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Lipomatosis

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https://www.readbyqxmd.com/read/28099616/do-you-know-this-syndrome-type-2-benign-symmetric-lipomatosis-launois-bensaude
#1
Ana Cláudia Cavalcante Esposito, Tania Munhoz, Luciana Patrícia Fernandes Abbade, Hélio Amante Miot
A 57-year-old female showed bulky, loose tumors, which progressively spread to her arms, anterior chest, and back. She reported dysphagia and dyspnea after mild exertion. She denied alcohol consumption. CT scan of her chest showed no internal lesions. Benign symmetric lipomatosis is a rare syndrome, clinically described as multiple nonencapsulated lipomas of various sizes and symmetrical distribution. This syndrome has three known phenotypes; in type 2 (Launois-Bensaude syndrome), lesions occur primarily on the shoulders, upper arms, and chest, and is unrelated to alcoholism...
November 2016: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28057454/infiltrating-lipomatosis-of-the-face-case-series-and-literature-review
#2
Marianna Sampaio Serpa, Crispian Scully, Ana Paula Molina Vivas, Oslei Paes de Almeida, Felipe D'Almeida Costa, Fábio Abreu Alves
Infiltrating lipomatosis of the face is a rare disorder in which mature adipocytes infiltrate tissues, leading to facial asymmetry. We present three cases, emphasizing their clinical and imaging features. In two of our cases, typical clinical features of infiltrating lipomatosis of the face were observed, including enlargement of cheek and bones, as well as early tooth eruption. The other case stood out because of its uncommon clinical presentation: presenting with hemimacroglossia, ipsilateral submandibular gland enlargement, and papillomatosis on the dorsum of the tongue...
October 15, 2016: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/28018467/a-rare-case-of-dysembryoplastic-neuroepithelial-tumor-combined-with-encephalocraniocutaneous-lipomatosis-and-intractable-seizures
#3
Jee-Yeon Han, Mi-Sun Yum, Eun-Hee Kim, Seokho Hong, Tae-Sung Ko
Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndrome that affects ectomesodermal tissues (skin, eyes, adipose tissue, and brain). The neurologic manifestations associated with ECCL are various including seizures. However, ECCL patients very rarely develop brain tumors that originate from the neuroepithelium. This is the first described case of ECCL in combination with dysembryoplastic neuroepithelial tumor (DNET) that presented with intractable seizures. A 7-year-old girl was admitted to our center because of ECCL and associated uncontrolled seizures...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/27999457/demographic-characteristics-anatomical-distribution-and-clinical-presentations-of-lipomatosis-tumors-arising-from-hand-and-wrist
#4
Adviye Ergun, Aslan Akin, Mehmet Sukru Sahin, Ali Kitis
The aim of this study is to analyze demographic characteristics, anatomical distribution, and clinic presentations of the lipomatosis masses in hand and wrist. The hand and wrist magnetic resonance (MR) images of 2,453 patients were evaluated retrospectively. Nineteen cases were included in the study that is seen fat component in mass in MR images. Patients' age, sex, and clinical symptoms were noted. The size and the localization area of the mass were evaluated. Ordinary lipomas were detected in 18 (95%) patients, and fibrolipomatous hamartoma of the median nerve was detected in 1 patient (5%)...
December 2016: Journal of Hand and Microsurgery
https://www.readbyqxmd.com/read/27990391/encephalocraniocutaneous-lipomatosis-haberland-syndrome-a-rare-case-report
#5
Ashish Jagati, Bela J Shah, Rima Joshi, Trusha Gajjar
Haberland syndrome or Fishman syndrome also known as encephalocraniocutaneous lipomatosis (ECCL) is a rare, congenital neurocutaneous disorder. It is characterized by unilateral involvement of skin, eyes and central nervous system. We report the case of a 28-year-old woman who presented with soft lipomatous swelling over right temporal area with nonscarring alopecia of part of frontal and parietal region. The patient had a history of seizures and ipsilateral scleral dermoid. Computed tomography scan findings were suggestive of lipomas and calcification of falx...
November 2016: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/27929598/sclerotic-effect-of-oxytetracycline-on-the-submandibular-gland-an-experimental-model
#6
Oğuz Güçlü, Asli Muratli, Deniz Arik, Kazım Tekin, Halil Erdogan, Fevzi Sefa Dereköy
Oxytetracycline has been suggested as an alternate therapy for chronic recurrent sialadenitis and sialorrhea. We conducted an experimental study to investigate the sclerotic effect of this drug on the submandibular gland by histopathologic methods. Our subjects were 20 New Zealand white rabbits, which were divided into two groups of 10. The right submandibular gland of the rabbits in the active-treatment group was injected with 0.3 ml of oxytetracycline (100 mg/ml), and that of the controls was injected with saline...
December 2016: Ear, Nose, & Throat Journal
https://www.readbyqxmd.com/read/27884011/gastroduodenal-lipomatosis-in-the-familial-multiple-lipomatosis
#7
Aleksandra Djuric-Stefanovic, Keramatollah Ebrahimi, Jelena Sisevic, Djordjije Saranovic
No abstract text is available yet for this article.
November 24, 2016: Medical Principles and Practice: International Journal of the Kuwait University, Health Science Centre
https://www.readbyqxmd.com/read/27882508/regional-early-development-and-eruption-of-permanent-teeth-case-report
#8
A M Al Mullahi, A Bakathir, S Al Jahdhami
BACKGROUND: Early development and eruption of permanent teeth are rarely reported in scientific literature. Early eruption of permanent teeth has been reported to occur due to local factors such as trauma or dental abscesses in primary teeth, and in systemic conditions. Congenital diffuse infiltrating facial lipomatosis (CDIFL) is a rare condition that belongs to a group of lipomatosis tumours. In this disorder, the mature adipocytes invade adjacent soft and hard tissues in the facial region...
November 23, 2016: European Archives of Paediatric Dentistry: Official Journal of the European Academy of Paediatric Dentistry
https://www.readbyqxmd.com/read/27882255/tip-of-an-iceberg-skull-fracture-as-an-adult-presentation-of-encephalocraniocutaneous-lipomatosis
#9
Sinead Culleton, Christen D Barras, Hamed Asadi, Seamus Looby, Paul Brennan, Hong Kuan Kok
The severity of seizures presenting to the emergency department ranges from benign to life threatening. There are also a wide number of possible etiologies. Computed tomography (CT) emergency imaging may be required at presentation to elucidate a possible cause and assess signs of intracranial trauma. This case describes a serious seizure episode in a young man while on holiday. A CT brain showed a skull fracture as a consequence of seizure-related head trauma but unexpectedly there were image findings consistent with encephalocraniocutaneous lipomatosis...
2016: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/27866258/fat-containing-soft-tissue-masses-in-children
#10
REVIEW
Elizabeth F Sheybani, Eric P Eutsler, Oscar M Navarro
The diagnosis of soft-tissue masses in children can be difficult because of the frequently nonspecific clinical and imaging characteristics of these lesions. However key findings on imaging can aid in diagnosis. The identification of macroscopic fat within a soft-tissue mass narrows the differential diagnosis considerably and suggests a high likelihood of a benign etiology in children. Fat can be difficult to detect with sonography because of the variable appearance of fat using this modality. Fat is easier to recognize using MRI, particularly with the aid of fat-suppression techniques...
December 2016: Pediatric Radiology
https://www.readbyqxmd.com/read/27862896/homozygous-lipe-mutation-in-siblings-with-multiple-symmetric-lipomatosis-partial-lipodystrophy-and-myopathy
#11
Sagit Zolotov, Chao Xing, Riad Mahamid, Adel Shalata, Mohammed Sheikh-Ahmad, Abhimanyu Garg
Despite considerable progress in identifying causal genes for lipodystrophy syndromes, the molecular basis of some peculiar adipose tissue disorders remains obscure. In an Israeli-Arab pedigree with a novel autosomal recessive, multiple symmetric lipomatosis (MSL), partial lipodystrophy and myopathy, we conducted exome sequencing of two affected siblings to identify the disease-causing mutation. The 41-year-old female proband and her 36-year-old brother reported marked accumulation of subcutaneous fat in the face, neck, axillae, and trunk but loss of subcutaneous fat from the lower extremities and progressive distal symmetric myopathy during adulthood...
January 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27842669/acoustic-radiation-force-impulse-shear-wave-elastography-arfi-of-acute-and-chronic-pancreatitis-and-pancreatic-tumor
#12
COMPARATIVE STUDY
Ruediger S Goertz, Johanna Schuderer, Deike Strobel, Lukas Pfeifer, Markus F Neurath, Dane Wildner
INTRODUCTION: Acoustic Radiation Force Impulse (ARFI) elastography evaluates tissue stiffness non-invasively and has rarely been applied to pancreas examinations so far. In a prospective and retrospective analysis, ARFI shear wave velocities of healthy parenchyma, pancreatic lipomatosis, acute and chronic pancreatitis, adenocarcinoma and neuroendocrine tumor (NET) of the pancreas were evaluated and compared. MATERIAL AND METHODS: In 95 patients ARFI elastography of the pancreatic head, and also of the tail for a specific group, was analysed retrospectively...
December 2016: European Journal of Radiology
https://www.readbyqxmd.com/read/27805346/mediastinal-lipomatosis-with-dyslipidemia-cause-of-dyspnea
#13
Aradhana Singh
We report a case who presented to us with dyspnea and was found to have ML in the absence of steroid use, diabetes, Cushing syndrome and obesity. This case provides an important differential diagnosis in a patient presenting with dyspnea widened mediastinum and cardiomegaly. This is probably among very few cases of ML with dyslipidemia.
November 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27798096/chronic-pancreatitis-and-lipomatosis-are-associated-with-defective-function-of-ciliary-genes-in-pancreatic-ductal-cells
#14
Cécile Augereau, Louis Collet, Pierfrancesco Vargiu, Carmen Guerra, Sagrario Ortega, Frédéric P Lemaigre, Patrick Jacquemin
Genetic diseases associated with defects in primary cilia are classified as ciliopathies. Pancreatic lesions and ductal cysts are found in patients with ciliopathic polycystic kidney diseases suggesting a close connection between pancreatic defects and primary cilia. Here we investigate the role of two genes whose deletion is known to cause primary cilium defects, namely Hnf6 and Lkb1, in pancreatic ductal homeostasis. We find that mice with postnatal duct-specific deletion of Hnf6 or Lkb1 show duct dilations...
October 7, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27773124/diffuse-lipomatosis-and-amyloid-deposition-of-the-thyroid-gland-associated-with-poorly-differentiated-insular-carcinoma-of-the-thyroid-report-of-a-rare-entity
#15
Nilani Liyanaarachchi, Aijye Lim, Eric Donaldson
No abstract text is available yet for this article.
February 2016: Pathology
https://www.readbyqxmd.com/read/27771601/r-gas-under-diaphragm
#16
Maddibande Ramachar Sreevathsa, Khyati Melanta
INTRODUCTION: The most common cause of gas under diaphragm is hollow viscous perforation. In 10% of cases it can be due to rare causes, both abdominal and extra-abdominal, one of them being intra abdominal infection by gas forming organisms. PRESENTATION OF THE CASE: A 51 year old male patient, a poorly controlled diabetic, presented with a second episode of severe pain abdomen and abdominal distention, with lower abdominal tenderness. Plain Xray of the abdomen in erect posture showed gas under the right dome of diaphragm and ultrasound abdomen confirmed gross pneumoperitoneum...
October 14, 2016: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/27718083/intestinal-lipomatosis-and-chemotherapy-a-growing-concern
#17
S Hu, Amirkaveh Mojtahed, A Covington, W Thompson, N Volpicelli, Denis McCarthy
No abstract text is available yet for this article.
November 2016: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/27703677/significant-antitumor-response-of-disseminated-glioblastoma-to-bevacizumab-resulting-in-long-term-clinical-remission-in-a-patient-with-encephalocraniocutaneous-lipomatosis-a-case-report
#18
Raita Fukaya, Masatoki Ozaki, Dai Kamamoto, Yukina Tokuda, Tokuhiro Kimura, Masahito Fukuchi, Koji Fujii
The prognosis of recurrent and disseminated glioblastoma is very poor. Bevacizumab is an effective established therapy for recurrent glioblastoma following treatment with radiotherapy plus temozolomide. However, the efficacy of bevacizumab is limited to prolonging progression-free survival, without significant prolongation of the overall survival. We herein report a case of glioblastoma in a 32-year-old female patient with encephalocraniocutaneous lipomatosis (ECCL) that had disseminated following surgical resection and subsequent treatment with temozolomide and radiation therapy...
October 2016: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/27683700/scoliosis-associated-with-idiopathic-lumbosacral-epidural-lipomatosis
#19
Seong Rok Han
There are very few reports of spinal epidural lipomatosis (SEL) in association with scoliosis. A 49-year-old man presented with persistent back pain and right hip lump. The lumbar spine X-rays showed scoliosis (Lenke classification 5BN). Lumbar MRI demonstrated circumferential epidural fat deposit from L1 to lower S2 level. There was no obvious etiology of SEL except mild increased body mass index (BMI). The patient was managed with conservative treatment. After 6 months medication (limaprost and ginkgo), his symptoms were relieved...
March 2016: Journal of Spine Surgery (Hong Kong)
https://www.readbyqxmd.com/read/27679730/is-a-fatty-pancreas-a-banal-lesion
#20
REVIEW
Andrzej Smereczyński, Katarzyna Kołaczyk
So far, a fatty pancreas has been related to obesity and the ageing processes in the body. The current list of pathogenetic factors of the condition is clearly extended with genetically conditioned diseases (cystic fibrosis, Shwachman-Diamond syndrome and Johanson-Blizzard syndrome), pancreatitis, especially hereditary and obstructive, metabolic and hormonal disorders (hypertriglyceridemia, hypercholesterolemia, hyperinsulinemia and hypercortisolemia), alcohol overuse, taking some medicines (especially adrenal cortex hormones), disease of the liver and visceral adiposis...
September 2016: Journal of Ultrasonography
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