2 meses y el evento se produjo entre 3 a 11 semanas luego de haberlo iniciado. En siete casos se produjo adenitis axilar. Al comparar con el grupo sin SIRI-BCG se encontró asociación significativa con la edad de inicio del TARGA de un año, estado de inmunodepresión severa, y carga viral incrementada. Se concluye que el SIRI-BCG está relacionado con una rápida progresión clínica de la infección VIH/SIDA de trasmisión vertical, estadio de inmunosupresión severa, y carga viral alta al momento del inicio del TARGA.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

  18. Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective.

    Science.gov (United States)

    Cau, Pierre; Navarro, Claire; Harhouri, Karim; Roll, Patrice; Sigaudy, Sabine; Kaspi, Elise; Perrin, Sophie; De Sandre-Giovannoli, Annachiara; Lévy, Nicolas

    2014-05-01

    Lamin A-related progeroid syndromes are genetically determined, extremely rare and severe. In the past ten years, our knowledge and perspectives for these diseases has widely progressed, through the progressive dissection of their pathophysiological mechanisms leading to precocious and accelerated aging, from the genes mutations discovery until therapeutic trials in affected children. A-type lamins are major actors in several structural and functional activities at the nuclear periphery, as they are major components of the nuclear lamina. However, while this is usually poorly considered, they also play a key role within the rest of the nucleoplasm, whose defects are related to cell senescence. Although nuclear shape and nuclear envelope deformities are obvious and visible events, nuclear matrix disorganization and abnormal composition certainly represent the most important causes of cell defects with dramatic pathological consequences. Therefore, lamin-associated diseases should be better referred as laminopathies instead of envelopathies, this later being too restrictive, considering neither the key structural and functional roles of soluble lamins in the entire nucleoplasm, nor the nuclear matrix contribution to the pathophysiology of lamin-associated disorders and in particular in defective lamin A processing-associated aging diseases. Based on both our understanding of pathophysiological mechanisms and the biological and clinical consequences of progeria and related diseases, therapeutic trials have been conducted in patients and were terminated less than 10 years after the gene discovery, a quite fast issue for a genetic disease. Pharmacological drugs have been repurposed and used to decrease the toxicity of the accumulated, unprocessed and truncated prelaminA in progeria. To date, none of them may be considered as a cure for progeria and these clinical strategies were essentially designed toward reducing a subset of the most dramatic and morbid features

  19. Hamartomatous polyposis syndromes

    DEFF Research Database (Denmark)

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

    2014-01-01

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

  20. Testicular dysgenesis syndrome

    DEFF Research Database (Denmark)

    Skakkebaek, N E; Rajpert-De Meyts, E; Main, K M

    2001-01-01

    summarizes existing evidence supporting a new concept that poor semen quality, testis cancer, undescended testis and hypospadias are symptoms of one underlying entity, the testicular dysgenesis syndrome (TDS), which may be increasingly common due to adverse environmental influences. Experimental...

  1. [Moebius syndrome: case report].

    Science.gov (United States)

    Fontenelle, L; Araujo, A P; Fontana, R S

    2001-09-01

    In the last few years we have been able to diagnose a larger number of cases of Moebius syndrome, perhaps due to its increased incidence--since a number of environmental factors have been related to the genesis of the syndrome. Out of the cases evaluated in two specialized ambulatory, it is worthwhile to mention one of them due to an uncommon association with cortical heterotopy, among others malformations.

  2. Mowat-Wilson syndrome

    DEFF Research Database (Denmark)

    Engenheiro, E; Møller, R S; Pinto, M

    2008-01-01

    Mowat-Wilson syndrome (MWS) is an autosomal dominant developmental disorder with mental retardation and variable multiple congenital abnormalities due to mutations of the ZEB2 (ZFHX1B) gene at 2q22. MWS was first described in 1998 and the causative gene was delineated in 2001. Since then, 115...... different mutations of ZEB2 have been published in association with this syndrome in 161 individuals. However, recent reports suggest that due to the variability of the congenital abnormalities, this syndrome may still be underdiagnosed. We report two unrelated patients with MWS where the clinical diagnosis...

  3. A neuropathological study of early onset Cockayne syndrome with chromosomal anomaly 47XXX.

    Science.gov (United States)

    Hayashi, M; Hayakawa, K; Suzuki, F; Sugita, K; Satoh, J; Morimatsu, Y

    1992-01-01

    We present the clinical and neuropathological findings in a female patient with early onset Cockayne syndrome and a chromosomal anomaly (47XXX). The girl was the only child of healthy, unrelated parents. She was born with a birth weight of 1,930 gm. She had progeroid facial features with bilateral cataracts. A diagnosis of 47XXX was made on the basis of a chromosomal study. Physical shortness became increasingly prominent while her weight remained stationary. Psychomotor retardation was noted, and she could never sit alone. A brain CT scan showed cerebral atrophy and calcification of the basal ganglia. Cultured skin fibroblast exhibited significant sensitivity to the ultraviolet light. She died from a chest infection at the age of 7 years and 4 months. Microscopically, the renal glomeruli showed diffuse sclerotic changes with thick capillary basement membranes. A neuropathological examination revealed a very small brain (295 gm), extensive myelin deficiency, gliosis in the white matter, and calcifications in the basal ganglia, and cerebral and cerebellar cortices. The loss of both Purkinje and granular cells was noticed in the cerebellar cortex. This is the first report of a case with the Cockayne syndrome and 47XXX, and the 47XXX in this patient seems to be coincidental.

  4. Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica

    Directory of Open Access Journals (Sweden)

    Ariana Kariminejad

    2017-03-01

    Full Text Available Cutis laxa is a heterogeneous condition characterized by redundant, sagging, inelastic, and wrinkled skin. The inherited forms of this disease are rare and can have autosomal dominant, autosomal recessive, or X-linked inheritance. Three of the autosomal recessive cutis laxa syndromes, namely cutis laxa IIA (ARCL2A, cutis laxa IIB (ARCL2B, and geroderma osteodysplastica (GO, have very similar clinical features, complicating accurate diagnosis. Individuals with these conditions often present with cutis laxa, progeroid features, and hyperextensible joints. These conditions also share additional features, such as short stature, hypotonia, and congenital hip dislocation, but the severity and frequency of these findings are variable in each of these cutis laxa syndromes. The characteristic features for ARCL2A are abnormal isoelectric focusing and facial features, including downslanting palpebral fissures and a long philtrum. Rather, the clinical phenotype of ARCL2B includes severe wrinkling of the dorsum of the hands and feet, wormian bones, athetoid movements, lipodystrophy, cataract and corneal clouding, a thin triangular face, and a pinched nose. Normal cognition and osteopenia leading to pathological fractures, maxillary hypoplasia, and oblique furrowing from the outer canthus to the lateral border of the supraorbital ridge are discriminative features for GO. Here we present 10 Iranian patients who were initially diagnosed clinically using the respective features of each cutis laxa syndrome. Each patient’s clinical diagnosis was then confirmed with molecular investigation of the responsible gene. Review of the clinical features from the cases reported from the literature also supports our conclusions.

  5. 46,XY DSD with Female or Ambiguous External Genitalia at Birth due to Androgen Insensitivity Syndrome, 5-Reductase-2 Deficiency, or 17-Hydroxysteroid Dehydrogenase Deficiency: A Review of Quality of Life Outcomes

    Directory of Open Access Journals (Sweden)

    Mazur Tom

    2009-08-01

    Full Text Available Disorders of sex development refer to a collection of congenital conditions in which atypical development of chromosomal, gonadal, or anatomic sex occurs. Studies of 46,XY DSD have focused largely on gender identity, gender role, and sexual orientation. Few studies have focused on other domains, such as physical and mental health, that may contribute to a person's quality of life. The current review focuses on information published since 1955 pertaining to psychological well-being, cognition, general health, fertility, and sexual function in people affected by androgen insensitivity syndromes, 5- reductase-2 deficiency, or 17-hydroxysteroid dehydrogenase-3 deficiency—reared male or female. The complete form of androgen insensitivity syndrome has been the focus of the largest number of investigations in domains other than gender. Despite this, all of the conditions included in the current review are under-studied. Realms identified for further study include psychological well-being, cognitive abilities, general health, fertility, and sexual function. Such investigations would not only improve the quality of life for those affected by DSD but may also provide information for improving physical and mental health in the general population.

  6. Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification.

    Science.gov (United States)

    Cervantes-Barragán, David E; Villarroel, Camilo E; Medrano-Hernández, Alma; Durán-McKinster, Carola; Bosch-Canto, Vanessa; Del-Castillo, Victoria; Nazarenko, Irina; Yang, Amy; Desnick, Robert J

    2011-10-01

    The focal facial dermal dysplasias (FFDDs) are a group of inherited disorders of facial development, characterised by bitemporal or preauricular scar-like defects, the former resembling 'forceps marks'. Recently, different homozygous TWIST2 nonsense mutations were reported in unrelated Setleis syndrome (FFDD Type III) patients from consanguineous families, consistent with autosomal recessive inheritance. Mexican-Nahua sibs with facial and ophthalmologic features of FFDD type III were evaluated. Genomic DNAs were isolated for sequencing of the TWIST2 gene. The clinical features and inheritance of all previously reported FFDD patients were reviewed. The affected sibs were homozygous for a novel TWIST2 frameshift mutation, c.168delC (p.S57AfsX45). Notably, both parents and two heterozygous sibs had distichiasis and partial absence of lower eyelashes. The FFDD subtypes were reclassified: the 'Brauer-Setleis' phenotype (autosomal dominant with variable expressivity) as FFDD type II; and patients with preauricular lesions as a new subtype, FFDD type IV. FFDD type III heterozygotes with TWIST2 mutations may have syndromic manifestations. Review of previous FFDD patients resulted in reclassification of the subtypes.

  7. [Dependency syndrome].

    Science.gov (United States)

    Vuorisalo, Sailaritta

    2013-01-01

    The most common causes of lower limb edema include cardiac insufficiency, venous insufficiency, insufficiency of lymph flow, and side effects of drugs. It can also be due to dependency syndrome, in which the edema and skin changes can only be explained by a passive calf muscle pump and the resulting venous hypertension. Underlying the drop foot is always immobilization for one reason or other. The patient must be given an explanation about the situation, activated to move if possible, and in any case guided to the use of support stockings and postural therapy.

  8. Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome

    Science.gov (United States)

    Cartault, François; Munier, Patrick; Jacquemont, Marie-Line; Vellayoudom, Jeannine; Doray, Bérénice; Payet, Christine; Randrianaivo, Hanitra; Laville, Jean-Marc; Munnich, Arnold; Cormier-Daire, Valérie

    2015-01-01

    First described as a variant of Larsen syndrome in Reunion Island (LRS) in the southern Indian Ocean, ‘Larsen of Reunion Island syndrome' is characterized by dwarfism, hyperlaxity, multiple dislocations and distinctive facial features. It overlaps with Desbuquois dysplasia, Larsen syndrome and spondyloepiphyseal dysplasia with dislocations ascribed to CANT1, FLNB and CHST3 mutations, respectively. We collected the samples of 22 LRS cases. After exclusion of CANT1, FLNB and CHST3 genes, an exome sequencing was performed in two affected second cousins and one unaffected sister. We identified a homozygous missense mutation in B4GALT7, NM_007255.2: c.808C>T p.(Arg270Cys) named p.R270C, in the two affected cases, not present in the unaffected sister. The same homozygous mutation was subsequently identified in the remaining 20 LRS cases. Our findings demonstrate that B4GALT7 is the causative gene for LRS. The identification of a unique homozygous mutation argues in favor of a founder effect. B4GALT7 encodes a galactosyltransferase, required for the initiation of glycoaminoglycan side chain synthesis of proteoglycans. This study expands the phenotypic spectrum of B4GALT7 mutations, initially described as responsible for the progeroid variant of Ehlers–Danlos syndrome. It further supports a common physiopathological basis involving proteoglycan synthesis in skeletal disorders with dislocations. PMID:24755949

  9. Ophthalmoplegia, Dysphonia and Tetraparesis Due to Guillain ...

    African Journals Online (AJOL)

    Guillain-Barre's syndrome (GBS) or inflammatory/post-infectious acute polyradiculoneuropathy is due to demyelination of nerves, causing a progressive paresis or paralysis. It usually begins in the legs and sometimes goes up to the respiratory muscles and cranial nerves. The exact mechanism of GBS occurrance is still ...

  10. Williams syndrome

    Science.gov (United States)

    A support group can be helpful for emotional support and for giving and receiving practical advice. The following organization provides additional information about Williams Syndrome: Williams Syndrome Association -- www.williams-syndrome.org

  11. WIEDEMANN SYNDROME

    African Journals Online (AJOL)

    hi-tech

    BILATERAL BENIGN HAEMORRHAGIC ADRENAL CYSTS IN BECKWITH - WIEDEMANN. SYNDROME: CASE REPORT. P. ANOOP and M. A. ANJAY. SUMMARY. Beckwith-Wiedemann syndrome is the most common overgrowth malformation syndrome. The classical features include macrosomia, macroglossia, ...

  12. Marfan Syndrome

    Science.gov (United States)

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

  13. Brown Syndrome

    Science.gov (United States)

    ... extraction) have also been linked to acquired Brown syndrome. Inflammation of the tendon-trochlea complex (from adult and juvenile rheumatoid arthritis, systemic lupus erythematosus and sinusitis) can be ... syndrome hereditary? Hereditary cases of Brown syndrome are rare. ...

  14. Asperger Syndrome

    Science.gov (United States)

    ... Page You are here Home » Disorders » All Disorders Asperger Syndrome Information Page Asperger Syndrome Information Page What research is being done? ... Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Asperger syndrome (AS) is a developmental disorder. It is ...

  15. Paradoxical immune reconstitution inflammatory syndrome due to toxoplasmic encephalitis: two cases and review of initiation of antiretroviral timing in toxoplasmic encephalitis IRIS [v1; ref status: indexed, http://f1000r.es/zd

    Directory of Open Access Journals (Sweden)

    Andrew R DiNardo

    2013-05-01

    Full Text Available Toxoplasma encephalitis immune reconstitution inflammatory syndrome (TE-IRIS is rare and usually occurs in an unmasking, rather than paradoxical form. To the best of our knowledge, only two cases of paradoxical TE-IRIS and nine cases of unmasking TE-IRIS have been previously described. We present two additional cases of histopathology-consistent paradoxical TE-IRIS, after early initiation of antiretroviral therapy (ART, and review the literature on TE-IRIS. Three of the four reported cases of paradoxical TE-IRIS were associated with early (within one week initiation of ART, an issue that was not addressed in the 2009 US Department of Health and Human Services guidelines for the treatment of opportunistic infections.

  16. Choque séptico puerperal por Streptococcus β-hemolítico e síndrome de Waterhouse-Friderichsen Puerperal septic shock due to β-hemolytic Streptococcus and Waterhouse-Friderichsen syndrome

    Directory of Open Access Journals (Sweden)

    Stanley de Almeida Araújo

    2009-02-01

    Full Text Available É relatado caso excepcional de puérpera de 15 anos com choque séptico pelo Streptococcus beta-hemolítico do grupo A e síndrome de Waterhouse-Friderichsen, observado à necropsia. São revistos aspectos do diagnóstico, patogênese e evolução da infecção (sepse puerperal associada à hemorragia e insuficiência das supra-renais.An exceptional case of a 15-year-old puerpera with septic shock caused by Group A β-hemolytic Streptococcus and Waterhouse-Friderichsen syndrome is reported. The findings were observed at the necropsy. The characteristics of the diagnosis, pathogenesis and evolution of this puerperal infection (sepsis, associated with adrenal hemorrhage and insufficiency are reviewed in this paper.

  17. Duplication 5q and deletion 9p due to a t(5;9)(q34;p23) in 2 cousins with features of Hunter-McAlpine syndrome and hypothyroidism.

    Science.gov (United States)

    Vásquez-Velásquez, A I; García-Castillo, H A; González-Mercado, M G; Dávalos, I P; Raca, G; Xu, X; Dwyer, E; Rivera, H

    2011-01-01

    We report on 2 similarly affected cousins with a compound imbalance resulting from a familial t(5;9)(q34;p23) and entailing both an ∼17-Mb 5q terminal duplication and an ∼12-Mb 9p terminal deletion as determined by G-banding, subtelomere FISH, and aCGH. The proband's karyotype was 46,XX,der(9)t(5;9)(q34;p23)mat.ish der(9)t(5;9)(q34;p23)(9pter-,5qter+).arr 5q34q35(163,328,000-180,629,000)×3, 9p24p23(194,000-12,664,000)×1. Her cousin had the same unbalanced karyotype inherited from his father. The clinical phenotype mainly consists of a distinct craniofacial dysmorphism featuring microcephaly, flat facies, down slanting palpebral fissures, small flat nose, long philtrum, and small mouth with thin upper lip. Additional remarkable findings were craniosynostosis of several sutures, craniolacunia and preaxial polydactyly in the proband and hypothyroidism in both subjects. The observed clinical constellation generally fits the phenotypic spectrum of the 5q distal duplication syndrome (known also as Hunter-McAlpine syndrome), except for the thyroid insufficiency which can likely be ascribed to the concurrent 9p deletion, as at least 4 other 9pter monosomic patients without chromosome 5 involvement had this hormonal disorder. The present observation further confirms the etiology of the HMS phenotype from gain of the 5q35→qter region, expands the clinical pictures of partial trisomy 5q and monosomy 9p, and provides a comprehensive list of 160 patients with 5q distal duplication. Copyright © 2010 S. Karger AG, Basel.

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

    NARCIS (Netherlands)

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

    2016-01-01

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

  19. DOWN SYNDROME WITH MOYAMOYA SYNDROME

    National Research Council Canada - National Science Library

    Mohan Makwana; R. K. Vishnoi; Jai Prakash Soni; Kapil Jetha; Suresh Kumar Verma; Pradeep Singh Rathore; Monika Choudhary

    2017-01-01

    ...,” in which the arterial changes are seen among patients with various syndromes or other disease processes- Down syndrome, sickle cell anaemia, neurofibromatosis type-1, congenital heart disease...

  20. Ocular masquerade syndrome due to intraocular lymphoma - two forms of retinal pigment epithelium involvement: case reports Síndrome ocular mascarada devido linfoma intra-ocular: relato de casos

    Directory of Open Access Journals (Sweden)

    Miguel Hage Amaro

    2007-06-01

    Full Text Available Ocular masquerade syndrome was diagnosted in two patients with chronic uveitis. The patients presented non-Hodgkin's lymphoma as the final diagnosis two forms of intraocular retinal pigment epithelium involvement was seen. One case was flecks of the retinal pigment epithelium and another case was a solid retinal pigment epithelium detachment. These unusual presentations of non-Hodgkin's lymphoma is an alert to all involved in lymphoma care.Os autores apresentam dois casos de pacientes com linfoma não-Hodgkin, diagnosticados inicialmente como uveite crônica de etiologia não determinada. Os exames posteriores a partir da presença de outros sinais e sintomas demonstraram a presença de linfoma não-Hodgkin nestes pacientes. Um dos pacientes apresentava "flecks" ao nível do epitélio pigmentar da retina e o outro paciente apresentava descolamento sólido do epitélio pigmentar da retina. Estas formas de envolvimento do epitélio pigmentar da retina não são usuais em linfoma não-Hodgkin.

  1. Recurrent Miller Fisher syndrome.

    Science.gov (United States)

    Madhavan, S; Geetha; Bhargavan, P V

    2004-07-01

    Miller Fisher syndrome (MFS) is a variant of Guillan Barre syndrome characterized by the triad of ophthalmoplegia, ataxia and areflexia. Recurrences are exceptional with Miller Fisher syndrome. We are reporting a case with two episodes of MFS within two years. Initially he presented with partial ophthalmoplegia, ataxia. Second episode was characterized by full-blown presentation characterized by ataxia, areflexia and ophthalmoplegia. CSF analysis was typical during both episodes. Nerve conduction velocity study was fairly within normal limits. MRI of brain was within normal limits. He responded to symptomatic measures initially, then to steroids in the second episode. We are reporting the case due to its rarity.

  2. NIJMEGEN BREAKAGE SYNDROME

    Directory of Open Access Journals (Sweden)

    M. Y. Kagan

    2012-01-01

    Full Text Available Nijmegen breakage syndrome (NBS is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, dysmorphic facial features, combined immunodeficiency and predisposition to malignancies. Due to a founder mutation in the underlying NBN gene (c.657_661del5 the disease is encountered most frequently among Slavic populations. We report on a patient with NBS complicated acute leukemia.

  3. Jacobsen syndrome.

    Science.gov (United States)

    Mattina, Teresa; Perrotta, Concetta Simona; Grossfeld, Paul

    2009-03-07

    Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears). Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from approximately 7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia) and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be very severe

  4. Jacobsen syndrome

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    Grossfeld Paul

    2009-03-01

    Full Text Available Abstract Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears. Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from ~7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be

  5. Kindler syndrome

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    Kaviarasan P

    2005-01-01

    Full Text Available Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma. The differential diagnosis of Kindler syndrome includes diseases like Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. Our patient had classical cutaneous features of Kindler syndrome with phimosis as a complication.

  6. Tratamento endovascular da síndrome da aorta média causada por arterite de Takayasu: relato de caso Endovascular treatment of the middle aortic syndrome due to Takayasu’s arteritis: case report

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    Felipe Nasser

    2009-12-01

    Full Text Available Síndrome da aorta média (SAM é uma condição clínica caracterizada por estenose segmentar ou difusa da aorta, hipertensão arterial e claudicação de membros inferiores. A principal causa da SAM é a arterite de Takayasu. A estenose segmentar pode estar localizada na aorta suprarrenal, renal ou infrarrenal e com alta propensão de lesões estenóticas concomitantes das artérias renais e viscerais. A gravidade da hipertensão arterial é a principal indicação para o tratmento. A técnica endovascular para o tratamento da síndrome da aorta média tem bons resultados e é a menos invasiva. No presente artigo, é descrito o tratamento com sucesso de uma estenose da aorta toracoabdominal com recanalização da artéria mesentérica superior através de angioplastia em uma mulher de 34 anos portadora de arterite de Takayasu e hipertensão arterial grave.Middle aortic syndrome (MAS is a clinical condition characterized by segmental or diffuse narrowing of the aorta, hypertension, and lower limb claudication. The main cause of MAS is Takayasu’s arteritis. Segmental aortic stenosis may be located at the suprarenal, renal or infrarenal aorta with high tendency to concomitant stenosis in both the renal and visceral arteries. Severity of hypertension is the primary indication for intervention. Endovascular therapy is a minimally invasive treatment for MAS and may provide good results. In the present report, we describe a successful endovascular treatment of stenosis of the thoracoabdominal aorta with recanalization of the superior mesenteric artery using angioplasty in a 34-year-old woman with Takaysu’s arteritis and severe hypertension.

  7. Granulomatous myelitis associated with hemorrhagic syndrome due to consumption of Vicia villosa by cattle Mielite granulomatosa associada à síndrome hemorrágica devido ao consumo de Vicia villosa em um bovino

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    Luciana Sonne

    2010-08-01

    Full Text Available An unusual case of spontaneous Vicia villosa poisoning affected a 6-year-old Holstein cow. Although the most striking findings included a generalized hemorrhagic condition associated with granulomatous myelitis, histological lesions typically seen with the vetch-associated systemic granulomatous syndrome were also present. Prominent gross findings were bloody nasal and oral discharges, disseminated hemorrhages, and bloody feces. Generalized hemorrhages associated with infiltration of numerous organs by lymphocytes, plasma cells, macrophages, multinucleated giants cells, and eosinophils were the main microscopic findings. Anti-CD68 immunostaining confirmed the presence of moderate histiocytic infiltrate and multinucleated giant cells in the bone marrow. These changes in the bone marrow probably caused the generalized hemorrhagic changes described here.Um bovino Holandês de seis anos naturalmente intoxicado pela Vicia villosa apresentou lesões não comumente encontradas nessa intoxicação. Embora a lesão mais evidente fosse hemorragia generalizada associada à mielite granulomatosa, as lesões granulomatosas típicas da intoxicação pela ervilhaca também estavam presentes histologicamente. Os principais achados macroscópicos foram hemorragias nasal e oral, hemorragias generalizadas e fezes com sangue. Lesões hemorrágicas generalizadas associadas com infiltrado inflamatório de linfócitos, plasmócitos, macrófagos, células gigantes multinucleadas e eosinófilos foram os principais achados microscópicos encontrados. O teste imuno-histoquímico anti-CD68 confirmou a presença de infiltrado moderado de macrófagos e de células gigantes multinucleadas na medula óssea. As alterações na medula óssea provavelmente constituem a causa da hemorragia generalizada descrita nesse caso.

  8. Impaired genome maintenance suppresses the growth hormone--insulin-like growth factor 1 axis in mice with Cockayne syndrome.

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    Ingrid van der Pluijm

    2007-01-01

    Full Text Available Cockayne syndrome (CS is a photosensitive, DNA repair disorder associated with progeria that is caused by a defect in the transcription-coupled repair subpathway of nucleotide excision repair (NER. Here, complete inactivation of NER in Csb(m/m/Xpa(-/- mutants causes a phenotype that reliably mimics the human progeroid CS syndrome. Newborn Csb(m/m/Xpa(-/- mice display attenuated growth, progressive neurological dysfunction, retinal degeneration, cachexia, kyphosis, and die before weaning. Mouse liver transcriptome analysis and several physiological endpoints revealed systemic suppression of the growth hormone/insulin-like growth factor 1 (GH/IGF1 somatotroph axis and oxidative metabolism, increased antioxidant responses, and hypoglycemia together with hepatic glycogen and fat accumulation. Broad genome-wide parallels between Csb(m/m/Xpa(-/- and naturally aged mouse liver transcriptomes suggested that these changes are intrinsic to natural ageing and the DNA repair-deficient mice. Importantly, wild-type mice exposed to a low dose of chronic genotoxic stress recapitulated this response, thereby pointing to a novel link between genome instability and the age-related decline of the somatotroph axis.

  9. Genetic mapping of putative Chrna7 and Luzp2 neuronal transcriptional enhancers due to impact of a transgene-insertion and 6.8 Mb deletion in a mouse model of Prader-Willi and Angelman syndromes

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    Longnecker Richard

    2005-11-01

    Full Text Available Abstract Background Prader-Willi and Angelman syndrome (PWS and AS patients typically have an ~5 Mb deletion of human chromosome 15q11-q13, of opposite parental origin. A mouse model of PWS and AS has a transgenic insertion-deletion (TgPWS/TgAS of chromosome 7B/C subsequent to paternal or maternal inheritance, respectively. In this study, we define the deletion endpoints and examine the impact on expression of flanking genes. Results Using molecular and cytological methods we demonstrate that 13 imprinted and 11 non-imprinted genes are included in the TgPWS/TgAS deletion. Normal expression levels were found in TgPWS brain for genes extending 9.1- or 5.6-Mb centromeric or telomeric of the deletion, respectively. Our molecular cytological studies map the proximal deletion breakpoint between the Luzp2 and Siglec-H loci, and we show that overall mRNA levels of Luzp2 in TgPWS and TgAS brain are significantly reduced by 17%. Intriguingly, 5' Chrna7 shows 1.7-fold decreased levels in TgPWS and TgAS brain whereas there is a ≥15-fold increase in expression in neonatal liver and spleen of these mouse models. By isolating a Chrna7-Tg fusion transcript from TgAS mice, we mapped the telomeric deletion breakpoint in Chrna7 intron 4. Conclusion Based on the extent of the deletion, TgPWS/TgAS mice are models for PWS/AS class I deletions. Other than for the first gene promoters immediately outside the deletion, since genes extending 5.6–9.1 Mb away from each end of the deletion show normal expression levels in TgPWS brain, this indicates that the transgene array does not induce silencing and there are no additional linked rearrangements. Using gene expression, non-coding conserved sequence (NCCS and synteny data, we have genetically mapped a putative Luzp2 neuronal enhancer responsible for ~33% of allelic transcriptional activity. The Chrna7 results are explained by hypothesizing loss of an essential neuronal transcriptional enhancer required for ~80% of

  10. Cardiorenal syndrome

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    Sabry Omar

    2013-01-01

    Full Text Available Cardiovascular disease is the leading cause of death in patients with chronic kidney disease.  Heart failure may lead to acute kidney injury and vice versa. Chronic kidney disease may affect the clinical outcomes in patients with cardiovascular disorders. Renal impairment with any degree of albuminuria has been increasingly recognized as an independent risk factor for cardiovascular events and heart failure hospitalizations, while chronic heart failure may cause chronic kidney disease. The bidirectional nature of these disorders contributes to the complexity and the composite definitions of cardiorenal syndromes. However, the most important clinical trials in heart failure tend to exclude patients with significant renal dysfunction. The mechanisms whereby renal insufficiency worsens the outcome in heart failure are not known, and several pathways could contribute to the ‘‘vicious heart/kidney circle.’’ Traditionally, renal impairment has been attributed to the renal hypoperfusion due to reduced cardiac output and decreased systemic pressure. The hypovolemia leads to sympathetic activity, increased renin-angiotensin aldosterone pathway, and arginine-vasopressin release. These mechanisms cause fluid and sodium retention, peripheral vasoconstriction, and volume overload. Therapy to improve renal dysfunction, reduce neurohormonal activation and ameliorate renal blood flow could lead to a reduction in mortality and hospitalization in patients with cardiorenal syndrome.

  11. Melatonin alterations and brain acetylcholine lesions in sleep disorders in Cockayne syndrome.

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    Okoshi, Yumi; Tanuma, Naoyuki; Miyata, Rie; Hayashi, Masaharu

    2014-11-01

    Cockayne syndrome (CS) is a genetic disorder caused by deficient nucleotide excision repair. Patients with CS exhibit progeroid features, developmental delay, and various neurological disorders; they are also known to suffer from sleep problems, which have never been investigated in detail. The aim of this study is to investigate the pathogenesis of sleep disorders in patients with CS. We performed a questionnaire survey of the families of patients with CS, enzyme-linked immunosorbent analyses of the melatonin metabolite, 6-sulphatoxymelatonin (6-SM), in the patients' urine, and immunohistochemistry in the hypothalamus, the basal nucleus of Meynert (NbM), and the pedunculopontine tegmental nucleus (PPN) in four autopsy cases. Sleep-wakefulness rhythms were disturbed in patients with CS, and these disturbances seemed to be related to a reduced urinary excretion of 6-SM. In addition, although the hypothalamic nuclei were comparatively preserved, acetylcholine neurons (AchNs) were severely decreased in the NbM and PPN. AchNs modulate both arousal and rapid eye movement sleep, and selective lesions of AchNs in the PPN and/or NbM in combination with disturbed melatonin metabolism might be involved in the sleep disorders in CS. Copyright © 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  12. Down syndrome, RASopathies, and other rare syndromes.

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    Kratz, Christian P; Izraeli, Shai

    2017-04-01

    In this article we discuss the occurrence of myeloid neoplasms in patients with a range of syndromes that are due to germline defects of the RAS signaling pathway and in patients with trisomy 21. Both RAS mutations and trisomy 21 are common somatic events contributing to leukemogenis. Thus, the increased leukemia risk observed in children affected by these conditions is biologically highly plausible. Children with myeloid neoplasms in the context of these syndromes require different treatments than children with sporadic myeloid neoplasms and provide an opportunity to study the role of trisomy 21 and RAS signaling during leukemogenesis and development. Copyright © 2017 Elsevier Inc. All rights reserved.

  13. HEPATORENAL SYNDROME

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    Matjaž Hafner

    2001-12-01

    Full Text Available Background. Hepatorenal syndrome (HRS is acommon complication of advanced hepatic disease characterizedby marked abnormalities in arterial circulation and byrenal failure. An extreme arteriolar vasodilatation located inthe splanchnic circulation results in a reduction of total systemicvascular resistence and arterial hypotension. Vasoconstrictionoccurs in the renal circulation as in all other extrasplanchnicvascular territories. In the kidney, marked renalvasoconstriction results in a low glomerular filtration rate.Conclusions. The diagnosis of HRS is currently based on exclusionof other causes of renal failure. Prognosis of patientswith HRS is very poor. Liver transplantation is the best therapeuticoption, but it is seldom applicable due to the short survivalexpectancy of most patients with HRS, particularly thosewith the rapidly progressive type of HRS. New therapies developedduring the last few years, such as the use of systemicvasoconstrictors or transjugular intrahepatic portosystemicshunts (TIPS appear promising. Such treatments are of interestnot only as a bridge to liver transplantation but also as atherapy for patients who are not candidates for transplantation.

  14. Seminar on Usher's Syndrome: Proceedings.

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    Rochester School for the Deaf, NY.

    Summarized are the presentation of M. Vernon and the Comments of primary panelists from a seminar on Usher's Syndrome, a genetic disease involving congenital deafness and progressive loss of vision due to retinitis pigmentosa. The following topics are addressed: genetics today, nature of Usher's Syndrome, symptoms, prevalence, lay diagnosis for…

  15. Usher's Syndrome: A 1986 Update.

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    Baechle, Cathy L.; Rittenhouse, Robert K.

    The authors describe personal experiences with Usher's Syndrome, a condition involving visual impairment (due to Retinitis Pigmentosa) and deafness. Prevalence and onset of Usher's Syndrome are described along with characteristics of two different types. Problems connected with diagnosis are reviewed, including genetic aspects and the progressive…

  16. Rhupus syndrome: a case report.

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    Akpinar, Yesim; Yalcin, Ülker Karagece

    2017-09-01

    Rhupus syndrome is a rare overlap syndrome that can be observed together with systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). We report the case of a young male patient diagnosed with SLE due to new skin findings and also diagnosed with RA 3 years earlier.

  17. Neurocysticercosis presenting as Millard Gubler syndrome

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    Rajniti Prasad

    2012-01-01

    Full Text Available Neurocysticercosis is a common childhood neurological illness in India. A variety of presentations have been reported in the literature, including weber syndrome. Neurocysticercosis, manifesting as Millard Gubler syndrome, have not been reported in literature. Therefore, we report a child presented to us with Millard Gubler syndrome due to pontomedullary neurocysticercosis and was treated successfully.

  18. The Marfan syndrome genetics

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    Galina Pungerčič

    2005-05-01

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

  19. Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3A due to an hnRNP H-disrupting mutation in congenital myasthenic syndrome.

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    Bian, Yang; Masuda, Akio; Matsuura, Tohru; Ito, Mikako; Okushin, Kazuya; Engel, Andrew G; Ohno, Kinji

    2009-04-01

    We recently reported that the intronic splice-site mutation IVS3-8G>A of CHRNA1 that encodes the muscle nicotinic acetylcholine receptor alpha subunit disrupts binding of a splicing repressor, hnRNP H. This, in turn, results in exclusive inclusion of the downstream exon P3A. The P3A(+) transcript encodes a non-functional alpha subunit that comprises 50% of the transcripts in normal human skeletal muscle, but its functional significance remains undetermined. In an effort to search for a potential therapy, we screened off-label effects of 960 bioactive chemical compounds and found that tannic acid ameliorates the aberrant splicing due to IVS3-8G>A but without altering the expression of hnRNP H. Therefore, we searched for another splicing trans-factor. We found that the polypyrimidine tract binding protein (PTB) binds close to the 3' end of CHRNA1 intron 3, that PTB induces skipping of exon P3A and that tannic acid increases the expression of PTB in a dose-dependent manner. Deletion assays of the PTB promoter region revealed that the tannic acid-responsive element is between positions -232 and -74 from the translation initiation site. These observations open the door to the discovery of novel therapies based on PTB overexpression and to detecting possible untoward effects of the overexpression.

  20. NF-κB inhibition delays DNA damage–induced senescence and aging in mice

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    Tilstra, Jeremy S.; Robinson, Andria R.; Wang, Jin; Gregg, Siobhán Q.; Clauson, Cheryl L.; Reay, Daniel P.; Nasto, Luigi A.; St Croix, Claudette M.; Usas, Arvydas; Vo, Nam; Huard, Johnny; Clemens, Paula R.; Stolz, Donna B.; Guttridge, Denis C.; Watkins, Simon C.; Garinis, George A.; Wang, Yinsheng; Niedernhofer, Laura J.; Robbins, Paul D.

    2012-01-01

    The accumulation of cellular damage, including DNA damage, is thought to contribute to aging-related degenerative changes, but how damage drives aging is unknown. XFE progeroid syndrome is a disease of accelerated aging caused by a defect in DNA repair. NF-κB, a transcription factor activated by cellular damage and stress, has increased activity with aging and aging-related chronic diseases. To determine whether NF-κB drives aging in response to the accumulation of spontaneous, endogenous DNA damage, we measured the activation of NF-κB in WT and progeroid model mice. As both WT and progeroid mice aged, NF-κB was activated stochastically in a variety of cell types. Genetic depletion of one allele of the p65 subunit of NF-κB or treatment with a pharmacological inhibitor of the NF-κB–activating kinase, IKK, delayed the age-related symptoms and pathologies of progeroid mice. Additionally, inhibition of NF-κB reduced oxidative DNA damage and stress and delayed cellular senescence. These results indicate that the mechanism by which DNA damage drives aging is due in part to NF-κB activation. IKK/NF-κB inhibitors are sufficient to attenuate this damage and could provide clinical benefit for degenerative changes associated with accelerated aging disorders and normal aging. PMID:22706308