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https://www.readbyqxmd.com/read/28901441/profiling-of-differentially-expressed-genes-in-adipose-tissues-of-multiple-symmetric-lipomatosis
#1
Ke Chen, Linghao Wang, Wenjun Yang, Changfa Wang, Gui Hu, Zhaohui Mo
Multiple symmetric lipomatosis (MSL) is a rare disorder characterized by aberrant multiple and symmetric subcutaneous adipose tissue accumulation in the face, neck, shoulders, back, chest and abdomen, severely affecting the quality of life of patients. At present, precise MSL etiology and pathogenesis remain to be elucidated. The present study first utilized a digital gene expression technique with a next‑generation sequencing platform to profile differentially expressed genes in three cases of MSL vs. normal control tissue...
September 7, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28898799/rare-diagnosis-of-intestinal-lipomatosis-complicated-by-intussusception-in-an-adult-a-case-report
#2
Kaitlin Kumar, Mahboub R Noori, Kishan M Patel, William Yuen, Carlos Bello
INTRODUCTION: Intestinal Lipomatosis consists of diffuse lipomas in various regions from the small to large bowel. They can remain asymptomatic or present with complications such as Intussusception. DISCUSSION: Intestinal lipomatosis complicated by Intussusception is a rare occurrence that has not been well documented. Rare condition management is difficult to approach because of the customizability each scenario requires. We hope through sharing our approach this can serve as a rough template to physicians who find themselves in a similar scenario...
September 1, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28893005/pleural-and-mediastinal-lipomatosis-with-subpleural-fat-as-a-mimicker-of-pleural-effusion-a-rare-case-report
#3
Navkiran Kaur, Jasvir Singh, Samrin Haq, Sugandha Garg, Simmi Bhatnagar
Subpleural and mediastinal lipomatosis are benign intrathoracic conditions discovered incidentally on plain chest radiographs. However, diagnosis is usually made by Computed Tomography (CT). A case of both mediastinal and pleural lipomatosis associated with use of steroids in a 58-year-old male patient presented with complaints of breathlessness and dry cough is discussed in this case report. Intially, pleural effusion and bilateral upper lobe patchy opacities were suspected as a cause of breathlessness on the basis of chest x-ray findings...
July 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28858184/idiopathic-spinal-epidural-fat-accumulation-is-associated-with-hyperlipidemia
#4
Shinichi Ishihara, Nobuyuki Fujita, Mitsuru Yagi, Takashi Tsuji, Takehiro Michikawa, Yuji Nishiwaki, Yasuyuki Fukui, Keisuke Horiuchi, Ken Ishii, Masaya Nakamura, Morio Matsumoto, Kota Watanabe
STUDY DESIGN: Single-center retrospective analysis of consecutively collected data. OBJECTIVES: To determine the clinical characteristics of idiopathic spinal epidural lipomatosis (SEL). SUMMARY OF BACKGROUND DATA: SEL is associated with the overt accumulation of nonencapsulated adipose tissue in the epidural space, leading to spinal cord or nerve root compression. The etiology of this condition is currently not completely understood. METHODS: Data of 166 male patients who underwent primary surgery for lumbar spinal canal stenosis (LSS) from May 2013 to February 2016 were retrospectively reviewed...
August 29, 2017: Spine
https://www.readbyqxmd.com/read/28846552/qualitative-and-quantitative-evaluation-of-structural-myocardial-alterations-by-grating-based-phase-contrast-computed-tomography
#5
Susan Notohamiprodjo, Nicole Webber, Lorenz Birnbacher, Marian Willner, Manuel Viermetz, Julia Herzen, Mathias Marschner, Doris Mayr, Harald Bartsch, Tobias Saam, Sigrid Auweter, Franz Pfeiffer, Maximilian F Reiser, Holger Hetterich
OBJECTIVES: Grating-based phase-contrast computed tomography (gb-PCCT) relies on x-ray refraction instead of absorption to generate high-contrast images in biological soft tissue. The aim of this study was to evaluate the potential of gb-PCCT for the depiction of structural changes in heart disease. MATERIALS AND METHODS: Four human heart specimens from patients with hypertensive disease, ischemic disease, dilated heart disease, and cardiac lipomatosis were examined...
August 25, 2017: Investigative Radiology
https://www.readbyqxmd.com/read/28846548/congenital-infiltrating-lipomatosis-of-the-face-case-report-and-literature-review
#6
Yatong Li, Guojing Chang, Loubin Si, Hailin Zhang, Xiaoyan Chang, Zhixiong Chen, Jiuzuo Huang, Ming Bai, Yang Wang, Xiao Long, Ru Zhao, Xiaojun Wang
RATIONALE: Congenital infiltrating lipomatosis of the face (CILF) is a rare disorder characterized by collections of nonencapsulated mature lipocytes that infiltrate surrounding tissues. In this article, we would report a new case of CILF, which may be one of the first few cases reported in China. PATIENT CONCERNS: An 8-year-old boy presented with a hyperplasia of subcutaneous tissue of his left face, which had been gradually progressing since birth, resulting in a marked facial asymmetry...
August 24, 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28816943/spinal-cord-compression-syndrome-caused-by-intraspinal-epidural-fibrous-cord-three-case-reports
#7
Yingjie Zhou, Xubin Chai, Huailiang Zheng, Renqian Song, Xiaofei Qin
RATIONALE: The spinal cord compression caused by intraspinal epidural fibrous cord. PATIENT CONCERNS: All patients in this study had spinal cord compression syndrome caused by an intraspinal epidural fibrous cord, manifested as abnormally increased epidural adipose tissue by imaging. DIAGNOSE: These abnormal fibrous connective tissue strips were not identical to the known pathological tissue such as "meningovertebral ligament." Instead, it might be a novel pathogenic cause for the spinal cord compression...
August 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28791992/-morphological-features-of-the-myocardium-of-the-atrial-appendages-in-patients-with-different-forms-of-atrial-fibrillation
#8
T V Sukhacheva, V A Vaskovsky, A Sh Revishvili, R A Serov
AIM: to analyze the morphological features of the myocardium of the atrial appendages in patients with different forms of atrial fibrillation (AF) and to compare the findings with the clinical parameters of patients. MATERIAL AND METHODS: Light and electron microscopies were used to examine the myocardium of the atrial appendages in adult patients with paroxysmal (PAF), persistent (PrAF), or long-standing persistent atrial fibrillation (LPAF) and in comparison group patients with sinus rhythm without history of AF...
2017: Arkhiv Patologii
https://www.readbyqxmd.com/read/28763116/urodynamic-characteristics-of-pelvic-lipomatosis-with-glandular-cystitis-patients-correlate-with-morphologic-alterations-of-the-urinary-system-and-disease-severity
#9
Yuke Chen, Yang Yang, Wei Yu, Yunxiang Xiao, Yu Fan, Jihong Duan, Yuan Tang, Jie Jin, Huihui Wang, He Wang, Sainan Zhu, Zhijun Xi, Shiliang Wu
AIMS: To explore urodynamic characteristics and their clinical value in pelvic lipomatosis (PL) patients. METHODS: We reviewed the clinical information of 84 PL patients. A voiding pressure-flow study was used to classify patients into nonoutlet obstruction (NOO), latter-half-section obstruction (LHSO), or whole-section bladder outlet obstruction (BOO) groups. Urinary morphologic features were measured by imaging examination and cystoscopy. RESULTS: A unique LHSO that presented as sudden increasing detrusor pressure (Pdet) and decreasing flow rate in the latter half of voiding was observed for 52...
August 1, 2017: Neurourology and Urodynamics
https://www.readbyqxmd.com/read/28756300/obesity-and-spinal-epidural-lipomatosis-in-cauda-equina-syndrome
#10
Duncan Cushnie, Jennifer C Urquhart, Kevin R Gurr, Fawaz Siddiqi, Christopher S Bailey
BACKGROUND CONTEXT: Although lumbar disc herniations are common, only a small portion of these herniations lead to cauda equina syndrome (CES) which is an uncommon but debilitating disorder. Why some patients with herniation develop CES, when most do not, remains unknown. Pre-existing subclinical epidural lipomatosis may limit canal space such that an otherwise benign herniation causes CES. PURPOSE: This study determines whether patients with an acute disc herniation and CES have a greater body mass index (BMI) and greater quantity of epidural fat compared to control subjects with non-CES symptomatic lumbar herniated discs...
July 26, 2017: Spine Journal: Official Journal of the North American Spine Society
https://www.readbyqxmd.com/read/28738431/results-of-arthroscopic-synovectomy-for-treatment-of-synovial-lipomatosis-lipoma-arborescens-of-the-knee
#11
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
#12
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...
2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28707961/encephalocraniocutaneous-lipomatosis-a-case-report-with-review-of-literature
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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-disease-and-multiple-lipomatosis
#19
Olga B Belousova, Dmitry N Okishev, Tatyana M Ignatova, Maria S Balashova, Eugenia S Boulygina
We report on a patient with 2 Mendelian diseases-symptomatic multiple familial cerebral cavernous malformations (FCCMs) and Wilson disease. Genetic analysis revealed single nucleotide polymorphisms in genes CCM2 and CCM3, associated with cavernous malformations, and homozygote mutation in the ATP7B gene, responsible for Wilson disease. FCCMs were symptomatic in 3 generations. The patient also had multiple lipomatosis, which is suggested to be a familial syndrome. In recent years there has been an increasing amount of publications linking FCCMs with other pathology, predominantly with extracranial and intracranial mesenchymal anomalies...
September 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28580220/pancreatic-lipomatosis-in-cystic-fibrosis-rare-manifestation-of-an-uncommon-disease
#20
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
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