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  1 / 105 MEDLINE  
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[PMID]:27531853
[Au] Autor:Gunnarsdóttir GM; Guðmundsdóttir A; Hellman P; Stålberg P
[Ti] Título:[Repeated non-epileptic seizures in a previously healthy young woman - a case report].
[So] Source:Laeknabladid;102(7-8):339-42, 2016 Jul.
[Is] ISSN:0023-7213
[Cp] País de publicação:Iceland
[La] Idioma:ice
[Ab] Resumo:UNLABELLED: A previously healthy 18 year old female has repeated admissions over a six week period to the emergency department because of seizures. She has no previous history of epilepsy and denies any drug use. Imaging and electroencephalogram do not indicate epilepsy. Blood sugar levels are low on two occasions, 1.3 mmol / L and 1.7mmól / L (4.0 - 6.0 mmol / L). After further investigations the suspicion of an insulin-producing tumor arises. Extensive research and imaging is conducted to look for tumor growth without any findings. Subsequently she was sent abroad for further evaluation with a 11C-5HTP-PET scan, selective angiography with celiacography and an intra-arterial calcium stimulation test. She was diagnosed with nesidioblastosis. Here we will discuss the presentation and work-up of the medical case and review this rare causative disease. KEY WORDS: repeated seizures, neuroglycopenic symptoms, noninsulinoma pancreatogenous hypoglycemia syndrome (NIPHS), endogenous hyperinsulinemic hypoglycemia, nesidioblastosis. Correspondence: Guðrun Mist Gunnarsdottir, gudrunmi@landspitali.is.
[Mh] Termos MeSH primário: Nesidioblastose/complicações
Convulsões/etiologia
[Mh] Termos MeSH secundário: Adolescente
Biomarcadores/sangue
Glicemia/metabolismo
Feminino
Seres Humanos
Nesidioblastose/sangue
Nesidioblastose/diagnóstico
Nesidioblastose/genética
Valor Preditivo dos Testes
Recidiva
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Biomarkers); 0 (Blood Glucose)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170206
[Lr] Data última revisão:
170206
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160818
[St] Status:MEDLINE
[do] DOI:10.17992/lbl.2016.0708.92


  2 / 105 MEDLINE  
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[PMID]:27367988
[Au] Autor:Yang Z; Tan H; Sun Y; Si S; Xu L; Liu X; Liu L; Zhou W; Huang J
[Ad] Endereço:Department of Hepatobiliary Surgery, China-Japan Friendship Hospital, Beijing, China.
[Ti] Título:Intraoperative portal vein insulin assay combined with occlusion of the pancreas for complex pancreatogenous hypoglycemia: Two cases report.
[So] Source:Medicine (Baltimore);95(26):e3928, 2016 Jun.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Intraoperative localization and confirmation of complete resection of the hypersecreting tissue are the 2 main challenges in the management of pancreatogenous hypoglycemia. Here, we report our experience with intraoperative portal vein insulin assay combined with occlusion of the pancreas in the management of pancreatogenous hypoglycemia. Clinical courses of 2 patients with biochemical evidence of a pancreatogenous hypoglycemia were studied. The preoperative diagnosis was multiple endocrine neoplasia 1 (MEN-1) and nesidioblastosis, respectively. Rapid intraoperative portal vein insulin assay combined with occlusion of the pancreas was used to localize and confirm complete excision of the hypersecreting tissue. Hypoglycemia was successfully treated in both the patients. In the MEN-1 patient, 2 small tumors in the head of pancreas were not resected, as they were deemed noninsulin secreting by intraoperative portal vein insulin assay, thus avoiding a total pancreatectomy. In the patient with nesidioblastosis, using intraoperative portal vein insulin assay combined with occlusion of the pancreas, an appropriate amount of pancreatic tissue was resected thereby avoiding recurrence and diabetes. This technique may be of particular value in patients with complex conditions such as MEN-1 and nesidioblastosis, to localize and achieve complete resection of hypersecreting pancreatic tissue.
[Mh] Termos MeSH primário: Hipoglicemia/sangue
Hipoglicemia/cirurgia
Insulina/sangue
Monitorização Intraoperatória
Neoplasia Endócrina Múltipla Tipo 1/cirurgia
Nesidioblastose/cirurgia
Pancreatectomia/métodos
Neoplasias Pancreáticas/cirurgia
[Mh] Termos MeSH secundário: Adulto
Feminino
Seres Humanos
Hipoglicemia/etiologia
Masculino
Neoplasia Endócrina Múltipla Tipo 1/complicações
Nesidioblastose/complicações
Ductos Pancreáticos
Neoplasias Pancreáticas/complicações
Veia Porta
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Insulin)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170222
[Lr] Data última revisão:
170222
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:160702
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000003928


  3 / 105 MEDLINE  
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[PMID]:27057885
[Au] Autor:Schwetz V; Horvath K; Kump P; Lackner C; Perren A; Forrer F; Pieber TR; Treiber G; Sourij H; Mader JK
[Ad] Endereço:From the Division of Endocrinology and Diabetology (VS, KH, TRP, GT, HS, JKM); Division of Gastroenterology and Hepatology (PK), Department of Internal Medicine; Department of Pathology (CL), Medical University of Graz, Austria; Institute of Pathology (AP), University of Bern, Switzerland; Department of Radiology and Nuclear Medicine (FF), Kantonsspital St. Gallen, St. Gallen, Switzerland.
[Ti] Título:Successful Medical Treatment of Adult Nesidioblastosis With Pasireotide over 3 Years: A Case Report.
[So] Source:Medicine (Baltimore);95(14):e3272, 2016 Apr.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Nesidioblastosis is a rare cause of endogenous hyperinsulinemic hypoglycemia in adults. Diagnosis is often challenging and therapeutic options are scarce.In 2009, a 46-year-old female patient presented with recurrent severe hypoglycemia and immediate recovery after glucose ingestion. Although 72-h-fasting test was positive, various imaging technologies (sonography, computed tomography, somatostatin receptor scintigraphy, dopamine receptor positron emission tomography [DOPA-PET]) were negative. Endoscopic ultrasound revealed a lesion in the pancreatic corpus, whereas selective arterial calcium stimulation test, portal venous sampling and GLP-1-receptor scintigraphy were indicative of a lesion in the pancreatic tail, which was surgically removed. The histopathologic examination revealed beta cell hyperplasia and microadenomas expressing glucagon. After surgery, the patient was free of symptoms for 6 months, after which hypoglycemic episodes recurred. After unsuccessful treatment with corticosteroids and somatostatin analogs, treatment with pasireotide, a novel somatostatin analog with high affinity to somatostatin receptor 5 and a possible side effect of hyperglycemia, was initiated (0.6 mg BID). To date, our patient has been free of severe hypoglycemic episodes ever since. Yearly repeated imaging procedures have shown no abnormities over the last 3 years.We report for the first time that pasireotide was successfully used in the treatment of adult nesidioblastosis.
[Mh] Termos MeSH primário: Nesidioblastose/tratamento farmacológico
Somatostatina/análogos & derivados
[Mh] Termos MeSH secundário: Feminino
Seres Humanos
Meia-Idade
Indução de Remissão
Somatostatina/uso terapêutico
Fatores de Tempo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
51110-01-1 (Somatostatin); 98H1T17066 (pasireotide)
[Em] Mês de entrada:1608
[Cu] Atualização por classe:170224
[Lr] Data última revisão:
170224
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:160409
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000003272


  4 / 105 MEDLINE  
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[PMID]:26901345
[Au] Autor:Vilarrasa N; Goday A; Rubio MA; Caixàs A; Pellitero S; Ciudin A; Calañas A; Botella JI; Bretón I; Morales MJ; Díaz-Fernández MJ; García-Luna PP; Lecube A
[Ad] Endereço:Department of Endocrinology and Nutrition, Hospital Universitario de Bellvitge-IDIBELL, Lx00B4;Hospitalet de Llobregat, Barcelona, Spain.
[Ti] Título:Hyperinsulinemic Hypoglycemia after Bariatric Surgery: Diagnosis and Management Experience from a Spanish Multicenter Registry.
[So] Source:Obes Facts;9(1):41-51, 2016.
[Is] ISSN:1662-4033
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Severe postprandial hypoglycemia after bariatric surgery is a rare but invalidating complication. Our aim was to describe the different tests performed for its diagnosis and their outcomes as well as the response to the prescribed pharmacological and surgical treatments. METHODS: Multicenter, retrospective systematic review of cases with recurrent severe postprandial hypoglycemia. RESULTS: Over 11 years of follow-up, 22 patients were identified. The test most used to provoke hypoglycemia was the oral glucose load test followed by the mixed meal test which was the least standardized test. With pharmacological treatment, 3 patients were symptom-free (with octreotide) and in 12 patients hypoglycemic episodes were attenuated. Seven patients had persistent hypoglycemic episodes and underwent surgery. Partial pancreatectomy was performed in 3 patients who had positive selective arterial calcium stimulation, and nesidioblastosis was confirmed in 2 patients. Reconversion to normal anatomy was performed in 3 patients, and 1 patient underwent a resection of the 'candy cane' roux limb, with resolution of hypoglycemia in all cases. CONCLUSIONS: There is high heterogeneity in the evaluation and treatment options for postoperative hypoglycemia. In patients that do not respond to pharmacological treatment, reconstruction of gastrojejunal continuity may be the safest and most successful procedure.
[Mh] Termos MeSH primário: Cirurgia Bariátrica/efeitos adversos
Hiperinsulinismo/etiologia
Hipoglicemia/etiologia
[Mh] Termos MeSH secundário: Adulto
Feminino
Teste de Tolerância a Glucose
Seres Humanos
Hiperinsulinismo/sangue
Hipoglicemia/diagnóstico
Hipoglicemia/epidemiologia
Hipoglicemia/terapia
Incidência
Jejuno/cirurgia
Masculino
Meia-Idade
Nesidioblastose/complicações
Nesidioblastose/diagnóstico
Nesidioblastose/epidemiologia
Octreotida/uso terapêutico
Pancreatectomia
Sistema de Registros
Estudos Retrospectivos
Espanha/epidemiologia
Estômago/cirurgia
[Pt] Tipo de publicação:JOURNAL ARTICLE; MULTICENTER STUDY; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
RWM8CCW8GP (Octreotide)
[Em] Mês de entrada:1610
[Cu] Atualização por classe:161230
[Lr] Data última revisão:
161230
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160223
[St] Status:MEDLINE
[do] DOI:10.1159/000442764


  5 / 105 MEDLINE  
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[PMID]:26686307
[Au] Autor:Chaux F; Franco M; Varela JE
[Ad] Endereço:Diabetes Surgery Institute, Bogota D.C., Colombia.
[Ti] Título:Metabolic surgery provides remission of pancreatogenic diabetes in a non-obese patient.
[So] Source:Surg Obes Relat Dis;12(3):e25-e26, 2016 Mar-Apr.
[Is] ISSN:1878-7533
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Cirurgia Bariátrica/métodos
Diabetes Mellitus Tipo 1/cirurgia
Nesidioblastose/cirurgia
[Mh] Termos MeSH secundário: Adolescente
Diabetes Mellitus Tipo 1/tratamento farmacológico
Feminino
Derivação Gástrica/métodos
Seres Humanos
Hipoglicemiantes/uso terapêutico
Insulinas/uso terapêutico
Laparoscopia/métodos
Metformina/uso terapêutico
Pancreatectomia/métodos
Resultado do Tratamento
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Hypoglycemic Agents); 0 (Insulins); 9100L32L2N (Metformin)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171016
[Lr] Data última revisão:
171016
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151222
[St] Status:MEDLINE


  6 / 105 MEDLINE  
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[PMID]:26658039
[Au] Autor:De Sousa SM; Haghighi KS; Qiu MR; Greenfield JR; Chen DL
[Ad] Endereço:From the *Department of Endocrinology, St Vincent's Hospital; †Hormones and Cancer Group, Garvan Institute of Research; ‡Department of Upper Gastrointestinal and Hepatopancreatobiliary Surgery, St Vincent's Hospital, Darlinghurst; §Department of Upper Gastrointestinal and Hepatopancreatobiliary Surgery, Prince of Wales Hospital, Randwick; ∥Faculty of Medicine, University of New South Wales, Randwick; ¶Sydpath, Department of Anatomical Pathology, St Vincent's Hospital; and #Diabetes and Metabolism Division, Garvan Institute of Research, Darlinghurst, NSW, Australia.
[Ti] Título:Synchronous Nesidioblastosis, Endocrine Microadenoma, and Intraductal Papillary Mucinous Neoplasia in a Man Presenting With Hyperinsulinemic Hypoglycemia.
[So] Source:Pancreas;45(1):154-9, 2016 Jan.
[Is] ISSN:1536-4828
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Herein, we report the first case of concomitant nesidioblastosis, pancreatic neuroendocrine tumor, and intraductal papillary mucinous neoplasia. The combination is significant as each of these pathological entities is independently very rare. The patient was a 33-year-old man who presented with symptomatic hyperinsulinemic hypoglycemia and no risk factors for pancreatic disease. Abdominal imaging showed an isolated 12 mm pancreatic lesion, whilst selective arterial calcium stimulation testing demonstrated multiple territories of insulin excess. He proceeded to subtotal pancreatectomy. Histopathology revealed an endocrine microadenoma, α and ß cell nesidioblastosis, and multifocal intraductal papillary mucinous neoplasia. The endocrine microadenoma and nesidioblastosis stained for insulin, suggesting both likely contributed to hypoglycemia. Glucagon immunohistochemistry was also positive, though there were no clinical features of glucagon excess. Hypoglycemia resolved postoperatively. This case and other evidence from the literature suggest that hyperplasia and neoplasia may occur sequentially in the pancreas, and that endocrine and exocrine tumorigenesis may be linked in some individuals. Further study is required to identify a unifying mechanism, and to elucidate potential ramifications in the management of patients with pancreatic neoplasms.
[Mh] Termos MeSH primário: Adenoma/complicações
Hiperinsulinismo/etiologia
Hipoglicemia/etiologia
Neoplasias Císticas, Mucinosas e Serosas/complicações
Neoplasias Primárias Múltiplas
Nesidioblastose/complicações
Tumores Neuroendócrinos/complicações
Neoplasias Pancreáticas/complicações
[Mh] Termos MeSH secundário: Adenoma/patologia
Adenoma/cirurgia
Adulto
Biópsia
Glicemia/metabolismo
Diagnóstico Diferencial
Seres Humanos
Hiperinsulinismo/sangue
Hiperinsulinismo/diagnóstico
Hipoglicemia/sangue
Hipoglicemia/diagnóstico
Imuno-Histoquímica
Insulina/sangue
Masculino
Neoplasias Císticas, Mucinosas e Serosas/patologia
Neoplasias Císticas, Mucinosas e Serosas/cirurgia
Nesidioblastose/diagnóstico
Nesidioblastose/cirurgia
Tumores Neuroendócrinos/diagnóstico
Tumores Neuroendócrinos/cirurgia
Testes de Função Pancreática
Neoplasias Pancreáticas/diagnóstico
Neoplasias Pancreáticas/cirurgia
Valor Preditivo dos Testes
Fatores de Risco
Fatores de Tempo
Tomografia Computadorizada por Raios X
Resultado do Tratamento
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Blood Glucose); 0 (Insulin)
[Em] Mês de entrada:1609
[Cu] Atualização por classe:151215
[Lr] Data última revisão:
151215
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151215
[St] Status:MEDLINE
[do] DOI:10.1097/MPA.0000000000000430


  7 / 105 MEDLINE  
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[PMID]:26318442
[Au] Autor:Agrawal T; Blau AJ; Chwals WJ; Tischler AS
[Ad] Endereço:Departments of Pathology and Laboratory Medicine, Tufts Medical Center, Boston, MA, USA. tagrawal@tuftsmedicalcenter.org.
[Ti] Título:A Unique Case of Mediastinal Teratoma with Mature Pancreatic Tissue, Nesidioblastosis, and Aberrant Islet Differentiation: a Case Report and Literature Review.
[So] Source:Endocr Pathol;27(1):21-4, 2016 Mar.
[Is] ISSN:1559-0097
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Mediastinal teratomas with elements of mature pancreatic tissue are rare. Only a very few cases of pancreatic tissue with nesidioblastosis in teratoma have been reported. Here, we report a case of a 12-year-old male who presented with pleural effusion and was revealed to have a large anterior mediastinal mass. Biopsy of the mass revealed benign mature teratoma. After biopsy, the teratoma ruptured into the right thoracic cavity. It was then excised and sent to pathology for further evaluation. Preoperatively, there was no evidence of hyperinsulinemia or hypoglycemia. Postoperatively, there was no change in blood glucose levels. Histologically, the mass showed large areas of mature pancreatic tissue flanking a small intestine-like structure. Numerous endocrine cell islets, poorly defined groups of neuroendocrine cells and ductular-insular complexes characteristic of nesidioblastosis were dispersed in the exocrine pancreatic parenchyma. In addition, other parts of the tumor containing keratinizing squamous epithelium with cutaneous adnexal glands, small intestine, and bronchus including cartilage and respiratory epithelium were observed. Some islets contained two or more cell types while others were monophenotypic. Immunohistochemical staining showed pronounced expression of pancreatic polypeptide, moderate expression of somatostatin and insulin and nearly complete absence of glucagon-containing cells. The selective deletion of glucagon might hold clues to an important regulatory mechanism in pancreatic development.
[Mh] Termos MeSH primário: Neoplasias do Mediastino/patologia
Pâncreas/patologia
Teratoma/patologia
[Mh] Termos MeSH secundário: Biomarcadores Tumorais/análise
Diferenciação Celular
Criança
Glucagon/metabolismo
Seres Humanos
Imuno-Histoquímica
Ilhotas Pancreáticas/patologia
Masculino
Nesidioblastose/patologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Biomarkers, Tumor); 9007-92-5 (Glucagon)
[Em] Mês de entrada:1611
[Cu] Atualização por classe:171107
[Lr] Data última revisão:
171107
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150831
[St] Status:MEDLINE
[do] DOI:10.1007/s12022-015-9393-4


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[PMID]:26355554
[Au] Autor:Martin-Grace J; O'Tuathail M; Hannon MJ; Swan N; O'Shea D; Tamagno G
[Ad] Endereço:Department of Endocrinology and Diabetes Mellitus St Vincent's University Hospital University College Dublin Dublin, Ireland Department of Pathology and Laboratory Medicine St Vincent's University Hospital University College Dublin Dublin, Ireland Department of Endocrinology and Diabetes Mellitus St Vincent's University Hospital University College Dublin Dublin, Ireland Department of General Internal Medicine St Columcille's Hospital, Loughlinstown Co. Dublin, Ireland gianlucatamagno@tiscali.it.
[Ti] Título:Amlodipine for the Medical Treatment of Adult-Onset Diffuse Nesidioblastosis.
[So] Source:Pancreas;44(7):1162-4, 2015 Oct.
[Is] ISSN:1536-4828
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Anlodipino/uso terapêutico
Nesidioblastose/diagnóstico
Nesidioblastose/tratamento farmacológico
[Mh] Termos MeSH secundário: Adulto
Anti-Hipertensivos/uso terapêutico
Feminino
Seres Humanos
Nesidioblastose/cirurgia
Pancreatectomia/métodos
Período Pós-Operatório
Resultado do Tratamento
[Pt] Tipo de publicação:CASE REPORTS; LETTER
[Nm] Nome de substância:
0 (Antihypertensive Agents); 1J444QC288 (Amlodipine)
[Em] Mês de entrada:1606
[Cu] Atualização por classe:150911
[Lr] Data última revisão:
150911
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150911
[St] Status:MEDLINE
[do] DOI:10.1097/MPA.0000000000000407


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[PMID]:26323473
[Au] Autor:Valli V; Blandamura S; Pastorelli D; Merigliano S; Sperti C
[Ti] Título:Nesidioblastosis coexisting with non-functioning islet cell tumour in an adult.
[So] Source:Endokrynol Pol;66(4):356-60, 2015.
[Is] ISSN:2299-8306
[Cp] País de publicação:Poland
[La] Idioma:eng
[Ab] Resumo:The most common cause of hyperinsulinaemic hypoglycaemia in adult is insulinoma. Although nesidioblastosis is a rare but well-recognized disorder of persistent hypoglycaemia in infants, it is extremely rare in adults.We present a case of a 59-year-old woman with small neuroendocrine tumour of the tail of the pancreas, diagnosed by CT scans and MRI, and hypoglycaemic syndrome. Laparoscopic distal pancreatectomy was performed, and pathologic examination showed a well-differentiated, non-functioning endocrine tumour of the pancreas and diffuse nesidioblastosis in the remnant gland. In the early postoperative period, recurrent hypoglycaemia occurred in spite of oral diazoxide therapy. Plasma proinsulin levels were extremely high. 18F-DOPA positron emission tomography showed a pathologic uptake of tracer in the head and the uncinate process of the pancreas. Subtotal pancreatectomy was suggested but the patient refused operation: she is taking diazoxide 100 mg three times daily. Coexistence of nesidioblastosis with a neuroendocrine tumour makes preoperative diagnosis and management of severe hypoglycaemia more difficult. Nesidioblastosis should be considered in differential diagnosis of hypoglycaemic syndrome, but histological examination is necessary for a definitive tissue diagnosis.
[Mh] Termos MeSH primário: Nesidioblastose/complicações
Neoplasias Pancreáticas/complicações
[Mh] Termos MeSH secundário: Diazóxido/uso terapêutico
Feminino
Seres Humanos
Meia-Idade
Nesidioblastose/sangue
Nesidioblastose/diagnóstico
Nesidioblastose/tratamento farmacológico
Pâncreas/efeitos dos fármacos
Pâncreas/cirurgia
Neoplasias Pancreáticas/diagnóstico
Neoplasias Pancreáticas/cirurgia
Proinsulina/sangue
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
9035-68-1 (Proinsulin); O5CB12L4FN (Diazoxide)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170302
[Lr] Data última revisão:
170302
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150902
[St] Status:MEDLINE
[do] DOI:10.5603/EP.2015.0045


  10 / 105 MEDLINE  
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[PMID]:26323472
[Au] Autor:Gilis-Januszewska A; Piatkowski J; Skalniak A; Piwonska-Solska B; Nazim J; Pach D; Przybylik-Mazurek E; Sowa-Staszczak A; Starzyk J; Hubalewska-Dydejczyk A
[Ad] Endereço:Chair and Department of Endocrinology Jagiellonian University, Medical College. myjanusz@cyfronet.pl.
[Ti] Título:Noninsulinoma pancreatogenous hypoglycaemia in adults--a spotlight on its genetics.
[So] Source:Endokrynol Pol;66(4):344-54, 2015.
[Is] ISSN:2299-8306
[Cp] País de publicação:Poland
[La] Idioma:eng
[Ab] Resumo:Hyperinsulinaemic hypoglycaemia (HH) is also classically referred to as "nesidioblastosis". Heterogeneous clinical manifestation of the disease causes risk of late diagnosis or even misdiagnosis. In infants and children, it can lead to serious and permanent damage to the central nervous system, which leads to the manifesting mental retardation. HH is characterised by unregulated insulin secretion from pancreatic ß-cells. This effect has been correlated with nine genes: ABCC8, KCNJ11, GCK, GLUD-1, HADH1, SLC16A1, HNF4A, HNF1A, and UCP2. Mutations in these genes were found in approximately 48% of cases. The genetic background of the remaining cases is unknown. Understanding the genetic basis of familial hyperinsulinism has changed the early look at the disease. It has allowed for the differentiation of specific types of the disease. Depending on which of the nine disease-associated loci bears a pathogenic mutation, they differ in phenotype and pattern of inheritance. This review provides a brief overview of the genetic mechanisms of HH and its possible clinical presentations.
[Mh] Termos MeSH primário: Hipoglicemia/genética
Mutação
Nesidioblastose/genética
[Mh] Termos MeSH secundário: Adulto
Seres Humanos
Hipoglicemia/metabolismo
Nesidioblastose/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170302
[Lr] Data última revisão:
170302
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150902
[St] Status:MEDLINE
[do] DOI:10.5603/EP.2015.0044



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BIREME/OPAS/OMS - Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde