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A Clinical Genetics-Driven Dual Diagnosis of Prader-Willi Syndrome Due to Mosaic Maternal UPD(15) and NOTCH3-Related CADASIL.

Maternal uniparental disomy of chromosome 15 [UPD(15)mat] and imprinting defects account for about 30% of cases of Prader-Willi syndrome (PWS). Mosaic UPD(15)mat is rare and may escape routine testing. We describe a 45-year-old male patient in whom persistent clinical suspicion of PWS was not genetically confirmed by repeated methylation-based analyses. Clinical manifestations included neonatal hypotonia with low birth weight, early hyperphagia, severe obesity, short stature, growth hormone deficiency, type 2 diabetes mellitus, dyslipidemia, and MASLD/MASH with compensated cirrhosis. He presen

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… Additional comorbidities included dyslipidemia from childhood onwards, early arterial hypertension (adolescence), hyperuricemia, elevated homocysteine, and low testosterone. … This patient had long-standing morbid obesity, severe insulin resistance, type 2 diabetes, hypertension, hyperuricemia, recurrent urinary tract infections, and bladder dysfunction. …

Распространение значительного стеноза коронарной артерии и связи с каротидной максимальной токсикоманией в асимптоматических пациентах с умеренной хронической почечной болезнью: один-центральный, перспективный, межсекторальный анализ.

AIM: Болезнь коронарной артерии является одной из основных причин смертности пациентов с хроническими заболеваниями почек (CKD); однако фактическое бремя асимптомного коронарного стеноза у пациентов с продвинутой стадией CKD остается неясным. Мы изучили распространенность и связанные с этим факторы значительного строения коронарной артерии.≥ 50%) у асимптоматических пациентов с умеренно-тяжелыми (стадия) G3-5CKD. Кроме того, мы провели оценку полезности максимальной интимной толщины сонной артерии (ИМТ) для прогнозирования значительного коронарного стеноза у этих пациентов.МЕТОДЫ: 128 пациенты

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… ± 14.1 | Others | 9 (7.0%) Diastolic blood pressure (mmHg) | 75.0 ± 10.7 | CKD stage (number, %) | G3a | 43 (33.6%) Past or current smoking (number, %) | 77 (60.2%) | G3b | 42 (32.8%) Hypertension (number, %) | 103 (80.5%) | G4 | 39 (30.5%) Diabetes mellitus (number, %) | 45 (35.2%) | G5 | 4 (3.1%) Hyperuricemia … pressure (mmHg) | 1.02 (0.99–1.05) | 0.20 | | Diastolic blood pressure (mmHg) | 0.98 (0.95–1.02) | 0.33 | | Past or current smoking (yes vs no) | 2.04 (0.99–4.24) | 0.05 | | Hypertension (yes vs no) | 1.19 (0.48–2.87) | 0.70 | | Diabetes mellitus (yes vs no) | 1.61 (0.76–3.48) | 0.21 | | Hyperuricemia …

Association between advanced lung cancer inflammation index and acute gouty arthritis in Dalian, China: a cross-sectional study.

IntroductionAcute gouty arthritis (AGA) is an inflammatory joint disease. The advanced lung cancer inflammation index (ALI) evaluates inflammation. This study investigates the association between ALI and AGA.MethodsWe included 652 participants in this cohort study, dividing them into two groups: those with AGA and a control group without AGA. We employed logistic regression to examine the ALI-AGA relationship, using restricted cubic splines (RCS) to assess dose-response relationships, performing subgroup analyses, and conducting interaction tests. K-fold cross-validation was applied for model

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… Introduction Gout, the most prevalent form of inflammatory arthritis ( 1 ), results from the deposition of monosodium urate (MSU) crystals into joint tissues due to systemic hyperuricemia ( 2 ). … According to the Chinese Guidelines for Diagnosis and Treatment of Hyperuricemia and ( 46 ), 47.2–77.75% of patients with hyperuricemia and gout also have hypertension, and 12.2–26.9% have diabetes ( 46 ). …

Treating Infected Non-Healing Venous Leg Ulcers with Medical-Grade Honey: A Prospective Case Series.

Venous leg ulcers (VLUs) are hard-to-heal wounds and are prone to microbial colonization. Innovative and improved therapies are thus required to resolve local infection and enhance the wound healing process. The objective of this study was to evaluate the effectiveness of medical-grade honey (MGH) for the treatment of clinically infected and non-healing VLUs. This prospective case series included nine patients with an average age of 83.4 years (range: 75-91 years) with a total of eleven VLUs, previously ineffectively treated with various products. Major risk factors for the appearance of VLUs

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… Relevant comorbidities included CVI, DVT, heart failure, atrial fibrillation, hyperlipidemia, hyperuricemia, asthma, and osteoporosis. … The patient’s medical history included CVI, postmenopausal osteoporosis, multiple myeloma, and hyperuricemia, while she was under anticoagulant (tinzaparin sodium 4500 antiXA iu/0.45 mL, acetylsalicylic acid 100 mg) and glucocorticoid (methylprednisolone 16 mg) therapy. …

One-year mortality and consequences of COVID-19 in cancer patients: A cohort study.

The 1-year mortality and health consequences of COVID-19 in cancer patients are relatively underexplored. In this multicenter cohort study, 166 COVID-19 patients with cancer were compared with 498 non-cancer COVID-19 patients and 498 non-COVID cancer patients. The 1-year all-cause mortality and hospital mortality rates in Cancer COVID-19 Cohort (30% and 20%) were significantly higher than those in COVID-19 Cohort (9% and 8%, both P < .001) and Cancer Cohort (16% and 2%, both P < 0.001). The 12-month all-cause post-discharge mortality rate in survival discharged Cancer COVID-19 Cohort (8%) was

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… But comparing to Cancer Cohort, Cancer COVID‐19 Cohort was more likely to have a history of diabetes (9% vs 15%, P = .07), hyperlipidemia (7% vs 20%, P < .001), hyperuricemia (3% vs 10%, P < .001), and chronic obstructive pulmonary diseases (COPD; 1% vs 7%, P = .001), supporting the risks of these underlying … Many of the predictive risk factors for mortality in the Cancer COVID‐19 Cohort were similar to data reported in COVID‐19 patients. 20 In the adjusted Cox proportional hazards model, we observed significant associations of death with chronic diseases including hypertension, diabetes, hyperuricemia, COPD …

A Case Study of a Rare Disease (Fructosemia) Diagnosed in a Patient with Abdominal Pain.

Hereditary fructose intolerance is a rare genetic disorder that is inherited in an autosomal recessive manner, with mutations sometimes occurring spontaneously. Consuming fructose triggers biochemical abnormalities, disrupting liver processes like glycogenolysis and gluconeogenesis. Recent studies have revealed elevated intrahepatic fat levels in affected individuals. Symptoms include aversion to fructose-containing foods, hypoglycemia, liver and kidney dysfunction, and growth delays, with severe cases leading to liver enlargement, fatty liver disease, kidney failure, and life-threatening hypo

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… The decreased ATP (adenosine triphosphate) levels alter the AMP (adenosine monophosphate): the ATP ratio, leading to an increased AMP breakdown, results in hyperuricemia [ 5 ]. Elevated uric acid levels may cause gout symptoms. … Metabolic disturbances associated with HFI include hypoglycemia, lactic acidosis, hypophosphatemia, hyperuricemia, and hypermagnesemia [ 21 ]. …

Review of Hematology-Oncology Emergencies for Internal Medicine Residents.

The prevalence of cancer continues to grow globally every year. With therapeutic advances over the recent decades, the prevalence of individuals living with cancer continues to increase. Internal medicine residents can see patients admitted to the hospital for cancer-related emergencies. Early identification and appropriate management of these emergencies have been shown to improve mortality and morbidity. In this article, we aim to review the recent updates in the management of commonly encountered oncologic emergencies in the practice of internal medicine residents. This review will cover sp

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… Tumor lysis syndrome TLS results from the release of contents from cancer cells, resulting in hyperkalemia, hyperphosphatemia, hypocalcemia, and hyperuricemia. ​ … Recombinant urate oxidase for the prophylaxis or treatment of hyperuricemia in patients with leukemia or lymphoma. Pui CH, Mahmoud HH, Wiley JM, et al. J Clin Oncol. 2001;19:697–704. doi: 10.1200/JCO.2001.19.3.697. 11. The tumor lysis syndrome. Howard SC, Jones DP, Pui CH. …

Реальный риск перелома, состояние остеопороза и смертность японских пациентов с хроническими почечными заболеваниями G3-5.

СПРАВОЧНАЯ ИНФОРМАЦИЯ: В нескольких исследованиях были исследованы риск перелома и смертность на этапах хронического заболевания японскими почками (ХКД) G3-5 население, использующее крупномасштабную клиническую базу данных. МЕТОДЫ: В этом ретроспективном когортном исследовании были получены данные из 1 апрель 2008 в адрес 30 апрель 2023. Единовременный возрастной контроль без CKD был совмещен с каждым недиализовым CKD (по оценкам, гломерная фильтрация) < 60 мл/мин.1.73 m2) пациент. Были рассчитаны показатели всех и переломов бедра и смертности от всех причин после даты индекса.Результаты: 76,5

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… 82 (66–102) 81 (66–100) Hospital scale (number of beds) ≤ 199 3,695 (9.6) 4,693 (12.3) 0.140 0 (0.0) 200 to < 499 21,583 (56.4) 22,871 (59.7) ≥ 500 13,021 (34.0) 10,735 (28.0) Complications Hypertension 26,973 (70.4) 19,061 (49.8) 0.432 0 (0.0) Dyslipidemia 16,919 (44.2) 14,705 (38.4) 0.118 0 (0.0) Hyperuricemia … The CKD group had a higher complication rate than the control group in hypertension (70.4% and 49.8%) and hyperuricemia (34.9% and 7.5%), and more received beta-blockers (24.6% and 14.2%) and loop diuretics (29.3% and 9.3%). …

Возрастной состав Ассоциации по борьбе с диетическим протеином зависит от смертности всех пациентов с хроническими почечными заболеваниями.

Различается ли воздействие низкобелкового рациона питания на переход к конечной стадии почечных заболеваний (ЭСРД) и риск смертности среди молодых и пожилых людей с хроническими почечными заболеваниями (КХД) неясным. Мы провели ретроспективное когортное исследование CKD для изучения связи между потреблением белка и смертностью или почечными результатами, и влияет ли возраст на эту связь. В состав группы входили: 352 пациенты со стадией G3-5 CKD, за которым последовали на медиане 4.2 годы, прошли учебную госпитализацию и для которых исходное потребление белка оценивалось на основе 24-h Образцы

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… , hypertension (ICD-10 codes I10–I15), cardiovascular disease (CVD), protein intake, sodium intake, alcohol consumption status, smoking status, blood biochemistry (phosphate, albumin, C-reactive protein (CRP), and brain natriuretic peptide (BNP)), drugs (erythropoiesis stimulating agent (ESA), anti-hyperuricemia … In the multivariate model, the covariates included age, sex, BMI, CKD stage, diabetes, prior CVD, sodium intake, alcohol consumption status, smoking status, blood biochemistry (serum phosphate, albumin, CRP, and BNP), drugs (ESA, anti-hyperuricemia, phosphate binders, anti-hyperlipidemia, and RASi), …

Lactic acidosis and hypoglycemia as markers of disease progression of multiple myeloma: A case report.

Case report: A 64-year-old man was hospitalized in the intensive care unit with pneumonia, lactic acidosis, and hypoglycemia. Investigations revealed a kappa light chain multiple myeloma. The patient underwent chemotherapy by bortezomib, lenalidomide, and dexamethasone. Serum lactate level and glycemia normalized. Evaluation at day 28 showed a disease progression. Lenalidomide was switched for daratumumab, bortezomib, and dexamethasone. In front of the inefficiency of the chemotherapy, the patient underwent third-line chemotherapy by melphalan. There was a correlation between the evolution of

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… A wide variety of metabolic disorders are observed in patients presenting hematological malignancies, such as hyperuricemia, hypercalcemia, hypo‐ or hyperglycemia, lactic acidosis, and inappropriate secretion of antidiuretic hormone syndrome [ 5 ]. … As a result, tumor lysis syndrome occurred with hypocalcemia of 1.92 mmol/L, hyperphosphatemia of 1.79 mmol/L, hyperuricemia of 475 micromol/L, and acute kidney failure with creatinine of 189 micromol/L and hyperkaliemia of 5.22 mmol/L. …

Adverse drug reaction profile of microtubule-damaging antineoplastic drugs: A focused pharmacovigilance study in India.

ObjectivesThe aim of the study was to analyze the adverse drug reaction (ADR) profile of microtubule-damaging antineoplastic drugs (taxanes and vinca alkaloids) and to look for unexpected ADRs among the local population. Focused study on these drugs, rampantly used in oncology department for a wide variety of tumors including early and advanced malignancies, would enable better treatment care by physicians.Materials and methodsData on ADRs were collected from the cancer patients belonging to both gender and of all ages, on taxanes- or vinca-based cancer chemotherapy and reported in the Indian

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… Hyperuricemia and symptomatic hyponatremia were “not predictable;” though there are some reports of it, which cannot be considered conclusive. This again highlights the importance of a continued rigorous screening of drug safety profile. … constipation, obstipation, abdominal cramps, vomiting, diarrhea, paralytic ileus, urinary retention, polyuria, dysuria, syndrome of inappropriate antidiuretic hormone secretion (SIADH), weight loss, fever, stomatitis, headache and optic atrophy with blindness, and this study pointed out the same.[ 19 ] Hyperuricemia …

Abstracts from 2020 national congress of the Italian Society of Hypertension (SIIA).

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… THE ASSOCIATION BETWEEN HYPERURICEMIA AND ARTERIAL STIFFNESS AND COGNITIVE IMPAIRMENT IS STILL CONFIRMED AT NORMAL-HIGH VALUES P. Nazzaro, A. Nardecchia, M. Contini, G. Schirosi, L. De Benedittis, G. Aceto, A.M. Papagni Dept of Neurosciences, Unit of Hypertension “AM. … Nevertheless, it is unclear which is the accurate definition of hyperuricemia (HU) in presence of CKD and whether HU and renal impairment are independent risk factor for mortality. AIM: To analyse the relationship between SUA and CKD components in causing mortality. …

Selected abstracts from the XXXVIII National Congress of the Italian Society of Hypertension (SIIA)

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… Hyperuricemia was defined with the classic cut-off (>7.0 in men and >6.0 mg/dL in women) but also with a most recently defined one (5.6 mg/dL for both sex). … Hyperuricemia was defined as a value higher than 6 mg/dL for females and 7 mg/dL for males. …

The burden of major adverse cardiac events in patients with coronary artery disease.

BACKGROUND: Patients with a history of cardiovascular disease are at high risk of developing secondary major adverse cardiac events (MACE). This study aimed to identify independent predictors of MACE after hospital admission which could be used to identify of high-risk patients who may benefit from preventive strategies. METHODS: This study included 1,520 consecutive patients with coronary artery disease (CAD) (654 with acute coronary syndrome (ACS) and 866 with elective percutaneous coronary intervention (PCI) patients) who received PCI and/or stenting. MACE was defined as all-cause mortalit

Efficacy, Safety, and Population Pharmacokinetics of MW032 Compared With Denosumab for Solid Tumor-Related Bone Metastases: A Randomized, Double-Blind, Phase 3 Equivalence Trial.

ImportanceThe bioequivalence of denosumab biosimilar has yet to be studied in a 53-week, multicenter, large-scale, and head-to-head trial. A clinically effective biosimilar may help increase access to denosumab in patients with solid tumor-related bone metastases.ObjectivesTo establish the biosimilarity of MW032 to denosumab in patients with solid tumor-related bone metastases based on a large-scale head-to-head study.Design, setting, and participantsIn this 53-week, randomized, double-blind, phase 3 equivalence trial, patients with solid tumors with bone metastasis were recruited from 46 clin

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… 0 | 0 Kidney failure | 3 (0.9) | 6 (1.7) Treatment related | 1 (0.3) | 1 (0.3) Increased blood creatinine | 19 (5.4) | 29 (8.2) Treatment related | 8 (2.3) | 10 (2.8) Treatment-related TEAEs reported in 5% of either group | | Hypophosphatemia | 55 (15.7) | 38 (10.7) Weakness | 27 (7.7) | 34 (9.6) Hyperuricemia … 5.7) | 26 (7.3) Back pain | 12 (3.4) | 18 (5.1) Hypertriglyceridemia | 9 (2.6) | 20 (5.6) Arthralgia | 6 (1.7) | 19 (5.4) Treatment-related TEAEs with the highest incidence were hypocalcemia (125 MW032 [35.6%] vs 146 denosumab [41.2%]), hypophosphatemia (55 MW032 [15.7%] vs 38 denosumab [10.7%]) and hyperuricemia …

ALG-000184 (pevifoscorvir sodium) monotherapy in participants with chronic HBV infection: a phase 1, multicentre, randomised, dose escalation trial.

BACKGROUND: ALG-000184 (pevifoscorvir sodium) is a prodrug of the class-E (empty) capsid assembly modulator (CAM), ALG-001075. CAM-Es preven … bo), increased aspartate aminotransferase (AST) concentrations (12 participants [25%] vs one [9%]), hyperuricemia (five [10%] vs two [18%]), headache (four [8%] vs one [9%]), elevated amylase (three [6%] vs none) and upper respiratory tract infection (three [6%] vs none). There were two serious adverse events unrelated to ALG-000184 (mild spinal pain and sponta …

Clindamycin-induced Maculopapular Exanthema with Preferential Involvement of Striae Distensae: A Koebner phenomenon?

Clindamycin is a lincomycin-derived antibiotic useful for the treatment of anaerobic and Gram-positive aerobic bacterial infections. Cutaneo … which had started 6 days earlier. Her past clinical history included hypertension, hypothyroidism, hyperuricemia, cholecystectomy, caesarean section, and endometriosis-related abdominal surgery, and she was taking levothyroxine, allopurinol, imidapril, and omeprazole. The skin rash first developed on her neck and back on the 3rd day of clindamycin oral treatme …

[Prevention of diabetic foot].

Diabetic foot (DF) is the most common chronic complication, which depends mostly on the duration and successful treatment of diabetes mellit … rders (treatment with fenofibrate reduces the incidence of DF amputations (EBM-Ib/A), hypertension, hyperuricemia, neuropathy, and angiopathy (surgical reconstructive bypass) or endovascular (percutaneous transluminar angioplasty). In the low-risk group of PwDM, no particular results can be achieved, in contrast to the high-risk groups of PwDM where patient and …

Bortezomib.

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… Hyperuricemia may result from cell lysis by cytotoxic chemotherapy and may lead to electrolyte disturbances or acute renal failure. It results most likely with highly proliferative tumors of massive burden, such as leukemias, high-grade lymphomas and myeloproliferative diseases. …

Clinicopathologic predictors of renal response and survival in newly diagnosed multiple myeloma with renal injury: a retrospective study.

Renal impairment (RI) is a common complication of multiple myeloma (MM), which is associated with poor prognosis. Here, we revealed the association between regular examination data and RI incidence, RI response and survival in newly diagnosed multiple myeloma (NDMM) patients. A retrospective analysis was conducted on the initial clinical data of 647 NDMM patients, comprising 193 patients (29.83%, 193/647) with RI and 454 (70.17%, 454/647) without RI at diagnosis. Logistic regression analyses, both univariate and multivariate, were performed to identify the independent influencing factors of RI

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… Wu J Qiu L Cheng XQ Hyperuricemia and clustering of cardiovascular risk factors in the Chinese adult population Sci Rep 2017 7 5456 10.1038/s41598-017-05751-w 28710367 PMC5511152 Wu J, Qiu L, Cheng XQ, et al. … Hyperuricemia and clustering of cardiovascular risk factors in the Chinese adult population. Sci Rep. 2017;7:5456. 10.1038/s41598-017-05751-w. 28710367 10.1038/s41598-017-05751-w PMC5511152 40. …