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2014 4
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Page 1
OCT2 expression in histiocytoses.
Ungureanu IA, Cohen-Aubart F, Héritier S, Fraitag S, Charlotte F, Lequain H, Hélias-Rodzewicz Z, Haroche J, Donadieu J, Emile JF. Ungureanu IA, et al. Virchows Arch. 2023 Jul;483(1):81-86. doi: 10.1007/s00428-023-03508-7. Epub 2023 Feb 9. Virchows Arch. 2023. PMID: 36754897
Our purpose was to expand the testing of OCT2 on a broader variety of sporadic or H syndrome-related histiocytoses. Cases of histiocytoses were retrieved from the files of Ambroise Pare Pathology Department. ...It is negative in 92% of ECD but expressed in at least …
Our purpose was to expand the testing of OCT2 on a broader variety of sporadic or H syndrome-related histiocytoses. Cases of h …
H syndrome: A review of treatment options and a hypothesis of phenotypic variability.
Nofal H, AlAkad R, Nofal A, Rabie E, Chaikul T, Chiu FP, Pramanik R, Alabdulkareem A, Onoufriadis A. Nofal H, et al. Dermatol Ther. 2021 Sep;34(5):e15082. doi: 10.1111/dth.15082. Epub 2021 Aug 16. Dermatol Ther. 2021. PMID: 34351669 Review.
H syndrome is a rare autosomal recessive disorder with clinical features comprising: hyperpigmentation, hypertrichosis, hearing loss, heart anomalies, low height, hypogonadism and hepatosplenomegaly. H syndrome results from loss-of-function mutations i …
H syndrome is a rare autosomal recessive disorder with clinical features comprising: hyperpigmentation, hypertrichosis, hearin …
Loss of function of ENT3 drives histiocytosis and inflammation through TLR-MAPK signaling.
Shiloh R, Lubin R, David O, Geron I, Okon E, Hazan I, Zaliova M, Amarilyo G, Birger Y, Borovitz Y, Brik D, Broides A, Cohen-Kedar S, Harel L, Kristal E, Kozlova D, Ling G, Shapira Rootman M, Shefer Averbuch N, Spielman S, Trka J, Izraeli S, Yona S, Elitzur S. Shiloh R, et al. Blood. 2023 Nov 16;142(20):1740-1751. doi: 10.1182/blood.2023020714. Blood. 2023. PMID: 37738562
Patients with H syndrome are predisposed to develop histiocytosis, yet the mechanism is unclear. Here, through phenotypic, molecular, and functional analysis of primary cells from a cohort of patients with H syndrome, we reveal the molecular pathway le …
Patients with H syndrome are predisposed to develop histiocytosis, yet the mechanism is unclear. Here, through phenotypic, mol …
H syndrome treated with Tocilizumab: two case reports and literature review.
Jacquot R, Jouret M, Valentin MG, Richard M, Jamilloux Y, Rousset F, Emile JF, Haroche J, Steinmüller L, Zekre F, Phan A, Belot A, Seve P. Jacquot R, et al. Front Immunol. 2023 Aug 11;14:1061182. doi: 10.3389/fimmu.2023.1061182. eCollection 2023. Front Immunol. 2023. PMID: 37638031 Free PMC article. Review.
This deficiency leads to abnormal function and proliferation of histiocytes. H syndrome is part of the R-group of histiocytosis. We report two different cases, one was diagnosed in adulthood and the other in childhood. The first case reported is a 37-year-old woman …
This deficiency leads to abnormal function and proliferation of histiocytes. H syndrome is part of the R-group of histiocytosi …
H syndrome: Clinical, histological and genetic investigation in Tunisian patients.
Jaouadi H, Zaouak A, Sellami K, Messaoud O, Chargui M, Hammami H, Jones M, Jouini R, Chadli Debbiche A, Chraiet K, Fenniche S, Mrad R, Mokni M, Turki H, Benkhalifa R, Abdelhak S. Jaouadi H, et al. J Dermatol. 2018 Aug;45(8):978-985. doi: 10.1111/1346-8138.14359. Epub 2018 May 29. J Dermatol. 2018. PMID: 29808591
H syndrome is a rare autosomal recessive disorder with characteristic dermatological findings consisting of hyperpigmentation and hypertrichosis patches mainly located on the inner thighs and multisystemic involvement including hepatosplenomegaly, hearing loss, hear …
H syndrome is a rare autosomal recessive disorder with characteristic dermatological findings consisting of hyperpigmentation …
Mermaid syndrome associated with VACTERL-H syndrome.
Kitova TT, Uchikova EH, Uchikov PA, Kitov BD. Kitova TT, et al. Folia Med (Plovdiv). 2021 Apr 30;63(2):272-276. doi: 10.3897/folmed.63.e52900. Folia Med (Plovdiv). 2021. PMID: 33932019
Mermaid syndrome or sirenomelia is an extremely rare congenital malformation with an incidence between 1.5 and 4.2 per 1,000,000 pregnancies. Association of mermaid syndrome with VACTERL-H syndrome is extremely rare, with only two cases reported so far in the litera …
Mermaid syndrome or sirenomelia is an extremely rare congenital malformation with an incidence between 1.5 and 4.2 per 1,000,000 pregnancies …
Male fertility and skin diseases.
Abdel-Naser MB, Zouboulis CC. Abdel-Naser MB, et al. Rev Endocr Metab Disord. 2016 Sep;17(3):353-365. doi: 10.1007/s11154-016-9368-x. Rev Endocr Metab Disord. 2016. PMID: 27342409 Review.
The most relevant syndromes are associated with dyschromias, such as deSanctis-Cacchione, poikiloderma congenital, LEOPARD, and H syndrome; others with ichthyosis, such as Rud, and trichothiodystrophy; or a group of unrelated genodermatoses, such as ablepharon macro …
The most relevant syndromes are associated with dyschromias, such as deSanctis-Cacchione, poikiloderma congenital, LEOPARD, and H …
Glomerular involvement in children with H syndrome.
David O, Geylis M, Kristal E, Ling G, Schreiber R. David O, et al. Pediatr Nephrol. 2021 Mar;36(3):721-724. doi: 10.1007/s00467-020-04860-5. Epub 2021 Jan 2. Pediatr Nephrol. 2021. PMID: 33387019
BACKGROUND: H syndrome is a multisystem inflammatory disease caused by mutations in the SLC29A3 gene (OMIM #602782). ...CONCLUSIONS: Generalized peripheral pitting edema and glomerulopathy broaden the clinical spectrum of H syndrome. Periodic bloodwork …
BACKGROUND: H syndrome is a multisystem inflammatory disease caused by mutations in the SLC29A3 gene (OMIM #602782). ...CONCLU …
60 results