Biomedicine hub最新文献

{"title":"Postmortem Inductively Coupled Plasma Mass Spectrometry Analysis Reveals Elevated Heavy Metal Concentrations in Coronary Arteries: A Comparative Autopsy Study Supporting a Toxic Inflammatory Hypothesis for Atherosclerosis.","authors":"Onur Yolay, Emine Esra Kasapbasi, Erdem Tezcan, Ceyhun Kucuk, Hasan Karaoglu, Emir Canturk, Bekir Inan, Dogac Oksen, Ozge Cetinarslan, Fadil Umihanić, Serdar Baki Albayrak, Ayhan Olcay","doi":"10.1159/000546499","DOIUrl":"10.1159/000546499","url":null,"abstract":"<p><strong>Introduction: </strong>A large number of studies have been carried out for the etiology of atherosclerosis and many risk factors have been identified, including environmental factors and heavy metals, which are related to the pathogenesis. This study aimed to determine the effects of heavy metals, which have activation and inhibition effects on various metabolic pathways, on atherosclerosis by examining coronary arteries obtained from autopsy series.</p><p><strong>Methods: </strong>Coronary arteries of 28 autopsy cases were analyzed by inductively coupled plasma mass spectrometry method. Sixteen of the cases had coronary atherosclerotic plaques and 12 of the coronaries were normal. Twenty trace metal concentrations were examined from the samples obtained.</p><p><strong>Results: </strong>Twenty-eight coronary artery samples (16 with atherosclerosis, 12 normal) were analyzed using ICP-MS. Levels of Mg, K, Ca, P, Fe, Zn, Al, S, As, Pt, Sb, Hg were significantly higher in atherosclerotic arteries (e.g., Ca: 51,384 vs. 1,723 ppm, <i>p</i> = 0.005; P: 30,791 vs. 3,443 ppm, <i>p</i> = 0.003; Hg: 3.2 vs. 0 ppm, <i>p</i> < 0.001). Elements such as lead, cobalt, and cadmium remained below detection limits in both groups.</p><p><strong>Conclusion: </strong>Heavy metals through inflammation, oxidative stress, and disrupted antioxidant pathways are independent risk factors that increase the risk of atherosclerosis. These findings provide tissue-level evidence that heavy metal accumulation may contribute to atherosclerosis through oxidative stress, inflammation, and disruption of antioxidant defenses.</p>","PeriodicalId":101351,"journal":{"name":"Biomedicine hub","volume":"10 1","pages":"124-133"},"PeriodicalIF":0.0,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12173441/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144319127","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Adverse Cutaneous Reactions to Monoclonal Antibodies: Stevens-Johnson Syndrome, Toxic Epidermal Necrolysis, Erythema Multiforme, and Fixed Drug Eruption - A Systematic Review.","authors":"Kenan Kherallah, Imran Ahmad, Anishka Bandara, Jacob Kattoula, Ivan Rodriguez, Scott Worswick","doi":"10.1159/000545623","DOIUrl":"10.1159/000545623","url":null,"abstract":"<p><strong>Introduction: </strong>The therapeutic use of monoclonal antibodies (mAbs) has significantly increased since the first mAb was introduced. Despite their therapeutic benefits, mAbs have been accompanied by a rise in adverse effects, affecting various organ systems including the skin. This systematic review consolidates the current literature on the incidence, characteristics, and management of adverse dermatological events (ADEs) post-mAb treatment, focusing on Stevens-Johnson syndrome (SJS), toxic epidermal necrolysis (TEN), erythema multiforme (EM), and fixed drug eruption (FDE).</p><p><strong>Methods: </strong>A comprehensive PubMed search from 1980 to January 2024 included studies on mAbs causing SJS, TEN, EM, or FDE in humans. Screening was conducted using Covidence, and data were extracted on demographics, mAb details, rash characteristics, and treatment.</p><p><strong>Results: </strong>Of the initial 2002 articles, 29 met the inclusion criteria, highlighting 31 cases of ADEs. The onset of these rashes was delayed, often occurring significantly after starting mAb therapy, with a mean onset time considerably longer than that associated with traditional drugs. Additionally, neither patient sex nor concurrent medication use affected the likelihood of developing these reactions.</p><p><strong>Conclusion: </strong>This review underscores the prolonged timeline for the onset of ADEs from mAbs, distinct from reactions induced by traditional drugs, aligning with the characteristics of progressive immunotherapy-related mucocutaneous eruption. The lack of correlation with patient sex or concurrent medications reaffirms the inherent risk of mAbs. These findings highlight the need for clinicians to monitor and educate patients about the potential for delayed dermatological reactions from mAb treatment to ensure timely management and better outcomes.</p>","PeriodicalId":101351,"journal":{"name":"Biomedicine hub","volume":"10 1","pages":"105-115"},"PeriodicalIF":0.0,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12121980/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144183246","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Routine Use of Analgesia for Venipuncture in a Tertiary Level Neonatal Intensive Care Setting: A Quality Improvement Study.","authors":"Sonam Shah, Dwayne Mascarenhas, Medha Goyal, Santoshi Subadarshini, Ruchi Nimish Nanavati, Anitha Ananthan","doi":"10.1159/000545874","DOIUrl":"10.1159/000545874","url":null,"abstract":"<p><strong>Introduction: </strong>Neonatal exposure to pain can lead to altered pain perception in later years of life. Despite the availability of measures to alleviate pain, routine use is lacking. We decided to conduct a quality improvement (QI) study to increase the use of analgesia during venipuncture, a common procedure in neonatal intensive care units, from a baseline of 0% to 50% over 8 weeks.</p><p><strong>Methods: </strong>Fishbone analysis was used to identify the potential barriers, which were targeted to bring improvement through Plan-Do-Study-Action (PDSA) cycles. In the first cycle, education and training of healthcare providers were conducted for 3 weeks, followed by the second cycle, wherein the mother's own milk was made available bedside for analgesia use. In the third cycle, a small amount of pasteurized donor human milk was kept separately for analgesia, and 25% dextrose was made available in the fourth cycle as a last resort. The 2nd-4th PDSA cycles were performed for a period of 2 weeks each.</p><p><strong>Results: </strong>The use of analgesia improved to 26% from baseline after the first cycle and subsequently to 46%, 50%, and 53% after the second, third, and fourth cycles, respectively. During the sustenance phase, in the initial 2 months, there was a decrease in analgesia use, but with prompt interventions and timely remediation, it increased up to 60%, which was sustained for the subsequent 3 months.</p><p><strong>Conclusion: </strong>Using the QI model, we were able to identify lacunae in current care and drive a culture change, leading to an increase in the use of analgesia during venipuncture.</p>","PeriodicalId":101351,"journal":{"name":"Biomedicine hub","volume":"10 1","pages":"116-123"},"PeriodicalIF":0.0,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12173438/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144319128","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effects of Replacing Intradialytic Parenteral Nutrition by Oral Nutritional Supplements and Polyester-Polyarylate Membrane on Nutritional Status in Maintenance Hemodialysis Patients with End-Stage Kidney Disease.","authors":"Maxime Hoffmann, Amaury Ben Henda, Omar Mazouz, Rachid Amaria","doi":"10.1159/000545460","DOIUrl":"https://doi.org/10.1159/000545460","url":null,"abstract":"<p><strong>Introduction: </strong>In patients receiving hemodialysis, protein-energy wasting may be frequent and is associated with nutritional and metabolic alterations. This study aimed to describe the effects of a new therapeutic strategy, i.e., oral nutritional supplements (ONS) associated with a polyester-polyarylate (PEPA) membrane, on nutritional markers in high-risk patients with intradialytic parenteral nutrition (IDPN) history.</p><p><strong>Methods: </strong>Patients, who received individually IDPN (M-6 to M0) then ONS (M0 to M6), were followed over a 12-month period.</p><p><strong>Results: </strong>There was no change in serum albumin over time. The BMI increased between M-6 and M6. Food intake showed increase between M0 and M3. Quality-of-life score was stable between M0 and M6. None of the adverse events was judged related to ONS, PEPA, or research procedure.</p><p><strong>Conclusion: </strong>This study focusing on a new therapeutic strategy composed of ONS and PEPA membrane replacing IDPN to maintain nutritional markers in high-risk patients receiving hemodialysis might warrant further research with robust methodology.</p>","PeriodicalId":101351,"journal":{"name":"Biomedicine hub","volume":"10 1","pages":"98-104"},"PeriodicalIF":0.0,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12077863/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144083087","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pleuroperitoneal Leak: A Rare Complication of Peritoneal Dialysis.","authors":"Maria Lafrid, Narjiss Labioui, Mohammed Massine El Hammoumi, Mohammed Hallak, Hajar Laasli, Abdelali Bahadi, El Hassane Kabiri, Driss Elkabbaj","doi":"10.1159/000545281","DOIUrl":"https://doi.org/10.1159/000545281","url":null,"abstract":"<p><strong>Introduction: </strong>Pleuroperitoneal leakage is a rare but dramatical cause of pleural effusion; it can lead to the cessation of peritoneal dialysis. It typically manifests as respiratory distress and reduced drainage volumes.</p><p><strong>Case presentation: </strong>In this article, we report a case of pleuroperitoneal leak in a patient undergoing continuous ambulatory peritoneal dialysis who presented to the emergency with shortness of breath, lower limb edema, and weight gain. The diagnosis was established through pleural puncture, revealing that the pleural fluid is transudative with elevated glucose level which is pathognomonic for this condition, \"sweet hydrothorax.\" Furthermore, the composition of this fluid was almost identical to the peritoneal dialysis effluent. The management of this case involved temporarily discontinuing peritoneal dialysis and performing pleurodesis. The evolution was favorable, and peritoneal dialysis was resumed 2 weeks later.</p><p><strong>Conclusion: </strong>Patients on peritoneal dialysis who present with significant pleural effusion, especially if it is unilateral, should prompt clinicians to consider the possibility of a pleuroperitoneal leak.</p>","PeriodicalId":101351,"journal":{"name":"Biomedicine hub","volume":"10 1","pages":"93-97"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12064151/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144063699","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Slowly Progressive Type 1 Diabetes following Steroid-Sensitive Relapsing Nephrotic Syndrome in Childhood: A Case Report.","authors":"Masashi Kitahara, Kenji Kurata","doi":"10.1159/000545216","DOIUrl":"https://doi.org/10.1159/000545216","url":null,"abstract":"<p><strong>Introduction: </strong>In rare cases, idiopathic nephrotic syndrome (NS) and type 1 diabetes coexist, with diabetes typically preceding NS or presenting almost simultaneously with an acute onset requiring immediate insulin therapy.</p><p><strong>Case presentation: </strong>We report a unique case of a 5.1-year-old male who developed idiopathic NS and experienced glycosuria during steroid treatments for relapses, initially attributed to steroid-induced hyperglycemia. At age 10.2, he developed persistent glycosuria without steroid administration, and an oral glucose tolerance test confirmed diabetes. Despite positive anti-insulinoma-associated protein-2 antibodies, the patient maintained non-insulin-dependent glycemic control until, 13 months later, rapid-onset hyperglycemia necessitated insulin therapy, leading to a diagnosis of slowly progressive type 1 diabetes (SPT1D).</p><p><strong>Conclusion: </strong>This case represents the first reported instance of steroid-sensitive relapsing NS followed by SPT1D in childhood.</p>","PeriodicalId":101351,"journal":{"name":"Biomedicine hub","volume":"10 1","pages":"81-85"},"PeriodicalIF":0.0,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12037162/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144055834","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Coincidence of Takayasu Arteritis and Multiple Sclerosis: Narrative Review and Case Report.","authors":"Andrea Wesser, Andreas Albert Braun","doi":"10.1159/000545237","DOIUrl":"https://doi.org/10.1159/000545237","url":null,"abstract":"<p><strong>Introduction: </strong>Takayasu arteritis (TA) and multiple sclerosis (MS) are both immune-mediated diseases that can coexist, with TA causing vascular inflammation and MS involving demyelination driven by aberrant T-cell activity. The overlap of these conditions highlights shared immune mechanisms, such as T-cell dysregulation and cytokine release, underscoring the need for a nuanced understanding of their interplay, which is explored in a narrative review of reported cases.</p><p><strong>Case presentation: </strong>We narrate all reported cases of TA in patients with MS and report the case of a 57-year-old woman with MS with suspected bilateral optic neuritis and typical contrast-medium enhancement in both optic nerves. Because of normal visual acuity on both eyes, malignant hypertension, and fundoscopic findings indicative of hypertensive retinopathy, we diagnosed hypertensive retinopathy with secondary contrast-medium enhancement of the optic nerves. We established antihypertensive medication and searched for secondary causes of hypertension and highly elevated erythrocyte sedimentation rate, which led to the finding of large vessel wall inflammation and the diagnosis of TA.</p><p><strong>Conclusion: </strong>TA can present with a variety of ocular symptoms, including hypertensive retinopathy, retinal ischemia, and anterior ischemic optic neuropathy, often mimicking other diseases. While rare, the coexistence of TA and MS, including cases associated with interferon-beta therapy, suggests shared immune mechanisms and underscores the need for careful monitoring of patients with MS receiving immunomodulatory treatments. The broad spectrum of potential causes for optic nerve abnormalities necessitates a thorough evaluation to avoid misdiagnosis and ensure appropriate treatment.</p>","PeriodicalId":101351,"journal":{"name":"Biomedicine hub","volume":"10 1","pages":"72-80"},"PeriodicalIF":0.0,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12028982/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144061424","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Patient Characteristics Are Associated with Appointment \"No-Show\" at a Tertiary Academic Glaucoma Service: A Cross-Sectional Study.","authors":"Samantha Rosen, Julie Cassidy, Hai-Wei Liang, Lauren M Wasser, Doowon Huh, Andrew M Williams","doi":"10.1159/000545307","DOIUrl":"https://doi.org/10.1159/000545307","url":null,"abstract":"<p><strong>Introduction: </strong>Appointment \"no-shows\" (NS) are a significant issue for glaucoma patients, potentially leading to loss to follow-up, disease progression, and irreversible vision loss. This study investigates sociodemographic and clinical risk factors associated with NS at a tertiary academic eye center.</p><p><strong>Methods: </strong>A retrospective review of 100 glaucoma patients at the University of Pittsburgh Medical Center (UPMC) Vision Institute over 1 year was conducted. Patients were categorized as NS if they missed any glaucoma service appointment and as never no-show (NNS) if no appointments were missed. Baseline demographic, medical, and ophthalmic data were collected. Socioeconomic disadvantage was measured using the area deprivation index (ADI) based on residential ZIP codes.</p><p><strong>Results: </strong>Of 100 patients, 35 were classified as NS and 65 as NNS. NS patients had significantly higher ADI scores (79 vs. 65; <i>p</i> = 0.03) and were more frequently Black (54% [19/35] vs. 26% [17/65]; <i>p</i> = 0.01). Medical comorbidities were more common in NS patients (83% [29/35] vs. 48% [31/65]; <i>p</i> < 0.001), as were mental health diagnoses (34% [12/35] vs. 8% [5/65]; <i>p</i> < 0.001). Insurance type, glaucoma type, intraocular pressure, and visual acuity were not significantly different between groups.</p><p><strong>Conclusion: </strong>Higher socioeconomic disadvantage, Black race, medical comorbidities, and mental health diagnoses were associated with appointment NS among glaucoma patients. These findings highlight the need for targeted interventions to address these risk factors, improve follow-up adherence, and reduce the risk of disease progression.</p>","PeriodicalId":101351,"journal":{"name":"Biomedicine hub","volume":"10 1","pages":"86-92"},"PeriodicalIF":0.0,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12043280/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144063697","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effects of Ophthalmic Medications on Conjunctival Goblet Cell Density in New Zealand White Rabbits.","authors":"Sarahi Del Carmen Gómez Macías, Ricardo Osvaldo Jauregui Franco, José María Torres-Arellano, Elba Yadira Correa Gallegos, José Manuel Medina Espinosa, Alejandra Sánchez Ríos, Oscar Olvera Montaño","doi":"10.1159/000544102","DOIUrl":"10.1159/000544102","url":null,"abstract":"<p><strong>Introduction: </strong>The conjunctiva contains numerous specialized cells called conjunctival goblet cells (CGCs). The topical application of specific eye drops to the ocular surface has conclusively been linked to cause a reduction in CGCs, a condition which has been associated with dry eye and other ocular surface disorders. The purpose of this study was to assess if the use of benzalkonium chloride (BAK) as a preservative in common ophthalmic medications affects CGCs' density in New Zealand white (NZW) rabbit conjunctivas.</p><p><strong>Methods: </strong>Data from seven preclinical studies conducted between March 2016 and April 2021 were analyzed, involving 146 male NZW rabbits aged 2 to 3 months. Prior to study participation, rabbits underwent a 7-day quarantine period in individual housing, during which their general health was monitored. Rabbits had ad libitum access to water and food, with intake data recorded. Comprehensive ophthalmological examinations were performed on all eyes prior to and throughout the studies. The density of corneal endothelial cells was specifically assessed using AB/PAS staining and quantified with a high-power (40X) field objective (ocular 18 × 22), expressed as a percentage relative to epithelial cells.</p><p><strong>Results: </strong>No statistically significant differences were found between the with-BAK group and without-BAK group. The mean density in the 30-day group presented a statistically significant higher density than the >30-day group (<i>p</i> = 0.005). Analysis of the treatment revealed that antibiotic/steroid combination group had a higher average number of CGCs compared to both the antihistaminic group (<i>p</i> = 0.004) and hypotensive agent group (<i>p</i> = 0.047).</p><p><strong>Conclusion: </strong>Exposure to BAK-preserved medications for 30 days results in a higher density of CGCs compared to prolonged exposure to BAK-preserved medications exceeding 30 days. The pharmacological effects and associated cellular damage induced by BAK vary depending on the specific medication with which it is combined.</p>","PeriodicalId":101351,"journal":{"name":"Biomedicine hub","volume":"10 1","pages":"64-71"},"PeriodicalIF":0.0,"publicationDate":"2025-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11928072/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143695011","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Central Diabetes Insipidus in Father and Son Linked to a Rare Variant: A Case Report.","authors":"Paula Bruna Mattos Coelho Araujo, Luiz Filipe Rocha de Sá, Rafaela Sousa, Darine Villela, Thereza Taylanne Souza Loureiro Cavalcanti, Michele Patricia Migliavacca, Marilia Martins Guimaraes, Micheline Abreu Rayol Souza, Erika Naliato, Mariana Botelho, João Bosco Nascimento, Mirna Sanchez Carvallo, Pedro Martins Viveiros, Delmar Muniz Lourenço Junior, Rosita Fontes, Alice Helena Dutra Violante","doi":"10.1159/000543795","DOIUrl":"10.1159/000543795","url":null,"abstract":"<p><strong>Introduction: </strong>Central diabetes insipidus (CDI) is a rare disorder caused by a deficiency in the secretion of arginine vasopressin (AVP) from the posterior pituitary. It can be either acquired or congenital, often due to genetic factors, and is typically inherited in an autosomal dominant manner.</p><p><strong>Case presentation: </strong>This study describes the clinical features and the genetic analysis of a father and his son with familial CDI. Both presented in childhood with typical symptoms, including polyuria, polydipsia, and hypernatremia. Diagnosis was confirmed through water deprivation testing and subsequently supported by sellar magnetic resonance imaging. Genetic analysis identified the rare germline variant c.329G>A (p.Cys110Tyr) in the <i>AVP</i> gene, in heterozygosity, which segregated in the parent-child pair, thereby elucidating the familial basis of the CDI.</p><p><strong>Conclusion: </strong>This rare germline <i>AVP</i> variant causes a cysteine-to-tyrosine amino acid substitution in the encoded protein and is classified as pathogenic. Familial cases of rare diseases, such as CDI, highlight the importance of clinical evaluation of relatives with similar symptoms and emphasize the need for molecular studies and genetic counseling.</p>","PeriodicalId":101351,"journal":{"name":"Biomedicine hub","volume":"10 1","pages":"57-63"},"PeriodicalIF":0.0,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12215092/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144556373","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}