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Tytuł:
Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus.
Autorzy:
Strych L; Department of Medical Genetics, Faculty of Medicine in Pilsen, Charles University and University Hospital Pilsen, Pilsen, Czech Republic. .
Černá M; Department of Medical Genetics, Faculty of Medicine in Pilsen, Charles University and University Hospital Pilsen, Pilsen, Czech Republic.
Hejnalová M; Department of Medical Genetics, Faculty of Medicine in Pilsen, Charles University and University Hospital Pilsen, Pilsen, Czech Republic.
Zavoral T; Department of Medical Genetics, Faculty of Medicine in Pilsen, Charles University and University Hospital Pilsen, Pilsen, Czech Republic.
Komrsková P; Department of Medical Genetics, Faculty of Medicine in Pilsen, Charles University and University Hospital Pilsen, Pilsen, Czech Republic.
Tejcová J; Department of Medical Genetics, Faculty of Medicine in Pilsen, Charles University and University Hospital Pilsen, Pilsen, Czech Republic.
Bitar I; Biomedical Center, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic.; Department of Microbiology, Faculty of Medicine in Pilsen, Charles University and University Hospital Pilsen, Pilsen, Czech Republic.
Sládková E; Department of Pediatrics, Faculty of Medicine in Pilsen, Charles University and University Hospital Pilsen, Pilsen, Czech Republic.
Sýkora J; Department of Pediatrics, Faculty of Medicine in Pilsen, Charles University and University Hospital Pilsen, Pilsen, Czech Republic.
Šubrt I; Department of Medical Genetics, Faculty of Medicine in Pilsen, Charles University and University Hospital Pilsen, Pilsen, Czech Republic. .
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Źródło:
BMC medical genomics [BMC Med Genomics] 2024 Jan 22; Vol. 17 (1), pp. 29. Date of Electronic Publication: 2024 Jan 22.
Typ publikacji:
Journal Article
MeSH Terms:
Diabetes Insipidus, Nephrogenic*/genetics
Diabetes Mellitus*
Female ; Humans ; Male ; Kidney ; Gene Deletion ; Genetic Testing ; Heterozygote ; Rare Diseases
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Structural and functional analysis of aquaporin-2 mutants involved in nephrogenic diabetes insipidus.
Autorzy:
Hagströmer CJ; Department of Biochemistry and Structural Biology, Lund University, Lund, Sweden.
Hyld Steffen J; Department of Biomedical Sciences, University of Copenhagen, Copenhagen, Denmark.
Kreida S; Department of Biochemistry and Structural Biology, Lund University, Lund, Sweden.
Al-Jubair T; Department of Biochemistry and Structural Biology, Lund University, Lund, Sweden.
Frick A; Department of Chemistry and Molecular Biology, University of Gothenburg, Gothenburg, Sweden.
Gourdon P; Department of Biomedical Sciences, University of Copenhagen, Copenhagen, Denmark.; Department of Experimental Medical Science, Lund University, Lund, Sweden.
Törnroth-Horsefield S; Department of Biochemistry and Structural Biology, Lund University, Lund, Sweden. .
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Źródło:
Scientific reports [Sci Rep] 2023 Sep 06; Vol. 13 (1), pp. 14674. Date of Electronic Publication: 2023 Sep 06.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Diabetes Insipidus, Nephrogenic*/genetics
Diabetes Mellitus*
Humans ; Aquaporin 2/genetics ; Arginine Vasopressin ; Biological Assay ; Biophysics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
[Lithium-induced nephrogenic diabetes insipidus during acute intoxication: a case report].
Autorzy:
Echater S; Etablissement Public de Santé Ville Evrard, Neuilly sur Marne, France.; Service de Psychiatrie, CHU Mohammed VI, Faculté de Médecine et de la Pharmacie, Université Mohammed I, Oujda, Maroc.
Hasnaoui M; Etablissement Public de Santé Ville Evrard, Neuilly sur Marne, France.; Service de Psychiatrie, CHU Mohammed VI, Faculté de Médecine et de la Pharmacie, Université Mohammed I, Oujda, Maroc.
Lechner E; Etablissement Public de Santé Ville Evrard, Neuilly sur Marne, France.
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Transliterated Title:
Diabète insipide néphrogénique induit par le lithium au cours d’une intoxication aiguë: à propos d’un cas.
Źródło:
The Pan African medical journal [Pan Afr Med J] 2023 Jun 07; Vol. 45, pp. 77. Date of Electronic Publication: 2023 Jun 07 (Print Publication: 2023).
Typ publikacji:
Case Reports; English Abstract
MeSH Terms:
Diabetes Insipidus, Nephrogenic*/chemically induced
Diabetes Insipidus, Nephrogenic*/diagnosis
Diabetes Insipidus*
Bipolar Disorder*/drug therapy
Diabetes Mellitus*
Humans ; Lithium ; Dehydration
Raport
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Transient distal renal tubular acidosis with nephrogenic diabetes insipidus after general anaesthesia in a dog.
Autorzy:
Ku D; Laboratory of Veterinary Internal Medicine, College of Veterinary Medicine, Chungbuk National University, Cheongju, Chungbuk, Republic of Korea.
Lee D; Laboratory of Veterinary Internal Medicine, College of Veterinary Medicine, Chungbuk National University, Cheongju, Chungbuk, Republic of Korea.
Yun T; Laboratory of Veterinary Internal Medicine, College of Veterinary Medicine, Chungbuk National University, Cheongju, Chungbuk, Republic of Korea.
Koo Y; Laboratory of Veterinary Internal Medicine, College of Veterinary Medicine, Chungbuk National University, Cheongju, Chungbuk, Republic of Korea.
Chae Y; Laboratory of Veterinary Internal Medicine, College of Veterinary Medicine, Chungbuk National University, Cheongju, Chungbuk, Republic of Korea.
Choi D; Laboratory of Veterinary Internal Medicine, College of Veterinary Medicine, Chungbuk National University, Cheongju, Chungbuk, Republic of Korea.
Choi M; Laboratory of Veterinary Internal Medicine, College of Veterinary Medicine, Chungbuk National University, Cheongju, Chungbuk, Republic of Korea.
Kang BT; Laboratory of Veterinary Internal Medicine, College of Veterinary Medicine, Chungbuk National University, Cheongju, Chungbuk, Republic of Korea.
Yang MP; Laboratory of Veterinary Internal Medicine, College of Veterinary Medicine, Chungbuk National University, Cheongju, Chungbuk, Republic of Korea.
Kim H; Laboratory of Veterinary Internal Medicine, College of Veterinary Medicine, Chungbuk National University, Cheongju, Chungbuk, Republic of Korea.
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Źródło:
Veterinary medicine and science [Vet Med Sci] 2023 Jul; Vol. 9 (4), pp. 1483-1487. Date of Electronic Publication: 2023 May 24.
Typ publikacji:
Case Reports; Research Support, Non-U.S. Gov't
MeSH Terms:
Acidosis, Renal Tubular*/diagnosis
Acidosis, Renal Tubular*/etiology
Acidosis, Renal Tubular*/veterinary
Diabetes Insipidus, Nephrogenic*/diagnosis
Diabetes Insipidus, Nephrogenic*/veterinary
Diabetes Insipidus, Nephrogenic*/complications
Acidosis*/complications
Acidosis*/veterinary
Diabetes Mellitus*/veterinary
Dog Diseases*/diagnosis
Dog Diseases*/drug therapy
Dog Diseases*/etiology
Dogs ; Female ; Animals ; Polyuria/complications ; Polyuria/veterinary ; Dehydration/complications ; Dehydration/veterinary ; Polydipsia/complications ; Polydipsia/veterinary ; Anesthesia, General/adverse effects ; Anesthesia, General/veterinary ; Vomiting/veterinary
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Safety and incremental prognostic value of stress cardiovascular magnetic resonance in patients with known chronic kidney disease.
Autorzy:
Pezel T; Université de Paris Cité, Service de Cardiologie, Hôpital Lariboisière-APHP, Inserm UMRS 942, 75010, Paris, France.; CMR Department-ICPS, Institut Cardiovasculaire Paris Sud, Cardiovascular Magnetic Resonance Laboratory, Hôpital Privé Jacques CARTIER, Ramsay Santé, 6 Avenue du Noyer Lambert, 91300, Massy, France.; Université de Paris Cité, Service de Radiologie, Hôpital Lariboisière-APHP, 75010, Paris, France.
Unterseeh T; CMR Department-ICPS, Institut Cardiovasculaire Paris Sud, Cardiovascular Magnetic Resonance Laboratory, Hôpital Privé Jacques CARTIER, Ramsay Santé, 6 Avenue du Noyer Lambert, 91300, Massy, France.
Hovasse T; CMR Department-ICPS, Institut Cardiovasculaire Paris Sud, Cardiovascular Magnetic Resonance Laboratory, Hôpital Privé Jacques CARTIER, Ramsay Santé, 6 Avenue du Noyer Lambert, 91300, Massy, France.
Sanguineti F; CMR Department-ICPS, Institut Cardiovasculaire Paris Sud, Cardiovascular Magnetic Resonance Laboratory, Hôpital Privé Jacques CARTIER, Ramsay Santé, 6 Avenue du Noyer Lambert, 91300, Massy, France.
Garot P; CMR Department-ICPS, Institut Cardiovasculaire Paris Sud, Cardiovascular Magnetic Resonance Laboratory, Hôpital Privé Jacques CARTIER, Ramsay Santé, 6 Avenue du Noyer Lambert, 91300, Massy, France.
Champagne S; CMR Department-ICPS, Institut Cardiovasculaire Paris Sud, Cardiovascular Magnetic Resonance Laboratory, Hôpital Privé Jacques CARTIER, Ramsay Santé, 6 Avenue du Noyer Lambert, 91300, Massy, France.
Toupin S; Siemens Healthcare France, 93200, Saint-Denis, France.
Ah-Sing T; Université de Paris Cité, Service de Radiologie, Hôpital Lariboisière-APHP, 75010, Paris, France.
Faradji A; Université de Paris Cité, Service de Radiologie, Hôpital Lariboisière-APHP, 75010, Paris, France.
Nicol M; Université de Paris Cité, Service de Cardiologie, Hôpital Lariboisière-APHP, Inserm UMRS 942, 75010, Paris, France.; Université de Paris Cité, Service de Radiologie, Hôpital Lariboisière-APHP, 75010, Paris, France.
Hamzi L; Université de Paris Cité, Service de Radiologie, Hôpital Lariboisière-APHP, 75010, Paris, France.
Dillinger JG; Université de Paris Cité, Service de Cardiologie, Hôpital Lariboisière-APHP, Inserm UMRS 942, 75010, Paris, France.
Henry P; Université de Paris Cité, Service de Cardiologie, Hôpital Lariboisière-APHP, Inserm UMRS 942, 75010, Paris, France.
Bousson V; Université de Paris Cité, Service de Radiologie, Hôpital Lariboisière-APHP, 75010, Paris, France.
Garot J; CMR Department-ICPS, Institut Cardiovasculaire Paris Sud, Cardiovascular Magnetic Resonance Laboratory, Hôpital Privé Jacques CARTIER, Ramsay Santé, 6 Avenue du Noyer Lambert, 91300, Massy, France. .
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Źródło:
Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance [J Cardiovasc Magn Reson] 2023 Jun 12; Vol. 25 (1), pp. 29. Date of Electronic Publication: 2023 Jun 12.
Typ publikacji:
Journal Article
MeSH Terms:
Contrast Media*
Nephrogenic Fibrosing Dermopathy*
Male ; Humans ; Female ; Gadolinium ; Prognosis ; Retrospective Studies ; Predictive Value of Tests ; Magnetic Resonance Spectroscopy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Tamoxifen Affects Aquaporin-3 Expression and Subcellular Localization in Rat and Human Renal Collecting Ducts.
Autorzy:
Tingskov SJ; Department of Clinical Medicine, Aarhus University, 8200 Aarhus N, Denmark.
D'Agostino M; Department of Bioscience, Biotechnologies and Environment, University of Bari, 70125 Bari, Italy.
Login FH; Department of Clinical Medicine, Aarhus University, 8200 Aarhus N, Denmark.
Tamma G; Department of Bioscience, Biotechnologies and Environment, University of Bari, 70125 Bari, Italy.
Nejsum LN; Department of Clinical Medicine, Aarhus University, 8200 Aarhus N, Denmark.
Nørregaard R; Department of Clinical Medicine, Aarhus University, 8200 Aarhus N, Denmark.; Department of Renal Medicine, Aarhus University Hospital, 8200 Aarhus N, Denmark.
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Źródło:
Cells [Cells] 2023 Apr 12; Vol. 12 (8). Date of Electronic Publication: 2023 Apr 12.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Kidney Tubules, Collecting*
Diabetes Insipidus, Nephrogenic*
Ureteral Obstruction*
Rats ; Humans ; Animals ; Dogs ; Aquaporin 3/metabolism ; Lithium/pharmacology ; Tamoxifen/pharmacology ; Kidney/metabolism ; Aquaporin 2/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Profound hyponatremia and dehydration: A case of cisplatin induced renal salt wasting syndrome.
Autorzy:
George TB; Department of Internal Medicine, UPMC McKeesport, Pittsburgh, Pennsylvania, USA.
Kuriakose K; Department of Hospital Medicine, UPMC Mercy, Pittsburgh, Pennsylvania, USA.
Pillai AC; Department of Internal Medicine, UPMC McKeesport, Pittsburgh, Pennsylvania, USA.
Powell T; PINE Nephrology, UPMC McKeesport, Pittsburgh, Pennsylvania, USA.
Kleyman TR; Department of Medicine, Department of Cell Biology, Department of Pharmacology and Chemical Biology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
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Źródło:
Physiological reports [Physiol Rep] 2023 Mar; Vol. 11 (5), pp. e15617.
Typ publikacji:
Case Reports; Research Support, N.I.H., Extramural
MeSH Terms:
Hyponatremia*
Acute Kidney Injury*
Diabetes Insipidus, Nephrogenic*
Aged ; Male ; Humans ; Cisplatin ; Dehydration
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
β3 Adrenergic Receptor Agonist Mirabegron Increases AQP2 and NKCC2 Urinary Excretion in OAB Patients: A Pleiotropic Effect of Interest for Patients with X-Linked Nephrogenic Diabetes Insipidus.
Autorzy:
Milano S; Department of Biosciences, Biotechnology and Biopharmaceutics, University of Bari, 70125 Bari, Italy.
Maqoud F; Department of Biosciences, Biotechnology and Biopharmaceutics, University of Bari, 70125 Bari, Italy.
Rutigliano M; Urology, Andrology and Kidney Transplantation Unit, Department of Emergency and Organ Transplantation, University of Bari, 70124 Bari, Italy.
Saponara I; Department of Biosciences, Biotechnology and Biopharmaceutics, University of Bari, 70125 Bari, Italy.
Carmosino M; Department of Science, University of Potenza, 85100 Potenza, Italy.
Gerbino A; Department of Biosciences, Biotechnology and Biopharmaceutics, University of Bari, 70125 Bari, Italy.
Lucarelli G; Urology, Andrology and Kidney Transplantation Unit, Department of Emergency and Organ Transplantation, University of Bari, 70124 Bari, Italy.
Battaglia M; Urology, Andrology and Kidney Transplantation Unit, Department of Emergency and Organ Transplantation, University of Bari, 70124 Bari, Italy.
Svelto M; Department of Biosciences, Biotechnology and Biopharmaceutics, University of Bari, 70125 Bari, Italy.
Procino G; Department of Biosciences, Biotechnology and Biopharmaceutics, University of Bari, 70125 Bari, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Jan 06; Vol. 24 (2). Date of Electronic Publication: 2023 Jan 06.
Typ publikacji:
Journal Article
MeSH Terms:
Diabetes Insipidus, Nephrogenic*/drug therapy
Diabetes Insipidus, Nephrogenic*/genetics
Diabetes Insipidus, Nephrogenic*/metabolism
Diabetes Mellitus*
Mice ; Animals ; Humans ; Aquaporin 2/genetics ; Aquaporin 2/metabolism ; Polyuria/drug therapy ; Adrenergic beta-Agonists
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Central Diabetes Insipidus in the Background of Lithium Use: Consider Central Causes Despite Nephrogenic as the Most Common.
Autorzy:
Li JJ; Department of Internal Medicine, California University of Science and Medicine, Colton, CA, USA.
Tan S; Department of Internal Medicine, California University of Science and Medicine, Colton, CA, USA.
Kawashita T; Department of Internal Medicine, Arrowhead Regional Medical Center, Colton, CA, USA.
Tagle CA; Department of Internal Medicine, Arrowhead Regional Medical Center, Colton, CA, USA.
Farmand F; Department of Internal Medicine, Arrowhead Regional Medical Center, Colton, CA, USA.
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Źródło:
The American journal of case reports [Am J Case Rep] 2023 Jan 23; Vol. 24, pp. e939034. Date of Electronic Publication: 2023 Jan 23.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Diabetes Insipidus, Neurogenic*/chemically induced
Diabetes Insipidus, Neurogenic*/diagnosis
Diabetes Insipidus, Neurogenic*/drug therapy
Diabetes Insipidus, Nephrogenic*/chemically induced
Diabetes Insipidus, Nephrogenic*/diagnosis
Hypernatremia*/chemically induced
Diabetes Mellitus*
Female ; Humans ; Adult ; Lithium ; Polyuria/chemically induced ; Polyuria/complications
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
New developments and concepts in the diagnosis and management of diabetes insipidus (AVP-deficiency and resistance).
Autorzy:
Angelousi A; First Department of Internal Medicine, Unit of Endocrinology, Laikon Hospital, Athens, Greece.
Alexandraki KI; Second Department of Surgery, Aretaieio Hospital Athens, Medical School, Athens, Greece.
Mytareli C; First Department of Internal Medicine, Unit of Endocrinology, Laikon Hospital, Athens, Greece.
Grossman AB; Green Templeton College, University of Oxford, Oxford, UK.; Centre for Endocrinology, Barts and the London School of Medicine, London, UK.; NET Unit, Royal Free Hospital, London, UK.
Kaltsas G; First Department of Propaedeutic Internal Medicine, Laikon Hospital, National & Kapodistrian University of Athens, Athens, Greece.
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Źródło:
Journal of neuroendocrinology [J Neuroendocrinol] 2023 Jan; Vol. 35 (1), pp. e13233. Date of Electronic Publication: 2023 Jan 22.
Typ publikacji:
Journal Article; Review; Research Support, Non-U.S. Gov't
MeSH Terms:
Diabetes Insipidus*/diagnosis
Diabetes Insipidus*/drug therapy
Diabetes Insipidus*/genetics
Diabetes Insipidus, Neurogenic*/diagnosis
Diabetes Insipidus, Neurogenic*/drug therapy
Diabetes Insipidus, Neurogenic*/genetics
Diabetes Insipidus, Nephrogenic*/diagnosis
Diabetes Insipidus, Nephrogenic*/genetics
Diabetes Insipidus, Nephrogenic*/therapy
Diabetes Mellitus*
Humans ; Aquaporin 2/genetics ; Receptors, Vasopressin/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Nephrogenic diabetes insipidus with new onset diabetic ketoacidosis in a child - challenges in fluid and electrolyte management.
Autorzy:
Tseng YS; Divisions of Critical Care Medicine and Nephrology, Department of Pediatrics, Children's Hospital of Michigan, Detroit, MI, USA. .; Central Michigan University School of Medicine, Mount Pleasant, MI, USA. .; Division of Critical Care, Department of Pediatrics, Carle Foundation Hospital, Urbana, IL, USA. .; Carle Illinois College of Medicine, Urbana, IL, USA. .
Swaney N; Divisions of Critical Care Medicine and Nephrology, Department of Pediatrics, Children's Hospital of Michigan, Detroit, MI, USA.; Central Michigan University School of Medicine, Mount Pleasant, MI, USA.
Cashen K; Duke Children's Hospital, Division of Critical Care Medicine, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.
Jain A; Divisions of Critical Care Medicine and Nephrology, Department of Pediatrics, Children's Hospital of Michigan, Detroit, MI, USA.; Central Michigan University School of Medicine, Mount Pleasant, MI, USA.
Ma N; Divisions of Critical Care Medicine and Nephrology, Department of Pediatrics, Children's Hospital of Michigan, Detroit, MI, USA.; Central Michigan University School of Medicine, Mount Pleasant, MI, USA.
Prout A; Divisions of Critical Care Medicine and Nephrology, Department of Pediatrics, Children's Hospital of Michigan, Detroit, MI, USA.; Central Michigan University School of Medicine, Mount Pleasant, MI, USA.
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Źródło:
Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2022 Sep; Vol. 37 (9), pp. 2209-2212. Date of Electronic Publication: 2022 Mar 14.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Diabetes Insipidus, Nephrogenic*/complications
Diabetes Insipidus, Nephrogenic*/diagnosis
Diabetes Insipidus, Nephrogenic*/therapy
Diabetes Mellitus*
Diabetic Ketoacidosis*/drug therapy
Diabetic Ketoacidosis*/therapy
Water-Electrolyte Imbalance*
Child ; Electrolytes ; Fluid Therapy ; Humans ; Insulin ; Male ; Sodium Chloride
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Gadolinium-Based Contrast Agents: Updates and Answers to Typical Questions Regarding Gadolinium Use.
Autorzy:
Cheong BYC; Department of Cardiology, Texas Heart Institute, Houston, Texas.; Department of Cardiovascular Radiology, Texas Heart Institute, Houston, Texas.
Wilson JM; Houston Methodist DeBakey Heart & Vascular Center, Houston, Texas.
Preventza OA; Division of Cardiothoracic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, Texas.; Department of Cardiovascular Surgery, Texas Heart Institute, Houston, Texas.
Muthupillai R; Department of Cardiovascular Radiology, Texas Heart Institute, Houston, Texas.; University of Houston College of Medicine, Houston, Texas.
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Źródło:
Texas Heart Institute journal [Tex Heart Inst J] 2022 May 01; Vol. 49 (3).
Typ publikacji:
Journal Article; Review
MeSH Terms:
Nephrogenic Fibrosing Dermopathy*/chemically induced
Nephrogenic Fibrosing Dermopathy*/diagnosis
Nephrogenic Fibrosing Dermopathy*/prevention & control
Renal Insufficiency*/complications
Contrast Media/adverse effects ; Gadolinium/adverse effects ; Humans ; Magnetic Resonance Imaging/methods
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Whole-exome sequencing and variant spectrum in children with suspected inherited renal tubular disorder: the East India Tubulopathy Gene Study.
Autorzy:
Sinha R; Institute of Child Health, Kolkata, India.; Apollo Hospital, Kolkata, India.
Pradhan S; SVPPGIP & SCB Medical College, Cuttack, India.
Banerjee S; Institute of Child Health, Kolkata, India.; Calcutta Medical and Research Institute, Kolkata, India.
Jahan A; Renowell Clinic and Pratiksha Hospital, Gauhati, India.
Akhtar S; Institute of Child Health, Kolkata, India.
Pahari A; Apollo Hospital, Kolkata, India.
Raut S; North Bengal Medical College, Darjeeling, India.
Parakh P; Neotia Getwel Healthcare Center, Siliguri, India.
Basu S; Institute of Child Health, Kolkata, India.
Srivastava P; Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Nayak S; SVPPGIP & SCB Medical College, Cuttack, India.
Thenral SG; Medgenome Labs Ltd, Bangalore, India.
Ramprasad V; Medgenome Labs Ltd, Bangalore, India.
Ashton E; Rare & Inherited Disease Laboratory, NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.
Bockenhauer D; UCL Department of Renal Medicine and Renal Unit, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.
Mandal K; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, 226014, India. .
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Źródło:
Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2022 Aug; Vol. 37 (8), pp. 1811-1836. Date of Electronic Publication: 2022 Jan 10.
Typ publikacji:
Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms:
Acidosis, Renal Tubular*/diagnosis
Acidosis, Renal Tubular*/genetics
Bartter Syndrome*/diagnosis
Bartter Syndrome*/genetics
Diabetes Insipidus, Nephrogenic*
Nephrocalcinosis*
Child ; Female ; Humans ; India/epidemiology ; Male ; Exome Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A Novel Missense Mutation of Arginine Vasopressin Receptor 2 in a Chinese Family with Congenital Nephrogenic Diabetes Insipidus: X-Chromosome Inactivation in Female CNDI Patients with Heterozygote 814A>G Mutation.
Autorzy:
Zang L; Department of Endocrinology, The First Medical Center of Chinese PLA General Hospital, Beijing 100853, China.
Gong Y; Department of Endocrinology, Jiangxi Pingxiang People's Hospital, Pingxiang 337055, China.
Li Y; Department of Endocrinology, The First Medical Center of Chinese PLA General Hospital, Beijing 100853, China.
Dou J; Department of Endocrinology, The First Medical Center of Chinese PLA General Hospital, Beijing 100853, China.
Lyu Z; Department of Endocrinology, The First Medical Center of Chinese PLA General Hospital, Beijing 100853, China.
Su X; Department of Endocrinology, Jiangxi Pingxiang People's Hospital, Pingxiang 337055, China.
Zhang Y; Department of Endocrinology, Jiangxi Pingxiang People's Hospital, Pingxiang 337055, China.
Mu Y; Department of Endocrinology, The First Medical Center of Chinese PLA General Hospital, Beijing 100853, China.
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Źródło:
BioMed research international [Biomed Res Int] 2022 Jul 12; Vol. 2022, pp. 7073158. Date of Electronic Publication: 2022 Jul 12 (Print Publication: 2022).
Typ publikacji:
Journal Article; Retracted Publication
MeSH Terms:
Diabetes Insipidus, Nephrogenic*/diagnosis
Diabetes Insipidus, Nephrogenic*/genetics
Diabetes Mellitus*/genetics
Receptors, Vasopressin*/genetics
Aquaporin 2/genetics ; China ; Chromosomes ; Female ; Heterozygote ; Humans ; Mutation, Missense ; Pedigree
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Pseudoxanthoma elasticum-like changes in longstanding gadolinium-naïve nephrogenic systemic fibrosis in a patient with chronic kidney disease.
Autorzy:
Das A; Department of Dermatology and Venereology, Government Medical College Trivandrum, Kerala, India.
Nair SP; Department of Dermatology and Venereology, Government Medical College Trivandrum, Kerala, India.
Kumar GN; Department of Pathology, Government Medical College Trivandrum, Kerala, India.
Mathew R; Department of Dermatology and Venereology, Government Medical College Trivandrum, Kerala, India.
Bindu RS; Department of Dermatology and Venereology, Government Medical College Trivandrum, Kerala, India.
Mathew R; Department of Dermatology and Venereology, Government Medical College Trivandrum, Kerala, India.
Gopinath DV; Department of Dermatology and Venereology, Government Medical College Trivandrum, Kerala, India.
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Źródło:
Indian journal of dermatology, venereology and leprology [Indian J Dermatol Venereol Leprol] 2022 May-Jun; Vol. 88 (3), pp. 401-403.
Typ publikacji:
Letter
MeSH Terms:
Nephrogenic Fibrosing Dermopathy*/chemically induced
Nephrogenic Fibrosing Dermopathy*/diagnosis
Pseudoxanthoma Elasticum*/complications
Pseudoxanthoma Elasticum*/diagnosis
Renal Insufficiency*
Renal Insufficiency, Chronic*/complications
Renal Insufficiency, Chronic*/diagnosis
Skin Diseases*
Fibrosis ; Gadolinium/adverse effects ; Humans
Opinia redakcyjna
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Updates and Perspectives on Aquaporin-2 and Water Balance Disorders.
Autorzy:
Noda Y; Department of Nephrology, Nitobe Memorial Nakano General Hospital, Tokyo 164-8607, Japan.; Department of Nephrology, Tokyo Medical and Dental University, Tokyo 113-8519, Japan.
Sasaki S; Department of Nephrology, Cellular and Structural Physiology Laboratory, Tokyo Medical and Dental University, Tokyo 113-8519, Japan.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Nov 30; Vol. 22 (23). Date of Electronic Publication: 2021 Nov 30.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Aquaporin 2/*metabolism
Body Water/*metabolism
Diabetes Insipidus, Nephrogenic/*metabolism
Animals ; Antidiuretic Hormone Receptor Antagonists/therapeutic use ; Calcium Signaling ; Cytoskeleton/metabolism ; Diabetes Insipidus, Nephrogenic/drug therapy ; Diabetes Insipidus, Nephrogenic/etiology ; Endocytosis ; Humans ; Kidney Tubules, Collecting/metabolism ; Loss of Function Mutation ; Molecular Targeted Therapy ; Osmolar Concentration ; Phosphorylation ; Protein Transport ; Receptors, Vasopressin/chemistry ; Receptors, Vasopressin/genetics ; Receptors, Vasopressin/metabolism ; Water-Electrolyte Balance
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Adipsic Diabetes Insipidus in Children: A Case Report and Practical Guide.
Autorzy:
AlShoomi AM; Department of Pediatric Endocrinology, King Fahad Medical City, Riyadh, Saudi Arabia.
Alkanhal KI; Department of Pediatric Endocrinology, King Fahad Medical City, Riyadh, Saudi Arabia.
Alsaheel AY; Department of Pediatric Endocrinology, King Fahad Medical City, Riyadh, Saudi Arabia.
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Źródło:
The American journal of case reports [Am J Case Rep] 2021 Dec 13; Vol. 22, pp. e934193. Date of Electronic Publication: 2021 Dec 13.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Diabetes Insipidus*/diagnosis
Diabetes Insipidus*/therapy
Diabetes Insipidus, Nephrogenic*
Diabetes Insipidus, Neurogenic*/diagnosis
Diabetes Insipidus, Neurogenic*/etiology
Diabetes Insipidus, Neurogenic*/therapy
Diabetes Mellitus*
Hypernatremia*
Child ; Child, Preschool ; Humans ; Male ; Thirst
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Congenital nephrogenic diabetes insipidus accompanied with central nephrogenic diabetes secondary to pituitary surgery -a case report.
Autorzy:
Zhang W; Department of Endocrinology, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, 310003, Zhejiang province, China.; Key Laboratory of Endocrine Gland Diseases of Zhejiang Province, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, 310003, Zhejiang province, China.
Shen Y; Department of Cardiology, The Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, 310009, Zhejiang province, China.
Ren Y; Department of Endocrinology, The Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, 310009, Zhejiang province, China.
Xin Y; Department of Endocrinology, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, 310003, Zhejiang province, China.; Key Laboratory of Endocrine Gland Diseases of Zhejiang Province, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, 310003, Zhejiang province, China.
Wang L; Department of Endocrinology, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, 310003, Zhejiang province, China. .; Key Laboratory of Endocrine Gland Diseases of Zhejiang Province, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, 310003, Zhejiang province, China. .
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Źródło:
BMC endocrine disorders [BMC Endocr Disord] 2021 Apr 21; Vol. 21 (1), pp. 78. Date of Electronic Publication: 2021 Apr 21.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Diabetes Insipidus, Nephrogenic/*congenital
Diabetes Insipidus, Neurogenic/*etiology
Neurosurgical Procedures/*adverse effects
Adenoma/complications ; Adenoma/surgery ; Adult ; China ; Diabetes Insipidus, Nephrogenic/complications ; Diabetes Insipidus, Nephrogenic/diagnosis ; Diabetes Insipidus, Nephrogenic/genetics ; Diabetes Insipidus, Neurogenic/diagnosis ; Female ; Humans ; Mutation, Missense ; Pituitary Apoplexy/diagnosis ; Pituitary Apoplexy/etiology ; Pituitary Neoplasms/complications ; Pituitary Neoplasms/surgery ; Receptors, Vasopressin/genetics ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A double-blind, randomized, placebo-controlled pilot trial of atorvastatin for nephrogenic diabetes insipidus in lithium users.
Autorzy:
Fotso Soh J; Geri-PARTy Research Group, Jewish General Hospital, Montreal, QC, Canada.; Douglas Mental Health University Institute, Montreal, QC, Canada.
Beaulieu S; Douglas Mental Health University Institute, Montreal, QC, Canada.
Trepiccione F; Division of Nephrology, University of Naples, Naples, Italy.
Linnaranta O; Douglas Mental Health University Institute, Montreal, QC, Canada.
Torres-Platas G; Geri-PARTy Research Group, Jewish General Hospital, Montreal, QC, Canada.
Platt RW; Department of Epidemiology, Biostatistics and Occupational Health, McGill University Health Centre, Montreal, QC, Canada.
Renaud S; Douglas Mental Health University Institute, Montreal, QC, Canada.
Su CL; Department of Epidemiology, Biostatistics and Occupational Health, McGill University Health Centre, Montreal, QC, Canada.
Mucsi I; Division of Nephrology, University Health Network, University of Toronto (UofT), Toronto, ON, Canada.
D'Apolito L; Biogem S.c.a.r.l., Istituto di Ricerche Genetiche 'Gaetano Salvatore', Ariano Irpino, Italy.
Mulsant BH; Department of Psychiatry, Centre for Addiction and Mental Health & Department of Psychiatry, University of Toronto, Toronto, ON, Canada.
Levinson A; Department of Psychiatry, Centre for Addiction and Mental Health & Department of Psychiatry, University of Toronto, Toronto, ON, Canada.
Saury S; Douglas Mental Health University Institute, Montreal, QC, Canada.
Müller D; Department of Psychiatry, Centre for Addiction and Mental Health & Department of Psychiatry, University of Toronto, Toronto, ON, Canada.
Schaffer A; Department of Psychiatry, Sunnybrook Research Institute, University of Toronto, Toronto, ON, Canada.
Dols A; Amsterdam UMC, Department of Psychiatry, GGZinGeest, Neuroscience, Amsterdam, The Netherlands.
Low N; Department of Psychiatry, McGill University Health Centre, Montreal, QC, Canada.
Cervantes P; Department of Psychiatry, McGill University Health Centre, Montreal, QC, Canada.
Christensen BM; Department of Biomedicine, University of Aarhus, Aarhus, Denmark.
Herrmann N; Department of Psychiatry, Sunnybrook Research Institute, University of Toronto, Toronto, ON, Canada.
Rajji T; Department of Psychiatry, Centre for Addiction and Mental Health & Department of Psychiatry, University of Toronto, Toronto, ON, Canada.
Rej S; Geri-PARTy Research Group, Jewish General Hospital, Montreal, QC, Canada.; Douglas Mental Health University Institute, Montreal, QC, Canada.
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Źródło:
Bipolar disorders [Bipolar Disord] 2021 Feb; Vol. 23 (1), pp. 66-75. Date of Electronic Publication: 2020 Jul 16.
Typ publikacji:
Journal Article; Randomized Controlled Trial; Research Support, Non-U.S. Gov't
MeSH Terms:
Bipolar Disorder*
Diabetes Insipidus, Nephrogenic*/chemically induced
Diabetes Insipidus, Nephrogenic*/drug therapy
Diabetes Mellitus*
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Atorvastatin ; Humans ; Lithium ; Middle Aged ; Pilot Projects ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Acquired reactive perforating collagenosis in a patient with chronic renal failure and nephrogenic systemic fibrosis.
Autorzy:
Saenz Aguirre A; Dermatology Department, Araba University Hospital, Vitoria-Gasteiz, Spain.
Martínez-González MI; Dermatology Department, Araba University Hospital, Vitoria-Gasteiz, Spain.
García-Río I; Dermatology Department, Araba University Hospital, Vitoria-Gasteiz, Spain.
Caton Santaren B; Pathology Department, Araba University Hospital, Vitoria-Gasteiz, Spain.
González-Pérez R; Dermatology Department, Araba University Hospital, Vitoria-Gasteiz, Spain.
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Źródło:
The Australasian journal of dermatology [Australas J Dermatol] 2021 Feb; Vol. 62 (1), pp. e141-e142. Date of Electronic Publication: 2020 Aug 18.
Typ publikacji:
Case Reports; Letter
MeSH Terms:
Kidney Failure, Chronic/*complications
Nephrogenic Fibrosing Dermopathy/*diagnosis
Nephrogenic Fibrosing Dermopathy/*pathology
Adult ; Female ; Humans ; Kidney Failure, Chronic/pathology ; Nephrogenic Fibrosing Dermopathy/etiology ; Renal Dialysis/adverse effects
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 1-20 z 3249

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