Zobrazeno 1 - 10 of 20 pro vyhledávání: '"omcrep/700"'
1
Decoding enigma: Turner syndrome with ring chromosome
Autor: Debarup Das, Debaditya Roy, Kaushik Basu, Anupam Sarkar
Publikováno v: Oxford Medical Case Reports
Ring chromosome X is one of the rarest with some unique phenotypical features in Turner syndrome. A young female presented to us with anasarca developed over the past 2 months due to congestive cardiac failure along with jaundice and orthopnea. She h
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20a06ce6632739d03c7c12daadb0e4c9
http://europepmc.org/articles/PMC8713580
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2
Multiple endocrine neoplasia 2A presenting in a family with a history of Hirschprung’s disease
Autor: Allison M Johns, Angela H Vuong, Omer A Hassan, Reese W Randle, Matthew A Gorris
Publikováno v: Oxford Medical Case Reports
Hirschprung’s disease co-occurs with multiple endocrine neoplasia type 2A infrequently but at a higher rate with certain RET mutations. We present a case of a patient evaluated for an adrenal incidentaloma with a history of familial Hirschprung’s
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::004ba3e99f3054c0d0d6a36afd0db089
http://europepmc.org/articles/PMC8713586
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5
Severe dyslipidemia associated with diabetic ketoacidosis in newly diagnosed female of type 1 diabetes mellitus
Autor: Ahmad Chreitah, Kheria Hijazia, Alaa Salloum, Leen Jamel Doya
Publikováno v: Oxford Medical Case Reports
Diabetic ketoacidosis (DKA) is considered as a serious complication of type 1 diabetes mellitus in pediatrics. Severe dyslipidemia in DKA is a rare eventuality. We report on a 10-year-old female presented with severe DKA. The serum was lipemic with s
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e4768f7dd346b4a24ce97114e931b75
https://doi.org/10.1093/omcr/omab036
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6
Laron syndrome in three female siblings with the development of subclinical hypothyroidism and dyslipidemia in one case: first report of a Syrian family
Autor: Kheria Hijazia, Ahmad Chreitah, Leen Jamel Doya
Publikováno v: Oxford Medical Case Reports
Laron syndrome (LS) is a rare autosomal recessive disorder characterized by dwarfism and typical facial phenotype. This report is the first to present three cases of Laron syndrome affecting three female siblings from Syria. The index case presented
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98a2cbc29ea79fb98e7f278c5e7412a1
https://doi.org/10.1093/omcr/omab079
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7
Takotsubo syndrome during surgery for pheochromocytoma: an unexpected complication
Autor: A Miron, Serban Balanescu, Livia Trasca, Octavian Enciu, Catalina Paraschiv
Publikováno v: Oxford Medical Case Reports
Takotsubo syndrome is a rare cause of systolic dysfunction and can be found as a clinical manifestation of pheochromocytoma. We present a case of rapid onset of systolic dysfunction with cardiogenic shock, which developed after the surgical excision
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::128ae0eb57c9f6845b1f43d64ac504ec
https://doi.org/10.1093/omcr/omab087
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8
Case of an unreported genetic variant of salt losing 3-β-hydroxysteroid dehydrogenase deficiency
Autor: Einas H Alkhatib, Emily R Miller, Stacie D Adams
Publikováno v: Oxford Medical Case Reports
Salt losing 3-β-hydroxysteroid dehydrogenase deficiency (HSD3B2) is a rare form of congenital adrenal hyperplasia, seen in G; p.His232Asp). This patient was referred to pediatric endocrinology and pediatric biochemical genetics following a fourth ho
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::703c416b85c140dd57a8f2d8e03cf4c0
http://europepmc.org/articles/PMC8143666
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9
Synchronous pituitary and pineal gland lesions presenting with panhypopituitarism in a patient with widespread colorectal cancer: a case report
Autor: Joel Capraro, Tristan Struja
Publikováno v: Oxford Medical Case Reports
A 60-year-old man presented to our hospital because of febrile neutropenia due to chemotherapy for his metastasized colon cancer. During hospital stay, polyuria and polydipsia were noted. He reported that his thirst had become increasingly intolerabl
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::782b36b55b022f6ace3a2882964bacce
https://doi.org/10.1093/omcr/omab030
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10
Leydig cell hypoplasia type 1 diagnosed in early childhood with inactivating mutation in LHCGR gene
Autor: Raif Yıldız, Fatma Seyrek, Fatma Özgüç Çömlek, Filiz Tutunculer
Publikováno v: Oxford Medical Case Reports
Leydig cell aplasia/hypoplasia is an autosomal recessive condition. In its complete form, these patients are 46XY but are cryptorchid and phenotypically female. Most cases reported in literature presented with in adolescence with pubertal delay. We r
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1fa9bc6f7da640ccdb600d3a20eb8a5
https://doi.org/10.1093/omcr/omab015
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Plný text Recenzováno Digitální knihovna AV ČR
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