Hypoparathyroidism as the first manifestation of Kearns-sayre syndrome. A case report

Hypoparathyroidism as the First Manifestation of Kearns-Sayre Syndrome: A Case Report How to Cite This Article: Ashrafzadeh F, Ghaemi N, Akhondian J, Beiraghi Toosi M, Elmi S. Hypoparathyroidism as the First Manifestation of Kearns-Sayre Syndrome: A Case Report. Iran J Child Neurol. 2013 Autumn;7(4):53-57.  ObjectiveKearns-Sayre syndrome is a mitochondrial myopathy, which was first described by Tomas Kearn in 1958. Diagnostic symptoms include retinitis pigmentosa, chronic and progressive external ophthalmoplegia plus one or more of following factors: heart conduction system disorders, cerebellar ataxia, or cerebrospinal fluid (CSF) protein content above 100 mg/dL. The nature of this uncommon disease is yet to be clarified. In this paper, we report a case of Kearns-Sayre syndrome. According to the previous records, the first manifestation of Kearns-Sayre syndrome as hypoparathyroidism is uncommon and in this article, we report a case with this problem.ReferencesAshizawa T, Subramony SH. What is Kearns-Sayer syndrome after all? Arch Neurol 2001;58(7):1053-4.Barragan-Campos HM, Vallee JN, Lo D, Barrera-Ramirez CF, Argote-Greene M, Sanchez-Guerrero J, et al. Brain magnetic resonance imaging findings in patients with mitochondrial cytopathies. Arch Neurol 2005;62(5):737-42.Amemiya S, Hamamoto M, Goto Y, Komaki H, Nishino I, Nonaka I, et al. Psychosis and progressive dementia: presenting features of a mitochondriopathy. Neurology 2000;55(4):600-1.Katsanos KH, Pappas CJ, Patsouras D, Michalis LK, Kitsios G, Elisaf M, et al. Alarming atrioventricular block and mitral valve prolapse in the Kearns-Sayer syndrome. Int J Cardiol 2002;83(2):179-81.Tiranti V, Viscomi C, Hildebrandt T, Di Meo I, Mineri R, Tiveron C, et al. Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. Nat Med 2009;15(2):200–5.Chinnery PF, DiMauro S, Shanske S, Schon EA, Zeviani M, Mariotti C, et al. Risk of developing a mitochondrial DNA deletion disorder. Lancet 2004;364(9434):592–6.Bosbach S, Kornblum C, Schröder R, Wagner M. Executive and visuospatial deficits in patients with chronic progressive external ophthalmoplegia and Kearns-Sayer syndrome. Brain 2003;126(Pt 5):1231-40.Berenberg RA, Pellock JM, DiMauro S, Schotland DL, Bonilla E, Eastwood A, et al. Lumping or splitting? “Ophthalmoplegia-plus” or Kearns-Sayer syndrome? Ann Neurol 1977;1(1):37-54.Welzing L, von Kleist-Retzow JC, Kribs A, Eifinger F, Huenseler C, Sreeram N. Rapid development of life threatening complete atrioventricular block in Kearns-Sayer syndrome. Eur J Pediatr 2009;168(6):757-9.Berio A, Piazzi A. Kearns-Sayer syndrome with GH deficiency. Pediatr Med Chir 2000;22:43-6.Schmiedel J, Jackson S, Schäfer J, Reichmann H. Mitochondrial cytopathies. J Neurol 2003;250(3):267-77.Chu BC, Terae S, Takahashi C, Kikuchi Y, Miyasaka K, Abe S, et al. MRI of the brain in the Kearns-Sayer syndrome: report of four cases and a review. Neuroradiology 1999;41(10):759-64.Altunbaşak S, Bingöl G, Ozbarlas N, Akçören Z, Hergüner O. Kearns-Sayer syndrome. A case report. Turk J Pediatr 1998;40(2):255-9.Chawla S, Coku J, Forbes T, Kannan S. Kearns-Sayer syndrome presenting as complete heart block. Pediatr Cardiol 2008;29(3):659-62.Gregoratos G, Abrams J, Epstein AE, Freedman RA, Hayes DL, Hlatky MA, et al. ACC/AHA/NASPE 2002 guideline update for implantation of cardiac pacemakers and antiarrhythmia devices: summary article: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (ACC/ AHA/NASPE Committee to Update the 1998 Pacemaker Guidelines). Circulation 2002;106(16):2145-61.Basu AP, Posner E, McFarland R, Turnbull DM. Kearnsayre syndrome. Medscape reference. Feb 4, 2010.http://emedicine.medscape.com/article/950897

The Jealous Husband (1967 program)

Performed in the spring of 1967. Cast:Barbouille: John WilsonScholar: Mike WiseAngelique: Mary Ann PedenCathau: Sheron CooperGorgibus: Parker GuanVellebrequin: Joe LunafordLa Vallee: Phil Rengenhttps://scholarworks.harding.edu/theatre-history/1028/thumbnail.jp

Running of the QED coupling in small-angle Bhabha scattering at LEP

Using the OPAL detector at LEP, the running of the effective QED coupling alpha(t) is measured for space-like momentum transfer, 2 \leq -t \leq 6 GeV^2, from the angular distribution of small-angle Bhabha scattering. This is currently the most significant direct observation of the running of the QED coupling in a single experiment and the first clear evidence of the hadronic contribution to the running in the space-like region. Our result is in good agreement with standard evaluations of alpha(t), based on data in the time-like region.Comment: Talks given at the 19th Rencontres De Physique De La Vallee D'Aoste (27.2-5.3.05), La Thuile, Italy and at the 40th Rencontres De Moriond On Electroweak Interactions And Unified Theories (5.3-12.3.05), La Thuile, Italy. Added 1 figure and related text wrt vers.

A zinc transporter gene required for development of the nervous system.

The essentiality of zinc for normal brain development is well established. It has been suggested that primary and secondary zinc deficiencies can contribute to the occurrence of numerous human birth defects, including many involving the central nervous system. In a recent study, we searched for zinc transporter genes that were critical for neurodevelopment. We confirmed that ZIP12 is a zinc transporter encoded by the gene slc39a12 that is highly expressed in the central nervous systems of human, mouse, and frog (Xenopus tropicalis).Using loss-of-function methods, we determined that ZIP12 is required for neuronal differentiation and neurite outgrowth and necessary for neurulation and embryonic viability. These results highlight an essential need for zinc regulation during embryogenesis and nervous system development. We suggest that slc39a12 is a candidate gene for inherited neurodevelopmental defects in humans

The role of securitization in mortgage lending

Recent media coverage on the problems in the subprime mortgage market has featured an alphabet soup of abbreviations, such as MBS, CDO, and SIV. What do these terms stand for? And how do they fit into the mortgage financing process?Mortgage loans ; Mortgage-backed securities

Approximation of periodic function by Fejer sum and de la Vallee Poussin sum

In this paper there are several results, we prove approximation of periodic function by Fejer means and De La Vallee Poussin means in Lebesgue spaces the estimates are given in terms of function for and in terms of second continuity modulus.Comment: 9 page