scholarly journals Identification of a new mutation in the human xanthine dehydrogenase responsible for xanthinuria type I

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Cristina Collazo Abal ◽  
Susana Romero Santos ◽  
Carmen González Mao ◽  
Emilio C. Pazos Lago ◽  
Francisco Barros Angueira ◽  
...  
Keyword(s):  
Aldehyde Oxidase ◽  
Renal Calculi ◽  
Xanthine Dehydrogenase ◽  
Type I ◽  
Dietary Recommendations ◽  
New Mutation ◽  
Case Presentation ◽  
Hereditary Xanthinuria ◽  
Urine Levels ◽  
Made In

Abstract Objectives Hereditary xanthinuria is a rare, autosomal and recessive disorder characterized by severe hypouricemia and increased xanthine excretion, caused by a deficiency of xanthine dehydrogenase/oxidase (XDH/XO, EC: 1.17.1.4/1.17.3.2) in type I, or by a deficiency of XDH/XO and aldehyde oxidase (AOX, EC: 1.2.3.1) in type II. Case presentation We describe a novel point mutation in the XDH gene in homozygosis found in a patient with very low serum and urine levels of uric acid, together with xanthinuria. He was asymptomatic but renal calculi were discovered during imaging. Additional cases were found in his family and dietary recommendations were made in order to prevent further complications. Conclusions Hereditary xanthinuria is an underdiagnosed pathology, often found in a routine analysis that shows hypouricemia. It is important for Laboratory Medicine to acknowledge how to guide clinicians in the diagnosis.

scholarly journals Contradiction between genetic analysis and diuretic loading test in type I Bartter syndrome: a case report

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Jumpei Kuroda ◽  
Ryoko Harada ◽  
Riku Hamada ◽  
Yusuke Okuda ◽  
Yasuhiro Yoshida ◽  
...  
Keyword(s):  
Bartter Syndrome ◽  
Type I ◽  
Loading Test ◽  
New Mutation ◽  
Lower Extremity Weakness ◽  
Case Presentation ◽  
Abnormal Gait ◽  
Typical Type ◽  
The Difference ◽  
Clear Increase

Abstract Background In typical cases of Bartter syndrome (BS), assessing response to diuretics (furosemide and thiazide), hereinafter referred to as diuretic loading test, may be used to diagnose the type by detecting which part of the kidney tubule is not functioning correctly. However, the diuretic loading test may not always agree with the results of genetic analyses. Case presentation A 5-year-old boy was admitted due to lower extremity weakness and abnormal gait. He had a recurrent episode of muscle weakness and laboratory results showed severe hypokalemia. The direct genomic sequencing of the case revealed a new mutation in the SLC12A1 gene, which is associated with type I Bartter syndrome. Because there was the difference between the phenotype and genotype, we conducted a diuretic loading test to confirm the diagnosis. However, the results showed a clear increase in urine excretion of Na and Cl. These results were not consistent with typical type I BS, but consistent with the patient’s phenotype. Conclusion The diuretic loading test has limited utility for diagnosis especially in atypical cases. On the other hand, this test, which allows assessment of channel function, is useful for better understanding of the genotype-phenotype correlation.

scholarly journals An essential dimer-forming subregion of the endoplasmic reticulum stress sensor Ire1

2005 ◽  
Vol 391 (1) ◽  
pp. 135-142 ◽  
Author(s):  
Daisuke Oikawa ◽  
Yukio Kimata ◽  
Masato Takeuchi ◽  
Kenji Kohno
Keyword(s):  
Endoplasmic Reticulum ◽  
Recombinant Protein ◽  
Endoplasmic Reticulum Stress ◽  
Transmembrane Protein ◽  
Type I ◽  
Unfolded Protein ◽  
The Unfolded Protein Response ◽  
Protein Response ◽  
Recombinant Fragments ◽  
Made In

The luminal domain of the type I transmembrane protein Ire1 senses endoplasmic reticulum stress by an undefined mechanism to up-regulate the signalling pathway for the unfolded protein response. Previously, we proposed that the luminal domain of yeast Ire1 is divided into five subregions, termed subregions I–V sequentially from the N-terminus. Ire1 lost activity when internal deletions of subregion II or IV were made. In the present paper, we show that partial proteolysis of a recombinant protein consisting of the Ire1 luminal domain suggests that subregions II–IV are tightly folded. We also show that a recombinant protein of subregions II–IV formed homodimers, and that this homodimer formation was impaired by an internal deletion of subregion IV. Furthermore, recombinant fragments of subregion IV exhibited a self-binding ability. Therefore, although its sequence is little conserved evolutionarily, subregion IV plays an essential role to promote Ire1 dimer formation.

Chemistry of Food and Nutrition

PEDIATRICS ◽  
1948 ◽  
Vol 1 (3) ◽  
pp. 434-434
Keyword(s):  
Federal Government ◽  
Research Council ◽  
National Research Council ◽  
Dietary Recommendations ◽  
Food And Nutrition ◽  
Nutritive Values ◽  
College Classes ◽  
Made In

While this book is designed primarily for students in college classes, it should be of service to many other types of readers. Essential changes have been made in the text, several chapters have been rewritten, and two new chapters dealing with the nutritive characteristics of the chief group of foods and the causes and extent of variations in the nutritive values of food have been added. These values have been revised in accordance with the recent dietary recommendations and studies of food values by the Federal Government and the National Research Council.

Cardiac and Respiratory Arrest in a 12-Year-Old Girl with Acute Permethrin Toxicity: A Case Report

2021 ◽  
Author(s):  
Hesam Adin Atashi ◽  
Hamid Zaferani Arani ◽  
Seyyed Mojtaba Ghorani ◽  
Mahya Sadat Teimouri Khorasani ◽  
Masoumeh Moalem
Keyword(s):  
Case Report ◽  
Brain Damage ◽  
Respiratory Arrest ◽  
Spontaneous Circulation ◽  
Type I ◽  
Medical Problems ◽  
Present Case Report ◽  
Case Presentation ◽  
Hypoxic Brain Damage ◽  
Hypoxic Brain

Abstract Background: Permethrin (PER) is widely employed as the most frequently used type I synthetic pyrethroid insecticide. Despite its worldwide application, reports of pediatric toxicity following permethrin administration are scarce.Case presentation: The present case report involves a 12-year-old Afghan girl, with no previous medical problems, who drank an unknown insecticide covertly at home. Two hours after ingestion, she was taken to the emergency room with neither breathing signs nor a heartbeat. She was immediately transferred to the cardiopulmonary resuscitation (CPR) room, and her spontaneous circulation was returned after a few minutes of CPR. She was then intubated, volume resuscitated with intravenous normal saline, and connected to the mechanical ventilator after being transferred to the ICU ward. The patient remained comatose without spontaneous breathing, her pupils became bilateral mydriasis, and central diabetes insipidus became evident after three days due to apnea and hypoxic brain damage following insecticide ingestion. The chemical analysis of the insecticide bottle showed 10% permethrin without organophosphates, as initially expected. Unfortunately, after seven days, the patient passed away due to resistant hypotension and severe brain damage.Conclusion: Permethrin is widely used globally as an insecticide. However, there are many unmet needs in permethrin toxicity treatment, and the treatment is mainly supportive. Depending on the amount and dose of permethrin, the most common symptoms can vary from headache, dyspnea, and vomiting to metabolic acidosis and cardiac and respiratory arrest, which can lead to hypoxic brain damage and death, as was the outcome in our case.

scholarly journals Cardiac Arrest due to Tamponade during Endovascular Stent Implantation: a Case Report

2021 ◽  
Author(s):  
Rou Yu ◽  
Jun Zeng
Keyword(s):  
Cardiac Arrest ◽  
Cardiac Tamponade ◽  
Stent Implantation ◽  
Venous Pressure ◽  
Type I ◽  
Endovascular Stent ◽  
Hemodynamic Changes ◽  
Case Presentation ◽  
Heart Injury ◽  
Multidisciplinary Teamwork

Hemorrhagic cardiac tamponade is one of potentially fatal complications of endovascular intervention. Usually it is because of perforation of heart or rupture of aorta. Cases of pericardial effusion without any arterial or heart injury are rare. Case presentation we reported is a clinical case of cardiac arrest due to tamponade in a patient with DeBakey type I aortic dissection (AD) undergoing thoracic aortic stent implantation. In the early phase of the procedure, hemodynamic changes of increased central venous pressure and decreased blood pressure - by tamponade were noticed but unrecognized and lead to cardiac arrest ultimately. During resuscitation, cardiac tamponade was suspected and confirmed by transesophageal echocardiography (TEE). The patient was successfully resuscitated after pericardiocentesis. Conclusion This case of cardiac tamponade emphasizes the importance of vigilant clinical and echo assessments, efficient multidisciplinary teamwork in deal with the rare but severe complication.

Unexpected serious aplastic anemia from PD-1 inhibitors: beyond what we know

2019 ◽  
Vol 105 (6) ◽  
pp. NP48-NP51 ◽  
Author(s):  
Marco Filetti ◽  
Raffaele Giusti ◽  
Arianna Di Napoli ◽  
Daniela Iacono ◽  
Paolo Marchetti
Keyword(s):  
Aplastic Anemia ◽  
Patient Outcomes ◽  
Case Reports ◽  
Stage Iv ◽  
Standard Of Care ◽  
Real World Data ◽  
Case Presentation ◽  
Lung Cancers ◽  
Insight Into ◽  
Made In

Introduction: The recent introduction of checkpoint inhibitor–based immunotherapy has revolutionized the treatment of advanced lung cancers, becoming standard of care in both first- and second-line treatment. New types of toxicity are emerging with the increasingly widespread use of these inhibitors. Case presentation: We describe a case of aplastic anemia in a patient with stage IV non-small cell lung cancer after a single administration of nivolumab. Conclusions: Several similar case reports reported in literature show an increasing rate of toxicities from immunotherapy in this setting. These real-world data provide an insight into patient outcomes and treatment decisions being made in clinical practice.

Identification of a new point mutation in the human xanthine dehydrogenase gene responsible for a case of classical type I xanthinuria

2001 ◽  
Vol 108 (4) ◽  
pp. 279-283 ◽  
Author(s):  
Norikazu Sakamoto ◽  
Tetsuya Yamamoto ◽  
Yuji Moriwaki ◽  
Tetsuya Teranishi ◽  
Masanori Toyoda ◽  
...  
Keyword(s):  
Point Mutation ◽  
Xanthine Dehydrogenase ◽  
Classical Type ◽  
Type I ◽  
Dehydrogenase Gene
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