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Sample records for causing griscelli syndrome

  1. Griscelli syndrome.

    Science.gov (United States)

    Ariffin, H; Geikowski, A; Chin, T F; Chau, D; Arshad, A; Abu Bakar, K; Krishnan, S

    2014-08-01

    We report a case of Griscelli Syndrome (GS). Our patient initially presented with a diagnosis of haemophagocytic lymphistiocytosis (HLH). Subsequent microscopic analysis of the patient's hair follicle revealed abnormal distribution of melanosomes in the shaft, which is a hallmark for GS. Analysis of RAB27A gene in this patient revealed a homozygous mutation in exon 6, c.550C>T, p.R184X . This nonsense mutation causes premature truncation of the protein resulting in a dysfunctional RAB27A. Recognition of GS allows appropriate institution of therapy namely chemotherapy for HLH and curative haemotopoeitic stem cell transplantation. PMID:25500851

  2. Griscelli syndrome

    Directory of Open Access Journals (Sweden)

    Kumar T

    2006-01-01

    Full Text Available Partial albinism with immunodeficiency is a rare and fatal immunologic disorder characterized by pigmentary dilution and variable cellular immunodeficiency. It was initially described in 1978. Primary abnormalities included silvery grayish sheen to the hair, large pigment agglomerations in hair shafts and an abundance of mature melanosomes in melanocytes, with reduced pigmentation of adjacent keratinocytes. We describe a child with Griscelli syndrome who presented with hepatitis, pancytopenia and silvery hair. The diagnosis was confirmed by microscopic skin and hair examination.

  3. Griscelli Syndrome: A Case Report

    OpenAIRE

    MANSOURI NEJAD, Seyed Ebrahim; Mohammad Javad YAZDAN PANAH; Tayyebi Meibodi, Naser; ASHRAFZADEH, Farah; Beiraghi Toosi, Mehran; Akhondian, Javad; ESLAMIEH, Hossein

    2014-01-01

    How to Cite This Article: Mansouri Nejad SE, Yazdan panah MJ, Tayyebi Meibodi N, Ashrafzadeh F, Akhondian J, BeiraghiToosi M, Eslamieh H. Griscelli Syndrome: A Case Report. Iran J Child Neurol. 2014 Autumn;8(4): 72-75.ObjectiveGriscelli syndrome (GS) is a rare autosomal recessive immune deficiency disorder that presents with pigmentary dilution of the skin and hair, recurrent skin and pulmonary infections, neurologic problems, hypogammaglobulinemia, and variable cellular immunodeficiency. Thr...

  4. A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome

    DEFF Research Database (Denmark)

    Westbroek, Wendy; Tuchman, Maya; Tinloy, Bradford;

    2008-01-01

    The autosomal recessive Griscelli syndrome type II (GSII) is caused by mutations in the RAB27A gene. Typical clinical features include immunological impairment, silver-gray scalp hair, eyelashes and eyebrows and hypomelanosis of the skin. Rabs help determine the specificity of membrane trafficking...

  5. Griscelli Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Seyed Ebrahim MANSOURI NEJAD

    2014-12-01

    Full Text Available How to Cite This Article: Mansouri Nejad SE, Yazdan panah MJ, Tayyebi Meibodi N, Ashrafzadeh F, Akhondian J, BeiraghiToosi M, Eslamieh H. Griscelli Syndrome: A Case Report. Iran J Child Neurol. 2014 Autumn;8(4: 72-75.ObjectiveGriscelli syndrome (GS is a rare autosomal recessive immune deficiency disorder that presents with pigmentary dilution of the skin and hair, recurrent skin and pulmonary infections, neurologic problems, hypogammaglobulinemia, and variable cellular immunodeficiency. Three mutations have been described in different phenotypes of the disease. In most of cases, GS leads to death in the first decade of life. In this article, we report a one-year-old child with type 2 GS who suffers from pigmentation disorder and hypogammaglobulinemia.ReferencesKharkar V, Pande S, Mahajan S, Dwiwedi R, Khopkar U. Griscelli syndrome: a new phenotype with circumscribed pigment loss? Dermatol Online J 2007 1;13(2:17.Sheela SR, Latha M, Susy JI. Griscelli syndrome: Rab 27a mutation. Indian Pediatrics 2004; 41:944-947.González Carretero P, Noguera Julian A, Ricart Campos S, Fortuny Guasch C, Martorell Sampol L. Griscelli-Prunieras syndrome: report of two cases. An Pediatr (Barc 2009 ; 70(2:164-7.Szczawinska-Poplonyk A, Kycler Z, Breborowicz A, Klaudel-Dreszler M, Pac M, Zegadlo-Mylik M, et al. Pulmonary lymphomatoid granulomatosis in Griscelli syndrome type 2. Viral Immunol 2011 Dec;24(6:471-3.Durmaz A, Ozkinay F, Onay H, Tombuloglu M, Atay A, Gursel O, et al. Molecular analysis and clinical findings of Griscelli syndrome patients. J Pediatr Hematol Oncol 2012 Oct;34(7:541-4.Reddy RR, Babu BM, Venkateshwaramma B, Hymavathi Ch. Silvery hair syndrome in two cousins: Chediak-Higashi syndrome vs Griscelli syndrome, with rare associations. Int J Trichology 2011; 3(2:107-11.Sahana M, Sacchidanand S, Hiremagalore R, Asha G. Silvery grey hair: clue to diagnose immunodeficiency. Int J Trichology 2012;4(2:83-5.Mahalingashetti PB, Krishnappa MH, Kalyan PS

  6. A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome

    DEFF Research Database (Denmark)

    Westbroek, W.; Tuchman, M.; Tinloy, B.; Wever, O. De; Vilboux, T.; Hertz, J.M.; Hasle, H.; Heilmann, C.; Helip-Wooley, A.; Kleta, R.; Gahl, W.A.

    2008-01-01

    The autosomal recessive Griscelli syndrome type II (GSII) is caused by mutations in the RAB27A gene. Typical clinical features include immunological impairment, silver-gray scalp hair, eyelashes and eyebrows and hypomelanosis of the skin. Rabs help determine the specificity of membrane trafficking...... GSII patient. Laser scanning confocal microscopy showed that the G43S mutation, which is located in the highly conserved switch I region of Rab27A, induces perinuclear localization of melanosomes in normal melanocytes, and fails to restore melanosomes to the actin-rich periphery in GSII melanocytes. Co...

  7. GRISCELLI SYNDROME; A CASE REPORT AND REVIEW OF THE LITERATURE

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    B.Sh. Shamsian MD

    2009-01-01

    Full Text Available Abstract:Griscelli syndrome (GS is a rare disease first described in 1978. It is inherited in autosomal recessive pattern. This disease is characterized by partial albinism, pigmentation dilution, cellular immunodeficiency, neurological involvement & uncontrolled phases of macrophage & lymphocyte activation.We report a 5 months Old Iranian girl presenting with silver-gray hair,eyelashes and eyebrows, hepatosplenomegaly, pancytopenia, hemophagocytosis and progressive neurologic deterioration. Griscelli syndrome can be suggested according to her symptoms. The chemotherapy was not effective for her and she died due to multi organ failure.Key words:Griscelli syndrome, Hemophagocytosis, Albinism.

  8. Oral and dental findings of griscelli syndrome type 3

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    Ozlem Marti Akgun

    2015-09-01

    Full Text Available Griscelli syndrome (GS is a rare autosomal recessive genetic disorder characterized by variable immunodeficiency, partial albinism, abnormal accumulation of melanosomes in melanocytes, pigmentary dilution of the skin, and shiny silver-gray hair. GS has three types, with the first and second types caused by mutations in two genes being located at band 15q21: RAB27A and MYO5A. The expression of the third form of GS is restricted to the characteristic hypopigmentation of GS, and results from mutation in the gene that encodes melanophilin MLPH. It has also been shown that an identical phenotype can result from the deletion of the MYO5A F-exon. The aim of this case report is the presentation of oral and dental features and SEM images of the hair of a 12-year-old girl with GS type 3. [Arch Clin Exp Surg 2015; 4(3.000: 164-167

  9. Griscelli Syndrome Type 2; A Pediatric Case with Immunodeficiency

    OpenAIRE

    Parviz Tabatabaie; Fatemeh Mahjoub; Taher Cheraghi; Nima Parvaneh

    2007-01-01

    A 3.5 month-old girl was admitted with silvery gray hair, light  colored skin, recurrent diarrhea, chest infections, hepatosplenomegaly, episodes of pancytopenia, and hemophagocytosis in the bone marrow. Light microscopy of hair showed characteristic large and irregular clumps of melanin in the middle of hair shaft. Peripheral blood smear examination did not show giant granules in granulocytes. On the basis of these clinical and laboratory findings, Griscelli syndrome was diagnosed. The ...

  10. Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy

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    R Rajyalakshmi

    2016-01-01

    Full Text Available Griscelli syndrome (GS is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1, RAB27A (GS2, and MLPH (GS3 genes, characterized by a common feature, partial albinism. The common variant of three, GS type 2, in addition, shows primary immunodeficiency which leads to recurrent infections and hemophagocytic lymphohistiocytosis. We, herewith, describe a case of GS type 2, in a 4-year-old male child who presented with chronic and recurrent fever, lymphadenopathy, hepatosplenomegaly, and secondary neurological deterioration; highlighting the cytological and histopathological features of lymph nodes. Hair shaft examination of the child confirmed the diagnosis.

  11. Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy.

    Science.gov (United States)

    Rajyalakshmi, R; Chakrapani, R N B

    2016-01-01

    Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1), RAB27A (GS2), and MLPH (GS3) genes, characterized by a common feature, partial albinism. The common variant of three, GS type 2, in addition, shows primary immunodeficiency which leads to recurrent infections and hemophagocytic lymphohistiocytosis. We, herewith, describe a case of GS type 2, in a 4-year-old male child who presented with chronic and recurrent fever, lymphadenopathy, hepatosplenomegaly, and secondary neurological deterioration; highlighting the cytological and histopathological features of lymph nodes. Hair shaft examination of the child confirmed the diagnosis. PMID:26960655

  12. Griscelli Syndrome Type 2; A Pediatric Case with Immunodeficiency

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    Parviz Tabatabaie

    2007-09-01

    Full Text Available A 3.5 month-old girl was admitted with silvery gray hair, light  colored skin, recurrent diarrhea, chest infections, hepatosplenomegaly, episodes of pancytopenia, and hemophagocytosis in the bone marrow. Light microscopy of hair showed characteristic large and irregular clumps of melanin in the middle of hair shaft. Peripheral blood smear examination did not show giant granules in granulocytes. On the basis of these clinical and laboratory findings, Griscelli syndrome was diagnosed. The child succumbed to infection during an accelerated phase of the disease.

  13. GRISCELLI SYNDROME; A CASE REPORT AND REVIEW OF THE LITERATURE

    Directory of Open Access Journals (Sweden)

    B.Sh. Shamsian

    2007-02-01

    Full Text Available Griscelli syndrome (GS is a rare disease first described in 1978. It isinherited in autosomal recessive pattern. This disease is characterizedby partial albinism, pigmentation dilution, cellular immunodeficiency,neurological involvement & uncontrolled phases of macrophage &lymphocyte activation.We report a 5 months Old Iranian girl presenting with silver-gray hair,eyelashes and eyebrows, hepatosplenomegaly, pancytopenia,hemophagocytosis and progressive neurologic deterioration. Griscellisyndrome can be suggested according to her symptoms. Thechemotherapy was not effective for her and she died due to multiorgan failure.

  14. Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations

    DEFF Research Database (Denmark)

    Meeths, Marie; Bryceson, Yenan T; Rudd, Eva; Zheng, Chengyun; Wood, Stephanie M; Ramme, Kim; Beutel, Karin; Hasle, Henrik; Heilmann, Carsten Johan; Hultenby, Kjell; Ljunggren, Hans-Gustaf; Fadeel, Bengt; Nordenskjöld, Magnus; Henter, Jan-Inge

    2010-01-01

    Griscelli syndrome type 2 (GS2) is an autosomal-recessive immunodeficiency caused by mutations in RAB27A, clinically characterized by partial albinism and haemophagocytic lymphohistocytosis (HLH). We evaluated the frequency of RAB27A mutations in 21 unrelated patients with haemophagocytic syndromes...... without mutations in familial HLH (FHL) causing genes or an established diagnosis of GS2. In addition, we report three patients with known GS2. Moreover, neurological involvement and RAB27A mutations in previously published patients with genetically verified GS2 are reviewed....

  15. Partial albinism, immunodeficiency, hypergammaglobulinemia and Dandy-Walker cyst--a Griscelli syndrome variant.

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    Dinakar, Chitra; Lewin, S; Kumar, Karuna R; Harshad, Sujatha R

    2003-10-01

    A 6-year-old girl presented with recurrent infections, seizures, regression of milestones, silvery hair and organomegaly. A diagnosis of Griscelli syndrome with unusual features of a Dandy Walker cyst and hypergammaglobulinemia, not previously described in literature, was made. The child was treated with supportive measures. PMID:14581742

  16. Griscelli syndrome: A case report of Reye′s syndrome and atopic dermatitis history

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    Kirzioglu Z

    2008-12-01

    Full Text Available Griscelli syndrome (GS is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and the hair (silver hair, with the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. Sixty cases of GS have been reported in the literature, but we could find no description of its oro-dental symptoms. Reye′s syndrome (RS is characterized by acute noninflammatory encephalopathy and renal and hepatic failure, while atopic dermatitis (AD is a skin disorder with an immunologic basis. The aim of this paper is to describe the oro-dental and physical findings in a girl who had been diagnosed with GS at 3.5 years of age; she also had AD as well as a history of RS at infancy. We discuss the possible relationship between the three syndromes.

  17. Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients.

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    Cağdaş, Deniz; Ozgür, Tuba Turul; Asal, Gülten Türkkanı; Tezcan, Ilhan; Metin, Ayşe; Lambert, Nathalie; de Saint Basile, Geneiveve; Sanal, Ozden

    2012-10-01

    Griscelli syndrome (GS) is a rare autosomal recessive disorder characterized by partial albinism. Three different types are caused by defects in three different genes. Patients with GS type 1 have primary central nervous system dysfunction, type 2 patients commonly develop hemophagocytic lymphohistiocytosis, and type 3 patients have only partial albinism. While hematopoietic stem cell transplantation is life saving in type 2, no specific therapy is required for types 1 and 3. Patients with GS types 1 and 3 are very rare. To date, only 2 patients with type 3 and about 20 GS type 1 patients, including the patients described as Elejalde syndrome, have been reported. The neurological deficits in Elejalde syndrome were reported as severe neurodevelopmental delay, seizures, hypotonia, and ophthalmological problems including nystagmus, diplopia, and retinal problems. However, none of these patients' clinical progresses were reported. We described here our two new type 1 and two type 3 patients along with the progresses of our previously diagnosed patients with GS types 1 and 3. Our previous patient with GS type I is alive at age 21 without any other problems except severe mental and motor retardation, patients with type 3 are healthy at ages 21 and 24 years having only pigmentary dilution; silvery gray hair, eye brows, and eyelashes. Since prognosis, treatment options, and genetic counseling markedly differ among different types, molecular characterization has utmost importance in GS. PMID:22711375

  18. Treatment of the X-linked lymphoproliferative, Griscelli and Chédiak-Higashi syndromes by HLH directed therapy

    DEFF Research Database (Denmark)

    Trottestam, Helena; Beutel, Karin; Meeths, Marie; Carlsen, Niels; Heilmann, Carsten; Pasic, Srdjan; Webb, David; Hasle, Henrik; Henter, Jan-Inge

    2009-01-01

    follow-up of 5.6 years. All GS2, one XLP and one CHS patient underwent hematopoietic stem cell transplant. Mean follow-up post transplant was 6.0 years. Six of the seven transplanted children achieved non-active disease status at the time for SCT. Neurological sequelae were reported in all, except for......BACKGROUND: Griscelli syndrome type 2 (GS2), the X-linked lymphoproliferative (XLP) and the Chédiak-Higashi (CHS) syndromes are diseases that all may develop hemophagocytic syndromes. We wanted to investigate whether the treatment protocols for hemophagocytic lymphohistiocytosis (HLH) can also be...... used for these syndromes. PROCEDURE: In the HLH-94/HLH-2004 treatment study registries, we evaluated all patients with GS2 (n = 5), XLP (n = 2) or CHS (n = 2) treated between 1994 and 2004. RESULTS: All patients responded to the therapy, and all are alive but one (suffering from CHS), with a mean...

  19. Griscelli syndrome: characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene.

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    Bizario, João C S; Feldmann, Jérôme; Castro, Fabíola A; Ménasché, Gaël; Jacob, Cristina M A; Cristofani, L; Casella, Erasmo B; Voltarelli, Júlio C; de Saint-Basile, Geneviève; Espreafico, Enilza M

    2004-07-01

    Griscelli syndrome (GS) is caused by mutations in the MYO5A (GS1), RAB27A (GS2), or MLPH (GS3) genes, all of which lead to a similar pigmentary dilution. In addition, GS1 patients show primary neurological impairment, whereas GS2 patients present immunodeficiency and periods of lymphocyte proliferation and activation, leading to their infiltration in many organs, such as the nervous system, causing secondary neurological damage. We report the diagnosis of GS2 in a 4-year-old child with haemophagocytic syndrome, immunodeficiency, and secondary neurological disorders. Typical melanosome accumulation was found in skin melanocytes and pigment clumps were observed in hair shafts. Two heterozygous mutant alleles of the RAB27A gene were found, a C-T transition (C352T) that leads to Q118stop and a G-C transversion on the exon 5 splicing donor site (G467+1C). Functional assays showed increased cellular activation and decreased cytotoxic activity of NK and CD8+ T cells, associated with defective lytic granules release. Myosin-Va expression and localization in the patient lymphocytes were also analyzed. Most importantly, we show that cytotoxic activity of the patient's CD8+ T lymphocytes can be rescued in vitro by RAB27A gene transfer mediated by a recombinant retroviral vector, a first step towards a potential treatment of the acute phase of GS2 by RAB27A transduced lymphocytes. PMID:15163896

  20. Neuroimaging abnormalities in Griscelli's disease

    International Nuclear Information System (INIS)

    Griscelli's disease is a rare autosomal recessive immunodeficiency syndrome. We report a 7-1/2-month-old white girl who presented with this syndrome, but initially without neurological abnormalities. Initial CT of the brain was normal. Despite haematological remission with chemotherapy, she developed neurological symptoms, progressing to coma. At this time, CT showed areas of coarse calcification in the globi pallidi, left parietal white matter and left brachium pontis. Hypodense areas were present in the genu and posterior limb of the internal capsule on the right side, as well as posterior aspects of both thalami, together with minimal generalised atrophy. MRI revealed areas of increased T2 signal and a focal area of abnormal enhancement in the subcortical white matter. Griscelli's disease should be added to the list of acquired neuroimaging abnormalities in infants. (orig.)

  1. Hematopoietic stem cell transplantation with a reduced-intensity conditioning regimen in pediatric patients with Griscelli syndrome type 2.

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    Hamidieh, Amir Ali; Pourpak, Zahra; Yari, Kolsoum; Fazlollahi, Mohammad Reza; Hashemi, Susan; Behfar, Maryam; Moin, Mostafa; Ghavamzadeh, Ardeshir

    2013-08-01

    Partial albinism with variable immunodeficiency are the two major characteristics of Griscelli syndrome type 2 (GS-2). This syndrome is usually associated with a high mortality rate and commonly results in early childhood death. Patients suffer from different infections and experience crisis of HLH. HSCT remains the sole curative treatment for GS-2. We prospectively analyzed the outcomes of transplantation with RIC regimen in five patients. The median age at transplantation was 21.6 months (range: 12-30). All of the patients underwent HSCT from HLA-matched related donors. Currently, four patients are cured, and symptoms of recurrent infections and HLH crisis are not seen in them. The only patient who died had undergone HSCT in the accelerated phase of HLH. One patient who developed acute GvHD had a favorable response to therapy. No chronic GvHD occurred in patients. It seems that the use of RIC regimen as a method of transplant preparation is effective and tolerable in this group of patients with various comorbidities. It is recommended to carry out HSCT in these patients at lower ages, before presentations of different infections and HLH crisis. PMID:23714271

  2. Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure

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    I.P. Meschede

    2008-10-01

    Full Text Available Griscelli syndrome (GS is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1, Elejalde, RAB27A (GS2 or MLPH (GS3 genes. Typical features of all three subtypes of this disease include pigmentary dilution of the hair and skin and silvery-gray hair. Whereas the GS3 phenotype is restricted to the pigmentation dysfunction, GS1 patients also show primary neurological impairment and GS2 patients have severe immunological deficiencies that lead to recurrent infections and hemophagocytic syndrome. We report here the diagnosis of GS2 in 3-year-old twin siblings, with silvery-gray hair, immunodeficiency, hepatosplenomegaly and secondary severe neurological symptoms that culminated in multiple organ failure and death. Light microscopy examination of the hair showed large, irregular clumps of pigments characteristic of GS. A homozygous nonsense mutation, C-T transition (c.550C>T, in the coding region of the RAB27A gene, which leads to a premature stop codon and prediction of a truncated protein (R184X, was found. In patient mononuclear cells, RAB27A mRNA levels were the same as in cells from the parents, but no protein was detected. In addition to the case report, we also present an updated summary on the exon/intron organization of the human RAB27A gene, a literature review of GS2 cases, and a complete list of the human mutations currently reported in this gene. Finally, we propose a flow chart to guide the early diagnosis of the GS subtypes and Chédiak-Higashi syndrome.

  3. Griscelli Syndrome Type 3: Two New Cases and Review of the Literature.

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    Nouriel, Ariella; Zisquit, Jonah; Helfand, Alexander M; Anikster, Yair; Greenberger, Shoshana

    2015-01-01

    A 3-year-old Arab boy with a history of hypoplastic left heart syndrome was referred to the pediatric dermatology clinic at Sheba Medical Center for evaluation of hypomelanosis, manifested by fair skin pigmentation and silvery-grey hair, eyebrows, and eyelashes. The child had one older brother with similar hypopigmentation and another older brother who had died of congenital heart disease. The child had no history of neurologic deficits or immunodeficiency and no additional findings on clinical evaluation. PMID:26337734

  4. What Causes Rett Syndrome?

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    ... Information Clinical Trials Resources and Publications What causes Rett syndrome? Skip sharing on social media links Share this: ... as bad for development as too little. Is Rett syndrome passed from one generation to the next? In ...

  5. Polarized light microscopy of hair shafts aids in the differential diagnosis of Chédiak-Higashi and Griscelli-Prunieras syndromes Contribuição do estudo dos cabelos com microscopia de luz polarizada ao diagnóstico diferencial das síndromes de Chédiak-Higashi and Grisceli-Prunieras

    Directory of Open Access Journals (Sweden)

    Neusa Y.S. Valente

    2006-08-01

    Full Text Available PURPOSE: To study and compare the appearance of hairs from patients with Chédiak-Higashi and Griscelli-Prunieras syndromes under light and polarized light microscopy. METHOD: Hairs from 2 Chédiak-Higashi and 2 Griscelli-Prunieras patients were obtained and examined under normal and polarized light microscopy. RESULTS: Under light microscopy, hairs from Chédiak-Higashi patients presented evenly distributed, regular melanin granules, larger than those seen in normal hairs. Under polarized light microscopy, shafts exhibited a bright and polychromatic refringence appearance. In contrast, hair from Griscelli-Prunieras patients, under light microscopy, exhibited bigger and irregular melanin granules, distributed mainly near the medulla. Under polarized light microscopy, shafts appeared monotonously white. CONCLUSION: Light microscopic examination of hair shafts of patients with Chédiak-Higashi or Griscelli-Prunieras syndrome reveals subtle differences that are useful in identifying both disorders, but not in distinguishing between them. We provide evidence that polarized light microscopy of hair shafts, an approach that has not been previously described, aids in differentiating between these syndromes. We propose hair study by polarized light microscopy as a helpful complementary diagnostic method for differential diagnosis between CHS and GPS, especially when the more sophisticated molecular studies are not available.OBJETIVO: Estudar e comparar o aspecto dos cabelos de portadores das síndromes de Chédiak-Higashi e Griscelli-Prunieras, tanto na microscopia óptica convencional quanto com luz polarizada. MÉTODO: Cabelos de dois doentes portadores da síndrome de Chédiak-Higashi e de dois portadores da síndrome de Griscelli-Prunieras foram obtidos e estudados tanto à microscopia convencional quanto com luz polarizada. RESULTADOS: Na microscopia óptica convencional, os cabelos dos doentes portadores da síndrome de Chédiak-Higashi mostraram

  6. What Causes Cushing's Syndrome?

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    ... in the lungs, pancreas (pronounced PAN-kree-uhs ), thyroid, or thymus How Tumors Can Cause Cushing’s Syndrome Normally, the pituitary gland ... cancerous, are mostly found in the lungs, pancreas, thyroid, and thymus. ... are more vulnerable to tumors in one or more glands that influence cortisol ...

  7. What Causes Prader-Willi Syndrome?

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    ... Research Information Clinical Trials Resources and Publications What causes Prader-Willi syndrome (PWS)? Skip sharing on social ... from parent to child. The genetic changes that cause Prader-Willi syndrome occur in a portion of ...

  8. Do We Know What Causes Myelodysplastic Syndromes?

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    ... Next Topic Can myelodysplastic syndromes be prevented? Do we know what causes myelodysplastic syndromes? Some cases of ... the instructions for nearly everything our cells do. We usually look like our parents because they are ...

  9. Extrapyramidal syndromes caused by antipsychotics

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    Živanović Olga

    2012-01-01

    Full Text Available Introduction. Extrapyramidal syndromes are significant side effects of antipsychotic therapy due to their severity, frequent occurrence and complications. This paper gives a brief summary of the literature with the emphasis on epidemiology, etiology, diagnosis and differential diagnosis, as well as the treatment of extrapyramidal disorders induced by antipsychotics. Dystonia. Sustained muscle contractions cause twisting and repetitive movements or abnormal postures. It may appear either as an acute or delayed, i.e. tardive sign. The incidence of dystonia is 2-3% among the patients treated with antipsychotics, and 50% among the ones cured with conventional antipsychotics. Akathisia. The main feature of this curious adverse effect is the psychomotor restlessness and the inability to remain motionless. Although akathisia is not very frequent, its incidence and prevalence ranges from 5 to 50% among the treated patients. It is most probably a result of the blockage of dopaminergic receptors. Parkinsonism. The most frequent secondary Parkinsonism is the one caused by drugs. The characteristic parkinsonian signs regress 4 to 16 weeks after the discontinuation of antipsychotic therapy. In the era of atypical antipsychotics this adverse effect appears less frequently. Tardive dyskinesia. Involuntary choreatic movements may appear days and months after the introduction of continuous use of antipsychotics. The individual susceptibility may play the major role in the development of this side effect. Conclusion. Numerous studies have compared conventional and atypical antipsychotics as well as atypical ones with one another in order to decrease the risk of development of extrapyramical side effects as well as to prevent their occurrence and improve their treatment.

  10. Radiation nephritis causing nephrotic syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Jennette, J.C.; Ordonez, N.G.

    1983-12-01

    Clinical symptoms of acute radiation nephritis with nephrotic syndrome developed in a fifty-six-year-old woman after abdominal radiation therapy for an astrocytoma of the spinal cord. The diagnosis of radiation nephritis was confirmed by renal biopsy. To our knowledge, this is the first documented case of radiation nephritis associated with nephrotic syndrome.

  11. A rare cause of Cushing's syndrome

    DEFF Research Database (Denmark)

    Folkestad, Lars; Andersen, Marianne Skovsager; Nielsen, Anne Lerberg;

    2014-01-01

    Excess glucocorticoid levels cause Cushing's syndrome (CS) and may be due to pituitary, adrenal or ectopic tumours. Adrenocorticotropic hormone (ACTH) levels are useful in identifying adrenal tumours. In rare cases, ACTH-producing phaeochromocytomas are the cause of CS. We present two cases of ACTH...

  12. Hypersensitivity syndrome caused by amitriptyline administration

    OpenAIRE

    Milionis, H.; Skopelitou, A; Elisaf, M

    2000-01-01

    Adverse cutaneous manifestations are among the most common side effects associated with psychotropic drugs. Skin reactions due to amitriptyline (a tricyclic antidepressant agent) include rashes and hypersensitivity reactions (for example, urticaria and photosensitivity) as well as hyperpigmentation. Hypersensitivity syndrome is a specific severe idiosyncratic reaction causing skin, liver, joint, and haematological abnormalities, which usually resolve after the discontinuation of the implicate...

  13. Carpal tunnel syndrome caused by cysticercosis

    OpenAIRE

    Sharma S; Sharma Nalini; Yeolekar M

    2010-01-01

    We present a case of carpal tunnel syndrome (CTS) due to compression of the median nerve within the carpal tunnel, caused by cysticercosis. Nerve conduction studies revealed severe CTS. Magnetic resonance imaging suggested an inflammatory mass compressing the median nerve in carpal tunnel. The histological diagnosis was consistent with cysticercosis. The case resolved with conservative treatment. Such solitary presentation of entrapment median neuropathy as CTS caused by cysticercosis is extr...

  14. Symptomatic Elbow Ganglion Causing Pronator Syndrome

    OpenAIRE

    Ross Blagg, MD; W. Bradford Rockwell, MD

    2014-01-01

    Summary: Descriptions of ganglion cysts date back to 400 BC. Ganglions causing peripheral nerve compression have been described most notably at the wrist. Ganglion compression of the median nerve at the elbow is rare. We report a case of a palmar elbow ganglion causing median nerve compression and the clinical presentation of pronator syndrome. After removal of the ganglion and median nerve decompression, the patient’s symptoms fully resolved.

  15. Symptomatic Elbow Ganglion Causing Pronator Syndrome

    Directory of Open Access Journals (Sweden)

    Ross Blagg, MD

    2014-02-01

    Full Text Available Summary: Descriptions of ganglion cysts date back to 400 BC. Ganglions causing peripheral nerve compression have been described most notably at the wrist. Ganglion compression of the median nerve at the elbow is rare. We report a case of a palmar elbow ganglion causing median nerve compression and the clinical presentation of pronator syndrome. After removal of the ganglion and median nerve decompression, the patient’s symptoms fully resolved.

  16. Superior mesenteric artery syndrome causing growth retardation

    Directory of Open Access Journals (Sweden)

    Halil İbrahim Taşcı

    2013-03-01

    Full Text Available Superior mesenteric artery syndrome is a rare and lifethreateningclinical condition caused by the compressionof the third portion of the duodenum between the aortaand the superior mesenteric artery’s proximal part. Thiscompression may lead to chronic intermittent, acute totalor partial obstruction. Sudden weight-loss and the relateddecrease in the fat tissue are considered to be the etiologicalreason of acute stenosis. Weight-loss accompaniedby nausea, vomiting, anorexia, epigastric pain, andbloating are the leading complaints. Barium radiographs,computerized tomography, conventional angiography,tomographic and magnetic resonance angiography areused in the diagnosis. There are medical and surgical approachesto treatment. We hereby present the case ofa patient with superior mesenteric artery syndrome withdelayed diagnosis.Key words: superior mesenteric artery syndrome, nausea-vomiting, anorexia

  17. Break-Dance: An Unusual Cause of Hammer Syndrome

    International Nuclear Information System (INIS)

    We report the case of a young break-dancer presenting with hammer syndrome. This syndrome has been correlated with many professional and recreational activities but this is, to our knowledge, the first description of hammer syndrome caused by break-dancing. The etiology, diagnosis and treatment modalities of this rare syndrome are considered

  18. Goldenhar syndrome: a cause of secondary immunodeficiency?

    Directory of Open Access Journals (Sweden)

    De Golovine Serge

    2012-07-01

    Full Text Available Abstract Goldenhar syndrome (GS results from an aberrant development of the 1st and 2nd branchial arches. There is a wide range of clinical manifestations, the most common being microtia, hemifacial microsomia, epibulbar dermoids and vertebral malformations. We present two cases of GS and secondary immunodeficiency due to anatomical defects characteristic of this disorder. Case 1 (3-year-old female averaged 6 episodes of sinusitis and otitis media per year. Case 2 (7-year-old female also had recurrent otitis media, an episode of bacterial pneumonia, and 2 episodes of bacterial meningitis. Their immune evaluation included a complete blood count with differential, serum immunoglobulin levels and specific antibody concentrations, lymphocyte phenotyping, and mitogen and antigen responses, the results of which were all within normal ranges. Both children demonstrated major structural abnormalities of the inner and middle ear structures, retention of fluid in mastoid air cells, and chronic sinusitis by computed tomography. These two cases illustrate how a genetically-associated deviation of the middle ear cleft can cause recurrent infections and chronic inflammation of the middle ear and adjacent sinuses, even meninges, leading to a greatly reduced quality of life for the child and parents.

  19. Secondary SUNCT syndrome caused by dorsolateral medullary infarction.

    Science.gov (United States)

    Jin, Di; Lian, Ya-Jun; Zhang, Hai-Feng

    2016-12-01

    Short-lasting unilateral neuralgiform headaches with conjunctival injection and tearing (SUNCT) is a rare headache syndrome which belongs to trigeminal autonomic cephalalgias. Though the majority of SUNCT syndrome is idiopathic, more and more cases of secondary SUNCT syndrome have been reported recently. In this study, we present a case of symptomatic SUNCT syndrome caused by acute dorsolateral medullary infarction which was verified by brain MRI(magnetic resonance imaging). Up to now, there is not absolutely effective treatment for SUNCT syndrome. However, in our case, SUNCT was completely resolved after conventional treatment for cerebral infarction without specific drug intervention. PMID:26885826

  20. KID syndrome une cause de pachydermatologie

    OpenAIRE

    BOUDGHENE STAMBOULI, O.; BELBACHIR, A

    2012-01-01

    le KID syndrome est une dysplasie ectodermique rare,associant une erythrokeratodermie,une surdite et une keratine. Le Syndrome de Melkersson Rosenthal (SMR) (1) est une entité rare, caractérisée cliniquement par une triade (Macrochéilite, paralysie faciale périphérique, langue plicaturée) et histologiquement par la présence d’infiltrats dermiques granulomateux. Nous rapportons notre expérience sur ce syndrome où les différents traitements médicamenteux préconisés au long cou...

  1. Antisynthetase Syndrome: A Rare Cause for ILD

    OpenAIRE

    Devi, HJ Gayathri; Pasha, Md Majeed; Padmaja, Mantha Sathya; Halappa, Sujith

    2016-01-01

    Anti-Synthetase Syndrome (ASS) is a rare autoimmune disorder characterized by Interstitial Lung Disease (ILD), inflammatory myositis, fever, Raynaud’s phenomenon, mechanic’s hand, and inflammatory polyarthritis in the setting of antibodies against amino acyl-transfer RNA synthetases, with anti-Jo-1 antibody being the most common. It can sometimes present as interstitial lung disease without any other expression of the syndrome. Clinical and radiological features can be similar to atypical pne...

  2. Chronic Fatigue Syndrome: Searching for the Cause and Treatment.

    Science.gov (United States)

    Eichner, Edward R.

    1989-01-01

    Chronic fatigue syndrome became known nationally in l985 with a pseudoepidemic in a Nevada resort community. Initially and erroneously linked to the Epstein-Barr virus, the cause of this puzzling syndrome and the mind-body connection are areas of controversy and research. (Author/SM)

  3. Goldenhar syndrome: a cause of secondary immunodeficiency?

    OpenAIRE

    De Golovine Serge; Wu Shuya; Hunter Jill V; Shearer William T

    2012-01-01

    Abstract Goldenhar syndrome (GS) results from an aberrant development of the 1st and 2nd branchial arches. There is a wide range of clinical manifestations, the most common being microtia, hemifacial microsomia, epibulbar dermoids and vertebral malformations. We present two cases of GS and secondary immunodeficiency due to anatomical defects characteristic of this disorder. Case 1 (3-year-old female) averaged 6 episodes of sinusitis and otitis media per year. Case 2 (7-year-old female) also h...

  4. Shoulder impingement syndrome : evaluation of the causes with MRI

    Energy Technology Data Exchange (ETDEWEB)

    Choi, Yong Ho; Song, In Sup; Chung, Hun Young; Yoon, Sang Jin; Kim, Yang Soo; Shim, Hyung Jin; Choi, Young Hee; Lee, Jong Beum; Lee, Yong Chul; Kim, Kun Sang [Chungang Univ. College of Medicine, Seoul (Korea, Republic of); Choi, Yun Sun [Eulji Hospital, College of Medicine, Seoul (Korea, Republic of)

    1999-12-01

    Various mechanical causes which induce shoulder impingement syndrome have been identified with the help of MRI. The aim of this study is to evaluate the incidence of such causes. A total of 54 patients with clinically confirmed shoulder impingement syndrome and a normal control group(n=20) without symptoms were included. We evaluated the incidence of hook shaped acromion, low lying acromion, downward slope of the acromion, subacromial spur, acromioclavicular joint hypertrophy, coracoacromial ligament hypertrophy, high cuff muscle bulk, and os acromiale. Among the 54 patients, the following conditions were present: acromioclavicular joint hypertrophy(n=36), coracoacromial ligament hypertrophy(n=20), subacromial spur(n=18), downward sloping of the acromion(n=16), hook shaped acromion(n=11), relatively high cuff muscle bulk(n=6), low lying acromion relative to the clavicle(n=3), and os acromiale(n=1). In the normal control group there were nine cases of acromioclavicular joint hypertrophy, nine of coracoacromial ligament hypertrophy, nine of downward sloping acromion, and three of low lying acromion, but hook shaped acromion, high cuff muscle bulk, and os acromiale were not found. Among 54 patients, the syndrome was due to five simultancous causes in one patient, four causes in two, three causes in 12, two causes in 22, and one cause in 17. Hook shaped acromion and subacromial spur are the statistically significant causes of shoulder impingement syndrome. In 69% of patients, the condition was due to more than one cause.

  5. Shoulder impingement syndrome : evaluation of the causes with MRI

    International Nuclear Information System (INIS)

    Various mechanical causes which induce shoulder impingement syndrome have been identified with the help of MRI. The aim of this study is to evaluate the incidence of such causes. A total of 54 patients with clinically confirmed shoulder impingement syndrome and a normal control group(n=20) without symptoms were included. We evaluated the incidence of hook shaped acromion, low lying acromion, downward slope of the acromion, subacromial spur, acromioclavicular joint hypertrophy, coracoacromial ligament hypertrophy, high cuff muscle bulk, and os acromiale. Among the 54 patients, the following conditions were present: acromioclavicular joint hypertrophy(n=36), coracoacromial ligament hypertrophy(n=20), subacromial spur(n=18), downward sloping of the acromion(n=16), hook shaped acromion(n=11), relatively high cuff muscle bulk(n=6), low lying acromion relative to the clavicle(n=3), and os acromiale(n=1). In the normal control group there were nine cases of acromioclavicular joint hypertrophy, nine of coracoacromial ligament hypertrophy, nine of downward sloping acromion, and three of low lying acromion, but hook shaped acromion, high cuff muscle bulk, and os acromiale were not found. Among 54 patients, the syndrome was due to five simultancous causes in one patient, four causes in two, three causes in 12, two causes in 22, and one cause in 17. Hook shaped acromion and subacromial spur are the statistically significant causes of shoulder impingement syndrome. In 69% of patients, the condition was due to more than one cause

  6. A nonsense mutation in FMR1 causing fragile X syndrome

    DEFF Research Database (Denmark)

    Grønskov, Karen; Brøndum-Nielsen, Karen; Dedic, Alma;

    2011-01-01

    Fragile X syndrome is a common cause of inherited intellectual disability. It is caused by lack of the FMR1 gene product FMRP. The most frequent cause is the expansion of a CGG repeat located in the 5'UTR of FMR1. Alleles with 200 or more repeats become hypermethylated and transcriptionally silent....... Only few patients with intragenic point mutations in FMR1 have been reported and, currently, routine analysis of patients referred for fragile X syndrome includes solely analysis for repeat expansion and methylation status. We identified a substitution in exon 2 of FMR1, c.80C>A, causing a nonsense...... mutation p.Ser27X, in a patient with classical clinical symptoms of fragile X syndrome. The mother who carried the mutation in heterozygous form presented with mild intellectual impairment. We conclude that further studies including western blot and DNA sequence analysis of the FMR1 gene should be...

  7. Restless Legs Syndrome -- Causes and Symptoms

    Science.gov (United States)

    ... Facts Causes and Risk Factors Diagnosis and Treatment Sleepwalking Overview & Facts Symptoms & Risk Factors Diagnosis & Treatment Sleep Terrors Overview & Facts Symptoms & Risk Factors Diagnosis & Treatment Sleep Eating Disorder Overview & Facts Symptoms & Risk Factors Diagnosis & Treatment REM ...

  8. A Rare Cause of Macroscobic Hematuria: Nutcracker Syndrome

    Directory of Open Access Journals (Sweden)

    Nilgün Selçuk Duru

    2015-03-01

    Full Text Available Nutcracker syndrome caused by compression of the left renal vein between the abdominal aorta and the superior mesenteric artery is a rare anatomo-pathological condition. The patients have symptoms such as hematuria, proteinuria, and left flank pain. In this paper, we report a 13-year-old boy who presented with macroscopic haematuria. Routine laboratory tests for the evaluation of hematuria were normal. Abdominal computed tomography revealed that the left renal vein was compressed between the aorta and the superior mesenteric artery. A diagnosis of nutcracker syndrome was established. If Nutcracker syndrome is considered in the differential diagnosis of haematuria, it is easily diagnosed by imaging techniques.

  9. Eagle Syndrome Causing Vascular Compression with Cervical Rotation: Case Report

    Science.gov (United States)

    Demirtaş, Hakan; Kayan, Mustafa; Koyuncuoğlu, Hasan Rıfat; Çelik, Ahmet Orhan; Kara, Mustafa; Şengeze, Nihat

    2016-01-01

    Summary Background Eagle syndrome is a condition caused by an elongated styloid process. Unilateral face, neck and ear pain, stinging pain, foreign body sensation and dysphagia can be observed with this syndrome. Rarely, the elongated styloid process may cause pain by compressing the cervical segment of the internal carotid and the surrounding sympathetic plexus, and that pain spreading along the artery can cause neurological symptoms such as vertigo and syncope. Case Report In this case report we presented a very rare eagle syndrome with neurological symptoms that occurred suddenly with cervical rotation. The symptoms disappeared as suddenly as they occurred, with the release of pressure in neutral position. We also discussed CT angiographic findings of this case. Conclusions Radiological diagnosis of the Eagle syndrome that is manifested with a wide variety of symptoms and causes diagnostic difficulties when it is not considered in the differential diagnosis is easy in patients with specific findings. CT angiography is a fast and effective examination in terms of showing compression in patients with the Eagle syndrome that is considered to be atypical and causes vascular compression. PMID:27354882

  10. Light and scanning electron microscopic examination of hair in Garlic's syndrome

    International Nuclear Information System (INIS)

    Grisceli syndrome is a rare disease is a rare disease characterized by pigment dilution, partial albinism, variable cellular immunodeficiency and an acute phase of uncontrolled T-lymphocyte macrophage activation. Griscelli et al described this syndrome in 1978. Since then, only approximately, 60 cases have been reported, most from Turkish and Mediterranean population. In microscopic examination, silvery grey hair with large clumped melanosomes on the hair shaft is the diagnostic finding. Here, we present scanning electron microscopic study of hair in 2 cases of Griscelli syndrome where the hair showed normal cuticular pattern but nodular structures were present as an abnormal finding. (author)

  11. Time to revise the paradigm of hantavirus syndromes? Hantavirus pulmonary syndrome caused by European hantavirus

    OpenAIRE

    Rasmuson, J.; Andersson, C.; Norrman, E.; Haney, M; Evander, M.; Ahlm, C.

    2011-01-01

    Abstract Hantaviruses have previously been recognised to cause two separate syndromes: hemorrhagic fever with renal syndrome in Eurasia, and hantavirus pulmonary syndrome (HPS) in the Americas. However, increasing evidence suggests that this dichotomy is no longer fruitful when recognising human hantavirus disease and understanding the pathogenesis. Herein are presented three cases of severe European Puumala hantavirus infection that meet the HPS case definition. The clinical and p...

  12. A Rare Cause of Secondary Hypertension: Conn Syndrom

    Directory of Open Access Journals (Sweden)

    Samet Sayilan

    2016-01-01

    Full Text Available Hypertension, is classified as primary (essential or secondary based on whether there is an identifiable cause. When it is determined a certain underlying cause of hypertension it is categorized as secondary hypertension. Conn%u2019s syndrome (primary hyperaldosteronism, a disorder of adrenal cortex characterized by exces aldosterone secretion, is an endocrine disorder that causes hypertension and it is seen in about 0.1% of all patients with hypertension. It can be caused by either unilateral disease (i.e. adenoma in one adrenal gland or bilateral disease (i.e. hyperplasia in both adrenal glands. Conn%u2019s syndrome secondary to bilateral adrenal adenoma, a cause of secondary hypertension, was presented in this articleas it is rarely reported in the literature.

  13. Toe scratches cause scabby hip syndrome lesions.

    Science.gov (United States)

    Hargis, B M; Moore, R W; Sams, A R

    1989-08-01

    Scabs and scratches in the hip region of chicken carcasses have become the single most common cause of downgrading and required trimming at processing in some areas of the United States. Repeatable correlations with microbiological agents, environment, and nutrition have not been observed. The present report provides evidence that scabs and scratches, present at processing, are the result of injuries inflicted by toenails of birds as they climb on one another. Onychectomy (removal of approximately two-thirds of the distal phalanx) of all four digits of each foot prior to chick placement resulted in 3.7 and 4.8-fold reduction in subjective lesion scores and 7 to 10-fold increases in the percentage of USDA Grade A carcasses at a commercial processing plant. PMID:2780490

  14. Postoperative Spinal Epidural Haematoma Causing Cauda Equina Syndrome: Case Report

    Directory of Open Access Journals (Sweden)

    Emre Delen

    2013-08-01

    Full Text Available Cauda equina syndrome is a neurological disorder defined by urinary and/or anal sphincter dysfunction, bilateral sciatica and bilateral motor and sensory deficits. Regarding the etiology, lumbar disc disease, spinal stenosis, tumors, haematomas, fractures, infectious diseases and ankylosing spondylitis are pathologies causing this syndrome. Spinal epidural haematomas are common amongst complications after spinal surgery. However the majority of these cases are asymptomatic, thus having little clinical importance. Symptomatic postoperative spinal epidural haematomas is a serious complication, and in order to prevent permanent neurologic deficit it requires urgent surgical intervention. This article aims to present the case of a patient with a spinal epidural haematoma after spinal stenosis surgery, causing cauda equina syndrome.

  15. The syndrome of inappropriate antidiuretic hormone: prevalence, causes and consequences.

    LENUS (Irish Health Repository)

    Hannon, M J

    2010-06-01

    Hyponatraemia is the commonest electrolyte abnormality found in hospital inpatients, and is associated with a greatly increased morbidity and mortality. The syndrome of inappropriate antidiuretic hormone (SIADH) is the most frequent cause of hyponatraemia in hospital inpatients. SIADH is the clinical and biochemical manifestation of a wide range of disease processes, and every case warrants investigation of the underlying cause. In this review, we will examine the prevalence, pathophysiology, clinical characteristics and clinical consequences of hyponatraemia due to SIADH.

  16. Single Gene and Syndromic Causes of Obesity: Illustrative Examples.

    Science.gov (United States)

    Butler, Merlin G

    2016-01-01

    Obesity is a significant health problem in westernized societies, particularly in the United States where it has reached epidemic proportions in both adults and children. The prevalence of childhood obesity has doubled in the past 30 years. The causation is complex with multiple sources, including an obesity promoting environment with plentiful highly dense food sources and overall decreased physical activity noted for much of the general population, but genetic factors clearly play a role. Advances in genetic technology using candidate gene approaches, genome-wide association studies, structural and expression microarrays, and next generation sequencing have led to the discovery of hundreds of genes recognized as contributing to obesity. Polygenic and monogenic causes of obesity are now recognized including dozens of examples of syndromic obesity with Prader-Willi syndrome, as a classical example and recognized as the most common known cause of life-threatening obesity. Genetic factors playing a role in the causation of obesity will be discussed along with the growing evidence of single genes and the continuum between monogenic and polygenic obesity. The clinical and genetic aspects of four classical but rare obesity-related syndromes (ie, Prader-Willi, Alström, fragile X, and Albright hereditary osteodystrophy) will be described and illustrated in this review of single gene and syndromic causes of obesity. PMID:27288824

  17. Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.

    Science.gov (United States)

    Boyden, Lynn M; Kam, Chen Y; Hernández-Martín, Angela; Zhou, Jing; Craiglow, Brittany G; Sidbury, Robert; Mathes, Erin F; Maguiness, Sheilagh M; Crumrine, Debra A; Williams, Mary L; Hu, Ronghua; Lifton, Richard P; Elias, Peter M; Green, Kathleen J; Choate, Keith A

    2016-01-15

    Disorders of keratinization (DOK) show marked genotypic and phenotypic heterogeneity. In most cases, disease is primarily cutaneous, and further clinical evaluation is therefore rarely pursued. We have identified subjects with a novel DOK featuring erythrokeratodermia and initially-asymptomatic, progressive, potentially fatal cardiomyopathy, a finding not previously associated with erythrokeratodermia. We show that de novo missense mutations clustered tightly within a single spectrin repeat of DSP cause this novel cardio-cutaneous disorder, which we term erythrokeratodermia-cardiomyopathy (EKC) syndrome. We demonstrate that DSP mutations in our EKC syndrome subjects affect localization of desmosomal proteins and connexin 43 in the skin, and result in desmosome aggregation, widening of intercellular spaces, and lipid secretory defects. DSP encodes desmoplakin, a primary component of desmosomes, intercellular adhesion junctions most abundant in the epidermis and heart. Though mutations in DSP are known to cause other disorders, our cohort features the unique clinical finding of severe whole-body erythrokeratodermia, with distinct effects on localization of desmosomal proteins and connexin 43. These findings add a severe, previously undescribed syndrome featuring erythrokeratodermia and cardiomyopathy to the spectrum of disease caused by mutation in DSP, and identify a specific region of the protein critical to the pathobiology of EKC syndrome and to DSP function in the heart and skin. PMID:26604139

  18. Gluteal compartment syndrome after prostatectomy caused by incorrect positioning.

    Science.gov (United States)

    Heyn, Jens; Ladurner, R; Ozimek, A; Vogel, T; Hallfeldt, K K; Mussack, T

    2006-04-28

    Gluteal compartment syndrome is an uncommon and rare disease. Most reasonable causes for the development of this disease are trauma, drug induced coma, Ehlers-Danlos syndrome, sickle cell associated muscle infarction, incorrect positioning during surgical procedures and prolonged pressure in patients with altered consciousness levels. The diagnosis requires a high index of suspicion, especially in postoperative patient where sedation or peridural anaesthesia can confound the neurological examination. Early signs include gluteal tenderness, decrease in vibratory sensation during clinical examination and increasing CK in laboratory findings. We present a case of a 52 year-old patient, who developed gluteal compartment syndrome after radical prostatectomy in lithotomic position. After operation, diuresis decreased [pain in the gluteal region and both thighs. His thighs and the gluteal region were swollen. Passive stretch of the thighs caused enormous pain. The compartment pressure was 92 mmHg. Therefore, emergency fasciotomy was performed successfully. The gluteal compartment syndrome was most likely caused by elevated pressure on the gluteal muscle during operation. We suggest heightened awareness of positioning the patient on the operating table is important especially in obese patients with lengthy operating procedures. PMID:16720283

  19. Cubital tunnel syndrome caused by hypertrophic burn scarring: Sonographic envisage

    Directory of Open Access Journals (Sweden)

    Alparslan Bayram Carli

    2015-08-01

    Full Text Available In nerve entrapment syndromes, an electrodiagnostic study during physical examination would usually suffice to assess localization of injury. However, in daily clinical practice, sometimes it may be necessary to depict the insight; in other words to use an imaging tool. From this point of view, with its manifold advantages, ultrasound (US is superior to other imaging technologies such as magnetic resonance imaging (MRI. According to a study, US increased the sensitivity of electrodiagnostic studies from 78% to 98%. By presenting a patient with cubital tunnel syndrome caused by hypertrophic scarring, we wanted to highlight the complementary role of US in nerve entrapment syndromes in confirming the entrapment, as well as the usefulness of it in the follow-up period of burn patients. [Hand Microsurg 2015; 4(2.000: 44-46

  20. [Case of prolonged recovery from serotonin syndrome caused by paroxetine].

    Science.gov (United States)

    Ochiai, Yusuke; Katsu, Hisatoshi; Okino, Shinji; Wakutsu, Noriyuki; Nakayama, Kazuhiko

    2003-01-01

    We report a case of serotonin syndrome in a patient being treated with paroxetine for depression. Despite prompt discontinuation of medication, his serotonin syndrome continued for 10 days before full consciousness was restored. The patient was a 48-year-old male with chief complaints of hypobulia and suicidal thoughts. He consulted as a psychiatric outpatient, and oral paroxetine 20 mg/day, etizolam 1.0 mg/day, and brotizolam 0.25 mg/day were immediately started. Upsurge of feeling and disinhibition state were noted the following day, then on treatment day 6 his condition deteriorated to substupor state and he was admitted for further treatment. On admission, change of mental condition (consciousness disturbance), perspiration, hyperreflexia, myoclonus and tremor were seen, and serotonin syndrome caused by paroxetine was suspected. Paroxetine was thus discontinued, and under intravenous drip his condition gradually improved. However, it was not until the 10th hospital day that he became fully alert. In examinations, no infectious, metabolic or organic diseases were detected. The patient's condition often improves with in 24 hours of discontinuation of the causative medication in serotonin syndrome. Symptoms continued for 10 days in this patient, however, perhaps because paroxetine was administered for 6 days before discontinuation. In addition, interaction with other medications may have occurred. Therefore, when serotonin syndrome is suspected, prompt discontinuation of the suspected causative medication, followed by close monitoring of the pharmacokinetics is warranted. PMID:15027311

  1. Prevalence and causes of back pain syndromes in children

    Directory of Open Access Journals (Sweden)

    A.A. Smirnova

    2014-05-01

    Full Text Available We present a review of literature devoted to epidemiology, and the nosological and syndromal structure of back pain in children. The data of our own study of school-aged children with back pain are presented. The structure of back pain syndromes in 105 children has been analyzed using the medical aid appealability data. The results of a comprehensive clinical and instrumental study demonstrated that the children mostly had lumbosacral pain (52.4% of cases; neck pain was observed in 29.5% of cases; while thoracic pain syndromes were observed in 18.1% of cases. Congenital defect of the connective tissue was diagnosed in 16.19% of children; congenital abnormalities of the spine, in 15.2%; scoliosis (idiopathic and secondary, in 8.6%; and Scheuermann-Mau's disease, in 5.71%. The conclusion has been made about the high prevalence of back pain in schoolchildren. Muscular tonic syndromes were prevailing in the clinical structure in children; radicular syndromes were less frequent. Musculoskeletal disorders were the main causes of back pain. Congenital defect of the connective tissue was often observed, which was revealed as functional instability of the vertebral motor segment, spondylolisthesis due to weak ligaments, and disc protrusions. Congenital abnormalities of the spine, scoliosis, and Scheuermann-Mau' disease were observed less often. 

  2. Lipoma causing Guyon's canal syndrome: a case report and review

    Directory of Open Access Journals (Sweden)

    Narayanathu Chellappantilla Sreekumar

    2014-12-01

    Full Text Available Compression of the ulnar nerve in Guyon's canal leads to Guyon's canal syndrome. Lipoma is a rare cause of such compressions with only 12 cases reported previously. We report a 55-year-old man who presented with swelling in the left hand with decreased sensation in the ring and little fingers. Magnetic resonance imaging revealed high signals in T1-weighted and T2-weighted images with suppression of the short T1 inversion recovery signal, suggestive of lipoma. On exploration a well-encapsulated, dumbbell-shaped, fatty tumor was seen in the hypothenar space and Guyon's canal. The tumor was enucleated in toto. At 6-month follow-up, the patient had fully regained sensation. A review of the literature is presented for similar cases where a lipoma was the cause of Guyon's canal syndrome.

  3. Unusual Cause of Childhood Anemia: Imerslund Grasbeck Syndrome

    OpenAIRE

    Kishan Prasad Hosapatna Laxminarayana; Sunil Kumar Yeshvanth; Shetty, Jayaprakash K; Harish S Permi; Chandrika Rao

    2011-01-01

    Imerslund Grasbeck syndrome (IGS) is a rare autosomal recessive childhood disorder characterized by selective Vitamin (vit) B 12 malabsorption with asymptomatic proteinuria without any structural renal pathology. The patients stay healthy for decades with life-long parenteral vit B12. We report a case of young female who presented with pancytopenia and proteinuria, evaluated in local hospitals as chronic hemolytic anemia (autoimmune cause), finally diagnosed as IGS on complete evaluation. She...

  4. Food protein induced enterocolitis syndrome caused by rice beverage

    OpenAIRE

    Caminiti, Lucia; Salzano,Giuseppina; Crisafulli, Giuseppe; Porcaro, Federica; Pajno, Giovanni Battista

    2013-01-01

    Food protein-induced enterocolitis syndrome (FPIES) is an uncommon and potentially severe non IgE-mediated gastrointestinal food allergy. It is usually caused by cow’s milk or soy proteins, but may also be triggered by ingestion of solid foods. The diagnosis is made on the basis of clinical history and symptoms. Management of acute phase requires fluid resuscitation and intravenous steroids administration, but avoidance of offending foods is the only effective therapeutic option. Infant with ...

  5. Causes of death in 2877 patients with myelodysplastic syndromes.

    Science.gov (United States)

    Nachtkamp, Kathrin; Stark, Romina; Strupp, Corinna; Kündgen, Andrea; Giagounidis, Aristoteles; Aul, Carlo; Hildebrandt, Barbara; Haas, Rainer; Gattermann, Norbert; Germing, Ulrich

    2016-05-01

    Patients with myelodysplastic syndromes face a poor prognosis. The exact causes of death have not been described properly in the past. We performed a retrospective analysis of causes of death using data of 3792 patients in the Düsseldorf registry who have been followed up for a median time of 21 months. Medical files as well as death certificates were screened and primary care physicians were contacted. Death after AML evolution, infection, and bleeding was considered to be clearly disease-related. Further categories of causes of death were heart failure, other possibly disease-related reasons, such as hemochromatosis, disease-independent reasons as well as cases with unclear causes of death. Median age at the time of diagnosis was 71 years. At the time of analysis, 2877 patients (75.9 %) had deceased. In 1212 cases (42.1 %), the exact cause of death could not be ascertained. From 1665 patients with a clearly documented cause of death, 1388 patients (83.4 %) succumbed directly disease-related (AML (46.6 %), infection (27.0 %), bleeding (9.8 %)), whereas 277 patients (16.6 %) died for reasons not directly related with myelodysplastic syndromes (MDS), including 132 patients with cardiac failure, 77 non-disease-related reasons, 23 patients with solid tumors, and 45 patients with possibly disease-related causes like hemochromatosis. Correlation with IPSS, IPSS-R, and WPSS categories showed a proportional increase of disease-related causes of death with increasing IPSS/IPSS-R/WPSS risk category. Likewise, therapy-related MDS were associated with a higher percentage of disease-related causes of death than primary MDS. This reflects the increasing influence of the underlying disease on the cause of death with increasing aggressiveness of the disease. PMID:27025507

  6. A Rare Cause of Heel Pain: Haglund’s Syndrome

    Directory of Open Access Journals (Sweden)

    Ümit DÜNDAR

    2008-04-01

    Full Text Available Pain in the posterior area of the heel may have different causes such as, insertion tendinitis of the achilles tendon, periostitis of calcaneus, bursitis and a Haglund exostosis. Haglund’s syndrome, or Haglund’s disease, is characterized by a painful bony prominence of the dorsal and lateral part of the calcaneus. Clinical symptoms are swelling in the cranial and lateral part of the calcaneus, sometimes pain on pressure on the achilles tendon and pain on active or passive dorsal and plantar flexion movement. A patient is presented here with posterior heel pain and diagnosed as Haglund’s syndrome. Turk J Phys Med Rehab 2008;54:33-5.

  7. Mutations in TMEM76* Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)

    OpenAIRE

    Hřebíček, Martin; Mrázová, Lenka; Seyrantepe, Volkan; Durand, Stéphanie; Roslin, Nicole M.; Nosková, Lenka; Hartmannová, Hana; Ivánek, Robert; Čížková, Alena; Poupětová, Helena; Sikora, Jakub; Uřinovská, Jana; Stránecký, Viktor; Zeman, Jiří; Lepage, Pierre

    2006-01-01

    Mucopolysaccharidosis IIIC (MPS IIIC, or Sanfilippo C syndrome) is a lysosomal storage disorder caused by the inherited deficiency of the lysosomal membrane enzyme acetyl–coenzyme A:α-glucosaminide N-acetyltransferase (N-acetyltransferase), which leads to impaired degradation of heparan sulfate. We report the narrowing of the candidate region to a 2.6-cM interval between D8S1051 and D8S1831 and the identification of the transmembrane protein 76 gene (TMEM76), which encodes a 73-kDa protein wi...

  8. Unusual cause of childhood anemia: Imerslund Grasbeck syndrome.

    Science.gov (United States)

    Laxminarayana, Kishan Prasad Hosapatna; Yeshvanth, Sunil Kumar; Shetty, Jayaprakash K; Permi, Harish S; Rao, Chandrika

    2011-07-01

    Imerslund Grasbeck syndrome (IGS) is a rare autosomal recessive childhood disorder characterized by selective Vitamin (vit) B 12 malabsorption with asymptomatic proteinuria without any structural renal pathology. The patients stay healthy for decades with life-long parenteral vit B12. We report a case of young female who presented with pancytopenia and proteinuria, evaluated in local hospitals as chronic hemolytic anemia (autoimmune cause), finally diagnosed as IGS on complete evaluation. She was treated with injectable vit B12 (1000 μg cyanocobalalmin) and showed drastic recovery. IGS should be considered in patients with megaloblastic anemia not responding to oral vit B12 and associated proteinuria. PMID:22219566

  9. Unusual cause of childhood anemia: Imerslund grasbeck syndrome

    Directory of Open Access Journals (Sweden)

    Kishan Prasad Hosapatna Laxminarayana

    2011-01-01

    Full Text Available Imerslund Grasbeck syndrome (IGS is a rare autosomal recessive childhood disorder characterized by selective Vitamin (vit B 12 malabsorption with asymptomatic proteinuria without any structural renal pathology. The patients stay healthy for decades with life-long parenteral vit B12. We report a case of young female who presented with pancytopenia and proteinuria, evaluated in local hospitals as chronic hemolytic anemia (autoimmune cause, finally diagnosed as IGS on complete evaluation. She was treated with injectable vit B12 (1000 μg cyanocobalalmin and showed drastic recovery. IGS should be considered in patients with megaloblastic anemia not responding to oral vit B12 and associated proteinuria.

  10. Subacromial Impingement Syndrome Caused by a Voluminous Subdeltoid Lipoma

    Directory of Open Access Journals (Sweden)

    Jean-Christophe Murray

    2014-01-01

    Full Text Available Subacromial impingement syndrome is a clinical diagnosis encompassing a spectrum of possible etiologies, including subacromial bursitis, rotator cuff tendinopathy, and partial- to full-thickness rotator cuff tears. This report presents an unusual case of subdeltoid lipoma causing extrinsic compression and subacromial impingement syndrome. The patient, a 60-year-old man, presented to our institution with a few years' history of nontraumatic, posteriorly localized throbbing pain in his right shoulder. Despite a well-followed 6-months physiotherapy program, the patient was still suffering from his right shoulder. The MRI scan revealed a well-circumscribed 6 cm × 2 cm × 5 cm homogenous lesion compatible with a subdeltoid intermuscular lipoma. The mass was excised en bloc, and subsequent histopathologic examination confirmed a benign lipoma. At 6-months follow-up, the patient was asymptomatic with a complete return to his activities. Based on this case and a review of the literature, a subacromial lipoma has to be included in the differential diagnosis of a subacromial impingement syndrome refractory to nonoperative treatment. Complementary imaging modalities are required only after a failed conservative management to assess the exact etiology and successfully direct the surgical treatment.

  11. CtIP Mutations Cause Seckel and Jawad Syndromes.

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    Per Qvist

    2011-10-01

    Full Text Available Seckel syndrome is a recessively inherited dwarfism disorder characterized by microcephaly and a unique head profile. Genetically, it constitutes a heterogeneous condition, with several loci mapped (SCKL1-5 but only three disease genes identified: the ATR, CENPJ, and CEP152 genes that control cellular responses to DNA damage. We previously mapped a Seckel syndrome locus to chromosome 18p11.31-q11.2 (SCKL2. Here, we report two mutations in the CtIP (RBBP8 gene within this locus that result in expression of C-terminally truncated forms of CtIP. We propose that these mutations are the molecular cause of the disease observed in the previously described SCKL2 family and in an additional unrelated family diagnosed with a similar form of congenital microcephaly termed Jawad syndrome. While an exonic frameshift mutation was found in the Jawad family, the SCKL2 family carries a splicing mutation that yields a dominant-negative form of CtIP. Further characterization of cell lines derived from the SCKL2 family revealed defective DNA damage induced formation of single-stranded DNA, a critical co-factor for ATR activation. Accordingly, SCKL2 cells present a lowered apoptopic threshold and hypersensitivity to DNA damage. Notably, over-expression of a comparable truncated CtIP variant in non-Seckel cells recapitulates SCKL2 cellular phenotypes in a dose-dependent manner. This work thus identifies CtIP as a disease gene for Seckel and Jawad syndromes and defines a new type of genetic disease mechanism in which a dominant negative mutation yields a recessively inherited disorder.

  12. Mutations in CDK5RAP2 cause Seckel syndrome

    OpenAIRE

    Karabey Kayserili, Hülya; Yiğit, G.; Brown, KE.; Pohl, E.; Caliebe, A.; Zahnleiter, D.; Rosser, E.; Bögershausen, N.; Uyguner, ZO.; Altunoğlu, U.; Nürnberg, G.; Nürnberg, P.; Rauch, A.; Li, Y.; Thiel, CT.; Wollnik, B.

    2015-01-01

    ORIGINAL ARTICLE Mutations in CDK5RAP2 cause Seckel syndrome Go¨ khan Yigit1,2,3,a, Karen E. Brown4,a, Hu¨ lya Kayserili5, Esther Pohl1,2,3, Almuth Caliebe6, Diana Zahnleiter7, Elisabeth Rosser8, Nina Bo¨ gershausen1,2,3, Zehra Oya Uyguner5, Umut Altunoglu5, Gudrun Nu¨ rnberg2,3,9, Peter Nu¨ rnberg2,3,9, Anita Rauch10, Yun Li1,2,3, Christian Thomas Thiel7 & Bernd Wollnik1,2,3 1Institute of Human Genetics, University of Cologne, Cologne, Germany 2Center for Molecular Medic...

  13. Is fructose malabsorption a cause of irritable bowel syndrome?

    Science.gov (United States)

    DiNicolantonio, James J; Lucan, Sean C

    2015-09-01

    Irritable Bowel Syndrome (IBS) is a condition that may be marked by abdominal pain, bloating, fullness, indigestion, belching, constipation and/or diarrhea. IBS symptoms can result from malabsorption of fructose. Fructose is a monosaccharide found naturally in small quantities in fruits and some vegetables, and in much larger quantities in industrially manufactured sweets with added sugars (e.g. sucrose and high fructose corn syrup). Fructose malabsorption leads to osmotic diarrhea as well as gas and bloating due to fermentation in the colon. A low-fructose diet has been found to improve IBS symptoms in some patients. This paper discusses the prevalence of fructose malabsorption and considers fructose ingestion as a possible cause of--and fructose restriction as a possible dietary treatment for--IBS. PMID:26059250

  14. [Fungemia caused by Scedosporium prolificans in myelodysplastic syndrome].

    Science.gov (United States)

    Nishio, Hisaaki; Utsumi, Takahiko; Nakamura, Yukiko; Suzuki, Takayo; Kamei, Katsuhiko; Saitoh, Takashi

    2012-01-01

    We report a case of fungemia caused by Scedosporium prolificans, an emerging pathogen. An 83-year-old man with myelodysplastic syndrome (MDS) and agranulocytosis was admitted for pneumonia in January 2009. He was treated with meropenem, minocycline, and gamma-globulin for pneumonia and G-CSF and platelet transfusion for MDS. Although he recovered from pneumonia as neutrophil count increased, intermittent fever continued. On hospital day 17, blood culture yielded fungal colonies indicating S. prolificans. Voriconazole was started immediately, but the man's general condition deteriorated with cerebral infarction and he died of cerebral hemorrhage on hospital day 65. Attention must therefore be paid to the increasing scedosporiosis incidence in Japan. PMID:22416481

  15. Hennekam syndrome: a rare cause of primary lymphedema

    OpenAIRE

    Elmansour, Imane; Chiheb, Soumia; Benchikhi, Hakima

    2014-01-01

    Hennekam syndrome (HS) is an autosomal recessive disorder characterized by the association of lymphedema, intestinal lymphangiectasia, moderate mental retardation, and facial dysmorphism. We describe a 14-year-old girl affected with Hennekam syndrome.

  16. Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF

    OpenAIRE

    Smith, S.; Kelley, P.; Kenyon, J.; Hoover, D.

    2000-01-01

    Patients with Tietz syndrome have congenital profound deafness and generalised hypopigmentation, inherited in a fully penetrant autosomal dominant fashion. The pigmentary features and complete penetrance make this syndrome distinct among syndromes with pigmentary anomalies and deafness, which characteristically have patchy depigmentation and variable penetrance. Only one family has been reported with the exact features described in the original report of this syndrome. This family was reascer...

  17. A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.

    Science.gov (United States)

    Dubruc, Estelle; Putoux, Audrey; Labalme, Audrey; Rougeot, Christelle; Sanlaville, Damien; Edery, Patrick

    2014-06-01

    A girl patient born to healthy nonconsanguineous parents was referred at age 3 years and 2 months to our genetics department for testing due to developmental delay and postnatal microcephaly. Initial clinical evaluation revealed an overall developmental delay, mildly dysmorphic features, thin, sparse fair hair, and fair skin. Postnatal microcephaly and progressive ataxia and spasticity appeared later. Array CGH karyotyping showed a 333 kb de novo microdeletion on 3p22 covering the entire genomic sequence of a single gene, CTNNB1, which codes for β-catenin. β-catenin is a sub-unit of a multiprotein complex, which is part of the Wnt signaling pathway. In mice, a conditional homozygous β-catenin knockout displays loss of neurons, impaired craniofacial development, and hair follicle defects, which is similar to the phenotype presented by the patient described in this clinical report. Thus, CTNNB1 haploinsufficiency causes neuronal loss, craniofacial anomalies and hair follicle defects in both humans and mice. Point mutations in CTNNB1 in human have recently been reported but this is the first observation of a new recognizable multiple congenital anomaly/mental retardation syndrome caused by CTNNB1 haploinsufficiency. This clinical report should prompt a search for point mutations in CTNNB1 in patients presenting developmental delay, mild hair, skin and facial anomalies, and neurodegeneration characterized by postnatal microcephaly, and progressive ataxia and spasticity. © 2014 Wiley Periodicals, Inc. PMID:24668549

  18. Nephrotic syndrome in hand, foot and mouth disease caused by coxsackievirus A16: a case report

    OpenAIRE

    Hong-Tao Zhou; Bing Wang; Xiao-Yan Che

    2014-01-01

    Some viruses, including certain members of the enterovirus genus, have been reported to cause nephrotic syndrome. However, no case of coxsackievirus A16 (CVA16)-related nephrotic syndrome has been reported so far. We describe a case of CVA16-related hand, foot and mouth disease presenting with nephrotic syndrome in a 3-year-old boy. This is the first report of CVA16-related nephrotic syndrome.

  19. A rare cause of tall stature: Sotos syndrome

    Directory of Open Access Journals (Sweden)

    Nagehan Aslan

    2014-12-01

    Full Text Available Sotos syndrome is an excessive growth syndrome and is characterized by macrocephaly, typical facial appearance and mental retardation. The majority of cases are sporadic, autosomal dominant inheritance pattern matching families have been reported. Syndrome responsible for gen encodes the nuclear receptor-binding SET domain1 (NSD1 protein. This rare genetic syndrome firstly described by Sotos et al. in 1964 at five cases with excessive height, acromegalic appearance and mild mental retardation. Hairline high forehead, macrocephaly, frontal bossing, long and thin face, frontotemporal hair sparseness, down slanting palpebral fissures and prominent mandible creating characteristic facial appearance and advanced bone age and varying degrees of mental retardation are other diagnostic criteria. Cardiovascular, central nervous system and genitourinary system anomalies may be associated with syndrome. In this case report we presenting a case who admitted to our clinic because of the rapid growth and mild mental retardation and diagnosed with Sotos syndrome for emphasize the importance of growth monitoring.

  20. Genetic syndromes caused by mutations in epigenetic genes.

    Science.gov (United States)

    Berdasco, María; Esteller, Manel

    2013-04-01

    The orchestrated organization of epigenetic factors that control chromatin dynamism, including DNA methylation, histone marks, non-coding RNAs (ncRNAs) and chromatin-remodeling proteins, is essential for the proper function of tissue homeostasis, cell identity and development. Indeed, deregulation of epigenetic profiles has been described in several human pathologies, including complex diseases (such as cancer, cardiovascular and neurological diseases), metabolic pathologies (type 2 diabetes and obesity) and imprinting disorders. Over the last decade it has become increasingly clear that mutations of genes involved in epigenetic mechanism, such as DNA methyltransferases, methyl-binding domain proteins, histone deacetylases, histone methylases and members of the SWI/SNF family of chromatin remodelers are linked to human disorders, including Immunodeficiency Centromeric instability Facial syndrome 1, Rett syndrome, Rubinstein-Taybi syndrome, Sotos syndrome or alpha-thalassemia/mental retardation X-linked syndrome, among others. As new members of the epigenetic machinery are described, the number of human syndromes associated with epigenetic alterations increases. As recent examples, mutations of histone demethylases and members of the non-coding RNA machinery have recently been associated with Kabuki syndrome, Claes-Jensen X-linked mental retardation syndrome and Goiter syndrome. In this review, we describe the variety of germline mutations of epigenetic modifiers that are known to be associated with human disorders, and discuss the therapeutic potential of epigenetic drugs as palliative care strategies in the treatment of such disorders. PMID:23370504

  1. Mitochondrial disorder caused Charles Darwin's cyclic vomiting syndrome

    Directory of Open Access Journals (Sweden)

    Finsterer J

    2014-01-01

    Full Text Available Josef Finsterer,1 John Hayman21Krankenanstalt Rudolfstiftng, Vienna, Austria; 2Department of Pathology, University of Melbourne, Victoria, AustraliaBackground: Charles Darwin (CD, “father of modern biology,” suffered from multisystem illness from early adulthood. The most disabling manifestation was cyclic vomiting syndrome (CVS. This study aims at finding the possible cause of CVS in CD.Methods: A literature search using the PubMed database was carried out, and CD's complaints, as reported in his personal writings and those of his relatives, friends, colleagues, biographers, were compared with various manifestations of mitochondrial disorders (MIDs, known to cause CVS, described in the literature.Results: Organ tissues involved in CD's disease were brain, nerves, muscles, vestibular apparatus, heart, gut, and skin. Cerebral manifestations included episodic headache, visual disturbance, episodic memory loss, periodic paralysis, hysterical crying, panic attacks, and episodes of depression. Manifestations of polyneuropathy included numbness, paresthesias, increased sweating, temperature sensitivity, and arterial hypotension. Muscular manifestations included periods of exhaustion, easy fatigability, myalgia, and muscle twitching. Cardiac manifestations included episodes of palpitations and chest pain. Gastrointestinal manifestations were CVS, dental problems, abnormal seasickness, eructation, belching, and flatulence. Dermatological manifestations included painful lips, dermatitis, eczema, and facial edema. Treatments with beneficial effects to his complaints were rest, relaxation, heat, and hydrotherapy.Conclusion: CVS in CD was most likely due to a multisystem, nonsyndromic MID. This diagnosis is based upon the multisystem nature of his disease, the fact that CVS is most frequently the manifestation of a MID, the family history, the variable phenotypic expression between affected family members, the fact that symptoms were triggered by stress

  2. Coracoid syndrome: a neglected cause of anterior shoulder pain

    Science.gov (United States)

    GIGANTE, ANTONIO; BOTTEGONI, CARLO; BARBADORO, PAMELA

    2016-01-01

    Purpose the present prospective open-label study was designed to gain further insights into a condition thought to constitute a neglected but not uncommon syndrome characterized by anterior shoulder pain and tenderness to palpation over the apex of the coracoid process, not related to rotator cuff or pectoralis minor tendinopathy, long head of the biceps tendon disorders, or instability. The aim was to clarify its prevalence, clinical characteristics, differential diagnosis and response to corticosteroid injections. Methods patients with primary anterior shoulder pain precisely reproduced by deep pressure on the apex of the coracoid process were recruited. Patients with clinical or instrumental signs of other shoulder disorders were excluded. Patients were given an injection of triamcinolone acetonide 40 mg/ml 1 ml at the coracoid trigger point. They were evaluated after 15, 30 and 60 days and at 2 years using Equal Visual Analog Scale (EQ-VAS) and the Italian version of the Simple Shoulder Test (SST). Results between January 1 and December 31 2010, we treated 15 patients aged 26–66 years. The majority were women (86.67%). At 15 days, 6 (40%) patients reported complete resolution of their symptoms, while 9 (60%) complained of residual symptoms and received another injection. At 30 days, 14 (93.33%) patients were pain-free and very satisfied. At 2 years, the 14 patients who had been asymptomatic at 30 days reported that they had experienced no further pain or impaired shoulder function. The analysis of variance for repeated measures showed a significant effect of time on EQ-VAS and SST scores. Conclusions the present study documents the existence, and characteristics, of a “coracoid syndrome” characterized by anterior shoulder pain and tenderness to palpation over the apex of the coracoid process and showed that the pain is usually amenable to steroid treatment. This syndrome should be clearly distinguished from anterior shoulder pain due to other causes, in

  3. Food protein induced enterocolitis syndrome caused by rice beverage.

    Science.gov (United States)

    Caminiti, Lucia; Salzano, Giuseppina; Crisafulli, Giuseppe; Porcaro, Federica; Pajno, Giovanni Battista

    2013-01-01

    Food protein-induced enterocolitis syndrome (FPIES) is an uncommon and potentially severe non IgE-mediated gastrointestinal food allergy. It is usually caused by cow's milk or soy proteins, but may also be triggered by ingestion of solid foods. The diagnosis is made on the basis of clinical history and symptoms. Management of acute phase requires fluid resuscitation and intravenous steroids administration, but avoidance of offending foods is the only effective therapeutic option.Infant with FPIES presented to our emergency department with vomiting, watery stools, hypothension and metabolic acidosis after ingestion of rice beverage. Intravenous fluids and steroids were administered with good clinical response. Subsequently, a double blind placebo control food challenge (DBPCFC) was performed using rice beverage and hydrolyzed formula (eHF) as placebo. The "rice based formula" induced emesis, diarrhoea and lethargy. Laboratory investigations reveal an increase of absolute count of neutrophils and the presence of faecal eosinophils. The patient was treated with both intravenous hydration and steroids. According to Powell criteria, oral food challenge was considered positive and diagnosis of FPIES induced by rice beverage was made. Patient was discharged at home with the indication to avoid rice and any rice beverage as well as to reintroduce hydrolyzed formula. A case of FPIES induced by rice beverage has never been reported. The present case clearly shows that also beverage containing rice proteins can be responsible of FPIES. For this reason, the use of rice beverage as cow's milk substitute for the treatment of non IgE-mediated food allergy should be avoided. PMID:23672828

  4. A Rare Cause of Pheochromocytoma; Neurofibromatosis Type 1-Noonan Syndrome

    Directory of Open Access Journals (Sweden)

    Mazhar Müslüm Tuna

    2014-09-01

    Full Text Available Neurofibromatosis (NF Type 1 (NF-1 is an autosomal dominant disease with a prevalence of about 1/3000. NF-1 is a neurocutaneous syndrome characterized by cafe au lait macules, neurofibroma, optic glioma, lisch nodules, and symptoms involving other systems. Noonan syndrome (NS is a clinically heterogeneous disorder predominantly characterized by dysmorphic facial features, congenital heart disease, proportionate post-natal short stature, neck abnormalities, and chest deformities. NF-NS is a very rare overlapping syndrome sharing many features of both syndromes. Coexistence of pheochromocytoma, which can be life-threatening if not treated properly, is also a very rare complication of this disorder. Here, we report a patient who was admitted with a mass in the right upper quadrant and was diagnosed with pheochromocytoma and NFNS. (The Me­di­cal Bul­le­tin of Ha­se­ki 2014; 52: 227-31

  5. Acute radiation syndrome caused by accidental radiation exposure - therapeutic principles

    Directory of Open Access Journals (Sweden)

    Dörr Harald

    2011-11-01

    Full Text Available Abstract Fortunately radiation accidents are infrequent occurrences, but since they have the potential of large scale events like the nuclear accidents of Chernobyl and Fukushima, preparatory planning of the medical management of radiation accident victims is very important. Radiation accidents can result in different types of radiation exposure for which the diagnostic and therapeutic measures, as well as the outcomes, differ. The clinical course of acute radiation syndrome depends on the absorbed radiation dose and its distribution. Multi-organ-involvement and multi-organ-failure need be taken into account. The most vulnerable organ system to radiation exposure is the hematopoietic system. In addition to hematopoietic syndrome, radiation induced damage to the skin plays an important role in diagnostics and the treatment of radiation accident victims. The most important therapeutic principles with special reference to hematopoietic syndrome and cutaneous radiation syndrome are reviewed.

  6. A Very Rare Cause of Anal Atresia: Currarino Syndrome.

    Science.gov (United States)

    Buyukbese Sarsu, Sevgi; Parmaksiz, Mehmet Ergun; Cabalar, Esra; Karapur, Ali; Kaya, Cihat

    2016-05-01

    Currarino syndrome (triad) is an extremely rare condition characterized by presacral mass, anorectal malformation, and sacral bone deformation. The complete form of this syndrome displays all three irregularities. Herein, we report a male case who was admitted to our hospital with symptoms of urinary system infection and persistent constipation 2 years after colostomy operation performed with the indication of rectovestibular fistula and anal atresia, diagnosed as Currarino syndrome based on imaging modalities. In a patient who was admitted because of the presence of anal atresia, in order to preclude potential complications, probable concomitancy of this syndrome should not be forgotten. Early diagnosis is important for the prevention of meningitis, urinary tract infections, and malignant change. PMID:27081429

  7. Immotile cilia syndrome: a new cause of neonatal respiratory distress.

    OpenAIRE

    Whitelaw, A; Evans, A.; Corrin, B.

    1981-01-01

    Kartagener's syndrome is a condition that consists of situs inversus, bronchiectasis, and sinusitis. Some patients have respiratory symptoms that date from early infancy, and electron microscopical examination has shown that adults with this condition lack dynein arms in ciliary microtubules. It has been suggested that an inherited defect in ciliary ultrastructure, the immotile cilia, is the basis for the syndrome. We report 6 patients who presented within the first 24 hours of life with tac...

  8. Tenofovir induced Fanconi syndrome: A rare cause of hypokalemic paralysis

    OpenAIRE

    E P Venkatesan; Pranesh, M. B.; G Gnanashanmugam; Balasubramaniam, J.

    2014-01-01

    We report a 55-year-old female who presented to the emergency department with acute onset quadriparesis. She was diagnosed to have acquired immunodeficiency syndrome 7 years ago and was on tenofovir based anti-retroviral therapy for past 10 months. As the patient also had hypophosphatemia, glucosuria and proteinuria Fanconi syndrome (FS) was suspected. She improved dramatically over next 12 h to regain normal power and also her renal functions improved over next few days. Tenofovir induced FS...

  9. MIDAS syndrome respectively MLS syndrome: A separate entity rather than a particular lyonization pattern of the gene causing Goltz syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Muecke, J. [Saarland Univ. of Homburg (Germany); Happle, R. [Univ. of Marburg (Germany); Theile, H. [Univ. of Leipzig (Germany)

    1995-05-22

    Although it is true that MIDAS syndrome, Aicardi syndrome and Goltz syndrome show the same transmission, representing X-linked dominant traits with lethality of hemizygote male embryos, and have a number of anomalies such as defects of the eyes or brain in common, it should be noted that MIDAS syndrome and Goltz syndrome have so far never occurred as alternating phenotypes within the same family. In addition, the observation of MIDAS syndrome in a mother and her daughter lends additional support to the notion that this syndrome represents a distinct entity. 3 refs., 4 figs.

  10. Microtia Reconstruction and Postsurgical Grisel’s Syndrome: A Rare Cause of Torticollis in a Child

    OpenAIRE

    Jay Ching Chieh Wang, MD; Claudia Malic, MD, FRCS (Plast); Christopher Reilly, MD, FRCSC; Cynthia Verchere, MD, FRCSC

    2014-01-01

    Summary: Grisel’s syndrome is an unusual but important cause of torticollis which may be encountered in a pediatric plastic surgery practice, where craniofacial and oropharyngeal surgeries are commonly performed. Grisel’s syndrome is characterized by painful torticollis and limited cervical rotation, and the diagnosis is confirmed via radiologic imaging. Initial management of Grisel’s syndrome is with anti-inflammatories and in some cases antibiotics. In unresolving or recurrent cases, more i...

  11. A black adrenocortical adenoma causing Cushing's syndrome not imaged by radiocholesterol scintigraphy

    International Nuclear Information System (INIS)

    In a 33-year-old female patient with left adrenal tumour and Cushing's syndrome, adrenocortical scintigraphy with radiocholesterol did not image the tumour nor the suppressed contralateral gland. Histology showed a black adrenocortical adenoma composed only of compact cells; there was no evidence of malignancy. This demonstrates that non-visualization of the adrenal glands in a patient with Cushing's syndrome is not invariably due to adrenal carcinoma. The literature on black adrenal adenomas causing Cushing's syndrome is reviewed. (orig.)

  12. A rare cause of renal colic pain: Chilaiditi syndrome

    Directory of Open Access Journals (Sweden)

    Murat Tuncer

    2014-09-01

    Full Text Available Chilaiditi syndrome, first described in 1910 by the radiologist Chilaiditi from Vienna, is the interposition of right colon between liver and right hemi diaphragm. It occurs most often in males and its incidence increases with age. It is often detected incidentally during radiological examination. It’s rarely symptomatic; symptoms can differ from mild abdominal pain to severe acute intestinal obstruction. Our case applied to emergency service with right flank pain. There was no calculus or dilatation in the urinary system at non-contrast abdominopelvic computerized tomography. Ascending colon was interposed between liver and diaphragm so that the patient was diagnosed as Chiliaditi syndrome. The patient was treated conservatively and discharged with dietary suggestions by the gastroenterology consultant. The conclusion of this report is that the Chilaiditi syndrome must be considered in differential diagnosis for patients presenting with urinary colic pain symptoms with no urinary pathology on radiologic imaging.

  13. Systemic Multiple Aneurysms Caused by Vascular Ehlers-Danlos Syndrome.

    Science.gov (United States)

    Gui, Xinyu; Li, Fangda; Wu, Lingeer; Zheng, Yuehong

    2016-07-01

    Systemic multiple aneurysms are rare and usually associated with collagen tissue disease, such as Ehlers-Danlos syndrome (EDS) or Marfan syndrome. In the present case, we describe a 39-year-old male patient with systemic multiple aneurysms and acute intraperitoneal hemorrhage who was clinically diagnosed with vascular EDS. Coil embolization of the distal segment of the common hepatic artery was performed, which resolved the patient's symptoms. With this case presentation, we aim to increase the awareness of vascular EDS among clinicians and emphasize the extreme fragility of the arteries in patients with vascular EDS. PMID:27206743

  14. Tenofovir induced Fanconi syndrome: A rare cause of hypokalemic paralysis.

    Science.gov (United States)

    Venkatesan, E P; Pranesh, M B; Gnanashanmugam, G; Balasubramaniam, J

    2014-03-01

    We report a 55-year-old female who presented to the emergency department with acute onset quadriparesis. She was diagnosed to have acquired immunodeficiency syndrome 7 years ago and was on tenofovir based anti-retroviral therapy for past 10 months. As the patient also had hypophosphatemia, glucosuria and proteinuria Fanconi syndrome (FS) was suspected. She improved dramatically over next 12 h to regain normal power and also her renal functions improved over next few days. Tenofovir induced FS presenting as hypokalemic paralysis is very rare complication and is the first case reported from India. PMID:24701043

  15. A Rare Cause of Congenital Hypotonia: Walker Warburg Syndrome

    Directory of Open Access Journals (Sweden)

    Cigdem Sivrice

    2014-08-01

    Full Text Available Walker-Warburg syndrome (WWS is an autosomal recessive rare muscle disease which characterized by type 2 lissencephaly, cerebellar abnormalities, and congenital muscular dystrophy of the retinal abnormalities. In this article, we described a patient who born from 1st degree consanguineous marriage mother and father and admitted to our hospital suction weakness and had been diagnosed Walker- Warburg syndrome with physical examination and laboratory tests as a result of severe hypotonia, atypical facial appearance, accompanying eye and brain abnormalities are very high serum creatine phosphokinase levels and wanted to draw attention to this rare muscle disease in the differential diagnosis of hypotonic infants.

  16. Mutations in CDK5RAP2 cause Seckel syndrome

    OpenAIRE

    Karabey Kayserili, Hülya; Yiğit, G.; Brown, KE.; Pohl, E.; Caliebe, A.; Zahnleiter, D.; Rosser, E.; Bögershausen, N.; Uyguner, ZO.; Altunoğlu, U.; Nürnberg, G.; Nürnberg, P.; Rauch, A.; Li, Y.; Thiel, CT.; Wollnik, B.

    2015-01-01

    Seckel syndrome is a heterogeneous, autosomal recessive disorder marked by prenatal proportionate short stature, severe microcephaly, intellectual disability, and characteristic facial features. Here, we describe the novel homozygous splice-site mutations c.383+1G>C and c.4005-9A>G in CDK5RAP2 in two consanguineous families with Seckel syndrome. CDK5RAP2 (CEP215) encodes a centrosomal protein which is known to be essential for centrosomal cohesion and proper spindle formation and has been sho...

  17. Determining the Amount, Timing and Causes of Mortality among Infants with Down Syndrome

    Science.gov (United States)

    Goldman, S. E.; Urbano, R. C.; Hodapp, R. M.

    2011-01-01

    Objective: To examine the amount, timing and causes/correlates of infant mortality among newborns with Down syndrome. Methods: Using the Tennessee Department of Health Birth, Hospital Discharge and Death records, infants were identified who were born with Down syndrome from 1990 to 2006. Those who died during the first year were separated into…

  18. Alström syndrome – an uncommon cause of early childhood retinal dystrophy

    OpenAIRE

    Sheck, Leo; Al-Taie, Rasha; Sharp, Dianne; Vincent, Andrea

    2011-01-01

    Alström syndrome (AS) is a ciliopathy and an uncommon cause of syndromic retinal dystrophy. This case reports findings in a 5-year-old boy with severe early onset retinal dystrophy, and how the recognition of extraocular features with genetic analysis led to the correct diagnosis of AS after 4 years of investigation.

  19. Horner's syndrome caused by an intercostal chest drain.

    OpenAIRE

    P. Campbell; Neil, T; Wake, P. N.

    1989-01-01

    Horner's syndrome occurred in a young woman as a complication of the treatment of a traumatic pneumothorax with an intercostal drain. The nerve damage probably occurred when the lung had fully re-expanded, pressing the tip of the intercostal drain, lying at the apex of the pleural cavity, on to the sympathetic chain.

  20. Dominant missense mutations in ABCC9 cause Cantu syndrome.

    NARCIS (Netherlands)

    Harakalova, M.; Harssel, J.J. van; Terhal, P.A.; Lieshout, S. van; Duran, K.; Renkens, I.; Amor, D.J.; Wilson, L.C.; Kirk, E.P.; Turner, C.L.; Shears, D.; Garcia-Minaur, S.; Lees, M.M.; Ross, A.; Venselaar, H.; Vriend, G.; Takanari, H.; Rook, M.B.; Heyden, M.A. van der; Asselbergs, F.W.; Breur, H.M.; Swinkels, M.E.; Scurr, I.J.; Smithson, S.F.; Knoers, N.V.A.M.; Smagt, J.J. van der; Nijman, I.J.; Kloosterman, W.P.; Haelst, M.M. van; Haaften, G. van; Cuppen, E.

    2012-01-01

    Cantu syndrome is characterized by congenital hypertrichosis, distinctive facial features, osteochondrodysplasia and cardiac defects. By using family-based exome sequencing, we identified a de novo mutation in ABCC9. Subsequently, we discovered novel dominant missense mutations in ABCC9 in 14 of the

  1. Dominant missense mutations in ABCC9 cause Cantu syndrome

    NARCIS (Netherlands)

    Harakalova, M.; van Harssel, J.J.; Terhal, P.A.; van Lieshout, S.; Duran, K.; Renkens, I.; Amor, D.J.; Wilson, L.C.; Kirk, E.P.; Turner, C.L.; Shears, D.; Garcia-Minaur, S.; Lees, M.M.; Ross, A.; Venselaar, H.; Vriend, G.; Takanari, H.; Rook, M.B.; van der Heyden, M.A.; Asselbergs, F.W.; Breur, H.M.; Swinkels, M.E.; Scurr, I.J.; Smithson, S.F.; Knoers, N.V.; van der Smagt, J.J.; Nijman, I.J.; Kloosterman, W.P.; van Haelst, M.M.; van Haaften, G.; Cuppen, E.

    2012-01-01

    Cantu syndrome is characterized by congenital hypertrichosis, distinctive facial features, osteochondrodysplasia and cardiac defects. By using family-based exome sequencing, we identified a de novo mutation in ABCC9. Subsequently, we discovered novel dominant missense mutations in ABCC9 in 14 of the

  2. J wave syndromes as a cause of sudden arrhythmic death

    Directory of Open Access Journals (Sweden)

    Charles Antzelevitch

    2013-06-01

    Full Text Available Accentuated J waves have been associated with idiopathic ventricular tachycardia and fibrillation (VT/VF for nearly three decades. Prominent J waves characterize both Brugada and early repolarization syndromes leading to their designation as J wave syndromes. An early repolarization (ER pattern, characterized by J point elevation, slurring of the terminal part of the QRS and ST segment elevation was considered to be a totally benign electrocardiographic manifestation until a decade ago. Recent casecontrol and population-based association studies have advanced evidence that an ER pattern in the inferior or infero-lateral leads is associated with increased risk for life-threatening arrhythmias, named early repolarization syndrome (ERS. ERS and Brugada syndrome (BrS share similar electrocardiogram features, clinical outcomes, risk factors as well as a common arrhythmic platform related to amplification of Ito-mediated J waves. Although BrS and ERS differ with respect to the magnitude and lead location of abnormal J wave manifestation, they are thought to represent a continuous spectrum of phenotypic expression, termed J wave syndromes. A classification scheme for ERS has been proposed: type 1, displaying an ER pattern predominantly in the lateral precordial leads, is considered to be largely benign; type 2, displaying an ER pattern predominantly in inferior or infero-lateral leads, is associated with a higher level of risk; whereas type 3, displaying an ER pattern globally in inferior, lateral and right precordial leads, is associated with the highest level of risk for development of malignant arrhythmias and is often associated with VF storms.

  3. Cervical Disc Herniation Causing Brown-Séquard's Syndrome: A Case Report and Literature Review

    Directory of Open Access Journals (Sweden)

    Tarush Rustagi

    2011-01-01

    Full Text Available Brown-Séquard's syndrome (BSS is caused by hemisection or hemicompression of the cord leading to ipsilateral motor deficit and contralateral sensory loss. Cervical disc herniation has been reported to be a rare cause of Brown-Séquard's syndrome. We describe a rare case of multilevel cervical disc herniation presenting as BSS. The condition was confirmed by MRI scan. Cervical corpectomy, decompression, and fusion gave a satisfying result. Pertinent literature has been reviewed.

  4. Catatonia in Down syndrome; a treatable cause of regression

    OpenAIRE

    Ghaziuddin, Neera; Nassiri, Armin; Miles, Judith H.

    2015-01-01

    Objective: The main aim of this case series report is to alert physicians to the occurrence of catatonia in Down syndrome (DS). A second aim is to stimulate the study of regression in DS and of catatonia. A subset of individuals with DS is noted to experience unexplained regression in behavior, mood, activities of daily living, motor activities, and intellectual functioning during adolescence or young adulthood. Depression, early onset Alzheimer’s, or just “the Down syndrome” are often blamed...

  5. Therapeutic Management of Hypothenar Hammer Syndrome Causing Ulnar Nerve Entrapment

    OpenAIRE

    Nicolò Scuderi; Liliana De Santo; Giampaolo Monacelli; Mauro Tarallo; Anna Maria Spagnoli; Emanuele Cigna

    2010-01-01

    Introduction. The hypothenar hammer syndrome is a rare traumatic vascular disease of the hand. Method and Materials. We report the case of a 43-years-old man with a painful tumefaction of the left hypothenar region. The ulnar artery appeared thrombosed clinically and radiologically. The patient underwent surgery to resolve the ulnar nerve compression and revascularise the artery. Results. The symptoms disappeared immediately after surgery. The arterial flow was reestablished. Postoperatively ...

  6. Atypicality in presentation of neuroleptic malignant syndrome caused by olanzapine

    OpenAIRE

    Mishra Biswaranjan; Mishra Baikunthanath; Sahoo Saddichha; Arora Manu; Khess C.R.J

    2007-01-01

    Neuroleptic malignant syndrome (NMS) is the most serious of acute neurological side effects produced by antipsychotic medication, characterized by hyperthermia, rigidity, altered consciousness and autonomic dysfunction, the prevalence of which varies from 0.4-1.4%. NMS is usually seen in treatment with high potency typical antipsychotics and very rarely with atypical antipsychotics. However, NMS cases have been reported with risperidone, clozapine, olanzapine and quetiapine. The presen...

  7. Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome

    OpenAIRE

    Mayr, Johannes A.; Haack, Tobias B.; Graf, Elisabeth; Zimmermann, Franz A.; Wieland, Thomas; Haberberger, Birgit; Superti-Furga, Andrea; Kirschner, Janbernd; Steinmann, Beat; Baumgartner, Matthias R.; Moroni, Isabella; Lamantea, Eleonora; Zeviani, Massimo; Rodenburg, Richard J.; Smeitink, Jan

    2012-01-01

    Exome sequencing of an individual with congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, and lactic acidosis, all typical symptoms of Sengers syndrome, discovered two nonsense mutations in the gene encoding mitochondrial acylglycerol kinase (AGK). Mutation screening of AGK in further individuals with congenital cataracts and cardiomyopathy identified numerous loss-of-function mutations in an additional eight families, confirming the causal nature of AGK deficiency in Senge...

  8. Acute radiation syndrome caused by accidental radiation exposure - therapeutic principles

    OpenAIRE

    Dörr Harald; Meineke Viktor

    2011-01-01

    Abstract Fortunately radiation accidents are infrequent occurrences, but since they have the potential of large scale events like the nuclear accidents of Chernobyl and Fukushima, preparatory planning of the medical management of radiation accident victims is very important. Radiation accidents can result in different types of radiation exposure for which the diagnostic and therapeutic measures, as well as the outcomes, differ. The clinical course of acute radiation syndrome depends on the ab...

  9. Congenital pseudarthrosis of the clavicle causing thoracic outlet syndrome.

    Science.gov (United States)

    Watson, Hannah Isabella; Hopper, Graeme Philip; Kovacs, Peter

    2013-01-01

    A 7-year-old girl presented with an asymptomatic right supraclavicular swelling. Radiographs were interpreted as showing a non-union of her clavicle. No treatment was given at this time. However, she represented 12 years later with right upper limb pain and altered sensation. Examination revealed a positive Allen's test on the right. Repeat radiographs demonstrated a pseudarthrosis of the clavicle, associated with a secondary complication of thoracic outlet syndrome with vascular and neurological complications present. Non-operative management failed to relieve her symptoms. Operative intervention successfully treated her symptoms. PMID:23975919

  10. A RARE CAUSE OF RESISTANT SEIZURES: DYKE DAVIDOFF MASSON SYNDROME

    Directory of Open Access Journals (Sweden)

    Biswadev Basu

    2013-11-01

    Full Text Available ABSTRACT : Dyke – Davidoff – Masson Syndrome (DDMS, is a rare clinical condition characterized by clinical triad of seizures, contralateral spastic hemiplegia or hemiparesis, with or without mental retardation. Diagnosis requires presence of cerebral hemiatrophy with homolateral hypertrophy of the skull and sinuses on brain imaging. Here we report a case of DDMS in a 16 year old girl who presented with seizures and hemiparesis.MRI of her brain showed hemiatrophy involving the left cerebral hemisphere with enlargement of ipsilateral sinuses and ventricles

  11. Rituximab as a possible cause of posterior reversible encephalopathy syndrome

    Directory of Open Access Journals (Sweden)

    Ahmed Imran Siddiqi

    2011-09-01

    Full Text Available A 66-year-old woman presented with new onset generalisedtonic-clonic seizures following her first dose ofchemotherapy comprising Rituximab, Cyclophosphamide,Hydroxydaunorubicin, Oncovin and Prednisolone (R-CHOP10 days earlier for non-Hodgkin’s lymphoma. On admission,computed tomography (CT scan of the cranium showed noabnormality. The CT was repeated within 48 hours as thepatient developed status epilepticus and papilledema; therepeat scan showed characteristics of posterior reversibleencephalopathy syndrome (PRES. Association of rituximabwith this condition was suspected as there was norecurrence of PRES after receiving two more cycles of CHOPwithout rituximab. Contrary to previously published casereports, this patient had a delayed clinical presentation.

  12. Gastric sarcoidosis mimicking irritable bowel syndrome-Cause not association?

    Institute of Scientific and Technical Information of China (English)

    John Samuel Leeds; Mark Edward McAlindon; Eleanor Lorenz; Asha Kumari Dube; David Surendran Sanders

    2006-01-01

    Sarcoidosis is a systemic disease of unknown aetiology that may affect any organ in the body. The gastrointestinal tract however is only rarely affected outside the liver. Symptoms may be non-specific.Irritable bowel syndrome (IBS) is a common diagnosis.The recognition of TBS is aided by the use of the Rome Ⅱ criteria - in the absence of organic disease. We describe the first case of a patient with gastric sarcoidosis who presented with IBS symptoms but subsequently responded to immunosuppressive therapy.

  13. Reactive airways dysfunction syndrome caused by bromochlorodifluoromethane from fire extinguishers.

    Science.gov (United States)

    Matrat, M; Laurence, M F; Iwatsubo, Y; Hubert, C; Joly, N; Legrand-Cattan, K; L'Huillier, J P; Villemain, C; Pairon, J C

    2004-08-01

    Although the neurological and cardiovascular effects of Freons have been extensively described, the respiratory effects have been less well documented. We report four cases of occupational asthma following accidental exposure to bromochlorodifluoromethane (Halon 1211) due to release of the contents of a fire extinguisher. All subjects developed an irritative reaction of the upper airways and lower respiratory symptoms immediately after exposure. Non-specific bronchial hyperreactivity was present for at least two months in all subjects and was still present more than two years after exposure in one case. The diagnosis of reactive airways dysfunction syndrome can be adopted in at least three of these four cases. PMID:15258280

  14. Iatrogenic Cushing syndrome caused by ocular glucocorticoids in a child.

    Science.gov (United States)

    Messina, Maria Francesca; Valenzise, Mariella; Aversa, Salvatore; Arrigo, Teresa; De Luca, Filippo

    2009-01-01

    A boy aged 7.6 years presented to our Unit of Paediatric Endocrinology for evaluation of obesity. Progressive weight gain (10 kg) started 6 months earlier after an accidental penetrating orbital injury on the right eye. During this period the child has been treated with oral betamethasone (0.5 mg/day) for 1 month and dexamethasone 2% ocular drops (2 hourly by day) for 6 months. Physical examination showed he was 113.5 cm in height (-1.5 SD), weight 36.0 kg, blood pressure 110/90 mmHg (90th centile), body mass index 28 (+5 SD), truncal obesity, buffalo hump, "moon-face", increased lanugo hair and supraclavicular fullness. Endocrinological work-up revealed undetectable levels of basal adrenocorticotropic hormone (ACTH), basal and ACTH-stimulated cortisol and 24 h urine excretion cortisol, confirming the diagnosis of iatrogenic Cushing syndrome. The abrupt withdrawal of ocular glucocorticoids by the parents evoked two adrenal crises; 4 months later the patient recovered. In conclusion, we would alert doctors that every formulation of glucocorticoids, no ocular drops excluded, can determine severe systemic side effects and iatrogenic Cushing syndrome. PMID:21686405

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

    International Nuclear Information System (INIS)

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

  16. A defect in dystrophin causes a novel porcine stress syndrome

    Directory of Open Access Journals (Sweden)

    Nonneman Dan J

    2012-06-01

    Full Text Available Abstract Background Losses of slaughter-weight pigs due to transport stress are both welfare and economic concerns to pork producers. Historically, the HAL-1843 mutation in ryanodine receptor 1 was considered responsible for most of the losses; however, DNA testing has effectively eliminated this mutation from commercial herds. We identified two sibling barrows in the USMARC swine herd that died from apparent symptoms of a stress syndrome after transport at 12 weeks of age. The symptoms included open-mouth breathing, skin discoloration, vocalization and loss of mobility. Results We repeated the original mating along with sire-daughter matings to produce additional offspring. At 8 weeks of age, heart rate and electrocardiographs (ECG were monitored during isoflurane anesthesia challenge (3% for 3 min. Four males from the original sire-dam mating and two males from a sire-daughter mating died after one minute of anesthesia. Animals from additional litters were identified as having a stress response, sometimes resulting in death, during regular processing and weighing. Affected animals had elevated plasma creatine phosphokinase (CPK levels before and immediately after isoflurane challenge and cardiac arrhythmias. A pedigree containing 250 pigs, including 49 affected animals, was genotyped with the Illumina PorcineSNP60 Beadchip and only one chromosomal region, SSCX at 25.1-27.7 Mb over the dystrophin gene (DMD, was significantly associated with the syndrome. An arginine to tryptophan (R1958W polymorphism in exon 41 of DMD was the most significant marker associated with stress susceptibility. Immunoblots of affected heart and skeletal muscle showed a dramatic reduction of dystrophin protein and histopathology of affected hearts indicated muscle fiber degeneration. Conclusions A novel stress syndrome was characterized in pigs and the causative genetic factor most likely resides within DMD that results in less dystrophin protein and cardiac

  17. HOXA1 mutations are not a common cause of Möbius syndrome.

    Science.gov (United States)

    Rankin, Jessica K; Andrews, Caroline; Chan, Wai-Man; Engle, Elizabeth C

    2010-02-01

    The HOXA1-related syndromes result from autosomal-recessive truncating mutations in the homeobox transcription factor, HOXA1. Limited horizontal gaze and sensorineural deafness are the most common features; affected individuals can also have facial weakness, mental retardation, autism, motor disabilities, central hypoventilation, carotid artery, and/or conotruncal heart defects. Möbius syndrome is also phenotypically heterogeneous, with minimal diagnostic criteria of nonprogressive facial weakness and impaired ocular abduction; mental retardation, autism, motor disabilities, additional eye movements restrictions, hearing loss, hypoventilation, and craniofacial, lingual, and limb abnormalities also occur. We asked, given the phenotypic overlap between these syndromes and the variable expressivity of both disorders, whether individuals with Möbius syndrome might harbor mutations in HOXA1. Our results suggest that HOXA1 mutations are not a common cause of sporadic Möbius syndrome in the general population. PMID:20227628

  18. Fetal alcohol syndromecauses, diagnostic criteria and prevalence

    Directory of Open Access Journals (Sweden)

    Agata Horecka-Lewitowicz

    2014-04-01

    Full Text Available Fetal alcohol syndrome (FAS is the outcome of alcohol exposition in the prenatal period. It is irreversible. In Poland, FAS is becoming more and more common, the diagnostic tools are limited though. It is recommended to use the 4-Digit Diagnostic Code, which evaluates the 4 basic FAS symptoms: growth retardation, dysmorphic appearance, damage to the central nervous system and prenatal alcohol exposure. It has been confirmed that there is no safe amount of alcohol for a mother to drink while carrying a baby. To put it another way, only a complete lack of alcohol consumption is a guarantee that the baby will not suffer from FAS. It is necessary for society to know that even the smallest amount of alcohol is bad for the foetus. A number of people still believe that, for example, red wine is good and healthy for both the mother and child.

  19. Caffeine causes pulmonary hypertension syndrome (ascites) in broilers.

    Science.gov (United States)

    Kamely, M; Torshizi, M A Karimi; Rahimi, S; Wideman, R F

    2016-04-01

    Pulmonary hypertension syndrome (PHS), or ascites, is characterized by elevated pulmonary arterial pressure and pulmonary vascular resistance accompanied by right ventricular hypertrophy (RVH) and fluid accumulation in the abdominal cavity. Experimental models are required for triggering PHS to study the pathogenesis of this syndrome and to select resistant genetic lines. Caffeine increases vascular resistance and promotes systemic hypertension in mammals, but a similar effect of caffeine on the pulmonary circulation had not previously been demonstrated. Two experiments were conducted to evaluate the impact of caffeine alone (Exp. 1) or in combination with cold temperature (Exp. 2) on parameters associated with PHS in young broiler chicks. In Exp. 1, 288 chicks were distributed among 24 pens and brooded at standard environmental temperatures, and on d 3 through 42 caffeine was added to the water at doses of 0 (control), 6.25, 12.5, 25, 50, and 100 mg/(kg BW·d). In Exp. 2, 192 chicks were distributed among 16 pens and brooded at cool environmental temperatures, and on d 3 through 42 caffeine was added to the water at doses of 0 (control), 15, 30, and 45 mg/(kg BW·d). In Exp. 1 caffeine administered at or above 12.5 mg/(kg BW·d) induced severe PHS and resulted in acute mortality and RVH ( broilers exposed to cold temperatures remarkably exhibited PHS incidences and developed RVH with right ventricular to total ventricular weight ratios of 30% or greater. Moreover, hematocrit significantly increased because of caffeine supplementation in cool ambient temperature ( = 0.002). Our data demonstrate that caffeine induces high incidences of PHS in broilers, which is exacerbated by exposure to low temperatures. PMID:27136008

  20. Intermittent hypoglossal nerve palsy caused by a calcified persistent hypoglossal artery: an uncommon neurovascular compression syndrome.

    Science.gov (United States)

    Meila, Dan; Wetter, Axel; Brassel, Friedhelm; Nacimiento, Wilhelm

    2012-12-15

    Neurovascular compression is assumed to cause symptoms like trigeminal neuralgia, hemifacial spasm and vestibular paroxysmia. We present a patient with recurrent episodes of transient dysarthria due to isolated right hypoglossal nerve (HN) palsy. We describe the first case of a calcified persistent hypoglossal artery (PHA) as the putative cause of a hypoglossal neurovascular compression syndrome. Our patient received a daily low-dose medication of carbamazepine resulting in complete relief of symptoms. In conclusion, PHA is not only an anatomic variation but also a possible cause of a neurovascular compression syndrome leading to intermittent HN palsy. PMID:23020989

  1. Microtia Reconstruction and Postsurgical Grisel’s Syndrome: A Rare Cause of Torticollis in a Child

    Directory of Open Access Journals (Sweden)

    Jay Ching Chieh Wang, MD

    2014-06-01

    Full Text Available Summary: Grisel’s syndrome is an unusual but important cause of torticollis which may be encountered in a pediatric plastic surgery practice, where craniofacial and oropharyngeal surgeries are commonly performed. Grisel’s syndrome is characterized by painful torticollis and limited cervical rotation, and the diagnosis is confirmed via radiologic imaging. Initial management of Grisel’s syndrome is with anti-inflammatories and in some cases antibiotics. In unresolving or recurrent cases, more invasive treatments, such as cervical collar, halo, or surgical arthrodesis, may be considered.

  2. FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

    OpenAIRE

    Simonis, Nicolas; Migeotte, Isabelle; Lambert, Nelle; Perazzolo, Camille; de Silva, Deepthi C.; Dimitrov, Boyan; Heinrichs, Claudine; Janssens, Sandra; Kerr, Bronwyn; Mortier, Geert; Van Vliet, Guy; Lepage, Philippe; Casimir, Georges; Abramowicz, Marc; Smits, Guillaume

    2013-01-01

    Background Harstfield syndrome is the rare and unique association of holoprosencephaly (HPE) and ectrodactyly, with or without cleft lip and palate, and variable additional features. All the reported cases occurred sporadically. Although several causal genes of HPE and ectrodactyly have been identified, the genetic cause of Hartsfield syndrome remains unknown. We hypothesised that a single key developmental gene may underlie the co-occurrence of HPE and ectrodactyly. Methods We used whole exo...

  3. Staphylococcal Toxic Shock Syndrome Caused By An Intravaginal Product. A Case Report

    OpenAIRE

    Marton Monica

    2016-01-01

    Staphylococcal toxic shock syndrome (STSS) represents a potentially lethal disease, and survival depends primarily on the early initiation of appropriate treatment. As the clinical picture at presentation is usually common, frequently this could lead to misdiagnosis and delays in the initiation of the proper therapy. The case of a 43-years old female who developed a staphylococcal septic shock syndrome caused by a forgotten intravaginal tampon is reported.

  4. Staphylococcal Toxic Shock Syndrome Caused By An Intravaginal Product. A Case Report

    Directory of Open Access Journals (Sweden)

    Marton Monica

    2016-01-01

    Full Text Available Staphylococcal toxic shock syndrome (STSS represents a potentially lethal disease, and survival depends primarily on the early initiation of appropriate treatment. As the clinical picture at presentation is usually common, frequently this could lead to misdiagnosis and delays in the initiation of the proper therapy. The case of a 43-years old female who developed a staphylococcal septic shock syndrome caused by a forgotten intravaginal tampon is reported.

  5. A Novel Recurrent Mutation in ATP1A3 Causes CAPOS Syndrome

    OpenAIRE

    Demos, Michelle; Van Karnebeek, Clara; Ross, Colin; Adam, Shelin; Shen, Yaoqing; Zhan, Shing Hei; Shyr, Casper; Horvath, Gabriella; Suri, Mohnish; Fryer, Alan; Jones, Steven; Friedman,Jan; The FORGE; Canada Consortium

    2014-01-01

    Background We undertook genetic analysis of three affected families to identify the cause of dominantly-inherited CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss) syndrome. Methods We used whole-exome sequencing to analyze two families affected with CAPOS syndrome, including the original family reported in 1996, and Sanger sequencing to assess familial segregation of rare variants identified in the probands and in a third, apparently unrel...

  6. A recurrent TP63 mutation causing EEC3 and Rapp-Hodgkin syndromes.

    Science.gov (United States)

    Brueggemann, Felix B; Bartsch, Oliver

    2016-04-01

    The ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3; OMIM #604292), the Rapp-Hodgkin syndrome (RHS), and various other syndromes are caused by mutations in the TP63 gene, which encodes a p53-like transcription factor. Here, we report on a woman aged 37 years and her daughter aged 3 years with the previously reported c.1028G>A (p.Arg343Gln) mutation in exon 8 of TP63. The mother lacked ectrodactyly, indicating a diagnosis of RHS, whereas the girl presented with all three major features (ectrodactyly, ectodermal dysplasia, clefting) and different minor features (including small and brittle nails, and recurrent conjunctivitis believed to be because of stenotic and blocked nasolacrimal ducts) of the EEC3 syndrome. The EEC and EEC-like syndromes are usually distinguished on the basis of the clinical findings; however, these syndromes show a huge variability in features because of variable expressivity and incomplete penetrance, making the correct clinical assignment difficult. In EEC3 syndrome and RHS, a clustering of mutations in the different domains of TP63 can be observed. Our findings indicate the clinical variability with TP63 mutations and underline that in the case of two syndromes being clinically possible in a patient, the final diagnosis should be assigned only after molecular diagnostics. PMID:26882220

  7. peutz-jeghers syndrome as a cause of intussusception

    Directory of Open Access Journals (Sweden)

    Durango- Guevara Kary

    2012-06-01

    Full Text Available Introduction: Peutz-Jeghers syndrome, also known as periorificial lentigines is adisease of autosomal dominant transmission. It is characterized by the associationof gastrointestinal polyposis and mucocutaneous pigmentation, which is evidentfrom the first years of life and may remain until adulthood. The polyps arehamartomatous and occur most frequently in the small intestine, although therearereported cases in the stomach and intestine.Case report: A 14 year old boy who is diagnosed with Peutz Jeghers consulted theemergency room at Napoleon Franco Pareja Children’s Hospital, Cartagena, Colombia.He was admitted with acute abdominal pain secondary to intussusception thatrequired surgical repair and bowel resection. Delayed diagnosis, despite having lesionsin the oral mucosa and palmar and plantar skin since early childhood.We report this case to expand the general knowledge about this disease, seekingto increase the sensitivity of the medical staff for early diagnosis, thus avoidingthe morbidity and mortality.Conclusions: The Peutz-Jeghers syndrome has been associated with an increasedrisk of intussusception as in the case presented. It is also associated with anemia andcancer. Early diagnosis of the syndrome is important in order to search for polyps, identifyand resect them helps reduce the risk of intussusception.RESUMEN:Introducción: el síndrome de Peutz-Jeghers, también conocido como lentiginosisperiorificial es una enfermedad de transmisión autosómica dominante. Se caracterizapor la asociación de poliposis gastrointestinal y pigmentación mucocutánea, la cual seevidencia desde los primeros años de vida y puede permanecer hasta la edad adulta.Los pólipos son de tipo hamartomatoso y se presentan con mayor frecuencia a niveldel intestino delgado aunque existen casos reportados en estomago e intestino grueso.Caso clínico: joven de 14 años que se le diagnostica síndrome de Peutz Jeghersal consultar al servicio de urgencias del

  8. Empty Follicle Syndrome: The Possible Cause of Occurrence

    Science.gov (United States)

    Madani, Tahereh; Jahangiri, Nadia

    2015-01-01

    Objectives Empty follicle syndrome (EFS), although rare, is a disappointing condition in which no oocytes are retrieved from mature follicle after ovulation induction in in vitro fertilization (IVF) cycles. The aim of this study was to estimate the incidence and factors associated with EFS. Methods All cycles resulting in EFS from May 2012 to September 2013 were retrospectively identified at a tertiary referral infertility center. Among the 3,356 cycles performed, 58 (1.7%) women who underwent their first IVF cycle and had no oocyte retrieval were enrolled in the study. Three different stimulation protocols (long, antagonist, and miniflare) were mainly used for induction of follicular growth. Data relating to the age, follicle stimulating hormone (FSH) level, anti-Müllerain hormone (AMH) level, and the number of ampules and follicles for each patient was obtained. Results Out of 58 individuals, 10 (17.2%) showed false type and 48 (82.8%) showed genuine EFS. The most frequent findings in our study were diminished ovarian reserve, low anti-Müllerian hormone (AMH; ≤0.5 ng/mL), and less than four mature follicles, indicating EFS in 1.7% of the patients. Conclusion Low serum AMH levels and a small number of follicles after ovarian stimulation is the manifestation of diminished ovarian reserve. Thus, we suggest that EFS could be a manifestation of low ovarian reserve. PMID:26675755

  9. Renal amyloidosis in leprosy, an infrequent cause of nephrotic syndrome in Europe.

    Science.gov (United States)

    Sanz-Martín, Noelia; Samillán-Sosa, Kelly Del Rocío; De Miguel, Julio; Martínez-Miguel, Patricia

    2016-01-01

    Leprosy is a chronic infectious disease caused by Mycobacterium leprae The main clinical manifestations involve the skin and the peripheral nervous system. Several types of nephropathy have been described in leprosy. One frequent form of renal involvement is amyloidosis, especially in patients with lepromatous leprosy. In these patients, end-stage renal disease is an important contributor to morbidity and mortality. Here, we present the case of a patient with nephrotic syndrome caused by secondary amyloidosis, chronic peripheral neuropathy and a history of leprosy. The patient was correctly treated in her youth, which is the best way to avoid renal pathology, but she developed a nephrotic syndrome years later. PMID:27489069

  10. 阳虚生风论%Theory of Feng-Syndrome Caused by Yang Deficiency

    Institute of Scientific and Technical Information of China (English)

    潘远根

    2016-01-01

    The treatment of Feng-syndrome in TCM frequently focused on the wind syndromes caused by the strong hot, the hyperactivity of Yang, the Yin deficiency and the blood deficiency, but the Feng syndrome rarely deals with Yang deficiency. In this paper, we puts forward the Feng syndromes also caused by Yang deficiency and briefly discusses on it in the theory, the type of diseases and the syndrome differentiation, and then, to break down the syndrome differentiating keys with some clinical cases.%中医论风证的辨证治疗,向来仅注重火热、阳亢、阴虚、血虚等引起的风证,绝少论及阳虚动风。本文从阳虚生风的理论、病证类型、辨证要点等方面简要论述了阳虚阴盛同样引起动风证,并例举临床病例以详解辨证关键。

  11. Origins of the E. coli strain causing an outbreak of hemolytic-uremic syndrome in Germany

    DEFF Research Database (Denmark)

    Rasko, David A; Webster, Dale R; Sahl, Jason W;

    2011-01-01

    A large outbreak of diarrhea and the hemolytic-uremic syndrome caused by an unusual serotype of Shiga-toxin-producing Escherichia coli (O104:H4) began in Germany in May 2011. As of July 22, a large number of cases of diarrhea caused by Shiga-toxin-producing E. coli have been reported--3167 without...... the hemolytic-uremic syndrome (16 deaths) and 908 with the hemolytic-uremic syndrome (34 deaths)--indicating that this strain is notably more virulent than most of the Shiga-toxin-producing E. coli strains. Preliminary genetic characterization of the outbreak strain suggested that, unlike most of...... these strains, it should be classified within the enteroaggregative pathotype of E. coli....

  12. Iliac Vein Compression Syndrome due to Bladder Distention Caused by Urethral Calculi

    Directory of Open Access Journals (Sweden)

    Akiko Ikegami

    2015-01-01

    Full Text Available We report a rare case of iliac vein compression syndrome caused by urethral calculus. A 71-year-old man had a history of urethral stenosis. He complained of bilateral leg edema and dysuria for 1 week. Physical examination revealed bilateral distention of the superficial epigastric veins, so obstruction of both common iliac veins or the inferior vena cava was suspected. Plain abdominal computed tomography showed a calculus in the pendulous urethra, distention of the bladder (as well as the right renal pelvis and ureter, and compression of the bilateral common iliac veins by the distended bladder. Iliac vein compression syndrome was diagnosed. Bilateral iliac vein compression due to bladder distention (secondary to neurogenic bladder, benign prostatic hyperplasia, or urethral calculus as in this case is an infrequent cause of acute bilateral leg edema. Detecting distention of the superficial epigastric veins provides a clue for diagnosis of this syndrome.

  13. OTORHINOLARYNGOLOGIC CAUSES OF CLAUDE-BERNARD-HÖRNER SYNDROME: THREE CASES REPORT

    Directory of Open Access Journals (Sweden)

    R. de la Fuente Cañibano

    2010-01-01

    Full Text Available The syndrome of Claude-Bernard-Hörner is caused by the sinpatical injury of thebranches ascending innervation of the stellate ganglion and the iris smooth muscle eyelid. His triad is the presence of ptosis, myosis and enoftalmos. It may be accompanied by anhidrosis, pupillary dilation heterocromía delayed in the congenital case.

  14. High circulating ghrelin: a potential cause for hyperphagia and obesity in prader-willi syndrome

    DEFF Research Database (Denmark)

    DelParigi, Angelo; Tschöp, Matthias; Heiman, Mark L;

    2002-01-01

    Prader-Willi syndrome (PWS) is a genetic disorder occurring in 1 of 10,000-16,000 live births and is characterized by excessive appetite with progressive massive obesity as well as short stature and mental retardation. Most patients have GH deficiency and hypogonadotropic hypogonadism. The causes...

  15. Cervical Disc Herniation as a Cause of Brown-Séquard Syndrome

    OpenAIRE

    Choi, Kyeong Bo; Lee, Choon Dae; Chung, Dai-Jin; Lee, Sang-Ho

    2009-01-01

    The possible causes of Brown-Séquard Syndrome (BSS) have been frequently observed with spinal trauma and extramedullary spinal tumors, but the cervical disc herniation to cause BSS is rare. The authors present five cases of patients who were diagnosed with BSS resulting from cervical disc herniation, and the results of the literature in view of their distinctive symptoms and clinical outcomes. Postoperatively, the patients showed complete or almost complete recovery from their motor and senso...

  16. Thrombosed persistent median artery causing carpal tunnel syndrome associated with bifurcated median nerve: A case report

    International Nuclear Information System (INIS)

    Background: Carpal tunnel syndrome is a sporadically occurring abnormality due to compression of median nerve. It is exceedingly rare for it to be caused by thrombosis of persistent median artery. Case Report: A forty two year old female was referred for ultrasound examination due to ongoing wrist pain, not relived by pain killers and mild paraesthesia on the radial side of the hand. High resolution ultrasound and Doppler revealed a thrombosed persistent median artery and associated bifurcated median nerve. The thrombus resolved on treatment with anticoagulants. Conclusions: Ultrasound examination of the wrist when done for patients with carpal tunnel syndrome should preferably include looking for persistent median artery and its patency. (authors)

  17. Clinical and radiologic review of uncommon cause of profound iron deficiency anemia: Median arcuate ligament syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Gunduz, Yasemin; Asil, Kiyasrttin; Aksoy, Yakup Ersel; Ayhan, Lacin Tatli [Dept. of Radiology, Sakarya University Medical Faculty, Sakarya (Turkmenistan)

    2014-08-15

    Median arcuate ligament syndrome is an anatomic and clinical entity characterized by dynamic compression of the proximal celiac artery by the median arcuate ligament, which leads to postprandial epigastric pain, vomiting, and weight loss. These symptoms are usually nonspecific and are easily misdiagnosed as functional dyspepsia, peptic ulcer disease, or gastropathy. In this report, we presented a 72-year-old male patient with celiac artery compression syndrome causing recurrent abdominal pain associated with gastric ulcer and iron deficiency anemia. This association is relatively uncommon and therefore not well determined. In addition, we reported the CT angiography findings and three-dimensional reconstructions of this rare case.

  18. Neuroleptic Malignant Syndrome Caused by a Combination of Carbamazepine and Amitriptyline

    Directory of Open Access Journals (Sweden)

    A. Bruce Janati

    2012-01-01

    Full Text Available A 32-year-old female, with a history of secondarily-generalized convulsive epilepsy, mental retardation, and a psychiatric illness, developed neuroleptic malignant syndrome while receiving carbamazepine and amitriptyline concurrently. We hypothesize that the addition of amitriptyline to carbamazepine caused a decrease in the serum level of carbamazepine, resulting in NMS. We conclude that combination therapy with carbamazepine and amitriptyline should be avoided in patients who are predisposed to NMS. The purpose of this paper is to warn physicians against combination therapy with carbamazepine and tricyclic antidepressants which may be conducive to neuroleptic malignant syndrome in susceptible patients.

  19. Popliteal vascular entrapment syndrome caused by a rare anomalous slip of the lateral head of the gastrocnemius muscle

    Energy Technology Data Exchange (ETDEWEB)

    Liu, Patrick T.; Moyer, Adrian C.; Huettl, Eric A. [Mayo Clinic Scottsdale, Department of Radiology, Scottsdale (United States); Fowl, Richard J.; Stone, William M. [Mayo Clinic Scottsdale, Department of Vascular Surgery, Scottsdale (United States)

    2005-06-01

    Popliteal vascular entrapment syndrome can result in calf claudication, aneurysm formation, distal arterial emboli, or popliteal vessel thrombosis. The most commonly reported causes of this syndrome have been anomalies of the medial head of the gastrocnemius muscle as it relates to the course of the popliteal artery. We report two cases of rare anomalous slips of the lateral head of the gastrocnemius muscle causing popliteal vascular entrapment syndrome. (orig.)

  20. Popliteal vascular entrapment syndrome caused by a rare anomalous slip of the lateral head of the gastrocnemius muscle

    International Nuclear Information System (INIS)

    Popliteal vascular entrapment syndrome can result in calf claudication, aneurysm formation, distal arterial emboli, or popliteal vessel thrombosis. The most commonly reported causes of this syndrome have been anomalies of the medial head of the gastrocnemius muscle as it relates to the course of the popliteal artery. We report two cases of rare anomalous slips of the lateral head of the gastrocnemius muscle causing popliteal vascular entrapment syndrome. (orig.)

  1. Budd-chiari syndrome caused by diaphragmatic hernia of the liver: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Song, Jae Min; Yoon, Jung Won; Kim, Jae Wook; Chung, Woo Kyoung; Chung, Hee Sun; Kim, Joo Hyung; Choi, Jun Ho; Kim, Seung Ho [Armed Forces Capital Hospital, Seongnam (Korea, Republic of)

    2007-01-15

    Budd-Chiari syndrome is an uncommon disorder, and it is caused by obstruction of the hepatic venous out-flow or inferior vena cava above the hepatic vein. It may result from a large number of conditions, including primary congenital obstructions of the hepatic veins or inferior vena cava by webs or bands. Secondary causes include trauma, polycythemia vera, chronic leukemia, pregnancy, tumors and use of oral contraceptives. No definitive etiologic factors have been identified in two thirds of all cases. We recently experienced a case of Budd-Chiari syndrome caused by diaphragmatic hernia in 21-year-old man. Postoperative follow up CT showed normal venous flow after reintroduction of the liver into the abdominal cavity and closure of the diaphragm defect.

  2. Ventricular tachycardia in a Brugada syndrome patient caused by a novel deletion in SCN5A

    DEFF Research Database (Denmark)

    Tfelt-Hansen, J; Jespersen, T; Hofman-Bang, J;

    2009-01-01

    The aim of the present study was to identify the molecular mechanism behind ventricular tachycardia in a patient with Brugada syndrome. Arrhythmias in patients with Brugada syndrome often occur during sleep. However, a 28-year-old man with no previously documented arrhythmia or syncope who...... experienced shortness of breath and chest pain during agitation is described. An electrocardiogram revealed monomorphic ventricular tachycardia; after he was converted to nodal rhythm, he spontaneously went into sinus rhythm, and showed classic Brugada changes with coved ST elevation in leads V(1) to V(2......-cell patch clamp experiments using human embryonic kidney 293 cells transfected with the mutated SCN5A, no current could be recorded. Hence, the results suggest that the patient suffered from haploinsufficiency of Na(v)1.5, and that this mutation was the cause of his Brugada syndrome....

  3. Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.

    Science.gov (United States)

    Belaya, Katsiaryna; Rodríguez Cruz, Pedro M; Liu, Wei Wei; Maxwell, Susan; McGowan, Simon; Farrugia, Maria E; Petty, Richard; Walls, Timothy J; Sedghi, Maryam; Basiri, Keivan; Yue, Wyatt W; Sarkozy, Anna; Bertoli, Marta; Pitt, Matthew; Kennett, Robin; Schaefer, Andrew; Bushby, Kate; Parton, Matt; Lochmüller, Hanns; Palace, Jacqueline; Muntoni, Francesco; Beeson, David

    2015-09-01

    Congenital myasthenic syndromes are inherited disorders that arise from impaired signal transmission at the neuromuscular junction. Mutations in at least 20 genes are known to lead to the onset of these conditions. Four of these, ALG2, ALG14, DPAGT1 and GFPT1, are involved in glycosylation. Here we identify a fifth glycosylation gene, GMPPB, where mutations cause congenital myasthenic syndrome. First, we identified recessive mutations in seven cases from five kinships defined as congenital myasthenic syndrome using decrement of compound muscle action potentials on repetitive nerve stimulation on electromyography. The mutations were present through the length of the GMPPB, and segregation, in silico analysis, exon trapping, cell transfection followed by western blots and immunostaining were used to determine pathogenicity. GMPPB congenital myasthenic syndrome cases show clinical features characteristic of congenital myasthenic syndrome subtypes that are due to defective glycosylation, with variable weakness of proximal limb muscle groups while facial and eye muscles are largely spared. However, patients with GMPPB congenital myasthenic syndrome had more prominent myopathic features that were detectable on muscle biopsies, electromyography, muscle magnetic resonance imaging, and through elevated serum creatine kinase levels. Mutations in GMPPB have recently been reported to lead to the onset of muscular dystrophy dystroglycanopathy. Analysis of four additional GMPPB-associated muscular dystrophy dystroglycanopathy cases by electromyography found that a defective neuromuscular junction component is not always present. Thus, we find mutations in GMPPB can lead to a wide spectrum of clinical features where deficit in neuromuscular transmission is the major component in a subset of cases. Clinical recognition of GMPPB-associated congenital myasthenic syndrome may be complicated by the presence of myopathic features, but correct diagnosis is important because affected

  4. Acute respiratory distress syndrome caused by Mycoplasma pneumoniae without elevated pulmonary vascular permeability: a case report.

    Science.gov (United States)

    Takahashi, Naoki; Shinohara, Tsutomu; Oi, Rie; Ota, Muneyuki; Toriumi, Shinichi; Ogushi, Fumitaka

    2016-05-01

    Sporadic patients with acute respiratory distress syndrome (ARDS) caused by Mycoplasma pneumoniae have been reported. However, knowledge about the pathophysiology and pharmacological treatment of this condition is insufficient. Moreover, the pulmonary vascular permeability in ARDS related to M. pneumoniae infection has not been reported. We report a case of ARDS caused by Mycoplasma pneumoniae without elevated pulmonary vascular permeability, which was successfully treated using low-dose short-term hydrocortisone, suggesting that pulmonary infiltration in ARDS caused by Mycoplasma pneumoniae does not match the criteria of permeability edema observed in typical ARDS. PMID:27162691

  5. Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype

    OpenAIRE

    Korenberg, Julie R; Kawashima, Hiroko; Pulst, Stefan-M.; Ikeuchi, T; Ogasawara, N; Yamamoto, K.; Schonberg, Steven A.; West, Ruth; Allen, Leland; Magenis, Ellen; Ikawa, K; Taniguchi, N; Epstein, Charles J.

    1990-01-01

    Down syndrome (DS) is a major cause of mental retardation and heart disease. Although it is usually caused by the presence of an extra chromosome 21, a subset of the diagnostic features may be caused by the presence of only band 21q22. We now present evidence that significantly narrows the chromosomal region responsible for several of the phenotypic features of DS. We report a molecular and cytogenetic analysis of a three-generation family containing four individuals with clinical DS as manif...

  6. When the face says it all: dysmorphology in identifying syndromic causes of epilepsy.

    Science.gov (United States)

    Dixit, Abhijit; Suri, Mohnish

    2016-04-01

    Identifying the underlying cause of epilepsy often helps in choosing the appropriate management, suggests the long-term prognosis and clarifies the risk of the same condition in relatives. Epilepsy has many causes and a small but significant proportion of affected people have an identifiable genetic cause. Here, we discuss the role of genetic testing in adults with epilepsy, focusing on dysmorphic features noticeable on physical examination that might provide a strong clue to a specific genetic syndrome. We give illustrative examples of recognisable facial 'gestalt'. An astute clinician can recognise such clues and significantly shorten the process of making the underlying diagnosis in their patient. PMID:26864574

  7. Inflammatory cause of metabolic syndrome via brain stress and NF-κB.

    Science.gov (United States)

    Cai, Dongsheng; Liu, Tiewen

    2012-02-01

    Metabolic syndrome, a network of medical disorders that greatly increase the risk for developing metabolic and cardiovascular diseases, has reached epidemic levels in many areas of today's world. Despite this alarming medicare situation, scientific understandings on the root mechanisms of metabolic syndrome are still limited, and such insufficient knowledge contributes to the relative lack of effective treatments or preventions for related diseases. Recent interdisciplinary studies from neuroendocrinology and neuroimmunology fields have revealed that overnutrition can trigger intracellular stresses to cause inflammatory changes mediated by molecules that control innate immunity. This type of nutrition-related molecular inflammation in the central nervous system, particularly in the hypothalamus, can form a common pathogenic basis for the induction of various metabolic syndrome components such as obesity, insulin resistance, and hypertension. Proinflammatory NF-κB pathway has been revealed as a key molecular system for pathologic induction of brain inflammation, which translates overnutrition and resulting intracellular stresses into central neuroendocrine and neural dysregulations of energy, glucose, and cardiovascular homeostasis, collectively leading to metabolic syndrome. This article reviews recent research advances in the neural mechanisms of metabolic syndrome and related diseases from the perspective of pathogenic induction by intracellular stresses and NF-κB pathway of the brain. PMID:22328600

  8. Artery of Percheron Infarction as an Unusual Cause of Korsakoff's Syndrome.

    Science.gov (United States)

    Zhou, Yongxing; Fox, Derrick; Anand, Abhishek; Elhaj, Amal; Kapoor, Arushi; Najibi, Faranak; Kim, Han; Weir, Roger; Jayam-Trouth, Annapurni

    2015-01-01

    The Korsakoff syndrome is defined as "an abnormal mental state in which memory and learning are affected out of all proportion to other cognitive functions in an otherwise alert and responsive patient." Confabulation refers to false or erroneous memories arising, not deliberately, in the context of a neurological amnesia and is often thought of as pathognomonic of the Korsakoff syndrome. Although the exact pathophysiology is unknown, various studies have identified brain lesions in the thalami, mammillary bodies, and frontal cortex. We report a case of a 68-year-old male presenting with acute altered mental status on July 16, 2015. The neuropsychological dysfunctions included prominent Korsakoff's syndrome, which became apparent when the altered mental status resolved. Amnesia was accompanied by prominent confabulation, disorientation, and lack of insight into his own disability. Neuroradiological data indicated that the intralaminar and dorsomedial nuclei in bilateral thalami were infarcted by occlusion of the artery of Percheron. We believe that ours is one of few reported cases of Korsakoff syndrome in a patient with infarction involving the territory of the artery of Percheron. We conclude that bilateral thalamic lesions could cause Korsakoff's syndrome and the intralaminar and dorsomedial nuclei might be important structures in the pathogenesis of confabulation. PMID:26688763

  9. Artery of Percheron Infarction as an Unusual Cause of Korsakoff’s Syndrome

    Directory of Open Access Journals (Sweden)

    Yongxing Zhou

    2015-01-01

    Full Text Available The Korsakoff syndrome is defined as “an abnormal mental state in which memory and learning are affected out of all proportion to other cognitive functions in an otherwise alert and responsive patient.” Confabulation refers to false or erroneous memories arising, not deliberately, in the context of a neurological amnesia and is often thought of as pathognomonic of the Korsakoff syndrome. Although the exact pathophysiology is unknown, various studies have identified brain lesions in the thalami, mammillary bodies, and frontal cortex. We report a case of a 68-year-old male presenting with acute altered mental status on July 16, 2015. The neuropsychological dysfunctions included prominent Korsakoff’s syndrome, which became apparent when the altered mental status resolved. Amnesia was accompanied by prominent confabulation, disorientation, and lack of insight into his own disability. Neuroradiological data indicated that the intralaminar and dorsomedial nuclei in bilateral thalami were infarcted by occlusion of the artery of Percheron. We believe that ours is one of few reported cases of Korsakoff syndrome in a patient with infarction involving the territory of the artery of Percheron. We conclude that bilateral thalamic lesions could cause Korsakoff’s syndrome and the intralaminar and dorsomedial nuclei might be important structures in the pathogenesis of confabulation.

  10. c.376G>A mutation in WFS1 gene causes Wolfram syndrome without deafness.

    Science.gov (United States)

    Safarpour Lima, Behnam; Ghaedi, Hamid; Daftarian, Narsis; Ahmadieh, Hamid; Jamshidi, Javad; Khorrami, Mehdi; Noroozi, Rezvan; Sohrabifar, Nasim; Assarzadegan, Farhad; Hesami, Omid; Taghavi, Shaghayegh; Ahmadifard, Azadeh; Atakhorrami, Minoo; Rahimi-Aliabadi, Simin; Shahmohammadibeni, Neda; Alehabib, Elham; Andarva, Monavvar; Darvish, Hossein; Emamalizadeh, Babak

    2016-02-01

    Wolfram syndrome is one of the rare autosomal recessive, progressive, neurodegenerative disorders, characterized by diabetes mellitus and optic atrophy. Several other features are observed in patients including deafness, ataxia, and peripheral neuropathy. A gene called WFS1 is identified on chromosome 4p, responsible for Wolfram syndrome. We investigated a family consisted of parents and 8 children, which 5 of them have been diagnosed for Wolfram syndrome. WFS1 gene in all family members was sequenced for causative mutations. A mutation (c.376G>A, p.A126T) was found in all affected members in homozygous state and in both parents in heterozygous state. The bioinformatics analysis showed the deleterious effects of this nucleotide change on the structure and function of the protein product. As all of the patients in the family showed the homozygote mutation, and parents were both heterozygote, this mutation is probably the cause of the disease. We identified this mutation in homozygous state for the first time as Wolfram syndrome causation. We also showed that this mutation probably doesn't cause deafness in affected individuals. PMID:26773575

  11. MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.

    Science.gov (United States)

    Bader, Ingrid; Decker, E; Mayr, J A; Lunzer, V; Koch, J; Boltshauser, E; Sperl, W; Pietsch, P; Ertl-Wagner, B; Bolz, H; Bergmann, C; Rittinger, O

    2016-08-01

    Joubert syndrome (JS) is a clinically and genetically heterogeneous ciliopathy characterized by episodic hyperpnea and apnea, hypotonia, ataxia, cognitive impairment and ocular motor apraxia. The "molar tooth sign" is pathognomonic of this condition. Mutations in the MKS1 gene are a major cause of Meckel-Gruber syndrome (MKS), the most common form of syndromic neural tube defects, frequently resulting in perinatal lethality. We present the phenotype and genotype of a child with severe JS and agenesis of the corpus callosum (ACC). In our patient, a next generation sequencing (NGS) approach revealed the following two variants of the MKS1 gene: first, a novel missense variant [ c.240G > T (p.Trp80Cys)], which affects a residue that is evolutionarily highly conserved in mammals and ciliates; second, a 29 bp deletion in intron 15 [c.1408-35_1408-7del29], a founder mutation, which in a homozygous state constitutes the major cause of MKS in Finland. We review the MKS1-variants in all of the eleven JS patients reported to date and compare these patients to our case. To our knowledge, this is the first patient with Joubert syndrome and agenesis of the corpus callosum where a potentially causal genotype is provided. PMID:27377014

  12. Radial tunnel syndrome caused by ganglion cyst: treatment by arthroscopic cyst decompression.

    Science.gov (United States)

    Mileti, Joseph; Largacha, Mauricio; O'Driscoll, Shawn W

    2004-05-01

    Compressive neuropathies of the radial nerve at the elbow can lead to one of 2 clinical entities. Posterior interosseous syndrome is primarily a motor deficiency of the posterior interosseous nerve, and radial tunnel syndrome presents as pain along the radial tunnel and extensor muscle mass. The radial nerve can be compressed at a number of sites around the elbow. In addition, numerous mass lesions reported in the literature can cause compressive neuropathy of the radial nerve at the elbow. Standard surgical management for persistent radial tunnel syndrome that is refractory to nonsurgical treatment is open decompression of the radial nerve. Cysts occurring in other joints are commonly treated arthroscopically. Supraglenoid cysts of the shoulder, meniscal cysts in the knee, and dorsal wrist ganglia are routinely treated with arthroscopic decompression or excision with management of the underlying etiology of the cyst. We present a case of radial tunnel syndrome caused by a ganglion cyst of the proximal radioulnar joint that was treated using arthroscopic excision of the cyst and decompression of the radial nerve. PMID:15122155

  13. Spontaneous coronary artery dissection causing acute coronary syndrome in a young patient without risk factors

    OpenAIRE

    Chevli, Parag; Kelash, Fnu; Gadhvi, Pragnesh; Grandhi, Sreeram; Syed, Amer

    2014-01-01

    Spontaneous coronary artery dissection (SCAD) is a rare cause of acute myocardial infarction that is more common in younger patients (under age 50) and in women. Although the etiology is not known, some predisposing conditions to SCAD are well known and include Marfan syndrome, pregnancy and peripartum state, drug abuse, and some anatomical abnormalities of the coronary arteries such as aneurysms and severe kinking. We describe a case of SCAD in a young woman who presented with sudden onset o...

  14. Unilateral acquired Brown′s syndrome in systemic scleroderma: An unusual cause for diplopia

    Directory of Open Access Journals (Sweden)

    Neelam Pawar

    2015-01-01

    Full Text Available Brown′s syndrome can be congenital or acquired with multiple causes. It has been described as a ocular complication in various rheumatic and nonrheumatic diseases. We describe a case of 27-year-old female patient with 5 years old history of systemic scleroderma who developed vertical diplopia, a left head tilt, and restriction of left eye on elevation in adduction. The patient responded to systemic steroids with resolution of diplopia.

  15. A New Potential Cause in the Development of Toxic Anterior Segment Syndrome: Fibrin Glue

    OpenAIRE

    Selçuk Sızmaz; Cem Küçükerdönmez; Altuğ Çetinkaya; Yonca Aydın Akova

    2014-01-01

    Objectives: To present a potential cause for toxic anterior segment syndrome (TASS). Materials and Methods: We report 4 cases of TASS that occurred following uneventful phacoemulsification and intraocular lens implantation. Results: The 4 cases were the first consecutive 2 cases of 2 different surgery days, 5 months apart. The most prominent sign of TASS was limbus-to-limbus corneal edema. Pain and/or intraocular pressure rise were also common. All surgical and presurgical procedu...

  16. Mouse Models of Down Syndrome as a Tool to Unravel the Causes of Mental Disabilities

    OpenAIRE

    Carmen Martínez-Cué; Jesús Flórez; Noemí Rueda

    2012-01-01

    Down syndrome (DS) is the most common genetic cause of mental disability. Based on the homology of Hsa21 and the murine chromosomes Mmu16, Mmu17 and Mmu10, several mouse models of DS have been developed. The most commonly used model, the Ts65Dn mouse, has been widely used to investigate the neural mechanisms underlying the mental disabilities seen in DS individuals. A wide array of neuromorphological alterations appears to compromise cognitive performance in trisomic mice. Enhanced inhibition...

  17. Silent sinus syndrome as a recognised cause of unilateral painless enophthalmos

    Science.gov (United States)

    Gan, Weh Loong

    2014-01-01

    An uncommon case of unilateral painless enophthalmos in a 44-year-old woman is presented. Despite the noticeable orbital asymmetry caused by enophthalmos, the patient has normal visual acuities in both eyes with unremarkable ophthalmic examination. Diagnosis of silent sinus syndrome was confirmed on the CT orbits and paranasal sinuses, showing complete opacification and atelectasis of the maxillary sinus. The patient achieved satisfactory improvements in her nasal symptom and facial appearance following functional endoscopic sinus surgery. PMID:24859556

  18. Thrombosis of the persistent median artery as a cause of carpal tunnel syndrome – case study

    OpenAIRE

    Rzepecka-Wejs, Ludomira; Multan, Aleksandra; Konarzewska, Aleksandra

    2012-01-01

    Carpal tunnel syndrome is the most frequent neuropathy of the upper extremity, that mainly occurs in manual workers and individuals, whose wrist is overloaded by performing repetitive precise tasks. In the past it was common among of typists, seamstresses and mechanics, but nowadays it is often caused by long hours of computer keyboard use. The patient usually complains of pain, hypersensitivity and paresthesia of his hand and fingers in the median nerve distribution. The symptoms often incre...

  19. Thrombosis of the persistent median artery as a cause of carpal tunnel syndrome - case study.

    Science.gov (United States)

    Rzepecka-Wejs, Ludomira; Multan, Aleksandra; Konarzewska, Aleksandra

    2012-12-01

    Carpal tunnel syndrome is the most frequent neuropathy of the upper extremity, that mainly occurs in manual workers and individuals, whose wrist is overloaded by performing repetitive precise tasks. In the past it was common among of typists, seamstresses and mechanics, but nowadays it is often caused by long hours of computer keyboard use. The patient usually complains of pain, hypersensitivity and paresthesia of his hand and fingers in the median nerve distribution. The symptoms often increase at night. In further course of the disease atrophy of thenar muscles is observed. In the past the diagnosis was usually confirmed in nerve conduction studies. Nowadays a magnetic resonance scan or an ultrasound scan can be used to differentiate the cause of the symptoms. The carpal tunnel syndrome is usually caused by compression of the median nerve passing under the flexor retinaculum due to the presence of structures reducing carpal tunnel area, such as an effusion in the flexor tendons sheaths (due to overload or in the course of rheumatoid diseases), bony anomalies, muscle and tendon variants, ganglion cysts or tumors. In some cases diseases of upper extremity vessels including abnormalities of the persistent median artery may also result in carpal tunnel syndrome. We present a case of symptomatic carpal tunnel syndrome caused by thrombosis of the persistent median artery which was diagnosed in ultrasound examination. The ultrasound scan enabled for differential diagnosis and resulted in an immediate referral to clinician, who recommended instant commencement on anticoagulant treatment. The follow-up observation revealed nearly complete remission of clinical symptoms and partial recanalization of the persistent median artery. PMID:26676173

  20. Iliac Vein Compression Syndrome due to Bladder Distention Caused by Urethral Calculi

    OpenAIRE

    Akiko Ikegami; Takeshi Kondo; Tomoko Tsukamoto; Yoshiyuki Ohira; Masatomi Ikusaka

    2015-01-01

    We report a rare case of iliac vein compression syndrome caused by urethral calculus. A 71-year-old man had a history of urethral stenosis. He complained of bilateral leg edema and dysuria for 1 week. Physical examination revealed bilateral distention of the superficial epigastric veins, so obstruction of both common iliac veins or the inferior vena cava was suspected. Plain abdominal computed tomography showed a calculus in the pendulous urethra, distention of the bladder (as well as the rig...

  1. Reduced exercise capacity in persons with Down syndrome: cause, effect, and management

    OpenAIRE

    Mendonca, Goncalo

    2010-01-01

    Goncalo V Mendonca1, Fernando D Pereira1, Bo Fernhall21Center of Human Performance (CIPER), Faculty of Human Kinetics, Technical University of Lisbon, Lisbon, Portugal; 2Kinesiology and Community Health, University of Illinois at Urbana Champaign, Champaign, IL, USAAbstract: Persons with Down syndrome (DS) have reduced peak and submaximal exercise capacity. Because ambulation is one predictor of survival among adults with DS, a review of the current knowledge of the causes, effects, and manag...

  2. Exploration of biological causes of psychological problems in polycystic ovary syndrome (PCOS)

    OpenAIRE

    Barry, J. A.

    2011-01-01

    Background: Polycystic ovary syndrome (PCOS) affects up to 10% of women, and is characterised by elevated testosterone (T) levels. Women with PCOS have higher scores than healthy women on a range of measures of psychological problems. Objective: To test the hypotheses that: 1/ The female fetus in a PCOS pregnancy experiences elevated T levels; 2/ T causes mood disturbance in women with PCOS. 3/ women with PCOS show more signs of mood disturbance typical of symptoms of reactive hypoglycae...

  3. Bouveret's syndrome as an unusual cause of gastric outlet obstruction: a case report

    Directory of Open Access Journals (Sweden)

    Joshi Deepak

    2007-08-01

    Full Text Available Abstract An 83 year old caucasian gentleman presented with vomiting and left sided abdominal pain. A subsequent upper GI endoscopy demonstrated a large smooth mass impacted within the duodenum. A cholecysto-duodenal fistula was discovered at laparotomy, with a large gallstone impacted in the duodenum. A diagnosis of Bouveret's syndrome was made. The management of this rare cause of gastric outlet obstruction is discussed.

  4. Invasive Streptococcus pneumoniae infection causing hemolytic uremic syndrome in children: Two recent cases

    OpenAIRE

    Vanderkooi, Otto G; Kellner, James D; Wade, Andrew W.; Jadavji, Tajdin; Midgley, Julian P; Louie, Thomas; Tyrrell, Gregory J.

    2003-01-01

    INTRODUCTION: Streptococcus pneumoniae is an uncommon cause of hemolytic uremic syndrome (HUS) with a unique pathophysiology that differs from Shiga toxin-related HUS.METHODS: Case descriptions for each patient are provided. Each strain of S pneumoniae was subjected to a pulsed-field gel electrophoresis (PFGE) analysis, Shiga toxin assay and polymerase chain reaction to detect Shiga toxin genes. A review of the current literature was conducted.CASE PRESENTATIONS: Two patients with S pneumonia...

  5. Superior cerebellar aneurysm causing subarachnoid haemorrhage in a 17-year-old with alagille syndrome.

    LENUS (Irish Health Repository)

    O'Connell, David

    2012-04-01

    Alagille syndrome is a rare autosomal dominant condition characterised by mutation in Jagged1 gene. Intracranial aneurysms may be seen in this condition and may present as subarachnoid hemorrhage. We describe the first case of superior cerebellar aneurysm rupture causing WFNS grade 1 subarachnoid haemorrhage in a 17-year-old girl. The clinical condition and management of this rare occurrence is discussed with a review of literature.

  6. Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC syndrome) with a developmental delay caused by R304W mutation in the tp63 gene.

    Science.gov (United States)

    Gawrych, Elzbieta; Bińczak-Kuleta, Agnieszka; Janiszewska-Olszowska, Joanna; Ciechanowicz, Andrzej

    2013-01-01

    Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC) results from a simultaneous developmental abnor-caused by mutations of the tp63 gene. Five mutations: 204, 227, 279, 280, and 304 account for most cases of this syndrome. A case with R304W mutation, characterized by the presence of all major (ectrodactyly, ectodermal dysplasia, cleft lip and palate) and two minor (lacrimal duct obstruction, developmental delay) clinical symptoms of the syndrome is presented. This severe case improves the existing knowledge concerning the genotype-phenotype correlations in EEC syndrome. PMID:24734328

  7. Discovery of a Genetic Metabolic Cause for Mauriac Syndrome in Type 1 Diabetes.

    Science.gov (United States)

    MacDonald, Michael J; Hasan, Noaman M; Ansari, Israr-Ul H; Longacre, Melissa J; Kendrick, Mindy A; Stoker, Scott W

    2016-07-01

    A mechanistic cause for Mauriac syndrome, a syndrome of growth failure and delayed puberty associated with massive liver enlargement from glycogen deposition in children with poorly controlled type 1 diabetes, is unknown. We discovered a mutation in the catalytic subunit of liver glycogen phosphorylase kinase in a patient with Mauriac syndrome whose liver extended into his pelvis. Glycogen phosphorylase kinase activates glycogen phosphorylase, the enzyme that catalyzes the first step in glycogen breakdown. We show that the mutant subunit acts in a dominant manner to completely inhibit glycogen phosphorylase kinase enzyme activity and that this interferes with glycogenolysis causing increased levels of glycogen in human liver cells. It is known that even normal blood glucose levels physiologically inhibit glycogen phosphorylase to diminish glucose release from the liver when glycogenolysis is not needed. The patient's mother possessed the same mutant glycogen phosphorylase kinase subunit, but did not have diabetes or hepatomegaly. His father had childhood type 1 diabetes in poor glycemic control, but lacked the mutation and had neither hepatomegaly nor growth failure. This case proves that the effect of a mutant enzyme of glycogen metabolism can combine with hyperglycemia to directly hyperinhibit glycogen phosphorylase, in turn blocking glycogenolysis causing the massive liver in Mauriac disease. PMID:27207549

  8. SEVERE MALARIA CAUSED BY PLASMODIUM VIVAX IN PREGNANCY MASQUERADING AS HELLP SYNDROME

    Directory of Open Access Journals (Sweden)

    Monika

    2014-01-01

    Full Text Available The following is a case report of a woman who presented to the hospital with severe anemia with features of HELLP syndrome and initial slide for P .vivax negative but on constan t observation and monitoring turned out to be a case of severe malaria caused by vivax species of malaria. Primigravida with 35week5day pregnancy was admitted with complaints of severe anemia and history of fever 14 days back. Init i ally 3 pint blood was transfused i/v/o severe anemia . Investigations revealed Hb - 3gm% and platelet count 30 , 000 , LFT deranged , Hemolysis in peripheral smear , smear negative for malarial parasite. HELLP syndrome was in mind and this required termination but on repeat investigations and smear vivax was positive . Her platelet count kept deteriorating despite t ransfusions till antimalarial regimen was not started. Once smear positive the fastest antimalarial artesunate regimen with clindamycin was started and after 48 hrs. her counts improved. Overall 14 pints of platelets were transfused and patient delivered u neventfully with mild PPH at platelet count of 30 , 000. Severe malaria is usually caused by p falciparum but recently reports of severe malaria caused by vivax is increasing and HELLP syndrome is an important differential diagnosis which needs to be exclud ed as management is entirely different.

  9. An ignored cause of chronic kidney disease in children: type 2 cardiorenal syndrome

    OpenAIRE

    Engin Melek; Sercan Aynaci; Bahriye Atmis; Sevcan Erdem; Nazan Ozbarlas; Aysun Karabay Bayazit

    2016-01-01

    Cardiorenal syndrome is a disorder of the heart and kidneys in which acute or chronic dysfunction in one organ may induce acute or chronic dysfunction in the other organ. It is well known that the main cause of mortality among patients with end-stage renal disease is due to cardiovascular events and a common complication in patients in acute heart failure is a decrease in renal function. However, when there are no signs and/or symptoms of chronic cardiovascular disease, cardiovascular causes ...

  10. A RARE CAUSE OF SEIZURES WITH MENTAL RETARDATION AND HEMIPARESIS-DYKE-DAVIDOFF-MASSON SYNDROME

    Directory of Open Access Journals (Sweden)

    Vipin Kumar

    2014-09-01

    Full Text Available Cerebral hemi-atrophy with seizures, hemiplegia and mental retardation is uncommon clinical presentation in the early childhood and adolescence. The causes are various and usually grouped into congenital and acquired types. The Dyke-Davidoff-Masson Syndrome is one of the causes of these clinical manifestations, which is usually developed secondary to brain insult. Here we report two cases with similar symptoms- one case was an adult male of 35 years with long history of seizures and the second case was a young male of 22 years with cognitive impairment, difficulty in speech and walking

  11. A Rare Cause of Pulmonary Embolism and Seizure in a Young Man: Antiphospholipid Syndrome

    Science.gov (United States)

    Lu, Shu-Hsu; Wang, Yi-Chen; Wu, Yi-Shan; Huang, Shih-Chung; Lin, Chin-Sheng

    2016-01-01

    Pulmonary embolism (PE) is a complication of underlying vascular thrombosis. The causes of PE are multi-factorial, and patients with PE present with various symptoms. We herein have presented the case of a 21-year-old man who initially developed palpitation, dyspnea, and seizure. Computed tomography of the chest ultimately indicated PE, and antiphospholipid syndrome (APS) was diagnosed with clinical thrombosis events and series presence of antiphospholipid antibodies. APS commonly causes vascular thrombosis within the vascular tree; however, nonthrombotic manifestations, such as seizure, may also occur. Clinicians should be aware of such non-thrombotic manifestations of APS to avoid misdiagnosis and inappropriate management. PMID:27122957

  12. Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

    OpenAIRE

    Mortier, Geert; Hoornaert, Kristien P; Vereecke, Inge; Dewinter, Chantal; Rosenberg, Thomas; Beemer, Frits A; Leroy, Jules G; Bendix, Laila; Björck, Erik; Bonduelle, Dr.; Boute, Odile; Cormier-Daire, Valérie; De Die-Smulders, Christine E.M.; Dieux-Coeslier, Anne; Dollfus, Hélène

    2010-01-01

    Stickler syndrome is an autosomal dominant connective tissue disorder caused by mutations in different collagen genes. The aim of our study was to define more precisely the phenotype and genotype of Stickler syndrome type 1 by investigating a large series of patients with a heterozygous mutation in COL2A1. In 188 probands with the clinical diagnosis of Stickler syndrome, the COL2A1 gene was analyzed by either a mutation scanning technique or bidirectional fluorescent DNA sequencing. The effec...

  13. Two cases of uveitis masquerade syndrome caused by bilateral intraocular large B-cell lymphoma

    Directory of Open Access Journals (Sweden)

    Jovanović Svetlana

    2013-01-01

    Full Text Available Introduction. Sometimes it is not easy to clinically recognize subtle differences between intraocular lymphoma and noninfectious uveitis. The most common lymphoma subtype involving the eye is B-cell lymphoma. Case report. We presented two patients aged 59 and 58 years with infiltration of the subretinal space with a large B-cell non-Hodgkin intraocular lymphoma. The patients originally had clinically masked syndrome in the form of intermediate uveitis. As it was a corticosteroid-resistant uveitis, we focused on the possible diagnosis of neoplastic causes of this syndrome. During hospitalization, the neurological symptoms emerged and multiple subretinal changes accompanied by yellowish white patches of retinal pigment epithelium with signs of vitritis, which made us suspect the intraocular lymphoma. Endocranial magnetic resonance imaging established tumorous infiltration in the region of the left hemisphere of the cerebellum. The histopathological finding confirmed the diagnosis of large B-cell non-Hodgkin lymphoma of risk moderate degree, immunoblast - centroblast cytological type. The other patient had clinical chronic uveitis accompanied by yellowish shaped white echographic changes of the retina and localized changes in the level of the subretina. The diagnosis of lymphoma was made by brain biopsy. Conclusion. Uveitis masquerade syndrome should be considered in all patients over 40 years with idiopathic steroid-resistant uveitis. Treatment begun on time can affect the course and improve the prognosis of uveitis masquerade syndrome (UMS and systemic disease.

  14. A rare cause of Cauda equina syndrome: Epidural high grade primary non-Hodgkin lymphoma

    Directory of Open Access Journals (Sweden)

    Ambarish A Mathesul

    2013-01-01

    Full Text Available Cauda equina syndrome (CES may be caused by herniated disc, tumor, trauma, and spinal infections. However, CES due to epidural high-grade non-Hodgkin lymphoma (NHL is very rare. Up to our knowledge, few cases have been reported in the literature. We report a case of epidural high-grade NHL presenting as CES. A 55-year-old man presented with CES caused by extradural compression by primary NHL. The patient underwent an L4-L5 laminectomy. The operative findings were suggestive of well-demarcated epidural tumor. The final histopathological diagnosis revealed epidural high-grade NHL. NHL causing CES is rare. This report highlights the importance of keeping afresh the various causes of CES for prompt diagnosis and management.

  15. Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.

    Science.gov (United States)

    Campeau, Philippe M; Kim, Jaeseung C; Lu, James T; Schwartzentruber, Jeremy A; Abdul-Rahman, Omar A; Schlaubitz, Silke; Murdock, David M; Jiang, Ming-Ming; Lammer, Edward J; Enns, Gregory M; Rhead, William J; Rowland, Jon; Robertson, Stephen P; Cormier-Daire, Valérie; Bainbridge, Matthew N; Yang, Xiang-Jiao; Gingras, Marie-Claude; Gibbs, Richard A; Rosenblatt, David S; Majewski, Jacek; Lee, Brendan H

    2012-02-10

    Genitopatellar syndrome (GPS) is a skeletal dysplasia with cerebral and genital anomalies for which the molecular basis has not yet been determined. By exome sequencing, we found de novo heterozygous truncating mutations in KAT6B (lysine acetyltransferase 6B, formerly known as MYST4 and MORF) in three subjects; then by Sanger sequencing of KAT6B, we found similar mutations in three additional subjects. The mutant transcripts do not undergo nonsense-mediated decay in cells from subjects with GPS. In addition, human pathological analyses and mouse expression studies point to systemic roles of KAT6B in controlling organismal growth and development. Myst4 (the mouse orthologous gene) is expressed in mouse tissues corresponding to those affected by GPS. Phenotypic differences and similarities between GPS, the Say-Barber-Biesecker variant of Ohdo syndrome (caused by different mutations of KAT6B), and Rubinstein-Taybi syndrome (caused by mutations in other histone acetyltransferases) are discussed. Together, the data support an epigenetic dysregulation of the limb, brain, and genital developmental programs. PMID:22265014

  16. Trousseau's Syndrome Caused by Intrahepatic Cholangiocarcinoma: An Autopsy Case Report and Literature Review

    Science.gov (United States)

    Yuri, Takashi; Kato, Kouta; Hirohara, y; Kinoshita, Yuichi; Emoto, Yuko; Yuki, Michiko; Yoshizawa, Katsuhiko; Tsubura, Airo

    2014-01-01

    An autopsy case report of Trousseau's syndrome caused by intrahepatic cholangiocarcinoma is presented, and seven previously reported cases are reviewed. A 73-year-old woman experiencing light-headedness and dementia of unknown cause for 6 months developed severe hypotonia. A hypointense lesion compatible with acute cerebral infarction was detected by magnetic resonance imaging. Abdominal computed tomography revealed an ill-defined large liver mass in the right lobe. The mass was not further investigated because of the patient's poor condition. She died of multiple organ failure, and an autopsy was conducted. Postmortem examination revealed intrahepatic cholangiocarcinoma, fibrous vegetations on the mitral valves and multiple thromboemboli in the cerebrum, spleen and rectum. Trousseau's syndrome is defined as an idiopathic thromboembolism in patients with undiagnosed or concomitantly diagnosed malignancy. This syndrome is encountered frequently in patients with mucin-producing carcinomas, while the incidence in patients with intrahepatic cholangiocarcinoma is uncommon. We found that tissue factor and mucin tumor marker (CA19-9, CA15-3 and CA-125) expression in cancer cells may be involved in the pathogenesis of thromboembolism. A patient with unexplained thromboembolism may have occult visceral malignancy; thus, mucin tumor markers may indicate the origin of a mucin-producing carcinoma, and postmortem examination may play an important role in revealing the hidden malignancy. PMID:24987359

  17. Uncommon causes of anterior knee pain: a case report of infrapatellar contracture syndrome.

    Science.gov (United States)

    Ellen, M I; Jackson, H B; DiBiase, S J

    1999-01-01

    The uncommon causes of anterior knee pain should always be considered in the differential diagnosis of a painful knee when treatment of common origins become ineffective. A case is presented in which the revised diagnosis of infrapatellar contracture syndrome was made after noting delayed progress in the rehabilitation of an active female patient with a presumed anterior horn medial meniscus tear and a contracted patellar tendon. The patient improved after the treatment program was augmented with closed manipulation under arthroscopy and infrapatellar injection of both corticosteroids and a local anesthetic. Infrapatellar contraction syndrome and other uncommon sources of anterior knee pain, including arthrofibrosis, Hoffa's syndrome, tibial collateral ligament bursitis, saphenous nerve palsy, isolated ganglions of the anterior cruciate ligament, slipped capital femoral epiphysis, and knee tumors, are subsequently discussed. Delayed functional advancement in a rehabilitation program requires full reassessment of the patient's diagnosis and treatment plan. Alternative diagnoses of knee pain are not always of common origins. Ample knowledge of uncommon causes of anterior knee pain is necessary to form a full differential diagnosis in patients with challenging presentations. PMID:10418845

  18. Waardenburg syndrome type 4: report of two new cases caused by SOX10 mutations in Spain.

    Science.gov (United States)

    Fernández, Raquel M; Núñez-Ramos, Raquel; Enguix-Riego, M Valle; Román-Rodríguez, Francisco José; Galán-Gómez, Enrique; Blesa-Sánchez, Emilio; Antiñolo, Guillermo; Núñez-Núñez, Ramón; Borrego, Salud

    2014-02-01

    Shah-Waardenburg syndrome or Waardenburg syndrome type 4 (WS4) is a neurocristopathy characterized by the association of deafness, depigmentation and Hirschsprung disease. Three disease-causing genes have been identified so far for WS4: EDNRB, EDN3, and SOX10. SOX10 mutations, found in 45-55% of WS4 patients, are inherited in autosomal dominant way. In addition, mutations in SOX10 are also responsible for an extended syndrome involving peripheral and central neurological phenotypes, referred to as PCWH (peripheral demyelinating neuropathy, central dysmyelinating leucodystrophy, Waardenburg syndrome, Hirschsprung disease). Such mutations are mostly private, and a high intra- and inter-familial variability exists. In this report, we present a patient with WS4 and a second with PCWH due to SOX10 mutations supporting again the genetic and phenotypic heterogeneity of these syndromes. Interestingly, the WS4 family carries an insertion of 19 nucleotides in exon 5 of SOX10, which results in distinct phenotypes along three different generations: hypopigmentation in the maternal grandmother, hearing loss in the mother, and WS4 in the proband. Since mosaicism cannot explain the three different related-WS features observed in this family, we propose as the most plausible explanation the existence of additional molecular events, acting in an additive or multiplicative fashion, in genes or regulatory regions unidentified so far. On the other hand, the PCWH case was due to a de novo deletion in exon 5 of the gene. Efforts should be devoted to unravel the mechanisms underlying the intrafamilial phenotypic variability observed in the families affected, and to identify new genes responsible for the still unsolved WS4 cases. PMID:24311220

  19. Spontaneous coronary artery dissection causing acute coronary syndrome in a young patient without risk factors

    Directory of Open Access Journals (Sweden)

    Parag Chevli

    2014-09-01

    Full Text Available Spontaneous coronary artery dissection (SCAD is a rare cause of acute myocardial infarction that is more common in younger patients (under age 50 and in women. Although the etiology is not known, some predisposing conditions to SCAD are well known and include Marfan syndrome, pregnancy and peripartum state, drug abuse, and some anatomical abnormalities of the coronary arteries such as aneurysms and severe kinking. We describe a case of SCAD in a young woman who presented with sudden onset of chest pain and was admitted for the treatment of acute coronary syndrome. The coronary angiography showed dissection of the left anterior descending artery. The patient underwent successful percutaneous transluminal coronary angioplasty and stent placement.

  20. Causes, consequences, and therapy of the Radiophobia syndrome; Ursachen, Folgen und Therapie des Radiophobie-Syndroms

    Energy Technology Data Exchange (ETDEWEB)

    Becker, K.

    2004-03-01

    The final storage of high-level radioactive waste, which is said to be still open while, in fact, it was solved technically a long time ago and is only being blocked for political reasons, as well as alleged technical risks of German nuclear power plants which have never been demonstrated or proven, are listed again and again as grounds for opting out of the use of nuclear power. There is hardly any doubt that one of the main causes underlying also these arguments, and thus the main reason for the insufficient public acceptance of nuclear power in Germany at the present time as a safe, inexpensive, and non-polluting source of primary energy, is the widespread fear of radiation (radiophobia). Consequently, solutions proposed for successfully managing this radiophobia must be examined. Continued scientific studies of the subject do not seem to be promising, as funds are available at present only for continuing the search for negative biological effects. Important preconditions for a change in attitude are the appropriate initiatives to be taken by the relatively small number of sufficiently independent experts of proven scientific repute. Initiatives of this kind can now be observed in numerous countries and regions in the world. It must be pointed out in this connection, as is underlined again and again by experienced experts, that risk acceptance is not a matter of factual arguments, but of emotions. Psychological and pedagogic sensitivity certainly are important elements in changing public opinion in the interest of a more realistic assessment of the radiation risk and the acceptance of nuclear power. (orig.) [German] Die angeblich noch offene, tatsaechlich aber laengst technisch geloeste und nur politisch blockierte Frage der Endlagerung hochradioaktiver Abfaelle, ebenso wie vorgebliche, tatsaechlich aber nie nachgewiesene technische Risiken der deutschen Kernkraftwerke werden immer wieder als Ausstiegsgruende fuer die Kernenergie genannt. Es bestehen kaum

  1. [Simultaneous operation of WPW syndrome combined with mitral regurgitation caused by infective endocarditis].

    Science.gov (United States)

    Sueda, T; Nakashima, Y; Hamanaka, Y; Ishihara, H; Matsuura, Y; Isobe, F

    1990-03-01

    A case of WPW syndrome combined with mitral regurgitation caused by infective endocarditis underwent surgical division of accessory pathway and mitral valve replacement preserving posterior leaflet simultaneously. A 56-years old woman suffered atrial fibrillation with pseudo VT and cardiac failure caused by mitral regurgitation. Electro-physiological study (EPS) revealed accessory pathway in postero-lateral wall in left atrium and atrio-fascicular pathway like James bundle in AV node. ECHO cardiography showed mitral valve prolapse and severe regurgitation. Accessory pathway was divided surgically and deep freeze coagulation was followed. Perforation of anterior leaflet and chordal rupture of posterior leaflet caused by infective endocarditis were repaired by annuloplasty (Kay and McGoon method) at first, but regurgitation retained moderately. After re-clamping of aorta, mitral valve was replaced with prosthesis (SJM 29 mm) preserving posterior leaflet. Postoperative examination revealed division of accessory pathway and no regurgitation of mitral prosthesis. PMID:2348136

  2. SEVERE MALARIA CAUSED BY PLASMODIUM VIVAX IN PREGNANCY MASQUERADING AS HELLP SYNDROME

    OpenAIRE

    Monika; Premila; Geetika; Pranjal

    2014-01-01

    The following is a case report of a woman who presented to the hospital with severe anemia with features of HELLP syndrome and initial slide for P .vivax negative but on constan t observation and monitoring turned out to be a case of severe malaria caused by vivax species of malaria. Primigravida with 35week5day pregnancy was admitted with complaints of severe anemia and history of fever 14 days back. Init i ally 3 pint blood was transfused i/v/o s...

  3. De novo mutations in PLXND1 and REV3L cause Möbius syndrome

    OpenAIRE

    Kayserili Karabey, Hülya; Tomas-Roca, Laura; Tsaalbi-Shtylik, Anastasia; Jansen, Jacob G.; Singh, Manvendra K.; Epstein, Jonathan A.; Altunoglu, Umut; Verzijl, Harriette; Soria, Laura; van Beusekom, Ellen; Roscioli, Tony; Iqbal, Zafar; Gilissen, Christian; Hoischen, Alexander; de Brouwer,Arjan P. M.; Erasmus, Corrie; Schubert, Dirk; Brunner, Han; Aytes, Antonio Perez; Marin, Faustino; Aroca, Pilar; Carta, Arturo; de Wind, Niels; Padberg, George W.; van Bokhoven, Hans

    2015-01-01

    ARTICLE Received 15 Nov 2014 | Accepted 17 Apr 2015 | Published 12 Jun 2015 De novo mutations in PLXND1 and REV3L cause Mo¨bius syndrome Laura Tomas-Roca1,2, Anastasia Tsaalbi-Shtylik3, Jacob G. Jansen3, Manvendra K. Singh4,5, Jonathan A. Epstein4, Umut Altunoglu6, Harriette Verzijl7, Laura Soria1, Ellen van Beusekom1, Tony Roscioli1,8, Zafar Iqbal1, Christian Gilissen1, Alexander Hoischen9, Arjan P.M. de Brouwer1, Corrie Erasmus7, Dirk Schubert10, Han Brunner1,11, Antoni...

  4. Intrauterine device infection causing concomitant streptococcal toxic shock syndrome and pelvic abscess with Actinomyces odontolyticus bacteraemia.

    Science.gov (United States)

    Wu, Carolyn M Yu; Noska, Amanda

    2016-01-01

    Intrauterine devices (IUDs) are rarely associated with serious infections. We report an unusual concomitant infection of group A Streptococcus (GAS) causing toxic shock syndrome and pelvic abscess with Actinomyces odontolyticus associated with an IUD in a healthy 50-year-old patient. The IUD was subsequently removed and the patient recovered on the appropriate antibiotics. This case highlights the importance of clinicians' high index of suspicion of an IUD infection and prompt removal of the infected foreign body to obtain source control. PMID:26965406

  5. Molecular Diagnosis of Hemorrhagic Fever with Renal Syndrome Caused by Puumala Virus

    Science.gov (United States)

    Lagerqvist, Nina; Hagström, Åsa; Lundahl, Malin; Nilsson, Elin; Juremalm, Mikael; Larsson, Inger; Alm, Erik; Bucht, Göran; Ahlm, Clas

    2016-01-01

    Rodent-borne hantaviruses cause two severe acute diseases: hemorrhagic fever with renal syndrome (HFRS) in Eurasia, and hantavirus pulmonary syndrome (HPS; also called hantavirus cardiopulmonary syndrome [HCPS]) in the Americas. Puumala virus (PUUV) is the most common causative agent of HFRS in Europe. Current routine diagnostic methods are based on serological analyses and can yield inconclusive results. Hantavirus-infected patients are viremic during the early phase of disease; therefore, detection of viral RNA genomes can be a valuable complement to existing serological methods. However, the high genomic sequence diversity of PUUV has hampered the development of molecular diagnostics, and currently no real-time reverse transcription-quantitative (RT)-PCR assay is available for routine diagnosis of HFRS. Here, we present a novel PUUV RT-PCR assay. The assay was validated for routine diagnosis of HFRS on samples collected in Sweden during the winter season from 2013 to 2014. The assay allowed detection of PUUV RNA in 98.7% of confirmed clinical HFRS samples collected within 8 days after symptomatic onset. In summary, this study shows that real-time RT-PCR can be a reliable alternative to serological tests during the early phase of HFRS. PMID:26962084

  6. Rules for distinguishing toxicants that cause type I and type II narcosis syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Veith, G.D.; Broderius, S.J. (Environmental Protection Agency, Environmental Research Laboratory-Duluth, MN (USA))

    1990-07-01

    Narcosis is a nonspecific reversible state of arrested activity of protoplasmic structures caused by a wide variety of organic chemicals. The vast majority of industrial organic chemicals can be characterized by a baseline structure-toxicity relationship as developed for diverse aquatic organisms, using only the n-octanol/water partition coefficient as a descriptor. There are, however, many apparent narcotic chemicals that are more toxic than baseline narcosis predicts. Some of these chemicals have been distinguished as polar narcotics. Joint toxic theory and isobole diagrams were used to show that chemicals strictly additive with phenol were generally more toxic than predicted by narcosis I models and characterized by a different mode of action called narcosis II syndrome. This type of toxicity is exemplified by certain amides, amines, phenols, and nitrogen heterocycles. Evidence is provided that suggests that narcosis II syndrome may result from the presence of a strong hydrogen bonding group on the molecule, and narcosis I syndrome results from hydrophobic bonding of the chemical to enzymes and/or membranes. This shift in toxic action is apparently indistinguishable for narcotic chemicals with log P greater than about 2.7. General rules for selecting the appropriate models are proposed.

  7. Molecular Diagnosis of Hemorrhagic Fever with Renal Syndrome Caused by Puumala Virus.

    Science.gov (United States)

    Lagerqvist, Nina; Hagström, Åsa; Lundahl, Malin; Nilsson, Elin; Juremalm, Mikael; Larsson, Inger; Alm, Erik; Bucht, Göran; Ahlm, Clas; Klingström, Jonas

    2016-05-01

    Rodent-borne hantaviruses cause two severe acute diseases: hemorrhagic fever with renal syndrome (HFRS) in Eurasia, and hantavirus pulmonary syndrome (HPS; also called hantavirus cardiopulmonary syndrome [HCPS]) in the Americas. Puumala virus (PUUV) is the most common causative agent of HFRS in Europe. Current routine diagnostic methods are based on serological analyses and can yield inconclusive results. Hantavirus-infected patients are viremic during the early phase of disease; therefore, detection of viral RNA genomes can be a valuable complement to existing serological methods. However, the high genomic sequence diversity of PUUV has hampered the development of molecular diagnostics, and currently no real-time reverse transcription-quantitative (RT)-PCR assay is available for routine diagnosis of HFRS. Here, we present a novel PUUV RT-PCR assay. The assay was validated for routine diagnosis of HFRS on samples collected in Sweden during the winter season from 2013 to 2014. The assay allowed detection of PUUV RNA in 98.7% of confirmed clinical HFRS samples collected within 8 days after symptomatic onset. In summary, this study shows that real-time RT-PCR can be a reliable alternative to serological tests during the early phase of HFRS. PMID:26962084

  8. Selenium-75-cholesterol imaging and computed tomography of the adrenal glands in differentiating the cause of Cushing's syndrome

    International Nuclear Information System (INIS)

    Measurement of 75Se-cholesterol (Scintadren) uptake and computed tomography (CT) of the adrenal glands were compared as a means of differentiating the cause of Cushing's syndrome in 11 patients over a 2-year period. Quantitative Scintadren imaging differentiated adrenocorticotrophic hormone (ACTH)-dependent disease from local adrenocortical lesions as the cause of Cushing's syndrome in all the patients studied. CT of the adrenal glands rapidly and accurately detected the adrenal mass lesions in 2 cases and was effective in documenting bilateral hyperplasia due to ectopic ACTH-dependent disease. However, in entopic ACTH (pituitary)-dependent disease the adrenal glands were of normal thickness in all but 2 patients, who had bilateral hyperplasia. Scintadren imaging and CT are useful non-invasive procedures for differentiating local adrenal disease from ACTH-dependent disease as the cause of Cushing's syndrome and should be the initial investigations once a firm clinical and biochemical diagnosis of Cushing's syndrome has been made

  9. KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function

    Science.gov (United States)

    Reichold, Markus; Zdebik, Anselm A.; Lieberer, Evelyn; Rapedius, Markus; Schmidt, Katharina; Bandulik, Sascha; Sterner, Christina; Tegtmeier, Ines; Penton, David; Baukrowitz, Thomas; Hulton, Sally-Anne; Witzgall, Ralph; Ben-Zeev, Bruria; Howie, Alexander J.; Kleta, Robert; Bockenhauer, Detlef; Warth, Richard

    2010-01-01

    Mutations of the KCNJ10 (Kir4.1) K+ channel underlie autosomal recessive epilepsy, ataxia, sensorineural deafness, and (a salt-wasting) renal tubulopathy (EAST) syndrome. We investigated the localization of KCNJ10 and the homologous KCNJ16 in kidney and the functional consequences of KCNJ10 mutations found in our patients with EAST syndrome. Kcnj10 and Kcnj16 were found in the basolateral membrane of mouse distal convoluted tubules, connecting tubules, and cortical collecting ducts. In the human kidney, KCNJ10 staining was additionally observed in the basolateral membrane of the cortical thick ascending limb of Henle's loop. EM of distal tubular cells of a patient with EAST syndrome showed reduced basal infoldings in this nephron segment, which likely reflects the morphological consequences of the impaired salt reabsorption capacity. When expressed in CHO and HEK293 cells, the KCNJ10 mutations R65P, G77R, and R175Q caused a marked impairment of channel function. R199X showed complete loss of function. Single-channel analysis revealed a strongly reduced mean open time. Qualitatively similar results were obtained with coexpression of KCNJ10/KCNJ16, suggesting a dominance of KCNJ10 function in native renal KCNJ10/KCNJ16 heteromers. The decrease in the current of R65P and R175Q was mainly caused by a remarkable shift of pH sensitivity to the alkaline range. In summary, EAST mutations of KCNJ10 lead to impaired channel function and structural changes in distal convoluted tubules. Intriguingly, the metabolic alkalosis present in patients carrying the R65P mutation possibly improves residual function of KCNJ10, which shows higher activity at alkaline pH. PMID:20651251

  10. A New Potential Cause in the Development of Toxic Anterior Segment Syndrome: Fibrin Glue

    Directory of Open Access Journals (Sweden)

    Selçuk Sızmaz

    2014-08-01

    Full Text Available Objectives: To present a potential cause for toxic anterior segment syndrome (TASS. Materials and Methods: We report 4 cases of TASS that occurred following uneventful phacoemulsification and intraocular lens implantation. Results: The 4 cases were the first consecutive 2 cases of 2 different surgery days, 5 months apart. The most prominent sign of TASS was limbus-to-limbus corneal edema. Pain and/or intraocular pressure rise were also common. All surgical and presurgical procedures were checked after the first outbreak, whereas the second outbreak required further investigation. Fibrin glue remnants from preceding pterygium surgery with conjunctival autografting were found to be the potential cause. Despite intensive corticosteroid therapy, corneal edema did not resolve in 2 patients who underwent keratoplasty. Conclusion: TASS is a sight-threatening condition which requires thorough investigation for prevention of new cases. All steps must be carefully revised. (Turk J Ophthalmol 2014; 44: 280-3

  11. Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

    Science.gov (United States)

    Hood, Rebecca L; Lines, Matthew A; Nikkel, Sarah M; Schwartzentruber, Jeremy; Beaulieu, Chandree; Nowaczyk, Małgorzata J M; Allanson, Judith; Kim, Chong Ae; Wieczorek, Dagmar; Moilanen, Jukka S; Lacombe, Didier; Gillessen-Kaesbach, Gabriele; Whiteford, Margo L; Quaio, Caio Robledo D C; Gomy, Israel; Bertola, Debora R; Albrecht, Beate; Platzer, Konrad; McGillivray, George; Zou, Ruobing; McLeod, D Ross; Chudley, Albert E; Chodirker, Bernard N; Marcadier, Janet; Majewski, Jacek; Bulman, Dennis E; White, Susan M; Boycott, Kym M

    2012-02-10

    Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delayed osseous maturation, expressive-language deficits, and a distinctive facial appearance. Occurrence is generally sporadic, although parent-to-child transmission has been reported on occasion. Employing whole-exome sequencing, we identified heterozygous truncating mutations in SRCAP in five unrelated individuals with sporadic FHS. Sanger sequencing identified mutations in SRCAP in eight more affected persons. Mutations were de novo in all six instances in which parental DNA was available. SRCAP is an SNF2-related chromatin-remodeling factor that serves as a coactivator for CREB-binding protein (CREBBP, better known as CBP, the major cause of Rubinstein-Taybi syndrome [RTS]). Five SRCAP mutations, two of which are recurrent, were identified; all are tightly clustered within a small (111 codon) region of the final exon. These mutations are predicted to abolish three C-terminal AT-hook DNA-binding motifs while leaving the CBP-binding and ATPase domains intact. Our findings show that SRCAP mutations are the major cause of FHS and offer an explanation for the clinical overlap between FHS and RTS. PMID:22265015

  12. BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.

    Science.gov (United States)

    Dias, Cristina; Estruch, Sara B; Graham, Sarah A; McRae, Jeremy; Sawiak, Stephen J; Hurst, Jane A; Joss, Shelagh K; Holder, Susan E; Morton, Jenny E V; Turner, Claire; Thevenon, Julien; Mellul, Kelly; Sánchez-Andrade, Gabriela; Ibarra-Soria, Ximena; Deriziotis, Pelagia; Santos, Rui F; Lee, Song-Choon; Faivre, Laurence; Kleefstra, Tjitske; Liu, Pentao; Hurles, Mathew E; Fisher, Simon E; Logan, Darren W

    2016-08-01

    Intellectual disability (ID) is a common condition with considerable genetic heterogeneity. Next-generation sequencing of large cohorts has identified an increasing number of genes implicated in ID, but their roles in neurodevelopment remain largely unexplored. Here we report an ID syndrome caused by de novo heterozygous missense, nonsense, and frameshift mutations in BCL11A, encoding a transcription factor that is a putative member of the BAF swi/snf chromatin-remodeling complex. Using a comprehensive integrated approach to ID disease modeling, involving human cellular analyses coupled to mouse behavioral, neuroanatomical, and molecular phenotyping, we provide multiple lines of functional evidence for phenotypic effects. The etiological missense variants cluster in the amino-terminal region of human BCL11A, and we demonstrate that they all disrupt its localization, dimerization, and transcriptional regulatory activity, consistent with a loss of function. We show that Bcl11a haploinsufficiency in mice causes impaired cognition, abnormal social behavior, and microcephaly in accordance with the human phenotype. Furthermore, we identify shared aberrant transcriptional profiles in the cortex and hippocampus of these mouse models. Thus, our work implicates BCL11A haploinsufficiency in neurodevelopmental disorders and defines additional targets regulated by this gene, with broad relevance for our understanding of ID and related syndromes. PMID:27453576

  13. Systemic 5-fluorouracil treatment causes a syndrome of delayed myelin destruction in the central nervous system

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    Han Ruolan

    2008-04-01

    Full Text Available Abstract Background Cancer treatment with a variety of chemotherapeutic agents often is associated with delayed adverse neurological consequences. Despite their clinical importance, almost nothing is known about the basis for such effects. It is not even known whether the occurrence of delayed adverse effects requires exposure to multiple chemotherapeutic agents, the presence of both chemotherapeutic agents and the body's own response to cancer, prolonged damage to the blood-brain barrier, inflammation or other such changes. Nor are there any animal models that could enable the study of this important problem. Results We found that clinically relevant concentrations of 5-fluorouracil (5-FU; a widely used chemotherapeutic agent were toxic for both central nervous system (CNS progenitor cells and non-dividing oligodendrocytes in vitro and in vivo. Short-term systemic administration of 5-FU caused both acute CNS damage and a syndrome of progressively worsening delayed damage to myelinated tracts of the CNS associated with altered transcriptional regulation in oligodendrocytes and extensive myelin pathology. Functional analysis also provided the first demonstration of delayed effects of chemotherapy on the latency of impulse conduction in the auditory system, offering the possibility of non-invasive analysis of myelin damage associated with cancer treatment. Conclusions Our studies demonstrate that systemic treatment with a single chemotherapeutic agent, 5-FU, is sufficient to cause a syndrome of delayed CNS damage and provide the first animal model of delayed damage to white-matter tracts of individuals treated with systemic chemotherapy. Unlike that caused by local irradiation, the degeneration caused by 5-FU treatment did not correlate with either chronic inflammation or extensive vascular damage and appears to represent a new class of delayed degenerative damage in the CNS.

  14. Intracerebral hemorrhage associated with Sneddon's syndrome: is ischemia-related angiogenesis the cause? Case report and review of the literature

    International Nuclear Information System (INIS)

    Sneddon's syndrome is characterized by livedo reticularis and multiple ischemic infarcts often associated with antiphospholipid antibodies. Intracerebral hemorrhage (ICH) is unusual in Sneddon's syndrome and has not been reported as the presenting complaint. We report a 38-year-old woman with a history of two miscarriages, Raynaud's phenomenon and livedo reticularis who presented acutely with ICH. Angiography showed prominent leptomeningeal and transdural anastomoses (pseudoangiomatosis). Anticardiolipin antibodies were positive. A right frontal brain biopsy failed to reveal vasculitis and a skin biopsy was nonspecific. MRI showed residual intracerebral hemorrhage (ICH), diffuse atrophy, multiple small white matter infarcts and leptomeningeal enhancement. This is the first report of Sneddon's syndrome presenting with an ICH. It shares features with the Divry-van Bogaert syndrome. We discuss the cause of the pseudoangiomatosis pattern and its role in the genesis of the hemorrhage and suggest that cerebral angiography should be done in every patient with Sneddon's syndrome, as it could impact therapy. (orig.)

  15. TGFBR3 variation is not a common cause of Marfan-like syndrome and Loeys-Dietz-like syndrome

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    Singh Krishna K

    2012-02-01

    Full Text Available Abstract Marfan syndrome (MFS is caused by mutations in the fibrillin-1 (FBN1 gene, and mutations in FBN1 are known to be responsible for over 90% of all MFS cases. Locus heterogeneity has also been reported and confirmed, with mutations in the receptor genes TGFBR1 and TGFBR2 identified in association with MFS-related phenotypes. It is now known that dysregulation of TGF-ß signaling is involved in MFS pathogenesis. To test the hypothesis that dysregulation of TGFBR3-associated TGF-ß signaling is implicated in MFS or related phenotype pathogenesis, we selected a cohort of 49 patients, fulfilling or nearly fulfilling the diagnostic criteria for MFS. The patients were known not to carry a mutation in the FBN1 gene (including three 5' upstream alternatively spliced exons, the TGFBR1 and TGFBR2 genes. Mutation screening for the TGFBR3 gene in these patients and in controls led to the identification of a total of ten exonic (one novel, four intronic (one novel and one 3'UTR variant in the TGFBR3 gene. Our data suggest that variations in TGFBR3 gene appear not to be associated with MFS or related phenotype.

  16. Elizabeth Warrington Prize Lecture. Seeing why they cannot see: understanding the syndrome and causes of posterior cortical atrophy.

    Science.gov (United States)

    Crutch, Sebastian J

    2014-09-01

    Posterior cortical atrophy (PCA) is a syndrome defined by focal neurodegeneration of the parietal, occipital, and occipito-temporal cortices and associated with progressive dysfunction of visual processing, praxis, numeracy and reading. The condition is most commonly caused by (and viewed as an atypical presentation of) Alzheimer's disease, although can also be caused by other degenerative diseases. The current paper examines the relationship of PCA to other degenerative syndromes, and considers what comparisons of these syndromes and disease phenotypes can tell us about underlying disease mechanisms. The focus then turns to neuropsychological investigations of the cognitive basis of symptoms which, although unusual in the broader context of a dementia clinic, are particularly characteristic of the PCA syndrome, before exploring implications for clinical management and patient and carer support. PMID:23458247

  17. A rare cause of Ortner’s syndrome: giant pulmonary artery aneurysm secondary to Behçet’s disease

    Directory of Open Access Journals (Sweden)

    Abdullah Çelik

    2015-03-01

    Full Text Available Behçet’ s disease is a systemic autoimmune vasculitis of unknown etiology. It causes serious disability by affecting both arteries and veins. Hoarseness due to compression of the left recurrent laringeus nerve resulting from pathologies of the heart and intrathoracic great vessels is defined as Ortner’s syndrome. The most common cause of Ortner’s syndrome is left atrial enlargement due to mitral stenosis. Various intrathoracic pathologies may also be the reason. Beside, Ortner’s syndrome due to primary pulmonary artery aneurysm as a feature of Behçet’s disease is relatively rare. Herein, we report a case of a 78 year old female patient presenting with hoarseness and diagnosed as Ortner’s syndrome resulting from a giant pulmonary artery aneurysm secondary to Behçet’ s disease. J Clin Exp Invest 2015; 6 (1: 69-71

  18. Síndrome oculoglandular de Parinaud causada por esporotricose Parinaud's oculoglandular syndrome caused by Sporotrichosis

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    Alexandre Sampaio de Abreu Ribeiro

    2010-10-01

    Full Text Available A síndrome oculoglandular de Parinaud é uma doença ocular rara causada por diferentes agentes etiológicos, entre eles bactérias, vírus e fungos. É caracterizada por uma conjuntivite granulomatosa, acompanhada de linfadenopatia pré-auricular adjacente e pode trazer sequelas caso não seja prontamente tratada. Neste artigo é relatado o caso de uma jovem técnica de enfermagem e estudante de medicina veterinária apresentando a síndrome oculoglandular de Parinaud causada pelo fungo Sporothrix schenkii após contaminação com gatos infectados. Sua apresentação clínica e evolução desfavorável até o correto diagnóstico etiológico e instituição do tratamento específico, ressaltam a importância da investigação laboratorial em casos de evolução atípica da doença.Parinaud's oculoglandular syndrome is a rare eye disease caused by different pathogens, including bacteria, viruses and fungi. It is characterized by a granulomatous conjunctivitis with adjacent preauricular lympha-denopathy and can cause sequelae if not promptly treated. We report a case of a young nurse assistant and veterinary student showing Parinaud's oculoglandular syndrome caused by the fungus Sporothrix schenkii after contamination with infected cats. Its clinical presentation and negative outcome until the correct ethiological diagnosis, in addition to specific treatment, emphasize the importance of laboratory investigations in cases of atypical development of the disease.

  19. Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness.

    Science.gov (United States)

    Pingault, Veronique; Bodereau, Virginie; Baral, Viviane; Marcos, Severine; Watanabe, Yuli; Chaoui, Asma; Fouveaut, Corinne; Leroy, Chrystel; Vérier-Mine, Odile; Francannet, Christine; Dupin-Deguine, Delphine; Archambeaud, Françoise; Kurtz, François-Joseph; Young, Jacques; Bertherat, Jérôme; Marlin, Sandrine; Goossens, Michel; Hardelin, Jean-Pierre; Dodé, Catherine; Bondurand, Nadege

    2013-05-01

    Transcription factor SOX10 plays a role in the maintenance of progenitor cell multipotency, lineage specification, and cell differentiation and is a major actor in the development of the neural crest. It has been implicated in Waardenburg syndrome (WS), a rare disorder characterized by the association between pigmentation abnormalities and deafness, but SOX10 mutations cause a variable phenotype that spreads over the initial limits of the syndrome definition. On the basis of recent findings of olfactory-bulb agenesis in WS individuals, we suspected SOX10 was also involved in Kallmann syndrome (KS). KS is defined by the association between anosmia and hypogonadotropic hypogonadism due to incomplete migration of neuroendocrine gonadotropin-releasing hormone (GnRH) cells along the olfactory, vomeronasal, and terminal nerves. Mutations in any of the nine genes identified to date account for only 30% of the KS cases. KS can be either isolated or associated with a variety of other symptoms, including deafness. This study reports SOX10 loss-of-function mutations in approximately one-third of KS individuals with deafness, indicating a substantial involvement in this clinical condition. Study of SOX10-null mutant mice revealed a developmental role of SOX10 in a subpopulation of glial cells called olfactory ensheathing cells. These mice indeed showed an almost complete absence of these cells along the olfactory nerve pathway, as well as defasciculation and misrouting of the nerve fibers, impaired migration of GnRH cells, and disorganization of the olfactory nerve layer of the olfactory bulbs. PMID:23643381

  20. Observational cohort study of ventricular arrhythmia in adults with Marfan syndrome caused by FBN1 mutations.

    Directory of Open Access Journals (Sweden)

    Ali Aydin

    Full Text Available BACKGROUND: Marfan syndrome is associated with ventricular arrhythmia but risk factors including FBN1 mutation characteristics require elucidation. METHODS AND RESULTS: We performed an observational cohort study of 80 consecutive adults (30 men, 50 women aged 42±15 years with Marfan syndrome caused by FBN1 mutations. We assessed ventricular arrhythmia on baseline ambulatory electrocardiography as >10 premature ventricular complexes per hour (>10 PVC/h, as ventricular couplets (Couplet, or as non-sustained ventricular tachycardia (nsVT, and during 31±18 months of follow-up as ventricular tachycardia (VT events (VTE such as sudden cardiac death (SCD, and sustained ventricular tachycardia (sVT. We identified >10 PVC/h in 28 (35%, Couplet/nsVT in 32 (40%, and VTE in 6 patients (8%, including 3 with SCD (4%. PVC>10/h, Couplet/nsVT, and VTE exhibited increased N-terminal pro-brain natriuretic peptide serum levels(P10/h and Couplet/nsVT also related to increased indexed end-systolic LV diameters (P = .024 and P = .020, to moderate mitral valve regurgitation (P = .018 and P = .003, and to prolonged QTc intervals (P = .001 and P = .006, respectively. Moreover, VTE related to mutations in exons 24-32 (P = .021. Kaplan-Meier analysis corroborated an association of VTE with increased NT-proBNP (P<.001 and with mutations in exons 24-32 (P<.001. CONCLUSIONS: Marfan syndrome with causative FBN1 mutations is associated with an increased risk for arrhythmia, and affected persons may require life-long monitoring. Ventricular arrhythmia on electrocardiography, signs of myocardial dysfunction and mutations in exons 24-32 may be risk factors of VTE.

  1. A Rare Cause of Bacteremia in a Pediatric Patient with Down Syndrome: Sphingomonas Paucimobilis

    Directory of Open Access Journals (Sweden)

    Mehmet Özdemir, Sevgi Pekcan, Mehmet Emin Demircili, Fatma Esenkaya Taşbent, Bahadır Feyzioğlu, Şerife Pirinç, Mahmut Baykan

    2011-01-01

    Full Text Available Sphingomonas paucimobilis, is a yellow-pigmented, aerobic, non fermentative, gram negative motile bacillus. S. paucimobilis which is widely found in nature and hospital environments rarely cause serious or life threatening infections. In this report, a case of hospital acquired bloodstream infection due to S. paucimobilis in a patient with Down syndrome who was on treatment for presumed pneumonia is presented.A one year-old child patient who was a known case of Down syndrome and had previously experienced cardiac surgery was hospitalized and treated for pneumonia. On the 12th day of hospitalization, blood cultures were taken because of a high body temperature. One of the blood cultures was positive for gram-negative rods. After 48 hour of incubation, the sub-cultures on blood agar medium yielded pure growth of a yellow, non-fermentative, gram-negative, rod-shaped bacterium. The microorganism was positive for oxidase, and esculin hydrolysis, while negative for urea and nitrate reduction, citrate utilisation and motility. The isolate had been identified as S. paucimobilis by using Vitek 2 system. The antibiotic susceptibility test was also performed with the same system and the strain was found to be susceptible to piperacillin-tazobactam and other antibiotics. Treatment with intravenous piperacilin-tazobactam (150 mg/kg/day was initiated. He responded well to the treatment and was discharged after 10 days. This case is reported to emphasize that S. paucimobilis should be kept in mind as a nosocomial infectious agent in patients with Down syndrome and immunosuppressive patients and the infections should be treated according to the sensitivity test results.

  2. Ectopic Cushing' syndrome caused by a neuroendocrine carcinoma of the mesentery

    Directory of Open Access Journals (Sweden)

    Petersenn Stephan

    2006-04-01

    Full Text Available Abstract Background ACTH overproduction within the pituitary gland or ectopically leads to hypercortisolism. Here, we report the first case of Cushing' syndrome caused by an ectopic ACTH-secreting neuroendocrine carcinoma of the mesentery. Moreover, diagnostic procedures and pitfalls associated with ectopic ACTH-secreting tumors are demonstrated and discussed. Case presentation A 41 year-old man presented with clinical features and biochemical tests suggestive of ectopic Cushing's syndrome. First, subtotal thyroidectomy was performed without remission of hypercortisolism, because an octreotide scan showed increased activity in the left thyroid gland and an ultrasound revealed nodules in both thyroid lobes one of which was autonomous. In addition, the patient had a 3 mm hypoenhancing lesion of the neurohypophysis and a 1 cm large adrenal tumor. Surgical removal of the pituitary lesion within the posterior lobe did not improve hypercortisolism and we continued to treat the patient with metyrapone to block cortisol production. At 18-months follow-up from initial presentation, we detected an ACTH-producing neuroendocrine carcinoma of the mesentery by using a combination of octreotide scan, computed tomography scan, and positron emission tomography. Intraoperatively, use of a gamma probe after administration of radiolabeled 111In-pentetreotide helped identify the mesenteric neuroendocrine tumor. After removal of this carcinoma, the patient improved clinically. Laboratory testing confirmed remission of hypercortisolism. An octreotide scan 7 months after surgery showed normal results. Conclusion This case underscores the diagnostic challenge in identifying an ectopic ACTH-producing tumor and the pluripotency of cells, in this case of mesenteric cells that can start producing and secreting ACTH. It thereby helps elucidate the pathogenesis of neuroendocrine tumors. This case also suggests that patients with ectopic Cushing's syndrome and an octreotide

  3. Ectopic Cushing' syndrome caused by a neuroendocrine carcinoma of the mesentery

    International Nuclear Information System (INIS)

    ACTH overproduction within the pituitary gland or ectopically leads to hypercortisolism. Here, we report the first case of Cushing' syndrome caused by an ectopic ACTH-secreting neuroendocrine carcinoma of the mesentery. Moreover, diagnostic procedures and pitfalls associated with ectopic ACTH-secreting tumors are demonstrated and discussed. A 41 year-old man presented with clinical features and biochemical tests suggestive of ectopic Cushing's syndrome. First, subtotal thyroidectomy was performed without remission of hypercortisolism, because an octreotide scan showed increased activity in the left thyroid gland and an ultrasound revealed nodules in both thyroid lobes one of which was autonomous. In addition, the patient had a 3 mm hypoenhancing lesion of the neurohypophysis and a 1 cm large adrenal tumor. Surgical removal of the pituitary lesion within the posterior lobe did not improve hypercortisolism and we continued to treat the patient with metyrapone to block cortisol production. At 18-months follow-up from initial presentation, we detected an ACTH-producing neuroendocrine carcinoma of the mesentery by using a combination of octreotide scan, computed tomography scan, and positron emission tomography. Intraoperatively, use of a gamma probe after administration of radiolabeled 111In-pentetreotide helped identify the mesenteric neuroendocrine tumor. After removal of this carcinoma, the patient improved clinically. Laboratory testing confirmed remission of hypercortisolism. An octreotide scan 7 months after surgery showed normal results. This case underscores the diagnostic challenge in identifying an ectopic ACTH-producing tumor and the pluripotency of cells, in this case of mesenteric cells that can start producing and secreting ACTH. It thereby helps elucidate the pathogenesis of neuroendocrine tumors. This case also suggests that patients with ectopic Cushing's syndrome and an octreotide scan positive in atypical locations may benefit from

  4. Thyroid Hypoplasia as a Cause of Congenital Hypothyroidism in Monozygotic Twins Concordant for Rubinstein-Taybi Syndrome.

    OpenAIRE

    Akın, Mustafa Ali; Güneş, Tamer; Akın, Leyla; Çoban, Dilek; Kara Oncu, Sena; Kiraz, Aslıhan; Kurtoğlu, Selim

    2011-01-01

    Rubinstein-Taybi syndrome (RSTS), a genetic disorder characterized by growth retardation, mental deficiency, dysmorphic face, broad thumbs and large toes, generally affects monozygotic twins concordantly. Thyroid hypoplasia (TH) is a common cause of congenital hypothyroidism (CH) and often accompanies dysmorphic syndromes. A pair of female twins were admitted to our neonatology unit 16 hours after delivery. They were born at 35 weeks of gestation. Both twins had an unusual dysmorphic facial a...

  5. Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13. 3

    Energy Technology Data Exchange (ETDEWEB)

    Breuning, M.H.; Dauwerse, H.G.; Fugazza, G.; Saris, J.J.; Spruit, L.; Winjnen, H.; Beverstock, G.C.; Ommen, G.J.B. van (Leiden Univ. (Netherlands)); Tommerup, N. (John F. Kennedy Inst., Glostrup (Denmark) Avd. for Medisinsk Genetikk, Oslo (Norway)); Hagen, C.B. van der (John F. Kennedy Inst., Glostrup (Denmark)); Imaizumi, Kiyoshi; Kuroki, Yoshikazu (Kanagawa Children' s Medical Center, Yokohama (Japan)); Boogaard, M.J. van den; Pater, J.M. de; Hennekam, R.C.M. (Clinical Genetics Center, Utrecht (Netherlands)); Mariman, E.C.M.; Hamel, B.C.J. (University Hospital, Nijmegen (Netherlands)); Himmelbauer, H.; Frischauf, A.M. (Imperial Cancer Research Fund Laboratories, London (United Kingdom)); Stallings, R.L. (Los Alamos National Lab., NM (United States))

    1993-02-01

    The Rubinstein-Taybi syndrome (RTS) is a well-defined complex of congenital malformations characterized by facial abnormalities, broad thumbs and big toes, and mental retardation. The breakpoint of two distinct reciprocal translocations occurring in patients with a clinical diagnosis of RTS was located to the same interval on chromosome 16, between the cosmids N2 and RT1, in band 16p13.3. By using two-color fluorescence in situ hybridization, the signal from RT1 was found to be missing from one chromosome 16 in 6 of 24 patients with RTS. The parents of five of these patients did not show a deletion of RT1, indicating a de novo rearrangement. RTS is caused by submicroscopic interstitial deletions within 16p13.3 in approximately 25% of the patients. The detection of microdeletions will allow the objective confirmation of the clinical diagnosis in new patients and provides an excellent tool for the isolation of the gene causally related to the syndrome. 32 refs., 2 figs.

  6. A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.

    Science.gov (United States)

    Rutsch, Frank; MacDougall, Mary; Lu, Changming; Buers, Insa; Mamaeva, Olga; Nitschke, Yvonne; Rice, Gillian I; Erlandsen, Heidi; Kehl, Hans Gerd; Thiele, Holger; Nürnberg, Peter; Höhne, Wolfgang; Crow, Yanick J; Feigenbaum, Annette; Hennekam, Raoul C

    2015-02-01

    Singleton-Merten syndrome (SMS) is an infrequently described autosomal-dominant disorder characterized by early and extreme aortic and valvular calcification, dental anomalies (early-onset periodontitis and root resorption), osteopenia, and acro-osteolysis. To determine the molecular etiology of this disease, we performed whole-exome sequencing and targeted Sanger sequencing. We identified a common missense mutation, c.2465G>A (p.Arg822Gln), in interferon induced with helicase C domain 1 (IFIH1, encoding melanoma differentiation-associated protein 5 [MDA5]) in four SMS subjects from two families and a simplex case. IFIH1 has been linked to a number of autoimmune disorders, including Aicardi-Goutières syndrome. Immunohistochemistry demonstrated the localization of MDA5 in all affected target tissues. In vitro functional analysis revealed that the IFIH1 c.2465G>A mutation enhanced MDA5 function in interferon beta induction. Interferon signature genes were upregulated in SMS individuals' blood and dental cells. Our data identify a gain-of-function IFIH1 mutation as causing SMS and leading to early arterial calcification and dental inflammation and resorption. PMID:25620204

  7. PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females.

    Science.gov (United States)

    Berland, S; Alme, K; Brendehaug, A; Houge, G; Hovland, R

    2011-09-01

    In a 16-year-old girl with intellectual disability, irregular teeth, slight body asymmetry, and striated skin pigmentation, highly skewed X-inactivation increased the likelihood of an X-linked cause of her condition. Among these, prominent supraorbital ridges and hearing loss suggested a filaminopathy, but no filamin A mutation was found. The correct diagnosis, Borjeson-Forssman-Lehmann syndrome (BFLS, MIM#301900), was first made when a copy number array identified a de novo 15-kb deletion of the terminal 3 exons of the PHF6 gene. In retrospect, her phenotype resembled that of males with BFLS. Such deletions of PHF6 have not been reported previously. This might be because PHF6 mutations are rarely looked for in females since classical BFLS so far has been thought to be a male-specific syndrome, and large PHF6 deletions might be incompatible with male fetal survival. If this is the case, sporadic BFLS could be more frequent in females than in males. PMID:22190899

  8. Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features

    Directory of Open Access Journals (Sweden)

    Mariam Almuriekhi

    2015-03-01

    Full Text Available Sotos syndrome, characterized by intellectual disability and characteristic facial features, is caused by haploinsufficiency in the NSD1 gene. We conducted an etiological study on two siblings with Sotos features without mutations in NSD1 and detected a homozygous frameshift mutation in the APC2 gene by whole-exome sequencing, which resulted in the loss of function of cytoskeletal regulation in neurons. Apc2-deficient (Apc2−/− mice exhibited impaired learning and memory abilities along with an abnormal head shape. Endogenous Apc2 expression was downregulated by the knockdown of Nsd1, indicating that APC2 is a downstream effector of NSD1 in neurons. Nsd1 knockdown in embryonic mouse brains impaired the migration and laminar positioning of cortical neurons, as observed in Apc2−/− mice, and this defect was rescued by the forced expression of Apc2. Thus, APC2 is a crucial target of NSD1, which provides an explanation for the intellectual disability associated with Sotos syndrome.

  9. Surfactant therapy for maternal blood aspiration: an unusual cause of neonatal respiratory distress syndrome.

    Science.gov (United States)

    Celik, Istemi Han; Demirel, Gamze; Canpolat, Fuat Emre; Erdeve, Omer; Dilmen, Ugur

    2012-10-01

    Surfactant replacement therapy is the main treatment of neonatal respiratory distress syndrome. However, surfactant therapy has been shown to be effective in the treatment of other diseases causing neonatal respiratory diseases such as pulmonary hemorrhage, meconium aspiration syndrome, pneumonia/sepsis, pulmonary edema or acute lung injury resulting a secondary surfactant deficiency (SSD). Rarely, as like as in the present patient, exogenous blood aspiration such as breast milk or formula aspiration may lead to SSD. Blood in alveolus leads to a significant biochemical and functional disturbance of the surfactant system and inhibits surfactant production. Here, the authors report a preterm infant of 33 wk gestational age with secondary surfactant deficiency due to maternal blood aspiration because of abruptio placentae. She was received two courses of beractant, a natural bovine surfactant, therapy in 24 h. She was extubated on second day and did not require oxygen on 4(th) day. To the authors' knowledge, this is the first reported case of SSD due to maternal blood aspiration treated with surfactant. In conditions such as abruptio placentae, infant should be protected from blood aspiration and if respiratory distress occurs, surfactant inhibition and need for surfactant administration should be considered. PMID:22120615

  10. Anaphylactic shock: Kounis hypersensitivity-associated syndrome seems to be the primary cause

    Directory of Open Access Journals (Sweden)

    Nicholas G Kounis

    2013-01-01

    Full Text Available Experiments have shown that anaphylaxis decreases cardiac output; increases left ventricular end diastolic pressure; induces severe early acute increase in respiratory resistance with pulmonary interstitial edema; and decreases splanchnic, cerebral, and myocardial blood flow more than what would be expected from severe arterial dilation and hypotension. This is attributed to the constrictive action of inflammatory mediators released during anaphylactic shock. Inflammatory mediators such as histamine, neutral proteases, arachidonic acid products, platelet-activating factor (PAF, and a variety of cytokines and chemokines constitute the pathophysiologic basis of Kounis hypersensitivity-associated acute coronary syndrome. Although the mechanisms of anaphylactic shock still remain to be elucidated, myocardial involvement due to vasospasm-induced coronary blood flow reduction manifesting as Kounis syndrome should be always considered. Searching current experimental and clinical literature on anaphylactic shock pathophysiology, causality, clinical appearance, and treatment via PubMed showed that differentiating global hypoperfusion from primary tissue suppression due to mast cell mediator constrictive action on systemic arterial vasculature is a challenging procedure. Combined tissue suppression from arterial involvement and peripheral vasodilatation, perhaps, occur simultaneously. In cases of anaphylactic shock treatment targeting the primary cause of anaphylaxis together with protection of coronary vasculature and subsequently the cardiac tissue seems to be of paramount importance.

  11. Nonspecific interstitial pneumonitis: a common cause of pulmonary disease in the acquired immunodeficiency syndrome

    International Nuclear Information System (INIS)

    During a 4.4-year period, nonspecific interstitial pneumonitis was seen in 41 of 110 (38%) patients with the acquired immunodeficiency syndrome and accounted for 32% (48/152) of all episodes of clinical pneumonitis. Diffuse alveolar damage was typically a feature of nonspecific interstitial pneumonitis, but neither lung biopsy nor bronchoalveolar lavage detected a pathogen. Of these 41 patients, 13 had no associated pulmonary tumor and had not been exposed to pulmonary toxins, whereas 28 patients had either concurrent pulmonary Kaposi sarcoma, previous experimental therapies, or a history of pneumocystis pneumonia or drug abuse. Of these 41, 23 had normal chest radiographs. The clinical features of patients with nonspecific interstitial pneumonitis were similar to those of patients with pneumocystis pneumonia, although histologic findings showed less severe alveolar damage in patients with nonspecific interstitial pneumonitis (p less than 0.001). Pathologic evaluation and clinical follow-up suggest that many clinical episodes of pneumonitis in patients with the acquired immunodeficiency syndrome are due to nonspecific interstitial pneumonitis of unknown cause

  12. Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay.

    LENUS (Irish Health Repository)

    Lynch, N E

    2012-02-01

    BACKGROUND: Bannayan-Riley-Ruvalcaba syndrome (BRRS) is an autosomal dominant condition characterised by macrocephaly, developmental delay and subtle cutaneous features. BRRS results from mutations in the PTEN gene. In adults, PTEN mutations cause Cowden syndrome where, in addition to the macrocephaly, there is a higher risk of tumour development. Diagnosis of BRRS is often delayed as presentation can be variable, even within families. AIMS: To identify characteristics of this condition which might facilitate early diagnosis. Prompt diagnosis not only avoids unnecessary investigations in the child but potentially identifies heterozygote parents who are at risk of tumour development. METHODS AND RESULTS: Six children with a PTEN mutation were identified. All had extreme macrocephaly. Four parents and a male sibling were found to have a PTEN mutation on subsequent testing. Affected parents had extreme macrocephaly and a history of thyroid adenoma, or breast or skin lesions. All six children had presented to medical attention before the age of 2.5 years (3\\/6 were investigated as neonates), but the median age at diagnosis was 5 years. Four of the children had multiple investigations prior to identification of a PTEN mutation. CONCLUSION: BRRS should be considered in children with extreme macrocephaly as it is the most consistent clinical feature seen, particularly where there is a family history of macrocephaly.

  13. The McKittrick–Wheelock syndrome: a rare cause of curable diabetes

    Science.gov (United States)

    Lim, Chung Thong; Cluroe, Alison; Cameron, Ewen; O’Rahilly, Stephen

    2016-01-01

    Summary McKittrick–Wheelock syndrome (MWS) is a rare consequence of severe dehydration and electrolyte depletion due to mucinous diarrhoea secondary to a rectosigmoid villous adenoma. Reported cases of MWS commonly describe hypersecretion of mucinous diarrhoea in association with dehydration, hypokalaemia, hyponatraemia, hypochloraemia and pre-renal azotemia. Hyperglycaemia and diabetes are rarely reported manifestations of MWS. Herein we describe the case of a 59-year-old woman who presented with new-onset diabetes and severe electrolyte derangement due to a giant rectal villous adenoma. Subsequent endoscopic resection of the tumour cured her diabetes and normalised electrolytes. This case describes a rare cause of ‘curable diabetes’ and indicates hyperaldosteronism and/or whole-body potassium stores as important regulators of insulin secretion and glucose homeostasis. Learning points McKittrick–Wheelock syndrome (MWS) is typically characterised by the triad of pre-renal failure, electrolyte derangement and chronic diarrhoea resulting from a secretory colonic neoplasm. Hyperglycaemia and new-onset diabetes are rare clinical manifestations of MWS. Hyperaldosteronism and/or hypokalaemia may worsen glucose tolerance in MWS. Aggressive replacement of fluid and electrolytes is the mainstay of acute management, with definitive treatment and complete reversal of the metabolic abnormalities being achieved by endoscopic or surgical resection of the neoplasm.

  14. Renal Fanconi Syndrome Is Caused by a Mistargeting-Based Mitochondriopathy.

    Science.gov (United States)

    Assmann, Nadine; Dettmer, Katja; Simbuerger, Johann M B; Broeker, Carsten; Nuernberger, Nadine; Renner, Kathrin; Courtneidge, Holly; Klootwijk, Enriko D; Duerkop, Axel; Hall, Andrew; Kleta, Robert; Oefner, Peter J; Reichold, Markus; Reinders, Joerg

    2016-05-17

    We recently reported an autosomal dominant form of renal Fanconi syndrome caused by a missense mutation in the third codon of the peroxisomal protein EHHADH. The mutation mistargets EHHADH to mitochondria, thereby impairing mitochondrial energy production and, consequently, reabsorption of electrolytes and low-molecular-weight nutrients in the proximal tubule. Here, we further elucidate the molecular mechanism underlying this pathology. We find that mutated EHHADH is incorporated into mitochondrial trifunctional protein (MTP), thereby disturbing β-oxidation of long-chain fatty acids. The resulting MTP deficiency leads to a characteristic accumulation of hydroxyacyl- and acylcarnitines. Mutated EHHADH also limits respiratory complex I and corresponding supercomplex formation, leading to decreases in oxidative phosphorylation capacity, mitochondrial membrane potential maintenance, and ATP generation. Activity of the Na(+)/K(+)-ATPase is thereby diminished, ultimately decreasing the transport activity of the proximal tubule cells. PMID:27160910

  15. Auditory hair cell defects as potential cause for sensorineural deafness in Wolf-Hirschhorn syndrome

    Directory of Open Access Journals (Sweden)

    Mohi Ahmed

    2015-09-01

    Full Text Available WHSC1 is a histone methyltransferase (HMT that catalyses the addition of methyl groups to lysine 36 on histone 3. In humans, WHSC1 haploinsufficiency is associated with all known cases of Wolf-Hirschhorn syndrome (WHS. The cardinal feature of WHS is a craniofacial dysmorphism, which is accompanied by sensorineural hearing loss in 15% of individuals with WHS. Here, we show that WHSC1-deficient mice display craniofacial defects that overlap with WHS, including cochlea anomalies. Although auditory hair cells are specified normally, their stereocilia hair bundles required for sound perception fail to develop the appropriate morphology. Furthermore, the orientation and cellular organisation of cochlear hair cells and their innervation are defective. These findings identify, for the first time, the likely cause of sensorineural hearing loss in individuals with WHS.

  16. Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

    Science.gov (United States)

    Jaureguiberry, Graciana; De la Dure-Molla, Muriel; Parry, David; Quentric, Mickael; Himmerkus, Nina; Koike, Toshiyasu; Poulter, James; Klootwijk, Enriko; Robinette, Steven L.; Howie, Alexander J.; Patel, Vaksha; Figueres, Marie-Lucile; Stanescu, Horia C.; Issler, Naomi; Nicholson, Jeremy K.; Bockenhauer, Detlef; Laing, Christopher; Walsh, Stephen B.; McCredie, David A.; Povey, Sue; Asselin, Audrey; Picard, Arnaud; Coulomb, Aurore; Medlar, Alan J.; Bailleul-Forestier, Isabelle; Verloes, Alain; Le Caignec, Cedric; Roussey, Gwenaelle; Guiol, Julien; Isidor, Bertrand; Logan, Clare; Shore, Roger; Johnson, Colin; Inglehearn, Christopher; Al-Bahlani, Suhaila; Schmittbuhl, Matthieu; Clauss, François; Huckert, Mathilde; Laugel, Virginie; Ginglinger, Emmanuelle; Pajarola, Sandra; Spartà, Giuseppina; Bartholdi, Deborah; Rauch, Anita; Addor, Marie-Claude; Yamaguti, Paulo M.; Safatle, Heloisa P.; Acevedo, Ana Carolina; Martelli-Júnior, Hercílio; dos Santos Netos, Pedro E.; Coletta, Ricardo D.; Gruessel, Sandra; Sandmann, Carolin; Ruehmann, Denise; Langman, Craig B.; Scheinman, Steven J.; Ozdemir-Ozenen, Didem; Hart, Thomas C.; Hart, P. Suzanne; Neugebauer, Ute; Schlatter, Eberhard; Houillier, Pascal; Gahl, William A.; Vikkula, Miikka; Bloch-Zupan, Agnès; Bleich, Markus; Kitagawa, Hiroshi; Unwin, Robert J.; Mighell, Alan; Berdal, Ariane; Kleta, Robert

    2013-01-01

    Background/Aims Calcium homeostasis requires regulated cellular and interstitial systems interacting to modulate the activity and movement of this ion. Disruption of these systems in the kidney results in nephrocalcinosis and nephrolithiasis, important medical problems whose pathogenesis is incompletely understood. Methods We investigated 25 patients from 16 families with unexplained nephrocalcinosis and characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption). To identify the causative gene, we performed genome-wide linkage analysis, exome capture, next-generation sequencing, and Sanger sequencing. Results All patients had bi-allelic FAM20A mutations segregating with the disease; 20 different mutations were identified. Conclusions This au-tosomal recessive disorder, also known as enamel renal syndrome, of FAM20A causes nephrocalcinosis and amelogenesis imperfecta. We speculate that all individuals with biallelic FAM20A mutations will eventually show nephrocalcinosis. PMID:23434854

  17. The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome.

    Science.gov (United States)

    Brown, Kyla; Selfridge, Jim; Lagger, Sabine; Connelly, John; De Sousa, Dina; Kerr, Alastair; Webb, Shaun; Guy, Jacky; Merusi, Cara; Koerner, Martha V; Bird, Adrian

    2016-02-01

    Rett syndrome is caused by mutations in the X-linked MECP2 gene, which encodes a chromosomal protein that binds to methylated DNA. Mouse models mirror the human disorder and therefore allow investigation of phenotypes at a molecular level. We describe an Mecp2 allelic series representing the three most common missense Rett syndrome (RTT) mutations, including first reports of Mecp2[R133C] and Mecp2[T158M] knock-in mice, in addition to Mecp2[R306C] mutant mice. Together these three alleles comprise ∼25% of all RTT mutations in humans, but they vary significantly in average severity. This spectrum is mimicked in the mouse models; R133C being least severe, T158M most severe and R306C of intermediate severity. Both R133C and T158M mutations cause compound phenotypes at the molecular level, combining compromised DNA binding with reduced stability, the destabilizing effect of T158M being more severe. Our findings contradict the hypothesis that the R133C mutation exclusively abolishes binding to hydroxymethylated DNA, as interactions with DNA containing methyl-CG, methyl-CA and hydroxymethyl-CA are all reduced in vivo. We find that MeCP2[T158M] is significantly less stable than MeCP2[R133C], which may account for the divergent clinical impact of the mutations. Overall, this allelic series recapitulates human RTT severity, reveals compound molecular aetiologies and provides a valuable resource in the search for personalized therapeutic interventions. PMID:26647311

  18. FAM20A mutations can cause enamel-renal syndrome (ERS.

    Directory of Open Access Journals (Sweden)

    Shih-Kai Wang

    Full Text Available Enamel-renal syndrome (ERS is an autosomal recessive disorder characterized by severe enamel hypoplasia, failed tooth eruption, intrapulpal calcifications, enlarged gingiva, and nephrocalcinosis. Recently, mutations in FAM20A were reported to cause amelogenesis imperfecta and gingival fibromatosis syndrome (AIGFS, which closely resembles ERS except for the renal calcifications. We characterized three families with AIGFS and identified, in each case, recessive FAM20A mutations: family 1 (c.992G>A; g.63853G>A; p.Gly331Asp, family 2 (c.720-2A>G; g.62232A>G; p.Gln241_Arg271del, and family 3 (c.406C>T; g.50213C>T; p.Arg136* and c.1432C>T; g.68284C>T; p.Arg478*. Significantly, a kidney ultrasound of the family 2 proband revealed nephrocalcinosis, revising the diagnosis from AIGFS to ERS. By characterizing teeth extracted from the family 3 proband, we demonstrated that FAM20A(-/- molars lacked true enamel, showed extensive crown and root resorption, hypercementosis, and partial replacement of resorbed mineral with bone or coalesced mineral spheres. Supported by the observation of severe ectopic calcifications in the kidneys of Fam20a null mice, we conclude that FAM20A, which has a kinase homology domain and localizes to the Golgi, is a putative Golgi kinase that plays a significant role in the regulation of biomineralization processes, and that mutations in FAM20A cause both AIGFS and ERS.

  19. Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

    DEFF Research Database (Denmark)

    Schubert, J.; Siekierska, A.; Langlois, M.;

    2014-01-01

    Febrile seizures affect 2-4% of all children(1) and have a strong genetic component(2). Recurrent mutations in three main genes (SCN1A, SCN1B and GABRG2)(3-5) have been identified that cause febrile seizures with or without epilepsy. Here we report the identification of mutations in STX1B, encodi....... Wild-type human syntaxin-1B but not a mutated protein rescued the effects of stx1b knockdown in zebrafish. Our results thus implicate STX1B and the presynaptic release machinery in fever-associated epilepsy syndromes.......Febrile seizures affect 2-4% of all children(1) and have a strong genetic component(2). Recurrent mutations in three main genes (SCN1A, SCN1B and GABRG2)(3-5) have been identified that cause febrile seizures with or without epilepsy. Here we report the identification of mutations in STX1B, encoding...... syntaxin-1B(6), that are associated with both febrile seizures and epilepsy. Whole-exome sequencing in independent large pedigrees(7,8) identified cosegregating STX1B mutations predicted to cause an early truncation or an in-frame insertion or deletion. Three additional nonsense or missense mutations and a...

  20. Infectious Mimicry Complicates Diagnosis in Hemophagocytic Syndrome Caused by Anaplastic Large-Cell Lymphoma

    Directory of Open Access Journals (Sweden)

    Michael J. Peluso

    2012-01-01

    Full Text Available Hemophagocytic syndrome (HPS arises secondary to genetic, rheumatologic, neoplastic, and infectious causes. We discuss a patient whose presentation was consistent with systemic infection but was discovered to have HPS of unknown etiology. The presenting symptoms, as well as unremarkable malignancy and rheumatologic workups, led to the pursuit of an infectious cause, but the patient was ultimately discovered to have an occult anaplastic large-cell lymphoma (ALCL. This case demonstrates the diagnostic challenges that result from infectious mimicry in the context of HPS—first, in distinguishing noninfectious HPS from the systemic inflammation that can result from a widespread infectious process, second, in the identification of the precipitating cause of HPS. While evidence of these challenges has been suggested by the limited literature on HPS and ALCL, our case illustrates the diagnostic dilemma that arises when tissue biopsy does not quickly reveal an etiology. It is important that all physicians be aware that HPS can mimic infection and be prepared to redirect the workup when an infectious etiology for HPS cannot be identified.

  1. Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3

    Science.gov (United States)

    Chong, Jessica X.; Burrage, Lindsay C.; Beck, Anita E.; Marvin, Colby T.; McMillin, Margaret J.; Shively, Kathryn M.; Harrell, Tanya M.; Buckingham, Kati J.; Bacino, Carlos A.; Jain, Mahim; Alanay, Yasemin; Berry, Susan A.; Carey, John C.; Gibbs, Richard A.; Lee, Brendan H.; Krakow, Deborah; Shendure, Jay; Nickerson, Deborah A.; Bamshad, Michael J.; Shendure, Jay; Nickerson, Deborah A.; Abecasis, Gonçalo R.; Anderson, Peter; Blue, Elizabeth Marchani; Annable, Marcus; Browning, Brian L.; Buckingham, Kati J.; Chen, Christina; Chin, Jennifer; Chong, Jessica X.; Cooper, Gregory M.; Davis, Colleen P.; Frazar, Christopher; Harrell, Tanya M.; He, Zongxiao; Jain, Preti; Jarvik, Gail P.; Jimenez, Guillaume; Johanson, Eric; Jun, Goo; Kircher, Martin; Kolar, Tom; Krauter, Stephanie A.; Krumm, Niklas; Leal, Suzanne M.; Luksic, Daniel; Marvin, Colby T.; McMillin, Margaret J.; McGee, Sean; O’Reilly, Patrick; Paeper, Bryan; Patterson, Karynne; Perez, Marcos; Phillips, Sam W.; Pijoan, Jessica; Poel, Christa; Reinier, Frederic; Robertson, Peggy D.; Santos-Cortez, Regie; Shaffer, Tristan; Shephard, Cindy; Shively, Kathryn M.; Siegel, Deborah L.; Smith, Joshua D.; Staples, Jeffrey C.; Tabor, Holly K.; Tackett, Monica; Underwood, Jason G.; Wegener, Marc; Wang, Gao; Wheeler, Marsha M.; Yi, Qian; Bamshad, Michael J.

    2015-01-01

    Multiple pterygium syndrome (MPS) is a phenotypically and genetically heterogeneous group of rare Mendelian conditions characterized by multiple pterygia, scoliosis, and congenital contractures of the limbs. MPS typically segregates as an autosomal-recessive disorder, but rare instances of autosomal-dominant transmission have been reported. Whereas several mutations causing recessive MPS have been identified, the genetic basis of dominant MPS remains unknown. We identified four families affected by dominantly transmitted MPS characterized by pterygia, camptodactyly of the hands, vertebral fusions, and scoliosis. Exome sequencing identified predicted protein-altering mutations in embryonic myosin heavy chain (MYH3) in three families. MYH3 mutations underlie distal arthrogryposis types 1, 2A, and 2B, but all mutations reported to date occur in the head and neck domains. In contrast, two of the mutations found to cause MPS in this study occurred in the tail domain. The phenotypic overlap among persons with MPS, coupled with physical findings distinct from other conditions caused by mutations in MYH3, suggests that the developmental mechanism underlying MPS differs from that of other conditions and/or that certain functions of embryonic myosin might be perturbed by disruption of specific residues and/or domains. Moreover, the vertebral fusions in persons with MPS, coupled with evidence of MYH3 expression in bone, suggest that embryonic myosin plays a role in skeletal development. PMID:25957469

  2. Occipital horn syndrome and classical Menkes syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon

    DEFF Research Database (Denmark)

    Yasmeen, Saiqa; Lund, Katrine; De Paepe, Anne;

    2014-01-01

    Menkes disease is an X-linked disorder of copper metabolism caused by mutations in the ATP7A gene. Whereas most of the patients exhibit a severe classical form, about 9% of the patients exhibit a milder form of Menkes disease. The mildest form is called occipital horn syndrome (OHS). Mutations in...

  3. ABCD syndrome is caused by a homozygous mutation in the EDNRB gene

    NARCIS (Netherlands)

    Verheij, JBGM; Kunze, J; Osinga, J; van Essen, AJ; Hofstra, RMW

    2002-01-01

    ABCD syndrome is an autosomal recessive syndrome characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut (Hirschsprung disease [HSCR]), and deafness. This phenotype clearly overlaps with the features of the Shah-Waardenburg syndrome, comprising sensorineural deafn

  4. Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome): Six unique arylsulfatase B gene alleles causing variable disease phenotypes

    Energy Technology Data Exchange (ETDEWEB)

    Isbrandt, D.; Arlt, G.; Figura, K. von; Peters, C.; Brooks, D.A.; Hopwood, J.J.

    1994-03-01

    Mucopolysaccharidosis type VI, or Maroteaux-Lamy syndrome, is a lysosomal storage disorder caused by a deficiency of the enzyme arylsulfatase B (ASB), also known as N-acetylgalactosamine-4-sulfatase. Multiple clinical phenotypes of this autosomal recessively inherited disease have been described. Recent isolation and characterization of the human ASB gene facilitated the analysis of molecular defects underlying the different phenotypes. Conditions for PCR amplification of the entire open reading frame from genomic DNA and for subsequent direct automated DNA sequencing of the resulting DNA fragments were established. Besides two polymorphisms described elsewhere that cause methionine-for-valine substitutions in the arylsulfatase B gene, six new mutations in six patients were detected: four point mutations resulting in amino acid substitutions, a 1-bp deletion, and a 1-bp insertion. The point mutations were two G-to-A and two T-to-C transitions. The G-to-A transitions cause an arginine-for-glycine substitution at residue 144 in a homoallelic patient with a severe disease phenotype and a tyrosine-for-cysteine substitution at residue 521 in a potentially heteroallelic patient with the severe form of the disease. The T-to-C transitions cause an arginine-for-cysteine substitution at amino acid residue 192 in a homoallelic patient with mild symptoms and a proline-for-leucine substitution at amino acid 321 in a homoallelic patient with the intermediate form. The insertion between nucleotides T1284 and G1285 resulted in a loss of the 100 C-terminal amino acids of the wild-type protein and in the deletion of nucleotide C1577 in a 39-amino-acid C-terminal extension of the ASB polypeptide. Both mutations were detected in homoallelic patients with the severe form of the disease. Expression of mutant cDNAs encoding the four amino acid substitutions and the deletion resulted in reduction of both ASB protein levels and arylsulfatase enzyme activity. 25 refs., 4 figs.

  5. Catatonia in Down syndrome; a treatable cause of regression

    Directory of Open Access Journals (Sweden)

    Ghaziuddin N

    2015-04-01

    Full Text Available Neera Ghaziuddin,1 Armin Nassiri,2 Judith H Miles3 1Department of Psychiatry, University of Michigan, Ann Arbor, Michigan, 2Community Psychiatry, San Jose, California, 3Thompson Center for Autism and Neurodevelopmental Disorders and Department of Child Health, University of Missouri, Columbia, Missouri, USA Objective: The main aim of this case series report is to alert physicians to the occurrence of catatonia in Down syndrome (DS. A second aim is to stimulate the study of regression in DS and of catatonia. A subset of individuals with DS is noted to experience unexplained regression in behavior, mood, activities of daily living, motor activities, and intellectual functioning during adolescence or young adulthood. Depression, early onset Alzheimer’s, or just “the Down syndrome” are often blamed after general medical causes have been ruled out. Clinicians are generally unaware that catatonia, which can cause these symptoms, may occur in DS.Study design: Four DS adolescents who experienced regression are reported. Laboratory tests intended to rule out causes of motor and cognitive regression were within normal limits. Based on the presence of multiple motor disturbances (slowing and/or increased motor activity, grimacing, posturing, the individuals were diagnosed with unspecified catatonia and treated with anti-catatonic treatments (benzodiazepines and electroconvulsive therapy [ECT].Results: All four cases were treated with a benzodiazepine combined with ECT and recovered their baseline functioning.Conclusion: We suspect catatonia is a common cause of unexplained deterioration in adolescents and young adults with DS. Moreover, pediatricians and others who care for individuals with DS are generally unfamiliar with the catatonia diagnosis outside schizophrenia, resulting in misdiagnosis and years of morbidity. Alerting physicians to catatonia in DS is essential to prompt diagnosis, appropriate treatment, and identification of the frequency

  6. Experimental infection of bats with Geomyces destructans causes white-nose syndrome

    Science.gov (United States)

    Lorch, J.M.; Meteyer, C.U.; Behr, M.J.; Boyles, J.G.; Cryan, P.M.; Hicks, A.C.; Ballmann, A.E.; Coleman, J.T.H.; Redell, D.N.; Reeder, D.M.; Blehert, D.S.

    2011-01-01

    White-nose syndrome (WNS) has caused recent catastrophic declines among multiple species of bats in eastern North America. The disease's name derives from a visually apparent white growth of the newly discovered fungus Geomyces destructans on the skin (including the muzzle) of hibernating bats. Colonization of skin by this fungus is associated with characteristic cutaneous lesions that are the only consistent pathological finding related to WNS. However, the role of G. destructans in WNS remains controversial because evidence to implicate the fungus as the primary cause of this disease is lacking. The debate is fuelled, in part, by the assumption that fungal infections in mammals are most commonly associated with immune system dysfunction. Additionally, the recent discovery that G. destructans commonly colonizes the skin of bats of Europe, where no unusual bat mortality events have been reported, has generated further speculation that the fungus is an opportunistic pathogen and that other unidentified factors are the primary cause of WNS. Here we demonstrate that exposure of healthy little brown bats (Myotis lucifugus) to pure cultures of G. destructans causes WNS. Live G. destructans was subsequently cultured from diseased bats, successfully fulfilling established criteria for the determination of G. destructans as a primary pathogen. We also confirmed that WNS can be transmitted from infected bats to healthy bats through direct contact. Our results provide the first direct evidence that G. destructans is the causal agent of WNS and that the recent emergence of WNS in North America may represent translocation of the fungus to a region with a naive population of animals. Demonstration of causality is an instrumental step in elucidating the pathogenesis and epidemiology of WNS and in guiding management actions to preserve bat populations against the novel threat posed by this devastating infectious disease. ?? 2011 Macmillan Publishers Limited. All rights reserved.

  7. Antiphospholipid Syndrome

    Science.gov (United States)

    ... Awards Enhancing Diversity Find People About NINDS NINDS Antiphospholipid Syndrome Information Page Synonym(s): Hughes Syndrome Table of Contents ( ... research is being done? Clinical Trials What is Antiphospholipid Syndrome? Antiphospholipid syndrome (APS) is an autoimmune disorder caused ...

  8. Degenerative diseases of the spine. Rare and often unrecognized causes of pain syndromes

    International Nuclear Information System (INIS)

    The aim of this article is to describe rare and often unrecognized causes of spinal pain syndromes. Intervertebral disc degeneration frequently appears in early adulthood and can have a symptomatic or asymptomatic course. This article discusses incidence, pathophysiology, imaging, and pain symptomatology involved in the origin of back pain. Anulus tears are often found in asymptomatic individuals but could be implicated in lumbar pain symptomatology in correlation with the provocative discography. Transient disorders can lead to pseudarthrosis of the iliac bone and to degeneration or to a reactive hypermobility with intervertebral disc degeneration in the level above. Modic type 1 erosive osteochondrosis is characterized by bone marrow edema near the hyaline cartilage end plate, which mostly elicits severe pain and results in serious limitations in everyday activities. The most important differential diagnosis is spondylodiscitis. Schmorl's nodes can exhibit considerable surrounding bone marrow edema that can be mistaken for metastases. A combination of MRI and CT should be employed for the diagnostic work-up of fatigue fracture of the interarticular portion, which is often overlooked due to its location. Synovial cysts of the facet joints can lead to radicular symptoms. Insufficiency fracture of the sacrum is frequently mistaken for metastasis due to intense scintigraphic enhancement and its signal behavior in MRI. CT provides instructive information. Differential diagnosis should include less common causes such as anulus tears, transient disorders, activated Schmorl's nodes, synovial cysts of the facet joints, fatigue fractures of the interarticular portion of the spine and the sacrum and distinguish from metastases in particular. (orig.)

  9. Segmental basal cell naevus syndrome caused by an activating mutation in smoothened.

    Science.gov (United States)

    Khamaysi, Z; Bochner, R; Indelman, M; Magal, L; Avitan-Hersh, E; Sarig, O; Sprecher, E; Bergman, R

    2016-07-01

    Aberrant sonic hedgehog signalling, mostly due to PTCH1 mutations, has been shown to play a central role in the pathogenesis of basal cell carcinoma (BCC), as well as in basal cell naevus syndrome (BCNS). Mutations in smoothened (SMO) encoding a receptor for sonic hedgehog have been reported in sporadic BCCs but not in BCNS. We report a case with multiple BCCs, pits and comedones in a segmental distribution over the upper part of the body, along with other findings compatible with BCNS. Histopathologically, there were different types of BCC. A heterozygous mutation (c.1234C>T, p.L412F) in SMO was detected in three BCCs but not in peripheral blood lymphocytes or the uninvolved skin. These were compatible with the type 1 mosaic form of BCNS. The p.L412F mutation was found experimentally to result in increased SMO transactivating activity, and the patient responded to vismodegib therapy. Activating mutations in SMO may cause BCNS. The identification of a gain-of-function mutation in SMO causing a type 1 mosaic form of BCNS further expands our understanding of the pathogenesis of BCC, with implications for the treatment of these tumours, whether sporadic or inherited. PMID:26822128

  10. Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons

    Energy Technology Data Exchange (ETDEWEB)

    Nijbroek, G.; Sood, S.; McIntosh, I. [John Hopkins Univ. School of Medicine, Baltimore, MD (United States)] [and others

    1995-07-01

    Mutations in the gene encoding fibrillin-1 (FBN1), a component of the extracellular microfibril, cause the Marfan syndrome (MFS). This statement is supported by the observations that the classic Marfan phenotype cosegregates with intragenic and/or flanking marker alleles in all families tested and that a significant number of FBN1 mutations have been identified in affected individuals. We have now devised a method to screen the entire coding sequence and flanking splice junctions of FBN1. On completion for a panel of nine probands with classic MFS, six new mutations were identified that accounted for disease in seven (78%) of nine patients. Nine additional new mutations have been characterized in the early stages of a larger screening project. These 15 mutations were equally distributed throughout the gene and, with one exception, were specific to single families. One-third of mutations created premature termination codons, and 6 of 15 substituted residues with putative significance for calcium finding to epidermal growth factor (EGF)-like domains. Mutations causing severe and rapidly progressive disease that presents in the neonatal period can occur in a larger region of the gene than previously demonstrated, and the nature of the mutation is as important a determinant as its location, in predisposing to this phenotype. 56 refs., 5 figs., 3 tabs.

  11. Duck egg-drop syndrome caused by BYD virus, a new Tembusu-related flavivirus.

    Directory of Open Access Journals (Sweden)

    Jingliang Su

    Full Text Available Since April 2010, a severe outbreak of duck viral infection, with egg drop, feed uptake decline and ovary-oviduct disease, has spread around the major duck-producing regions in China. A new virus, named BYD virus, was isolated in different areas, and a similar disease was reproduced in healthy egg-producing ducks, infecting with the isolated virus. The virus was re-isolated from the affected ducks and replicated well in primary duck embryo fibroblasts and Vero cells, causing the cytopathic effect. The virus was identified as an enveloped positive-stranded RNA virus with a size of approximately 55 nm in diameter. Genomic sequencing of the isolated virus revealed that it is closely related to Tembusu virus (a mosquito-borne Ntaya group flavivirus, with 87-91% nucleotide identity of the partial E (envelope proteins to that of Tembusu virus and 72% of the entire genome coding sequence with Bagaza virus, the most closely related flavivirus with an entirely sequenced genome. Collectively our systematic studies fulfill Koch's postulates, and therefore, the causative agent of the duck egg drop syndrome occurring in China is a new flavivirus. Flavivirus is an emerging and re-emerging zoonotic pathogen and BYD virus that causes severe egg-drop, could be disastrous for the duck industry. More importantly its public health concerns should also be evaluated, and its epidemiology should be closely watched due to the zoonotic nature of flaviviruses.

  12. Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia.

    Science.gov (United States)

    Chen, Wuyan; Perritt, Ashley F; Morissette, Rachel; Dreiling, Jennifer L; Bohn, Markus-Frederik; Mallappa, Ashwini; Xu, Zhi; Quezado, Martha; Merke, Deborah P

    2016-09-01

    Some variants that cause autosomal-recessive congenital adrenal hyperplasia (CAH) also cause hypermobility type Ehlers-Danlos syndrome (EDS) due to the monoallelic presence of a chimera disrupting two flanking genes: CYP21A2, encoding 21-hydroxylase, necessary for cortisol and aldosterone biosynthesis, and TNXB, encoding tenascin-X, an extracellular matrix protein. Two types of CAH tenascin-X (CAH-X) chimeras have been described with a total deletion of CYP21A2 and characteristic TNXB variants. CAH-X CH-1 has a TNXB exon 35 120-bp deletion resulting in haploinsufficiency, and CAH-X CH-2 has a TNXB exon 40 c.12174C>G (p.Cys4058Trp) variant resulting in a dominant-negative effect. We present here three patients with biallelic CAH-X and identify a novel dominant-negative chimera termed CAH-X CH-3. Compared with monoallelic CAH-X, biallelic CAH-X results in a more severe phenotype with skin features characteristic of classical EDS. We present evidence for disrupted tenascin-X function and computational data linking the type of TNXB variant to disease severity. PMID:27297501

  13. Lacrimal punctum occlusion in the treatment of severe keratoconjunctivitis sicca caused by Sjogren syndrome - A uniocular evaluation

    NARCIS (Netherlands)

    Mansour, Khaled; Leonhardt, Carolien J.; Kalk, Wouter W.; Bootsma, Hendrika; Bruin, Klaas J.; Blanksma, Lieuwe J.

    2007-01-01

    Purpose: A controlled uniocular study to evaluate the short-term efficacy of lacrimal punctum occlusion in the treatment of severe dry eye caused by Sjogren syndrome. Methods: Uniocular punctum occlusion by punctum plug in the upper and lower puncta in 1 eye was performed in 20 patients with severe

  14. Gingival overgrowth caused by vitamin C deficiency associated with metabolic syndrome and severe periodontal infection: a case report.

    Science.gov (United States)

    Omori, Kazuhiro; Hanayama, Yoshihisa; Naruishi, Koji; Akiyama, Kentaro; Maeda, Hiroshi; Otsuka, Fumio; Takashiba, Shogo

    2014-12-01

    It has been suggested that vitamin C deficiency/scurvy is associated with gingival inflammatory changes; however, the disorder is very infrequently encountered in the modern era. Here, we report a case of extensive gingival overgrowth caused by vitamin C deficiency associated with metabolic syndrome and severe periodontal infection. PMID:25548632

  15. Gingival overgrowth caused by vitamin C deficiency associated with metabolic syndrome and severe periodontal infection: a case report

    OpenAIRE

    Omori, Kazuhiro; Hanayama, Yoshihisa; Naruishi, Koji; Akiyama, Kentaro; Maeda, Hiroshi; Otsuka, Fumio; Takashiba, Shogo

    2014-01-01

    It has been suggested that vitamin C deficiency/scurvy is associated with gingival inflammatory changes; however, the disorder is very infrequently encountered in the modern era. Here, we report a case of extensive gingival overgrowth caused by vitamin C deficiency associated with metabolic syndrome and severe periodontal infection.

  16. Causes of Age-Related Decline in Adaptive Behavior of Adults with Down Syndrome: Differential Diagnoses of Dementia.

    Science.gov (United States)

    Prasher, V. P.; Chung, Man Cheung

    1996-01-01

    A study was conducted of 201 adults with Down's syndrome to investigate the differential causes of decline in adaptive behavior. Results indicated that aging, dementia, and severity of mental retardation were significant factors, while absence of a medical illness predicted a higher level of adaptive behavior. (CR)

  17. Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease

    OpenAIRE

    Roelfsema, J H; White, S J; Ariyürek, Y.; Bartholdi, D; Niedrist, D.; Papadia, F.; Bacino, C.A.; Dunnen, den, J.T.; Ommen, van, G.J.B; Breuning, M H; Hennekam, R C M; Peters, D.J.M.

    2005-01-01

    CREB-binding protein and p300 function as transcriptional coactivators in the regulation of gene expression through various signal-transduction pathways. Both are potent histone acetyl transferases. A certain level of CREB-binding protein is essential for normal development, since inactivation of one allele causes Rubinstein-Taybi syndrome (RSTS). There is a direct link between loss of acetyl transferase activity and RSTS, which indicates that the disorder is caused by aberrant chromatin regu...

  18. [Ballantyne syndrome caused by materno-fetal Parvovirus B19 infection: about two cases].

    Science.gov (United States)

    Desvignes, F; Bourdel, N; Laurichesse-Delmas, H; Savary, D; Gallot, D

    2011-05-01

    Ballantyne's syndrome also known as Mirror syndrome is the association of fetal hydrops and maternal hydric retention. The maternal condition is often misdiagnosed as preeclampsia. We report two cases of Ballantyne syndrome associated with materno-fetal Parvovirus B19 infection. In the first case, the syndrome occurred at 26GW in a context of premature rupture of membranes. Parents and medical staff opted for termination of pregnancy because of the poor fetal prognosis. Maternal symptoms regressed after delivery. In the second case, the patient presented a Ballantyne's syndrome at 25GW. Intrauterine transfusions reversed symptomatology. Fetal hydrops of any etiology can be associated with this syndrome. Specific treatment of the fetus can avoid maternal complication allowing continuation of the pregnancy. PMID:21273007

  19. An overlooked cause of resistant hypertension: upper airway resistance syndrome - preliminary results

    OpenAIRE

    Muntecep Asker; Selvi Asker; Ugur Kucuk; Hilal Olgun Kucuk

    2014-01-01

    OBJECTIVE: Upper airway resistance syndrome is a sleep-disordered breathing syndrome that is characterized by repetitive arousals resulting in sympathetic overactivity. We aimed to determine whether upper airway resistance syndrome was associated with poorly controlled hypertension. METHODS: A total of 40 patients with resistant hypertension were enrolled in the study. All of the patients underwent polysomnographic examinations and 24-hour ambulatory blood pressure monitoring to exclude whi...

  20. An overlooked cause of resistant hypertension: upper airway resistance syndrome - preliminary results

    OpenAIRE

    Asker, Muntecep; Asker, Selvi; Kucuk, Ugur; Kucuk, Hilal Olgun

    2014-01-01

    OBJECTIVE: Upper airway resistance syndrome is a sleep-disordered breathing syndrome that is characterized by repetitive arousals resulting in sympathetic overactivity. We aimed to determine whether upper airway resistance syndrome was associated with poorly controlled hypertension. METHODS: A total of 40 patients with resistant hypertension were enrolled in the study. All of the patients underwent polysomnographic examinations and 24-hour ambulatory blood pressure monitoring to exclude white...

  1. Acute liver failure caused by drug-induced hypersensitivity syndrome associated with hyperferritinemia

    Directory of Open Access Journals (Sweden)

    Masayuki Miyazaki

    2011-01-01

    Full Text Available Drug-induced hypersensitivity syndrome (DIHS is a severe reaction usually characterized by fever, rash, and multiorgan failure, occurring 2-6 wk after drug introduction. It is an immune-mediated reaction involving macrophage and T-lymphocyte activation and cytokine release. A 54-year-old woman was diagnosed with rheumatic arthritis and initiated salazosulfapyridine by mouth. About 10 d later, she had a high fever, skin rash and liver dysfunction. She was admitted to hospital and diagnosed with a drug eruption. She was treated with oral prednisolone 30 mg/d; however, she developed high fever again and her blood tests showed acute liver failure and cytopenia associated with hyperferritinemia. She was diagnosed with acute liver failure and hemophagocytosis caused by DIHS. She was transferred to the Department of Medicine and Bioregulatory Science, Kyushu University, where she was treated with arterial steroid injection therapy. Following this treatment, her liver function improved and serum ferritin immediately decreased. We hypothesized that an immune-mediated reaction in DIHS may have generated over-activation of macrophages and T-lymphocytes, followed by a cytokine storm that affected various organs. The measurement of serum ferritin might be a useful marker of the severity of DIHS.

  2. Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population.

    Science.gov (United States)

    Castellsagué, E; Liu, J; Volenik, A; Giroux, S; Gagné, R; Maranda, B; Roussel-Jobin, A; Latreille, J; Laframboise, R; Palma, L; Kasprzak, L; Marcus, V A; Breguet, M; Nolet, S; El-Haffaf, Z; Australie, K; Gologan, A; Aleynikova, O; Oros-Klein, K; Greenwood, C; Mes-Masson, A M; Provencher, D; Tischkowitz, M; Chong, G; Rousseau, F; Foulkes, W D

    2015-06-01

    We identified an MSH6 mutation (c.10C>T, p.Gln4*) causing Lynch syndrome (LS) in 11 French Canadian (FC) families from the Canadian province of Quebec. We aimed to investigate the molecular and clinical implications of this mutation among FC carriers and to assess its putative founder origin. We studied 11 probands and 27 family members. Additionally 6433 newborns, 187 colorectal cancer (CRC) cases, 381 endometrial cancer (EC) cases and 179 additional controls, all of them from Quebec, were used. Found in approximately 1 of 400 newborns, the mutation is one of the most common LS mutations described. We have found that this mutation confers a greater risk for EC than for CRC, both in the 11 studied families and in the unselected cases: EC [odds ratio (OR) = 7.5, p < 0.0001] and CRC (OR = 2.2, p = 0.46). Haplotype analyses showed that the mutation arose in a common ancestor, probably around 430-656 years ago, coinciding with the arrival of the first French settlers. Application of the results of this study could significantly improve the molecular testing and clinical management of LS families in Quebec. PMID:25318681

  3. Severe hyponatremia caused by nab-paclitaxel-induced syndrome of inappropriate antidiuretic hormone secretion

    Science.gov (United States)

    Neuzillet, Cindy; Babai, Samy; Kempf, Emmanuelle; Pujol, Géraldine; Rousseau, Benoît; Le-Louët, Hervé; Christophe Tournigand

    2016-01-01

    Abstract Incidence of pancreatic ductal adenocarcinoma (PDAC) is increasing. Most patients have advanced disease at diagnosis and therapeutic options in this setting are limited. Gemcitabine plus nab-paclitaxel regimen was demonstrated to increase survival compared with gemcitabine monotherapy and is therefore indicated as first-line therapy in patients with metastatic PDAC and performance status Eastern Cooperative Oncology Group (ECOG) 0-2. The safety profile of gemcitabine and nab-paclitaxel combination includes neutropenia, fatigue, and neuropathy as most common adverse events of grade 3 or higher. No case of severe hyponatremia associated with the use of nab-paclitaxel for the treatment of PDAC has been reported to date. We report the case of a 72-year-old Caucasian man with a metastatic PDAC treated with gemcitabine and nab-paclitaxel regimen, who presented with a severe hyponatremia (grade 4) caused by a documented syndrome of inappropriate antidiuretic hormone secretion (SIADH). This SIADH was attributed to nab-paclitaxel after a rigorous imputability analysis, including a rechallenge procedure with dose reduction. After dose and schedule adjustment, nab-paclitaxel was pursued without recurrence of severe hyponatremia and with maintained efficacy. Hyponatremia is a rare but potentially severe complication of nab-paclitaxel therapy that medical oncologists and gastroenterologists should be aware of. Nab-paclitaxel-induced hyponatremia is manageable upon dose and schedule adaptation, and should not contraindicate careful nab-paclitaxel reintroduction. This is of particular interest for a disease in which the therapeutic options are limited. PMID:27368013

  4. Lung Postmortem Autopsy Revealing Extramedullary Involvement in Multiple Myeloma Causing Acute Respiratory Distress Syndrome

    Directory of Open Access Journals (Sweden)

    Aurélie Ravinet

    2014-01-01

    Full Text Available Pulmonary involvement with multiple myeloma is rare. We report the case of a 61-year-old man with past medical history of chronic respiratory failure with emphysema, and a known multiple myeloma (Durie and Salmon stage III B and t(4;14 translocation. Six months after diagnosis and first line of treatment, he presented acute dyspnea with interstitial lung disease. Computed tomography showed severe bullous emphysema and diffuse, patchy, multifocal infiltrations bilaterally with nodular character, small bilateral pleural effusions, mediastinal lymphadenopathy, and a known lytic lesion of the 12th vertebra. He was treated with piperacillin-tazobactam, amikacin, oseltamivir, and methylprednisolone. Finally, outcome was unfavourable. Postmortem analysis revealed diffuse and nodular infracentimetric infiltration of the lung parenchyma by neoplastic plasma cells. Physicians should be aware that acute respiratory distress syndrome not responding to treatment of common causes could be a manifestation of the disease, even with negative BAL or biopsy and could be promptly treated with salvage therapy.

  5. Computer vision syndrome: a review of ocular causes and potential treatments.

    Science.gov (United States)

    Rosenfield, Mark

    2011-09-01

    Computer vision syndrome (CVS) is the combination of eye and vision problems associated with the use of computers. In modern western society the use of computers for both vocational and avocational activities is almost universal. However, CVS may have a significant impact not only on visual comfort but also occupational productivity since between 64% and 90% of computer users experience visual symptoms which may include eyestrain, headaches, ocular discomfort, dry eye, diplopia and blurred vision either at near or when looking into the distance after prolonged computer use. This paper reviews the principal ocular causes for this condition, namely oculomotor anomalies and dry eye. Accommodation and vergence responses to electronic screens appear to be similar to those found when viewing printed materials, whereas the prevalence of dry eye symptoms is greater during computer operation. The latter is probably due to a decrease in blink rate and blink amplitude, as well as increased corneal exposure resulting from the monitor frequently being positioned in primary gaze. However, the efficacy of proposed treatments to reduce symptoms of CVS is unproven. A better understanding of the physiology underlying CVS is critical to allow more accurate diagnosis and treatment. This will enable practitioners to optimize visual comfort and efficiency during computer operation. PMID:21480937

  6. Hepatic sinusoidal obstruction syndrome caused by herbal medicine: CT and MRI features

    International Nuclear Information System (INIS)

    To describe the CT and MRI features of hepatic sinusoidal obstruction syndrome (HSOS) caused by herbal medicine Gynura segetum. The CT and MRI features of 16 consecutive Gynura segetum induced HSOS cases (12 men, 4 women) were analyzed. Eight patients had CT; three patients had MRI, and the remaining five patients had both CT and MRI examinations. Based on their clinical presentations and outcomes, the patients were classified into three categories: mild, moderate, and severe. The severity of the disease was also evaluated radiologically based on the abnormal hepatic patchy enhancement in post-contrast CT or MRI images. Ascites, patchy liver enhancement, and main right hepatic vein narrowing or occlusion were present in all 16 cases. Hepatomegaly and gallbladder wall thickening were present in 14 cases (87.5%, 14/16). Periportal high intensity on T2-weighted images was present in 6 cases (75%, 6/8). Normal liver parenchymal enhancement surrounding the main hepatic vein forming a clover-like sign was observed in 4 cases (25%, 4/16). The extent of patchy liver enhancement was statistically associated with clinical severity classification (kappa = 0.565). Ascites, patchy liver enhancement, and the main hepatic veins narrowing were the most frequent signs of herbal medicine induced HSOS. The grade of abnormal patchy liver enhancement was associated with the clinical severity.

  7. Towards a better understanding of white syndromes and their causes on Indo-Pacific coral reefs

    Science.gov (United States)

    Bourne, D. G.; Ainsworth, T. D.; Pollock, F. J.; Willis, B. L.

    2015-03-01

    Disease is increasingly recognized as a threat to coral reef ecosystems, particularly in the light of increasing anthropogenic disturbances that disrupt important symbiotic partnerships within the coral holobiont. White syndromes (WSs) are a prevalent group of coral diseases in the Indo-Pacific region that have been the focus of an increasing number of investigations over the past decade. Here, we summarize the current state of knowledge on WSs, advocate the use of established standardized criteria to describe disease lesions at gross and cellular levels to move the field forward, and highlight potential erroneous characterization of underlying causes that hinders ongoing progress in coral disease research. We argue for retention of the general term WSs for Indo-Pacific cases of tissue loss lacking distinguishing macroscopic signs and with unknown aetiologies, but erection of more specific names once standardized criteria are met. Recent advances in WS disease pathology, microbial ecology, physiology, ecology and environmental drivers are discussed and the need for greater application of interdisciplinary approaches is emphasized. Following recent widespread reports of WSs on coral reefs, a clear, concise perspective is needed to provide a focus for further research and avoid confusion in the study of this virulent group of diseases.

  8. A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1.

    Directory of Open Access Journals (Sweden)

    Junyu Zhang

    Full Text Available Autoimmune polyendocrine syndrome type 1 (APS-1 is a rare autosomal recessive disease defined by the presence of two of the three conditions: mucocutaneous candidiasis, hypoparathyroidism, and Addison's disease. Loss-of-function mutations of the autoimmune regulator (AIRE gene have been linked to APS-1. Here we report mutational analysis and functional characterization of an AIRE mutation in a consanguineous Chinese family with APS-1. All exons of the AIRE gene and adjacent exon-intron sequences were amplified by PCR and subsequently sequenced. We identified a homozygous missense AIRE mutation c.463G>A (p.Gly155Ser in two siblings with different clinical features of APS-1. In silico splice-site prediction and minigene analysis were carried out to study the potential pathological consequence. Minigene splicing analysis and subsequent cDNA sequencing revealed that the AIRE mutation potentially compromised the recognition of the splice donor of intron 3, causing alternative pre-mRNA splicing by intron 3 retention. Furthermore, the aberrant AIRE transcript was identified in a heterozygous carrier of the c.463G>A mutation. The aberrant intron 3-retaining transcript generated a truncated protein (p.G155fsX203 containing the first 154 AIRE amino acids and followed by 48 aberrant amino acids. Therefore, our study represents the first functional characterization of the alternatively spliced AIRE mutation that may explain the pathogenetic role in APS-1.

  9. Temperature-dependent growth of Geomyces destructans, the fungus that causes bat white-nose syndrome

    Science.gov (United States)

    Verant, Michelle L.; Boyles, Justin G.; Waldrep, William, Jr.; Wibbelt, Gudrun; Blehert, David S.

    2012-01-01

    White-nose syndrome (WNS) is an emergent disease estimated to have killed over five million North American bats. Caused by the psychrophilic fungus Geomyces destructans, WNS specifically affects bats during hibernation. We describe temperature-dependent growth performance and morphology for six independent isolates of G. destructans from North America and Europe. Thermal performance curves for all isolates displayed an intermediate peak with rapid decline in performance above the peak. Optimal temperatures for growth were between 12.5 and 15.8°C, and the upper critical temperature for growth was between 19.0 and 19.8°C. Growth rates varied across isolates, irrespective of geographic origin, and above 12°C all isolates displayed atypical morphology that may have implications for proliferation of the fungus. This study demonstrates that small variations in temperature, consistent with those inherent of bat hibernacula, affect growth performance and physiology of G. destructans, which may influence temperature-dependent progression and severity of WNS in wild bats.

  10. Bronchopulmonary Carcinoids causing Cushing Syndrome: Results from a Multicentric Study Suggesting a More Aggressive Behavior.

    Science.gov (United States)

    Lococo, Filippo; Margaritora, Stefano; Cardillo, Giuseppe; Filosso, Perluigi; Novellis, Pierluigi; Rapicetta, Cristian; Carleo, Francesco; Bora, Giulia; Cesario, Alfredo; Stefani, Alessandro; Rossi, Giulio; Paci, Massimiliano

    2016-03-01

    Objective Cushing syndrome (CS) caused by bronchopulmonary carcinoids (BCs) is a very rare entity. The aim of this study was to revisit the features of a multicenter clinical series to identify significant prognostic factors. Methods From January 2002 to December 2013, the clinical and pathological data of 23 patients (treated in five different institutions) were retrospectively reviewed. Survival analysis was performed to explore the relative weight of potential prognostic factors. Results Median age and male/female ratio were 48 years and 14/9, respectively. Most (> 80%) of the patients presented with CS-related symptoms at diagnosis. Tumor location was peripheral in 13 patients (57%) and central in 10 (43%). All patients but two (treated with chemotherapy) underwent surgical resection with curative intent. Definitive cyto/histology was indicative of typical carcinoid (TC) in 16 cases (70%) and atypical carcinoid (AC) in 7 cases (30%). A complete remission of CS was obtained in 16 cases (70%). Lymph nodal involvement was detected in 11 cases (48%), with N2 disease occurring in 7 (∼ 30% of all cases). Four patients (22%) experienced a relapse of the disease after radical surgery. Overall 5-year survival (long-term survival, LTS) was 60%, better in TCs when compared with AC (LTS: 66 v s. 48%, p = 0.28). Log-rank analysis identified ECOG performance status, cTNM and cN staging, pTNM and pN staging, persistence of CS and relapses (local p = 0.006; distant p = 0.001) as significant prognostic factors in this cohort of patients. Conclusion BCs causing CS are characterized by a high rate of lymph-nodal involvement, a suboptimal prognosis (5-year survival = 60%, 66% in TCs) and a remarkable risk of relapse even after radical resection. Advanced stage, lymph-nodal involvement and the persisting of the CS after treatment correlate with a poor prognosis. PMID:26220696

  11. Unusual cause for recurrent Cushing syndrome and its diagnosis by computed tomography and NP-59 radiocholesterol scanning

    Energy Technology Data Exchange (ETDEWEB)

    Harris, R.D.; Herwig, K.R. (Univ. of California, Irvine, Orange (USA))

    1990-09-01

    Cushing syndrome can recur following an adrenalectomy. One of the primary causes is recurrence of adrenal carcinoma either locally or from metastases. Hyperplasia and hyperfunction of adrenal remnants may also occur if there is pituitary stimulation. We have a patient in whom recurrent Cushing syndrome developed from small nonmalignant deposits of adrenal tissue in the perirenal adipose tissue following adrenalectomy of a benign adenoma. These deposits were identifiable by computed tomography. A false-negative NP-59 iodocholesterol scan was instructive in pointing out some problems in the interpretation of this type of scan for adrenal tissue.

  12. Unusual cause for recurrent Cushing syndrome and its diagnosis by computed tomography and NP-59 radiocholesterol scanning

    International Nuclear Information System (INIS)

    Cushing syndrome can recur following an adrenalectomy. One of the primary causes is recurrence of adrenal carcinoma either locally or from metastases. Hyperplasia and hyperfunction of adrenal remnants may also occur if there is pituitary stimulation. We have a patient in whom recurrent Cushing syndrome developed from small nonmalignant deposits of adrenal tissue in the perirenal adipose tissue following adrenalectomy of a benign adenoma. These deposits were identifiable by computed tomography. A false-negative NP-59 iodocholesterol scan was instructive in pointing out some problems in the interpretation of this type of scan for adrenal tissue

  13. Tricho-rhino-phalangeal syndrome type I as a “cis-ruption disorder” caused by a translocation

    OpenAIRE

    Marques, Bárbara; Ferreira, Cristina; Araújo, Carlos; Vieira, Luís; Martins, Márcia; Pinto, Maximina; Dias, Cristina; David, Dezső

    2011-01-01

    Tricho-rhino-phalangeal syndrome type I (TRPS I; OMIM 190350) and type II (OMIM 150230) are two forms of the rare autosomal-dominant TRP malformation syndrome localised in 8q23.3–24.1. TRPS I is generally caused by point mutations or deletions of the TRPS1 gene, whereas type II is characterised by the presence of multiple cartilage exostoses (EXT) and deletions comprising the TRPS1 and EXT1 genes. In the present study, we have mapped and sequenced the breakpoints of a balanced familial transl...

  14. What Is Down Syndrome?

    Science.gov (United States)

    ... NDSS Home » Down Syndrome » What Is Down Syndrome? What Is Down Syndrome? In every cell in the ... chromosome 21 causes the characteristics of Down syndrome. What Causes Down Syndrome? Regardless of the type of ...

  15. Down Syndrome: Eye Problems

    Science.gov (United States)

    ... En Español Read in Chinese What causes Down syndrome? Down syndrome is caused by a duplication of all ... in persons with Down syndrome. How common is Down syndrome? The frequency of Down syndrome is approximately 1 ...

  16. Cushing's Syndrome caused by pigmented adrenocortical micro nodular dysplasia - A familial case

    International Nuclear Information System (INIS)

    Introduction: We present a Case of Cushing's syndrome (CS) in a 16 year old male adolescent. Adrenocortical micro nodular dysplasia is a rare cause of CS. It mostly develops in the first two decades of life. In pathogenesis a stimulatory effect of circulating Immunoglobulins on adrenal steroidogenesis has been postulated. Familial cases have been reported in relation to Carney's Syndrome. We report the clinical case at first diagnosis and preoperative follow up of 1 year prior to treatment. The leading symptoms were severe bilateral (fibrotic) gynaecomastia, weight gain and growth retardation, without hypertension,but osteoporosis, secondary hypogonadism and glucose intolerance. Laboratory findings and the results of functional tests were diagnostic for CS. In addition LDH (I-131 Isotopes), CK, Lipoproteins, GPT, Androstendion, Prolactin were elevated. MRI abdomen revealed a slight enlargement of the adrenals, and suspected a bilateral micro nodular dysplasia. Iodo-cholesterol-scan under dexamethason suppression showed a diffuse bilateral Iodo-cholesterol uptake confirming the autonomous production of cortisol bilateral in the adrenals.Whole body bone scan showed a diffuse reduced diphosphonate uptake in the skeleton and the growth plates. The bone mineral density was significantly reduced.Radiologically osteoporosis was overt. The rapid increase of free urinary cortisol excretion/24h within one year of observation led to a total bilateral adrenalectomy. Postoperative 5 year follow up examinations. Documentation of the outcome and recovery of clinical signs,symptoms and laboratory findings, discussion about the most appropriate long-term substitution therapy. Familial anamnesis:affected family member was the father (micro nodular bilateral adrenocortical dysplasia), the aunt (pararenal incidentaloma, histologically lipoma) and a cousin (micro nodular adrenocortical dysplasia). Sequential analysis of the menin gene from the patient was negative.The detection of

  17. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

    DEFF Research Database (Denmark)

    Hoischen, Alexander; van Bon, Bregje W M; Rodríguez-Santiago, Benjamín; Gilissen, Christian; Vissers, Lisenka E L M; de Vries, Petra; Janssen, Irene; van Lier, Bart; Hastings, Rob; Smithson, Sarah F; Newbury-Ecob, Ruth; Kjærgaard, Susanne; Goodship, Judith; McGowan, Ruth; Bartholdi, Deborah; Rauch, Anita; Peippo, Maarit; Cobben, Jan M; Wieczorek, Dagmar; Gillessen-Kaesbach, Gabriele; Veltman, Joris A; Brunner, Han G; de Vries, Bert B B A

    2011-01-01

    Bohring-Opitz syndrome is characterized by severe intellectual disability, distinctive facial features and multiple congenital malformations. We sequenced the exomes of three individuals with Bohring-Opitz syndrome and in each identified heterozygous de novo nonsense mutations in ASXL1, which is...

  18. No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome

    DEFF Research Database (Denmark)

    Boonen, Susanne E; Hahnemann, Johanne M D; Mackay, Deborah; Tommerup, Niels; Brøndum-Nielsen, Karen; Tümer, Zeynep; Grønskov, Karen

    2012-01-01

    Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome, which, in 50-60% of sporadic cases, is caused by hypomethylation of KCNQ1OT1 differentially methylated region (DMR) at chromosome 11p15.5. The underlying defect of this hypomethylation is largely unknown. Recently, recessive mutations of...... the ZFP57 gene were reported in patients with transient neonatal diabetes mellitus type 1, showing hypomethylation at multiple imprinted loci, including KCNQ1OT1 DMR in some. The aim of our study was to determine whether ZFP57 alterations were a genetic cause of the hypomethylation at KCNQ1OT1 DMR in...... patients with BWS. We sequenced ZFP57 in 27 BWS probands and in 23 available mothers to test for a maternal effect. We identified three novel, presumably benign sequence variants in ZFP57; thus, we found no evidence for ZFP57 alterations as a major cause in sporadic BWS cases....

  19. A rare cause of acute abdominal pain: Herlyn-Werner-Wunderlich syndrome.

    Science.gov (United States)

    Aydin, Ramazan; Ozdemir, Ayse Zehra; Ozturk, Bahadir; Bilgici, Meltem Ceyhan; Tosun, Migraci

    2014-01-01

    Herlyn-Werner-Wunderlich (HWW) syndrome is a rare müllerian duct anomaly with uterus didelphys, unilateral obstructed hemivagina, and ipsilateral renal agenesis. Patients with this syndrome generally present after menarche with pelvic pain and mass and, rarely, primary infertility in later years. Strong suspicion and knowledge of this syndrome are mandatory for an accurate diagnosis. A 14-year-old female patient presented with acute retention of urine and abdominopelvic pain. Her condition was diagnosed with the use ultrasonography and magnetic resonance imaging as a case of HWW syndrome. She was treated with vaginal hemiseptal resection. The HWW syndrome should be considered among the differential diagnoses in girls with renal anomalies presenting with pelvic mass, symptoms of acute abdominal pain, and acute urinary retention. PMID:24378860

  20. Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype

    DEFF Research Database (Denmark)

    Grønskov, Karen; Diness, Birgitte; Stahlhut, Michelle; Zilmer, Monica; Tümer, Zeynep; Bisgaard, Anne-Marie; Brøndum-Nielsen, Karen

    2014-01-01

    A common in frame duplication in ARX (c.431_454dup24) was found in a five year-old boy who presented with mild Partington syndrome. The duplication was detected by PCR amplification followed by fragment length analysis and was located in exon 2 spanning the two polyalanine tracts commonly seen to...... Partington syndrome. This patient is the first male reported to be mosaic for the duplication, and his clinical features are subtle. This study shows that in males with a phenotype of mild Partington syndrome and in heterozygous females fragment length analysis should be preferred over DNA sequencing....

  1. De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.

    Science.gov (United States)

    Langlois, Sylvie; Tarailo-Graovac, Maja; Sayson, Bryan; Drögemöller, Britt; Swenerton, Anne; Ross, Colin Jd; Wasserman, Wyeth W; van Karnebeek, Clara Dm

    2016-06-01

    PEHO syndrome (OMIM no. 260565) is characterized by myoclonic jerking and infantile spasms, profound psychomotor retardation with the absence of motor milestones and speech, absence or early loss of visual fixation with atrophy of optic discs by 2 years of age and progressive brain atrophy on neuroimaging. We describe the results of a genomic study of a girl with PEHO syndrome and review the literature on cases with a disease-causing variant in the same gene. Exome sequencing of the index and unaffected parents followed by Sanger confirmation identified nine candidate genes harboring nonsynonymous rare variants identified by trio whole-exome sequencing. The de novo variant, a missense variant (c.296C>T, p.(T99M)), affecting the motor domain of KIF1A was considered the pathogenic mutation. The literature review revealed 24 cases with disease-causing variants in the motor domain of KIF1A, of which three met all the criteria for PEHO syndrome and an additional patient with incomplete clinical data met four of the five criteria. If the criteria were modified to include cases with any convulsive disorder and less profound intellectual disability, a total of six patients met all five of the criteria, three patients met four of the criteria and six met three of the criteria. Our results indicate that the molecular basis for PEHO syndrome, in at least a subset of patients, is a dominant KIF1A variant affecting the motor domain of the protein. Variable expressivity is seen with recurrent variants causing the full phenotype of PEHO syndrome in some patients and in other patients, a partial or milder PEHO phenotype. PMID:26486474

  2. Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing

    Science.gov (United States)

    Merico, Daniele; Roifman, Maian; Braunschweig, Ulrich; Yuen, Ryan K. C.; Alexandrova, Roumiana; Bates, Andrea; Reid, Brenda; Nalpathamkalam, Thomas; Wang, Zhuozhi; Thiruvahindrapuram, Bhooma; Gray, Paul; Kakakios, Alyson; Peake, Jane; Hogarth, Stephanie; Manson, David; Buncic, Raymond; Pereira, Sergio L.; Herbrick, Jo-Anne; Blencowe, Benjamin J.; Roifman, Chaim M.; Scherer, Stephen W.

    2015-01-01

    Roifman Syndrome is a rare congenital disorder characterized by growth retardation, cognitive delay, spondyloepiphyseal dysplasia and antibody deficiency. Here we utilize whole-genome sequencing of Roifman Syndrome patients to reveal compound heterozygous rare variants that disrupt highly conserved positions of the RNU4ATAC small nuclear RNA gene, a minor spliceosome component that is essential for minor intron splicing. Targeted sequencing confirms allele segregation in six cases from four unrelated families. RNU4ATAC rare variants have been recently reported to cause microcephalic osteodysplastic primordial dwarfism, type I (MOPD1), whose phenotype is distinct from Roifman Syndrome. Strikingly, all six of the Roifman Syndrome cases have one variant that overlaps MOPD1-implicated structural elements, while the other variant overlaps a highly conserved structural element not previously implicated in disease. RNA-seq analysis confirms extensive and specific defects of minor intron splicing. Available allele frequency data suggest that recessive genetic disorders caused by RNU4ATAC rare variants may be more prevalent than previously reported. PMID:26522830

  3. A comprehensive review on experimental and clinical findings in intermediate syndrome caused by organophosphate poisoning

    International Nuclear Information System (INIS)

    Acute organophosphate (OP) intoxication is important because of its high morbidity and mortality and occurrence of muscular paralysis associated by inhibition of acetylcholinesterase (AChE) activity at the neuromuscular junction. Cholinergic crisis, intermediate syndrome (IMS), and OP-induced delayed neuropathy (OPIDN) are the evidences that can be observed in OP intoxication. The main cause of morbidity due to OP poisoning is IMS that occurs 24–96 h after poisoning. Mechanisms underlying the IMS are not fully known. Although the electrophysiological aspects of delayed neuropathy are best characterized, the IMS remain very little studied. The aim of this study was to revisit current knowledge related to OP and the IMS. For this purpose, a systematic review without date limitation was performed. A total of 599 relevant articles were found and reviewed. Data were categorized according to experimental and clinical studies. Occurrences of persistent AChE inhibition, electromyography changes, muscle cell injury, and oxidative stress are the most important pieces of evidence for involvement of IMS in OP toxicity. Delayed AChE inhibition, muscle necrosis, down regulation or desensitization of postsynaptic ACh receptors, failure of postsynaptic ACh release, and oxidative stress-related myopathy are involved in IMS. Toxicokinetic factors, such as a high lipid-solubility, duration of AChE inhibition and metabolite excretion, evolution of alterations on repetitive nerve stimulation (RNS), type and frequency of muscle lesions can estimate the probability of the IMS. Plasma AChE of less than 200 units is a predictor and the 30 Hz RNS decremental response could be a useful marker for the IMS.

  4. A comprehensive review on experimental and clinical findings in intermediate syndrome caused by organophosphate poisoning

    Energy Technology Data Exchange (ETDEWEB)

    Abdollahi, Mohammad, E-mail: mohammad.abdollahi@utoronto.ca; Karami-Mohajeri, Somayyeh

    2012-02-01

    Acute organophosphate (OP) intoxication is important because of its high morbidity and mortality and occurrence of muscular paralysis associated by inhibition of acetylcholinesterase (AChE) activity at the neuromuscular junction. Cholinergic crisis, intermediate syndrome (IMS), and OP-induced delayed neuropathy (OPIDN) are the evidences that can be observed in OP intoxication. The main cause of morbidity due to OP poisoning is IMS that occurs 24–96 h after poisoning. Mechanisms underlying the IMS are not fully known. Although the electrophysiological aspects of delayed neuropathy are best characterized, the IMS remain very little studied. The aim of this study was to revisit current knowledge related to OP and the IMS. For this purpose, a systematic review without date limitation was performed. A total of 599 relevant articles were found and reviewed. Data were categorized according to experimental and clinical studies. Occurrences of persistent AChE inhibition, electromyography changes, muscle cell injury, and oxidative stress are the most important pieces of evidence for involvement of IMS in OP toxicity. Delayed AChE inhibition, muscle necrosis, down regulation or desensitization of postsynaptic ACh receptors, failure of postsynaptic ACh release, and oxidative stress-related myopathy are involved in IMS. Toxicokinetic factors, such as a high lipid-solubility, duration of AChE inhibition and metabolite excretion, evolution of alterations on repetitive nerve stimulation (RNS), type and frequency of muscle lesions can estimate the probability of the IMS. Plasma AChE of less than 200 units is a predictor and the 30 Hz RNS decremental response could be a useful marker for the IMS.

  5. Feasibility of radiation dose range capable to cause subacute course of radiation syndrome

    Directory of Open Access Journals (Sweden)

    Krasnyuk V.I.

    2013-12-01

    Full Text Available There had been analysed cases of radiation syndrome which clinical picture takes an intermediate place between the acute radiation syndrome (ARS and the chronic radiation syndrome (CRS, and differs from them because of a subacute. This variant of disease can develop as a result of the fractioned or prolonged radiation lasting from several days to several weeks. Development of primary reaction took place only in the extremely hard cases which ends with an early fatality. After the general radiation the marrow failure was characterized by directly expressed formation and restoration period, specific features of which were defined by the radiation duration, a total dose and dose derivative. The most typical outcomes of a subacute radiation syndrome are death from infectious complications in the period of an eruptive phase or leukosis development in the remote period.

  6. HOXA1 mutations are not a common cause of Möbius syndrome

    OpenAIRE

    Rankin, Jessica K.; Andrews, Caroline; Chan, Wai-man; Engle, Elizabeth C

    2010-01-01

    The HOXA1-related syndromes result from autosomal recessive truncating mutations in the homeobox transcription factor, HOXA1. Limited horizontal gaze and sensorineural deafness are the most common features; affected individuals can also have facial weakness, mental retardation, autism, motor disabilities, central hypoventilation, carotid artery and/or conotruncal heart defects. Möbius syndrome is also phenotypically heterogeneous, with minimal diagnostic criteria of nonprogressive facial weak...

  7. KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function

    OpenAIRE

    Reichold, Markus; Zdebik, Anselm A.; Lieberer, Evelyn; Rapedius, Markus; Schmidt, Katharina; Bandulik, Sascha; Sterner, Christina; Tegtmeier, Ines; Penton, David; Baukrowitz, Thomas; Hulton, Sally-Anne; Witzgall, Ralph; Ben-Zeev, Bruria; Howie, Alexander J.; Kleta, Robert

    2010-01-01

    Mutations of the KCNJ10 (Kir4.1) K+ channel underlie autosomal recessive epilepsy, ataxia, sensorineural deafness, and (a salt-wasting) renal tubulopathy (EAST) syndrome. We investigated the localization of KCNJ10 and the homologous KCNJ16 in kidney and the functional consequences of KCNJ10 mutations found in our patients with EAST syndrome. Kcnj10 and Kcnj16 were found in the basolateral membrane of mouse distal convoluted tubules, connecting tubules, and cortical collecting ducts. In the hu...

  8. Endoscopically assisted resection of a scapular osteochondroma causing snapping scapula syndrome

    OpenAIRE

    Futani Hiroyuki; Fukunaga Satoru; Yoshiya Shinichi

    2007-01-01

    Abstract Background Osteochondroma is the most common benign bone tumor in the scapula. This condition might lead to snapping scapula syndrome, which is characterized by painful, audible, and/or palpable abnormal scapulothoracic motion. In the present case, this syndrome was successfully treated by use of endoscopically assisted resection of the osteochondroma. Case presentation A 41-year-old man had a tolerable pain in his scapular region over a 10 years' period. The pain developed gradually...

  9. Burning mouth syndrome in Parkinson’s disease: dopamine as cure or cause?

    OpenAIRE

    Coon, Elizabeth A.; Laughlin, Ruple S.

    2012-01-01

    Burning mouth syndrome has been reported as being more common in Parkinson’s disease patients than the general population. While the pathophysiology is unclear, decreased dopamine levels and dopamine dysregulation are hypothesized to play a role. We report a patient with Parkinson’s disease who developed burning mouth syndrome with carbidopa/levodopa. Our patient had resolution of burning mouth symptoms when carbidopa/levodopa was replaced with a dopamine agonist. Based on our patient’s clini...

  10. A new mutation causing autosomal dominant periodic fever syndrome in a Danish family

    DEFF Research Database (Denmark)

    Weyhreter, Heike; Schwartz, Marianne; Kristensen, Tim D; Valerius, Niels Henrik; Pærregaard, Anders

    2003-01-01

    We describe four members in a family of 8 individuals over 3 generations with the autosomal dominant inherited periodic fever syndrome tumor necrosis factor receptor-associated periodic syndrome (TRAPS). The patients had recurrent episodes of fever, abdominal pain, arthritis, and rash. We examine...... to be healthy nor in 50 normal control patients. The youngest member of the family, a 2-year-old boy, was treated successfully with etanercept....

  11. Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome

    Directory of Open Access Journals (Sweden)

    Buchanan DD

    2014-10-01

    Full Text Available Daniel D Buchanan,1,2 Christophe Rosty,1,3,4 Mark Clendenning,1 Amanda B Spurdle,5 Aung Ko Win2 1Oncogenomics Group, Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Parkville, VIC, Australia; 2Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, Australia; 3Envoi Specialist Pathologists, Herston, QLD, Australia; 4School of Medicine, University of Queensland, Herston, QLD, Australia; 5Molecular Cancer Epidemiology Laboratory, Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, Herston, QLD, AustraliaAbstract: Carriers of a germline mutation in one of the DNA mismatch repair (MMR genes have a high risk of developing numerous different cancers, predominantly colorectal cancer and endometrial cancer (known as Lynch syndrome. MMR gene mutation carriers develop tumors with MMR deficiency identified by tumor microsatellite instability or immunohistochemical loss of MMR protein expression. Tumor MMR deficiency is used to identify individuals most likely to carry an MMR gene mutation. However, MMR deficiency can also result from somatic inactivation, most commonly methylation of the MLH1 gene promoter. As tumor MMR testing of all incident colorectal and endometrial cancers (universal screening is becoming increasingly adopted, a growing clinical problem is emerging for individuals who have tumors that show MMR deficiency who are subsequently found not to carry an MMR gene mutation after genetic testing using the current diagnostic approaches (Sanger sequencing and multiplex ligation-dependent probe amplification and who also show no evidence of MLH1 methylation. The inability to determine the underlying cause of tumor MMR deficiency in these "Lynch-like" or "suspected Lynch syndrome" cases has significant implications on the clinical management of these individuals and their relatives. When the

  12. Organic dust toxic syndrome at a grass seed plant caused by exposure to high concentrations of bioaerosols

    OpenAIRE

    Madsen, Anne M.; Tendal, Kira; Schlünssen, Vivi; Heltberg, Ivar

    2012-01-01

    We describe an outbreak of sudden health problems in workers at a Danish grass seed plant after exposure to a particularly dusty lot of grass seeds. The seeds are called problematic seeds. The association between development of organic dust toxic syndrome (ODTS) and the handling of grass seeds causing exposure was assessed in a four-step model: (i) identification of exposure source, (ii) characterization of the emission of bioaerosols from the problematic and reference seeds, (iii) personal a...

  13. Confirmation of Choclo Virus as the Cause of Hantavirus Cardiopulmonary Syndrome and high serum antibody prevalence in Panama

    OpenAIRE

    Nelson, Randin; Cañate, Raul; Pascale, Juan Miguel; Dragoo, Jerry W.; Armien, Blas; Armien, Anibal G.; Koster, Frederick

    2010-01-01

    Choclo virus (CHOV) was described in sigmodontine rodents, Oligoryzomys fulvescens, and humans during an outbreak of hantavirus cardiopulmonary syndrome (HCPS) in 1999 to 2000 in western Panama. Although HCPS is rare, hantavirus-specific serum antibody prevalence among the general population is high suggesting that CHOV may cause many mild or asymptomatic infections. The goals of this study were to confirm the role of CHOV in HCPS and in the frequently detected serum antibody and to establish...

  14. Superficial cerebral and spinal haemosiderosis caused by secondary tethered cord syndrome after resection of a spinal lymphoma

    OpenAIRE

    Zingler, Vera C.; Grau, Stefan; Tonn, Jörg-Christian; Jahn, Klaus; Linn, Jennifer; Brandt, Thomas; Strupp, Michael

    2007-01-01

    Superficial haemosiderosis results from chronic subarachnoid haemorrhage during which haemosiderin is deposited in the leptomeninges around the brain, spinal cord and cranial nerves. We describe an exceptional case of superficial haemosiderosis characterised by two special aspects. (1) The cause was a secondary tethered cord syndrome due to dural adhesions which had developed 8 years after resection of a thoracic lymphoma and (2) an explorative neurosurgical procedure with complete untetherin...

  15. Quantitative and Sensitive Detection of GNAS Mutations Causing McCune-Albright Syndrome with Next Generation Sequencing

    OpenAIRE

    Satoshi Narumi; Kumihiro Matsuo; Tomohiro Ishii; Yusuke Tanahashi; Tomonobu Hasegawa

    2013-01-01

    Somatic activating GNAS mutations cause McCune-Albright syndrome (MAS). Owing to low mutation abundance, mutant-specific enrichment procedures, such as the peptide nucleic acid (PNA) method, are required to detect mutations in peripheral blood. Next generation sequencing (NGS) can analyze millions of PCR amplicons independently, thus it is expected to detect low-abundance GNAS mutations quantitatively. In the present study, we aimed to develop an NGS-based method to detect low-abundance somat...

  16. Papular-purpuric "gloves and socks" syndrome caused by parvovirus B19 infection in Brazil: a case report

    OpenAIRE

    Marcos Tadashi Kakitani Toyoshima; Lilian Walsh Keller; Maria Luisa Barbosa; Edison Luiz Durigon

    2006-01-01

    Papular-purpuric "gloves and socks" syndrome (PPGSS) is a novel, rare, self-limiting dermatosis caused by human parvovirus B19. It consists of pruritic edema and erythema of the hands and feet in a gloves-and-socks distribution, and it is associated with oral lesions and fever. We present a case of PPGSS in a 22-year-old Brazilian woman. Clinical and laboratory evaluation, including serological tests, PCR and gene sequencing, confirmed the presence of human parvovirus B19.

  17. Epidermal expression of the truncated prelamin A causing Hutchinson–Gilford progeria syndrome: effects on keratinocytes, hair and skin

    OpenAIRE

    Wang, Yuexia; Panteleyev, Andrey A.; Owens, David M.; Djabali, Karima; Stewart, Colin L.; Worman, Howard J.

    2008-01-01

    Hutchinson–Gilford progeria syndrome (HGPS) is an accelerated aging disorder caused by point mutation in LMNA encoding A-type nuclear lamins. The mutations in LMNA activate a cryptic splice donor site, resulting in expression of a truncated, prenylated prelamin A called progerin. Expression of progerin leads to alterations in nuclear morphology, which may underlie pathology in HGPS. We generated transgenic mice expressing progerin in epidermis under control of a keratin 14 promoter. The mice ...

  18. Emergence of Streptococcus pyogenes emm102 Causing Toxic Shock Syndrome in Southern Taiwan during 2005–2012

    OpenAIRE

    Lin, Jiun-Nong; Chang, Lin-Li; Lai, Chung-Hsu; Lin, Hsi-Hsun; Chen, Yen-Hsu

    2013-01-01

    Background Streptococcal toxic shock syndrome (STSS) is an uncommon but life-threatening disease caused by Streptococcus pyogenes. Methods To understand the clinical and molecular characteristics of STSS, we analyzed clinical data and explored the emm types, superantigen genes, and pulsed-field gel electrophoresis of causative S. pyogenes isolates obtained between 2005 and 2012. Results In total, 53 patients with STSS were included in this study. The median age of the patients was 57 years (r...

  19. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

    OpenAIRE

    Willer, Tobias; Lee, Hane; Lommel, Mark; Yoshida-Moriguchi, Takako; de Bernabe, Daniel Beltran Valero; Venzke, David; Cirak, Sebahattin; Schachter, Harry; Vajsar, Jiri; Voit, Thomas; Muntoni, Francesco; Loder, Andrea S.; Dobyns, William B.; Winder, Thomas L.; Strahl, Sabine

    2012-01-01

    Walker-Warburg syndrome (WWS) is clinically defined as congenital muscular dystrophy accompanied by a variety of brain and eye malformations. It represents the most severe clinical phenotype in a spectrum of alpha-dystroglycan posttranslational processing abnormalities, which share a defect in laminin binding glycan synthesis 1 . Although six WWS causing genes have been described, only half of all patients can currently be diagnosed genetically 2 . A cell fusion complementation assay using fi...

  20. Vascular-type Ehlers-Danlos syndrome caused by a hitherto unknown genetic mutation: a case report

    Directory of Open Access Journals (Sweden)

    Kashizaki Fumihiro

    2013-02-01

    Full Text Available Abstract Introduction Vascular-type Ehlers-Danlos syndrome is an autosomal dominant disease that causes arterial spurting, intestinal perforation, uterine rupture and hemopneumothorax due to decreased production of type III collagen. The average age at death is 48 years old, and it is considered to be the most severe form of Ehlers-Danlos syndrome. We report the case of a 64-year-old Japanese woman and her 38-year-old daughter who were diagnosed with this disease. Case presentation A 64-year-old Japanese woman was referred to our hospital because of right anterior chest pain following cough and pharyngeal discomfort. Pleurisy was suspected due to the presence of right pleural effusion, so the next day she was referred to our department, where a detailed examination led to the diagnosis of hemothorax. The bleeding that caused the right hemothorax was difficult to control, so our patient was transferred to the Department of Thoracic Surgery for hemostasis control. Our patient’s personal history of uterine hemorrhage and skin ulcers, as well as the finding of skin fragility during surgery, were indicative of a weak connective tissue disease; therefore, after improvement of the hemothorax, a genetic analysis was performed. This revealed a heterozygous missense mutation in COL3A1, c.2411 G>T p.Gly804Val (exon 36. A detailed investigation conducted at a later date revealed that her daughter also had the same genetic mutation. This led to the diagnosis of vascular-type Ehlers-Danlos syndrome characterized by a new gene mutation. Conclusion We report a new genetic mutation associated with vascular-type Ehlers-Danlos syndrome. We present the clinical and imaging findings, and the disease and treatment course in this patient. We believe this information will be important in treating future cases of vascular-type Ehlers-Danlos syndrome in patients with this mutation.

  1. Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

    Science.gov (United States)

    Bertoli-Avella, Aida M.; Gillis, Elisabeth; Morisaki, Hiroko; Verhagen, Judith M.A.; de Graaf, Bianca M.; van de Beek, Gerarda; Gallo, Elena; Kruithof, Boudewijn P.T.; Venselaar, Hanka; Myers, Loretha A.; Laga, Steven; Doyle, Alexander J.; Oswald, Gretchen; van Cappellen, Gert W.A.; Yamanaka, Itaru; van der Helm, Robert M.; Beverloo, Berna; de Klein, Annelies; Pardo, Luba; Lammens, Martin; Evers, Christina; Devriendt, Koenraad; Dumoulein, Michiel; Timmermans, Janneke; Bruggenwirth, Hennie T.; Verheijen, Frans; Rodrigus, Inez; Baynam, Gareth; Kempers, Marlies; Saenen, Johan; Van Craenenbroeck, Emeline M.; Minatoya, Kenji; Matsukawa, Ritsu; Tsukube, Takuro; Kubo, Noriaki; Hofstra, Robert; Goumans, Marie Jose; Bekkers, Jos A.; Roos-Hesselink, Jolien W.; van de Laar, Ingrid M.B.H.; Dietz, Harry C.; Van Laer, Lut; Morisaki, Takayuki; Wessels, Marja W.; Loeys, Bart L.

    2015-01-01

    Background Aneurysms affecting the aorta are a common condition associated with high mortality as a result of aortic dissection or rupture. Investigations of the pathogenic mechanisms involved in syndromic types of thoracic aortic aneurysms, such as Marfan and Loeys-Dietz syndromes, have revealed an important contribution of disturbed transforming growth factor (TGF)-β signaling. Objectives This study sought to discover a novel gene causing syndromic aortic aneurysms in order to unravel the underlying pathogenesis. Methods We combined genome-wide linkage analysis, exome sequencing, and candidate gene Sanger sequencing in a total of 470 index cases with thoracic aortic aneurysms. Extensive cardiological examination, including physical examination, electrocardiography, and transthoracic echocardiography was performed. In adults, imaging of the entire aorta using computed tomography or magnetic resonance imaging was done. Results Here, we report on 43 patients from 11 families with syndromic presentations of aortic aneurysms caused by TGFB3 mutations. We demonstrate that TGFB3 mutations are associated with significant cardiovascular involvement, including thoracic/abdominal aortic aneurysm and dissection, and mitral valve disease. Other systemic features overlap clinically with Loeys-Dietz, Shprintzen-Goldberg, and Marfan syndromes, including cleft palate, bifid uvula, skeletal overgrowth, cervical spine instability and clubfoot deformity. In line with previous observations in aortic wall tissues of patients with mutations in effectors of TGF-β signaling (TGFBR1/2, SMAD3, and TGFB2), we confirm a paradoxical up-regulation of both canonical and noncanonical TGF-β signaling in association with up-regulation of the expression of TGF-β ligands. Conclusions Our findings emphasize the broad clinical variability associated with TGFB3 mutations and highlight the importance of early recognition of the disease because of high cardiovascular risk. PMID:25835445

  2. A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome

    DEFF Research Database (Denmark)

    Clendenning, Mark; Senter, Leigha; Hampel, Heather; Robinson, Kristina Lagerstedt; Sun, Shuying; Buchanan, Daniel; Walsh, Michael D; Nilbert, Mef; Green, Jane S; Potter, John; Lindblom, Annika; de la Chapelle, Albert

    2008-01-01

    caused by PMS2. This disparity is primarily due to complications in the study of this gene caused by interference from pseudogene sequences. METHODS: Using a recently developed method for detecting PMS2 specific mutations, we have screened 99 patients who are likely candidates for PMS2 mutations based on...... Swedish ancestry. We estimate that there are >10,000 carriers of this mutation in the United States alone. The identification of both the mutation and the common haplotype in one Swedish control sample (n = 225), along with evidence that Lynch syndrome associated cancers are rarer than expected in the...

  3. Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes

    Science.gov (United States)

    May, Patrick; Thiele, Holger; Lehesjoki, Anna-Elina; Schwarz, Günter; Riesch, Erik; Ikram, M. Arfan; van Duijn, Cornelia M.; Uitterlinden, Andre G.; Hofman, Albert; Steinböck, Hannelore; Gruber-Sedlmayr, Ursula; Neophytou, Birgit; Zara, Federico; Hahn, Andreas; Gormley, Padhraig; Becker, Felicitas; Weber, Yvonne G.; Cilio, Maria Roberta; Kunz, Wolfram S.; Krause, Roland; Zimprich, Fritz; Lemke, Johannes R.; Nürnberg, Peter; Sander, Thomas; Lerche, Holger; Neubauer, Bernd A.

    2016-01-01

    Objective The SCN1A gene, coding for the voltage-gated Na+ channel alpha subunit NaV1.1, is the clinically most relevant epilepsy gene. With the advent of high-throughput next-generation sequencing, clinical laboratories are generating an ever-increasing catalogue of SCN1A variants. Variants are more likely to be classified as pathogenic if they have already been identified previously in a patient with epilepsy. Here, we critically re-evaluate the pathogenicity of this class of variants in a cohort of patients with common epilepsy syndromes and subsequently ask whether a significant fraction of benign variants have been misclassified as pathogenic. Methods We screened a discovery cohort of 448 patients with a broad range of common genetic epilepsies and 734 controls for previously reported SCN1A mutations that were assumed to be disease causing. We re-evaluated the evidence for pathogenicity of the identified variants using in silico predictions, segregation, original reports, available functional data and assessment of allele frequencies in healthy individuals as well as in a follow up cohort of 777 patients. Results and Interpretation We identified 8 known missense mutations, previously reported as pathogenic, in a total of 17 unrelated epilepsy patients (17/448; 3.80%). Our re-evaluation indicates that 7 out of these 8 variants (p.R27T; p.R28C; p.R542Q; p.R604H; p.T1250M; p.E1308D; p.R1928G; NP_001159435.1) are not pathogenic. Only the p.T1174S mutation may be considered as a genetic risk factor for epilepsy of small effect size based on the enrichment in patients (P = 6.60 x 10−4; OR = 0.32, fishers exact test), previous functional studies but incomplete penetrance. Thus, incorporation of previous studies in genetic counseling of SCN1A sequencing results is challenging and may produce incorrect conclusions. PMID:26990884

  4. Hypothalamic versus pituitary dysfunction in Down's syndrome as cause of growth retardation.

    Science.gov (United States)

    Castells, S; Beaulieu, I; Torrado, C; Wisniewski, K E; Zarny, S; Gelato, M C

    1996-12-01

    We have found that some children with Down's syndrome (DS) have growth retardation secondary to growth hormone (GH) deficiency. To test the hypothesis that hypothalamic dysfunction is the primary cause for GH deficiency and growth retardation, hypothalamic-pituitary responses of serum GH concentrations to levodopa and clonidine as well as pituitary responses in serum GH concentrations to growth-hormone-releasing hormone (GHRH) were analysed in 14 prepubertal children with DS. Levodopa and clonidine were given, and blood was drawn for determining serum GH levels. Seven prepubertal control children had both levodopa and clonidine tests done. The delta serum GH during levodopa was 5.7 +/- 6.3 ng ml-1 in DS and 13.1 +/- 9.8 ng ml-1 in controls. The delta serum GH during clonidine administration was 3.0 +/- 3.2 ng ml-1 in DS and 17.3 +/- 5.6 ng ml-1 in controls. Children with DS had a significantly lower response to levodopa and clonidine, compared with controls by the Mann-Whitney U-test (P < 0.03 and P < 0.009, respectively). Growth-hormone-releasing hormone was given at 1 microgram kg-1 i.v. bolus and bloods for GH were drawn at-15, 0, 15, 30, 60, 90 and 120 min in 14 subjects with DS and 24 normal controls, both groups prepubertal. The mean delta serum GH concentration in DS was 53.6 +/- 38.3 ng ml-1, and it was 35.6 +/- 25.1 ng ml-1 in controls with P < 0.23 non-significant by the Mann-Whitney U-test. These results indicate that levodopa and clonidine (drugs stimulating hypothalamic GHRH release and secondary pituitary GH release in normal individuals) do not stimulate GH release in DS. Furthermore, normal GH response to GHRH in DS indicates normal pituitary function (normal somatotroph response to GHRH) and supports hypothalamic dysfunction in DS. PMID:9004111

  5. A thymic neuroendocrine tumour in a young female: a rare cause of relapsing and remitting Cushing’s syndrome

    Directory of Open Access Journals (Sweden)

    M J Trott

    2016-05-01

    Full Text Available We present a case of a young female patient with a rare cause of relapsing and remitting Cushing’s syndrome due to ectopic ACTH secretion from a thymic neuroendocrine tumour. A 34-year-old female presented with a constellation of symptoms of Cushing’s syndrome, including facial swelling, muscle weakness and cognitive impairment. We use the terms ‘relapsing and remitting’ in this case report, given the unpredictable time course of symptoms, which led to a delay of 2 years before the correct diagnosis of hypercortisolaemia. Diagnostic workup confirmed ectopic ACTH secretion, and a thymic mass was seen on mediastinal imaging. The patient subsequently underwent thymectomy with complete resolution of her symptoms. Several case series have documented the association of Cushing’s syndrome with thymic neuroendocrine tumours (NETs, although to our knowledge there are a few published cases of patients with relapsing and remitting symptoms. This case is also notable for the absence of features of the MEN-1 syndrome, along with the female gender of our patient and her history of non-smoking.

  6. Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.

    Directory of Open Access Journals (Sweden)

    Margot E Bowen

    2011-04-01

    Full Text Available Metachondromatosis (MC is a rare, autosomal dominant, incompletely penetrant combined exostosis and enchondromatosis tumor syndrome. MC is clinically distinct from other multiple exostosis or multiple enchondromatosis syndromes and is unlinked to EXT1 and EXT2, the genes responsible for autosomal dominant multiple osteochondromas (MO. To identify a gene for MC, we performed linkage analysis with high-density SNP arrays in a single family, used a targeted array to capture exons and promoter sequences from the linked interval in 16 participants from 11 MC families, and sequenced the captured DNA using high-throughput parallel sequencing technologies. DNA capture and parallel sequencing identified heterozygous putative loss-of-function mutations in PTPN11 in 4 of the 11 families. Sanger sequence analysis of PTPN11 coding regions in a total of 17 MC families identified mutations in 10 of them (5 frameshift, 2 nonsense, and 3 splice-site mutations. Copy number analysis of sequencing reads from a second targeted capture that included the entire PTPN11 gene identified an additional family with a 15 kb deletion spanning exon 7 of PTPN11. Microdissected MC lesions from two patients with PTPN11 mutations demonstrated loss-of-heterozygosity for the wild-type allele. We next sequenced PTPN11 in DNA samples from 54 patients with the multiple enchondromatosis disorders Ollier disease or Maffucci syndrome, but found no coding sequence PTPN11 mutations. We conclude that heterozygous loss-of-function mutations in PTPN11 are a frequent cause of MC, that lesions in patients with MC appear to arise following a "second hit," that MC may be locus heterogeneous since 1 familial and 5 sporadically occurring cases lacked obvious disease-causing PTPN11 mutations, and that PTPN11 mutations are not a common cause of Ollier disease or Maffucci syndrome.

  7. A genetic and molecular update on adrenocortical causes of Cushing syndrome.

    Science.gov (United States)

    Lodish, Maya; Stratakis, Constantine A

    2016-05-01

    Primary adrenal Cushing syndrome is the result of cortisol hypersecretion mainly by adenomas and, rarely, by bilateral micronodular or macronodular adrenocortical hyperplasia. cAMP-dependent protein kinase A (PKA) signalling is the major activator of cortisol secretion in the adrenal cortex. Many adenomas and hyperplasias associated with primary hypercortisolism carry somatic or germline mutations in genes that encode constituents of the cAMP-PKA pathway. In this Review, we discuss Cushing syndrome and its linkage to dysregulated cAMP-PKA signalling, with a focus on genetic findings in the past few years. In addition, we discuss the presence of germline inactivating mutations in ARMC5 in patients with primary bilateral macronodular adrenocortical hyperplasia. This finding has implications for genetic counselling of affected patients; hitherto, most patients with this form of adrenal hyperplasia and Cushing syndrome were thought to have a sporadic and not a familial disorder. PMID:26965378

  8. An unusual cause of recurrent spontaneous pneumothorax: the Mounier-Kuhn syndrome.

    Science.gov (United States)

    Unlu, Elif Nisa; Annakkaya, Ali Nihat; Balbay, Ege Gulec; Aydın, Leyla Yilmaz; Safcı, Sinem; Boran, Mertay; Guclu, Derya

    2016-01-01

    We present a case of 63-year-old man who was referred to the emergency department with a right-sided pneumothorax. He had a history of spontaneous pneumothorax for 2 times. The chest computed tomographic scan showed tracheobronchomegaly with an increase in the diameter of the trachea and right and left main bronchus. Fiberoptic bronchoscopy revealed enlarged trachea and both main bronchus with diverticulas. These findings are consistent with a diagnosis of Mounier-Kuhn syndrome. Mounier-Kuhn syndrome is a rare clinical and radiologic condition. It is characterized by a tracheal and bronchial dilation. Diagnosis is made by computed tomography and bronchoscopy. Mounier-Kuhn syndrome should be kept in mind in the differential diagnosis of recurrent spontaneous pneumothorax. PMID:26127019

  9. An unusual cause of spontaneous pneumothorax: the Mounier-Kuhn syndrome.

    LENUS (Irish Health Repository)

    Kent, B D

    2011-05-01

    We present the case of a 54-year old woman referred to our service with an unusual presentation of an under-diagnosed condition. A life-long non-smoker, she was referred to respiratory services by our emergency department with a left sided pneumothorax, progressive dyspnoea on exertion, and recurrent chest infections. Subsequent investigation yielded findings consistent with Mounier-Kuhn syndrome (Tracheobronchomegaly), a condition characterised by marked dilatation of the proximal airways, recurrent chest infection, and consequent emphysema and bronchiectasis. Although rarely diagnosed, some degree of Mounier-Kuhn syndrome may occur in up to 1 in 500 adults.

  10. Loss-of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome

    OpenAIRE

    Pang, Junfeng; Zhang, Shu; Yang, Ping; Hawkins-Lee, Bobbilynn; Zhong, Jixin; Zhang, Yushan; Ochoa, Bernardo; Agundez, Jose A.G.; Voelckel, Marie-Antoinette; Fisher, Richard B; Gu, Weikuan; Xiong, Wen-Cheng; Mei, Lin; She, Jin-Xiong; Wang, Cong-Yi

    2010-01-01

    Previously, we localized the defective gene for the urofacial syndrome (UFS) to a region on chromosome 10q24 by homozygosity mapping. We now report evidence that Heparanse 2 (HPSE2) is the culprit gene for the syndrome. Mutations with a loss of function in the Heparanase 2 (HPSE2) gene were identified in all UFS patients originating from Colombia, the United States, and France. HPSE2 encodes a 592 aa protein that contains a domain showing sequence homology to the glycosyl hydrolase motif in t...

  11. An unusual cause of spontaneous pneumothorax: the Mounier-Kuhn syndrome.

    LENUS (Irish Health Repository)

    Kent, B D

    2012-02-01

    We present the case of a 54-year old woman referred to our service with an unusual presentation of an under-diagnosed condition. A life-long non-smoker, she was referred to respiratory services by our emergency department with a left sided pneumothorax, progressive dyspnoea on exertion, and recurrent chest infections. Subsequent investigation yielded findings consistent with Mounier-Kuhn syndrome (Tracheobronchomegaly), a condition characterised by marked dilatation of the proximal airways, recurrent chest infection, and consequent emphysema and bronchiectasis. Although rarely diagnosed, some degree of Mounier-Kuhn syndrome may occur in up to 1 in 500 adults.

  12. Edward’s syndrome: A rare cause of difficult intubation-utility of left molar approach

    Directory of Open Access Journals (Sweden)

    Teena Bansal

    2016-04-01

    Full Text Available Edward’s syndrome (trisomy 18 is an autosomal abnormality with dysmorphic face, visceral deformities and delayed mental and motor development including congenital heart disease. Challenges may arise during mask ventilation, laryngoscopy and/or intubation of the trachea due to dysmorphic face. Difficult airway cart should be kept ready. Left molar approach using a standard Macintosh blade improves the laryngoscopic view in patients with difficult midline laryngoscopy. We hereby present a case report of a 2 year old male child with Edward’s syndrome posted for evacuation and drainage of brain abscess, intubated successfully using left molar approach.

  13. A cholestatic syndrome may be a surprising cause of medical error

    Directory of Open Access Journals (Sweden)

    M. Pătrășescu

    2015-04-01

    Full Text Available Autoimmune cholangitis defines a spectrum of cholestatic liver diseases that are characterized by inflammation of bile ducts and a reasonable response to immunosuppressive therapy. The two most common diseases associated with this term in the literature are: an overlap syndrome of primary biliary cirrhosis and autoimmune hepatitis and a form of hyper IgG4 syndrome (currently associated with autoimmune pancreatitis. Liver biopsy is mandatory for the diagnosis. There are, whatsoever, in clinical practice, many cases that do not meet current diagnostic criteria but that have a good response to corticosteroid treatment.

  14. De novo mutations in Plxnd1 and Rev3l cause mobius syndrome

    OpenAIRE

    Kayserili Karabey, Hülya; Tomas-Roca, Laura; Tsaalbi-Shtylik, Anastasia; Jansen, Jacob G.; Singh, Manvendra K.; Epstein, Jonathan A.; Altunoglu, Umut; Verzijl, Harriette; Soria, Laura; van Beusekom, Ellen; Roscioli, Tony; Iqbal, Zafar; Gilissen, Christian; Hoischen, Alexander; de Brouwer,Arjan P. M.; Erasmus, Corrie; Schubert, Dirk; Brunner, Han; Aytes, Antonio Perez; Marin, Faustino; Aroca, Pilar; Carta, Arturo; de Wind, Niels; Padberg, George W.; van Bokhoven, Hans

    2015-01-01

    Mobius syndrome (MBS) is a neurological disorder that is characterized by paralysis of the facial nerves and variable other congenital anomalies. The aetiology of this syndrome has been enigmatic since the initial descriptions by von Graefe in 1880 and by Mobius in 1888, and it has been debated for decades whether MBS has a genetic or a non-genetic aetiology. Here, we report de novo mutations affecting two genes, PLXND1 and REV3L in MBS patients. PLXND1 and REV3L represent totally unrelated p...

  15. TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.

    Science.gov (United States)

    Lambacher, Nils J; Bruel, Ange-Line; van Dam, Teunis J P; Szymańska, Katarzyna; Slaats, Gisela G; Kuhns, Stefanie; McManus, Gavin J; Kennedy, Julie E; Gaff, Karl; Wu, Ka Man; van der Lee, Robin; Burglen, Lydie; Doummar, Diane; Rivière, Jean-Baptiste; Faivre, Laurence; Attié-Bitach, Tania; Saunier, Sophie; Curd, Alistair; Peckham, Michelle; Giles, Rachel H; Johnson, Colin A; Huynen, Martijn A; Thauvin-Robinet, Christel; Blacque, Oliver E

    2016-01-01

    The transition zone (TZ) ciliary subcompartment is thought to control cilium composition and signalling by facilitating a protein diffusion barrier at the ciliary base. TZ defects cause ciliopathies such as Meckel-Gruber syndrome (MKS), nephronophthisis (NPHP) and Joubert syndrome (JBTS). However, the molecular composition and mechanisms underpinning TZ organization and barrier regulation are poorly understood. To uncover candidate TZ genes, we employed bioinformatics (coexpression and co-evolution) and identified TMEM107 as a TZ protein mutated in oral-facial-digital syndrome and JBTS patients. Mechanistic studies in Caenorhabditis elegans showed that TMEM-107 controls ciliary composition and functions redundantly with NPHP-4 to regulate cilium integrity, TZ docking and assembly of membrane to microtubule Y-link connectors. Furthermore, nematode TMEM-107 occupies an intermediate layer of the TZ-localized MKS module by organizing recruitment of the ciliopathy proteins MKS-1, TMEM-231 (JBTS20) and JBTS-14 (TMEM237). Finally, MKS module membrane proteins are immobile and super-resolution microscopy in worms and mammalian cells reveals periodic localizations within the TZ. This work expands the MKS module of ciliopathy-causing TZ proteins associated with diffusion barrier formation and provides insight into TZ subdomain architecture. PMID:26595381

  16. Impact of timing on surgical outcome in patients with cauda equina syndrome caused by lumbar disc herniation.

    Science.gov (United States)

    Bečulić, Hakija; Skomorac, Rasim; Jusić, Aldin; Alić, Fahrudin; Imamović, Melica; Mekić-Abazović, Alma; Efendić, Alma; Brkić, Harun; Denjalić, Amir

    2016-08-01

    Aim To analyze the relationship between timing of surgery and outcome in patients with cauda equina syndrome caused by lumbar disc herniation. Methods A retrospective, non-randomized clinical study included 25 consecutive patients with cauda equina syndrome (CES) caused by lumbar disc herniation. All patients were operated within 24 hours after hospitalization at the Department of Neurosurgery, Cantonal Hospital Zenica, Bosnia and Herzegovina, between January 2000 and December 2010. All patients were evaluated before surgery on the basis of complete history, neurological examination and neuroimaging evaluations using CT (computed tomography)and MRI (magnetic resonance imaging). Results Statistically significant difference between preoperative and postoperative bladder (p=0.05) and bowel (p=0.05) function was found. A significant number of patients had bladder and bowel recovery after surgery, nine (36%) and 11 (44%), respectively. Significant recovery of muscle strength was noted with complete recovery(5/5) in 12 (48%) and partial recovery in 13 (52%) patients. Complete sensory recovery was noted in 16 (64%), incomplete in four (16%), and in five (20%) patients there were no changes. Most commonly, patients with complete sensory recovery were operated within 48 hours of symptom onset. In most patients early surgery was associated with better outcome. Conclusion This research showed that early decompression correlated with better outcome. Patients with cauda equina syndrome must be cleared for surgery in optimal conditions and, if it possible within optimal timing for recovery (within 48 hours). PMID:27452326

  17. Hepatic Rupture Caused by Hemolysis, Elevated Liver Enzyme, and Low Platelet Count Syndrome: A Case Report with Computed Tomographic and Conventional Angiographic Findings

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Cheong Bok; Ahn, Jae Hong; Choi, Soo Jung; Lee, Jong Hyeog; Park, Man Soo; Jung, Seung Mun; Ryu, Dae Sik [Dept. of Radiology, Asan Foundation, Gangneung Asan Hospital, University of Ulsan College of Medicine, Gangneung (Korea, Republic of)

    2013-03-15

    The authors recently obtained successful clinical outcome after embolization of the hepatic artery and right inferior phrenic artery in a pregnant patient with hemolysis, elevated liver enzyme, and low platelet count (HELLP) syndrome causing hepatic rupture. We report the computed tomographic and conventional angiographic findings in a case of HELLP syndrome, resulting in hepatic infarction and rupture with active bleeding.

  18. Marfan Syndrome

    Science.gov (United States)

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

  19. Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

    DEFF Research Database (Denmark)

    Aligianis, Irene A; Johnson, Colin A; Gissen, Paul; Chen, Dongrong; Hampshire, Daniel; Hoffmann, Katrin; Maina, Esther N; Morgan, Neil V; Tee, Louise; Morton, Jenny; Ainsworth, John R; Horn, Denise; Rosser, Elisabeth; Cole, Trevor R P; Stolte-Dijkstra, Irene; Fieggen, Karen; Clayton-Smith, Jill; Mégarbané, André; Shield, Julian P; Newbury-Ecob, Ruth; Dobyns, William B; Graham, John M; Kjær, Klaus Wilbrandt; Warburg, Mette; Bond, Jacqueline; Trembath, Richard C; Harris, Laura W; Takai, Yoshimi; Mundlos, Stefan; Tannahill, David; Woods, C Geoffery; Maher, Eamonn R

    2005-01-01

    Warburg Micro syndrome (WARBM1) is a severe autosomal recessive disorder characterized by developmental abnormalities of the eye and central nervous system and by microgenitalia. We identified homozygous inactivating mutations in RAB3GAP, encoding RAB3 GTPase activating protein, a key regulator of...

  20. Treatment of Guillain-Barré syndrome and causes and treatment of residual fatigue

    NARCIS (Netherlands)

    M.P.J. Garssen (Marcel)

    2005-01-01

    textabstractChapter 1 is the general introduction of this thesis, in which di.erent aspects of the Guillain-Barré syndrome (GBS) are described. GBS is an acute post-infectious polyneuropathy, in which the immune system plays an important role. Insight in pathogenesis, clinical and electrophysiologic

  1. Ramsay Hunt Syndrome : Clinical Characterization of Progressive Myoclonus Ataxia Caused by GOSR2 Mutation

    NARCIS (Netherlands)

    van Egmond, Martje E.; Verschuuren - Bemelmans, Cornelia; Nibbeling, Esther A.; Elting, Jan Willem J.; Sival, Deborah A.; Brouwer, Oebele F.; de Vries, Jeroen J.; Kremer, Hubertus P.; Sinke, Richard J.; Tijssen, Marina A.; de Koning, Tom J.

    2014-01-01

    BACKGROUND: Ramsay Hunt syndrome (progressive myoclonus ataxia) is a descriptive diagnosis characterized by myoclonus, ataxia, and infrequent seizures. Often the etiology cannot be determined. Recently, a mutation in the GOSR2 gene (c.430G>T, p.Gly144Trp) was reported in 6 patients with childhood-on

  2. Middle aortic syndrome as a cause of heart failure in children and its management.

    OpenAIRE

    Gupta, S; Goswami, B.; Ghosh, D C; Sen Gupta, A N

    1981-01-01

    Two cases of middle aortic syndrome in children are described along with two other cases reported earlier. In childhood, this disease may present as incipient or overt cardiac failure. Surgical treatment should be undertaken based on an objective assessment of the severity of the stricture and after taking into account the future growth of the child.

  3. FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome.

    NARCIS (Netherlands)

    Fonzo, A. Di; Dekker, M.C.J.; Montagna, P.; Baruzzi, A.; Yonova, E.H.; Correia Guedes, L.; Szczerbinska, A.; Zhao, T.; Dubbel-Hulsman, L.O.; Wouters, C.H.; Graaff, E. de; Oyen, W.J.G.; Simons, E.J.; Breedveld, G.J.; Oostra, B.A.; Horstink, M.W.I.M.; Bonifati, V.

    2009-01-01

    BACKGROUND: The combination of early-onset, progressive parkinsonism with pyramidal tract signs has been known as pallido-pyramidal or parkinsonian-pyramidal syndrome since the first description by Davison in 1954. Very recently, a locus was mapped in a single family with an overlapping phenotype, a

  4. Churg-Strauss syndrome involving the breast: a rare cause of eosinophilic mastitis

    Energy Technology Data Exchange (ETDEWEB)

    Villalba-Nuno, Virtudes [Department of Radiology, C.A.P. II Sant Feliu, Marquesa de Castellbell, Sant Feliu de Llobregat (Spain); Sabate, Josep M.; Gomez, Antonio; Torrubia, Sofia [Department of Radiology, Hospital de Sant Pau, Barcelona (Spain); Vidaller, Antonio [Department of Internal Medicine, Hospital de Bellvitge, L' Hospitalet de Llobregat (Spain); Catala, Isabel [Department of Pathology, Hospital de Bellvitge, L' Hospitalet de Llobregat (Spain); Escobedo, Agustin [Department of Oncology, Hospital Duran i Reynals, L' Hospitalet de Llobregat (Spain)

    2002-03-01

    Churg-Strauss syndrome is a rare immunoallergic disorder that usually affects lungs, skin and nervous system. The clinical and radiological findings of Churg-Strauss disease involving the breast are reported and attention is drawn to the fact that, although uncommonly, the breast can be involved by immunological diseases. (orig.)

  5. Churg-Strauss syndrome involving the breast: a rare cause of eosinophilic mastitis

    International Nuclear Information System (INIS)

    Churg-Strauss syndrome is a rare immunoallergic disorder that usually affects lungs, skin and nervous system. The clinical and radiological findings of Churg-Strauss disease involving the breast are reported and attention is drawn to the fact that, although uncommonly, the breast can be involved by immunological diseases. (orig.)

  6. Food Protein-Induced Enterocolitis Syndrome as a Cause for Infant Hypotension

    Directory of Open Access Journals (Sweden)

    Marna Rayl Greenberg

    2011-05-01

    Full Text Available Infants with food protein-induced enterocolitis syndrome (FPIES may present to the emergency department (ED with vomiting and hypotension. A previously healthy, 5-month-old male presented with vomiting and hypotension 2 to 3 hours after eating squash. The patient was resuscitated with intravenous fluids, antibiotics, and admitted for presumed sepsis. No source of infection was ever found and the patient was discharged. The patient returned 8 days later with the same symptoms after eating sweet potatoes; the diagnosis of FPIES was made during this admission. Two additional ED visits occurred requiring hydration after new food exposure. FPIES should be considered in infants presenting with gastrointestinal complaints and hypotension. A dietary history, including if a new food has been introduced in the last few hours, may help facilitate earlier recognition of the syndrome. [West J Emerg Med. 2011;12(4:512–514.

  7. Thoracic outlet syndrome caused by hydatid cyst of the first rib-rare but important.

    Science.gov (United States)

    Levy Faber, Dan; Best, Lael-Anson; Militianu, Daniela; Ben Nun, Alon

    2010-12-01

    Hydatid cysts are usually located in the liver and lungs. Skeletal echinococcosis is relatively rare and that of the rib is exceptional. Less than 50 cases of costal echinococcosis have been reported in the literature so far. To our knowledge, only one case report of thoracic outlet syndrome due to echinococcal cyst in the first rib was described in 1995. Accurate pre-operative diagnosis is important but may be challenging in some cases. Reported here is a case of echinococcosis of the first rib in a young adult who was presented with thoracic outlet syndrome. Plain chest radiograph, CT scan and MRI were performed. The imaging features were suggestive of a solitary aneurysmal bone cyst and the differential diagnosis included echinococcosis of the first rib. The lesion was completely resected and the histopathological examination confirmed the diagnosis of echinococcosis. PMID:22131660

  8. Successful Multimodality Endoscopic Treatment of Gastric Outlet Obstruction Caused by an Impacted Gallstone (Bouveret's Syndrome

    Directory of Open Access Journals (Sweden)

    Jason N. Rogart

    2008-01-01

    Full Text Available Bouveret's syndrome is a rare condition of gastric outlet obstruction resulting from the migration of a gallstone through a choledochoduodenal fistula. Due to the large size of these stones and the difficult location in which they become impacted, endoscopic treatment is unsuccessful and most patients require surgery. We report the case of an elderly male who presented with nausea and hematemesis, and was found on CT scan and endoscopy to have an obstructing gallstone in his duodenal bulb. After several endoscopic sessions and the use of multiple instruments including a Holmium: YAG laser and electrohydraulic lithotripter, fragmentation and endoscopic removal of the stone were successful. We believe this to be the first case of Bouveret's syndrome successfully treated by endoscopy alone in the United States. We describe the difficulties encountered which necessitated varied and innovative therapeutic techniques.

  9. Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.

    OpenAIRE

    Bondurand, Nadège; Dastot-Le Moal, Florence; Stanchina, Laure; Collot, Nathalie; Baral, Viviane; Marlin, Sandrine; Attie-Bitach, Tania; Giurgea, Irina; Skopinski, Laurent; Reardon, William; Toutain, Annick; Sarda, Pierre; Echaieb, Anis; Lackmy-Port-Lis, Marilyn; Touraine, Renaud

    2007-01-01

    International audience Waardenburg syndrome (WS) is an auditory-pigmentary disorder that exhibits varying combinations of sensorineural hearing loss and abnormal pigmentation of the hair and skin. Depending on additional symptoms, WS is classified into four subtypes, WS1-WS4. Absence of additional features characterizes WS2. The association of facial dysmorphic features defines WS1 and WS3, whereas the association with Hirschsprung disease (aganglionic megacolon) characterizes WS4, also ca...

  10. Herlyn–Werner–Wunderlich syndrome: a rare cause of pelvic pain in adolescent girls

    OpenAIRE

    Aveiro, Ana Cristina; Miranda, Victor; Cabral, António Jorge; Nunes, Sidónia; Paulo, Filomeno; Freitas, Conceição

    2011-01-01

    The Herlyn–Werner–Wunderlich syndrome is a rare congenital anomaly characterised by uterus didelphys with blind hemivagina and ipsilateral renal agenesis. It usually presents after menarche with progressive pelvic pain during menses secondary to haematocolpos. Awareness is necessary in order to diagnose and treat this disorder properly before complications occur. MRI is the preferred modality for the delineation of uterine malformation. When renal anomalies are encountered, a screening should...

  11. Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome

    OpenAIRE

    Hood, Rebecca L.; Lines, Matthew A.; Nikkel, Sarah M.; Schwartzentruber, Jeremy; Beaulieu, Chandree; Nowaczyk, Małgorzata J.M.; Allanson, Judith; Kim, Chong Ae; Wieczorek, Dagmar; Moilanen, Jukka S.; Lacombe, Didier; Gillessen-Kaesbach, Gabriele; Whiteford, Margo L.; Quaio, Caio Robledo D.C.; Gomy, Israel

    2012-01-01

    Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delayed osseous maturation, expressive-language deficits, and a distinctive facial appearance. Occurrence is generally sporadic, although parent-to-child transmission has been reported on occasion. Employing whole-exome sequencing, we identified heterozygous truncating mutations in SRCAP in five unrelated individuals with sporadic FHS. Sanger sequencing identified mutations in SRCAP in eight more affected perso...

  12. Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome

    OpenAIRE

    Campeau, Philippe M.; Kim, Jaeseung C.; Lu, James T.; Schwartzentruber, Jeremy A.; Abdul-Rahman, Omar A.; Schlaubitz, Silke; Murdock, David M.; Jiang, Ming-Ming; Lammer, Edward J.; Enns, Gregory M.; Rhead, William J.; Rowland, Jon; Robertson, Stephen P.; Cormier-Daire, Valérie; Bainbridge, Matthew N.

    2012-01-01

    Genitopatellar syndrome (GPS) is a skeletal dysplasia with cerebral and genital anomalies for which the molecular basis has not yet been determined. By exome sequencing, we found de novo heterozygous truncating mutations in KAT6B (lysine acetyltransferase 6B, formerly known as MYST4 and MORF) in three subjects; then by Sanger sequencing of KAT6B, we found similar mutations in three additional subjects. The mutant transcripts do not undergo nonsense-mediated decay in cells from subjects with G...

  13. Symmetrical corticobasal syndrome caused by a novel c.314dup progranulin mutation

    OpenAIRE

    Dopper, Elise; Seelaar, Harro; Chiu, Wang Zheng; de Koning, Inge; van Minkelen, Rick; Baker, Matthew; Rozemuller, Annemieke; Rademakers, Rosa; van Swieten, J. C.

    2011-01-01

    textabstractCorticobasal syndrome (CBS) is characterised by asymmetrical parkinsonism and cognitive impairment. The underlying pathology varies between corticobasal degeneration, progressive supranuclear palsy, Alzheimer's disease, Creutzfeldt-Jakob disease and frontotemporal lobar degeneration sometimes in association with GRN mutations. A 61-year-old male underwent neurological examination, neuropsychological assessment, MRI, and HMPAO-SPECT at our medical centre. After his death at the age...

  14. Molasses as a possible cause of an ''endocrine disruptive syndrome'' in calves

    OpenAIRE

    M.S. Masgoret; C.J. Botha; J. G. Myburgh; T.W. Naude; L. Prozesky; Naidoo, V.; J. H. van Wyk; E.J. Pool; Swan, G E

    2009-01-01

    During the mid 1990s a potentially serious, chronic syndrome was reported in well-managed beef and dairy herds from unrelated parts of South Africa. Farmers reported that it manifested as various combinations of decreased production, decreased weaning masses, apparent immune breakdown in previously immunocompetent animals, increased reproductive disorders, various mineral imbalances in non-deficient areas and goitre, noticeable as enlarged thyroid glands. The farmers associated this syn...

  15. Molasses as a possible cause of an "endocrine disruptive syndrome" in calves.

    Science.gov (United States)

    Masgoret, M S; Botha, C J; Myburgh, J G; Naudé, T W; Prozesky, L; Naidoo, V; Van Wyk, J H; Pool, E J; Swan, G E

    2009-06-01

    During the mid 1990s a potentially serious, chronic syndrome was reported in well-managed beef and dairy herds from unrelated parts of South Africa. Farmers reported that it manifested as various combinations of decreased production, decreased weaning masses, apparent immune breakdown in previously immunocompetent animals, increased reproductive disorders, various mineral imbalances in non-deficient areas and goitre, noticeable as enlarged thyroid glands. The farmers associated this syndrome with certain batches of sugar cane molasses and molasses-based products. The syndrome was reminiscent of an "endocrine disruptive syndrome". The objective of this study was to evaluate the suspected endocrine disruptive effect of molasses included in cattle feed. Using existing in vitro assays, four batches of molasses syrup were screened for possible inclusion in a calf feeding trial. Two batches were selected for the trial. Thirty-two, 4- to 6-week-old, weaned Holstein bull calves were included in the single phase, three treatment, parallel design experiment. In two of the groups of calves, two different batches of molasses were included in their rations respectively. The control group was fed a ration to which no molasses was added, but which was balanced for energy and mineral content. The mass gain of the calves was recorded over the 6-month study period. The calves were clinically examined every week and clinical pathology parameters, immune responses and endocrine effects were regularly evaluated. Even though endocrine disrupting effects were detected with the in vitro screening assays, these could not be reproduced in the calves in the experiment. The two batches of molasses utilized in the calf feeding trial did not induce major differences in any of the parameters measured, with the exception of a lower mass gain in one of the molasses-fed groups (Group 1), which tended towards significance. The results of the study indicate that the two batches of molasses had no

  16. Two Uncommon Causes of Guillain-Barré Syndrome: Hepatitis E and Japanese Encephalitis

    OpenAIRE

    Dhrubajyoti Bandyopadhyay; Vijayan Ganesan; Cankatika Choudhury; Suvrendu Sankar Kar; Parthasarathi Karmakar; Vivek Choudhary; Prasun Banerjee; Debarati Bhar; Adrija Hajra; Manas Layek; Sabyasachi Mukhopadhyay

    2015-01-01

    We are presenting two cases of Guillain-Barré syndrome where it is preceded by hepatitis E virus (HEV) and Japanese encephalitis virus (JEV) infection, respectively. Our first case is a forty-three-year-old nondiabetic, nonhypertensive female who was initially diagnosed with acute HEV induced viral hepatitis and subsequently developed acute onset ascending quadriparesis with lower motor neuron type of bilateral facial nerve palsies and respiratory failure. Second patient was a 14-year-old you...

  17. Catatonia in Down syndrome; a treatable cause of regression

    OpenAIRE

    Ghaziuddin N; Nassiri A; Miles JH

    2015-01-01

    Neera Ghaziuddin,1 Armin Nassiri,2 Judith H Miles3 1Department of Psychiatry, University of Michigan, Ann Arbor, Michigan, 2Community Psychiatry, San Jose, California, 3Thompson Center for Autism and Neurodevelopmental Disorders and Department of Child Health, University of Missouri, Columbia, Missouri, USA Objective: The main aim of this case series report is to alert physicians to the occurrence of catatonia in Down syndrome (DS). A second aim is to stimulate the study of regression in DS...

  18. Catatonia in Down syndrome; a treatable cause of regression

    OpenAIRE

    Ghaziuddin, Neera

    2015-01-01

    Neera Ghaziuddin,1 Armin Nassiri,2 Judith H Miles3 1Department of Psychiatry, University of Michigan, Ann Arbor, Michigan, 2Community Psychiatry, San Jose, California, 3Thompson Center for Autism and Neurodevelopmental Disorders and Department of Child Health, University of Missouri, Columbia, Missouri, USA Objective: The main aim of this case series report is to alert physicians to the occurrence of catatonia in Down syndrome (DS). A second aim is to stimulate the study of regression in DS...

  19. Treatment of Guillain-Barré syndrome and causes and treatment of residual fatigue

    OpenAIRE

    Garssen, Marcel

    2005-01-01

    textabstractChapter 1 is the general introduction of this thesis, in which di.erent aspects of the Guillain-Barré syndrome (GBS) are described. GBS is an acute post-infectious polyneuropathy, in which the immune system plays an important role. Insight in pathogenesis, clinical and electrophysiological features, functional outcome, and residual complaints is increasing. To date, fatigue is considered one of the most disabling residual symptoms, seriously a.ecting quality of life. The considera...

  20. Molasses as a possible cause of an ''endocrine disruptive syndrome'' in calves

    Directory of Open Access Journals (Sweden)

    M.S. Masgoret

    2009-09-01

    Full Text Available During the mid 1990s a potentially serious, chronic syndrome was reported in well-managed beef and dairy herds from unrelated parts of South Africa. Farmers reported that it manifested as various combinations of decreased production, decreased weaning masses, apparent immune breakdown in previously immunocompetent animals, increased reproductive disorders, various mineral imbalances in non-deficient areas and goitre, noticeable as enlarged thyroid glands. The farmers associated this syndrome with certain batches of sugar cane molasses and molasses-based products. The syndrome was reminiscent of an ''endocrine disruptive syndrome''. The objective of this study was to evaluate the suspected endocrine disruptive effect of molasses included in cattle feed. Using existing in vitro assays, four batches of molasses syrup were screened for possible inclusion in a calf feeding trial. Two batches were selected for the trial. Thirty-two, 4- to 6-week-old, weaned Holstein bull calves were included in the single phase, three treatment, parallel design experiment. In two of the groups of calves, two different batches of molasses were included in their rations respectively. The control group was fed a ration to which no molasses was added, but which was balanced for energy and mineral content. The mass gain of the calves was recorded over the 6-month study period. The calves were clinically examined every week and clinical pathology parameters, immune responses and endocrine effects were regularly evaluated. Even though endocrine disrupting effects were detected with the in vitro screening assays, these could not be reproduced in the calves in the experiment. The two batches of molasses utilized in the calf feeding trial did not induce major differences in any of the parameters measured, with the exception of a lower mass gain in one of the molasses-fed groups (Group 1, which tended towards significance. The results of the study indicate that the two batches

  1. Neuroleptic Malignant Syndrome: A Rare Cause of Fever 1 in the Emergency Department

    OpenAIRE

    Hayriye Gonullu

    2013-01-01

       Neuroleptic malignant syndrome (NMS) is a rare and life threatening complication of antipsychotic therapy. It presents with fever, altered mental status, autonomic instability and muscle rigidity. Differential diagnosis consist many conditions. NMS is a diagnosis of exclusion. NMS is in the differential diagnosis of patients presenting with fever to emergency department, where careful history and previous medication use is essential for diagnosing and treating this phenomenon.

  2. Neuroleptic Malignant Syndrome: A Rare Cause of Fever 1 in the Emergency Department

    Directory of Open Access Journals (Sweden)

    Hayriye Gonullu

    2013-10-01

    Full Text Available    Neuroleptic malignant syndrome (NMS is a rare and life threatening complication of antipsychotic therapy. It presents with fever, altered mental status, autonomic instability and muscle rigidity. Differential diagnosis consist many conditions. NMS is a diagnosis of exclusion. NMS is in the differential diagnosis of patients presenting with fever to emergency department, where careful history and previous medication use is essential for diagnosing and treating this phenomenon.

  3. Post-polypectomy electrocoagulation syndrome: a rare cause of acute abdominal pain

    Directory of Open Access Journals (Sweden)

    Asad Jehangir

    2015-10-01

    Full Text Available While generally safe, the most feared complication of colonoscopy is perforation of the colon, occurring in nearly 1 in 1,000 procedures, and is more common when polypectomy is performed and electrocautery is used. Less commonly known is the post-polypectomy electrocoagulation syndrome, a transmural burn of the colon which mimics the signs and symptoms of perforation as well as the time course, but follows a benign course and can be treated conservatively.

  4. Air embolism as a cause of the systemic inflammatory response syndrome: a case report

    OpenAIRE

    Kapoor, Tarun; Gutierrez, Guillermo

    2003-01-01

    We describe a case of systemic inflammatory response syndrome associated with air embolism following the removal of a central line catheter, coupled with a deep inspiratory maneuver. The presence of a patent foramen ovale allowed the passage of a clinically significant amount of air from the venous circulation to the systemic circulation. The interaction of air with the systemic arterial endothelium may have triggered the release of endothelium-derived cytokines, resulting in the physiologic ...

  5. Possibilities of the isotopic method in elucidation the causes of splenomegaly in anemic syndrome

    International Nuclear Information System (INIS)

    The method of double labelling of erythrocytes with 51Cr and 59Fe was applied in 87 patients for differentiation the splenomegaly occured in result of increased hemolysis. An increased erythrocyte sequestration in the spleen as a result of a hemolytic syndrome in hemolytic anemia, primary hypersplenism or chronic lypholeucosis was established in 74 of the investigated patients, while 13 patients suffered from extramedullary erythropoiesis in chronic myeloleucosis or myelofibrosis. The indications for splenectomy are discussed

  6. Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome

    OpenAIRE

    Thijssen, Peter E.; Ito, Yuya; Grillo, Giacomo; Wang, Jun; Velasco, Guillaume; Nitta, Hirohisa; Unoki, Motoko; Yoshihara, Minako; Suyama, Mikita; Sun, Yu; Lemmers, Richard J L F; de Greef, Jessica C.; Gennery, Andrew; Picco, Paolo; Kloeckener-Gruissem, Barbara

    2015-01-01

    The life-threatening Immunodeficiency, Centromeric Instability and Facial Anomalies (ICF) syndrome is a genetically heterogeneous autosomal recessive disorder. Twenty percent of patients cannot be explained by mutations in the known ICF genes DNA methyltransferase 3B or zinc-finger and BTB domain containing 24. Here we report mutations in the cell division cycle associated 7 and the helicase, lymphoid-specific genes in 10 unexplained ICF cases. Our data highlight the genetic heterogeneity of ...

  7. Lactose malabsorption and lactose intolerance in adults - a cause of irritable bowel syndrome?

    OpenAIRE

    Nilsson, Åke

    2001-01-01

    Gastroenterologists and general practitioners see many patients that have abdominal symptoms which are not explained when the patients are investigated for celiac disease, inflammatory bowel disease, peptic ulcer or tumours. The diagnosis is irritable bowel syndrome (IBS). Many of these patients report intolerance to certain foods including milk, and some develop symptoms after ingestion of lactose during the lactose tolerance test. In Northern European populations, lactose malabsorption is, ...

  8. Classical Ehlers-Danlos Syndrome Caused by a Mutation in Type I Collagen

    OpenAIRE

    Nuytinck, Lieve; Freund, Margarida; Lagae, Lieven; Pierard, Gerald E.; Hermanns-Le, Trinh; De Paepe, Anne

    2000-01-01

    Classical Ehlers-Danlos syndrome (EDS) is characterized by skin hyperelasticity, joint hypermobility, increased tendency to bruise, and abnormal scarring. Mutations in type V collagen, a regulator of type I collagen fibrillogenesis, have been shown to underlie this type of EDS. However, to date, mutations have been found in only a limited number of patients, which suggests genetic heterogeneity. In this article, we report two unrelated patients with typical features of classical EDS, includin...

  9. Nontropical pyomyositis as a cause of subacute, multifocal myalgia in the acquired immunodeficiency syndrome

    International Nuclear Information System (INIS)

    We report a case of nontropical pyomyositis in a patient with acquired immunodeficiency syndrome and disseminated Mycobacterium avium infection, in which severe myalgia was the presenting symptom over several weeks. Multifocal muscle lesions were identified by gallium scanning and magnetic resonance imaging techniques. The epidemiology, possible pathogenesis, clinical features, diagnostic imaging, and therapy are reviewed. Early suspicion of nontropical pyomyositis in severely immunocompromised patients with cryptic myalgia is recommended

  10. Endoscopically assisted resection of a scapular osteochondroma causing snapping scapula syndrome

    Directory of Open Access Journals (Sweden)

    Futani Hiroyuki

    2007-03-01

    Full Text Available Abstract Background Osteochondroma is the most common benign bone tumor in the scapula. This condition might lead to snapping scapula syndrome, which is characterized by painful, audible, and/or palpable abnormal scapulothoracic motion. In the present case, this syndrome was successfully treated by use of endoscopically assisted resection of the osteochondroma. Case presentation A 41-year-old man had a tolerable pain in his scapular region over a 10 years' period. The pain developed gradually with shoulder motion, in particular with golf swing since he was aiming a professional golf player career. On physical examination, "clunking" was noted once from 90 degrees of abduction to 180 degrees of shoulder motion. A trans-scapular roentgenogram and computed tomography images revealed an osteochondroma located at the anterior and inferior aspect of the scapula. Removal of the tumor was performed by the use of endoscopically assisted resection. One portal was made at the lateral border of the scapula to introduce a 2.7-mm-diameter, 30 degrees Hopkins telescope. The tumor was resected in a piece-by-piece manner by the use of graspers through the same portal. Immediately after the operation pain relief was obtained, and the "clunking" disappeared. CT images showed complete tumor resection. The patient could start playing golf one week after the surgery. Conclusion Endoscopically assisted resection of osteochondroma of the scapula provides a feasible technique to treat snapping scapula syndrome and obtain early functional recovery with a short hospital stay and cosmetic advantage.

  11. A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.

    Science.gov (United States)

    Lange, L; Pagnamenta, A T; Lise, S; Clasper, S; Stewart, H; Akha, E S; Quaghebeur, G; Knight, S J L; Keays, D A; Taylor, J C; Kini, U

    2016-09-01

    Kabuki syndrome is a heterogeneous condition characterized by distinctive facial features, intellectual disability, growth retardation, skeletal abnormalities and a range of organ malformations. Although at least two major causative genes have been identified, these do not explain all cases. Here we describe a patient with a complex Kabuki-like syndrome that included nodular heterotopia, in whom testing for several single-gene disorders had proved negative. Exome sequencing uncovered a de novo c.931_932insTT variant in HNRNPK (heterogeneous nuclear ribonucleoprotein K). Although this variant was identified in March 2012, its clinical relevance could only be confirmed following the August 2015 publication of two cases with HNRNPK mutations and an overlapping phenotype that included intellectual disability, distinctive facial dysmorphism and skeletal/connective tissue abnormalities. Whilst we had attempted (unsuccessfully) to identify additional cases through existing collaborators, the two published cases were 'matched' using GeneMatcher, a web-based tool for connecting researchers and clinicians working on identical genes. Our report therefore exemplifies the importance of such online tools in clinical genetics research and the benefits of periodically reviewing cases with variants of unproven significance. Our study also suggests that loss of function variants in HNRNPK should be considered as a molecular basis for patients with Kabuki-like syndrome. PMID:26954065

  12. Persistence of secondary restless legs syndrome in a phantom limb caused by end-stage renal disease.

    Science.gov (United States)

    Nishida, Shingo; Hitsumoto, Akiko; Namba, Kazuyoshi; Usui, Akira; Inoue, Yuichi

    2013-01-01

    Our patient had secondary restless legs syndrome (RLS) in the left lower limb caused by end-stage renal disease (ESRD). Severe RLS symptoms persisted even after amputation of the affected limb. Considering that oral administration of a dopamine receptor agonist was effective in treating the RLS in the phantom limb in this case, dysfunction of the central dopaminergic system was thought to be involved in the phantom limb-RLS mechanism. The persistence of RLS symptoms even after amputation of the affected limb suggests that the area responsible for ESRD-related RLS symptoms exists at the spinal level or in the higher central nervous system. PMID:23545682

  13. Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability.

    Science.gov (United States)

    Houge, G; Rasmussen, I H; Hovland, R

    2012-01-01

    In a non-dysmorphic 5-year-old boy with developmental delay, well-controlled epilepsy, and microcephaly, a 234-kb deletion of Xp22.12 was detected by copy number analysis. The maternally inherited deletion removed the initial 15 of the 21 exons of the connector enhancer of KSR-2 gene called CNKSR2 or CNK2. Our finding suggests that loss of CNKSR2 is a novel cause of non-syndromic X-linked mental retardation, an assumption supported by high gene expression in the brain, localization to the post-synaptic density, and a role in RAS/MAPK-dependent signal transduction. PMID:22511892

  14. Papular-purpuric "gloves and socks" syndrome caused by parvovirus B19 infection in Brazil: a case report

    Directory of Open Access Journals (Sweden)

    Marcos Tadashi Kakitani Toyoshima

    2006-02-01

    Full Text Available Papular-purpuric "gloves and socks" syndrome (PPGSS is a novel, rare, self-limiting dermatosis caused by human parvovirus B19. It consists of pruritic edema and erythema of the hands and feet in a gloves-and-socks distribution, and it is associated with oral lesions and fever. We present a case of PPGSS in a 22-year-old Brazilian woman. Clinical and laboratory evaluation, including serological tests, PCR and gene sequencing, confirmed the presence of human parvovirus B19.

  15. Acute intermittent porphyria leading to posterior reversible encephalopathy syndrome (PRES): a rare cause of abdominal pain and seizures.

    Science.gov (United States)

    Dagens, Andrew; Gilhooley, Michael James

    2016-01-01

    Acute intermittent porphyria (AIP) is an inherited deficiency in the haem biosynthesis pathway. AIP is rare, affecting around 1 in 75 000 people. Acute attacks are characterised by abdominal pain associated with autonomic, neurological and psychiatric symptoms. AIP is rarely associated with posterior reversible encephalopathy syndrome (PRES). PRES is a clinicoradiological condition caused by the failure of the posterior circulation to autoregulate, resulting in cerebral oedema, headaches, nausea and seizures. This association is important because drugs used in the management of seizures may worsen an attack of AIP. This article describes a case of AIP and PRES in a young woman. PMID:27277587

  16. Hyperimmunoglobulinaemia D syndrome: a rare cause of prolonged fever and treatment with anti-interleukin 1 agent.

    Science.gov (United States)

    Aygun, Deniz; Sahin, Sezgin; Cokugras, Haluk; Kasapcopur, Ozgur

    2016-01-01

    Hyperimmunoglobulinaemia D syndrome (HIDS) is an autosomal recessive, autoinflammatory disease that is characterised with intermittent febrile episodes, cervical lymphadenopathy, rashes, arthritis and gastrointestinal symptoms associated with synovial or serosal inflammation. HIDS is caused by mutations in the gene encoding mevalonate kinase enzyme. The febrile attacks usually start in early childhood and triggered by stress or vaccinations. We report a case of 16-month-old boy who had episodes of recurrent fever accompanied by maculopapular rash and lymphadenopathy. He was diagnosed as HIDS and he had heterozygote mutation of mevalonate kinase gene. PMID:27190114

  17. Deletion at chromosome 16p13. 3 as a cause of Rubinstein-Taybi syndrome: Clinical aspects

    Energy Technology Data Exchange (ETDEWEB)

    Hennekam, R.C.M.; Tilanus, M.; Boogaard, M.J.H. van den (State Univ., Utrecht (Netherlands)); Hamel, B.C.J.; Voshart-van Heeren, H.; Mariman, E.C.M.; Beersum, S.E.C. van (University Hospital, Nijmegen (Netherlands)); Breuning, M.H. (Clinical Genetics Center, Rotterdam (Netherlands))

    1993-02-01

    In the accompanying paper, a chromosomal localization of the Rubinstein-Taybi syndrome by cytogenetic investigations with fluorescence in situ hybridization techniques at chromosome 16p13.3 is described. The authors investigated 19 of these patients and their parents (a) to ascertain the parental origin of the chromosome with the deletion in families where such a deletion was detected, (b) to disclose whether uniparental disomy plays a role in etiology, and (c) to compare clinical features in patients with a deletion to those in individuals in whom deletions were not detectable. Molecular studies showed a copy of chromosome 16 from each parent in all 19 patients. Uniparental disomy was also excluded for five other chromosome arms known to be imprinted in mice. None of the probes used for determining the origin of the deleted chromosome proved to be informative. The clinical features were essentially the same in patients with and without visible deletion, with a possible exception for the incidence of microcephaly, angulation of thumbs and halluces, and partial duplication of the halluces. A small deletion at 16p13.3 may be found in some patients with Rubinstein-Taybi syndrome. Cytogenetically undetectable deletions, point mutations, mosaicism, heterogeneity, or phenocopy by a nongenetic cause are the most probable explanations for the absence of cytogenetic or molecular abnormalities in other patients with Rubinstein-Taybi syndrome. 26 refs., 3 tabs., 2 figs.

  18. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

    Science.gov (United States)

    Kondo, Shinji; Schutte, Brian C.; Richardson, Rebecca J.; Bjork, Bryan C.; Knight, Alexandra S.; Watanabe, Yoriko; Howard, Emma; Ferreira de Lima, Renata L.L.; Daack-Hirsch, Sandra; Sander, Achim; McDonald-McGinn, Donna M.; Zackai, Elaine H.; Lammer, Edward J.; Aylsworth, Arthur S.; Ardinger, Holly H.; Lidral, Andrew C.; Pober, Barbara R.; Moreno, Lina; Arcos-Burgos, Mauricio; Valencia, Consuelo; Houdayer, Claude; Bahuau, Michel; Moretti-Ferreira, Danilo; Richieri-Costa, Antonio; Dixon, Michael J.; Murray, Jeffrey C.

    2011-01-01

    Interferon regulatory factor 6 (IRF6) belongs to a family of nine transcription factors that share a highly conserved helix–turn–helix DNA-binding domain and a less conserved protein-binding domain. Most IRFs regulate the expression of interferon-α and -β after viral infection1, but the function of IRF6 is unknown. The gene encoding IRF6 is located in the critical region for the Van der Woude syndrome (VWS; OMIM 119300) locus at chromosome 1q32–q41 (refs 2,3). The disorder is an autosomal dominant form of cleft lip and palate with lip pits4, and is the most common syndromic form of cleft lip or palate. Popliteal pterygium syndrome (PPS; OMIM 119500) is a disorder with a similar orofacial phenotype that also includes skin and genital anomalies5. Phenotypic overlap6 and linkage data7 suggest that these two disorders are allelic. We found a nonsense mutation in IRF6 in the affected twin of a pair of monozygotic twins who were discordant for VWS. Subsequently, we identified mutations in IRF6 in 45 additional unrelated families affected with VWS and distinct mutations in 13 families affected with PPS. Expression analyses showed high levels of Irf6 mRNA along the medial edge of the fusing palate, tooth buds, hair follicles, genitalia and skin. Our observations demonstrate that haploinsufficiency of IRF6 disrupts orofacial development and are consistent with dominant-negative mutations disturbing development of the skin and genitalia. PMID:12219090

  19. Swyer’s syndrome: a rare cause of primary amenorrhoea

    Directory of Open Access Journals (Sweden)

    Kusuma Naik M.V.

    2013-08-01

    Full Text Available This is a rare case of pure gonadal dysgenesis, the exact incidence of the condition is unknown but can be estimated at 1:80 000 births. The patient presented with primary amenorrhoea , after complete evaluation it was diagnosed as Swyer’s syndrome, which is 46,XY complete gonadal dysgenesis (46,XY CGD characterized by a 46,XY karyotype, normal female external genitalia, completely undeveloped (”streak” gonads, no sperm production, and presence of normal mullerian structures. [Int J Reprod Contracept Obstet Gynecol 2013; 2(4.000: 711-713

  20. Papular-purpuric "gloves and socks" syndrome caused by parvovirus B19

    Directory of Open Access Journals (Sweden)

    Pavlović Miloš D.

    2003-01-01

    Full Text Available This paper presents a 15-year-old boy with an acute febrile illness accompanied by purpuric and papular lesions located mostly on the dorsal areas of his hands and feet with the additional changes on his knees and elbows. Serologic studies confirmed the acute infection by parvovirus B19. Apart from mild leukocytosis there were no other abnormalities in hematologic and laboratory findings. The diagnosis of papular-purpuric "gloves and socks" syndrome (PPGSS was made. Cutaneous changes completely resolved two weeks later. Herein the patient's condition was described together with a brief overview of the PPGSS literature concerning this relatively rare viral exanthema.

  1. Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3

    OpenAIRE

    Breuning, Martijn H; Dauwerse, Hans G.; Fugazza, Gluseppina; Saris, Jasper J; Spruit, Lia; Wijnen, Herman; Tommerup, Niels; van der Hagen, C B; Imaizumi, Kiyoshi; Kuroki, Yoshikazu; van den Boogaard, Marie-Jose; de Pater, Joke M.; Mariman, Edwin C. M.; Hamel, Ben C J; Himmelbauer, Heinz

    1993-01-01

    The Rubinstein-Taybi syndrome (RTS) is a well-defined complex of congenital malformations characterized by facial abnormalities, broad thumbs and big toes, and mental retardation. The breakpoint of two distinct reciprocal translocations occurring in patients with a clinical diagnosis of RTS was located to the same interval on chromosome 16, between the cosmids N2 and RT1, in band 16p13.3. By using two-color fluorescence in situ hybridization, the signal from RT1 was found to be missing from o...

  2. Life Threatening, Allopurinol-related Dress Syndrome as a Rare Cause of Fever of Unknown Origin.

    Science.gov (United States)

    Civardi, Giuseppe; Zanlari, Luca; Bassi, Emanuele; Zangrandi, Adriano; Maria Cesinaro, Anna; Nosseir, Sofia; De Maria, Nicola

    2015-01-01

    Drug reaction eosinophilia with systemic symptoms (DRESS) syndrome is a potentially life threatening condition secondary to the usage of a wide type of drugs. A 38-year-old woman under allopurinol therapy for hyperuricemia was admitted in our department with fever and a diffuse cutaneous erythematous eruption. A few days after admission she developed rapidly progressive signs of acute liver and kidney failure. Subsequently, her clinical conditions shortly improved. The histologic findings obtained from skin and liver biopsies were consistent with a toxic drug reaction. The patient completely recovered and has been healthy for five years. PMID:26278306

  3. A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family

    OpenAIRE

    Dong, Jiamei; Bu, Juan; Du, Wei; Li, Yuan; Jia, Yanlei; Li, Jianchang; Meng, Xiaoli; Minghui YUAN; Peng, Xiaojuan; Zhou, Aimin; Wang, Lejin

    2012-01-01

    Purpose Screening of mutations in the fibrillin-1 (FBN1) gene in a Chinese family with autosomal dominant Marfan syndrome (MFS). Methods It has been reported that FBN1 mutations account for approximately 90% of Autosomal Dominant MFS. FBN1 mutations were analyzed in a Chinese family of 36 members including 13 MFS patients. The genomic DNAs from blood leukocytes of the patients and their relatives were isolated and the entire coding region of FBN1 was amplified by PCR. The sequence of FBN1 was...

  4. Thoracic Outlet Syndrome Caused by Hydatid Cyst of the First Rib-Rare But Important

    OpenAIRE

    Levy Faber, Dan; Best, Lael-Anson; Militianu, Daniela; Ben Nun, Alon

    2010-01-01

    Hydatid cysts are usually located in the liver and lungs. Skeletal echinococcosis is relatively rare and that of the rib is exceptional. Less than 50 cases of costal echinococcosis have been reported in the literature so far. To our knowledge, only one case report of thoracic outlet syndrome due to echinococcal cyst in the first rib was described in 1995. Accurate pre-operative diagnosis is important but may be challenging in some cases. Reported here is a case of echinococcosis of the first ...

  5. Skin lesions simulating blue toe syndrome caused by prolonged contact with a millipede

    Directory of Open Access Journals (Sweden)

    Augusto Scardazan Heeren Neto

    2014-04-01

    Full Text Available Venomous animals are those that, by means of a hunting and defense mechanism, are able to inject their prey with a toxic substance produced in their bodies, directly from specialized glands (e.g., tooth, sting, spur through which the poison passes. Millipedes are poisonous animals; they can be harmful to humans, and their effects usually manifest as erythematous, purpuric, and cyanotic lesions; local pain; and paresthesia. Here, we report a case of skin contact with a millipede for 6h resulting in skin lesions similar to blue toe syndrome.

  6. Auditory hair cell defects as potential cause for sensorineural deafness in Wolf-Hirschhorn syndrome

    OpenAIRE

    Mohi Ahmed; Kiyoe Ura; Andrea Streit

    2015-01-01

    WHSC1 is a histone methyltransferase (HMT) that catalyses the addition of methyl groups to lysine 36 on histone 3. In humans, WHSC1 haploinsufficiency is associated with all known cases of Wolf-Hirschhorn syndrome (WHS). The cardinal feature of WHS is a craniofacial dysmorphism, which is accompanied by sensorineural hearing loss in 15% of individuals with WHS. Here, we show thatWHSC1-deficient mice display craniofacial defects that overlap with WHS, including cochlea anomalies. Although audit...

  7. Neoplasias of the scapula - rare causes of a chronic shoulder-hand syndrome

    International Nuclear Information System (INIS)

    The diseases most frequently resulting in a chronic shoulder-hand syndrome are definitely of a post-traumatic nature and are later - after a varying period - often combined with degenerative changes. The tendency to injury is enhanced by the particularly great mobility of the shoulder joint. Inflammatory changes - e.g. of bacterial, rheumatic origin - are much rarer. The authors present two patients with rare neoplastic lesions in the region of the shoulder-blade and show how the disease was identified via various differential diagnostic methods. (orig.)

  8. Identification of an angiogenic factor that when mutated causes susceptibility to Klippel–Trenaunay syndrome

    OpenAIRE

    Tian, Xiao-Li; Kadaba, Rajkumar; You, Sun-Ah; Liu, Mugen; TIMUR, AYSE ANIL; Yang, Lin; Chen, Qiuyun; Szafranski, Przemyslaw; Rao, Shaoqi; Wu, Ling; Housman, David E.; Dicorleto, Paul E.; Driscoll, David J.; Borrow, Julian; Wang, Qing

    2004-01-01

    Angiogenic factors are critical to the initiation of angiogenesis and maintenance of the vascular network1. Here we use human genetics as an approach to identify an angiogenic factor, VG5Q, and further define two genetic defects of VG5Q in patients with the vascular disease Klippel–Trenaunay syndrome (KTS)2,3. One mutation is chromosomal translocation t(5;11), which increases VG5Q transcription. The second is mutation E133K identified in five KTS patients, but not in 200 matched controls. VG5...

  9. [Clinico-radiological and functional aspects of respiratory syndromes caused by collagen diseases].

    Science.gov (United States)

    Fumagalli, G; Allegra, L; Bianco, S; Gangarossa, C; Ortolani, C; Rizzi, A M

    1976-11-01

    The clinical and radiological features in 100 patients with collagen diseases (rheumatoid arthritis, lupus, sclerodermia, dermatomyositis, and panarteritis nodosa) were compared with respiratory performance. 56 patients were drawn from the series of Pende et Al. and 44 from a personal series. The results are set out in tables and graphs. It was found that lung lesions due to collagen disease have no special clinical and radiological features. Respiratory performance is that of a restrictive syndrome that gradually progresses from A.R. to E.S., S. and P.M., accompanied by obstruction of the large airways, as shown by hyperinsufflation in sclerodermia and reduced specific conductance in rheumatoid arthritis. PMID:995294

  10. Mortality ratios, life expectancy, and causes of death in patients with Turner's syndrome.

    OpenAIRE

    Price, W H; Clayton, J F; Collyer, S; De Mey, R; Wilson, J.

    1986-01-01

    In a prospective study of 156 female patients with Turner's syndrome who had survived infancy and been followed up for an average of 17 years there were 15 deaths. The expected mortality was 3.6. Sixteen of the patients had a congenital heart anomaly and five of the deaths occurred in this group. The 10 deaths in the remaining 140 were three times as many as expected. The reduction in life expectation was 12.5 years at age 1 year, 11 years at age 20, and 10 years at age 40. Deaths were due to...

  11. Silvery Hair with Speckled Dyspigmentation: Chediak-Higashi Syndrome in Three Indian Siblings.

    Science.gov (United States)

    Raghuveer, Chekuri; Murthy, Sambasiviah Chidambara; Mithuna, Mallur N; Suresh, Tamraparni

    2015-01-01

    Silvery hair is a common feature of Chediak-Higashi syndrome (CHS), Griscelli syndrome, and Elejalde syndrome. CHS is a rare autosomal recessive disorder characterized by partial oculocutaneous albinism, frequent pyogenic infections, and the presence of abnormal large granules in leukocytes and other granule containing cells. A 6-year-old girl had recurrent respiratory infections, speckled hypo- and hyper-pigmentation over exposed areas, and silvery hair since early childhood. Clinical features, laboratory investigations, hair microscopy, and skin biopsy findings were consistent with CHS. Her younger sisters aged 4 and 2 years had similar clinical, peripheral blood picture, and hair microscopy findings consistent with CHS. This case is reported for its rare occurrence in all the three siblings of the family, prominent pigmentary changes, and absent accelerated phase till date. Awareness, early recognition, and management of the condition may prevent the preterm morbidity associated. PMID:26622160

  12. A Case of Femoral Arteriovenous Fistula Causing High-Output Cardiac Failure, Originally Misdiagnosed as Chronic Fatigue Syndrome

    Directory of Open Access Journals (Sweden)

    J. Porter

    2014-01-01

    Full Text Available Percutaneous arterial catheterisation is commonly undertaken for a range of diagnostic and interventional procedures. Iatrogenic femoral arteriovenous fistulas are an uncommon complication of these procedures. Most are asymptomatic and close spontaneously, but can rarely increase in size leading to the development of symptoms. We report a case of an iatrogenic femoral arteriovenous fistula, causing worsening congestive cardiac failure, in a 34-year-old marathon runner. This was originally diagnosed as chronic fatigue syndrome. Following clinical examination, duplex ultrasound, and CT angiography a significant arteriovenous fistula was confirmed. Elective open surgery was performed, leading to a dramatic and rapid improvement in symptoms. Femoral arteriovenous fistulas have the potential to cause significant haemodynamic effects and can present many years after the initial procedure. Conservative, endovascular, and open surgical management strategies are available.

  13. Ectrodactyly ectodermal dysplasia clefting (EEC) syndrome: a rare cause of congenital lacrimal anomalies.

    Science.gov (United States)

    Elmann, Solly; Hanson, Sarah A; Bunce, Christopher N; Shinder, Roman

    2015-01-01

    A 9-year-old girl with a medical history significant for ectrodactyly ectodermal dysplasia clefting (EEC) syndrome was referred for evaluation of congenital left-sided epiphora. The patient had undergone successful right external dacryocystorhinostomy at age 5 to treat congenital right-sided epiphora. On examination, several ocular anomalies were noted, including absence of the upper eyelid puncta, absence of the left inferior punctum, a left lacrimal fistula opening at the left caruncle, increased left tear lake, bilateral hypoplastic meibomian glands, mild conjunctival injection, and thin eyelid cilia and brow hair. Systemic findings included cleft lip and palate status-post repair, ectrodactyly of the hands and feet, adontia and microdontia, a pointed nose, and lightly pigmented, dry hair and skin. The patient underwent examination under anesthesia and left conjunctivodacryocystorhinostomy with insertion of a Jones tube with resolution of lacrimation postoperatively. To the authors' knowledge, this is the second report detailing management of congenital lacrimal anomalies in EEC syndrome, and the first describing management of punctal atresia with conjunctivodacryocystorhinostomy and Jones tube placement. PMID:24801258

  14. Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations.

    Science.gov (United States)

    Tanigawa, Junpei; Kaneko, Kaori; Honda, Masakazu; Harashima, Hiroko; Murayama, Kei; Wada, Takahito; Takano, Kyoko; Iai, Mizue; Yamashita, Sumimasa; Shimbo, Hiroko; Aida, Noriko; Ohtake, Akira; Osaka, Hitoshi

    2012-11-01

    We report two patients with Leigh syndrome that showed a combination of facial dysmorphism and MRI imaging indicating an SURF1 deficiency, which was confirmed by sequence analysis. Case 1 is a 3-year-old girl with failure to thrive and developmental delay. She presented with tachypnea at rest and displayed facial dysmorphism including frontal bossing, lateral displacement of inner canthi, esotropia, maxillary hypoplasia, slightly upturned nostril, and hypertrichosis dominant on the forehead and extremities. Case 2 is an 8-year-old boy with respiratory failure. He had been diagnosed as selective complex IV deficiency. Case 2 displayed facial dysmorphism and hypertrichosis. Since both patients displayed characteristic facial dysmorphism and MRI findings, we sequenced the SURF1 gene and identified two heterozygous mutations; c.49+1 G>T and c.752_753del in Case 1, and homozygous c.743 C>A in Case 2. For patients with Leigh syndrome showing these facial dysmorphism and hypertrichosis, sequence analysis of the SURF1 gene may be useful. PMID:22410471

  15. [Syndrome Leigh caused by mutations in the SURF1 gene: clinical and molecular-genetic characteristics].

    Science.gov (United States)

    Tsygankova, P G; Mikhaĭlova, S V; Zakharova, E Iu; Pichkur, N A; Il'ina, E S; Nikolaeva, E A; Rudenskaia, G E; Dadali, E L; Kolpakchi, L M; Fedoniuk, I D; Matiushchenko, G N

    2010-01-01

    Syndrome Leigh (SL) or subacute necrotizing encephalomyelopathy - is a rare hereditary genetically heterogeneous disease from the group of mitochondrial encephalomyopathies. Twenty-seven children with SL were examined using clinical, laboratory (measuring lactate levels), MRI and molecular-genetic (polymerase chain reaction genotyping of 9 exons of the SURF1 gene) studies. The mean age of manifestation was 11,6 months. The main manifestations of SL were: delay of psychomotor development, diffuse muscle hypertonic, cerebellar syndrome, ophthalmoparesis, hypertrichosis. The disease had a progressive course with the loss of acquired skills. The blood lactate concentration was increased on average up to 3,1 mM/ml (from 1,9 to 5,1 mM/ml) compared to normal values (1,8 mM/ml). Brain MRI revealed the subcortical and cortical atrophy (80% of cases), symmetrical distinctly delineated hyperintense lesions on T2-weighted images (demyelization) in the basal ganglia and the brain stem (50%), as well as in the cerebellum (25%). Genotyping identified 7 different mutations. The most frequent (64,8%) was the deletion of 2 nucleotides (845delCT) in exon 8 that was in line with early data of Polish researchers thus indicating the Slavic origin of this mutation. Other mutations (574-575insCTGT, 311-321del10insAT and IVS8-1G>) were also frequent in the Russian population. PMID:20436434

  16. Primary neuroendocrine carcinoma of thymus: A rare cause of Cushing′s syndrome

    Directory of Open Access Journals (Sweden)

    Arora Raman

    2010-01-01

    Full Text Available Thymomas constitute majority of the thymic neoplasms. In contrast, neuroendocrine tumors (carcinoid and neuroendocrine carcinoma of thymus are extremely rare. Thymic carcinoids may present rarely with Cushing′s syndrome due to the ectopic production of adrenocorticotropic hormone (ACTH. Recognition of this association is imperative for appropriate management of patients. We describe three cases of rare atypical carcinoid tumor (neuroendocrine carcinoma of the thymus. Case 1, of a 26-year-old man presenting with Cushing′s syndrome, case 2 - a 23-year-old female with Cushingoid features, and Case 3 - a 39-year-old man complaining of progressively worsening dyspnea. Computed tomography (CT scans of chest in all three patients revealed anterior mediastinal mass. Excision of tumors and histological examination of the three tumors showed a carcinoid tumor with nuclear pleomorphism, increased mitotic activity and focal necrosis. The features suggested a diagnosis of atypical carcinoid tumor in all the three cases. The tumor cells in Cases 1 and 2 showed focal immunohistochemical staining for ACTH. Atypical carcinoid (neuroendocrine carcinoma, well-differentiated and moderately-differentiated of the thymus is a rare thymic tumor which carries a worse prognosis compared to thymoma and requires aggressive therapy. Hence, an accurate diagnosis is essential.

  17. Clostridium sordellii as a Cause of Fatal Septic Shock in a Child with Hemolytic Uremic Syndrome

    Directory of Open Access Journals (Sweden)

    Rebekah Beyers

    2014-01-01

    Full Text Available Clostridium sordellii is a toxin producing ubiquitous gram-positive anaerobe, mainly associated with trauma, soft tissue skin infections, and gynecologic infection. We report a unique case of a new strain of Clostridium sordellii (not present in the Center for Disease Control (CDC database infection induced toxic shock syndrome in a previously healthy two-year-old male with colitis-related hemolytic uremic syndrome (HUS. The patient presented with dehydration, vomiting, and bloody diarrhea. He was transferred to the pediatric critical care unit (PICU for initiation of peritoneal dialysis (PD. Due to increased edema and intolerance of PD, he was transitioned to hemodialysis through a femoral vascular catheter. He subsequently developed severe septic shock with persistent leukocytosis and hypotension, resulting in subsequent death. Stool culture confirmed Shiga toxin producing Escherichia coli 0157:H7. A blood culture was positively identified for Clostridium sordellii. Clostridium sordelli is rarely reported in children; to our knowledge this is the first case described in a pediatric patient with HUS.

  18. MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome.

    Science.gov (United States)

    Naess, Karin; Freyer, Christoph; Bruhn, Helene; Wibom, Rolf; Malm, Gunilla; Nennesmo, Inger; von Döbeln, Ulrika; Larsson, Nils-Göran

    2009-05-01

    Leigh syndrome is a common clinical manifestation in children with mitochondrial disease and other types of inborn errors of metabolism. We characterised clinical symptoms, prognosis, respiratory chain function and performed extensive genetic analysis of 25 Swedish children suffering from Leigh syndrome with the aim to obtain insights into the molecular pathophysiology and to provide a rationale for genetic counselling. We reviewed the clinical history of all patients and used muscle biopsies in order to perform molecular, biochemical and genetic investigations, including sequencing the entire mitochondrial DNA (mtDNA), the mitochondrial DNA polymerase (POLGA) gene and the surfeit locus protein 1 (SURF1) gene. Respiratory chain enzyme activity measurements identified five patients with isolated complex I deficiency and five with combined enzyme deficiencies. No patient presented with isolated complex IV deficiency. Seven patients had a decreased ATP production rate. Extensive sequence analysis identified eight patients with pathogenic mtDNA mutations and one patient with mutations in POLGA. Mutations of mtDNA are a common cause of LS and mtDNA analysis should always be included in the diagnosis of LS patients, whereas SURF1 mutations are not a common cause of LS in Sweden. Unexpectedly, age of onset, clinical symptoms and prognosis did not reveal any clear differences in LS patients with mtDNA or nuclear DNA mutations. PMID:19103152

  19. An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Gräsbeck syndrome in dogs.

    Science.gov (United States)

    Fyfe, John C; Hemker, Shelby L; Venta, Patrick J; Fitzgerald, Caitlin A; Outerbridge, Catherine A; Myers, Sherry L; Giger, Urs

    2013-08-01

    Cobalamin malabsorption accompanied by selective proteinuria is an autosomal recessive disorder known as Imerslund-Gräsbeck syndrome in humans and was previously described in dogs due to amnionless (AMN) mutations. The resultant vitamin B12 deficiency causes dyshematopoiesis, lethargy, failure to thrive, and life-threatening metabolic disruption in the juvenile period. We studied 3 kindreds of border collies with cobalamin malabsorption and mapped the disease locus in affected dogs to a 2.9Mb region of homozygosity on canine chromosome 2. The region included CUBN, the locus encoding cubilin, a peripheral membrane protein that in concert with AMN forms the functional intrinsic factor-cobalamin receptor expressed in ileum and a multi-ligand receptor in renal proximal tubules. Cobalamin malabsorption and proteinuria comprising CUBN ligands were demonstrated by radiolabeled cobalamin uptake studies and SDS-PAGE, respectively. CUBN mRNA and protein expression were reduced ~10 fold and ~20 fold, respectively, in both ileum and kidney of affected dogs. DNA sequencing demonstrated a single base deletion in exon 53 predicting a translational frameshift and early termination codon likely triggering nonsense mediated mRNA decay. The mutant allele segregated with the disease in the border collie kindred. The border collie disorder indicates that a CUBN mutation far C-terminal from the intrinsic factor-cobalamin binding site can abrogate receptor expression and cause Imerslund-Gräsbeck syndrome. PMID:23746554

  20. Metabolic Syndrome

    Science.gov (United States)

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

  1. An Unusual Lesser Sac Collection Causing Gastric Outlet Obstruction with Coincidental Occurrence of Leriche's Syndrome: A Case Report.

    Science.gov (United States)

    Singla, Anand; Walia, Darshanjeet Singh; Kaur, Rishabhpreet

    2016-04-01

    Gastric outlet obstruction in adults is usually caused by pyloric stenosis secondary to peptic ulcer disease or malignancy. However, there are few other causes such as a foreign body and external compression due to pseudocyst pancreas. We present a rare aetiology of a large collection of pus in the lesser sac in our patient causing gastric outlet obstruction. A perforated peptic ulcer was suspected in our patient who had symptoms of sudden onset pain in epigastric region which was referred to back. This was followed by pain in upper abdomen, vomiting, constipation and fever for which patient was being managed conservatively before being referred to us. The CECT didn't show any leakage of contrast to the lesser sac making the possibility of healed perforation likely as all other causes were ruled out at the time of presentation to our hospital. The CECT scan ruled out other causes of gastric outlet obstruction with normal wall thickness of the stomach and duodenum along with normal looking liver, pancreas and no lymphadenopathy. The liver function tests and serum amylase were within normal limits. Along with this, there was another unrelated rare coincidental finding of aortoiliac occlusive disease termed as Leriche's syndrome. Ultrasound guided percutaneous drainage was done following which the patient's obstruction was relieved and patient was referred to the department of vascular surgery for the mangement of aortoiliac occlusive disease. PMID:27190892

  2. Herlyn-Werner-Wunderlich syndrome complicated with pyocolpos: an unusual cause of postabortal sepsis

    Directory of Open Access Journals (Sweden)

    Deepti Sharma

    2013-02-01

    Full Text Available Obstructive mullerian anomalies give rise to a spectrum of clinical presentations and are uncommon in routine gynecologic practice. The patient usually becomes symptomatic in early reproductive years. Recurrent pelvic pain, dysmenorrhoea, enlarging abdominopelvic mass and abnormal vaginal discharge are the common presenting symptoms. We describe a rare case of a mullerian anomaly getting diagnosed 13 years after attaining menarche during evaluation of postabortal sepsis. Patient presented two weeks following evacuation done for missed abortion, with acute abdominal pain, fever and foul smelling discharge per vaginum. The anomaly was identified as uterus didelphys with obstructed left hemivagina and ipsilateral renal agenesis (Herlyn-Werner-Wunderlich syndrome complicated by pyocolpos. She was successfully managed by single stage transvaginal septum resection under laparoscopic control. [Int J Reprod Contracept Obstet Gynecol 2013; 2(1.000: 88-91

  3. Von Hippel Lindau disease with metastatic pancreatic neuroendocrine tumor causing ectopic Cushing's syndrome.

    Science.gov (United States)

    Hatipoglu, Esra; Kepicoglu, Hasan; Rusen, Elif; Kabasakal, Levent; Gundogdu, Sadi; Kadioglu, Pinar

    2013-01-01

    We present a 39-year-old woman who was previously diagnosed with Von Hippel Lindau Disease (VHLD). She had surgery and radiotherapy for cranial hemangioblastoma (HA) 11 years ago and had unilateral adrenalectomy for pheochromocytoma in another hospital 6 month prior to her admission to our center. Moon face, buffalo hump, central obesity, progressive weight gain and menstrual irregularities persisted after adrenalectomy. Her laboratory results were consistent with ectopic Cushing's syndrome (ECS). A pancreatic solid mass with a nodule on the left lung were revealed upon computed tomography. In addition, Gallium-68 Somatostatin Receptor PET confirmed the pancreatic involvement and demonstrated additional lesions on the left lung and in the aortocaval lymphatic system on the right side, suggesting metastatic pancreatic neuroendocrine tumor (PNET). Peptide receptor radionuclide therapy (PRRT) with [177Lutetium-DOTA0,Tyr3] octreotate was performed on the patient, with no side effects observed. She was discharged from the hospital 10 days after the first cycle. PMID:23524618

  4. A Rare Cause of Acromegaly: Short Review of McCune Albright Syndrome

    Directory of Open Access Journals (Sweden)

    Yusuf Aydın

    2009-06-01

    Full Text Available McCune-Albright syndrome (MAS is characterized by a triad of poly/monostotic fibrous dysplasia, café-au-lait macules, and hyperfunctioning endocrinopathies, including growth hormone (GH excess. Acromegaly, as a manifestation of endocrine hyperfunction with MAS is uncommon. We report a 34-year-old man with MAS and acromegaly, in whom surgical removal of the pituitary tumour has been technically difficult because of bone deformities. A combination of a long-acting somatostatin analogue (Sandostatin LAR and external irradiation were therefore used as treatment. Acromegaly associated with MAS is very rarely seen, and has been the subject of approximately 70 published reports. We present a case of acromegaly associated with MAS and a brief survey of relevant literature. Turk Jem 2009; 13: 13-5

  5. Cronkhite-Canada Syndrome: A Rare Cause of Chronic Diarrhoea in a Young Man.

    Science.gov (United States)

    Bandyopadhyay, Dhrubajyoti; Hajra, Adrija; Ganesan, Vijayan; Kar, Suvrendu Sankar; Bhar, Debarati; Layek, Manas; Mukhopadhyay, Sabyasachi; Choudhury, Cankatika; Choudhary, Vivek; Banerjee, Prasun

    2016-01-01

    A young Indian man presented with nine-month history of chronic diarrhea, occasionally mixed with blood and intermittent colicky abdominal pain. He also complained of generalized body swelling for the last three months. On examination, he had diffuse hyperpigmentation of the skin and dystrophic nail changes. Upper and lower gastrointestinal endoscopy revealed multiple sessile polyps in the stomach, small bowel, and colon and rectum. Biopsy of polyps showed adenomatous changes with stromal edema and dilated glands. Cronkhite-Canada syndrome (CCS) was diagnosed and treated with glucocorticoids and enteral nutritional supplementation. There was an associated small intestinal bacterial overgrowth (SIBO) and stool was positive for clostridium difficile toxin. After 12 weeks of treatment, the patient achieved remission. Close correlation with clinical findings, including pertinent ectodermal abnormalities, endoscopic studies, and careful examination of biopsies will ensure a timely and correct diagnosis of CCS. PMID:26941798

  6. An inability to learn to read caused by shaken baby syndrome

    Science.gov (United States)

    Bevilacqua, Leonardo; Kuczynski, Adam; James-Galton, Merle; Leff, Alex P

    2014-01-01

    We report a 12-year-old boy who suffered from shaken baby syndrome at the age of 4 months and has been unable to learn to read even high-frequency, three-letter words, despite slow but accurate letter naming. He had a right homonymous hemianopia and evidence of impaired higher visual function, but not at a severe enough level to account for his inability to read. Speech production and reception of language were impaired for his age but at least of an order of magnitude better than his reading performance. MRI scanning revealed focal damage to the dorsal and ventral reading pathways. This case challenges the Kennard principle, a widely accepted assumption which claims that the earlier a brain injury occurs, the better the recovery. It also adds to the growing literature suggesting that early damage to multiple parts of the language learning network can result in relatively selective impairments later in life. PMID:24777081

  7. Hypothenar Hammer Syndrome Caused by Recreational Sports Activities and Muscle Anomaly in the Wrist

    International Nuclear Information System (INIS)

    A 34-year-old man with digital ischemia is reported. Angiography revealed thromboembolic occlusions of the proper digital arteries of the index, middle, and ring fingers and a tortuous ulnar artery in Guyon's canal. Though hypothenar hammer syndrome was suspected, there was no relevant occupational history. Magnetic resonance imaging and magnetic resonance angiography demonstrated an anomalous muscular sling around the ulnar artery immediately adjacent to the hook of the hamate. The ulnar artery showed mural thrombi in its tortuous segment. These findings were confirmed during operative exploration. After thrombectomy and embolectomy the involved segment of the ulnar artery was replaced by an autologous vein graft. Postoperatively there was complete resolution of the symptoms. Only during convalescence did it become clear that the patient was a passionate golfer

  8. Unusual cause of shortness of breath after surgery for thoracic outlet syndrome

    Science.gov (United States)

    Schroeder, Jonathan Ryan; Kumar, Anjan; Savage, Edward; Rahaghi, Franck F

    2012-01-01

    A 31-year-old postal worker was diagnosed with bilateral thoracic outlet syndrome and scheduled for the first of two surgeries. The first procedure involved removal of the right first cervical rib, anterior and middle scalenes. On postoperative day 4, he developed shortness of breath. Chest radiograph showed a new pleural effusion on the right. Thoracentesis revealed a yellowish-red thick effusion. Based on the initial look of the fluid it was thought to be a haemorrhagic effusion with a purulent component, further testing revealed that he had developed a chylothorax. The patient was placed on a medium-chain triglyceride diet followed by chest tube drainage. After one day, the chest tube was removed due to minimal drainage, and he was discharged home the next day. Keeping this patient without food, on total parental nutrition, or pursuing surgical intervention was not necessary, as he had an excellent outcome from a very rare surgical complication. PMID:23047993

  9. A very rare cause of acro-osteolysis: Hajdu-Cheney syndrome.

    Science.gov (United States)

    Deprouw, Camille; Feydy, Antoine; Giraudet Le Quintrec, Janine-Sophie; Ruiz, Barbara; Kahan, André; Allanore, Yannick

    2015-12-01

    Acro-osteolysis is not uncommon and occurs in several conditions. Additional clinical and paraclinical findings and sometimes the performance of molecular tests can help to clarify the diagnosis. Here, we report the case of a 36-year-old woman who was referred to our department because of acute pain in the extremity of the left index finger. However, subsequent clinical examination also revealed short digits with pseudo-clubbing related to acro-osteolysis. Furthermore, severe osteoporosis, a moderate dysmorphic face, joint hypermobility, biological variables within normal ranges and her clinical history led us to consider the diagnosis of Hajdu-Cheney syndrome. Molecular analysis confirmed the diagnosis with the identification of a mutation in the NOTCH2 gene. The patient received bisphosphonate therapy, which resulted in some clinical and biological improvement 12 months later. PMID:26184537

  10. Dilated aortic root and severe aortic regurgitation causing dilated cardiomyopathy in classic Ehlers-Danlos syndrome.

    Science.gov (United States)

    Zainal, Abir; Hamad, Mahmoud Nidal; Naqvi, Syed Yaseen

    2016-01-01

    Ehlers-Danlos syndrome (EDS) is a group of heritable disorders characterised by vast clinical heterogeneity ranging from the classic constellation of symptoms including skin hyperextensibility, joint hypermobility and skin fragility to the exceedingly critical consequences of arterial rupture and visceral perforation. We describe the case of a 65-year-old male with a history of classic EDS who reported of dyspnoea on exertion, orthopnoea, fatigue and palpitations. He was found to have dilated cardiomyopathy with an ejection fraction of 35%, aortic root dilation and severe aortic valve regurgitation. The authors intend to draw attention to the rare cardiac manifestations of this condition and the therapeutic challenges involved in managing such patients. PMID:27413024

  11. Moyamoya syndrome in sickle cell anaemia: a cause of recurrent stroke.

    Science.gov (United States)

    Soares, Deanne; Bullock, Richard; Ali, Susanna

    2014-01-01

    Summary We report a case with interesting imaging findings as well as an unfortunate but not unexpected clinical outcome. Our patient, an 8-year-old Jamaican boy of Afro-Caribbean descent with homozygous sickle cell disease, presented with left-sided upper limb weakness. He had a history of recurrent cerebrovascular accidents and transient ischaemic attacks beginning at 4 years of age. MRI revealed old bilateral infarctions and the ivy sign on fluid-attenuated inversion recovery sequences. MR angiography demonstrated numerous collaterals, most apparently arising from the left internal carotid, consistent with moyamoya syndrome. The patient had a full recovery and remained well for almost 2 years when he suffered another stroke. PMID:25178886

  12. Locked-in syndrome caused by the pressure exerted by the sound gun

    Directory of Open Access Journals (Sweden)

    Ayse Belin Ozer

    2014-01-01

    Full Text Available A 19-year-old male patient who wounded himself with a gun in the cranial region had a Glasgow coma scale of 3E. At posttraumatic day 7, locked-in syndrome was considered upon detection of vertical eye movements, meaningful winks, and quadriplegia. Apart from the classical view, computed tomography (CT and postmortem examination of the brain showed an infarct area in the cerebellum. However, vertebrobasilar artery system was normal. In this case report, we would like to present that unlike cases with ischemia, specific CT findings may not be evident in posttraumatic cases and ischemia may occur in the cerebellum as a result of the pressure exerted by a sound gun.

  13. Suppurative dacroadenitis causing ocular sicca syndrome in classic Wegener′s granulomatosis

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    Khanna Dhanita

    2011-01-01

    Full Text Available Wegener′s granulomatosis (WG is a multisystem vasculitic disorder which can commonly afflict various components of the eye. Here we describe some unusual ocular manifestations of the disease in one patient. A young male with history of upper respiratory tract symptoms including epistaxis, nasal stuffiness and maxillary sinus pain presented with bilateral lacrimal gland abscess and ptosis. Lacrimal gland biopsy revealed granulomatous vasculitis. Lung cavities, positive cytoplasmic-antineutrophil cytoplasmic antibodies and high titers of serine proteinase-3 antibodies confirmed the diagnosis of WG. The patient developed dry eyes after a month of first presentation. There was no dryness of mouth, suggesting the absence of salivary gland involvement, and antinuclear antibodies as well as antibodies against Ro and La antigens classical of primary Sjogren′s syndrome were absent. Granulomatous vasculitis of lacrimal gland leading to abscess formation and dryness of eyes has not been described in WG and reflects the aggressive nature of inflammatory process in this disease.

  14. The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome

    DEFF Research Database (Denmark)

    Dietrich, Andrea; Fernandez, Thomas V; King, Robert A;

    2015-01-01

    Tourette syndrome (TS) is a neuropsychiatric disorder characterized by recurrent motor and vocal tics, often accompanied by obsessive-compulsive disorder and/or attention-deficit/hyperactivity disorder. While the evidence for a genetic contribution is strong, its exact nature has yet to be...... is clear that large patient cohorts and open-access repositories will be essential to further advance the field. To that end, the large multicenter Tourette International Collaborative Genetics (TIC Genetics) study was established. The goal of the TIC Genetics study is to undertake a comprehensive...... gene discovery effort, focusing both on familial genetic variants with large effects within multiply affected pedigrees and on de novo mutations ascertained through the analysis of apparently simplex parent-child trios with non-familial tics. The clinical data and biomaterials (DNA, transformed cell...

  15. Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations.

    Science.gov (United States)

    Siriwardena, Komudi; Mackay, Nevena; Levandovskiy, Valeriy; Blaser, Susan; Raiman, Julian; Kantor, Paul F; Ackerley, Cameron; Robinson, Brian H; Schulze, Andreas; Cameron, Jessie M

    2013-01-01

    We report on two families with Sengers syndrome and mutations in the acylglycerol kinase gene (AGK). In the first family, two brothers presented with vascular strokes, lactic acidosis, cardiomyopathy and cataracts, abnormal muscle cell histopathology and mitochondrial function. One proband had very abnormal mitochondria with citrate synthase crystals visible in electron micrographs, associated with markedly high citrate synthase activity. Exome sequencing was used to identify mutations in the AGK gene in the index patient. Targeted sequencing confirmed the same homozygous mutation (c.3G>A, p.M1I) in the brother. The second family had four affected members, of which we examined two. They also presented with similar clinical symptoms, but no strokes. Postmortem heart and skeletal muscle tissues showed low complex I, III and IV activities in the heart, but normal in the muscle. Skin fibroblasts showed elevated lactate/pyruvate ratios and low complex I+III activity. Targeted sequencing led to identification of a homozygous c.979A>T, p.K327* mutation. AGK is located in the mitochondria and phosphorylates monoacylglycerol and diacylglycerol to lysophosphatidic acid and phosphatidic acid. Disruption of these signaling molecules affects the mitochondria's response to superoxide radicals, resulting in oxidative damage to mitochondrial DNA, lipids and proteins, and stimulation of cellular detoxification pathways. High levels of manganese superoxide dismutase protein were detected in all four affected individuals, consistent with increased free radical damage. Phosphatidic acid is also involved in the synthesis of phospholipids and its loss will result in changes to the lipid composition of the inner mitochondrial membrane. These effects manifest as cataract formation in the eye, respiratory chain dysfunction and cardiac hypertrophy in heart tissue. These two pedigrees confirm that mutation of AGK is responsible for the severe neonatal presentation of Sengers syndrome. The

  16. Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.

    Science.gov (United States)

    Gerber, Sylvie; Alzayady, Kamil J; Burglen, Lydie; Brémond-Gignac, Dominique; Marchesin, Valentina; Roche, Olivier; Rio, Marlène; Funalot, Benoit; Calmon, Raphaël; Durr, Alexandra; Gil-da-Silva-Lopes, Vera Lucia; Ribeiro Bittar, Maria Fernanda; Orssaud, Christophe; Héron, Bénédicte; Ayoub, Edward; Berquin, Patrick; Bahi-Buisson, Nadia; Bole, Christine; Masson, Cécile; Munnich, Arnold; Simons, Matias; Delous, Marion; Dollfus, Helene; Boddaert, Nathalie; Lyonnet, Stanislas; Kaplan, Josseline; Calvas, Patrick; Yule, David I; Rozet, Jean-Michel; Fares Taie, Lucas

    2016-05-01

    Gillespie syndrome (GS) is a rare variant form of aniridia characterized by non-progressive cerebellar ataxia, intellectual disability, and iris hypoplasia. Unlike the more common dominant and sporadic forms of aniridia, there has been no significant association with PAX6 mutations in individuals with GS and the mode of inheritance of the disease had long been regarded as uncertain. Using a combination of trio-based whole-exome sequencing and Sanger sequencing in five simplex GS-affected families, we found homozygous or compound heterozygous truncating mutations (c.4672C>T [p.Gln1558(∗)], c.2182C>T [p.Arg728(∗)], c.6366+3A>T [p.Gly2102Valfs5(∗)], and c.6664+5G>T [p.Ala2221Valfs23(∗)]) and de novo heterozygous mutations (c.7687_7689del [p.Lys2563del] and c.7659T>G [p.Phe2553Leu]) in the inositol 1,4,5-trisphosphate receptor type 1 gene (ITPR1). ITPR1 encodes one of the three members of the IP3-receptors family that form Ca(2+) release channels localized predominantly in membranes of endoplasmic reticulum Ca(2+) stores. The truncation mutants, which encompass the IP3-binding domain and varying lengths of the modulatory domain, did not form functional channels when produced in a heterologous cell system. Furthermore, ITPR1 p.Lys2563del mutant did not form IP3-induced Ca(2+) channels but exerted a negative effect when co-produced with wild-type ITPR1 channel activity. In total, these results demonstrate biallelic and monoallelic ITPR1 mutations as the underlying genetic defects for Gillespie syndrome, further extending the spectrum of ITPR1-related diseases. PMID:27108797

  17. The prevalence and etiology of polycystic ovarian syndrome (PCOS as a cause of female infertility in central Travancore

    Directory of Open Access Journals (Sweden)

    K. Roy George

    2014-03-01

    Full Text Available Recent alarming rise in the incidence of polycystic ovary syndrome (PCOS, the most common cause of female infertility is becoming a major concern among adolescent women worldwide. Altered hormonal and metabolic profiles are one of the common clinical manifestations in PCOS. The aim of the present study was to determine the prevalence and the etiology of polycystic ovary syndrome (PCOS as a cause of female infertility in Central Travancore women, in view of their change in life style. In this cross sectional study, a consecutive series of 500 women (20-35 who were subjected to infertility treatment at specialist infertility clinics in Kottayam, Pathanamthitta and Alappuzha districts were selected. About 20 healthy volunteer females with regular menstrual cycles aged between 20 to 35 years were considered as the control. The data were collected from hospital records as well as using an investigator administered questionnaire. All data were tabulated and were subjected to statistical analysis using student’s‘t’ test, ANOVA and correlation. According to the findings of this study, PCOS is one of the most common causes of female infertility in Central Travancore women due to change in life style factors and unhealthy dietary patterns. The PCOS patients in our study also showed a wide range of hormonal and metabolic abnormalities. Insulin, FSH, LH, LH: FSH ratio, testosterone, prolactin, thyroxin (T4 , progesterone, glucose and cholesterol levels were increased in PCOS. The adoption of their unhealthy dietary habits and lack of exercise are key to improving chances of these hormonal and metabolic imbalances and increasing risks of PCOS among them.

  18. Psychological stress and 30-day all-cause hospital readmission in acute coronary syndrome patients: an observational cohort study.

    Directory of Open Access Journals (Sweden)

    Donald Edmondson

    Full Text Available BACKGROUND: Many acute coronary syndrome (ACS; myocardial infarction and unstable angina patients are rehospitalized within 30 days of discharge, and recent US health policy initiatives have tied hospital Medicare reimbursement to 30-day readmission rates. Patient-perceived psychological stress is thought to impact prognosis after ACS. A recently offered "posthospital syndrome" model of 30-day readmissions posits that the stress level at the time of the index hospitalization itself may increase 30-day risk for readmission in ACS patients. We tested whether self-reported stress in the days surrounding the ACS hospitalization was associated with increased risk for readmission within 30 days. METHODS: A mean of 8.5 days after discharge, 342 consecutively hospitalized ACS patients reported on how often they felt stress during the past two weeks. Readmission within 30 days of hospital discharge for any cause was determined by follow-up telephone calls to patients and confirmed by hospital records. RESULTS: Overall, 40 (11.7% participants were readmitted within 30 days, and 22 (6.4% reported high stress. Readmission within 30 days was more common in patients with high stress (5 admissions, 23% than in patients with low stress (35 admissions, 11%. After adjustment for demographic and clinical factors, as well as depression, high stress was associated with a 3-fold increased risk of 30-day readmission (HR = 3.21, 95% CI = 1.13, 9.10. CONCLUSIONS: Previous research has shown that stress in the days surrounding a hospitalization can mark long-term cardiovascular risk, but this is the first study to test a hypothesis of the posthospital syndrome model of early readmission. Further research is needed to confirm the association between stress and readmission risk, and to identify the processes of hospitalization that could be modified to both reduce the stress experienced and that would also be effective for reducing readmissions.

  19. De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.

    Science.gov (United States)

    Lugtenberg, Dorien; Reijnders, Margot R F; Fenckova, Michaela; Bijlsma, Emilia K; Bernier, Raphael; van Bon, Bregje W M; Smeets, Eric; Vulto-van Silfhout, Anneke T; Bosch, Danielle; Eichler, Evan E; Mefford, Heather C; Carvill, Gemma L; Bongers, Ernie M H F; Schuurs-Hoeijmakers, Janneke Hm; Ruivenkamp, Claudia A; Santen, Gijs W E; van den Maagdenberg, Arn M J M; Peeters-Scholte, Cacha M P C D; Kuenen, Sabine; Verstreken, Patrik; Pfundt, Rolph; Yntema, Helger G; de Vries, Petra F; Veltman, Joris A; Hoischen, Alexander; Gilissen, Christian; de Vries, Bert B A; Schenck, Annette; Kleefstra, Tjitske; Vissers, Lisenka E L M

    2016-08-01

    Recently WAC was reported as a candidate gene for intellectual disability (ID) based on the identification of a de novo mutation in an individual with severe ID. WAC regulates transcription-coupled histone H2B ubiquitination and has previously been implicated in the 10p12p11 contiguous gene deletion syndrome. In this study, we report on 10 individuals with de novo WAC mutations which we identified through routine (diagnostic) exome sequencing and targeted resequencing of WAC in 2326 individuals with unexplained ID. All but one mutation was expected to lead to a loss-of-function of WAC. Clinical evaluation of all individuals revealed phenotypic overlap for mild ID, hypotonia, behavioral problems and distinctive facial dysmorphisms, including a square-shaped face, deep set eyes, long palpebral fissures, and a broad mouth and chin. These clinical features were also previously reported in individuals with 10p12p11 microdeletion syndrome. To investigate the role of WAC in ID, we studied the importance of the Drosophila WAC orthologue (CG8949) in habituation, a non-associative learning paradigm. Neuronal knockdown of Drosophila CG8949 resulted in impaired learning, suggesting that WAC is required in neurons for normal cognitive performance. In conclusion, we defined a clinically recognizable ID syndrome, caused by de novo loss-of-function mutations in WAC. Independent functional evidence in Drosophila further supported the role of WAC in ID. On the basis of our data WAC can be added to the list of ID genes with a role in transcription regulation through histone modification. PMID:26757981

  20. Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.

    Science.gov (United States)

    Coppieters, Frauke; Ascari, Giulia; Dannhausen, Katharina; Nikopoulos, Konstantinos; Peelman, Frank; Karlstetter, Marcus; Xu, Mingchu; Brachet, Cécile; Meunier, Isabelle; Tsilimbaris, Miltiadis K; Tsika, Chrysanthi; Blazaki, Styliani V; Vergult, Sarah; Farinelli, Pietro; Van Laethem, Thalia; Bauwens, Miriam; De Bruyne, Marieke; Chen, Rui; Langmann, Thomas; Sui, Ruifang; Meire, Françoise; Rivolta, Carlo; Hamel, Christian P; Leroy, Bart P; De Baere, Elfride

    2016-08-01

    Inherited retinal dystrophies (iRDs) are a group of genetically and clinically heterogeneous conditions resulting from mutations in over 250 genes. Here, homozygosity mapping and whole-exome sequencing (WES) in a consanguineous family revealed a homozygous missense mutation, c.973C>T (p.His325Tyr), in RCBTB1. In affected individuals, it was found to segregate with retinitis pigmentosa (RP), goiter, primary ovarian insufficiency, and mild intellectual disability. Subsequent analysis of WES data in different cohorts uncovered four additional homozygous missense mutations in five unrelated families in whom iRD segregates with or without syndromic features. Ocular phenotypes ranged from typical RP starting in the second decade to chorioretinal dystrophy with a later age of onset. The five missense mutations affect highly conserved residues either in the sixth repeat of the RCC1 domain or in the BTB1 domain. A founder haplotype was identified for mutation c.919G>A (p.Val307Met), occurring in two families of Mediterranean origin. We showed ubiquitous mRNA expression of RCBTB1 and demonstrated predominant RCBTB1 localization in human inner retina. RCBTB1 was very recently shown to be involved in ubiquitination, more specifically as a CUL3 substrate adaptor. Therefore, the effect on different components of the CUL3 and NFE2L2 (NRF2) pathway was assessed in affected individuals' lymphocytes, revealing decreased mRNA expression of NFE2L2 and several NFE2L2 target genes. In conclusion, our study puts forward mutations in RCBTB1 as a cause of autosomal-recessive non-syndromic and syndromic iRD. Finally, our data support a role for impaired ubiquitination in the pathogenetic mechanism of RCBTB1 mutations. PMID:27486781

  1. Identification of novel mutation in cathepsin C gene causing Papillon-Lefèvre Syndrome in Mexican patients

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    Romero-Quintana José G

    2013-01-01

    Full Text Available Abstract Background Papillon-Lefèvre Syndrome (PLS is a type IV genodermatosis caused by mutations in cathepsin C (CTSC, with a worldwide prevalence of 1–4 cases per million in the general population. In México, the prevalence of this syndrome is unknown, and there are few case reports. The diagnosis of twenty patients in the state of Sinaloa highlights the need to characterize this syndrome in Mexicans. Methods To understand the basis of PLS in Mexicans, the gene expression, enzymatic activity and mutational analysis of CTSC were assayed in nine PLS patients and their relatives. Frequencies of CTSC gene polymorphisms and HLA alleles were determined in these patients, their relatives, and the population. Results Patients showed normal CTSC gene expression, but a deep reduction (up to 85% in enzymatic activity in comparison to unrelated healthy individuals. A novel loss-of-function mutation, c.203 T >; G (p.Leu68Arg, was found in all patients, and some carried the polymorphism c.458C >; T (p.Thr153Ile. Allelic frequencies in patients, relatives and controls were 88.89%, 38.24% and 0.25% for G (c.203 T >; G; and 11.11%, 8.82% and 9.00% for T (c.458C >; T. HLA-DRB1*11 was found significantly more frequent (P = 0.0071 in patients than controls (33.33% vs. 7.32%, with an estimated relative risk of 6.33. Conclusions The novel loss-of function mutation of CTSC gene (c.203 T >; G found in patients correlated with their diminished enzymatic activity, and HLA-DRB1*11 was found to be associated with PLS. The study of more PLS patients may give more insights into the etiology of the disease as well as its prevalence in México.

  2. Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).

    OpenAIRE

    Hoth, C F; Milunsky, A; Lipsky, N; Sheffer, R; Clarren, S K; Baldwin, C T

    1993-01-01

    Waardenburg syndrome type I (WS-I) is an autosomal dominant disorder characterized by sensorineural hearing loss, dystopia canthorum, pigmentary disturbances, and other developmental defects. Klein-Waardenburg syndrome (WS-III) is a disorder with many of the same characteristics as WS-I and includes musculoskeletal abnormalities. We have recently reported the identification and characterization of one of the first gene defects, in the human PAX3 gene, which causes WS-I. PAX3 is a DNA-binding ...

  3. Intrathecal baclofen withdrawal syndrome caused by low residual volume in the pump reservoir: a report of 2 cases.

    Science.gov (United States)

    Rigoli, Gianfranco; Terrini, Giovanni; Cordioli, Zeno

    2004-12-01

    Intrathecal baclofen (ITB) is an effective treatment for spasticity caused by spinal or cerebral pathologies. Severe withdrawal symptoms can result, however, if ITB is abruptly withdrawn as a result of equipment malfunctions or human error. We describe 2 cases of severe ITB withdrawal syndrome. In the first case, the symptoms appeared 5 months after pump placement, when residual volume was 2.0 mL; in the second case, symptoms appeared 2 months after the replacement of a new pump, when residual volume was 0.9 mL. In both cases, there was no evidence of system malfunction or human error. The syndrome occurred from up to 72 hours before the scheduled refilling procedure, and the residual volume in the Medtronic SynchroMed EL pump reservoir was either at, or significantly lower than, the recommended 2 mL. These cases suggest that the SynchroMed EL pump reservoir should be refilled, to avoid potentially serious consequences, when the residual volume is not lower than 3 mL by programming the alarm to sound at a volume larger than the recommended 2 mL. PMID:15605349

  4. Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early onset autoinflammatory syndrome

    Science.gov (United States)

    Zhou, Qing; Wang, Hongying; Schwartz, Daniella M.; Stoffels, Monique; Park, Yong Hwan; Zhang, Yuan; Yang, Dan; Demirkaya, Erkan; Takeuchi, Masaki; Tsai, Wanxia Li; Lyons, Jonathan J.; Yu, Xiaomin; Ouyang, Claudia; Chen, Celeste; Chin, David T.; Zaal, Kristien; Chandrasekharappa, Settara C.; Hanson, Eric P.; Yu, Zhen; Mullikin, James C.; Hasni, Sarfaraz A.; Wertz, Ingrid; Ombrello, Amanda K.; Stone, Deborah L.; Hoffmann, Patrycja; Jones, Anne; Barham, Beverly K.; Leavis, Helen L.; van Royen-Kerkof, Annet; Sibley, Cailin; Batu, Ezgi D.; Gül, Ahmet; Siegel, Richard M.; Boehm, Manfred; Milner, Joshua D.; Ozen, Seza; Gadina, Massimo; Chae, JaeJin; Laxer, Ronald M.; Kastner, Daniel L.; Aksentijevich, Ivona

    2016-01-01

    Systemic autoinflammatory diseases are driven by abnormal activation of innate immunity1. Herein we describe a new syndrome caused by high penetrance heterozygous germline mutations in the NFκB regulatory protein TNFAIP3 (A20) in six unrelated families with early onset systemic inflammation. The syndrome resembles Behçet’s disease (BD), which is typically considered a polygenic disorder with onset in early adulthood2. A20 is a potent inhibitor of the NFκB signaling pathway3. TNFAIP3 mutant truncated proteins are likely to act by haploinsufficiency since they do not exert a dominant-negative effect in overexpression experiments. Patients’ cells show increased degradation of IκBα and nuclear translocation of NFκB p65, and increased expression of NFκB-mediated proinflammatory cytokines. A20 restricts NFκB signals via deubiquitinating (DUB) activity. In cells expressing the mutant A20 protein, there is defective removal of K63-linked ubiquitin from TRAF6, NEMO, and RIP1 after TNF stimulation. NFκB-dependent pro-inflammatory cytokines are potential therapeutic targets for these patients. PMID:26642243

  5. Follow-up after acute respiratory distress syndrome caused by influenza a (H1N1 virus infection

    Directory of Open Access Journals (Sweden)

    Carlos Toufen Jr.

    2011-01-01

    Full Text Available BACKGROUND: There are no reports on the long-term follow-up of patients with swine-origin influenza A virus infection that progressed to acute respiratory distress syndrome. METHODS: Four patients were prospectively followed up with pulmonary function tests and high-resolution computed tomography for six months after admission to an intensive care unit. RESULTS: Pulmonary function test results assessed two months after admission to the intensive care unit showed reduced forced vital capacity in all patients and low diffusion capacity for carbon monoxide in two patients. At six months, pulmonary function test results were available for three patients. Two patients continued to have a restrictive pattern, and none of the patients presented with abnormal diffusion capacity for carbon monoxide. All of them had a diffuse ground-glass pattern on high-resolution computed tomography that improved after six months. CONCLUSIONS: Despite the marked severity of lung disease at admission, patients with acute respiratory distress syndrome caused by swine-origin influenza A virus infection presented a late but substantial recovery over six months of follow-up.

  6. Nonconvulsive status epilepticus--a possible cause of mental retardation in patients with Lennox-Gastaut syndrome.

    Science.gov (United States)

    Hoffmann-Riem, M; Diener, W; Benninger, C; Rating, D; Unnebrink, K; Stephani, U; Ernst, H P; Korinthenberg, R

    2000-08-01

    Lennox-Gastaut syndrome (LGS) is one of the most severe types of childhood epilepsy. It is usually resistant to treatment and associated with mental retardation. To delineate the risk factors associated with the outcome of LGS, we evaluated, in a retrospective and multicentre study, the course of the disease, EEG tracings, and intellectual function in 101 patients. Inclusion criteria were the presence of tonic seizures as well as slow spike and wave complexes in the EEG. The average documented observation period was 16 years (range 4-31 years). Overall, the intellectual and neurological outcome was poor. At the last follow-up, 38% of the patients could not speak, 21% were unable to walk and only 4% were free of seizures. Four independent risk factors for severe mental retardation were identified by multivariate analysis. These were in a decreasing order of importance: nonconvulsive status epilepticus (NCSE), odds ratio (OR) 25.2, a previous diagnosis of West syndrome (OR 11.6), a symptomatic etiology of epilepsy (OR 9.5), and an early age at onset of epilepsy (OR 4.7). The results highlight the association between NCSE and the severity of mental retardation in patients with LGS; this association appears to be independent of symptomatic etiology. Our data provide an indirect evidence that, at least in some of the patients, NCSE is not only a concomitant feature, but also a cause of severe mental retardation. PMID:11071139

  7. An unusual cause for recurrent perianal sepsis in Currarino syndrome: Case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Tarryn Gabler

    2016-04-01

    Full Text Available Currarino syndrome (CS is a rare symptom complex comprising an anorectal malformation, a sacral bone abnormality and a presacral mass. Recurrent sepsis of the perianal area is a well-described post-operative morbidity. We report the case of a 4-year-old boy with CS and chronic perianal sepsis in the form of a draining sinus at the level of S5, which had plagued him since removal of a benign sacrococcygeal teratoma at the age of 1 year. Normal alfa feto protein and beta-human chorionic gonadotropin levels ruled out malignant recurrence of a sacrococcygeal teratoma, whilst an MRI showed a large presacral abscess with no fistulous connection to the rectum. Biopsy and drainage of the abscess was performed through a posterior sagittal approach and pus was sent for microscopy, culture and sensitivity. Microscopy demonstrated the presence of acid-fast bacilli, confirming infection with Mycobacterium tuberculosis (TB. A review of the literature revealed paucity in the documentation of microbes related to this common complication with no previous reports of TB as the aetiological pathogen. This case is of particular interest as the patient was not immunocompromised, had no TB contacts or history of previous TB infection, and highlights the importance of actively excluding the cause of recurrent perianal sepsis, particularly in syndromes where sepsis is a common complication.

  8. Allopurinol inappropriate use in case of asymptomatic hyperuricemic patient causes fatal Allopurinol hypersensitive syndrome: lesson to all

    Directory of Open Access Journals (Sweden)

    Arvind Kumar

    2015-12-01

    Full Text Available Allopurinol is used to treat hyperuricemia (HU in a patient of gout. It is also used to prevent HU in a patient of hematological malignancies who are about to undergo chemotherapy. Allopurinol is usually well-tolerated but it occasionally induces hypersensitivity reactions that manifest after few months of therapy. Cutaneous reactions are pruritic, erythematous, or maculopapular eruptions. Rarely fatal toxic epidermal necrolysis or Stevens-Johnson syndrome may occur. Transient leukopenia or leukocytosis, eosinophilia and elevated transaminases may also occur. HU is not a disease in itself. Its level is highly variable in the general population. Uric acid level is influenced by many factors such as dietary intake of proteins, hypertension, and obesity. Only very rarely patients of AHU may progress to gout and renal stones. Not much data is available that support HU alone in an asymptomatic patient in later life shows the diseases which are associated with HU. Sometimes only lifestyle changes, diet restrictions, alcohol restrictions, and treatment of underlying acquired cause may correct HU. Here, we are presenting a rare case of allopurinol hypersensitivity syndrome in an AHU patient. Our aim is to raise awareness among physicians so that they avoid using unnecessarily allopurinol in AHU patients and also titrate the dose of allopurinol in patients of renal failure. Risk-benefit ratio must be considered in these patients before starting allopurinol. [Int J Basic Clin Pharmacol 2015; 4(6.000: 1302-1304

  9. [Pituitary syndrome caused by neoplasia in a 17-month-old Holstein Friesian heifer].

    Science.gov (United States)

    Wippermann, Wolf; Schöniger, Sandra; Gerlach, Kerstin; Schusser, Gerald Fritz; Köller, Gabor; Starke, Alexander

    2016-06-16

    A 17-month-old Holstein Friesian heifer was presented after one day with dysphagia, slight paralysis of the tongue and swelling of the eyelids. Clinical examination of the animal revealed an extended posture of the head and neck, severely increased salivation, reduced lingual tone and mandibular paralysis with complete absence of the swallowing reflex. The right eye showed a drooping eyelid, mucopurulent discharge, exposure keratitis, corneal opacity and miosis. On the left side, a moderate exophthalmos and slight mucous discharge from the nostril were observed. Neurological examination revealed the absence of multiple cranial nerve reflexes suggesting a pituitary syndrome. On X-rays, a soft-tissue opacity with sharp margins and a diameter of approximately 5 cm was seen. It was located ventral to the ethmoid bone with possible intraneurocranial origin. Rhinoscopically, a mass located distal to the ethmoid bone with an uneven, slightly reddish surface partly covered by purulent exudate was visualised. Post-mortem examination of the euthanized animal confirmed neoplasia, which ranged from the fossa hypophysialis of the corpus ossis basisphenoidalis to the ethmoid bone. Histopathologic findings matched a small, round, blue cell tumour. PMID:27172846

  10. Duplication of the TGFBR1 gene causes features of Loeys-Dietz syndrome.

    Science.gov (United States)

    Breckpot, Jeroen; Budts, Werner; De Zegher, Francis; Vermeesch, Joris R; Devriendt, Koenraad

    2010-01-01

    Loeys-Dietz syndrome (LDS; OMIM:609192) is an autosomal dominant disorder characterized by hypertelorism, bifid uvula or cleft palate, and arterial tortuosity with widespread vascular aneurysms and a high risk of aortic dissection at an early age. LDS results from mutations in the transforming growth factor beta-receptor I and II (TGFBR1 and TGFBR2) genes, altering the transmission of the subcellular TGF-β signal, mediated by increased activation of Smad2. We report on a 17-year-old boy with pubertas tarda, a bifid uvula, camptodactyly and facial dysmorphic features, suggestive of LDS. Mutation analysis of TGFBR1 and TGFBR2 was normal. By means of molecular karyotyping two previously unreported chromosomal imbalances were detected: a 120 kb deletion on chromosome 22q13.31q13.32, inherited from an unaffected parent, and a de novo 14.6 Mb duplication on chromosome 9q22.32q31.3, comprising TGFBR1. We hypothesize that copy number gain of TGFBR1 contributes to the phenotype. PMID:20813212

  11. Laguna Negra Virus Infection Causes Hantavirus Pulmonary Syndrome in Turkish Hamsters (Mesocricetus brandti).

    Science.gov (United States)

    Hardcastle, K; Scott, D; Safronetz, D; Brining, D L; Ebihara, H; Feldmann, H; LaCasse, R A

    2016-01-01

    Laguna Negra virus (LNV) is a New World hantavirus associated with severe and often fatal cardiopulmonary disease in humans, known as hantavirus pulmonary syndrome (HPS). Five hamster species were evaluated for clinical and serologic responses following inoculation with 4 hantaviruses. Of the 5 hamster species, only Turkish hamsters infected with LNV demonstrated signs consistent with HPS and a fatality rate of 43%. Clinical manifestations in infected animals that succumbed to disease included severe and rapid onset of dyspnea, weight loss, leukopenia, and reduced thrombocyte numbers as compared to uninfected controls. Histopathologic examination revealed lung lesions that resemble the hallmarks of HPS in humans, including interstitial pneumonia and pulmonary edema, as well as generalized infection of endothelial cells and macrophages in major organ tissues. Histologic lesions corresponded to the presence of viral antigen in affected tissues. To date, there have been no small animal models available to study LNV infection and pathogenesis. The Turkish hamster model of LNV infection may be important in the study of LNV-induced HPS pathogenesis and development of disease treatment and prevention strategies. PMID:25722219

  12. Proximal tibiofibular synostosis as a possible cause of a pseudoradicular syndrome: a case report.

    Science.gov (United States)

    van Ooij, Bas; van Ooij, André; Morrenhof, J Wim; van Dijk, C Niek

    2011-12-01

    This paper presents a case report of persistent low back pain and suspected lumbar radiculopathy. A synostosis at the level of the proximal tibiofibular joint was diagnosed. After successful resection of the synostosis, the low back symptoms resolved completely. This is the first report of a proximal tibiofibular synostosis as a possible cause of referred pain proximally. PMID:21222100

  13. Proximal tibiofibular synostosis as a possible cause of a pseudoradicular syndrome: a case report

    OpenAIRE

    van Ooij, Bas; van Ooij, André; Morrenhof, J. Wim; van Dijk, C. Niek

    2011-01-01

    This paper presents a case report of persistent low back pain and suspected lumbar radiculopathy. A synostosis at the level of the proximal tibiofibular joint was diagnosed. After successful resection of the synostosis, the low back symptoms resolved completely. This is the first report of a proximal tibiofibular synostosis as a possible cause of referred pain proximally.

  14. Metastatic squamous cell carcinoma in the neck presenting with Horner syndrome - a cause of the condition not previously described.

    Science.gov (United States)

    Alam, Peyman; Sloane, James; Koraitim, Mohamed; Brennan, Peter A

    2016-07-01

    Horner syndrome, a combination of pupillary miosis, ptosis and facial anhidrosis, results from damage to the oculosympathetic nerve pathways. It can occur anywhere from the hypothalamus to the eye, but to our knowledge, metastatic disease to a node in the neck from a mucosal squamous cell carcinoma (SCC) of the head and neck has not previously been reported as a primary cause in humans. It is surprising that it does not present more often given the frequency of metastatic disease in the neck. We discuss how it may have occurred, and highlight the importance of a thorough examination and investigation of the head and neck in patients who present with unusual neurological signs. PMID:26689637

  15. A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.

    Science.gov (United States)

    You, Jing; Sobreira, Nara L; Gable, Dustin L; Jurgens, Julie; Grange, Dorothy K; Belnap, Newell; Siniard, Ashley; Szelinger, Szabolcs; Schrauwen, Isabelle; Richholt, Ryan F; Vallee, Stephanie E; Dinulos, Mary Beth P; Valle, David; Armanios, Mary; Hoover-Fong, Julie

    2016-05-01

    The proteins encoded by TELO2, TTI1, and TTI2 interact to form the TTT complex, a co-chaperone for maturation of the phosphatidylinositol 3-kinase-related protein kinases (PIKKs). Here we report six affected individuals from four families with intellectual disability (ID) and neurological and other congenital abnormalities associated with compound heterozygous variants in TELO2. Although their fibroblasts showed reduced steady-state levels of TELO2 and the other components of the TTT complex, PIKK functions were normal in cellular assays. Our results suggest that these TELO2 missense variants result in loss of function, perturb TTT complex stability, and cause an autosomal-recessive syndromic form of ID. PMID:27132593

  16. Alteration of the intestinal microbiota as a cause of and a potential therapeutic option in irritable bowel syndrome.

    Science.gov (United States)

    König, J; Brummer, R J

    2014-09-01

    The intestinal microbiota forms a complex ecosystem that is in close contact with its host and has an important impact on health. An increasing number of disorders are associated with disturbances in this ecosystem. Also patients suffering from irritable bowel syndrome (IBS) show an altered composition of their gut microbiota. IBS is a multifactorial chronic disorder characterised by various abdominal complaints and a worldwide prevalence of 10-20%. Even though its aetiology and pathophysiology are complex and not well understood, it is widely accepted that aberrations along the microbe-gut-brain axis are involved. In this review, it will be discussed how exogenous factors, e.g. antibiotics, can cause disbalance in the intestinal microbiota and thereby contribute to the development of IBS. In addition, several new IBS treatment options that aim at re-establishing a healthy, beneficial ecosystem will be described. These include antibiotics, probiotics, prebiotics and faecal transplantation. PMID:24583610

  17. Epizootic ulcerative syndrome caused by Aphanomyces invadans in captive bullseye snakehead Channa marulius collected from south Florida, USA

    Energy Technology Data Exchange (ETDEWEB)

    Saylor, Ryan [University of West Florida; Miller, Debra [University of Georgia; Vandersea, Mark [National Oceanic and Atmospheric Admin; Bevelhimer, Mark S [ORNL; Schofield, Pamela [U.S. Geological Survey; Bennett, Wayne [University of West Florida

    2010-02-01

    Epizootic ulcerative syndrome (EUS) caused by the oomycete Aphanomyces invadans is an invasive, opportunistic disease of both freshwater and estuarine fishes. Originally documented as the cause of mycotic granulomatosis of ornamental fishes in Japan and as the cause of EUS of fishes in southeast Asia and Australia, this pathogen is also present in estuaries and freshwater bodies of the Atlantic and gulf coasts of the USA. We describe a mass mortality event of 343 captive juvenile bullseye snakehead Channa marulius collected from freshwater canals in Miami-Dade County, Florida. Clinical signs appeared within the first 2 d of captivity and included petechiae, ulceration, erratic swimming, and inappetence. Histological examination revealed hyphae invading from the skin lesions deep into the musculature and internal organs. Species identification was confirmed using a species-specific PCR assay. Despite therapeutic attempts, 100% mortality occurred. This represents the first documented case of EUS in bullseye snakehead fish collected from waters in the USA. Future investigation of the distribution and prevalence of A. invadans within the bullseye snakehead range in south Florida may give insight into this pathogen-host system.

  18. A case of obstructive sleep apnea syndrome caused by malignant melanoma in the nasal cavity and paranasal sinus

    Directory of Open Access Journals (Sweden)

    Nobuhiro Asai

    2013-01-01

    Full Text Available A 71 year-old obese woman complained of obstructive sleep apnea syndrome (OSAS related symptoms. The apnea-hypopnea index (AHI was 73.5/hour. She presented with nasal bleeding to an ENT doctor. A mass on the nasal septum was seen and biopsy was performed. Histological confirmation showed malignant melanoma. The tumor stage proved to be cT4aN2M1 (stage IV due to multiple metastatic lesions. After palliative irradiation, the nasal tumor was reduced in size and her symptoms of OSAS were improved. The second AHI revealed 13.5/hour. This case was considered to be OSAS caused by a tumor obstructing the nasal cavity. This might suggest the necessity of routine work-up of the upper airway in cases of patients with sleep disorder. Otherwise, OSAS caused by such obstruction might be missed. We report a very rare case with secondary OSAS caused by malignant melanoma in the nasal cavity and paranasal sinus.

  19. Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features

    OpenAIRE

    Tucci, Valter; Kleefstra, Tjitske; Hardy, Andrea; Heise, Ines; Maggi, Silvia; Willemsen, Marjolein H.; Hilton, Helen; Esapa, Chris; Simon, Michelle; Buenavista, Maria-Teresa; McGuffin, Liam; Vizor, Lucie; Dodero, Luca; Tsaftaris, Sotirios; Romero, Rosario

    2014-01-01

    The recent identification of multiple dominant mutations in the gene encoding β-catenin in both humans and mice has enabled exploration of the molecular and cellular basis of β-catenin function in cognitive impairment. In humans, β-catenin mutations that cause a spectrum of neurodevelopmental disorders have been identified. We identified de novo β-catenin mutations in patients with intellectual disability, carefully characterized their phenotypes, and were able to define a r...

  20. Evaluation of the causes of legume yield depression syndrome usingan improved diagnostic tool

    OpenAIRE

    Fuchs, Jacques G.; Thürig, Barbara; Brandhuber, Robert; Bruns, Christian; Maria R. Finckh; Fließbach, Andreas; Mäder, Paul; Schmidt, Harald; Vogt-Kaute, Werner; Wilbois, Klaus-Peter; Tamm, Lucius

    2014-01-01

    The aim of the study was to establish a diagnostic tool to narrow down the causes for pea yield depressions. A differential two-level diagnostic test system was established under controlled conditions usingpeas (Pisum sativum L.) as test plants. Soils from 22 organically managed sites with unexplained moderate to high pea yield losses were tested in level 1 diagnostics (y-irradiation to eliminate potentiallyharmful organisms, nutrient additions to compensate for potential nutrient deficiencie...

  1. Evaluation of the causes of legume yield depression syndrome using an improved diagnostic tool

    OpenAIRE

    Fuchs, Jacques G.; Thürig, Barbara; Brandhuber, Robert; Bruns, Christian; Maria R. Finckh; Fließbach, Andreas; Mäder, Paul; Schmidt, Harald; Vogt-Kaute, Werner; Wilbois, Klaus-Peter; Lucius, Tamm

    2014-01-01

    The aim of the study was to establish a diagnostic tool to narrow down the causes for pea yield depressions. A differential two-level diagnostic test system was established under controlled conditions usingpeas (Pisum sativum L.) as test plants. Soils from 22 organically managed sites with unexplained moderate to high pea yield losses were tested in level 1 diagnostics (y-irradiation to eliminate potentiallyharmful organisms, nutrient additions to compensate for potential nutrient deficiencie...

  2. Revisiting the craniosynostosis‐radial ray hypoplasia association: Baller‐Gerold syndrome caused by mutations in the RECQL4 gene

    OpenAIRE

    Van Maldergem, L; Siitonen, H. A; Jalkh, N.; Chouery, E; Roy, M.; Delague, V; Muenke, M; Jabs, E W; J. Cai; Wang, L. L.; Plon, S E; Fourneau, C.; Kestilä, M.; Gillerot, Y; Mégarbané, A

    2005-01-01

    Baller‐Gerold syndrome (BGS) is a rare autosomal recessive condition with radial aplasia/hypoplasia and craniosynostosis (OMIM 218600). Of >20 cases reported so far, a few appear atypical and have been reassigned to other nosologic entities, including Fanconi anaemia, Roberts SC phocomelia, and Pfeiffer syndromes after demonstration of corresponding cytogenetic or molecular abnormalities. Clinical overlap between BGS, Rothmund‐Thomson syndrome (RTS), and RAPADILINO syndrome is noticeable. Bec...

  3. Superior Orbital Fissure Syndrome and Ophthalmoplegia Caused by Varicella Zoster Virus with No Skin Eruption in a Patient Treated with Tumor Necrosis Alpha Inhibitor.

    Science.gov (United States)

    Jensen, Helene; Thomsen, Sidsel Thorup; Hansen, Stine Scott; Munksgaard, Signe Bruun; Lindelof, Mette

    2015-01-01

    Varicella zoster virus lies dormant in the dorsal root ganglia after symptomatic chicken pox infection, usually in childhood. If the virus reactivates in the trigeminal ganglia, it can cause varicella zoster ophthalmicus, which can have severe ocular complications. We report a case of a 73-year-old woman in severe immunosuppression due to treatment with mycophenolate mofetil, glucocorticosteroids and a tumor necrosis factor alpha inhibitor. The reactivation caused superior orbital fissure syndrome, which has only rarely been described in relation to varicella zoster virus reactivation. In our case, the syndrome was seen along with severe encephalitis. PMID:26600786

  4. 5q14.3 deletion neurocutaneous syndrome: Contiguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C: A progressive disease.

    Science.gov (United States)

    Ilari, Rita; Agosta, Guillermo; Bacino, Carlos

    2016-03-01

    We report the case of a young girl who was presented with complex clinical symptoms caused by the deletion of contiguous genes: RASA1 and MEF2C, located on chromosome 5q14.3. Specifically, the diagnosis of her skin disorder and vascular malformations involving central nervous system is consistent with a RASopathy. The child's neurological manifestations are observed in most patients suffering from 5q14.3 by deletion or mutation of the MEF2C gene. A review of the literature allowed us to conclude that the contiguous deletion of genes RASA1 and MEF2C fulfills the criteria for the diagnosis of a Neurocutaneous syndrome as proposed by Carr et al. [2011]. We also assessed the penetrance of RASA1 and clinical manifestations of MEF2C according to the type of deletion. This child described presents the complete symptomatology of both deleted genes. We would also like to highlight the progression of the disorder. PMID:26774077

  5. 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

    2016-08-01

    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. PMID:27476655

  6. A RARE CASE OF GRISCELLI’S SYNDROME WITH REVIEW OF LITERATURE

    Directory of Open Access Journals (Sweden)

    Narayan Reddy

    2014-06-01

    Full Text Available INTRODUCTION: Griscelli syndrome is a rare autosomal recessive disorder characterized by partial albinism and immunodeficiency. The characteristic features include silver hair due to clumped melanosomes in hair shaft. Other features include hepatospleenomegaly, hepatitis, pancytopenia and immune abnormalities. CASE REPORT: A seven years old male child presented with partial albinic features and history of recurrent respiratory tract infection. The child had fever since 2months along with hepatospleenomegaly, pancytopenia and thrombocytopenic purpura. These rare clinical manifestations were diagnosed as GS which was confirmed by bone marrow biopsy and light microscopy of hair shaft. The mean patient age of survival is 5years. As early diagnosis can improve the outcome in such cases, a finding of partial albinism should alert the diagnosis of Griscelli’s syndrome. CONCLUSION: We report a rare case of GS with characteristic manifestation surviving beyond the mean age of reported survival.

  7. [A rare cause of compartment syndrome of the forearm and hand following snake bite injury].

    Science.gov (United States)

    Schnecker, K

    1990-06-01

    With the intention to commit suicide a 25 year old patient was bitten by his own rattle snake. At the time of the admission the skin of the right forearm was dark, a hemorrhagic necrotizing colour, and the patient was in shock. He was immediately taken to the intensive care unit and the shock symptoms were treated there. Parasthesias in the area of the nervus medianus were also noticed. The treatment included an antiserum and the release of the tourniquet which caused a further increase of the swelling of the forearm. The lesion led to a hemorrhagic necrotizing inflammation. The surgical incision of the loge of Guyon, the carpal channel, the forearm and proximal of the lacertus fibrosus was persuaded. The circulation improved immediately and after three weeks the nerval function had recovered. The skin defect was covered 14 days after the first operation with meshgraft. PMID:2382320

  8. Thoracic Outlet Syndrome Caused by a Pseudoaneurysm After Pseudarthrosis of the Clavicle.

    Science.gov (United States)

    Heyn, Jens; Ozimek, Alexandra; Sadeghi-Azandaryani, Mojtaba; Bürklein, Dominik; Steckmeier, Bernd

    2008-10-01

    Clavicle fractures are common, with the majority treated conservatively. If treated conservatively, pseudarthrosis of the clavicle is reported in up to 3% of the cases. In rare cases, pseudarthrosis of the clavicle may cause pseudoaneurysm formation, resulting in compression of the brachial plexus and the adjoining vessels, which may produce neurological symptoms and circulatory disorders. Here, we describe two cases of the late onset of pseudoaneurysm formation after pseudarthrosis of the clavicle. Both cases were remarkable because they showed clinical symptoms of TOS. Therefore, surgical treatment was performed and included claviculectomy, resection of the pseudoaneurysm and interposition grafting with an artificial prosthesis. One year after the operation, both patients showed excellent upper extremity function without any deficit of vascular, sensorial or motorial function. Patient's history and radiological findings are the keys to diagnosis. Without treatment, the prognosis is poor with spontaneous development of bleeding or gangrene. Therefore, surgical treatment has to be performed, especially when neurological symptoms occur. PMID:26815997

  9. Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis.

    Science.gov (United States)

    Syx, Delfien; Van Damme, Tim; Symoens, Sofie; Maiburg, Merel C; van de Laar, Ingrid; Morton, Jenny; Suri, Mohnish; Del Campo, Miguel; Hausser, Ingrid; Hermanns-Lê, Trinh; De Paepe, Anne; Malfait, Fransiska

    2015-05-01

    Bi-allelic variants in CHST14, encoding dermatan 4-O-sulfotransferase-1 (D4ST1), cause musculocontractural Ehlers-Danlos syndrome (MC-EDS), a recessive disorder characterized by connective tissue fragility, craniofacial abnormalities, congenital contractures, and developmental anomalies. Recently, the identification of bi-allelic variants in DSE, encoding dermatan sulfate epimerase-1 (DS-epi1), in a child with MC-EDS features, suggested locus heterogeneity for this condition. DS-epi1 and D4ST1 are crucial for biosynthesis of dermatan sulfate (DS) moieties in the hybrid chondroitin sulfate (CS)/DS glycosaminoglycans (GAGs). Here, we report four novel families with severe MC-EDS caused by unique homozygous CHST14 variants and the second family with a homozygous DSE missense variant, presenting a somewhat milder MC-EDS phenotype. The glycanation of the dermal DS proteoglycan decorin is impaired in fibroblasts from D4ST1- as well as DS-epi1-deficient patients. However, in D4ST1-deficiency, the decorin GAG is completely replaced by CS, whereas in DS-epi1-deficiency, still some DS moieties are present. The multisystemic abnormalities observed in our patients support a tight spatiotemporal control of the balance between CS and DS, which is crucial for multiple processes including cell differentiation, organ development, cell migration, coagulation, and connective tissue integrity. PMID:25703627

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

    Science.gov (United States)

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

    2016-02-01

    Isolated cytochrome c oxidase (complex IV) deficiency is one of the most frequent respiratory chain defects in humans and is usually caused by mutations in proteins required for assembly of the complex. Mutations in nuclear-encoded structural subunits are very rare. In a patient with Leigh-like syndrome presenting with leukodystrophy and severe epilepsy, we identified a homozygous splice site mutation in COX8A, which codes for the ubiquitously expressed isoform of subunit VIII, the smallest nuclear-encoded subunit of complex IV. The mutation, affecting the last nucleotide of intron 1, leads to aberrant splicing, a frame-shift in the highly conserved exon 2, and decreased amount of the COX8A transcript. The loss of the wild-type COX8A protein severely impairs the stability of the entire cytochrome c oxidase enzyme complex and manifests in isolated complex IV deficiency in skeletal muscle and fibroblasts, similar to the frequent c.845_846delCT mutation in the assembly factor SURF1 gene. Stability and activity of complex IV could be rescued in the patient's fibroblasts by lentiviral expression of wild-type COX8A. Our findings demonstrate that COX8A is indispensable for function of human complex IV and its mutation causes human disease. PMID:26685157

  11. Maternal segmental disomy in Leigh syndrome with cytochrome c oxidase deficiency caused by homozygous SURF1 mutation.

    Science.gov (United States)

    van Riesen, A K J; Antonicka, H; Ohlenbusch, A; Shoubridge, E A; Wilichowski, E K G

    2006-04-01

    Cytochrome c oxidase deficiency (COX) is the most frequent cause of Leigh syndrome (LS), a mitochondrial subacute necrotizing encephalomyelopathy. Most of these LS (COX-) patients show mutations in SURF1 on chromosome 9 (9q34), which encodes a protein essential for the assembly of the COX complex. We describe a family whose first-born boy developed characteristic features of LS. Severe COX deficiency in muscle was caused by a novel homozygous nonsense mutation in SURF1. Segregation analysis of this mutation in the family was incompatible with autosomal recessive inheritance but consistent with a maternal disomy. Haplotype analysis of microsatellite markers confirmed isodisomy involving nearly the complete long arm of chromosome 9 (9q21-9tel). No additional physical abnormalities were present in the boy, suggesting that there are no imprinted genes on the long arm of chromosome 9 which are crucial for developmental processes. This case of segmental isodisomy illustrates that genotyping of parents is crucial for correct genetic counseling. PMID:16773507

  12. Disruption of CXCR4 signaling in pharyngeal neural crest cells causes DiGeorge syndrome-like malformations.

    Science.gov (United States)

    Escot, Sophie; Blavet, Cédrine; Faure, Emilie; Zaffran, Stéphane; Duband, Jean-Loup; Fournier-Thibault, Claire

    2016-02-15

    DiGeorge syndrome (DGS) is a congenital disease causing cardiac outflow tract anomalies, craniofacial dysmorphogenesis, thymus hypoplasia, and mental disorders. It results from defective development of neural crest cells (NCs) that colonize the pharyngeal arches and contribute to lower jaw, neck and heart tissues. Although TBX1 has been identified as the main gene accounting for the defects observed in human patients and mouse models, the molecular mechanisms underlying DGS etiology are poorly identified. The recent demonstrations that the SDF1/CXCR4 axis is implicated in NC chemotactic guidance and impaired in cortical interneurons of mouse DGS models prompted us to search for genetic interactions between Tbx1, Sdf1 (Cxcl12) and Cxcr4 in pharyngeal NCs and to investigate the effect of altering CXCR4 signaling on the ontogeny of their derivatives, which are affected in DGS. Here, we provide evidence that Cxcr4 and Sdf1 are genetically downstream of Tbx1 during pharyngeal NC development and that reduction of CXCR4 signaling causes misrouting of pharyngeal NCs in chick and dramatic morphological alterations in the mandibular skeleton, thymus and cranial sensory ganglia. Our results therefore support the possibility of a pivotal role for the SDF1/CXCR4 axis in DGS etiology. PMID:26755698

  13. Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene

    Science.gov (United States)

    Känsäkoski, Johanna; Jääskeläinen, Jarmo; Jääskeläinen, Tiina; Tommiska, Johanna; Saarinen, Lilli; Lehtonen, Rainer; Hautaniemi, Sampsa; Frilander, Mikko J.; Palvimo, Jorma J.; Toppari, Jorma; Raivio, Taneli

    2016-01-01

    Mutations in the X-linked androgen receptor (AR) gene underlie complete androgen insensitivity syndrome (CAIS), the most common cause of 46,XY sex reversal. Molecular genetic diagnosis of CAIS, however, remains uncertain in patients who show normal coding region of AR. Here, we describe a novel mechanism of AR disruption leading to CAIS in two 46,XY sisters. We analyzed whole-genome sequencing data of the patients for pathogenic variants outside the AR coding region. Patient fibroblasts from the genital area were used for AR cDNA analysis and protein quantification. Analysis of the cDNA revealed aberrant splicing of the mRNA caused by a deep intronic mutation (c.2450-118A>G) in the intron 6 of AR. The mutation creates a de novo 5′ splice site and a putative exonic splicing enhancer motif, which leads to the preferential formation of two aberrantly spliced mRNAs (predicted to include a premature stop codon). Patient fibroblasts contained no detectable AR protein. Our results show that patients with CAIS and normal AR coding region need to be examined for deep intronic mutations that can lead to pseudoexon activation. PMID:27609317

  14. The fungus Trichophyton redellii sp. nov. causes skin infections that resemble white-nose syndrome of hibernating bats

    Science.gov (United States)

    Lorch, Jeffrey M.; Minnis, Andrew M.; Meteyer, Carol U.; Redell, Jennifer A.; White, J. Paul; Kaarakka, Heather M.; Muller, Laura K.; Lindner, David L.; Verant, Michelle L.; Shearn-Bochsler, Valerie I.; Blehert, David S.

    2014-01-01

    Before the discovery of white-nose syndrome (WNS), a fungal disease caused by Pseudogymnoascus destructans, there were no reports of fungal skin infections in bats during hibernation. In 2011, bats with grossly visible fungal skin infections similar in appearance to WNS were reported from multiple sites in Wisconsin, USA, a state outside the known range of P. destructans and WNS at that time. Tape impressions or swab samples were collected from affected areas of skin from bats with these fungal infections in 2012 and analyzed by microscopy, culture, or direct DNA amplification and sequencing of the fungal internal transcribed spacer region (ITS). A psychrophilic species ofTrichophyton was isolated in culture, detected by direct DNA amplification and sequencing, and observed on tape impressions. Deoxyribonucleic acid indicative of the same fungus was also detected on three of five bat carcasses collected in 2011 and 2012 from Wisconsin, Indiana, and Texas, USA. Superficial fungal skin infections caused by Trichophyton sp. were observed in histopathology for all three bats. Sequencing of the ITS of Trichophyton sp., along with its inability to grow at 25 C, indicated that it represented a previously unknown species, described herein as Trichophyton redellii sp. nov. Genetic diversity present within T. redellii suggests it is native to North America but that it had been overlooked before enhanced efforts to study fungi associated with bats in response to the emergence of WNS.

  15. Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.

    Science.gov (United States)

    Grampa, Valentina; Delous, Marion; Zaidan, Mohamad; Odye, Gweltas; Thomas, Sophie; Elkhartoufi, Nadia; Filhol, Emilie; Niel, Olivier; Silbermann, Flora; Lebreton, Corinne; Collardeau-Frachon, Sophie; Rouvet, Isabelle; Alessandri, Jean-Luc; Devisme, Louise; Dieux-Coeslier, Anne; Cordier, Marie-Pierre; Capri, Yline; Khung-Savatovsky, Suonavy; Sigaudy, Sabine; Salomon, Rémi; Antignac, Corinne; Gubler, Marie-Claire; Benmerah, Alexandre; Terzi, Fabiola; Attié-Bitach, Tania; Jeanpierre, Cécile; Saunier, Sophie

    2016-03-01

    Ciliopathies are a group of genetic multi-systemic disorders related to dysfunction of the primary cilium, a sensory organelle present at the cell surface that regulates key signaling pathways during development and tissue homeostasis. In order to identify novel genes whose mutations would cause severe developmental ciliopathies, >500 patients/fetuses were analyzed by a targeted high throughput sequencing approach allowing exome sequencing of >1200 ciliary genes. NEK8/NPHP9 mutations were identified in five cases with severe overlapping phenotypes including renal cystic dysplasia/hypodysplasia, situs inversus, cardiopathy with hypertrophic septum and bile duct paucity. These cases highlight a genotype-phenotype correlation, with missense and nonsense mutations associated with hypodysplasia and enlarged cystic organs, respectively. Functional analyses of NEK8 mutations in patient fibroblasts and mIMCD3 cells showed that these mutations differentially affect ciliogenesis, proliferation/apoptosis/DNA damage response, as well as epithelial morphogenesis. Notably, missense mutations exacerbated some of the defects due to NEK8 loss of function, highlighting their likely gain-of-function effect. We also showed that NEK8 missense and loss-of-function mutations differentially affect the regulation of the main Hippo signaling effector, YAP, as well as the expression of its target genes in patient fibroblasts and renal cells. YAP imbalance was also observed in enlarged spheroids of Nek8-invalidated renal epithelial cells grown in 3D culture, as well as in cystic kidneys of Jck mice. Moreover, co-injection of nek8 MO with WT or mutated NEK8-GFP RNA in zebrafish embryos led to shortened dorsally curved body axis, similar to embryos injected with human YAP RNA. Finally, treatment with Verteporfin, an inhibitor of YAP transcriptional activity, partially rescued the 3D spheroid defects of Nek8-invalidated cells and the abnormalities of NEK8-overexpressing zebrafish embryos

  16. Cornelia de Lange syndrome caused by heterozygous deletions of chromosome 8q24: comments on the article by Pereza et al. [2012].

    Science.gov (United States)

    Pereza, Nina; Severinski, Srećko; Ostojić, Saša; Volk, Marija; Maver, Aleš; Dekanić, Kristina Baraba; Kapović, Miljenko; Peterlin, Borut

    2015-06-01

    In the March issue of the Journal in 2012, we reported on a girl with Langer-Giedion syndrome (LGS) phenotype and a 7.5 Mb interstitial deletion at 8q23.3q24.13, encompassing the EXT1, but not the TRPS1 gene. Recent discoveries have shown that heterozygous intragenic mutations or contiguous gene deletions including the RAD21 gene, which is located downstream of the TRPS1 gene, are the cause of Cornelia de Lange syndrome-4. Considering that the interstitial deletion in our patient included the RAD21 and 30 other RefSeq genes, we would like to suggest a revision of the diagnosis reported in our previous paper and compare our patient to other reported patients with Cornelia de Lange syndrome-4 caused by heterozygous deletions of chromosome 8q24. © 2015 Wiley Periodicals, Inc. PMID:25899858

  17. An unusual infection of cervicofacial area caused by dental pathology: flesh-eating syndrome.

    Science.gov (United States)

    Ozdinc, Serife; Unlu, Ebru; Oruc, Oya; User, Nese Nur; Karakaya, Zeynep

    2015-10-01

    Necrotizing fasciitis (NF) of the cervicofacial area is highly rare, but physicians should be familiar with the presentation of this situation owing to the suddenness of its beginning, the rapidness of its spread, and ending with high mortality and morbidity. In this article, 5 patients with NF admitted to emergency department with dental pathology history were discussed with a review of the literature. The purpose of this case series is to raise awareness about NF of the cervicofacial area caused by dental pathologies. Five patients admitted to our emergency department between January 2012 and March 2015 and diagnosed as having cervicofacial NF were identified. All patients had dental pathologies. The parameters of the study were patients' age, sex, complaints, self- and family histories, physical examinations' findings, routine laboratory-computed tomographic findings, treatment, and complications. Two of the patients were older than 70 years. One of the patients was healthy but he lost time because of an inappropriate treatment. These 3 patients died. The remaining patients were discharged at the end of the prolonged and intensive treatment. Necrotizing fasciitis should always be remembered in the diagnosis of the infection of the cervicofacial area. Because of difficulty in its diagnosis, a delay in the treatment may result in a horrific outcome. PMID:26298055

  18. Two family members with a syndrome of headache and rash caused by human parvovirus B19

    Directory of Open Access Journals (Sweden)

    Antonio Carlos M. Pereira

    2001-02-01

    Full Text Available Human parvovirus B19 infection can cause erythema infectiosum (EI and several other clinical presentations. Central nervous system (CNS involvement is rare, and only a few reports of encephalitis and aseptic meningitis have been published. Here, we describe 2 cases of B19 infection in a family presenting different clinical features. A 30 year old female with a 7-day history of headache, malaise, myalgias, joint pains, and rash was seen. Physical examination revealed a maculopapular rash on the patient's body, and arthritis of the hands. She completely recovered in 1 week. Two days before, her 6 year old son had been admitted to a clinic with a 1-day history of fever, headache, abdominal pain and vomiting. On admission, he was alert, and physical examination revealed neck stiffness, Kerning and Brudzinski signs, and a petechial rash on his trunk and extremities. Cerebrospinal fluid analysis was normal. He completely recovered in 5 days. Acute and convalescent sera of both patients were positive for specific IgM antibody to B19. Human parvovirus B19 should be considered in the differential diagnosis of aseptic meningitis, particularly during outbreaks of erythema infectiosum. The disease may mimic meningococcemia and bacterial meningitis.

  19. Mutations in PAX3 that cause Waardenburg syndrome type I: Ten new mutations and review of the literature

    Energy Technology Data Exchange (ETDEWEB)

    Baldwin, C.T.; Hoth, C.F.; Milunsky, A. [Boston Univ. School of Medicine, MA (United States)] [and others

    1995-08-28

    Waardenburg syndrome (WS) is an autosomal-dominant disorder characterized by sensorineural hearing loss, dystopia canthorum, and pigmentary disturbances, and it represents the most common form of inherited deafness in infants. WS type I is characterized by the presence of dystopia canthorum, while individuals with WS type II have normally-located canthi. WS type III is similar to WS type I but is also characterized by musculoskeletal abnormalities. Defects in the PAX3 gene, a transcription factor expressed during embryonic development, have been shown to cause WS types I and III in several families. In contrast, mutations in PAX3 do not cause WS type II, and linkage of the disease to other chromosomal regions has been demonstrated. We describe 10 additional mutations in the PAX3 gene in families with WS type I. Eight of these mutations are in the region of PAX3, where only one mutation has been previously described. These mutations, together with those previously reported, cover essentially the entire PAX3 gene and represent a wide spectrum of mutations that can cause WS type I. Thus far, all but one of the mutations are private; only one mutation has been reported in two apparently unrelated families. Our analysis thus far demonstrates little correlation between genotype and phenotype; deletions of the entire PAX3 gene result in phenotypes indistinguishable from those associated with single-base substitutions in the paired domain or homeodomain of PAX3. Moreover, two similar mutations in close proximity can result in significantly different phenotypes, WS type I in one family and WS type III in another. 47 refs., 3 figs., 5 tabs.

  20. Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.

    Science.gov (United States)

    Monroe, Glen R; Harakalova, Magdalena; van der Crabben, Saskia N; Majoor-Krakauer, Danielle; Bertoli-Avella, Aida M; Moll, Frans L; Oranen, Björn I; Dooijes, Dennis; Vink, Aryan; Knoers, Nine V; Maugeri, Alessandra; Pals, Gerard; Nijman, Isaac J; van Haaften, Gijs; Baas, Annette F

    2015-06-01

    Different forms of Ehlers-Danlos syndrome (EDS) exist, with specific phenotypes and associated genes. Vascular EDS, caused by heterozygous mutations in the COL3A1 gene, is characterized by fragile vasculature with a high risk of catastrophic vascular events at a young age. Classic EDS, caused by heterozygous mutations in the COL5A1 or COL5A2 genes, is characterized by fragile, hyperextensible skin and joint laxity. To date, vessel rupture in four unrelated classic EDS patients with a confirmed COL5A1 mutation has been reported. We describe familial occurrence of a phenotype resembling vascular EDS in a mother and her two sons, who all died at an early age from arterial ruptures. Diagnostic Sanger sequencing in the proband failed to detect aberrations in COL3A1, COL1A1, COL1A2, TGFBR1, TGFBR2, SMAD3, and ACTA2. Next, the proband's DNA was analyzed using a next-generation sequencing approach targeting 554 genes linked to vascular disease (VASCULOME project). A novel heterozygous mutation in COL5A1 was detected, resulting in an essential glycine substitution at the C-terminal end of the triple helix domain (NM_000093.4:c.4610G>T; p.Gly1537Val). This mutation was also present in DNA isolated from autopsy material of the index's brother. No material was available from the mother, but the mutation was excluded in her parents, siblings and in the father of her sons, suggesting that the COL5A1 mutation occurred in the mother's genome de novo. In conclusion, we report familial occurrence of lethal arterial events caused by a COL5A1 mutation. PMID:25845371

  1. Cushing's Syndrome

    Science.gov (United States)

    ... Cushing's syndrome, also called hypercortisolism , is a rare endocrine disorder caused by chronic exposure of the body's tissues ... removing the tumor while minimizing the chance of endocrine deficiency or long-term ... for Cushing's Syndrome Clinical Trials ...

  2. Turner Syndrome

    Science.gov (United States)

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

  3. Usher Syndrome

    Science.gov (United States)

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

  4. Turner Syndrome

    Science.gov (United States)

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of ...

  5. Intrathecal Clonidine Pump Failure Causing Acute Withdrawal Syndrome With 'Stress-Induced' Cardiomyopathy.

    Science.gov (United States)

    Lee, Hwee Min D; Ruggoo, Varuna; Graudins, Andis

    2016-03-01

    Clonidine is a central alpha(2)-agonist antihypertensive used widely for opioid/alcohol withdrawal, attention deficit hyperactivity disorder and chronic pain management. We describe a case of clonidine withdrawal causing life-threatening hypertensive crisis and stress-induced cardiomyopathy. A 47-year-old man with chronic back pain, treated with clonidine for many years via intrathecal pump (550 mcg/24 h), presented following a collapse and complaining of sudden worsening of back pain, severe headache, diaphoresis, nausea and vomiting. A few hours prior to presentation, his subcutaneous pump malfunctioned. On presentation, vital signs included pulse 100 bpm, BP 176/103 mmHg, temperature 37.8 °C and O2 saturation 100 % (room air). Acute clonidine withdrawal with hypertensive crisis was suspected. Intravenous clonidine loading dose and a 50 mcg/h infusion were commenced. Five hours later, severe chest pain, dyspnoea, tachycardia, hypoxia, with BP 180/120 mmHg and pulmonary edema ensued. ECG showed sinus tachycardia with no ST elevation. Repeated intravenous clonidine doses were given (25 mcg every 5-10 min), with ongoing clonidine infusion to control blood pressure. Glyceryl trinitrate infusion, positive pressure ventilation and intravenous benzodiazepines were added. Bedside echocardiogram showed stress-induced cardiomyopathy pattern. Serum troponin-I was markedly elevated. His coronary angiography showed minor irregularities in the major vessels. Over the next 3 days in the ICU, drug infusions were weaned. Discharge was 12 days later on oral clonidine, metoprolol, perindopril, aspirin and oxycodone-SR. Two months later, his echocardiogram was normal. The intrathecal pump was removed. We report a case of stress-induced cardiomyopathy resulting from the sudden cessation of long-term intrathecal clonidine. This was managed by re-institution of clonidine and targeted organ-specific therapies. PMID:26370679

  6. Genetic architecture and evolution of the mating type locus in fusaria that cause soybean sudden death syndrome and bean root rot

    Science.gov (United States)

    Fusarium tucumaniae is the only known sexually reproducing species among the seven closely related fusaria that cause soybean sudden death syndrome (SDS) or bean root rot (BRR). Laboratory mating of F. tucumaniae required two mating-compatible strains, indicating that it is heterothallic. To assess ...

  7. The CHRNE 470del20 mutation causing congenital myasthenic syndrome in South African Brahman cattle: Prevalence, origin, and association with performance traits.

    NARCIS (Netherlands)

    Thompson, P.N.; Werf, van der J.H.J.; Heesterbeek, J.A.P.; Arendonk, van J.A.M.

    2007-01-01

    Genotyping of the South African, registered, Brahman cattle population for the 470del20 mutation in the CHRNE gene causing congenital myasthenic syndrome (CMS) was carried out in 1,453 animals. Overall prevalence of carriers was 0.97% (0.50 to 1.68%, 95% confidence interval). Carrier prevalence amon

  8. The CHRNE 470del20 mutation causing congenital myasthenic syndrome in South African Brahman cattle: Prevalence, origin, and association with performance traits

    NARCIS (Netherlands)

    Thompson, P.N.; Werf, J.H.J. van der; Heesterbeek, J.A.P.; Arendonk, J.A.M. van

    2007-01-01

    Genotyping of the South African, registered, Brahman cattle population for the 470del20 mutation in the CHRNE gene causing congenital myasthenic syndrome (CMS) was carried out in 1,453 animals. Overall prevalence of carriers was 0.97% (0.50 to 1.68%, 95% confidence interval). Carrier prevalence amon

  9. Two clinical cases of renal syndrome caused by Dobrava/Saaremaa hantaviruses imported to the Netherlands from Poland and Belarus, 2012–2014

    Science.gov (United States)

    GeurtsvanKessel, Corine H.; Goeijenbier, Marco; Verner-Carlsson, Jenny; Litjens, Eline; Bos, Willem-Jan; Pas, Suzan D.; Medonça Melo, Mariana; Koopmans, Marion; Lundkvist, Åke; Reusken, Chantal B. E. M.

    2016-01-01

    We report the rare event of two imported cases in the Netherlands presenting with renal syndrome caused by Dobrava (DOBV)/Saaremaa (SAAV) hantaviruses. DOBV/SAAV hantaviruses are not circulating in the Netherlands and their clinical manifestation is typically more severe than that of the endemic Puumala virus (PUUV). This report aims to increase awareness among healthcare professionals and diagnostic laboratories to consider different hantaviruses as a cause of renal failure. PMID:26818411

  10. Two clinical cases of renal syndrome caused by Dobrava/Saaremaa hantaviruses imported to the Netherlands from Poland and Belarus, 2012-2014.

    Science.gov (United States)

    GeurtsvanKessel, Corine H; Goeijenbier, Marco; Verner-Carlsson, Jenny; Litjens, Eline; Bos, Willem-Jan; Pas, Suzan D; Melo, Mariana Medonça; Koopmans, Marion; Lundkvist, Åke; Reusken, Chantal B E M

    2016-01-01

    We report the rare event of two imported cases in the Netherlands presenting with renal syndrome caused by Dobrava (DOBV)/Saaremaa (SAAV) hantaviruses. DOBV/SAAV hantaviruses are not circulating in the Netherlands and their clinical manifestation is typically more severe than that of the endemic Puumala virus (PUUV). This report aims to increase awareness among healthcare professionals and diagnostic laboratories to consider different hantaviruses as a cause of renal failure. PMID:26818411

  11. A Rare Cause of Recurrent Apthous Stomatitis in a Adult Patient and an Overlooked Entity: PFAPA Syndrome

    Directory of Open Access Journals (Sweden)

    Ali Murat Ceyhan

    2013-03-01

    Full Text Available PFAPA syndrome is a recently identified clinical entity of unknown etiology characterized by recurrent episodes of abrupt onset of high fever, aphthous stomatitis, pharyngitis and cervical lymphadenopathy. The associated symptoms do not regress with antibiotic therapy. The dramatic response of symptoms to single dose corticosteroids is hallmark feature of this syndrome. PFAPA syndrome usually begins under 5 years of age and in most cases resolves spontaneously until ten years old. PFAPA syndrome is extremely rare in adults, and to our knowledge, only about 20 cases have been described to date. Although PFAPA syndrome is increasingly reported in the pediatric literature, and is a known condition for the pediatricians, most dermatologists are unfamiliar with this entity. In this report, we describe a late onset of PFAPA syndrome in a 25-year-old boy who presented to our clinic for his recurrent aphthous stomatitis and fever.

  12. Swollen hindgut syndrome (SHG of tiger shrimp Penaeus monodon (Crustacea, Malacostraca, Penaeidae post larvae: Identification of causing pathogenic bacteria and their sensitivity to some antibiotics

    Directory of Open Access Journals (Sweden)

    Sheikh Aftabuddin

    2011-01-01

    Full Text Available Swollen Hindgut syndrome (SHG of black tiger shrimp Penaeus monodon Fabricius, 1798post larvae has been reported from Bangladesh shrimp hatcheries in recent years. At present SHG is abudding problem causing significant economic loss to the shrimp hatcheries in Bangladesh. Unlike therapid mortalities associated with viral disease such as white spot syndrome and yellow head virus,progression of SHG is gradual leading to low level mortalities without affecting swimming activity. Thesign of SHG are a bloated or swollen in hind gut area, with the posterior digestive tract convolutingthrough the last abdominal segment. This syndrome tends to occur at later PL stages, typically afterPL10. Two types of Vibrio spp. were isolated from the swollen hindgut syndrome post larvae, identified asVibrio harveyi (Johnson and Shunk 1936and Vibrio alginolyticus (Miyamoto, Nakamura & Takizawa1961. Among these V. alginolyticus was dominant to V. harveyi. The bacterial isolates showed sensitiveto oxytetracycline (OTC, norfloxacin and ciprofloxacin and resistant to penicillin, ampicillin andamoxycillin. The luminous V. harveyi showed resistant to many antibiotics and susceptibility to only twodrugs. The cause of swollen hindgut syndrome (SHG was probably bacterial infections and poor waterquality, possibly heavy metal i.e. iron, the presence of toxic substances from chemical prophylactics andlow quality or diseased nauplii.

  13. Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

    OpenAIRE

    Halbritter, Jan; Bizet, Albane A.; Schmidts, Miriam; Porath, Jonathan D.; Braun, Daniela A.; Gee, Heon Yung; McInerney-Leo, Aideen M; Krug, Pauline; Filhol, Emilie; Davis, Erica E.; Airik, Rannar; Czarnecki, Peter G.; Lehman, Anna M; Trnka, Peter; Nitschké, Patrick

    2013-01-01

    Intraflagellar transport (IFT) depends on two evolutionarily conserved modules, subcomplexes A (IFT-A) and B (IFT-B), to drive ciliary assembly and maintenance. All six IFT-A components and their motor protein, DYNC2H1, have been linked to human skeletal ciliopathies, including asphyxiating thoracic dystrophy (ATD; also known as Jeune syndrome), Sensenbrenner syndrome, and Mainzer-Saldino syndrome (MZSDS). Conversely, the 14 subunits in the IFT-B module, with the exception of IFT80, have unkn...

  14. Tissue loss (white syndrome) in the coral Montipora capitata is a dynamic disease with multiple host responses and potential causes

    Science.gov (United States)

    Work, Thierry M.; Russell, Robin; Aeby, Greta S.

    2012-01-01

    Tissue loss diseases or white syndromes (WS) are some of the most important coral diseases because they result in significant colony mortality and morbidity, threatening dominant Acroporidae in the Caribbean and Pacific. The causes of WS remain elusive in part because few have examined affected corals at the cellular level. We studied the cellular changes associated with WS over time in a dominant Hawaiian coral, Montipora capitata, and showed that: (i) WS has rapidly progressing (acute) phases mainly associated with ciliates or slowly progressing (chronic) phases mainly associated with helminths or chimeric parasites; (ii) these phases interchanged and waxed and waned; (iii) WS could be a systemic disease associated with chimeric parasitism or a localized disease associated with helminths or ciliates; (iv) corals responded to ciliates mainly with necrosis and to helminths or chimeric parasites with wound repair; (v) mixed infections were uncommon; and (vi) other than cyanobacteria, prokaryotes associated with cell death were not seen. Recognizing potential agents associated with disease at the cellular level and the host response to those agents offers a logical deductive rationale to further explore the role of such agents in the pathogenesis of WS in M. capitata and helps explain manifestation of gross lesions. This approach has broad applicability to the study of the pathogenesis of coral diseases in the field and under experimental settings.

  15. Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

    Science.gov (United States)

    Niceta, Marcello; Stellacci, Emilia; Gripp, Karen W.; Zampino, Giuseppe; Kousi, Maria; Anselmi, Massimiliano; Traversa, Alice; Ciolfi, Andrea; Stabley, Deborah; Bruselles, Alessandro; Caputo, Viviana; Cecchetti, Serena; Prudente, Sabrina; Fiorenza, Maria T.; Boitani, Carla; Philip, Nicole; Niyazov, Dmitriy; Leoni, Chiara; Nakane, Takaya; Keppler-Noreuil, Kim; Braddock, Stephen R.; Gillessen-Kaesbach, Gabriele; Palleschi, Antonio; Campeau, Philippe M.; Lee, Brendan H.L.; Pouponnot, Celio; Stella, Lorenzo; Bocchinfuso, Gianfranco; Katsanis, Nicholas; Sol-Church, Katia; Tartaglia, Marco

    2015-01-01

    Transcription factors operate in developmental processes to mediate inductive events and cell competence, and perturbation of their function or regulation can dramatically affect morphogenesis, organogenesis, and growth. We report that a narrow spectrum of amino-acid substitutions within the transactivation domain of the v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog (MAF), a leucine zipper-containing transcription factor of the AP1 superfamily, profoundly affect development. Seven different de novo missense mutations involving conserved residues of the four GSK3 phosphorylation motifs were identified in eight unrelated individuals. The distinctive clinical phenotype, for which we propose the eponym Aymé-Gripp syndrome, is not limited to lens and eye defects as previously reported for MAF/Maf loss of function but includes sensorineural deafness, intellectual disability, seizures, brachycephaly, distinctive flat facial appearance, skeletal anomalies, mammary gland hypoplasia, and reduced growth. Disease-causing mutations were demonstrated to impair proper MAF phosphorylation, ubiquitination and proteasomal degradation, perturbed gene expression in primary skin fibroblasts, and induced neurodevelopmental defects in an in vivo model. Our findings nosologically and clinically delineate a previously poorly understood recognizable multisystem disorder, provide evidence for MAF governing a wider range of developmental programs than previously appreciated, and describe a novel instance of protein dosage effect severely perturbing development. PMID:25865493

  16. Structural and functional analyses of Barth syndrome-causing mutations and alternative splicing in the tafazzin acyltransferase domain

    Directory of Open Access Journals (Sweden)

    Atsushi Hijikata

    2015-06-01

    Full Text Available Tafazzin is a mitochondrial phospholipid transacylase, and its mutations cause Barth syndrome (BTHS. Human tafazzin gene produces four distinct alternatively spliced transcripts. To understand the molecular mechanisms of tafazzin deficiency, we performed an atomic resolution analysis of the influence of the BTHS mutations and of alternative splicing on the structure and function of tafazzin. From the three-dimensional (3D homology modeling of tafazzin, we identified candidate amino acid residues that contribute to cardiolipin binding and to mitochondrial membrane associations that facilitate acyl-transfer reactions. Primate specific exon 5, which is alternatively spliced, is predicted to correspond to an intrinsically unstructured region in the protein. We proposed that this region should change the substrate-binding affinity and/or contribute to primate-specific molecular interactions. Exon 7, another alternatively spliced exon, encodes a region forming a part of the putative substrate-binding cleft, suggesting that the gene products lacking exon 7 will lose their substrate-binding ability. We demonstrate a clear localization of the BTHS mutations at residues responsible for membrane association, substrate binding, and the conformational stability of tafazzin. These findings provide new insights into the function of defective tafazzin and the pathogenesis of BTHS at the level of protein 3D structure and the evolution of alternatively spliced exons in primates.

  17. Structural and functional analyses of Barth syndrome-causing mutations and alternative splicing in the tafazzin acyltransferase domain.

    Science.gov (United States)

    Hijikata, Atsushi; Yura, Kei; Ohara, Osamu; Go, Mitiko

    2015-06-01

    Tafazzin is a mitochondrial phospholipid transacylase, and its mutations cause Barth syndrome (BTHS). Human tafazzin gene produces four distinct alternatively spliced transcripts. To understand the molecular mechanisms of tafazzin deficiency, we performed an atomic resolution analysis of the influence of the BTHS mutations and of alternative splicing on the structure and function of tafazzin. From the three-dimensional (3D) homology modeling of tafazzin, we identified candidate amino acid residues that contribute to cardiolipin binding and to mitochondrial membrane associations that facilitate acyl-transfer reactions. Primate specific exon 5, which is alternatively spliced, is predicted to correspond to an intrinsically unstructured region in the protein. We proposed that this region should change the substrate-binding affinity and/or contribute to primate-specific molecular interactions. Exon 7, another alternatively spliced exon, encodes a region forming a part of the putative substrate-binding cleft, suggesting that the gene products lacking exon 7 will lose their substrate-binding ability. We demonstrate a clear localization of the BTHS mutations at residues responsible for membrane association, substrate binding, and the conformational stability of tafazzin. These findings provide new insights into the function of defective tafazzin and the pathogenesis of BTHS at the level of protein 3D structure and the evolution of alternatively spliced exons in primates. PMID:25941633

  18. Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report

    Directory of Open Access Journals (Sweden)

    Dufier Jean-Louis

    2006-11-01

    Full Text Available Abstract Background Axenfeld-Rieger syndrome (ARS is characterized by bilateral congenital abnormalities of the anterior segment of the eye associated with abnormalities of the teeth, midface, and umbilicus. Most cases of ARS are caused by mutations in the genes encoding PITX2 or FOXC1. Here we describe a family affected by a severe form of ARS. Case presentation Two members of this family (father and daughter presented with typical ARS and developed severe glaucoma. The ocular phenotype was much more severe in the daughter than in the father. Magnetic resonance imaging (MRI detected an aggressive form of meningioma in the father. There was no mutation in the PITX2 gene, determined by exon screening. We identified an intragenic deletion by quantitative genomic PCR analysis and characterized this deletion in detail. Conclusion Our findings implicate the first intragenic deletion of the PITX2 gene in the pathogenesis of a severe form of ARS in an affected family. This study stresses the importance of a systematic search for intragenic deletions in families affected by ARS and in sporadic cases for which no mutations in the exons or introns of PITX2 have been found. The molecular genetics of some ARS pedigrees should be re-examined with enzymes that can amplify medium and large genomic fragments.

  19. Classifying late-onset dementia with MRI: Is arteriosclerotic brain degeneration the most common cause of Alzheimer′s syndrome?

    Directory of Open Access Journals (Sweden)

    Marie Cécile Henry-Feugeas

    2008-03-01

    Full Text Available Marie Cécile Henry-Feugeas1, Fannie Onen2, Elisabeth Schouman Claeys11Department of Radiology, 2Department of Geriatrics, Bichat-Claude Bernard University Hospital, AP-HP, Paris, FranceAbstract: Our aim was to use early magnetic resonance imaging (MRI to investigate the causes of cognitive decline in elderly people with mild cognitive impairment (MCI. Baseline structural and flow quantification MR sequences, and clinical and neuropsychological follow-up for at least two years, were performed on 62 elderly subjects with MCI. Of these subjects, 17 progressed to dementia, and 15 of these progressed to dementia of the Alzheimer type (DAT. Conversion to clinically diagnosed DAT was related to six distinct MR profiles, including one profile suggesting severe AD (20% of these converters and five profiles suggesting severe cerebrovascular dysfunction. Two profiles suggested arteriosclerotic brain degeneration, one profile suggested severe venous windkessel dysfunction, and two suggested marked cerebral hypoperfusion associated with very low craniospinal compliance or marked brain atrophy. As compared with vascular MR type converters, AD MR type converters showed high executive and mobility predementia performances. Severe whole anteromesial temporal atrophy and predominantly left brain atrophy on visual MR analysis was only observed in AD MR type converters. In conclusion, these observations enhance the pathogenic complexity of the Alzheimer syndrome, and suggest that the role of arteriosclerotic brain degeneration in late life dementia is underestimated.Keywords: Alzheimer’s disease, mild cognitive impairment, dementia, MRI, phase contrast, atherosclerosis

  20. Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.

    Science.gov (United States)

    Chong, Jessica X; Caputo, Viviana; Phelps, Ian G; Stella, Lorenzo; Worgan, Lisa; Dempsey, Jennifer C; Nguyen, Alina; Leuzzi, Vincenzo; Webster, Richard; Pizzuti, Antonio; Marvin, Colby T; Ishak, Gisele E; Ardern-Holmes, Simone; Richmond, Zara; Bamshad, Michael J; Ortiz-Gonzalez, Xilma R; Tartaglia, Marco; Chopra, Maya; Doherty, Dan

    2016-04-01

    Infantile encephalopathies are a group of clinically and biologically heterogeneous disorders for which the genetic basis remains largely unknown. Here, we report a syndromic neonatal encephalopathy characterized by profound developmental disability, severe hypotonia, seizures, diminished respiratory drive requiring mechanical ventilation, brain atrophy, dysgenesis of the corpus callosum, cerebellar vermis hypoplasia, and facial dysmorphism. Biallelic inactivating mutations in TBCK (TBC1-domain-containing kinase) were independently identified by whole-exome sequencing as the cause of this condition in four unrelated families. Matching these families was facilitated by the sharing of phenotypic profiles and WES data in a recently released web-based tool (Geno2MP) that links phenotypic information to rare variants in families with Mendelian traits. TBCK is a putative GTPase-activating protein (GAP) for small GTPases of the Rab family and has been shown to control cell growth and proliferation, actin-cytoskeleton dynamics, and mTOR signaling. Two of the three mutations (c.376C>T [p.Arg126(∗)] and c.1363A>T [p.Lys455(∗)]) are predicted to truncate the protein, and loss of the major TBCK isoform was confirmed in primary fibroblasts from one affected individual. The third mutation, c.1532G>A (p.Arg511His), alters a conserved residue within the TBC1 domain. Structural analysis implicated Arg511 as a required residue for Rab-GAP function, and in silico homology modeling predicted impaired GAP function in the corresponding mutant. These results suggest that loss of Rab-GAP activity is the underlying mechanism of disease. In contrast to other disorders caused by dysregulated mTOR signaling associated with focal or global brain overgrowth, impaired TBCK function results in progressive loss of brain volume. PMID:27040692

  1. Chronic exposure to low benzo[a]pyrene level causes neurodegenerative disease-like syndromes in zebrafish (Danio rerio).

    Science.gov (United States)

    Gao, Dongxu; Wu, Meifang; Wang, Chonggang; Wang, Yuanchuan; Zuo, Zhenghong

    2015-10-01

    Previous epidemiological and animal studies report that exposure to environmental pollutant exposure links to neurodegenerative diseases such as Parkinson's disease and Alzheimer's disease. Benzo[a]pyrene (BaP), a neurotoxic polycyclic aromatic hydrocarbon, has been increasingly released into the environment during recent decades. So far, the role of BaP on the development of neurodegenerative diseases remaind unclear. This study aimed to determine whether chronic exposure to low dose BaP would cause neurodegenerative disease-like syndromes in zebrafish (Danio rerio). We exposed zebrafish, from early embryogenesis to adults, to environmentally relevant concentrations of BaP for 230 days. Our results indicated that BaP decreased the brain weight to body weight ratio, locomotor activity and cognitive ability; induced the loss of dopaminergic neurons; and resulted in neurodegeneration. In addition, obvious cell apoptosis in the brain was found. Furthermore, the neurotransmitter levels of dopamine and 3,4-dihydroxyphenylacetic acid, the mRNA levels of the genes encoding dopamine transporter, Parkinson protein 7, phosphatase and tensin-induced putative kinase 1, ubiquitin carboxy-terminal hydrolase L1, leucine-rich repeat serine/threonine kinase 2, amyloid precursor protein b, presenilin 1 and presenilin 2 were significantly down-regulated by BaP exposure. These findings suggest that chronic exposure to low dose BaP could cause the behavioral, neuropathological, neurochemical, and genetic features of neurodegenerative diseases. This study provides clues that BaP may constitute an important environmental risk factor for neurodegenerative diseases in humans. PMID:26349946

  2. Inappropriate mediastinal baroreceptor reflex as a possible cause of sudden infant death syndrome - Is thorough burping before sleep protective?

    Science.gov (United States)

    Flaig, Christian

    2007-01-01

    Despite extensive research, a link between the assumed mechanisms of death and known risk factors for sudden infant death syndrome (SIDS) has not yet been established. Modifiable risk factors such as prone sleeping position, nicotine exposure and thermal stress and non-avoidable risk factors like male gender and some risky socio-economic conditions could be detected, but the etiology of SIDS remains unknown. In many SIDS cases histopathological findings suggest an involvement of vital autonomic control functions and unidentified trigger factors seem to play a role. From a hypothetical point of view, a developmental sympatheticovagal imbalance of the cardiovascular reflex control could cause a predisposition for SIDS. An assumed gastroesophageal trigger impulse is possibly developed during the first weeks of life and could lead to the infant's vagal reflex death. Air swallowed during feeding escapes through the esophagus while the infant is sleeping. The temporarily bloated esophagus exerts pressure on neighboring mediastinal baroreceptors, which is potentially misinterpreted as a rise in arterial pressure. The following cardiodepressoric baroreceptor reflex could lead to arterial hypotension, bradycardia and cardiac arrest. Sleeping in prone position may create an increased thoracic pressure on mediastinal baroreceptors, causing a more pronounced vagal reflex and an increased likelihood of SIDS. Prone position in connection with soft objects in the infant's sleeping environment potentially generates an increased oculobulbar pressure, resulting in an additional cardiodepressoric condition (Aschner-Dagnini phenomenon). From the sixth month of life onwards the sympatheticovagal balance seems to have matured sufficiently to compensate the life-threatening challenges in most infants. Insufficient postprandial burping could either create another independent modifiable risk factor or present the missing link to a common trigger mechanism for SIDS. Further investigations

  3. Emergence of Streptococcus pyogenes emm102 causing toxic shock syndrome in Southern Taiwan during 2005-2012.

    Directory of Open Access Journals (Sweden)

    Jiun-Nong Lin

    Full Text Available BACKGROUND: Streptococcal toxic shock syndrome (STSS is an uncommon but life-threatening disease caused by Streptococcus pyogenes. METHODS: To understand the clinical and molecular characteristics of STSS, we analyzed clinical data and explored the emm types, superantigen genes, and pulsed-field gel electrophoresis of causative S. pyogenes isolates obtained between 2005 and 2012. RESULTS: In total, 53 patients with STSS were included in this study. The median age of the patients was 57 years (range: 9-83 years, and 81.1% were male. The most prevalent underlying disease was diabetes mellitus (45.3%. Skin and soft-tissue infection accounted for 86.8% of STSS. The overall mortality rate was 32.1%. Underlying diseases had no statistical impact on mortality. A total of 19 different emm types were identified. The most prevalent emm type was emm102 (18.9%, followed by emm11 (17%, emm1 (11.3%, emm87 (9.4%, and emm89 (7.5%. There was no statistically significant association between emm type and a fatal outcome. Among the superantigen genes, speB was the most frequently detected one (92.5%, followed by smeZ (90.6%, speG (81.1%, speC (39.6%, and speF (39.6%. The majority of emm102 strains were found to have speB, speC, speG, and smeZ. The presence of speG was negatively associated with a fatal outcome (P = 0.045. CONCLUSIONS: Our surveillance revealed the emergence of uncommon emm types, particularly emm102, causing STSS in southern Taiwan. Characterization of clinical, epidemiological, and molecular characteristics of STSS will improve our understanding of this life-threatening disease.

  4. Identification and functional characterisation of a novel KCNJ2 mutation, Val302del, causing Andersen-Tawil syndrome.

    Science.gov (United States)

    Ördög, Balázs; Hategan, Lidia; Kovács, Mária; Seprényi, György; Kohajda, Zsófia; Nagy, István; Hegedűs, Zoltán; Környei, László; Jost, Norbert; Katona, Márta; Szekeres, Miklós; Forster, Tamás; Papp, Julius Gy; Varró, András; Sepp, Róbert

    2015-07-01

    Loss-of-function mutations of the KCNJ2 gene encoding for the inward rectifier potassium channel subunit Kir2.1 cause Andersen-Tawil Syndrome (ATS), a rare genetic disorder characterised by periodic paralysis, ventricular arrhythmias, and dysmorphic features. Clinical manifestations of the disease appear to vary greatly with the nature of mutation, therefore, functional characterisation of ATS-causing mutations is of clinical importance. In this study, we describe the identification and functional analysis of a novel KCNJ2 mutation, Val302del, identified in a patient with ATS. Heterologously expressed wild type (WT) and Val302del mutant alleles showed similar subcellular distribution of the Kir2.1 protein with high intensity labelling from the membrane region, demonstrating normal membrane trafficking of the Val302del Kir2.1 variant. Cells transfected with the WT allele displayed a robust current with strong inward rectification, while no current above background was detected in cells expressing the Val302del Kir2.1 subunit. Co-transfection of CHO cells with the WT and the Val302del Kir2.1 revealed a dose-dependent inhibitory effect of the Val302del Kir2.1 mutant subunit on WT Kir2.1 currents. These observations indicate that the WT and the Val302del mutant subunits co-assemble in the cell membrane and that the mutation affects potassium conductivity and (or) gating of the WT/Val302del heteromeric Kir2.1 channels. PMID:26103554

  5. Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice

    NARCIS (Netherlands)

    Rainger, J.; Beusekom, E. van; Ramsay, J.K.; McKie, L.; Al-Gazali, L.; Pallotta, R.; Saponari, A.; Branney, P.; Fisher, M.; Morrison, H.; Bicknell, L.; Gautier, P.; Perry, P.; Sokhi, K.; Sexton, D.; Bardakjian, T.M.; Schneider, A.S.; Elcioglu, N.; Ozkinay, F.; Koenig, R.; Megarbane, A.; Semerci, C.N.; Khan, A.; Zafar, S.; Hennekam, R.; Sousa, S.B.; Ramos, L.; Garavelli, L.; Furga, A.S.; Wischmeijer, A.; Jackson, I.J.; Gillessen-Kaesbach, G.; Brunner, H.G.; Wieczorek, D.; Bokhoven, J.H.L.M. van; FitzPatrick, D.R.

    2011-01-01

    Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly bilateral anophthalmia, with post-axial oligosyndactyly. Homozygosity mapping and subsequent targeted mutation analysis of a locus on 14q24.2 identif

  6. Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

    NARCIS (Netherlands)

    J. Rainger; E. van Beusekom; J.K. Ramsay; L. McKie; L. Al-Gazali; R. Pallotta; A. Saponari; P. Branney; M. Fisher; H. Morrison; L. Bicknell; P. Gautier; P. Perry; K. Sokhi; D. Sexton; T.M. Bardakjian; A.S. Schneider; N. Elcioglu; F. Ozkinay; R. Koenig; A. Megarbane; C.N. Semerci; A. Khan; S. Zafar; R. Hennekam; S.B. Sousa; L. Ramos; L. Garavelli; A.S. Furga; A. Wischmeijer; I.J. Jackson; G. Gillessen-Kaesbach; H.G. Brunner; D Wieczorek; H. van Bokhoven; D.R. Fitzpatrick

    2011-01-01

    Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly bilateral anophthalmia, with post-axial oligosyndactyly. Homozygosity mapping and subsequent targeted mutation analysis of a locus on 14q24.2 identif

  7. A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet-Biedl syndrome in a Pakistani family

    NARCIS (Netherlands)

    Agha, Z.; Iqbal, Z.; Azam, M.; Hoefsloot, L.H.; Bokhoven, J.H.L.M. van; Qamar, R.

    2013-01-01

    Bardet-Biedl Syndrome is a multisystem autosomal recessive disorder characterized by central obesity, polydactyly, hypogonadism, learning difficulties, rod-cone dystrophy and renal dysplasia. Bardet-Biedl Syndrome has a prevalence rate ranging from 1 in 100,000 to 1 in 160,000 births although there

  8. A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome

    DEFF Research Database (Denmark)

    Clendenning, Mark; Senter, Leigha; Hampel, Heather; Robinson, Kristina Lagerstedt; Sun, Shuying; Buchanan, Daniel; Walsh, Michael D; Nilbert, Mef; Green, Jane S; Potter, John; Lindblom, Annika; de la Chapelle, Albert

    2008-01-01

    BACKGROUND: When compared to the other mismatch repair genes involved in Lynch syndrome, the identification of mutations within PMS2 has been limited (<2% of all identified mutations), yet the immunohistochemical analysis of tumour samples indicates that approximately 5% of Lynch syndrome cases a...

  9. CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome

    NARCIS (Netherlands)

    Van Der Werf, Christine S.; Wabbersen, Tara D.; Hsiao, Nai-Hua; Paredes, Joana; Etchevers, Heather C.; Kroisel, Peter M.; Tibboel, Dick; Babarit, Candice; Schreiber, Richard A.; Hoffenberg, Edward J.; Vekemans, Michel; Zeder, Sirkka L.; Ceccherini, Isabella; Lyonnet, Stanislas; Ribeiro, Ana S.; Seruca, Raquel; Meerman, Gerard J. Te; van Ijzendoorn, Sven C. D.; Shepherd, Iain T.; Verheij, Joke B. G. M.; Hofstra, Robert M. W.

    2012-01-01

    BACKGROUND & AIMS: Short-bowel syndrome usually results from surgical resection of the small intestine for diseases such as intestinal atresias, volvulus, and necrotizing enterocolitis. Patients with congenital short-bowel syndrome (CSBS) are born with a substantial shortening of the small intestine

  10. Orbital Apex Syndrome Caused by Invasive Aspergillosis as an Adverse Effect of Systemic Chemotherapy for Metastatic Colorectal Cancer: a Case Report.

    Science.gov (United States)

    Miyamoto, Yuji; Sakamoto, Yasuo; Ohuchi, Mayuko; Tokunaga, Ryuma; Shigaki, Hironobu; Kurashige, Junji; Iwatsuki, Masaaki; Baba, Yoshifumi; Yoshida, Naoya; Watanabe, Masayuki; Baba, Hideo

    2016-02-01

    Continuous therapy with cytotoxic drugs suppresses humoral immune function and may result in local infection. We present a case of orbital apex syndrome caused by Aspergillus infection during chemotherapy for metastatic colorectal cancer. A 74-year-old man with colorectal liver metastases under long-term continuous systemic chemotherapy presented with painful, progressive orbital apex syndrome. Magnetic resonance imaging disclosed a small enhancing lesion around the right ethmoid sinus. We initially diagnosed colorectal cancer metastasis and he underwent biopsy via the endoscopic endonasal transethmoid approach. However, pathological examination of the cultured specimen revealed Aspergillus fumigatus. The patient was treated with voriconazole and the orbital apex syndrome resolved after 1 month. Orbital aspergillosis is a life-threatening disease and should be listed as a differential diagnosis of uncommon local infections during continuous chemotherapy. PMID:26851046

  11. What Causes Down Syndrome?

    Science.gov (United States)

    ... random during the formation of an egg or sperm. To date, no behavioral activity of the parents ... the extra copy of chromosome 21 through the sperm. In the remaining cases, the error occurs after ...

  12. Intracerebral hemorrhage associated with Sneddon's syndrome: is ischemia-related angiogenesis the cause? Case report and review of the literature

    Energy Technology Data Exchange (ETDEWEB)

    Aquino Gondim, F. de A.; Leacock, R.O.; Subrammanian, T.A. [Department of Neurology, Saint Louis University Hospital, 3635 Vista Avenue at Grand Blvd, MO 63110, Saint Louis, MO (United States); Cruz-Flores, S. [Department of Neurology, Saint Louis University Hospital, 3635 Vista Avenue at Grand Blvd, MO 63110, Saint Louis, MO (United States); Neurology Service, John Cochran Veterans Administration Hospital, St. Louis, MO (United States)

    2003-06-01

    Sneddon's syndrome is characterized by livedo reticularis and multiple ischemic infarcts often associated with antiphospholipid antibodies. Intracerebral hemorrhage (ICH) is unusual in Sneddon's syndrome and has not been reported as the presenting complaint. We report a 38-year-old woman with a history of two miscarriages, Raynaud's phenomenon and livedo reticularis who presented acutely with ICH. Angiography showed prominent leptomeningeal and transdural anastomoses (pseudoangiomatosis). Anticardiolipin antibodies were positive. A right frontal brain biopsy failed to reveal vasculitis and a skin biopsy was nonspecific. MRI showed residual intracerebral hemorrhage (ICH), diffuse atrophy, multiple small white matter infarcts and leptomeningeal enhancement. This is the first report of Sneddon's syndrome presenting with an ICH. It shares features with the Divry-van Bogaert syndrome. We discuss the cause of the pseudoangiomatosis pattern and its role in the genesis of the hemorrhage and suggest that cerebral angiography should be done in every patient with Sneddon's syndrome, as it could impact therapy. (orig.)

  13. A Rare Cause of Persistent Pulmonary Hypertension Resistant to Therapy in The Newborn: Short-Rib Polydactyly Syndrome

    Directory of Open Access Journals (Sweden)

    Nihat Demir

    2015-01-01

    Full Text Available Short-rib polydactyly syndrome is an autosomal recessively inherited lethal skeletal dysplasia. The syndrome is characterized by marked narrow fetal thorax, short extremities, micromelia, cleft palate/lip, polydactyly, cardiac and renal abnormalities, and genital malformations. In cases with pulmonary hypoplasia, persistent pulmonary hypertension of the newborn can develop. In this paper, we present a term newborn with persistent pulmonary hypertension of the newborn, which has developed secondary to short-rib polydactyly syndrome and was resistant to therapy with inhaled nitric oxide and oral sildenafil.

  14. Selective Impact of Disease on Coral Communities: Outbreak of White Syndrome Causes Significant Total Mortality of Acropora Plate Corals.

    Directory of Open Access Journals (Sweden)

    Jean-Paul A Hobbs

    Full Text Available Coral diseases represent a significant and increasing threat to coral reefs. Among the most destructive diseases is White Syndrome (WS, which is increasing in distribution and prevalence throughout the Indo-Pacific. The aim of this study was to determine taxonomic and spatial patterns in mortality rates of corals following the 2008 outbreak of WS at Christmas Island in the eastern Indian Ocean. WS mainly affected Acropora plate corals and caused total mortality of 36% of colonies across all surveyed sites and depths. Total mortality varied between sites but was generally much greater in the shallows (0-96% of colonies at 5 m depth compared to deeper waters (0-30% of colonies at 20 m depth. Site-specific mortality rates were a reflection of the proportion of corals affected by WS at each site during the initial outbreak and were predicted by the initial cover of live Acropora plate cover. The WS outbreak had a selective impact on the coral community. Following the outbreak, live Acropora plate coral cover at 5 m depth decreased significantly from 7.0 to 0.8%, while the cover of other coral taxa remained unchanged. Observations five years after the initial outbreak revealed that total Acropora plate cover remained low and confirmed that corals that lost all their tissue due to WS did not recover. These results demonstrate that WS represents a significant and selective form of coral mortality and highlights the serious threat WS poses to coral reefs in the Indo-Pacific.

  15. Hypoplastic left heart syndrome and the nutmeg lung pattern in utero: a cause and effect relationship or prognostic indicator?

    Energy Technology Data Exchange (ETDEWEB)

    Saul, David; Johnson, Ann M.; Victoria, Teresa [The Children' s Hospital of Philadelphia, Radiology Department, Philadelphia, PA (United States); Degenhardt, Karl; Rychik, Jack [The Children' s Hospital of Philadelphia, Cardiac Center and Fetal Heart Program, Philadelphia, PA (United States); Iyoob, Suzanne D.; Johnson, Mark P. [The Children' s Hospital of Philadelphia, Center for Fetal Diagnosis and Treatment, Philadelphia, PA (United States); Surrey, Lea F. [The Children' s Hospital of Philadelphia, Pathology Department, Philadelphia, PA (United States)

    2016-04-15

    Hypoplastic left heart syndrome (HLHS) is the third most common cause of critical congenital heart disease in newborns, and one of the most challenging forms to treat. Secondary pulmonary lymphangiectasia has been recognized in association with HLHS, an appearance described on fetal MRI as the ''nutmeg lung.'' To investigate the association of fetal nutmeg lung with HLHS survival. A retrospective search of the fetal MRI database was performed. The nutmeg lung pattern was defined as T2 heterogeneous signal with tubular structures radiating peripherally from the hila. Postnatal echocardiograms and charts were reviewed. Forty-four fetal MR studies met inclusion criteria, of which 4 patients (9%) had the nutmeg lung pattern and 3 of whom also had restrictive lesions. Mortality in this nutmeg lung group was 100% by 5 months of age. Of the 40 patients without nutmeg lung, mortality/orthotopic heart transplant (OHT) was 35%. Of these 40 patients without nutmeg lung, 5 had restriction on echo, 3 of whom died/had OHT before 5 months of age (60% of patients with restriction and non-nutmeg lung). There was a significantly higher incidence of restrictive lesions (P = 0.02) and mortality/OHT (P = 0.02) in patients with nutmeg lung compared to those without. The nutmeg lung MR appearance in HLHS fetuses is associated with increased mortality/OHT (100% in the first 5 months of life compared to 35% with HLHS alone). Not all patients with restrictive lesions develop nutmeg lung, and outcome is not as poor when restriction is present in isolation. Dedicated evaluation for nutmeg lung pattern on fetal MR studies may be useful to guide prognostication and aid clinicians in counseling parents of fetuses with HLHS. (orig.)

  16. A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.

    Science.gov (United States)

    McEntagart, Meriel; Williamson, Kathleen A; Rainger, Jacqueline K; Wheeler, Ann; Seawright, Anne; De Baere, Elfride; Verdin, Hannah; Bergendahl, L Therese; Quigley, Alan; Rainger, Joe; Dixit, Abhijit; Sarkar, Ajoy; López Laso, Eduardo; Sanchez-Carpintero, Rocio; Barrio, Jesus; Bitoun, Pierre; Prescott, Trine; Riise, Ruth; McKee, Shane; Cook, Jackie; McKie, Lisa; Ceulemans, Berten; Meire, Françoise; Temple, I Karen; Prieur, Fabienne; Williams, Jonathan; Clouston, Penny; Németh, Andrea H; Banka, Siddharth; Bengani, Hemant; Handley, Mark; Freyer, Elisabeth; Ross, Allyson; van Heyningen, Veronica; Marsh, Joseph A; Elmslie, Frances; FitzPatrick, David R

    2016-05-01

    Gillespie syndrome (GS) is characterized by bilateral iris hypoplasia, congenital hypotonia, non-progressive ataxia, and progressive cerebellar atrophy. Trio-based exome sequencing identified de novo mutations in ITPR1 in three unrelated individuals with GS recruited to the Deciphering Developmental Disorders study. Whole-exome or targeted sequence analysis identified plausible disease-causing ITPR1 mutations in 10/10 additional GS-affected individuals. These ultra-rare protein-altering variants affected only three residues in ITPR1: Glu2094 missense (one de novo, one co-segregating), Gly2539 missense (five de novo, one inheritance uncertain), and Lys2596 in-frame deletion (four de novo). No clinical or radiological differences were evident between individuals with different mutations. ITPR1 encodes an inositol 1,4,5-triphosphate-responsive calcium channel. The homo-tetrameric structure has been solved by cryoelectron microscopy. Using estimations of the degree of structural change induced by known recessive- and dominant-negative mutations in other disease-associated multimeric channels, we developed a generalizable computational approach to indicate the likely mutational mechanism. This analysis supports a dominant-negative mechanism for GS variants in ITPR1. In GS-derived lymphoblastoid cell lines (LCLs), the proportion of ITPR1-positive cells using immunofluorescence was significantly higher in mutant than control LCLs, consistent with an abnormality of nuclear calcium signaling feedback control. Super-resolution imaging supports the existence of an ITPR1-lined nucleoplasmic reticulum. Mice with Itpr1 heterozygous null mutations showed no major iris defects. Purkinje cells of the cerebellum appear to be the most sensitive to impaired ITPR1 function in humans. Iris hypoplasia is likely to result from either complete loss of ITPR1 activity or structure-specific disruption of multimeric interactions. PMID:27108798

  17. Hypoplastic left heart syndrome and the nutmeg lung pattern in utero: a cause and effect relationship or prognostic indicator?

    International Nuclear Information System (INIS)

    Hypoplastic left heart syndrome (HLHS) is the third most common cause of critical congenital heart disease in newborns, and one of the most challenging forms to treat. Secondary pulmonary lymphangiectasia has been recognized in association with HLHS, an appearance described on fetal MRI as the ''nutmeg lung.'' To investigate the association of fetal nutmeg lung with HLHS survival. A retrospective search of the fetal MRI database was performed. The nutmeg lung pattern was defined as T2 heterogeneous signal with tubular structures radiating peripherally from the hila. Postnatal echocardiograms and charts were reviewed. Forty-four fetal MR studies met inclusion criteria, of which 4 patients (9%) had the nutmeg lung pattern and 3 of whom also had restrictive lesions. Mortality in this nutmeg lung group was 100% by 5 months of age. Of the 40 patients without nutmeg lung, mortality/orthotopic heart transplant (OHT) was 35%. Of these 40 patients without nutmeg lung, 5 had restriction on echo, 3 of whom died/had OHT before 5 months of age (60% of patients with restriction and non-nutmeg lung). There was a significantly higher incidence of restrictive lesions (P = 0.02) and mortality/OHT (P = 0.02) in patients with nutmeg lung compared to those without. The nutmeg lung MR appearance in HLHS fetuses is associated with increased mortality/OHT (100% in the first 5 months of life compared to 35% with HLHS alone). Not all patients with restrictive lesions develop nutmeg lung, and outcome is not as poor when restriction is present in isolation. Dedicated evaluation for nutmeg lung pattern on fetal MR studies may be useful to guide prognostication and aid clinicians in counseling parents of fetuses with HLHS. (orig.)

  18. Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

    OpenAIRE

    Joe Rainger; Ellen van Beusekom; Jacqueline K Ramsay; Lisa McKie; Lihadh Al-Gazali; Rosanna Pallotta; Anita Saponari; Peter Branney; Malcolm Fisher; Harris Morrison; Louise Bicknell; Philippe Gautier; Paul Perry; Kishan Sokhi; David Sexton

    2011-01-01

    Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly bilateral anophthalmia, with post-axial oligosyndactyly. Homozygosity mapping and subsequent targeted mutation analysis of a locus on 14q24.2 identified homozygous mutations in SMOC1 (SPARC-related modular calcium binding 1) in eight unrelated families. Four of these mutations are nonsense, two frame-shift, and two missense. The missense mutati...

  19. Hemichorea Hemiballism Syndrome: The First Presentation of Type 2 Diabetes Mellitus as a Rare Cause of Chorea

    Directory of Open Access Journals (Sweden)

    P. Mittal

    2011-06-01

    Full Text Available Hemichorea-hemiballism (HCHB syndrome, which is most commonly related to non-ketotic"nhyperglycemia, is a rare type of chorea. Here, we present an unusual case of HCHB syndrome who"nwas not a known case of diabetes. This case highlights the importance of recognising underlying"nnon-ketotic hyperglycemia, as control of hyperglycemia is helpful in the quick relief of symptoms.

  20. Hemi chorea hemiballism syndrome: the first presentation of type 2 diabetes mellitus as a rare cause of chorea

    International Nuclear Information System (INIS)

    Hemi chorea-hemiballism syndrome, which is most commonly related to non-ketotic hyperglycemia, is a rare type of chorea. Here, we present an unusual case of Hemi chorea-hemiballism syndrome who was not a known case of diabetes. This case highlights the importance of recognising underlying non-ketotic hyperglycemia, as control of hyperglycemia is helpful in the quick relief of symptoms.

  1. Revisiting the craniosynostosis‐radial ray hypoplasia association: Baller‐Gerold syndrome caused by mutations in the RECQL4 gene

    Science.gov (United States)

    Van Maldergem, L; Siitonen, H A; Jalkh, N; Chouery, E; De Roy, M; Delague, V; Muenke, M; Jabs, E W; Cai, J; Wang, L L; Plon, S E; Fourneau, C; Kestilä, M; Gillerot, Y; Mégarbané, A; Verloes, A

    2006-01-01

    Baller‐Gerold syndrome (BGS) is a rare autosomal recessive condition with radial aplasia/hypoplasia and craniosynostosis (OMIM 218600). Of >20 cases reported so far, a few appear atypical and have been reassigned to other nosologic entities, including Fanconi anaemia, Roberts SC phocomelia, and Pfeiffer syndromes after demonstration of corresponding cytogenetic or molecular abnormalities. Clinical overlap between BGS, Rothmund‐Thomson syndrome (RTS), and RAPADILINO syndrome is noticeable. Because patients with RAPADILINO syndrome and a subset of patients with RTS have RECQL4 mutations, we reassessed two previously reported BGS families and found causal mutations in RECQL4 in both. In the first family, four affected offspring had craniosynostosis and radial defect and one of them developed poikiloderma. In this family, compound heterozygosity for a R1021W missense mutation and a g.2886delT frameshift mutation of exon 9 was found. In the second family, the affected male had craniosynostosis, radial ray defect, poikiloderma, and short stature. He had a homozygous splice site mutation (IVS17‐2A>C). In both families, the affected offspring had craniosynostosis, radial defects, and growth retardation, and two developed poikiloderma. Our results confirm that BGS in a subgroup of patients is due to RECQL4 mutations and could be integrated into a clinical spectrum that encompasses RTS and RAPADILINO syndrome. PMID:15964893

  2. Analysis of Large Phenotypic Variability of EEC and SHFM4 Syndromes Caused by K193E Mutation of the TP63 Gene

    OpenAIRE

    Jianhua Wei; Yang Xue; Lian Wu; Jie Ma; Xiuli Yi; Junrui Zhang; Bin Lu; Chunying Li; Dashuang Shi; Songtao Shi; Xinghua Feng; Tao Cai

    2012-01-01

    EEC (ectrodactyly, ectodermal dysplasia, clefting; OMIM 604292) is an autosomal dominant developmental disorder resulting mainly from pathogenic mutations of the DNA-binding domain (DBD) of the TP63 gene. In this study, we showed that K193E mutation in nine affected individuals of a four-generation kindred with a large degree of phenotypic variability causes four different syndromes or TP63-related disorders: EEC, Ectrodactyly-ectodermal dysplasia (EE), isolated ectodermal dysplasia, and isol...

  3. Unidentified Chronic Fatigue Syndrome/myalgic encephalomyelitis (CFS/ME) is a major cause of school absence: surveillance outcomes from school-based clinics

    OpenAIRE

    Crawley, Esther M; Emond, Alan M; Sterne, Jonathan A C

    2011-01-01

    Objective To investigate the feasibility of conducting clinics for chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME) in schools. Design School-based clinical project. Participants Children aged 11–16 years were enrolled in three state secondary schools in England. Main outcome measures Number of children newly diagnosed as having CFS/ME. Methods Attendance officers identified children missing ≥20% of school in a 6-week term without a known cause, excluding those with a single episod...

  4. Posttraumatic stress due to an acute coronary syndrome increases risk of 42-month major adverse cardiac events and all-cause mortality

    OpenAIRE

    Edmondson, Donald; Rieckmann, Nina; Shaffer, Jonathan A.; Joseph E Schwartz; Burg, Matthew M.; Davidson, Karina W.; Clemow, Lynn; Shimbo, Daichi; Kronish, Ian M.

    2011-01-01

    Approximately 15% of patients with acute coronary syndromes (ACS) develop posttraumatic stress disorder (PTSD) due to their ACS event. We assessed whether ACS-induced PTSD symptoms increase risk for major adverse cardiac events (MACE) and all-cause mortality (ACM) in an observational cohort study of 247 patients (aged 25–93 years; 45% women) hospitalized for an ACS at one of 3 academic medical centers in New York and Connecticut between November 2003 and June 2005. Within 1 week of admission,...

  5. Alagille syndrome.

    OpenAIRE

    Krantz, I D; Piccoli, D A; Spinner, N B

    1997-01-01

    Alagille syndrome (OMIM 118450) is an autosomal dominant disorder associated with abnormalities of the liver, heart, eye, skeleton, and a characteristic facial appearance. Also referred to as the Alagille-Watson syndrome, syndromic bile duct paucity, and arteriohepatic dysplasia, it is a significant cause of neonatal jaundice and cholestasis in older children. In the fully expressed syndrome, affected subjects have intrahepatic bile duct paucity and cholestasis, in conjunction with cardiac ma...

  6. Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2.

    Science.gov (United States)

    Amary, M Fernanda; Damato, Stephen; Halai, Dina; Eskandarpour, Malihe; Berisha, Fitim; Bonar, Fiona; McCarthy, Stan; Fantin, Valeria R; Straley, Kimberly S; Lobo, Samira; Aston, Will; Green, Claire L; Gale, Rosemary E; Tirabosco, Roberto; Futreal, Andrew; Campbell, Peter; Presneau, Nadège; Flanagan, Adrienne M

    2011-12-01

    Ollier disease and Maffucci syndrome are characterized by multiple central cartilaginous tumors that are accompanied by soft tissue hemangiomas in Maffucci syndrome. We show that in 37 of 40 individuals with these syndromes, at least one tumor has a mutation in isocitrate dehydrogenase 1 (IDH1) or in IDH2, 65% of which result in a R132C substitution in the protein. In 18 of 19 individuals with more than one tumor analyzed, all tumors from a given individual shared the same IDH1 mutation affecting Arg132. In 2 of 12 subjects, a low level of mutated DNA was identified in non-neoplastic tissue. The levels of the metabolite 2HG were measured in a series of central cartilaginous and vascular tumors, including samples from syndromic and nonsyndromic subjects, and these levels correlated strongly with the presence of IDH1 mutations. The findings are compatible with a model in which IDH1 or IDH2 mutations represent early post-zygotic occurrences in individuals with these syndromes. PMID:22057236

  7. Sudden Cause of Cardiac Death—Be Aware of Me: A Case Report and Short Review on Brugada Syndrome

    Directory of Open Access Journals (Sweden)

    Jagadeesh K. Kalavakunta

    2010-01-01

    Full Text Available Introduction. Brugada syndrome accounts for about 4% of sudden cardiac deaths (SCD. It is characterized by an ST-segment elevation in the right precordial electrocardiogram (EKG leads. Case Presentation. We describe a 39-year-old healthy Caucasian man who was admitted to the intensive care unit after being cardioverted from ventricular fibrillation (VF arrest. His past history was significant for an episode of syncope one month prior to this presentation for which he was admitted to an outlying hospital. EKG during that admission showed ST elevations in V1 and V2 leads, a pattern similar to Type 1 Brugada. A diagnosis of Brugada syndrome was missed and the patient had a cardiac arrest a month later. We discuss a short review of Brugada syndrome and emphasize the need to look for it in patients presenting with SCD and malignant arrhythmias. Conclusion. Physicians should always consider Brugada syndrome in the differential diagnosis of ST-segment elevation in anterior precordial leads of EKG and associated VT/VF. Although more than 17 years have passed since the first case was reported, increased awareness of this syndrome is needed to identify patients with EKG changes and treat them accordingly to prevent incidence of (SCD and its deleterious complications.

  8. The nature and causes of the global water crisis: Syndromes from a meta-analysis of coupled human-water studies

    Science.gov (United States)

    Srinivasan, V.; Lambin, E. F.; Gorelick, S. M.; Thompson, B. H.; Rozelle, S.

    2012-10-01

    Freshwater scarcity has been cited as the major crisis of the 21st century, but it is surprisingly hard to describe the nature of the global water crisis. We conducted a meta-analysis of 22 coupled human-water system case studies, using qualitative comparison analysis (QCA) to identify water resource system outcomes and the factors that drive them. The cases exhibited different outcomes for human wellbeing that could be grouped into a six "syndromes": groundwater depletion, ecological destruction, drought-driven conflicts, unmet subsistence needs, resource capture by elite, and water reallocation to nature. For syndromes that were not successful adaptations, three characteristics gave cause for concern: (1) unsustainability—a decline in the water stock or ecosystem function that could result in a long-term steep decline in future human wellbeing; (2) vulnerability—high variability in water resource availability combined with inadequate coping capacity, leading to temporary drops in human wellbeing; (3) chronic scarcity—persistent inadequate access and hence low conditions of human wellbeing. All syndromes could be explained by a limited set of causal factors that fell into four categories: demand changes, supply changes, governance systems, and infrastructure/technology. By considering basins as members of syndrome classes and tracing common causal pathways of water crises, water resource analysts and planners might develop improved water policies aimed at reducing vulnerability, inequity, and unsustainability of freshwater systems.

  9. A novel TRPS1 gene mutation causing trichorhinophalangeal syndrome with growth hormone responsive short stature: a case report and review of the literature.

    Science.gov (United States)

    Merjaneh, Lina; Parks, John S; Muir, Andrew B; Fadoju, Doris

    2014-01-01

    The role of growth hormone (GH) and its therapeutic supplementation in the trichorhinophalangeal syndrome type I (TRPS I) is not well delineated. TRPS I is a rare congenital syndrome, characterized by craniofacial and skeletal malformations including short stature, sparse, thin scalp hair and lateral eyebrows, pear-shaped nose, cone shaped epiphyses and hip dysplasia. It is inherited in an autosomal dominant manner and caused by haploinsufficiency of the TRPS1 gene. We report a family (Mother and 3 of her 4 children) with a novel mutation in the TRPS1 gene. The diagnosis was suspected only after meeting all family members and comparing affected and unaffected siblings since the features of this syndrome might be subtle. The eldest sibling, who had neither GH deficiency nor insensitivity, improved his growth velocity and height SDS after 2 years of treatment with exogenous GH. No change in growth velocity was observed in the untreated siblings during this same period. This report emphasizes the importance of examining all family members when suspecting a genetic syndrome. It also demonstrates the therapeutic effect of GH treatment in TRPS I despite normal GH-IGF1 axis. A review of the literature is included to address whether TRPS I is associated with: a) GH deficiency, b) GH resistance, or c) GH-responsive short stature. More studies are needed before recommending GH treatment for TRPS I but a trial should be considered on an individual basis. PMID:25177352

  10. De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

    Science.gov (United States)

    Chong, Jessica X.; McMillin, Margaret J.; Shively, Kathryn M.; Beck, Anita E.; Marvin, Colby T.; Armenteros, Jose R.; Buckingham, Kati J.; Nkinsi, Naomi T.; Boyle, Evan A.; Berry, Margaret N.; Bocian, Maureen; Foulds, Nicola; Uzielli, Maria Luisa Giovannucci; Haldeman-Englert, Chad; Hennekam, Raoul C.M.; Kaplan, Paige; Kline, Antonie D.; Mercer, Catherine L.; Nowaczyk, Malgorzata J.M.; Klein Wassink-Ruiter, Jolien S.; McPherson, Elizabeth W.; Moreno, Regina A.; Scheuerle, Angela E.; Shashi, Vandana; Stevens, Cathy A.; Carey, John C.; Monteil, Arnaud; Lory, Philippe; Tabor, Holly K.; Smith, Joshua D.; Shendure, Jay; Nickerson, Deborah A.; Bamshad, Michael J.; Shendure, Jay; Nickerson, Deborah A.; Abecasis, Gonçalo R.; Anderson, Peter; Blue, Elizabeth Marchani; Annable, Marcus; Browning, Brian L.; Buckingham, Kati J.; Chen, Christina; Chin, Jennifer; Chong, Jessica X.; Cooper, Gregory M.; Davis, Colleen P.; Frazar, Christopher; Harrell, Tanya M.; He, Zongxiao; Jain, Preti; Jarvik, Gail P.; Jimenez, Guillaume; Johanson, Eric; Jun, Goo; Kircher, Martin; Kolar, Tom; Krauter, Stephanie A.; Krumm, Niklas; Leal, Suzanne M.; Luksic, Daniel; Marvin, Colby T.; McMillin, Margaret J.; McGee, Sean; O’Reilly, Patrick; Paeper, Bryan; Patterson, Karynne; Perez, Marcos; Phillips, Sam W.; Pijoan, Jessica; Poel, Christa; Reinier, Frederic; Robertson, Peggy D.; Santos-Cortez, Regie; Shaffer, Tristan; Shephard, Cindy; Shively, Kathryn M.; Siegel, Deborah L.; Smith, Joshua D.; Staples, Jeffrey C.; Tabor, Holly K.; Tackett, Monica; Underwood, Jason G.; Wegener, Marc; Wang, Gao; Wheeler, Marsha M.; Yi, Qian; Bamshad, Michael J.

    2015-01-01

    Freeman-Sheldon syndrome, or distal arthrogryposis type 2A (DA2A), is an autosomal-dominant condition caused by mutations in MYH3 and characterized by multiple congenital contractures of the face and limbs and normal cognitive development. We identified a subset of five individuals who had been putatively diagnosed with “DA2A with severe neurological abnormalities” and for whom congenital contractures of the limbs and face, hypotonia, and global developmental delay had resulted in early death in three cases; this is a unique condition that we now refer to as CLIFAHDD syndrome. Exome sequencing identified missense mutations in the sodium leak channel, non-selective (NALCN) in four families affected by CLIFAHDD syndrome. We used molecular-inversion probes to screen for NALCN in a cohort of 202 distal arthrogryposis (DA)-affected individuals as well as concurrent exome sequencing of six other DA-affected individuals, thus revealing NALCN mutations in ten additional families with “atypical” forms of DA. All 14 mutations were missense variants predicted to alter amino acid residues in or near the S5 and S6 pore-forming segments of NALCN, highlighting the functional importance of these segments. In vitro functional studies demonstrated that NALCN alterations nearly abolished the expression of wild-type NALCN, suggesting that alterations that cause CLIFAHDD syndrome have a dominant-negative effect. In contrast, homozygosity for mutations in other regions of NALCN has been reported in three families affected by an autosomal-recessive condition characterized mainly by hypotonia and severe intellectual disability. Accordingly, mutations in NALCN can cause either a recessive or dominant condition characterized by varied though overlapping phenotypic features, perhaps based on the type of mutation and affected protein domain(s). PMID:25683120

  11. Narcotic Bowel Syndrome

    Science.gov (United States)

    ... Intolerance Malabsorption Narcotic Bowel Syndrome Radiation Therapy Injury Short Bowel Syndrome Symptoms & Causes Treatments Nutrition and Diet Managing Secondary Effects Medications Surgery Daily Living with SBS Resources SMA Syndrome Volvulus ...

  12. Waardenburg syndrome.

    OpenAIRE

    Read, A P; Newton, V E

    1997-01-01

    Auditory-pigmentary syndromes are caused by physical absence of melanocytes from the skin, hair, eyes, or the stria vascularis of the cochlea. Dominantly inherited examples with patchy depigmentation are usually labelled Waardenburg syndrome (WS). Type I WS, characterised by dystopia canthorum, is caused by loss of function mutations in the PAX3 gene. Type III WS (Klein-Waardenburg syndrome, with abnormalities of the arms) is an extreme presentation of type I; some but not all patients are ho...

  13. Mutations in the SPARC-Related Modular Calcium-Binding Protein 1 Gene, SMOC1, Cause Waardenburg Anophthalmia Syndrome

    OpenAIRE

    Abouzeid, Hana; Boisset, Gaëlle; Favez, Tatiana; Youssef, Mohamed; Marzouk, Iman; Shakankiry, Nihal; Bayoumi, Nader; Descombes, Patrick; Agosti, Céline; Munier, Francis L.; Schorderet, Daniel F.

    2011-01-01

    Waardenburg anophthalmia syndrome, also known as microphthalmia with limb anomalies, ophthalmoacromelic syndrome, and anophthalmia-syndactyly, is a rare autosomal-recessive developmental disorder that has been mapped to 10p11.23. Here we show that this disease is heterogeneous by reporting on a consanguineous family, not linked to the 10p11.23 locus, whose two affected children have a homozygous mutation in SMOC1. Knockdown experiments of the zebrafish smoc1 revealed that smoc1 is important i...

  14. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Akcan AB.

    2013-06-01

    Full Text Available Turner syndrome is an important cause of short stature in girls and primer amenorrhea in young women that is usually caused by loss of part or all of an X chromosome. This topic will review the clinical manifestations, diagnosis and management of Turner syndrome.

  15. Uveitis-glaucoma-hyphema syndrome caused by posterior chamber intraocular lens--a rare complication in pediatric cataract surgery.

    Science.gov (United States)

    Lin, Chun-Ju; Tan, Chau-Yi; Lin, Szu-Yuan; Jou, Jieh-Ren

    2008-01-01

    We report a case of postoperative uveitis-glaucome-hyphema (UGH) syndrome following pediatric cataract surgery due to posterior chamber intraocular lens (PC-IOL). Slit-lamp examination revealed the optic of PC-IOL migrated into anterior chamber. The PC-IOL explantation was performed and ocular inflammation subsided. PMID:19230361

  16. Allelic mutations of KITLG, encoding KIT ligand, cause asymmetric and unilateral hearing loss and Waardenburg syndrome type 2

    NARCIS (Netherlands)

    Zazo Seco, C. (Celia); Serrão De Castro, L. (Luciana); J.W.I. van Nierop; Morín, M. (Matías); Jhangiani, S. (Shalini); Verver, E.J.J. (Eva J.J.); M. Schraders (Margit); Maiwald, N. (Nadine); Wesdorp, M. (Mieke); H. Venselaar (Hanka); L. Spruijt (Liesbeth); Oostrik, J. (Jaap); J. Schoots (Jeroen); J. van Reeuwijk (Jeroen); Lelieveld, S.H. (Stefan H.); P.L.M. Huygen (Patrick); Insenser, M. (María); R.J. Admiraal (Ronald); Pennings, R.J.E. (Ronald J.E.); E.H. Hoefsloot (Lies); A. Arias-Vásquez (Alejandro); J. de Ligt (Joep); H.G. Yntema; Jansen, J.H. (Joop H.); D. Muzny (Donna); G. Huls (Gerwin); M.M. van Rossum; Lupski, J.R. (James R.); Moreno-Pelayo, M.A. (Miguel Angel); Kunst, H.P.M. (Henricus P.M.); H. Kremer (Hannie)

    2015-01-01

    textabstractLinkage analysis combined with whole-exome sequencing in a large family with congenital and stable non-syndromic unilateral and asymmetric hearing loss (NS-UHL/AHL) revealed a heterozygous truncating mutation, c.286-303delinsT (p.Ser96Ter), in KITLG. This mutation co-segregated with NS-U

  17. [Congenital long QT-syndrome: the cause of recurrent syncope and sudden death at a young age

    NARCIS (Netherlands)

    Akkerhuis, J.M.; Baars, H.F.; Marcelis, C.L.M.; Akkerhuis, K.M.; Wilde, A.A.M.

    2007-01-01

    Congenital long QT-syndrome (LQTS) was diagnosed in three patients. The first patient, a 10-year-old girl, presented with recurrent episodes of syncope during swimming and was diagnosed with type 1 LQTS. The second patient, a 36-year-old asymptomatic man, was accidentally diagnosed with type 2 LQTS.

  18. 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...

  19. Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene

    NARCIS (Netherlands)

    K. Nikopoulos (Konstantinos); I. Schrauwen (Isabelle); M.E.H. Simon (Marleen); R.W.J. Collin (Rob); M.A.H. Veckeneer (Marc); K. Keymolen (Kathelijn); G. van Camp (Guy); F.P.M. Cremers (Frans); L. Ingeborgh van den Born

    2011-01-01

    textabstractPurpose. To investigate COL9A1 in two families suggestive of autosomal recessive Stickler syndrome and to delineate the associated phenotype. Methods. The probands of two consanguineous autosomal recessive Stickler families were evaluated for homozygosity using SNP microarray in one and

  20. Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene

    NARCIS (Netherlands)

    Nikopoulos, K.; Schrauwen, I.; Simon, M.; Collin, R.W.J.; Veckeneer, M.; Keymolen, K.; Camp, G. van; Cremers, F.P.M.; Born, L.I. van den

    2011-01-01

    PURPOSE: To investigate COL9A1 in two families suggestive of autosomal recessive Stickler syndrome and to delineate the associated phenotype. METHODS: The probands of two consanguineous autosomal recessive Stickler families were evaluated for homozygosity using SNP microarray in one and haplotype an

  1. Hemolytic Uremic Syndrome in Children

    Science.gov (United States)

    ... KB)​​​​​ Alternate Language URL Hemolytic Uremic Syndrome in Children Page Content On this page: What is hemolytic ... spine. [ Top ] What causes hemolytic uremic syndrome in children? The most common cause of hemolytic uremic syndrome ...

  2. Decreased affinity for oxygen of cytochrome-c oxidase in Leigh syndrome caused by SURF1 mutations.

    Science.gov (United States)

    Pecina, Petr; Gnaiger, Erich; Zeman, Jirí; Pronicka, Ewa; Houstek, Josef

    2004-11-01

    Mutations in the gene SURF1 prevent synthesis of cytochrome-c oxidase (COX)-specific assembly protein and result in a fatal neurological disorder, Leigh syndrome. Because this severe COX deficiency presents with barely detectable changes of cellular respiratory rates under normoxic conditions, we analyzed the respiratory response to low oxygen in cultured fibroblasts harboring SURF1 mutations with high-resolution respirometry. The oxygen kinetics was quantified by the partial pressure of oxygen (PO2) at half-maximal respiration rate (P50) in intact coupled cells and in digitonin-permeabilized uncoupled cells. In both cases, the P50 in patients was elevated 2.1- and 3.3-fold, respectively, indicating decreased affinity of COX for oxygen. These results suggest that at physiologically low intracellular PO2, the depressed oxygen affinity may lead in vivo to limitations of respiration, resulting in impaired energy provision in Leigh syndrome patients. PMID:15269007

  3. Epidemiological and pathogenic study on the outbreak of toxic shock syndrome and meningocephalitis caused by swine streptococcus

    Institute of Scientific and Technical Information of China (English)

    唐家琪; 白薇; 朱进; 郭恒彬; 胡晓抒; 朱凤才; 刘光中

    2004-01-01

    Objective: To reveal the relationship between the biological characteristics of pathogen and the pig-to-human spread of the epidemic and infectious disease in 1998 in East China. Methods: Epidemiological survey, pathological examination of pigs and patients, and pathogen isolation were performed. Results: The disease had a character of quick onset, serious symptoms, short course and high mortality. The clinical manifestations and pathological changes of the disease were high fever, sometimes with nausea, vomiting and diarrhea, then might develop to myositis, fascitis, DIC, multiple organ failure, shock and usually died in 2-3 d. Among 25 patients, 16 manifested clinically as streptococcal toxic shock syndromes and 9 streptococcal meningiocephalitis syndrome. The mortality was 81.25% and 11.11% respectively. Pathogenic bacteria isolated from diseased pigs and patients were found to have some common characteristics in morphology, staining and biological characters. Conclusion: The pathogen isolated from the blood of patients and pigs were identified as streptococci.

  4. The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods

    OpenAIRE

    Dietrich, Andrea; Fernandez, Thomas V.; King, Robert A.; State, Matthew W.; Tischfield, Jay A.; Pieter J Hoekstra; Heiman, Gary A.; ,

    2014-01-01

    Tourette syndrome (TS) is a neuropsychiatric disorder characterized by recurrent motor and vocal tics, often accompanied by obsessive–compulsive disorder and/or attention-deficit/hyperactivity disorder. While the evidence for a genetic contribution is strong, its exact nature has yet to be clarified fully. There is now mounting evidence that the genetic risks for TS include both common and rare variants and may involve complex multigenic inheritance or, in rare cases, a single major gene. Bas...

  5. The microsporidian Enterocytozoon hepatopenaei is not the cause of white feces syndrome in whiteleg shrimp Penaeus (Litopenaeus) vannamei

    OpenAIRE

    Tangprasittipap, Amornrat; Srisala, Jiraporn; Chouwdee, Saisunee; Somboon, Montagan; Chuchird, Niti; Limsuwan, Chalor; Srisuvan, Thinnarat; Flegel, Timothy W; Sritunyalucksana, Kallaya

    2013-01-01

    Background The microsporidian Enterocytozoon hepatopenaei was first described from Thailand in 2009 in farmed, indigenous giant tiger shrimp Penaeus (Penaeus) monodon. The natural reservoir for the parasite is still unknown. More recently, a microsporidian closely resembling it in morphology and tissue preference was found in Thai-farmed, exotic, whiteleg shrimp Penaeus (Litopenaeus) vannamei exhibiting white feces syndrome (WFS). Our objective was to compare the newly found pathogen with E. ...

  6. Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects.

    OpenAIRE

    Hennekam, R. C.; Tilanus, M; Hamel, B C; Voshart-van Heeren, H; Mariman, E.C.; van Beersum, S. E.; van den Boogaard, M. J.; Breuning, M H

    1993-01-01

    In the accompanying paper, a chromosomal localization of the Rubinstein-Taybi syndrome by cytogenetic investigations with fluorescence in situ hybridization techniques at chromosome 16p13.3 is described. We investigated 19 of these patients and their parents (a) to ascertain the parental origin of the chromosome with the deletion in families where such a deletion was detected, (b) to disclose whether uniparental disomy plays a role in etiology, and (c) to compare clinical features in patients...

  7. A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome

    OpenAIRE

    Lim, Sze Chern; Smith, Katherine R.; Stroud, David A.; Compton, Alison G.; Tucker, Elena J.; Dasvarma, Ayan; Gandolfo, Luke C.; Marum, Justine E.; McKenzie, Matthew; Peters, Heidi L.; Mowat, David; Procopis, Peter G.; Wilcken, Bridget; Christodoulou, John; Brown, Garry K.

    2014-01-01

    Leigh syndrome (LS) is a severe neurodegenerative disorder with characteristic bilateral lesions, typically in the brainstem and basal ganglia. It usually presents in infancy and is genetically heterogeneous, but most individuals with mitochondrial complex IV (or cytochrome c oxidase) deficiency have mutations in the biogenesis factor SURF1. We studied eight complex IV-deficient LS individuals from six families of Lebanese origin. They differed from individuals with SURF1 mutations in having ...

  8. Occupational Rhinoconjunctivitis and Asthma Caused by Chicory and Oral Allergy Syndrome Associated With Bet v 1-Related Protein

    OpenAIRE

    Pirson, F.; Pilette, Charles; Detry, Bruno

    2009-01-01

    We report the case of a patient working in a factory producing inulin from chicory who developed rhinoconjunctivitis and asthma to the dust of dry chicory roots and oral allergy syndrome to raw fruits and vegetables. Nonspecific bronchial hyperresponsiveness was diagnosed. A provocation test with dry chicory induced acute rhinoconjunctivitis and an immediate asthmatic response with no further clinical symptoms. Skin prick test results were positive to birch pollen and fresh/dry chicory, and n...

  9. Amifostine ameliorates recognition memory defect in acute radiation syndrome caused by relatively low-dose of gamma radiation

    OpenAIRE

    Lee, Hae-June; Kim, Joong-Sun; Song, Myoung-Sub; Seo, Heung-Sik; Yang, Miyoung; Kim, Jong Choon; Jo, Sung-Kee; Shin, Taekyun; Moon, Changjong; Kim, Sung-Ho

    2010-01-01

    This study examined whether amifostine (WR-2721) could attenuate memory impairment and suppress hippocampal neurogenesis in adult mice with the relatively low-dose exposure of acute radiation syndrome (ARS). These were assessed using object recognition memory test, the terminal deoxynucleotidyl transferase-mediated dUTP nick end-labeling assay, and immunohistochemical markers of neurogenesis [Ki-67 and doublecortin (DCX)]. Amifostine treatment (214 mg/kg, i.p.) prior to irradiation significan...

  10. Gastrointestinal Endometriosis Causing Subacute Intestinal Obstruction with Gradual Development of Weight Loss and Misdiagnosed as Irritable Bowel Syndrome

    OpenAIRE

    Soumekh, Amir; Nagler, Jerry

    2014-01-01

    Both endometriosis and irritable bowel syndrome (IBS) are commonly found in young women and the diagnosis of either is challenging. Alarm symptoms can exclude the diagnosis of IBS, but their onset may be insidious and often no evidence of organic disease may be found. We present a patient with a 4-year history of presumed IBS, absent gynecological symptoms, negative gastrointestinal as well as gynecological testing who developed the only alarm symptom of weight loss and was eventually found t...

  11. A Case of Ischemic Duodenitis Associated with Superior Mesenteric Artery Syndrome Caused by an Abdominal Aortic Aneurysm

    OpenAIRE

    OKUYAMA, Yusuke; Kawakami, Takumi; Ito, Haruki; Otsuka, Hirotomo; Enoki, Yasuyuki; Nishimura, Masahito; Yoshida, Norimasa; Fujimoto, Sotaro

    2011-01-01

    A 74-year-old woman was admitted to our hospital with upper abdominal pain and bloody vomiting. An abdominal aneurysm compressed the third portion of the duodenum and the second portion of duodenum was distended with thickened walls as in superior mesenteric artery syndrome. Endoscopic examination showed an edematous mucosa with hemorrhagic erosions, shallow longitudinal ulcers, and star-shaped ulcers in the duodenum. We diagnosed this case as ischemic duodenitis associated with superior mese...

  12. Distal renal tubular acidosis as a cause of osteomalacia in a patient with primary Sjögren's syndrome

    Directory of Open Access Journals (Sweden)

    Jovelić Aleksandra

    2005-01-01

    Full Text Available Background. One half of the patients with primary Sjögren’s syndrome has extraglandular manifestations, including renal involvement. The most frequent renal lesion is tubulo-interstitial nephritis, which manifests clinically as distal tubular acidosis and may result in the development of osteomalacia. Case report. In a 29 - year-old female patient, with bilateral nephrolithiasis, the diagnosis of primary Sjögren’s syndrome, tubulo-interstitial nephritis, distal renal tubular acidosis, and hypokalemia were established. She was treated for hypokalemia. Two years later she developed bone pains and muscle weakness, she wasn’t able to walk, her proximal muscles and pelvic bones were painful, with radiological signs of pelvic bones osteopenia and pubic bones fractures. The diagnosis of osteomalacia was established and the treatment started with Schol’s solution, vitamin D and calcium. In the following two months, acidosis was corrected, and the patient started walking. Conclusion. In our patient with primary Sjögren’s syndrome and interstitial nephritis, osteomalacia was a result of the long time decompensate acidosis, so the correction of acidosis, and the supplementation of vitamin D and calcium were the integral part of the therapy.

  13. Pulmonary Langerhans Histiocytosis: an uncommon cause of interstitial pneumonia in a patient with Sjögren syndrome.

    Science.gov (United States)

    González García, Andrés; Callejas Rubio, José Luis; Ríos Fernández, Raquel; Ortego Centeno, Norberto

    2016-03-01

    Sjögren syndrome is a chronic, systemic, and autoimmune disorder that targets exocrine glands by remarkable B cell hyperactivity. Eventually, it is associated with extra-glandular clinical manifestations that affect essentially any organ system, including pulmonary involvement. Interstitial lung disease is one of the most serious pulmonary complications, and the early diagnosis is essential to initiate a prompt therapy. On the other hand, Sjögren syndrome could present concomitantly with several rheumatologic diseases such as systemic lupus erythematosus or rheumatoid arthritis. Pulmonary Langerhans Histiocytosis is a rare clonal proliferative disease characterized by pulmonary involvement by cells phenotypically similar to Langerhans cells. We describe the case of a nonsmoker 62-year-old woman with Sjögren syndrome who presented concomitantly a Pulmonary Langerhans Histiocytosis mimicking a pulmonary complication of its Sjögren. Fortunately, she had a well response to corticosteroids and azathioprine regimen. The aim of the paper is to emphasize the importance of the good differential diagnosis related to the pulmonary involvement. To the best of our knowledge, this is the first description of these two entities in the literature. PMID:25894436

  14. Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH syndrome: two case reports

    Directory of Open Access Journals (Sweden)

    Novelli Antonio

    2009-11-01

    Full Text Available Abstract Background Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH consists of congenital aplasia of the uterus and the upper part of vagina due to anomalous development of Müllerian ducts, either isolated or associated with other congenital malformations, including renal, skeletal, hearing and heart defects. This disorder has an incidence of approximately 1 in 4500 newborn girls and the aetiology is poorly understood. Methods and Results we report on two patients affected by MRKH syndrome in which array-CGH analysis disclosed an identical deletion spanning 1.5 Mb of genomic DNA at chromosome 17q12. One patient was affected by complete absence of uterus and vagina, with bilaterally normal ovaries, while the other displayed agenesis of the upper part of vagina, right unicornuate uterus, non cavitating rudimentary left horn and bilaterally multicystic kidneys. The deletion encompassed two candidate genes, TCF2 and LHX1. Mutational screening of these genes in a selected group of 20 MRKH females without 17q12 deletion was negative. Conclusion Deletion 17q12 is a rare albeit recurrent anomaly mediated by segmental duplications, previously reported in subjects with developmental kidney abnormalities and diabetes. The present two patients expand the clinical spectrum associated with this imbalance and suggest that this region is a candidate locus for a subset of MRKH syndrome individuals, with or without renal defects.

  15. Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA Syndrome.

    Science.gov (United States)

    Linnankivi, Tarja; Neupane, Nirajan; Richter, Uwe; Isohanni, Pirjo; Tyynismaa, Henna

    2016-09-01

    Mitochondrial aminoacyl-tRNA synthetases are an important group of disease genes typically underlying either a disorder affecting an isolated tissue or a distinct syndrome. Missense mutations in the mitochondrial seryl-tRNA synthetase gene, SARS2, have been identified in HUPRA syndrome (hyperuricemia, pulmonary hypertension, renal failure in infancy, and alkalosis). We report here a homozygous splicing mutation in SARS2 in a patient with progressive spastic paresis. We show that the mutation leads to diminished levels of the synthetase in patient's fibroblasts. This has a destabilizing effect on the tRNASer(AGY) isoacceptor, but to a lesser degree than in HUPRA syndrome patients. tRNASer(UCN) is largely unaffected in both phenotypes. In conclusion, the level of tRNASer(AGY) instability may be a factor in determining tissue manifestation in patients with SARS2 mutations. This finding exemplifies the sensitivity of the nervous system to partially reduced aminoacylation, which is sufficient in other tissues to maintain respiratory chain function. PMID:27279129

  16. SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression.

    Science.gov (United States)

    Szczałuba, Krzysztof; Brzezinska, Monika; Kot, Justyna; Rydzanicz, Małgorzata; Walczak, Anna; Stawiński, Piotr; Werner, Bożena; Płoski, Rafał

    2016-09-01

    Loss-of-function de novo mutations in the SETD5 gene, encoding a putative methyltransferase, are an important cause of moderate/severe intellectual disability as evidenced by the results of sequencing large patient cohorts. We present the first familial case of a SETD5 mutation contributing to a phenotype of congenital heart defects and dysmorphic features, with variable expression, in two siblings and their father. Interestingly, the father demonstrated only mild intellectual impairment. Family based exome sequencing combined to careful parental phenotyping may reveal a more complex clinical picture in newly recognized syndromes. © 2016 Wiley Periodicals, Inc. PMID:27375234

  17. SYNDROME OF INADEQUATE SECRETION OF ANTIDIURETIC HORMONE ASSOCIATED TO PULMONARY THROMBOEMBOLISM: A NON-DESCRIBED CAUSE OF HYPONATREMIA IN THE LITERATURE.

    Directory of Open Access Journals (Sweden)

    Carlos G. Musso

    2008-01-01

    Full Text Available Syndrome of inadequate secretion of antidiuretic hormone (SIADH is a condition that can be associated to various sort of lung diseases.In this report we present a clinical case where a SIADH associated to pulmonary thromboembolism was documented. As long as we know, this association has not been described yet in the literature, and we hypothesized that lung cytokines released due to pulmonary necrosis could be the main stimulus to vasopressin secretion in this entity.Conclusion: Pulmonary thromboembolism should be incorporated in the list of lung causes of SIADH.

  18. Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I)

    Energy Technology Data Exchange (ETDEWEB)

    Hoth, C.F.; Milunsky, A.; Lipsky, N.; Baldwin, C.T. (Boston Univ. School of Medicine, MA (United States)); Sheffer, R. (Hadassah-Hebrew Univ. Medical Center, Jerusalem (Israel)); Clarren, S.K. (Univ. of Washington School of Medicine, Seattle (United States))

    1993-03-01

    Waardenburg syndrome type I (WS-I) is an autosomal dominant disorder characterized by sensorineural hearing loss, dystopia canthorum, pigmentary disturbances, and other developmental defects. Klein-Waardenburg syndrome (WS-III) is a disorder with many of the same characteristics as WS-I and includes musculoskeletal abnormalities. The authors have recently reported the identification and characterization of one of the first gene defects, in the human PAX3 gene, which causes WS-I. PAX3 is a DNA-binding protein that contains a structural motif known as the paired domain and is believed to regulate the expression of other genes. In this report they describe two new mutations, in the human PAX3 gene, that are associated with WS. One mutation was found in a family with WS-I, while the other mutation was found in a family with WS-III. Both mutations were in the highly conserved paired domain of the human PAX3 gene and are similar to other mutations that cause WS. The results indicate that mutations in the PAX3 gene can cause both WS-I and WS-III. 36 refs., 4 figs.

  19. Sick sinus syndrome

    Science.gov (United States)

    ... chambers is a common cause of sick sinus syndrome. Coronary artery disease , high blood pressure, and aortic and ... pressure may be normal or low. Sick sinus syndrome may cause symptoms of heart failure to start or get worse. Sick sinus ...

  20. DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

    Science.gov (United States)

    Ji, Jianling; Lee, Hane; Argiropoulos, Bob; Dorrani, Naghmeh; Mann, John; Martinez-Agosto, Julian A; Gomez-Ospina, Natalia; Gallant, Natalie; Bernstein, Jonathan A; Hudgins, Louanne; Slattery, Leah; Isidor, Bertrand; Le Caignec, Cédric; David, Albert; Obersztyn, Ewa; Wiśniowiecka-Kowalnik, Barbara; Fox, Michelle; Deignan, Joshua L; Vilain, Eric; Hendricks, Emily; Horton Harr, Margaret; Noon, Sarah E; Jackson, Jessi R; Wilkens, Alisha; Mirzaa, Ghayda; Salamon, Noriko; Abramson, Jeff; Zackai, Elaine H; Krantz, Ian; Innes, A Micheil; Nelson, Stanley F; Grody, Wayne W; Quintero-Rivera, Fabiola

    2015-11-01

    Dual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1 A (DYRK1A ) is a highly conserved gene located in the Down syndrome critical region. It has an important role in early development and regulation of neuronal proliferation. Microdeletions of chromosome 21q22.12q22.3 that include DYRK1A (21q22.13) are rare and only a few pathogenic single-nucleotide variants (SNVs) in the DYRK1A gene have been described, so as of yet, the landscape of DYRK1A disruptions and their associated phenotype has not been fully explored. We have identified 14 individuals with de novo heterozygous variants of DYRK1A; five with microdeletions, three with small insertions or deletions (INDELs) and six with deleterious SNVs. The analysis of our cohort and comparison with published cases reveals that phenotypes are consistent among individuals with the 21q22.12q22.3 microdeletion and those with translocation, SNVs, or INDELs within DYRK1A. All individuals shared congenital microcephaly at birth, intellectual disability, developmental delay, severe speech impairment, short stature, and distinct facial features. The severity of the microcephaly varied from -2 SD to -5 SD. Seizures, structural brain abnormalities, eye defects, ataxia/broad-based gait, intrauterine growth restriction, minor skeletal abnormalities, and feeding difficulties were present in two-thirds of all affected individuals. Our study demonstrates that haploinsufficiency of DYRK1A results in a new recognizable syndrome, which should be considered in individuals with Angelman syndrome-like features and distinct facial features. Our report represents the largest cohort of individuals with DYRK1A disruptions to date, and is the first attempt to define consistent genotype-phenotype correlations among subjects with 21q22.13 microdeletions and DYRK1A SNVs or small INDELs. PMID:25944381