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Satoshi Konno, Masahiko Shigemura, Takahiro Ogi, Kaoruko Shimizu, Masaru Suzuki, Kichizo Kaga, Yasuhiro Hida, Yoshihiro Matsuno, Masaharu Nishimura
BACKGROUND: Multifocal micronodular pneumocyte hyperplasia (MMPH) is a rare pulmonary manifestation of tuberous sclerosis complex (TSC). Because of its rarity, no previous study has described the detailed clinical course of this disease. OBJECTIVES: This study aimed to clarify the longitudinal clinical characteristics of subjects with MMPH. METHODS: Nine patients with MMPH diagnosed at Hokkaido University Hospital were retrospectively analyzed...
2018: Respiration; International Review of Thoracic Diseases
Shengyu Hao, Fei Long, Fenglan Sun, Teng Liu, Daowei Li, Shujuan Jiang
BACKGROUND: The Birt-Hogg-Dubé (BHD) syndrome is a very rare autosomal dominant form of genodermatosis caused by germline mutations in the folliculin (FLCN) gene, which is mapped to the p11.2 region in chromosome 17. BHD commonly presents cutaneous fibrofolliculomas, pulmonary cysts, renal cell carcinoma, and recurrent pneumothoraxes. The disease is easily ignored or misdiagnosed as pneumothorax, pulmonary lymphangiomyomatosis (LAM), or emphysema. Follow-up and guidelines for managing recurrent pneumothoraxes in these patients are lacking...
February 21, 2017: BMC Pulmonary Medicine
Naoe Jimbo, Takashi Nishigami, Masayuki Noguchi, Hiroko Iijima, Seiichi Hirota, Takuma Tajiri, Takeshi Inoue, Takanori Hirose, Tomoo Itoh, Yoh Zen
The fusion or amplification of TFE3 has been identified as one of the molecular events underlying tumorigenesis in perivascular epithelioid cell tumors (PEComas). TFE3 rearrangements in PEComas are related to the morphological features of the epithelioid appearance and weaker expression of immunohistochemical muscular markers. This study aimed to clarify whether these genetic alterations are involved in hepatic angiomyolipomas (AMLs), which are a member of the PEComa tumor family. We examined 28 liver specimens (15 biopsies and 13 surgical specimens) of hepatic AMLs obtained from 26 patients...
March 2017: Human Pathology
Samy L Habib, Noor Y Al-Obaidi, Maciej Nowacki, Katarzyna Pietkun, Barbara Zegarska, Tomasz Kloskowski, Wojciech Zegarski, Tomasz Drewa, Edward A Medina, Zhenze Zhao, Sitai Liang
Tuberous sclerosis complex (TSC) is an autosomal dominant and multi-system genetic disorder in humans. TSC affects around 25,000 to 40,000 individuals in the United States and about 1 to 2 million individuals worldwide, with an estimated prevalence of one in 6,000 newborns. TSC occurs in all races and ethnic groups, and in both genders. TSC is caused by defects or mutations in two genes, TSC1 and TSC2. Loss of TSC1/TSC2 leads to dysregulation of mTOR, resulting in aberrant cell differentiation and development, and abnormal enlargement of cells...
2016: Journal of Cancer
Francesco Pichi, Domenico Massaro, Massimiliano Serafino, Paola Carrai, Gian P Giuliari, Carol L Shields, Chiara Veronese, Antonio P Ciardella, Paolo Nucci
PURPOSE: To propose a classification of retinal astrocytic hamartoma based on spectral domain optical coherence tomography and correlate each class with systemic manifestations of tuberous sclerosis complex. METHODS: Retrospective chart review conducted at four international referral medical retina centers. There were 43 consecutive patients with an established diagnosis of tuberous sclerosis complex based on presence of at least 2 major or 1 major and 2 minor features of the diagnostic criteria...
June 2016: Retina
M C Castoldi, A Verrioli, E De Juli, A Vanzulli
OBJECTIVES: Pulmonary Langerhans cell histiocytosis (PLCH) is a rare interstitial granulomatous disease that usually affects young adults who are smokers. Chest computed tomography (CT) allows a confident diagnosis of PLCH only in typical presentation, when nodules, cavitated nodules and cysts coexist and predominate in the upper and middle lungs. METHODS: This article includes a pictorial essay of typical and atypical presentations of PLCH at initial chest CT. Various appearances of PLCH are illustrated and possible differential diagnosis is discussed...
August 2014: Insights Into Imaging
Vishakha V Jain, O P Gupta, Sumedh Jajoo, Benjamin Khiangate
Lymphangiomyomatosis (LAM) is a rare cystic interstitial lung disease that exclusively affects women of child bearing age and is associated with vascular proliferation of smooth muscle cells in the lung. We report a case of young female with pulmonary LAM presenting with recurrent pneumothorax.
January 2014: Journal of Family Medicine and Primary Care
Jeng-Dau Tsai, Chang-Ching Wei, Shan-Ming Chen, Ko-Huang Lue, Ji-Nan Sheu
PURPOSE: Renal manifestations of tuberous sclerosis complex (TSC) occur with a high frequency and a wide range of severity. The onset and complications of each affected organ depend on the age. This study aimed to investigate the associations between comorbidities, frequency, and size of cysts/angiomyolipomas of TSC and the patients in the different ages. METHODS: We performed a systematic evaluation of patients with TSC at integrated clinics for TSC. The patients were diagnosed with TSC according to Roach's clinical diagnostic criteria...
September 2014: International Urology and Nephrology
Rebecca Akkermans
No abstract text is available yet for this article.
August 2013: Lancet Respiratory Medicine
Eleni Ieremia, Alistair Robson
PEComa is a mesenchymal neoplasm thought to derive from the perivascular epithelioid cell, a hypothetical cell type not yet identified. PEComa is a broad term that was recently expanded to include visceral, retroperitoneal, and somatic soft tissue, in addition to cutaneous tumors, which share morphological and immunohistochemical features in common with angiomyolipoma, lymphangiomyomatosis, and clear cell "sugar" tumor. The latter have distinct, site-related, clinical, morphological, and biological features...
December 2014: American Journal of Dermatopathology
Wen-yun Ting, Yu-shi Zhang, Han-zhong Li, Xue-bin Zhang, Wei-feng Xu
OBJECTIVE: To explore the diagnosis and treatment of tuberous sclerosis complex complicated with renal angiomyolipoma. METHODS: The clinical data of 22 patients with tuberous sclerosis complex complicated with renal angiomyolipoma were analyzed retrospectively. RESULTS: There were 12 males and 10 females with a mean age of 23 (1-46) years. All of them had bilateral multiple renal angiomyolipomas. The mean tumor size was 8.5 (0.7-18.0) cm in diameter...
July 9, 2013: Zhonghua Yi Xue za Zhi [Chinese medical journal]
E Bastu, S E Akhan, B Karamustafaoglu, F Gungor-Ugurlucan, H Sozen, A C Iyibozkurt
Lymphangiomyomatosis (LAM) is a rare and systemic disease that is characterized by the abnormal proliferation of smooth muscle-like cells in the lungs and along the axial lymphatic system. The authors herein present a rare case of LAM that was treated with long-term use of leuprolide acetate, a gonadotropin-releasing hormone analogue (GnRHa).
2013: European Journal of Gynaecological Oncology
Delphine Mitilian, Edouard Sage, Philippe Puyo, Pierre Bonnette, François Parquin, Marc Stern, Marc Fischler, Alain Chapelier
OBJECTIVES: We report our experience of lobar lung transplantations (LLTs) in patients with small thoracic volume. METHODS: Since 1988, 50 LLTs were done for cystic fibrosis (n=35), fibrosis (n=7), bronchiectasis (n=3), emphysema (n=3) and lymphangiomyomatosis (n=2). There were 44 females and 6 males (mean age 31±13 years, mean size 155±5.5 cm and mean predicted total lung capacity (TLC) 4463±598 ml). Mean ratio between donor and recipient-predicted TLC was 1...
February 2014: European Journal of Cardio-thoracic Surgery
Koko Adachi, Shin Kurosawa, Toshihiro Wagatsuma, Yoko Yamamoto, Eri Kameyama, Ryo Nishino
BACKGROUND: The number of lung transplantation has tended to increase as a treatment for patients with pulmonary arterial hypertension (PAH) and lymphangiomyomatosis (LAM) in Japan. However, we have little evidence about the comparison of perioperative management in patients with PAH and that in patients with LAM. METHODS: In this retrospective study, ten patients with PAH and seventeen patients with LAM who underwent the lung transplantations between 2006 and 2011 were enrolled...
May 2013: Masui. the Japanese Journal of Anesthesiology
Ryo Ogawa, Masao Miyagawa, Kana Ide, Akihisa Akamune, Yuji Ohtsuki, Teruhito Mochizuki
We present a case of multifocal micronodular pneumocyte hyperplasia (MMPH), lymphangiomyomatosis (LAM) and angiomyolipoma (AML) in a 33-year-old woman with tuberous sclerosis complex referred to us during her first pregnancy. Computed tomography of the chest showed diffuse micronodules and cysts in both lungs. Compared to those before pregnancy, the number of micronodules increased evidently. We hypothesized the micronodules in both lungs were either LAM, MMPH, or a combination of the two. Bilateral renal AML also intensified...
September 2013: Japanese Journal of Radiology
Bhushan Madke
Rapamycin (sirolimus) is a fungal fermentation product that inhibits the proper functioning of a serine/threonine protein kinase in mammalian cells eponymously named mammalian target of rapamycin, or mTOR. Rapamycin is a novel class of anticancer and immunosuppressant drugs targeting the proteins at molecular level. Rapamycin (sirolimus) is routinely incorporated in drug-eluting stents used for cardiac angioplasty. In recent years, rapamycin was found to be efficacious in managing the symptom complex of tuberous sclerosis, i...
January 2013: Indian Dermatology Online Journal
Anastasia Oikonomou, Panos Prassopoulos
Septal, reticular, nodular, reticulonodular, ground-glass, crazy paving, cystic, ground-glass with reticular, cystic with ground-glass, decreased and mosaic attenuation pattern characterise interstitial lung diseases on high-resolution computed tomography (HRCT). Occasionally different entities mimic each other, either because they share identical HRCT findings or because of superimposition of patterns. Idiopathic pulmonary fibrosis (IPF), fibrosis associated with connective tissue disease, asbestosis, end-stage sarcoidosis or chronic hypersensitivity pneumonitis (HP) may present with lower zone, subpleural reticular pattern associated with honeycombing...
February 2013: Insights Into Imaging
Dandan Zong, Ruoyun Ouyang
To improve the diagnosis and treatment of pulmonary lymphangiomyomatosis, clinical data for the first successfully treated case of pulmonary and retroperitoneal lymphangiomyomatosis in our hospital has been comprehensively analyzed, and the relevant literature has been reviewed. A 45-year-old Han Chinese woman initially presented six months ago with increasing shortness of breath on exertion and was admitted to our hospital after four days of chest pain. Admission examination revealed chylothorax, interstitial lung disease, and enlarged retroperitoneal lymph nodes...
September 2012: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
Sanish S Shringarpure, Joseph V Thachil, Menon Maya
Perivascular epithelioid cell tumors are a family of related mesenchymal neoplasms that include angiomyolipoma, lymphangiomyomatosis, clear cell sugar tumor of the lung and a group of rare morphologically and immunophenotypically similar lesions that show immunoreactivity for both melanocytic (HMB-45 and/or melan-A) and smooth muscle (actin and/or desmin) markers. This case is presented for its rare occurrence and characteristic morphologic and immunohistochemical features.
September 2012: Saudi Journal of Kidney Diseases and Transplantation
Jay H Ryu, Anne-Marie G Sykes, Augustine S Lee, Charles D Burger
OBJECTIVE: To assess the frequency of cystic lung disease suggestive of pulmonary lymphangiomyomatosis in men with tuberous sclerosis complex. PATIENTS AND METHODS: Retrospective review of CT scans of the chest and abdomen on 29 men with tuberous sclerosis complex encountered during a 13-year period, 1998 to 2010. RESULTS: Cystic lung disease (defined as ≥4 cysts) was seen in 11 of 29 men (38%) with tuberous sclerosis complex. The mean age of those with cystic lung disease was 46...
November 2012: Respiratory Medicine
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