6,233 results match your criteria: "Xanthelasma"
The clinical and biochemical effectiveness and safety of cholic acid treatment for bile acid synthesis defects: a systematic review.
Orphanet J Rare Dis
December 2024
Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, Amsterdam, 1105 AZ, The Netherlands.
Background: Bile acid synthesis defects (BASDs) can be severely disabling involving the liver and nervous system, potentially due to elevated levels of toxic C-bile acid intermediates. Cholic acid (CA) supplementation is hypothesized to decrease bile acid production, stimulate bile secretion and -flow, and slowing down disease progression. This systematic review assesses the clinical and biochemical effectiveness, and safety of CA in BASDs patients.
View Article and Find Full Text PDFAssessment and Predictors of Metabolic Syndrome in Patients of Xanthelasma Palpebrarum: An Observational Study.
Dermatol Pract Concept
October 2024
Department of Dermatology, Venereology and Leprosy, Teerthanker Mahaveer Medical College and Research Centre, Moradabad, Uttar Pradesh, India.
Introduction: Xanthelasma palpebrarum is considered to be a cutaneous marker for cardiovascular diseases, and there is a known association with hypertension, insulin resistance, diabetes mellitus, obesity, and stroke.
Objectives: Our aim was to study the association and identify the predictors of metabolic syndrome in patients with xanthelasma palpebrarum.
Methods: An observational study was conducted on 55 patients in which patients of both sexes ages 20-70 years without any other skin condition were included after written informed consent.
Challenges in the identification and quantification of an unknown impurity in chenodeoxycholic acid drug substance.
Eur J Pharm Sci
December 2024
Department of Pharmacy and Clinical Pharmacology, Amsterdam UMC, Meibergdreef 9 1105 AZ, Amsterdam, The Netherlands; Platform Medicine for Society, Amsterdam UMC, Meibergdreef 9 1105 AZ, Amsterdam, The Netherlands.
In 2018 the Amsterdam University Medical Centre decided to prepare chenodeoxycholic acid (CDCA) capsules (also known as pharmacy compounding) for patients with the genetic metabolic disease cerebrotendinous xanthomatosis (CTX) when the product with a marketing authorization was commercially unavailable for patients. However, after reanalysis, unknown impurities were identified in the CDCA active pharmaceutical ingredient (API) using thin-layer chromatography from the European Pharmacopoeia (Ph.Eur.
View Article and Find Full Text PDFSevere Xanthogranulomatous prostatitis mimicking prostate cancer: a case report.
J Med Case Rep
December 2024
College of Medicine, Sulaiman AlRajhi University, Albukayriyah, Qassim, Saudi Arabia.
Article Synopsis
Polyneuropathy in Cerebrotendinous Xanthomatosis: Diagnostic Challenges and Potential for Therapeutic Intervention.
Brain Sci
November 2024
Division of Neurology, Department of Clinical Medicine, Federal University of Ceará, Fortaleza 60430-372, Ceara, Brazil.
Article Synopsis
Biochemical exploration of cholestasis: interpretation, traps and interferences.
Clin Biochem
November 2024
Biochemistry Laboratory, CHU Pontchaillou, Rennes, France; Univ Rennes, CHU Rennes, INSERM, EHESP, IRSET (Institut de Recherche en Santé, Environnement et Travail) UMR_S 1085, F-35000 Rennes, France. Electronic address:
We described the case of a 33-year-old patient who presented to the emergency department with non-febrile jaundice associated with epigastric pain. He suffered from acute non-severe alcoholic hepatitis and cholestasis. Biochemical investigations highlighted a huge elevation of the alpha-1-globulins fraction with an unexpected peak in the alpha-1-globulins area in serum protein electrophoresis, a severe hypercholesterolemia without xanthelasmas nor cholesterolomas.
View Article and Find Full Text PDFA sterol panel for rare lipid disorders: sitosterolemia, cerebrotendinous xanthomatosis, and Smith-Lemli-Opitz syndrome.
J Lipid Res
November 2024
Lipid Clinic, Oslo University Hospital, Aker, Oslo, Norway; Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway.
Disease-specific sterols accumulate in the blood of patients with several rare lipid disorders. Biochemical measurement of these sterols is important for correct diagnosis and sometimes monitoring of treatment. Existing methods to measure sterols in blood, particularly plant sterols, are often laborious and time consuming.
View Article and Find Full Text PDFThe clinical and demographic characteristics of patients with late-diagnosed cerebrotendinous xanthomatosis in a Turkish population.
J Clin Lipidol
August 2024
Department of Medical Genetics, Faculty of Medicine, Dicle University, Diyarbakır, Turkey (Drs Tekes).
Aim: The aim of this study was to examine the clinical, laboratory and demographic characteristics of patients diagnosed with cerebrotendinous xanthomatosis.
Materials And Methods: This study included 11 patients followed up in the Paediatric Metabolism Polyclinic for a diagnosis of CTX. The diagnosis of CTX was made from high blood cholestanol level and CYP27A1 gene analysis.
Sleep disorders in cerebrotendinous xanthomatosis: A case series.
Sleep Med
December 2024
Deparment of Neurology, Federal University of Ceara, Fortaleza, Ceara, Brazil. Coronel Nunes de Melo St., 1142, Rodolfo Teofilo, Fortaleza, Ceara, 60416-000, Brazil; Centro Universitário Christus, Fortaleza, Ceara, Brazil. Dom Luís Ave., 911, Fortaleza, Ceara, 60160-230, Brazil.
Article Synopsis
- Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder causing various neurological issues, including balance problems and sleep disturbances.
- A recent study examined sleep patterns in four CTX patients, revealing significant issues like insomnia and excessive daytime sleepiness.
- This study is the first to consider sleep assessments in CTX management, highlighting the need for more research on how cholestanol deposits may affect sleep-related brain functions.
Aesthetic Surgical Treatment of Large Xanthelasma palpebrarum.
Aesthetic Plast Surg
October 2024
Department of Plastic and Reconstructive Surgery, The First Affiliated Hospital of Wannan Medical College, Wuhu, Anhui Province, People's Republic of China.
Background: Xanthelasma palpebrarum (XP) is a common eyelid condition. Various treatment modalities exist, each with its own merits and drawbacks. Managing larger lesions poses increased challenges.
View Article and Find Full Text PDFGolden palms: Xanthoma striatum palmare: An illustrative image of an uncommon finding in a quotidian setting.
J Dermatol
November 2024
Universidad El Bosque, Bogotá, Colombia.
Xanthelasma and arginine vasopressin deficiency (central diabetes insipidus), think Erdheim Chester disease.
BMJ Case Rep
October 2024
Department of Medicine, Ottawa Hospital, Ottawa, Ontario, Canada
Xanthogranulomatous osteomyelitis of pubic bone mimicking neoplasm: a case report and literature review.
BMC Musculoskelet Disord
October 2024
Department of Orthopedic Surgery, College of Medicine, Chung-Ang University Hospital, Chung-Ang University, Seoul, Republic of Korea.
Article Synopsis
- - Xanthogranulomatous osteomyelitis (XO) is a rare bone disease that appears as an osteolytic lesion, and it's crucial to distinguish it from other similar conditions like bone tumors.
- - A 23-year-old woman presented with pelvic pain and febrile episodes, leading to the discovery of an osteolytic lesion in the pubic bone, which was later confirmed to be caused by an Aspergillus fungal infection after surgical removal.
- - This case highlights the importance of considering fungal infections in XO cases and suggests that specific antifungal treatments should be included in the management plan, as XO can occur due to such infections despite being predominantly associated with bacteria.
Corrigendum: Frontier and hotspot evolution in cerebrotendinous xanthomatosis: a bibliometric analysis from 1993 to 2023.
Front Neurol
September 2024
Department of Pediatrics, Affiliated Hospital of Nanjing University of Chinese Medicine, Nanjing, China.
Article Synopsis
- The text addresses a correction related to a previously published article with the DOI: 10.3389/fneur.2024.1371375.
- It aims to clarify errors or inaccuracies found in the original publication.
- The correction ensures the integrity and accuracy of the findings presented in the original article.
Gastric Nodule Turned Rare Gastric Xanthoma.
Cureus
August 2024
Internal Medicine, Nassau University Medical Center, East Meadow, USA.
Article Synopsis
- Gastric nodules, commonly found in endoscopic procedures, can occasionally be xanthomas, rare lipid-filled lesions, as illustrated in a case involving a 50-year-old male patient.
- The patient presented with symptoms related to gastroesophageal reflux disease (GERD), leading to an esophagogastroduodenoscopy (EGD) that revealed mild gastritis and xanthelasma.
- Although xanthomas in the gastrointestinal tract are rare and typically benign, they can resemble malignancies, necessitating further investigation and management.
A rare case of Erdheim Chester disease.
Radiol Case Rep
December 2024
Central Unit of Radiology, University Hospital Center Ibn Rochd, School of Medicine and Pharmacy of Casablanca, Hassan II University, Casablanca, Morocco.
Article Synopsis
- Erdheim-Chester disease (ECD) is a rare condition classified as non-Langerhans cell histiocytosis, with limited cases documented in literature.
- A 53-year-old patient exhibited symptoms including xanthelasma (skin lesions), extreme fatigue, loss of appetite, and chronic breathing difficulties over five years.
- Imaging scans revealed significant signs of ECD, and a biopsy solidified the diagnosis, emphasizing the need for radiologists to recognize ECD signs to prevent misdiagnosis.
Validation of physical examinations of tendon xanthomas and changes in the cutoff values of Achilles tendon thickness on radiography in the clinical criteria of heterozygous familial hypercholesterolemia in Japan.
J Clin Lipidol
November 2024
Department of Cardiovascular Medicine, Graduate School of Medical Sciences, Kanazawa University, Kanazawa, Japan (Drs Tada, Usui, Sakata, and Takamura).
Article Synopsis
- - The modified 2022 Japan Atherosclerosis Society criteria for familial hypercholesterolemia (FH) changed the Achilles tendon thickness (ATT) cutoff values, lowering them for both men and women compared to previous standards.
- - A study of 872 FH patients revealed that those with ATT between the new cutoffs had a significantly higher rate of positive FH mutations (55.9%) compared to the lowest ATT group (14.0%).
- - The findings suggest that the updated ATT criteria more accurately identify FH cases, highlighting the risk of underdiagnosing FH when relying solely on physical examinations for tendon xanthomas.
A scoring-based clinical grading model for xanthelasma palpebrarum: predicting treatment frequency and prognosis.
Arch Dermatol Res
September 2024
Department of Plastic and Reconstructive Surgery, East Hospital, Affiliated to Tongji University, No. 150, Jimo Road, Pudong New District, Shanghai, China.
Article Synopsis
- Xanthelasma palpebrarum is a common skin condition characterized by yellowish lesions, and while there are treatment options, they often face issues with recurrence and frequency.
- Researchers created a clinical scoring system based on the local injection of pingyangmycin, aimed at predicting treatment outcomes for patients with this condition.
- The study analyzed 246 patient cases and identified key risk factors, using statistical models to validate a new grading system that has shown promise for improving treatment approaches in future clinical practice.
Prompt Cytopathological Diagnosis of Multiple Xanthomatous Skin Nodules in an Adolescent Girl Opening the Doors to Detection of Familial Hypercholesterolemia.
Fetal Pediatr Pathol
September 2024
Department of Pathology, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India.
Article Synopsis
- Xanthomas are benign, yellow, soft skin lesions made up of fat-laden immune cells, often indicating underlying lipid issues in the body.
- A 13-year-old girl had large, painless nodules on her elbows and knees for five years, and tests revealed a family history of similar lesions with abnormal lipid levels.
- The case emphasizes the need for early diagnosis of xanthomas to prevent serious health problems like heart disease and strokes in young patients.
Carbon dioxide laser excision as a novel treatment for large xanthelasma palpebrarum: long-term efficacy and safety.
Br J Ophthalmol
September 2024
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology Visual Science, Guangdong Provincial Clinical Research Center for Ocular Diseases, Guangzhou, China
Article Synopsis
- - This study investigates the safety and effectiveness of CO₂ laser excision as a treatment for large xanthelasma palpebrarum in 295 patients, who were followed for one year after the procedure.
- - Results showed over 99% clearance for most cases, with a 6.8% recurrence rate, particularly higher in lesions larger than 2 mm; reported complications included minor issues like scarring and skin discoloration.
- - The findings suggest that CO₂ laser excision is a precise and minimally invasive option for treatment, although more research is needed to enhance treatment approaches.
Erdheim-Chester Disease Presenting as Bilateral Facial Masses: A case report and review of literature.
Sultan Qaboos Univ Med J
August 2024
Department of Pathology, Oman Dental College, Muscat, Oman.
Article Synopsis
- * A 49-year-old woman in Oman experienced recurring facial masses and developed additional health issues, including infertility and diabetes insipidus, over a 10-year period.
- * Biopsy results revealed distinct features of ECD, and this case is notable as it appears to be the first reported instance of ECD in Oman; the patient is currently stable and under observation.
Genetic Aspects of Necrobiotic Xanthogranuloma.
JAMA Dermatol
October 2024
Department of Dermatology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Cholecystoappendiceal fistula associated with xanthogranulomatous cholecystitis.
BMJ Case Rep
August 2024
Department of General Surgery, Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK.
Article Synopsis
- Xanthogranulomatous cholecystitis is a rare chronic inflammatory condition of the gallbladder that can lead to serious complications like perforation and fistulas.
- A young female patient experienced recurrent cholecystitis and had a history of jaundice due to gallstones, leading to a required elective surgery after her initial admission.
- During laparoscopic surgery, significant complications and abnormalities were found, highlighting the importance of timely surgeries to prevent more severe issues in patients with acute cholecystitis.
Cardiovascular Risk Factors Predicting Cardiovascular and Cancer Deaths in a Middle-Aged Population Followed-Up for 61 Years until Extinction.
J Cardiovasc Dev Dis
August 2024
Department of Structural Engineering, Sapienza University of Rome, 00185 Rome, Italy.
Article Synopsis
- The study investigated the links between cardiovascular risk factors and mortality from cancer and cardiovascular diseases in a group of 1,611 middle-aged men over a 61-year period.
- Researchers used Cox proportional hazard models to analyze 28 risk factors measured in 1960, correlating them with occurrences of cancer and cardiovascular deaths.
- Findings revealed that while some factors like age and smoking were significant predictors for both types of mortality, many traditional cardiovascular risk factors did not predict cancer death in this cohort.