Výsledky vyhledávání

Decreased Adrenomedullary Function in Infants With Classical Congenital Adrenal Hyperplasia

Autor: Christianne J. Lane, Mitchell E. Geffner, Sandra Hall, Ashley H. Park, Bhavna Bali, Mimi S. Kim, Anna Ryabets-Lienhard

Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 99:E1597-E1601

Classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency can cause life-threatening adrenal crises as well as severe hypoglycemia, especially in very young children. Studies of CAH patients 4 years old or older have found abnor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df56ba42993817fdcbd46c0c1c51b1e1
https://doi.org/10.1210/jc.2014-1274

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Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4)

Autor: David A. Greenberg, Zeynep Baskurt, Patricia McGoldrick, Theodore Chiang, Huntley Hardison, Bhavna Bali, Tara Clarke, Ruslan Dorfman, Steven M Wolf, Weili Li, Steven L. Kugler, Deb K. Pal, Edward J. Novotny, Elaine C. Wirrell, James J. Russo, Minchen Chien, Lisa J. Strug, Jingyue Ju, David E. Mandelbaum

Publikováno v: European Journal of Human Genetics. 17:1171-1181

Rolandic epilepsy (RE) is the most common human epilepsy, affecting children between 3 and 12 years of age, boys more often than girls (3:2). Focal sharp waves in the centrotemporal area define the electroencephalographic (EEG) trait for the syndrome

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::647f656328ac93afdb35f415151a62d9
https://doi.org/10.1038/ejhg.2008.267

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An autosomal dominant genetically heterogeneous variant of rolandic epilepsy and speech disorder

Autor: Bhavna Bali, Lisa J. Strug, P. L. Murphy, Deb K. Pal, Steven L. Kugler, David A. Greenberg, Bernadine R. Gagnon, Tara Clarke, Philip Lieberman

Publikováno v: Epilepsia. 49:1086-1090

We report a three generation pedigree with 11 of 22 affected with a variant form of rolandic epilepsy, speech impairment, oromotor apraxia, and cognitive deficit. The core features comprised nocturnal rolandic seizures, interictal centrotemporal spik

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4641a43074c5177bae2aaff1cef80aa2
https://doi.org/10.1111/j.1528-1167.2007.01517.x

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Scleroderma-like skin changes not involving the hand in a prepubertal male with type I diabetes mellitus

Autor: Andreas Reiff, Bhavna Bali, Sinjira Somanunt, Pisit Pitukcheewanont

Publikováno v: Dermato-Endocrinology. 3:230-232

To our knowledge there have been no reports of scleroderma-like skin changes, not affecting the hand in prepubertal patients with Type I Diabetes Mellitus (T1DM). We report a prepubertal caucasian male with T1DM, and early morphea-type skin changes o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bfedcb1809c4a98a2ef97287554ebd9
https://doi.org/10.4161/derm.3.4.14614

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Evaluation of Adrenocortical and Adrenomedullary Function in Subjects with Non-Classical Adrenal Hyperplasia (NCAH), Classical Adrenal Hyperplasia (CAH), and Heterozygotes Secondary to 21-Hydroxylase Deficiency (21OHD)

Autor: Bhavna Bali, Colleen Azen, Raynald Samoa, Joshua May, Maria Karantza, Mitchell Geffner

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1a0e52335e5f0d7e3005213ba221bc3f
https://doi.org/10.1210/endo-meetings.2011.part4.p7.p3-572

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Autosomal dominant inheritance of centrotemporal sharp waves in rolandic epilepsy families

Autor: Bhavna Bali, David A. Greenberg, Tara Clarke, Lisa J. Strug, P. L. Murphy, Lewis L. Kull, Deb K. Pal, Cigdem I. Akman

Publikováno v: Epilepsia. 48(12)

SUMMARY Purpose: Centrotemporal sharp (CTS) waves, the electroencephalogram (EEG) hallmark of rolandic epilepsy, are found in approximately 4% of the childhood population. The inheritance of CTS is presumed autosomal dominant but this is controversia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::538deace7b7db267bd5758ec028f0fd1
https://pubmed.ncbi.nlm.nih.gov/17662063

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Is Rolandic Epilepsy Associated With Abnormal Findings On Cranial MRI?

Autor: Jerrold L. Boxerman, Karameh Hawash, Deb K. Pal, Jeffrey M. Rogg, Tara Clarke, Bhavna Bali

Summary Rolandic epilepsy (RE) is designated an idiopathic epilepsy syndrome, and hence no lesional abnormalities are expected on MRI exam. Recent reports suggest that MRI abnormalities are not only common, but may be specific for temporal lobe epile

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbd2e1c6224cf595f997db6e24396e65
https://europepmc.org/articles/PMC2001310/

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