keyword
https://read.qxmd.com/read/38681476/pseudohypoaldosteronism-type-1b-and-cohen-syndrome-novel-mutation-unusual-combination-and-presentation
#1
Yassin Alsaleh, Hussain A Al Ghadeer, Aida Aljabri, Zahra Alhashim, Moneera Mohamed, Fadi Busaleh, Fatimah A Alramadhan, Manal M Alghazal
Pseudohypoaldosteronism type 1 (PHA1) is a rare inherited disorder of resistance to aldosterone and presents with hyponatremia, hyperkalemia, and metabolic acidosis. Cohen syndrome (CS) is another rare inherited disease. Concurrent presentation with pseudohypoaldosteronism makes it so extraordinary and implies more challenges for clinicians. We report a case of a female with Cohen syndrome (novel mutation) and systemic pseudohypoaldosteronism, as well as the challenges we have encountered in the management of this patient...
March 2024: Curēus
https://read.qxmd.com/read/38680823/infantile-status-epilepticus-a-case-of-excessive-water-intake-in-a-five-month-old-girl
#2
Abeer Alshaikh, Abdulrahman A Aldoseri, Raafat Hammad Seroor Jadah
Hyponatremia in children, especially in normal infants below the age of six months, is a common cause of the first onset of afebrile convulsions, which can be rarely associated with water intoxication and can lead to a state of encephalopathy and status epilepticus if not diagnosed and managed properly early. Water intoxication is an uncommon but potentially lethal cause of hyponatremia. We report a five-month-old girl who presented to our hospital with status epilepticus, facial puffiness, cyanosis, and severe hyponatremia secondary to water intoxication...
April 2024: Curēus
https://read.qxmd.com/read/38654937/rhinovirus-infection-presenting-with-symptomatic-hyponatremia-atypical-presentation-of-a-common-infection
#3
Koutaibah Obaid, Mohamad Talal Basrak, Bisher Sawaf, Hiba Habib, Mohammed Alkhatib, Anas A Ashour, Mhd Baraa Habib
KEY CLINICAL MESSAGE: Rhinovirus infection has the potential to exhibit unconventional symptoms like symptomatic hyponatremia. Health care professionals should remain vigilant about this potential complication, especially in cases with uncommon presentations. Timely identification and effective management of hyponatremia can mitigate potential complications and enhance patient prognosis. ABSTRACT: The syndrome of inappropriate secretion of antidiuretic hormone (SIADH) is a prominent contributor to low sodium levels...
April 2024: Clinical Case Reports
https://read.qxmd.com/read/38644058/excessive-pickle-consumption-beware-of-adrenal-crisis
#4
JOURNAL ARTICLE
Bellaure Ndoudi-Likoho, Dominique Simon, Arielle Maroni, Stéphane Dauger, Michael Levy
Adrenal insufficiency (AI) is one of the most life-threatening disorders resulting from adrenal cortex dysfunction. Symptoms and signs of AI are often nonspecific, and the diagnosis can be missed and lead to the development of AI with severe hypotension and hypovolemic shock. We report the case of a 13-year-old child admitted for cardiac arrest following severe hypovolemic shock. The patient initially presented with isolated mild abdominal pain and vomiting together with unexplained hyponatremia. He was discharged after an initial short hospitalization with rehydration but with persistent hyponatremia...
April 20, 2024: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://read.qxmd.com/read/38616722/long-term-safety-of-desmopressin-orally-disintegrating-tablets-in-men-with-nocturia-due-to-nocturnal-polyuria-interim-results-of-a-specified-drug-use-results-survey-in-japan
#5
JOURNAL ARTICLE
Yoshimasa Ogawa, Shujiro Murata, Kiyotoshi Kuramoto, Atsushi Nakano
OBJECTIVES: This interim report presents the 12-week results of a post-marketing surveillance evaluating the safety of desmopressin orally disintegrating tablets 25 and 50 μg in Japanese men with nocturia due to nocturnal polyuria. METHODS: Of the planned study population of 1000 Japanese men receiving desmopressin for the first time for nocturia due to nocturnal polyuria, 971 cases were enrolled. In this interim analysis, 9 cases, including 6 registry violations and 3 cases of unconfirmed desmopressin dosing, were excluded from the 354 case report forms collected and fixed by the end of December 2021, and data up to 12 weeks after administration in 345 cases were defined as the safety analysis set...
May 2024: Lower Urinary Tract Symptoms
https://read.qxmd.com/read/38595258/-afferent-baroreflex-failure-with-hyponatremia-a-case-report
#6
JOURNAL ARTICLE
Shengjia Peng, Yu Qi, Lijie Sun, Dan Li, Xinyu Wang, Jiangli Han, Baoxia Chen, Yuan Zhang
Afferent baroreflex failure (ABF) is a rare disease. It refers to the clinical syndrome caused by the impairment of the afferent limb of the baroreflex or its central connections at the level of the medulla. The recognized causes include trauma, surgery in related areas (radical neck tumor surgery, carotid endarterectomy), neck radiotherapy, brain stem stroke, tumor growth paraganglioma and hereditary diseases, among which the most common cause is extensive neck surgery or radiotherapy for neck cancer. The main manifestations are fluctuating hypertension, orthostatic hypotension, paroxysmal tachycardia and bradycardia...
April 18, 2024: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://read.qxmd.com/read/38588007/vortioxetine-induced-syndrome-of-inappropriate-secretion-of-antidiuretic-hormone-a-case-report
#7
Taro Sasaki, Yunosuke Shindo, Kota Kikuchi, Yasushi Kawamata, Norio Sugawara, Norio Yasui-Furukori
BACKGROUND: Vortioxetine, known for its efficacy in treating depression through its effects on various neurotransmitters, has not been previously reported to induce syndrome of inappropriate secretion of antidiuretic hormone (SIADH). CASE PRESENTATION: This case report describes a 74-year-old man with major depressive disorder who developed SIADH 1 week after starting treatment with vortioxetine. SIADH is characterized by symptoms such as headache, nausea, disorientation, and seizures, stemming from hyponatremia (123 mEq/L), without dehydration or edema...
April 8, 2024: Neuropsychopharmacology Reports
https://read.qxmd.com/read/38562574/a-case-of-secondary-pseudohypoaldosteronism-that-presented-as-poor-weight-gain
#8
Keisuke Goshima, Hiroshi Tamura, Yuko Hidaka, Keishiro Furuie, Shohei Kuraoka
KEY CLINICAL MESSAGE: Pseudohypoaldosteronism (PHA) carries a good prognosis if treated early and appropriately, but some cases can have life-threatening events. We underscored the need to consider secondary PHA as one of the differential diagnoses of hyponatremia and hyperkalemia in infancy. ABSTRACT: Pseudohypoaldosteronism (PHA) type 1 has two classifications; the primary type, caused by genetic abnormalities that develop during neonatal and infancy periods, and the secondary type, caused by urinary tract malformation and urinary tract infection...
April 2024: Clinical Case Reports
https://read.qxmd.com/read/38552085/severe-hyponatremia-and-diabetes-insipidus-caused-by-low-dose-cyclophosphamide-in-breast-cancer-patients-a-case-report-and-literature-review
#9
JOURNAL ARTICLE
Yanfang Chen, Liye Li, Ruilian Ou, Yulan Wu, Baoying Pan, Linying Luo
RATIONALE: Cyclophosphamide (CTX) is widely used in the treatment of malignancies and autoimmune diseases. Although severe hyponatremia caused by low-dose CTX chemotherapy is uncommon, it can lead to serious complications and even death. PATIENT CONCERNS: A 44-year-old woman with left-sided breast cancer suddenly experienced headaches, disorientation and weakness after receiving low-dose neoadjuvant chemotherapy combined with CTX and doxorubicin. DIAGNOSES: The patient pathology showed invasive breast carcinoma...
March 29, 2024: Medicine (Baltimore)
https://read.qxmd.com/read/38550408/recurrent-lactobacillus-rhamnoses-bacteremia-and-complications-in-an-immunocompromised-patient-with-history-of-probiotic-use-a-case-report
#10
Ujunwa J Eze, Anthony Lal, Menatallah I Elkoush, Marta Halytska, Syed Atif
The use of probiotics has been on the rise in the past few years. Increasing reports on Lactobacillus bacteremia-associated morbidity and mortality in immunocompromised patients have raised safety concerns about its use in this group. We present a case of a 79-year-old patient with a history of probiotic use who was admitted from the emergency department for acute-on-chronic diarrhea, acute hyponatremia, acute-on-chronic diastolic heart failure, and ambulatory dysfunction. His multiple co-morbidities include stage III chronic kidney disease, type II diabetes mellitus, chronic diastolic heart failure, Parkinson's disease, essential hypertension, atrial fibrillation, status post pacemaker placement, and status post bioprosthetic aortic valve replacement...
February 2024: Curēus
https://read.qxmd.com/read/38540409/leukodystrophy-with-macrocephaly-refractory-epilepsy-and-severe-hyponatremia-the-neonatal-type-of-alexander-disease
#11
Justyna Paprocka, Magdalena Nowak, Magdalena Machnikowska-Sokołowska, Karolina Rutkowska, Rafał Płoski
INTRODUCTION: Alexander disease (AxD) is a rare neurodegenerative condition that represents the group of leukodystrophies. The disease is caused by GFAP mutation. Symptoms usually occur in the infantile age with macrocephaly, developmental deterioration, progressive quadriparesis, and seizures as the most characteristic features. In this case report, we provide a detailed clinical description of the neonatal type of AxD. METHOD: Next-Generation Sequencing (NGS), including a panel of 49 genes related to Early Infantile Epileptic Encephalopathy (EIEE), was carried out, and then Whole Exome Sequencing (WES) was performed on the proband's DNA extracted from blood...
March 11, 2024: Genes
https://read.qxmd.com/read/38524089/bradycardia-renal-failure-atrioventricular-block-shock-and-hyperkalemia-brash-syndrome-emergence-in-a-unique-intersection-of-covid-19-and-end-stage-renal-disease-a-case-report
#12
Tutul Chowdhury, Sindhu C Pokhriyal, Uma Gupta, Kalendra Kunwar, Kiran Hashmi, Sauraj Devkota, Morris Kopyt, Andleeb Sherazi
Bradycardia, renal failure, atrioventricular (AV) block, shock, and hyperkalemia (BRASH) syndrome is a rare clinical entity that poses challenges for healthcare practitioners. It is characterized by bradycardia, renal failure, atrioventricular (AV) obstruction, shock, and hyperkalemia. This case is an interesting instance of BRASH syndrome in the setting of COVID-19 infection and end-stage renal disease (ESRD). Initial laboratory results revealed macrocytic anemia, renal dysfunction, acidosis, and mild hyponatremia, along with hyperkalemia...
February 2024: Curēus
https://read.qxmd.com/read/38523545/dopaminergic-drugs-and-valproate-associated-refractory-hyponatremia-over-levosulpiride-induced-parkinsonism-in-an-elderly-female-patient-when-deprescribing-was-the-only-therapy
#13
JOURNAL ARTICLE
Amol Dehade, Sankha Shubhra Chakrabarti, Not Taruni Srija Reddy, Upinder Kaur
INTRODUCTION: Prescribing cascade is a condition in which a drug administered to a patient causes an adverse reaction that is misinterpreted as a new condition, resulting in the addition of a new drug. CASE PRESENTATION: Here, we report the case of an elderly female patient who suffered from metabolic, neurologic, and urinary consequences of a prescribing cascade of antiemetic, antiepileptic, and dopaminergic drugs. While levosulpiride caused Parkinsonian symptoms, the dopaminergic drugs and valproate caused refractory hyponatremia followed by altered sensorium, and clidinium contributed to urinary retention...
March 20, 2024: Current Drug Safety
https://read.qxmd.com/read/38512218/merkel-cell-carcinoma-on-the-face-a-case-report
#14
JOURNAL ARTICLE
Shaikha Salah Alhaj, Fatma Abdulghaffar Qaderi, Tarek Ibrahim, Maha Almohammad
Background: Merkel cell carcinoma (MCC) is a rare primary neuroendocrine skin tumor that represents a flesh-colored or bluish-red nodule on the face, neck, or head. Long-term Ultraviolet (UV) radiation exposure and Merkel cell polyomavirus (MCV) are associated with Merkel cell carcinoma pathogenesis. We present a case of Merkel cell carcinoma in an 87-year-old male patient in the right cheek. Objective: The primary goal of presenting the case was to bring Merkel cell carcinoma, which is a diagnostic challenge, to the notice of dermatologists and oncologists, as early detection and prompt treatment are important...
March 17, 2024: JMIR dermatology
https://read.qxmd.com/read/38493321/nr3c2-microdeletions-an-underrecognized-cause-of-pseudohypoaldosteronism-type-1a-a-case-report-and-literature-review
#15
JOURNAL ARTICLE
Bobby L Boyanton, Yuri A Zarate, Brannon G Broadfoot, Thomas Kelly, Brendan D Crawford
OBJECTIVES: Pseudohypoaldosteronism type 1A (PHA1A) is caused by haploinsufficiency of the mineralocorticoid receptor (MR). Heterozygous small insertions/deletions, transitions, and/or transversions within NR3C2 comprise the majority (85%-90%) of pathogenic copy number variants. Structural chromosomal abnormalities, contiguous gene deletion syndromes, and microdeletions are infrequent. We describe a neonate with PHA1A due to a novel NR3C2 microdeletion involving exons 1-2. METHODS: Literature review identified 39 individuals with PHA1A due to NR3C2 microdeletions...
March 16, 2024: Laboratory Medicine
https://read.qxmd.com/read/38491538/a-case-report-of-drug-interaction-between-co-packaged-nirmatrelvir-ritonavir-and-tacrolimus-causing-hyponatremia-in-a-lung-transplant-recipient
#16
JOURNAL ARTICLE
Chien-Ming Lo, Wei-Hsun Chen, Meng-Yun Tsai, Hung-I Lu, Yu-Hsin Hsiao, Kai-Hao Chuang, Yu Chen, Hsuan-Feng Wu, Kuo-Tung Huang, Yi-Hsi Wang
BACKGROUND: Coronavirus disease 2019 (COVID-19) infection in lung transplant recipients can be lethal owing to the use of immunosuppressants. Antiviral agents may be administered to these patients. Co-packaged nirmatrelvir-ritonavir is a new agent currently being used in combination. CASE PRESENTATION: In this report, we present a case of a 64-year-old woman, a lung transplant recipient, who experienced hyponatremia and showed a high serum tacrolimus concentration following the administration of the co-packaged nirmatrelvir-ritonavir combination...
March 15, 2024: Journal of Cardiothoracic Surgery
https://read.qxmd.com/read/38483734/rhododendron-poisoning-in-alpacas-vicugna-pacos-in-northern-germany
#17
JOURNAL ARTICLE
Johannes Schregel, Isabel Zdora, Ingo Gerhauser, Teresa Maria Punsmann, Sabine Aboling, Martin Ganter, Matthias Gerhard Wagener
Poisoning is often suspected to be the origin of disease in South American camelids (SACs) by owners, but only in a few cases this assumption can be confirmed. In small ruminants, rhododendron poisoning is a common emergency for livestock veterinarians. However, this condition has rarely been reported in SACs so far. This paper provides information regarding clinical findings, hematology, clinical chemistry, and treatment of four alpacas after presumed intake of rhododendron leaves including pathological findings of one of the animals...
March 14, 2024: Veterinary Research Communications
https://read.qxmd.com/read/38482091/a-rare-presentation-of-erysipelothrix-rhusiopathiae-endocarditis-with-acute-heart-failure
#18
Maryam Barkhordarian, Mark Grijalva, James Liu, Muhammad Yasir, Abraham Lo
Erysipelothrix rhusiopathiae is an occupation-related infection that can be found in farm animals or marine life. This infection can present with a spectrum of infection ranging from local cellulitis to aortic endocarditis. Developing endocarditis is rare from this organism with only a few case reports in the literature. We presented a case of E. rhusiopathiae bacteremia that led to aortic valve endocarditis with a Gerbode defect within the mitral valve complicated with an acute exacerbation of congestive heart failure, necessitating emergent valve replacement surgery, with eventual permanent pacemaker due to complete heart block...
2024: Journal of Community Hospital Internal Medicine Perspectives
https://read.qxmd.com/read/38471800/an-autopsy-proven-case-based-review-of-autoimmune-encephalitis
#19
REVIEW
Yu-Mi Shim, Seong-Ik Kim, So Dug Lim, Kwanghoon Lee, Eric Eunshik Kim, Jae Kyung Won, Sung-Hye Park
Autoimmune encephalitis (AIE) is a type of immunoreactive encephalitic disorder and is recognized as the most prevalent noninfectious encephalitis. Nevertheless, the rarity of definitive AIE diagnosis through biopsy or autopsy represents a significant hurdle to understanding and managing the disease. In this article, we present the pathological findings of AIE and review the literature based on a distinct case of AIE presenting as CD8+ T-lymphocyte predominant encephalitis. We describe the clinical progression, diagnostic imaging, laboratory data, and autopsy findings of an 80-year-old deceased male patient...
February 29, 2024: Experimental Neurobiology
https://read.qxmd.com/read/38468417/treatment-of-severe-hyponatremia-with-continuous-renal-replacement-therapy-a-case-and-review-of-corrective-strategies
#20
Paul J Der Mesropian, Shawn Phillips, Martha Naber, Sunjeev Konduru, Gulvahid Shaikh, Krishnakumar Hongalgi
Treatment of severely hyponatremic patients with continuous renal replacement therapy (CRRT) presents a unique challenge given the lack of commercial options for hypotonic replacement solutions or dialysate. We report the case of a 55-year-old male who presented with profound, symptomatic hyponatremia in the setting of acute kidney injury (AKI). The patient was found to have a serum sodium concentration of 97 mEq/L because of free water retention that occurred during severe AKI from viral gastroenteritis and rhabdomyolysis...
March 11, 2024: Hemodialysis International
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