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[Clinical characteristics and treatment of two children with Lesch-Nyhan syndrome].

OBJECTIVE: To explore the clinical, genetic, therapeutic and prognostic characteristics of two children with Lesch-Nyhan syndrome (LNS) in o … onia, anxious expression, lower lip damage, and communication difficulties. Laboratory tests showed hyperuricemia and renal stones. Genetic testing identified a hemizygote variant of the HPRT1 gene, c.135G>T (p.Arg45Ser), inherited from an asymptomatic carrier mother, which confirmed the diagnosis of LNS. This variant was absent from population databases (gnomA …

Rasburicase vs. allopurinol: mortality in hematological malignancies post anti-hyperuricemic therapy - real-world study.

PURPOSE: This retrospective, real-world (RW) study utilizing propensity score matching investigated tumor lysis syndrome (TLS)-related mortalities following anti-hyperuricemic (HU) monotherapy (allopurinol vs. rasburicase) in hematological malignancies. The study aim was to determine if a significant difference exists in the proportion of TLS-associated mortalities in hematological malignancy patients who received either rasburicase or allopurinol. METHODS: Following random selection of patient cases of rasburicase or allopurinol monotherapy, 141 in each group were PS-matched for TLS risk usi

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… MS Cairo 2002 Prevention and treatment of hyperuricemia in hematological malignancies Clin Lymphoma 3 Suppl 1 S26–31 4. Howard SC, Jones DP, Pui CH (2011) The tumor lysis syndrome. N Engl J Med 364(19):1844–1854 5. … Martens KL, Khalighi PR, Li S, White AA, Silgard E, Frieze D (2019) Comparative effectiveness of rasburicase versus allopurinol for cancer patients with renal dysfunction and hyperuricemia. Blood 134:4674 22. …

Ксантин Оксидореводаза: Меч с двойным отростком в неврологических заболеваниях.

Неинфекционные неврологические расстройства являются второй основной причиной смерти, и их бремя продолжает расти по мере роста и старения населения мира. Окисляющий стресс и воспаление во многом связаны с активацией и развитием множественных склерозов, болезни Альцгеймера, амиотропического бокового склероза, болезни Хантингтона, болезни Паркинсона и даже инсульта. В ходе этого обзора мы изучаем роль деятельности и продуктов " xanthine oxidoreducase " (XOR) во всех вышеупомянутых неврологических заболеваниях. Редоксальный дисбаланс, вызывающий окислительный стресс, может возникнуть и

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… In addition, hyperuricemia stimulates the expression of endothelin and promotes hypertension through the formation of angiotensin II by upregulating the renin–angiotensin system [ 75 ]. … This finding raises the question of whether hyperuricemia protects against neurodegenerative diseases or if hyperuricemia treatment with allopurinol is responsible for the protection. A possible answer is provided in the following paragraph. …

Nucleotide Metabolism in Health and Disease.

Nucleotide metabolism is a fundamental biochemical process, providing the building blocks for DNA and RNA synthesis while driving critical cellular functions like energy transfer, signal transduction, and coenzyme synthesis. The precise regulation of nucleotide de novo synthesis, salvage, and degradation pathways is imperative for maintaining genomic stability and tissue homeostasis. Aberrations in these networks are increasingly recognized as primary drivers in various pathologies; notably, cancer cells exploit metabolic-functional reprogramming to enable rapid proliferation and therapeutic r

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… This can lead to hyperuricemia. Allopurinol is commonly used to treat gout. It is structurally similar to hypoxanthine, except that in allopurinol, the positions of N7 and C8 are swapped, allowing it to inhibit XO and thereby reduce uric acid production. …

Advanced Practice Perspectives on Preventing and Managing Tumor Lysis Syndrome and Neutropenia in Chronic Lymphocytic Leukemia.

Tumor lysis syndrome (TLS) and neutropenia are significant toxicities in the treatment of chronic lymphocytic leukemia (CLL). Both TLS and neutropenia can lead to potentially life-threatening complications for patients with chronic lymphocytic leukemia undergoing antineoplastic therapy. This article focuses on diligent risk assessment, prophylaxis, early identification, monitoring, patient education, and prompt intervention for TLS and neutropenia. These are all necessary steps to reduce life-threatening complications. Guidelines are available for risk assessments for both TLS and neutropenia.

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… Laboratory TLS is characterized by hyperuricemia, hyperkalemia, hyperphosphatemia, and hypocalcemia. In laboratory TLS, electrolyte imbalances are not severe and do not cause systemic sequelae. … Food & Drug Association (FDA) approved for use in the chronic management of hyperuricemia in patients with gout and is not recommended for the treatment of asymptomatic hyperuricemia. …

Idiopathic Fibrillary Glomerulonephritis: A Case Report Highlighting Diagnostic and Management Challenges.

Fibrillary glomerulonephritis (FGN) is a rare glomerular disease characterized by non-branching fibrils within the glomerular basement membrane, often leading to progressive renal dysfunction. Despite advances in diagnostic methods, including DNA-J heat shock protein family member B9 (DNAJB9) immunostaining, the pathogenesis and optimal treatment strategies remain poorly defined. We present the case of a 55-year-old woman with longstanding microscopic hematuria and subnephrotic proteinuria who was diagnosed with idiopathic fibrillary glomerulonephritis (IFGN) following a renal biopsy. Histopat

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… The patient’s medical history was significant for hypertension, obesity, type 2 diabetes mellitus, hyperlipidemia, hyperuricemia, and gastroesophageal reflux disease. She was on long-term treatment with statin, verapamil, omeprazole, metformin, lisinopril, and allopurinol. … Allopurinol was continued to prevent hyperuricemia-related nephropathy, considering the patient’s history of hyperuricemia. …

Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes.

OBJECTIVE: Gout, caused by hyperuricaemia, is a multifactorial disease. Although genome-wide association studies (GWASs) of gout have been reported, they included self-reported gout cases in which clinical information was insufficient. Therefore, the relationship between genetic variation and clinical subtypes of gout remains unclear. Here, we first performed a GWAS of clinically defined gout cases only. METHODS: A GWAS was conducted with 945 patients with clinically defined gout and 1213 controls in a Japanese male population, followed by replication study of 1048 clinically defined cases an

Multicenter investigation of lifestyle-related diseases and visceral disorders in thalidomide embryopathy at around 50 years of age.

BACKGROUND: In utero exposure to thalidomide causes a wide range of birth defects, including phocomelia, hearing loss and visceral disorders, known as thalidomide embryopathy (TE). Fifty years after the first report of TE, we conducted the first cross-sectional multicenter study to investigate the development of lifestyle-related diseases and identify risk factors for visceral disorders in subjects with TE. METHODS: Seventy-six cases with TE (31 men, 45 women) underwent medical examinations between 2011 and 2014 to determine the types of TE-related anomalies (limbs, auditory organs, or viscer

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… In addition, LVH and hyperuricemia were also major concerns for subjects with TE, with frequencies of 17.1% and 21.1%, respectively. Overall, men were more susceptible than women to lifestyle‐related diseases, with the exception of LVH and DM. … Lifestyle‐related diseases in subjects with TE can be accurately diagnosed by measurements of dyslipidemia, hyperglycemia and hyperuricemia, which are known markers of arteriosclerosis. In our study, these conditions affected approximately 25% of subjects with TE. …

Diagnosis and Management of Oncologic Emergencies.

Oncologic emergencies may be seen in any emergency department and will become more frequent as our population ages and more patients receive chemotherapy. Life-saving interventions are available for certain oncologic emergencies if the diagnosis is made in a timely fashion. In this article we will cover neutropenic fever, tumor lysis syndrome, hypercalcemia of malignancy, and hyperviscosity syndrome. After reading this article the reader should be much more confident in the diagnosis, evaluation, and management of these oncologic emergencies.

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… Consequently, laboratory values may reflect hyperkalemia, hyperphosphatemia, hypocalcemia, and hyperuricemia. 36 Initial testing should include CBC with differential, CMP, lactate dehydrogenase, uric acid, phosphate, total and ionized calcium levels, and urinalysis. … rate and crystal obstruction. 44 Allopurinol is effective in the prevention of uric acid production; however, it does not decrease uric acid already present, and so is less effective in treating TLS. 44 – 45 Rasburicase, a recombinant urate oxidase, has shown good promise when used for hyperuricemia …

Acute kidney injury in the patient with cancer.

Dramatic advances in the care of patients with cancer have led to significant improvement in outcomes and survival. However, renal manifestations of the underlying cancer as well as the effects of anti-neoplastic therapies leave patients with significant morbidity and chronic kidney disease risks. The most common renal manifestations associated with cancer include acute kidney injury (AKI) in the setting of multiple myeloma, tumor lysis syndrome, post-hematopoietic stem cell therapy, and AKI associated with chemotherapy. Knowledge of specific risk factors, modification of risk and careful atte

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… These cellular contents can lead to hyperuricemia, hyperkalemia, hyperphosphatemia, and hypocalcemia. While there are no universally accepted diagnostic criteria for TLS, the Cairo–Bishop definition of both laboratory and clinical criteria are commonly utilized [ 93 ]. … In patients with hyperuricemia present at diagnosis as well as underlying AKI or CKD, recombinant urate oxidase (rasburicase) may be employed to correct hyperuricemia. Rasburicase catalyzes uric acid formation to soluble allantoin, which is rapidly excreted by the kidney. …

Determination of drug-related problems in the hematology service: a prospective interventional study.

BackgroundPatients with hematological malignancies often require multidrug therapy using a variety of antineoplastic agents and supportive care medications. This increases the risk of drug-related problems (DRPs). Determining DRPs in patients hospitalized in hematology services is important for patients to achieve their drug treatment goals and prevent adverse effects. This study aims to identify DRPs by the clinical pharmacist in the multidisciplinary team in patients hospitalized in the hematology service of a university hospital in Turkey.MethodsThis study was conducted prospectively betwee

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… Also, venetoclax-related hyperuricemia, hyperkalemia and neutropenia were observed in some patients. … In their study by Koehler et al., venetoclax-related hyperkalemia (31%) and hyperuricemia (5%) were observed [ 56 ]. In our study, one acute lymphoblastic leukemia patient had vincristine-induced neuropathy. …

Efficacy and Safety of Dulaglutide Biosimilar LY05008 Versus the Reference Product Dulaglutide (Trulicity) in Chinese Adults With Type 2 Diabetes Mellitus: A Randomized, Open-Label, Active Comparator Study.

BACKGROUND: Dulaglutide, a glucagon-like peptide-1 (GLP-1) receptor agonist, has been approved for improving glycemic control and reducing t … Y05008 and dulaglutide groups were decreased appetite, diarrhea, upper respiratory tract infection, hyperuricemia, nausea, urinary tract infection, and vomiting. Most TEAEs were mild to moderate in severity. No significant differences were observed between the groups in terms of TEAEs. Hypoglycemic events were noted in 0.9% of patients who had received LY05008 …

Clinic-pathological characteristics of rare tubulointerstitial diseases.

OBJECTIVES: Tubulointerstitial diseases is one of the common causes of renal dysfunction. Some rare pathological types are easy to be misdia … ted as CKD, mostly mild proteinuria, with or without microscopic hematuria, and also presented with hyperuricemia, urine glucose under normal blood glucose, anemia, polycystic kidneys. Only 1 case had a clear family history, and the diagnosis was mainly based on renal pathological characteristics and genetic testing. Compared with patients with non-genetic rela …

Экстренные ситуации в гематологии: Почему, когда и как я лечусь?

Гематологические чрезвычайные ситуации являются критическими медицинскими условиями, требующими неотложного внимания в силу их быстрого развития и опасного для жизни характера. В качестве примера можно привести гиперкальцемию, которая часто ассоциируется с раком, таким как множественная миелома, что может привести к серьезной неврологической и сердечной дисфункции. Гиперлейкоцитоз, распространенный в острой миэлоидной лейкемии, повышает риск лейкостаза и многоорганического отказа. Кислородный кризис, обычное осложнение серповидноклеточной болезни, является результатом вазооккуляции, приводящей

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… Laboratory TLS was primarily marked by hyperuricemia, while clinical TLS was associated with renal insufficiency and cardiac arrhythmias [ 46 ]. … Intermittent hemodialysis can be used in patients with hyperkalemia and hyperuricemia, while continuous hemodialysis is used in critical situations. …

Case report of a tibial fracture in a patient suffering from gout: An atypical site, the importance of differential diagnosis.

We present the case of a 60-year-old man with a history of severe tophaceous gout with polyarticular involvement who came to the emergency room due to direct trauma to the right forearm and knee. The knee X-ray and CT scan showed a lateral tibial plateau fracture characterized by the presence of a lytic bone lesion. The presence of a solid neoplasm was ruled out and a CT-guided biopsy was performed. Histological evaluation revealed findings typical for an advanced intraosseous gout. As there was no significant risk of progression of the lytic lesion, the fracture site was treated conservativel

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… The disease is characterized by a state of hyperuricemia (caused by hypo excretion or overproduction of uric acid) resulting in intra-articular deposition of urate crystals. … It predominantly affects young adults (median age: 28 years) and often correlates with 1 or more of the following risk factors: hyperuricemia, genetic factors, dietary factors, alcohol consumption, metabolic syndrome, diuretic use, renal disease [3] . …

2022 NATIONAL CONGRESS OF THE ITALIAN SOCIETY OF HYPERTENSION (SIIA)

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… Among adiposity indexes, LAP present the highest OR for the relationship with hyperuricemia. … Among adiposity indexes, LAP present the highest OR for the relationship with hyperuricemia. …

Nephrotoxicity in Bispecific Antibodies Recipients: Focus on T-Cell-Engaging Bispecific Antibodies.

Recently, bispecific antibodies (BsAbs) are evolving the landscape of cancer treatment and have significantly improved the outcomes of relapsed or refractory cancer patients. As increasing BsAbs entered clinical practice, specific toxicities have emerged, and renal side-effects have been described. However, there are a lack of studies analyzing the nephrotoxicity in the anti-cancer BsAbs recipients systematically. In this review, we demonstrate the etiologies, mechanisms, other risk factors and treatment options of kidney injury in the BsAbs recipients to provide a more comprehensive insight i

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… , hyperphosphatemia, hyperkalemia, and hypocalcemia, brought about by rapid tumor cell destruction that may result in a variety of systematic manifestations including musculoskeletal, cardiac, neurologic, and kidney injury. 41 Hyperuricemia can cause nephropathy/nephrocalcinosis-induced renal failure … The syndrome is seen most frequently in patients with lymphoproliferative malignancies. 44 Of note, some suggest that TLS itself can also develop life threatening conditions including sudden cardiac failure through induction of hypocalcemia, hyperkalemia, and hyperuricemia, 45 which may be a risk factor …

Variants in urate transporters, ADH1B, GCKR and MEPE genes associate with transition from asymptomatic hyperuricaemia to gout: results of the first gout versus asymptomatic hyperuricaemia GWAS in Caucasians using data from the UK Biobank.

OBJECTIVES: To perform a genome-wide association study (GWAS) of gout cases versus asymptomatic hyperuricaemia (AH) controls, and gout cases versus normouricaemia controls, and to generate a polygenic risk score (PRS) to determine gout-case versus AH-control status. METHODS: Gout cases and AH controls (serum urate (SU) ≥6.0 mg/dL) from the UK Biobank were divided into discovery (4934 cases, 56 948 controls) and replication (2115 cases, 24 406 controls) cohorts. GWAS was conducted and PRS generated using summary statistics in discovery cohort as the base dataset and the replication cohort as t

Relative efficacy of casein or soya protein combined with palm or safflower-seed oil on hyperuricaemia in rats.

Diets that ameliorate the adverse effects of uric acid (UA) on renal damage deserve attention. The effects of casein or soya protein combined with palm or safflower-seed oil on various serum parameters and renal histology were investigated on hyperuricaemic rats. Male Wistar rats administered with oxonic acid and UA to induce hyperuricaemia were fed with casein or soya protein plus palm- or safflower-seed oil-supplemented diets. Normal rats and hyperuricaemic rats with or without allopurinol treatment (150 mg/l in drinking water) were fed with casein plus maize oil-supplemented diets. After 8