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https://www.readbyqxmd.com/read/28738431/results-of-arthroscopic-synovectomy-for-treatment-of-synovial-lipomatosis-lipoma-arborescens-of-the-knee
#1
Melih Malkoc, Özgur Korkmaz
No abstract text is available yet for this article.
July 24, 2017: Journal of Knee Surgery
https://www.readbyqxmd.com/read/28710985/spinal-cord-compression-secondary-to-idiopathic-thoracic-epidural-lipomatosis-in-an-adolescent-a-case-report-and-review-of-literature
#2
Rumaiza Al-Yafeai, Yazid Maghrabi, Hussein Malibary, Saleh Baeesa
INTRODUCTION: Spinal epidural lipomatosis (SEL) is a rare condition that presents with progressive spinal cord or nerve root compression. It is commonly reported in patients receiving long-term exogenous steroid therapy or in patients with endogenous steroid overproduction. The occurrence of this condition as an idiopathic entity is rarely reported. CASE PRESENTATION: The authors present the clinical course and outcome of a 16-year-old male student, who presented with progressive spastic paraparesis of a one-year duration caused by idiopathic spinal epidural lipomatosis...
July 6, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28707961/encephalocraniocutaneous-lipomatosis-a-case-report-with-review-of-literature
#3
Shaista Siddiqui, Shazia Naaz, Mehtab Ahmad, Zafar Ahmad Khan, Shagufta Wahab, Basmah Abdur Rashid
Encephalocraniocutaneous lipomatosis (ECCL) or Haberland syndrome is an uncommon sporadic neurocutaneous syndrome of unknown origin. The rarity and common ignorance of the condition often makes diagnosis difficult. The hallmark of this syndrome is the triad of skin, ocular and central nervous system (CNS) involvement and includes a long list of combination of conditions. Herein we report a case of a 5-month-old male child who presented to our centre with complaint of seizure. The patient had various cutaneous and ocular stigmatas of the disease in the form of patchy alopecia of the scalp, right-sided limbal dermoid and a nodular skin tag near the lateral canthus of the right eye...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28680030/multiple-symmetric-lipomatosis
#4
Bartosz Hudzik, Janusz Szkodziński, Mariusz Gąsior, Barbara Zubelewicz-Szkodzińska
No abstract text is available yet for this article.
June 30, 2017: Polish Archives of Internal Medicine
https://www.readbyqxmd.com/read/28665924/somatic-pik3ca-mutations-are-present-in-multiple-tissues-of-facial-infiltrating-lipomatosis
#5
Javier A Couto, Dennis J Konczyk, Matthew P Vivero, Harry P W Kozakewich, Joseph Upton, Xi Fu, Bonnie L Padwa, John B Mulliken, Matthew L Warman, Arin K Greene
BACKGROUND: Facial infiltrating lipomatosis (FIL) is a congenital disorder that causes overgrowth of one side of the face. The purpose of this study was to determine if PIK3CA mutations are present in tissues outside of the subcutaneous adipose. METHODS: FIL tissues from 3 patients were dissected to enrich for cells from skin, subcutaneous tissue, orbicularis oris muscle, buccal fat, zygomatic bone, and mucosal neuroma. Endothelial cells within affected tissue also were enriched using CD31-microbeads...
June 30, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28643398/multiple-symmetric-lipomatosis
#6
Samuel P Prahlow, Patrick Kosciuk, Joseph A Prahlow
A significant number of medicolegal deaths involve ethanol. Deaths may be related to the acute, intoxicating effects of ethanol, either in decedents or within persons responsible for causing the deaths of others. Additionally, deaths may be related to chronic alcoholism. A chronic alcoholic may display characteristic external features which allow an observer, such as a forensic pathologist or other physician, to conclude that he/she is probably an alcoholic. Herein, the authors report two decedents with a rare condition known as "multiple symmetric lipomatosis" (MSL), which has a strong correlation with chronic alcoholism...
June 23, 2017: Journal of Forensic Sciences
https://www.readbyqxmd.com/read/28630220/beyond-cervical-lipomas-myoclonus-gait-disorder-and-multisystem-involvement-leading-to-mitochondrial-disease
#7
Roberto López-Blanco, Ana Rojo-Sebastián, Maria Henedina Torregrosa-Martínez, Alberto Blazquez
Madelung's disease (benign symmetric lipomatosis) is a rare syndrome in which there are multiple lipomas around the neck, upper limbs and trunk in the context of chronic alcoholism. We report on a female patient with lipomas and slightly progressive myoclonus, neuropathy, myopathy, ataxia and respiratory systemic involvement (labelled in the past as Madelung's disease). Multisystem involvement and family history of lipomas led to the development of mitochondrial genetic tests, which can assess two concurrent mitochondrial mutations: the m...
June 19, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28612492/encephalocraniocutaneous-lipomatosis-with-wilms-tumor
#8
Çağrı Damar, Ayhan Yaman, Mehmet Ali İkidağ, Esra Pekpak, Asburçe Olgaç
No abstract text is available yet for this article.
June 14, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28602929/hereditary-multiple-cerebral-cavernous-malformations-associated-with-wilson-s-disease-and-multiple-lypomatosis-case-report
#9
Belousova Olga, Okishev Dmitry, Ignatova Tatyana, Balashova Maria, Boulygina Eugene
We report on the patient with two Mendelian diseases - symptomatic multiple familial cerebral cavernous malformations (FCCMs) and Wilson's disease. Genetic analysis revealed SNPs in genes CCM2 and CCM3, associated with cavernous malformations, and homozygote mutation in ATP7B gene, responsible for Wilson's disease. FCCMs were symptomatic in three generations. The patient had also multiple lipomatosis, which is suggested to be a familial syndrome. In recent years there has been an increasing amount of publications on the link of FCCMs with other pathology, predominantly with extracranial and intracranial mesenchymal anomalies...
June 8, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28580220/pancreatic-lipomatosis-in-cystic-fibrosis-rare-manifestation-of-an-uncommon-disease
#10
Harshal S Mandavdhare, Amit Kumar, Vishal Sharma, Surinder S Rana
Cystic fibrosis is deemed to be uncommon in India. The presentation is usually in the childhood although more cases are now being recognized in adolescence and adulthood. We report a case of an adolescent male who had been treated for recurrent pulmonary infections and received anti-tubercular therapy for a possible diagnosis of sputum negative pulmonary tuberculosis and was evaluated for steatorrhea. The presence of pancreatic exocrine insufficiency along with pancreatic lipomatosis suggested the diagnosis of cystic fibrosis...
May 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28577738/-pik3ca-related-overgrowth-syndrome-pros
#11
Quitterie Venot, Guillaume Canaud
This review presents an overview of a recently characterized spectrum of overgrowth syndrome: phosphoinositide-3 kinase (PI3K)-related overgrowth spectrum (PROS). This spectrum encompasses overgrowth syndromes associated with somatic mosaic activating PIK3CA mutations such as megalencephaly-capillary malformation (MCAP) syndrome, dysplatic megalencephaly (DMEG), congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies (CLOVES) syndrome, hemihyperplasia-multiple lipomatosis (HHML), fibroadipose overgrowth and Klippel-Trenaunay syndrome...
April 2017: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/28574232/a-heritable-microduplication-encompassing-tbl1xr1-causes-a-genomic-sister-disorder-for-the-3q26-32-microdeletion-syndrome
#12
Vera Riehmer, Florian Erger, Peter Herkenrath, Saskia Seland, Miriam Jackels, Alfred Wiater, Raoul Heller, Bodo B Beck, Christian Netzer
Recently, a new syndrome with intellectual disability (ID) and dysmorphic features due to deletions or point mutations within the TBL1XR1 gene located in the chromosomal band 3q26.32 has been described (MRD41, OMIM 616944). One recurrent point mutation in the TBL1XR1 gene has been identified as the cause of Pierpont syndrome (OMIM 602342), a distinct intellectual disability syndrome with plantar lipomatosis. In addition, different de novo point mutations in the TBL1XR1 gene have been found in patients with autism spectrum disorders (ASD) and intellectual disability...
June 2, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28553398/partial-encephalocraniocutaneous-lipomatosis-syndrome
#13
S Velusamy, S Sindhu Bharathi, B Krishnakumar
Encephalocranial lipomatosis is a rare disorder that characteristically involves ectomesodermal tissues such as skin, eye, and the central nervous system. Here, we report a 3-year-old girl presented with developmental delay, seizures, limbal dermoid, and weakness of right lower limb. Imaging revealed hemiatrophy, arachnoid cyst, and polymicrogyria. The constellation of clinical finding and imaging leads to the diagnosis.
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28536225/-the-dark-pancreas-classic-ct-appearance-of-total-pancreatic-lipomatosis
#14
Priyanka Naranje, Smita Manchanda
No abstract text is available yet for this article.
May 22, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28525374/the-effect-of-rapamycin-nvp-bez235-aspirin-and-metformin-on-pi3k-akt-mtor-signaling-pathway-of-pik3ca-related-overgrowth-spectrum-pros
#15
Yasuyo Suzuki, Yasushi Enokido, Kenichiro Yamada, Mie Inaba, Kumiko Kuwata, Naoki Hanada, Tsuyoshi Morishita, Seiji Mizuno, Nobuaki Wakamatsu
The phosphatidylinositol 3-kinase (PI3K)/AKT/mTOR signaling pathway is critical for cellular growth and metabolism. Recently, mosaic or segmental overgrowth, a clinical condition caused by heterozygous somatic activating mutations in PIK3CA, was established as PIK3CA-related overgrowth spectrum (PROS). In this study, we report a Japanese female diagnosed with PROS, who presented with hyperplasia of the lower extremities, macrodactyly, multiple lipomatosis, and sparse hair. Sequencing and mutant allele frequency analysis of PIK3CA from affected tissues revealed that the patient had a heterozygous mosaic mutation (c...
July 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28468226/characteristics-of-pediatric-cheek-mass
#16
Ye Seul Eom, So Young Lim
PURPOSE: Patients with cheek mass are often referred to our medical center's department of plastic surgery. Most patients with deep cheek mass have the characteristic of a slowly growing, painless mass. We reviewed the lesion's pathology of this complex anatomic area in the pediatric population, focusing on differential diagnosis and the recent surgical strategies. METHODS: We retrospectively reviewed 56 patients visiting our department from 2009 to 2016. Data analysis included the patients' lesion characteristics, clinical presentation, presumptive diagnosis, results of preoperative investigations, pathological diagnosis, and treatment details...
May 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28443241/massive-renal-replacement-lipomatosis-with-foci-of-xanthogranulomatous-pyelonephritis-in-a-horseshoe-kidney
#17
Harutake Sawazaki, Daiji Araki, Kazunori Miyata, Keiichi Ito
Renal replacement lipomatosis (RRL) is a rare condition that occurs at the end of the spectrum of renal tissue replacement by fat. Xanthogranulomatous pyelonephritis (XGP) is a granulomatous inflammation characterized by destruction of renal parenchyma and replacement by lipid-laden macrophages. We present the case of a 75-year-old man who complained of severe anemia 34 years after right nephrolithotomy. Computed tomography revealed a huge low-density mass with renal parenchyma atrophy on the right side of horseshoe kidney...
July 2017: Urology Case Reports
https://www.readbyqxmd.com/read/28438575/multiple-symmetric-lipomatosis-and-gynecomastia-a-case-report-and-relative-literature-review
#18
Meimei Tian, Yan Liu, Zhongji Zhi, Yukun Li
Multiple symmetric lipomatosis is a rare disease characterized by a symmetrical accumulation of massive adipose tissue on the neck, the superior part of the trunk, and limbs. Here, we reported an extremely rare case of multiple symmetric lipomatosis in a 46-year-old Chinese man, who has a history of heavy drinking and smoking and presented with diffuse lipomatosis and bilateral breast enlargement. Hyperuricemia and impaired glucose tolerance test were all found in this patient. A brief review of the literature was also made in this article...
March 30, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28437329/metastatic-spinal-cord-compression-and-steroid-treatment-a-systematic-review
#19
Abhishek Kumar, Michael H Weber, Ziya Gokaslan, Jean-Paul Wolinsky, Meic Schmidt, Laurence Rhines, Michael G Fehlings, Ilya Laufer, Daniel M Sciubba, Michelle J Clarke, Narayan Sundaresan, Jorrit-Jan Verlaan, Arjun Sahgal, Dean Chou, Charles G Fisher
STUDY DESIGN: Systematic review. OBJECTIVES: We conducted a systematic review of the literature to answer the following questions regarding the use of steroid therapy in metastatic spinal cord compression (MSCC): 1. In cases of MSCC, what is the effect of steroid administration before definitive radiotherapy or surgery on ambulatory status, bowel and bladder function and survival? 2. What steroid dosing regimens are associated with the best outcomes concerning neurological symptoms and complication prevention in cases of MSCC? SUMMARY OF BACKGROUND DATA: Currently, there is significant variation in the initial bolus dose, daily maintenance dose and duration of treatment when steroids are used as a bridge to definitive therapy for MSCC...
May 2017: Clinical Spine Surgery
https://www.readbyqxmd.com/read/28401074/proteus-syndrome-with-arteriovenous-malformation
#20
Ali Asilian, Atefeh Sadat Kamali, Nabet Tajmir Riahi, Neda Adibi, Fatemeh Mokhtari
Proteus syndrome is a rare sporadic disorder that appears with localized macrosomia, congenital lipomatosis, and slow flow vascular malformations, connective tissue nevus, and epidermal nevus. There are usually some manifestations at birth. The vascular abnormalities that have been reported in Proteus syndrome are capillary and slow flow venous malformation. We report a case of a 10-year-old boy with confirmed Proteus syndrome characterized by high flow vascular malformation (arteriovenous [AV] malformation) unlike the usual vascular malformations seen in this syndrome...
2017: Advanced Biomedical Research
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