keyword
https://read.qxmd.com/read/38019190/clinical-factors-affecting-daily-dosage-of-desmopressin-orally-disintegrating-tablets-in-arginine-vasopressin-deficiency
#21
JOURNAL ARTICLE
Yoshitomo Hoshino, Kosuke Inoue, Sara Ikeda, Yukiko Goshima, Keita Tatsushima, Noriaki Fukuhara, Mitsuo Okada, Hiroshi Nishioka, Shozo Yamada, Yasuhiro Takeuchi, Akira Takeshita
BACKGROUND: Desmopressin orally disintegrating tablets (ODTs) are widely used to treat arginine vasopressin deficiency (AVP-D). However, limited information is available on the dosage regimen; the dosage for each patient is selected based on their response to the initiation dose. OBJECTIVE: To investigate the relationships between clinical characteristics and the daily dose of ODTs and to identify factors that affect ODT dosages. METHODS: This retrospective study included 209 adult patients with AVP-D...
November 29, 2023: Journal of Clinical Endocrinology and Metabolism
https://read.qxmd.com/read/37988666/assessment-of-quality-of-life-in-patients-with-craniopharyngioma-and-identification-of-risk-factors-for-compromised-overall-wellness
#22
JOURNAL ARTICLE
Ben Lin, Shiyuan Xiang, Jiajun Chen, Yu Jing, Zhao Ye, Yichao Zhang, Xiaoyun Cao, Zhiwen Yin, Nidan Qiao, Xiang Zhou
OBJECTIVE: Quality of Life (QoL) has been a multifactorial concerning issue in oncology. We aimed to inspect the pre-operative QoL among patients with craniopharyngioma and to explore the potential correlations between parameters of QoL and clinical indices. SUBJECTS AND METHODS: We enrolled a total of 109 patients with craniopharyngioma. We utilized Short Form 36 (SF-36), Symptom Check List-90, Generalized Anxiety Disorder Questionnaire scale (GAD7), Patient Health Questionnaire Depression (PHQ9) and Pittsburgh Sleep Quality Index to prospectively evaluated their QoL...
November 17, 2023: Archives of Endocrinology and Metabolism
https://read.qxmd.com/read/37986296/glucocorticoid-impact-therapy-for-recurrent-igg4-related-disease-with-diabetes-insipidus-as-the-main-manifestation-a-case-report-and-literature-review
#23
REVIEW
Yongzhuo Yu, Lili Xu, Yunyang Wang, Wenxuan Li, Yangang Wang
RATIONALE: There is a relative wealth of experience in the initial treatment of IgG4-related disease (IgG4-RD), but little is known about therapeutic measures for recurrent cases combined with multiple organ and tissue involvement. PATIENT CONCERNS: A 43-year-old man with a previous diagnosis of IgG4-RD due to recurrent right lacrimal gland enlargement with eyelid erythema presented with diabetes insipidus. DIAGNOSES: We performed a pituitary Magnetic Resonance Imaging which revealed posterior pituitary rim changes with inhomogeneous enhancement and nodular-like thickening of the pituitary stalk, and performed a water-deprivation-vasopressin test confirmed central diabetes insipidus, and in combination with the patient's elevated IgG4 levels and past medical conditions, we diagnosed central diabetes insipidus, IgG4-related hypophysitis, and IgG4-RD...
November 17, 2023: Medicine (Baltimore)
https://read.qxmd.com/read/37968847/hyperintensity-in-bilateral-posterior-limbs-of-internal-capsule-due-to-hypernatremia
#24
JOURNAL ARTICLE
Min-Yang Wu, Yuan-Ting Sun
PURPOSE: Osmotic demyelination syndrome is usually caused by rapid correction of hyponatremia but sometimes develops from acute severe hypernatremia. Studies suggested that serum sodium increasing at the rate of less than 6~8 mmol/L in 24 hours has a low risk of osmotic demyelination syndrome, but sometimes exceptions present. Aside from the classical sites of involvement, such as pons and basal ganglia, internal capsules are rarely affected. We report a case with acute paraparesis caused by acute hypernatremia-induced extrapontine myelinolysis involving the posterior limbs of bilateral internal capsules...
September 30, 2024: Acta Neurologica Taiwanica
https://read.qxmd.com/read/37966309/the-relationship-between-manifestation-of-diabetes-insipidus-and-estimated-glomerular-filtration-rate-in-brain-death
#25
JOURNAL ARTICLE
Panayiotis N Varelas, Mohammed Kananeh, Paul Brady, Devin Holden, Chandan Mehta, Ashar Ata, Tamer Abdelhak, David Greer, Mohammed Rehman
OBJECTIVES: Systematic reviews have revealed that up to 50% of patients with brain death have residual hypothalamic/pituitary activity based on the absence of central diabetes insipidus (DI). We hypothesized that different degrees of renal dysfunction may impact the presence of DI in patients with brain death. DESIGN: Single-center prospective data collection. SETTING: ICUs in a tertiary academic hospital. PATIENTS: All adult patients declared brain dead over 12 years...
February 1, 2024: Critical Care Medicine
https://read.qxmd.com/read/37927661/wolfram-syndrome-a-curious-case-of-repetitive-loss-of-consciousness
#26
Margarida M Carvalho, Rafael Jesus, Ana Mendes, Pedro Guimarães, Bebiana Conde
Wolfram syndrome is a rare, multisystemic, progressive, and autosomal-recessive genetic disease, characterized by diabetes mellitus and diabetes insipidus, optic nerve atrophy, deafness, and other neurological signs. The diagnosis is usually based on history and clinical manifestations but genetic tests are necessary for confirmation. Currently, there are no treatments available to cure or delay disease progression. This report describes a case of a 23-year-old male diagnosed with Wolfram syndrome who presented to the emergency department with several episodes of loss of consciousness...
October 2023: Curēus
https://read.qxmd.com/read/37908572/herpes-simplex-virus-diencephalitis-leading-to-panhypopituitarism
#27
Caoimhe Casey, Antoinette O'Connor, Simon Cronin, Antoinette Tuthill
Herpes simplex virus (HSV) is one of the most common causes of viral encephalitis. Hypothalamic-pituitary dysfunction has rarely been reported in HSV encephalitis, with few reports into the longer term outcomes for these patients. A 46-year-old male presented with a 10-day history of delirium, fever, and polydipsia. Initial computed tomography of the brain and cerebrospinal fluid cell counts were normal. Magnetic resonance imaging showed T2-hyperintensity affecting bilateral infundibuli, hypothalami, subthalamic nuclei, and optic radiations...
May 2023: JCEM Case Rep
https://read.qxmd.com/read/37908468/a-case-of-lymphocytic-infundibulo-neurohypophysitis-exhibiting-spontaneous-regression
#28
Masashi Hasebe, Kimitaka Shibue, Sachiko Honjo, Akihiro Hamasaki
Lymphocytic infundibulo-neurohypophysitis (LINH) is a rare autoimmune inflammatory process that selectively affects the neurohypophysis and the pituitary stalk, typically presenting with central diabetes insipidus (CDI). LINH is considered underdiagnosed because the definitive diagnosis requires invasive pituitary surgery with a high risk of complications. We present a case of CDI resulting from LINH, which was treated with conservative management, eschewing both glucocorticoid treatment and pituitary surgery...
March 2023: JCEM Case Rep
https://read.qxmd.com/read/37908458/erdheim-chester-disease-with-braf-v600e-mutation-and-central-diabetes-insipidus-successfully-treated-with-glucocorticoid
#29
Toshinori Imaizumi, Hisashi Daido, Takehiro Kato, Daisuke Yabe
Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis characterized by xanthoma/xanthogranuloma infiltration in various organs and a broad spectrum of clinical presentations, including bone lesions, central diabetes insipidus and renal failure. BRAF V600E mutation is seen in almost half of the cases of ECD; the BRAF inhibitor vemurafenib is recommended treatment in the United States and the European Union. However, the indication for vemurafenib in Japan is limited to unresectable malignant melanoma with BRAF mutation...
March 2023: JCEM Case Rep
https://read.qxmd.com/read/37908243/diagnosis-and-treatment-of-hereditary-central-diabetes-insipidus-in-a-swiss-family-with-a-mutation-in-the-avp-gene
#30
Lorena Wyniger, Nicole Beuret, Jonas Rutishauser, Eleonora Seelig
Hereditary central diabetes insipidus (CDI) is a genetic disorder characterized by polydipsia and polyuria. Most known mutations are located in the arginine-vasopressin ( AVP ) gene. Here, we describe a Swiss family with an autosomal dominant mutation in the AVP gene region encoding for the carrier protein neurophysin II (P55R). In addition, we discuss the algorithm for diagnosing and treating patients with hereditary CDI based on this Swiss family.
January 2023: JCEM Case Rep
https://read.qxmd.com/read/37908241/waterhouse-friderichsen-syndrome-and-central-diabetes-insipidus-due-to-escherichia-coli-meningitis
#31
Shinsuke Mizuno, Koji Yokoyama, Takayuki Nukada, Shigeto Hara
Waterhouse-Friderichsen syndrome and central diabetes insipidus are uncommon but potentially fatal endocrine and metabolic diseases. Waterhouse-Friderichsen syndrome is defined as adrenal insufficiency caused by adrenal hemorrhage, which is typically bilateral and most frequently due to meningococcal infection. It is usually diagnosed by necropsy. Central diabetes insipidus in children is often caused by trauma, intracranial lesions, autoimmune diseases, and infections. In addition, it can be caused by mutations in the AVP-NPII gene, although this occurs typically later in childhood rather than in the neonatal period...
January 2023: JCEM Case Rep
https://read.qxmd.com/read/37900924/three-pediatric-patients-with-congenital-nephrogenic-diabetes-insipidus-due-to-avpr2-nonsense-mutations-and-different-clinical-manifestations-a-case-report
#32
Hijiri Watanabe, Hiroshi Tamura, Keishiro Furuie, Shohei Kuraoka, Hitoshi Nakazato
Congenital nephrogenic diabetes insipidus (CNDI), a rare hereditary disorder, is characterized by the inability of the kidneys to concentrate urine in response to the antidiuretic hormone arginine vasopressin (AVP); as a result, large volumes of unconcentrated urine are excreted. In addition to the clinical manifestations of CNDI, such as dehydration and electrolyte disturbances (hypernatremia and hyperchloremia), developmental delay can result without prompt treatment. In approximately 90% of cases, CNDI is an X-linked disease caused by mutations in the arginine vasopressin receptor 2 ( AVPR2 ) gene...
2023: Case Reports in Nephrology and Dialysis
https://read.qxmd.com/read/37900440/a-case-of-central-diabetes-insipidus-in-a-patient-with-a-pineal-mass-suspected-to-be-a-germinoma-a-case-report
#33
Akbar Hussain, Mythili Kanthi Gudipati, Edilfavia Uy, Jonathan Piercy, Shyam Ganti
Central diabetes insipidus (CDI) is a rare condition characterized by excessive urination and thirst due to vasopressin deficiency. The underlying cause of CDI remains unknown in many cases. Tumors are a leading cause of CDI in young individuals, with germinoma being the most prevalent. We present a case of a 22-year-old male diagnosed with infundibuloneurohypophysitis (INH) of unknown etiology. His pituitary stalk thickening partially responded to high-dose prednisone treatment; however, one year after initial diagnosis, a new pineal region mass was noted on imaging...
September 2023: Curēus
https://read.qxmd.com/read/37886631/intracranial-germinoma-combined-with-parathyroid-adenoma-in-a-male-pediatric-patient-a-case-report
#34
Tingting Zhang, Chuanjie Yuan, Juanjuan Lv, Ying Liu, Jin Wu
Cases of young patients combined with intracranial germinoma and parathyroid adenoma are extremely rare. A 6.25-year-old boy was diagnosed with growth hormone deficiency at his first visit and was then treated with growth hormone substitution. Later, he was clinically diagnosed with central diabetes insipidus (CDI) and primary hyperparathyroidism, whereas no abnormal imaging evidence was identified, except for a thickened pituitary stalk. Due to persistent follow-up, parathyroid adenoma and intracranial germinoma were verified in succession...
2023: SAGE Open Medical Case Reports
https://read.qxmd.com/read/37879354/desmopressin-dose-requirements-in-adults-with-congenital-and-acquired-central-diabetes-insipidus
#35
JOURNAL ARTICLE
Aslak Nykjær Pedersen, Jesper Krogh, Mikkel Andreassen, Aase Krogh Rasmussen
Central diabetes insipidus is a rare disorder characterized by a deficiency of vasopressin. The first line drug to treat this disorder is a synthetic analog of vasopressin, desmopressin.The primary aim of this retrospective register study was to compare desmopressin dose requirements in patients with acquired and congenital DI, and secondly to assess the influence of BMI on dose requirement and risk of hyponatremia with different drug administrations. We included all patients with suspected DI attending the endocrine department at Rigshospitalet, Copenhagen, Denmark in 2022...
October 25, 2023: Hormone and Metabolic Research
https://read.qxmd.com/read/37798950/central-diabetes-insipidus-in-children-as-a-diagnostic-challenge
#36
JOURNAL ARTICLE
Kamil Dyrka, Lukasz Dzialach, Marek Niedziela, Katarzyna Jonczyk-Potoczna, Katarzyna Derwich, Monika Obara-Moszynska
Central diabetes insipidus (CDI) is a disorder in the pediatric population resulting from antidiuretic hormone deficiency. The excessive production of dilute urine characterizes it and manifests with polyuria, nocturia, and polydipsia. The diagnostics of CDI is often challenging, especially concerning the underlying condition of the disease. This article highlights the diverse clinical presentation of children with CDI and diagnostic difficulties among patients with polyuria and polydipsia. The article also reviews the etiology, symptoms, diagnostic workup, and management of CDI...
October 5, 2023: Clinical Pediatrics
https://read.qxmd.com/read/37779166/clinical-and-therapeutic-outcomes-of-pediatric-pituitary-adenomas-a-single-pituitary-center-experience
#37
JOURNAL ARTICLE
Fatih Kilci, Jeremy Huw Jones, Melih Çaklılı, Savaş Ceylan, Filiz Mine Çizmecioğlu-Jones
PURPOSE: Pediatric pituitary adenomas (PPA) are rare. Although PPAs are mostly benign, they can be challenging to manage. Most studies evaluating PPA are based on surgical series. We aimed to present the clinical features, hormonal status and treatment outcomes of children with PPA managed in a joint neuroendocrine setting. METHODS: In this single-center study, demographic, clinical and endocrinological data of patients under 19 years old who were followed up with the diagnosis of PPA between 2002-2022 were retrospectively reviewed...
October 2, 2023: Endocrine
https://read.qxmd.com/read/37759745/genomics-of-wolfram-syndrome-1-wfs1
#38
REVIEW
Sulev Kõks
Wolfram Syndrome (WFS) is a rare, autosomal, recessive neurogenetic disorder that affects many organ systems. It is characterised by diabetes insipidus, diabetes mellites, optic atrophy, and deafness and, therefore, is also known as DIDMOAD. Nearly 15,000-30,000 people are affected by WFS worldwide, and, on average, patients suffering from WFS die at 30 years of age, usually from central respiratory failure caused by massive brain atrophy. The more prevalent of the two kinds of WFS is WFS1, which is a monogenic disease and caused by the loss of the WFS1 gene, whereas WFS2, which is more uncommon, is caused by mutations in the CISD2 gene...
September 4, 2023: Biomolecules
https://read.qxmd.com/read/37746393/central-diabetes-insipidus-an-acute-manifestation-of-covid-19-infection
#39
Sharanya Suresh Kumar, Kiran Kumar, Sneha Venkataramani, Naail Mohammed Ghazi
In recent years, there has been a rise in the number of COVID-19 cases and its complications. Central diabetes insipidus (central DI) is a rare but treatable manifestation of acute COVID-19 infection. This case reports the rapid onset of central DI in a 35-year-old male in less than two weeks post-COVID-19 infection. He made a complete recovery post-administration of desmopressin within one month. Prompt diagnosis, treatment, and periodic follow-up are hence the cornerstones of a successful recovery for a patient with central DI post-COVID-19 infection...
August 2023: Curēus
https://read.qxmd.com/read/37743662/lymphocytic-infundibuloneurohypophysitis-diagnosis-owing-to-positive-anti-rabphilin-3a-antibody-test-result-in-an-8-year-old-boy-with-early-onset-central-diabetes-%C3%A4-nsipidus
#40
JOURNAL ARTICLE
Yukino Shoji, Yuki Naruse, Naoko Iwata, Haruki Fujisawa, Atsushi Suzuki, Yoshihisa Sugimura, Masato Mori, Ryugo Hiramoto
Childhood-onset lymphocytic infundibuloneurohypophysitis (LINH) has rarely been reported. Pathological evaluation via pituitary biopsy is necessary for a definitive diagnosis of LINH. However, pituitary biopsy is a highly invasive procedure. Recently, anti-rabphilin-3A antibody (RPH3A-Ab) has been reported as a promising diagnostic marker for LINH in adults; however, there are few such reports in the pediatric population. We report the case of an 8-year-old boy with central diabetes insipidus (CDI) who was clinically diagnosed with LINH based on RPH3A-Ab positivity...
September 25, 2023: Journal of Clinical Research in Pediatric Endocrinology
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