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Journal articles on the topic 'Berardinelli-Seip'

Author: Grafiati

Published: 4 June 2021

Last updated: 6 February 2022

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1

Prasad, Col AN. "Berardinelli Seip Syndrome." Medical Journal Armed Forces India 62, no. 1 (2006): 83–84. http://dx.doi.org/10.1016/s0377-1237(06)80170-x.

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2

Das, G. P., and Lakshmi Mehta. "Seip-Berardinelli syndrome." Indian Journal of Pediatrics 58, no. 5 (1991): 695. http://dx.doi.org/10.1007/bf02820194.

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3

Das, G. P., and Lakshmi Mehta. "Seip-berardinelli syndrome." Indian Journal of Pediatrics 58, no. 4 (1991): 551–53. http://dx.doi.org/10.1007/bf02750941.

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4

Kobashi, Yuko, Amy Schoenbaum, Robert P. Hasserjian, and Daniel I. Rosenthal. "Berardinelli-Seip lipodystrophy." Skeletal Radiology 36, no. 10 (2007): 999–1003. http://dx.doi.org/10.1007/s00256-007-0332-4.

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5

Arshad Cheema, Huma, Hassan Suleman Malik, Nadia Waheed, Iqra Mushtaq, Zafar Fayyaz, and Mohammad Nadeem Anjum. "Berardinelli-seip Congenital Generalised Lipodystrophy." Journal of the College of Physicians and Surgeons Pakistan 28, no. 5 (2018): 406–8. http://dx.doi.org/10.29271/jcpsp.2018.05.406.

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6

Bande-Fernández, José Joaquín, Raúl García-Castro, José Emilio Sánchez-Alvarez, et al. "Berardinelli-Seip syndrome in peritoneal dialysis." Nefrología (English Edition) 35, no. 5 (2015): 493–96. http://dx.doi.org/10.1016/j.nefroe.2015.11.005.

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7

Kazandjieva, Jana, Dimitrina Guleva, Sonya Márina, Assya Nikolova, Gergana Mladenova, and Alexander Kurtev. "Berardinelli-Seip Syndrome - A Case Report." Serbian Journal of Dermatology and Venereology 8, no. 2 (2016): 101–4. http://dx.doi.org/10.1515/sjdv-2016-0010.

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Abstract Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome (BSS), is a rare autosomal recessive disease characterized by near total absence of adipose tissue and muscular hypertrophy. Additional common clinical signs are acanthosis nigricans, acromegaloid features, hepatomegaly, hyperandrogenism, altered glucose intolerance, cardiomyopathy and hypertriglyceridemia. An 11-year-old girl was admitted to our Clinic presenting with hyperandrogenic features, generalized lack of adipose tissue, generalized muscular hypertrophy and brownish colored skin on the neck,

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8

Machado, Pedro Vale, Egon Luiz Rodrigues Daxbacher, Daniel Lago Obadia, Edna Ferreira da Cunha, Maria de Fátima Guimarães Scotelaro Alves, and Danielle Mann. "Do you know this syndrome?" Anais Brasileiros de Dermatologia 88, no. 6 (2013): 1011–13. http://dx.doi.org/10.1590/abd1806-4841.20132178.

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Berardinelli-Seip syndrome is a rare autosomal recessive disease characterized by inadequate metabolism and inefficient storing of lipids in fat cells, generating accumulation of fat in organs such as the liver, spleen, pancreas, heart, arterial endothelium and skin. Classically, patients manifest generalized lipoatrophy at birth or until 2 years of age, and in adolescence usually develop marked insulin resistance with rapid progression to diabetes and dyslipidemia. We report the case of a 17-year-old Berardinelli-Seip syndrome patient with eruptive xanthoma associated with severe hypertriglyc

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9

Servin, Roxana, Amanda Benítez, María Elena Ferreiro, Manuel Avalos, and Maria Itatí Cáceres Cammarata. "Enfermedades raras: síndrome de Berardinelli-Seip presentación de un caso." Revista de la Facultad de Medicina 35, no. 3 (2015): 64. http://dx.doi.org/10.30972/med.3534698.

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El síndrome de Berardinelli - Seip es una lipodistrofia generalizada congénita con niveles elevados de hormona del crecimiento y de lípidos séricos. Se trata de un trastorno autosómico recesivo extremadamente raro, con una prevalencia estimada de menos de un caso por cada 1.000.000 personas. Fue descrita inicialmente por Berardinelli en 1954. En 1963 Seip y Trygstad descubren la seipina, cuya mutación produce el síndrome. No se conoce la etiología, pero se sabe que es ocasionada en parte por la incapacidad de ciertos adipocitos para mantener la acumulación de grasa. Los factores asociados con

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10

Chennamsetty, Kavya, and T. Rao. "Berardinelli-Seip congenital lipodystrophy in two siblings." Indian Dermatology Online Journal 5, no. 5 (2014): 20. http://dx.doi.org/10.4103/2229-5178.144511.

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11

Nayak, Snehamayee. "BERARDINELLI - SEIP CONGENITAL LIPODYSTROPHY - AN INFANTILE PRESENTATION." Indian Journal of Case Reports 1, no. 1 (2015): 18–20. http://dx.doi.org/10.32677/ijcr.2015.v01.i01.006.

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12

Bande-Fernández, José Joaquín, Raúl García-Castro, José Emilio Sánchez-Alvarez, et al. "Síndrome de Berardinelli-Seip en diálisis peritoneal." Nefrología 35, no. 5 (2015): 493–96. http://dx.doi.org/10.1016/j.nefro.2015.08.002.

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13

Imane, Z., S. Amhager, N. Bennani, A. Touzani, and A. Balafrej. "P147 - Le diabète lipoatrophique de Berardinelli-Seip." Diabetes & Metabolism 37, no. 1 (2011): A69. http://dx.doi.org/10.1016/s1262-3636(11)70773-x.

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14

Ferraria, N., C. Pedrosa, D. Amaral, and L. Lopes. "Berardinelli-Seip syndrome: highlight of treatment challenge." Case Reports 2013, jan28 1 (2013): bcr2012007734. http://dx.doi.org/10.1136/bcr-2012-007734.

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15

Cândido Dantas, Verônica Kristina, Joice da Silva Soares, Lázaro Batista de Azevedo Medeiros, et al. "Nurses' knowledge about Berardinelli-Seip Congenital Lipodystrophy." PLOS ONE 13, no. 6 (2018): e0197784. http://dx.doi.org/10.1371/journal.pone.0197784.

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16

Araujo, M., and L. Papendiek. "Berardinelli Seip Syndrome. Analysis of clinical cases." Atherosclerosis 241, no. 1 (2015): e117-e118. http://dx.doi.org/10.1016/j.atherosclerosis.2015.04.409.

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17

van der Pol, Rachel J., Marc A. Benninga, Jocelyne Magré, et al. "Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?" European Journal of Pediatrics 174, no. 7 (2015): 975–80. http://dx.doi.org/10.1007/s00431-015-2556-y.

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Abstract Berardinelli-Seip congenital lipodystrophy (BSCL) is an uncommon autosomal recessive disorder. Patients with BSCL present with a distinct phenotype since subcutaneous fat is largely lacking and musculature has become more prominent. During childhood, diabetes and acanthosis nigricans evolve and female patients may develop hirsutism. Different genes encoding this entity have been described. Achalasia is a rare esophageal motility disorder, characterized by its distinct motility pattern with absent or incomplete lower esophageal sphincter (LES) relaxations. The exact cause of achalasia

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18

Beijer, P., R. J. Odink, Th A. M. Hurk, and M. A. M. J. Vroede. "Een zuigeling zonder subcutaan vet: berardinelli-seip-syndroom." Tijdschrift voor kindergeneeskunde 78, no. 1 (2011): 30–33. http://dx.doi.org/10.1007/bf03555558.

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19

Van Maldergem, L. "Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy." Journal of Medical Genetics 39, no. 10 (2002): 722–33. http://dx.doi.org/10.1136/jmg.39.10.722.

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20

Eltermann, T., C. Menendez-Castro, H. P. Kienzle, R. Wößner, and W. Thomas. "Early Course of Berardinelli-Seip Congenital Lipodystrophy (BSCL)." Klinische Pädiatrie 222, no. 05 (2010): 308–9. http://dx.doi.org/10.1055/s-0030-1248282.

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21

Araújo-Vilar, D. "Lipodistrofia congénita generalizada versus síndrome de Berardinelli-Seip." Anales de Pediatría 74, no. 6 (2011): 423–24. http://dx.doi.org/10.1016/j.anpedi.2010.12.015.

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22

Beijer, P., Th A. M. van den Hurk, M. A. M. J. de Vroede, and R. J. Odink. "Een zuigeling zonder subcutaan vet: berardinelli-seip-syndroom." Tijdschrift voor Kindergeneeskunde 78, no. 1 (2010): 33–36. http://dx.doi.org/10.1007/s12456-010-0009-0.

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23

Shawky, Rabah M., Radwa Gamal, and Neveen S. Seifeldin. "Berardinelli–Seip syndrome type 2 – An Egyptian child." Egyptian Journal of Medical Human Genetics 16, no. 2 (2015): 189–93. http://dx.doi.org/10.1016/j.ejmhg.2014.08.004.

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24

Datta, Sucharita. "A Rare case in Indians -- Berardinelli–Seip Congenital Lipodystrophy." IOSR Journal of Dental and Medical Sciences 4, no. 1 (2013): 64–68. http://dx.doi.org/10.9790/0853-0416468.

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25

Alzu’bi, Ali A., Khaldon K. Al-Sarihin,, Suzan Eteiwi, et al. "Berardinelli-Seip Syndrome and Essential Thrombocytosis: An Unusual Association." Oman Medical Journal 35, no. 3 (2020): e135-e135. http://dx.doi.org/10.5001/omj.2020.53.

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26

-Ain, Qurat-ul, Waqas Sheikh, and Noreen Shahzad. "A Child with Lipemic Sample: Berardinelli-Seip Congenital Lipodystrophy." Journal of the College of Physicians and Surgeons Pakistan 30, no. 02 (2020): 225. http://dx.doi.org/10.29271/jcpsp.2020.02.225.

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27

Babu, Priya, Rakesh Sharma, Elizabeth Jayaseelan, and Divya Appachu. "Berardinelli-Seip syndrome in a 6-year-old boy." Indian Journal of Dermatology, Venereology and Leprology 74, no. 6 (2008): 644. http://dx.doi.org/10.4103/0378-6323.45112.

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28

Metwalley, KotbAbbass, and HekmaSaad Farghaly. "Berardinelli-Seip syndrome type 1 in an Egyptian child." Indian Journal of Human Genetics 20, no. 1 (2014): 75. http://dx.doi.org/10.4103/0971-6866.132762.

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29

Craveiro Sarmento, Aquiles Sales, Leonardo Capistrano Ferreira, Josivan Gomes Lima, et al. "The worldwide mutational landscape of Berardinelli-Seip congenital lipodystrophy." Mutation Research/Reviews in Mutation Research 781 (July 2019): 30–52. http://dx.doi.org/10.1016/j.mrrev.2019.03.005.

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30

Ferranti, Silvia, Caterina Lo Rizzo, Alessandra Renieri, Paolo Galluzzi, and Salvatore Grosso. "Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome." Neurological Sciences 41, no. 11 (2020): 3345–48. http://dx.doi.org/10.1007/s10072-020-04418-1.

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31

Joshi, Rajesh, and Shreya Sharma. "Berardinelli Seip Congenital Lipodystrophy Syndrome: 10 Year Follow-up." Indian Pediatrics 56, no. 10 (2019): 877–78. http://dx.doi.org/10.1007/s13312-019-1617-0.

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32

Bhujel, N., and H. Clark. "Case report: Dental management of Berardinelli-Seip congenital lipodystrophy." European Archives of Paediatric Dentistry 17, no. 2 (2015): 137–40. http://dx.doi.org/10.1007/s40368-015-0210-z.

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33

Sousa, Júnia Bicalho de, Sílvia Pimenta de Carvalho, Luciana Baptista Pereira, and Everton Siviero do Vale. "Você conhece esta síndrome?" Anais Brasileiros de Dermatologia 81, no. 1 (2006): 87–90. http://dx.doi.org/10.1590/s0365-05962006000100012.

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A lipodistrofia generalizada congênita (síndrome de Berardinelli-Seip), doença autossômica recessiva, caracteriza-se por escassez do tecido subcutâneo. A falta de tecido adiposo propicia disfunção metabólica dos lípides e carboidratos, resistência periférica à insulina, hipertrigliceridemia e hipermetabolismo. Outros achados são acantose nigricante, acromegalia, hepatomegalia e alterações musculares, ósseas, cardiovasculares e neurológicas. Relata-se o caso de paciente com essa síndrome, cujo diagnóstico foi realizado em um serviço de dermatologia.

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34

Wimalaratna, H., and ASD Nandasiri. "A case of Berardinelli-Seip syndrome presenting clinical with cirrhosis." Journal of the Royal College of Physicians of Edinburgh 43, no. 4 (2013): 309–11. http://dx.doi.org/10.4997/jrcpe.2013.406.

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35

van der Pol, Rachel J., Marc A. Benninga, Jocelyne Magré, et al. "Correction to: Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?" European Journal of Pediatrics 179, no. 10 (2020): 1653–54. http://dx.doi.org/10.1007/s00431-020-03743-z.

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36

Auer-Grumbach, Michaela, Beate Schlotter-Weigel, Hanns Lochmüller, et al. "Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation." Annals of Neurology 57, no. 3 (2005): 415–24. http://dx.doi.org/10.1002/ana.20410.

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37

Magré, Jocelyne. "Enfin un gène pour la lipodystrophie congénitale de Berardinelli-Seip." médecine/sciences 17, no. 11 (2001): 1208–9. http://dx.doi.org/10.1051/medsci/200117111208.

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38

Gomes, Karina Braga, Victor Cavalcanti Pardini, and Ana Paula Fernandes. "Clinical and molecular aspects of Berardinelli–Seip Congenital Lipodystrophy (BSCL)." Clinica Chimica Acta 402, no. 1-2 (2009): 1–6. http://dx.doi.org/10.1016/j.cca.2008.12.032.

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39

Khandpur, Sujay, Amrendra Kumar, and Rajesh Khadgawat. "Congenital generalized lipodystrophy of Berardinelli-Seip type: A rare case." Indian Journal of Dermatology, Venereology, and Leprology 77, no. 3 (2011): 402. http://dx.doi.org/10.4103/0378-6323.79740.

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40

Soliman, Ashraf T., Ahmed A. El-Nawawy, Omar O. El-Azzoni, Said A. Amer, and Anna Rajab. "Seip-Berardinelli Lipodystrophy: Report of Three Cases and their Endocrine Functions." Annals of Saudi Medicine 15, no. 5 (1995): 501–5. http://dx.doi.org/10.5144/0256-4947.1995.501.

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41

Barra, Cristiane B., Roberta D. Savoldelli, Thais D. Manna, et al. "Síndrome de Berardinelli-Seip: descrição genética e metabólica de cinco pacientes." Arquivos Brasileiros de Endocrinologia & Metabologia 55, no. 1 (2011): 54–59. http://dx.doi.org/10.1590/s0004-27302011000100007.

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OBJETIVO: Descrever o perfil genético e metabólico de portadores da síndrome de Berardinelli-Seip (BSCL) acompanhados no Instituto da Criança do HC-FMUSP. SUJEITOS E MÉTODOS: Pacientes com as características clínicas da BSCL (n = 5), todas do sexo feminino, foram avaliadas com dosagens de glicose e insulina, lípides, leptina, enzimas hepáticas, análise de DNA, ultrassonografia abdominal. RESULTADOS: A deficiência de leptina e a hipertrigliceridemia foram constatadas nas cinco pacientes. Três evoluíram para diabetes melito (DM). Quatro tiveram mutação no gene AGPAT2 e uma no gene CAV1. CONCLUSÃ

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42

Solanki, Mishthu, Sandyadevi S. Patil, Devinder Kaur Baweja, Hina Noorani, and Shivaprakash PK. "Talon cusps, macrodontia, and aberrant tooth morphology in Berardinelli-Seip syndrome." Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology 105, no. 1 (2008): e41-e47. http://dx.doi.org/10.1016/j.tripleo.2007.07.022.

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43

Santos, Maria Goretti do Nascimento, Maria de Fátima Paiva Baracho, Sancha Helena de Lima Vale, et al. "Kinetics of zinc status and zinc deficiency in Berardinelli-Seip syndrome." Journal of Trace Elements in Medicine and Biology 26, no. 1 (2012): 7–12. http://dx.doi.org/10.1016/j.jtemb.2011.11.002.

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44

Benthien, J. P., T. Trommer, R. Fuhrmann, and R. Venbrocks. "Skeletal manifestations of acquired generalized diabetic lipodystrophy: Seip-Berardinelli-Lawrence syndrome." Foot and Ankle Surgery 4, no. 3 (1998): 171–76. http://dx.doi.org/10.1046/j.1460-9584.1998.00108.x.

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45

Islek, Ali, Ersin Sayar, Aygen Yilmaz, Ozgur Duman, and Reha Artan. "A very rare cause of acute pancreatitis: Berardinelli-Seip congenital lipodystrophy." Turkish Journal of Gastroenterology 25, no. 1 (2015): 216–19. http://dx.doi.org/10.5152/tjg.2014.3667.

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46

Ghanem, Q. "Percussion myoedema in a Pakistani boy with Berardinelli Seip lipodystrophy syndrome." Clinical Genetics 44, no. 5 (2008): 277–78. http://dx.doi.org/10.1111/j.1399-0004.1993.tb03899.x.

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47

Lima, Josivan Gomes, Lucia Helena C. Nobrega, Natalia Nobrega Lima, et al. "Causes of death in patients with Berardinelli-Seip congenital generalized lipodystrophy." PLOS ONE 13, no. 6 (2018): e0199052. http://dx.doi.org/10.1371/journal.pone.0199052.

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48

Faria, Carlos A., Ruy S. Moraes, Dário C. Sobral-Filho, et al. "Autonomic modulation in patients with congenital generalized lipodystrophy (Berardinelli-Seip syndrome)." EP Europace 11, no. 6 (2009): 763–69. http://dx.doi.org/10.1093/europace/eup095.

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49

Senanayake, MP, and I. Karunaratne. "Two unusual features in a child with Berardinelli-Seip congenital generalised lipodystrophy." Ceylon Medical Journal 59, no. 3 (2014): 103. http://dx.doi.org/10.4038/cmj.v59i3.7480.

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50

Kim, C. A., M. Delépine, E. Boutet, et al. "O18 L’absence de cavéoline-1 induit la lipodystrophie congénitale de Berardinelli-Seip." Diabetes & Metabolism 34 (March 2008): H14. http://dx.doi.org/10.1016/s1262-3636(08)72828-3.

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