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https://www.readbyqxmd.com/read/28332779/intrafamilial-phenotypic-variability-in-a-polish-family-with-sensenbrenner-syndrome-and-biallelic-wdr35-mutations
#1
Joanna Walczak-Sztulpa, Anna Wawrocka, Agata Sobierajewicz, Lukasz Kuszel, Jan Zawadzki, Ryszard Grenda, Anna Swiader-Lesniak, Beata Kocyla-Karczmarewicz, Anna Wnuk, Anna Latos-Bielenska, Krystyna H Chrzanowska
Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy. Cranioectodermal dysplasia is characterized by craniofacial, skeletal, and ectodermal abnormalities. About 50 patients have been described to date. Sensenbrenner syndrome belongs to a group of ciliary chondrodysplasias and is a genetically heterogeneous disorder. Mutations in five genes: IFT122, WDR35, IFT43, WDR19, and IFT52 have been associated with CED. All known genes encode proteins that are part of the intraflagellar transport complex, which plays an important role in the assembly and maintenance of cilia...
March 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28331796/an-unexpected-finding-in-a-man-with-multiple-pulmonary-nodules-a-pleural-effusion-and-respiratory-failure
#2
Yik Lam Pang, Quentin Jones
We report the case of a 47-year old Caucasian man with a history of depression and high alcohol intake who presented with a one-month history of weight loss, dry cough and abdominal pain. He had no smoking history of note. The patient was treated for a suspected chest infection, however developed respiratory failure and was intubated. A CT showed multiple pulmonary nodules, left pleural thickening extending to the mediastinum and bilateral pleural effusions-larger on the left, suggestive of disseminated malignancy...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/28331795/pleural-amyloidosis-imitating-pleural-malignancy
#3
Frith Coolbear, Ana-Maria Bilawich, Jonathan Tongson, James Adamo, Andrew Churg
CT chest performed to investigate dyspnea and malaise in an 83 year old man demonstrated bilateral circumferential pleural thickening highly suspicious for pleural mesothelioma or metastatic pleural malignancy. Histopathology of a subsequent pleural biopsy returned a diagnosis of pleural amyloid. This case identifies pleural amyloid as a rare differential consideration for diffuse pleural thickening; the difficulties in distinguishing pleural amyloid from pleural malignancy are highlighted.
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/28331122/an-autopsy-case-report-of-adult-t-cell-leukemia-accompanied-by-rheumatoid-arthritis-mimicking-diffuse-panbronchiolitis
#4
Tomoko Shiraishi, Hiroshi Ishimoto, Kentaro Akata, Toshinori Kawanami, Kazuhiro Yatera, Hiroshi Mukae
A 50-year-old female with a history of chronic sinusitis and rheumatoid arthritis visited our department with repetitive lower respiratory tract infections of Pseudomonas aeruginosa. Her chest CT showed diffuse panbronchiolitis-like pulmonary lesions, her blood examination revealed atypical lymphocytes, and she was serologically positive for anti-human T-lymphotrophic virus type 1 (HTLV-1) antibody. Her rheumatoid arthritis had been well-controlled after biological agent treatment followed by anti-inflammatory analgesic treatment...
2017: Journal of UOEH
https://www.readbyqxmd.com/read/28329616/a-chronic-bleeding-and-painful-nodule-on-the-chest
#5
Isadore Tarantino, Garth Fraga, Ryan Fischer
An 81-year-old man presented to the dermatology clinic with a painful lesion on his chest. The nodule would occasionally bleed and leak serous fluid for 10 years. Physical examination revealed an unspecified nodule with two superimposed nodules. A deep shave biopsy of the lesion was obtained and expressed a solid-cystic dermal neoplasm that was comprised of an admixture of cell types. Through the presenting clinical and histological features seen, a final diagnosis of nodular hidradenoma was made.
September 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28329517/purple-patches-in-an-immunocompromised-patient-a-report-of-secondary-disseminated-cutaneous-mucormycosis-in-a-man-with-chronic-lymphocytic-leukemia
#6
Sanjana Iyengar, Cindy J Chambers, Jillian W Millsop, Maxwell A Fung, Victoria R Sharon
A 60-year-old man with chronic lymphocytic leukemiadeveloped a deeply violaceous annular patchwith a halo of erythema on the right thigh duringhospitalization for neutropenic fever. Associatedsymptoms included chronic cough and fatigue.Bilateral lung opacities with hilar lymphadenopathywere noted on chest computed tomographyscan. Punch biopsy and tissue culture confirmeda diagnosis of secondary disseminated cutaneousmucormycosis. Although rare, physicians shouldinclude mucormycosis in the differential diagnosisof purpuric patches in immunosuppressed patients...
March 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28329289/repair-of-calcified-left-ventricular-pseudoaneurysm-of-long-duration
#7
Orhan Saim Demirtürk, Elif Karadeli, Utku Alemdaroglu, Mustafa Yilmaz
Cardiac pseudoaneurysm is a contained rupture of the myocardium limited by pericardial adhesions or the epicardial wall. Cardiac pseudoaneurysm may cause sudden death with a mortality of 30-45% in the first year, mostly resulting from rupture. Coronal and axial T2-weighted magnetic resonance images of a 65-year-old male patient admitted with dyspnoea, coughing and chest pain, present for the last 10 days, revealed a large pseudoaneursym of the left ventricle. Coronary bypass and left ventricular restoration operation was performed...
February 23, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/28328558/dacryoadenitis-as-the-initial-presentation-of-a-natural-killer-t-cell-lymphoma
#8
Juan C Jiménez-Pérez, Frederick A Jakobiec, Fouad R Zakka, Michael K Yoon
Primary orbital natural killer T-cell lymphoma (NKTCL) is a rare condition with only a few published cases in the literature. Over 1 month, an 81-year-old man developed progressive left periocular inflammation unresponsive to treatment. Clinical examination and imaging studies demonstrated a left lacrimal gland enlargement. Bilateral anterior uveitis and erythematous nontender cutaneous lesions were also found. Biopsies of the skin and lacrimal gland on the back revealed histopathologic and immunohistochemical findings confirming Epstein-Barr virus-positive NKTCL...
March 21, 2017: Ophthalmic Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28328098/plasma-exchange-successfully-treated-macrophage-activation-syndrome-in-rheumatoid-factor-positive-polyarticular-juvenile-idiopathic-arthritis-with-combined-pneumonia
#9
Lianjie Shi, Fanlei Hu, Chuanhui Xu, Huaqun Zhu, Di Qie, Chuanjie Yuan, Yuhong Tao, Hanmin Liu
Macrophage activation syndrome (MAS) is one of the serious complications associated with rheumatic diseases, especially systemic juvenile idiopathic arthritis (sJIA). Here we describe a 9-year-old girl with rheumatoid factor (RF)-positive polyarticular JIA, not sJIA, combined with pneumonia who was successfully treated by plasma exchange. She was diagnosed with RF-positive polyarticular JIA based on positive RF and multiple joint swelling and tenderness 3 years ago. She was admitted in our hospital with myalgia for 2 days and a high fever for half a day...
March 22, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/28327204/lung-adenocarcinoma-with-thyroid-metastasis-a-case-report
#10
A Dao, H Jabir, A Taleb, N Benchakroun, Z Bouchbika, T Nezha, H Jouhadi, S Sahraoui, A Benider
BACKGROUND: The metastases of a primary lung cancer over the thyroid gland are extremely rare. We report on an unusual presentation of thyroid metastasis of lung cancer in order to improve the management of similar cases. CASE PRESENTATION: Three years ago, a Moroccan male 59-year-old was admitted for dyspnea, dry cough, and chest pain. He had smoked about 30 cigarette packs a year. Clinical examination revealed a right thyroid nodule. Chest and neck computed tomography (CT) scan showed a proximal left tumor in contact with the pulmonary artery and revealed a suspected nodule in the right lobe of the thyroid with homolateral neck node...
March 21, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28325788/decompression-illness-with-hypovolemic-shock-and-neurological-failure-symptoms-after-two-risky-dives-a-case-report
#11
Sebastian Klapa, Johannes Meyne, Wataru Kähler, Frauke Tillmans, Henning Werr, Andreas Binder, Andreas Koch
Hypovolemia is known to be a predisposing factor of decompression illness (DCI) while diving. The typical clinically impressive neurological symptoms of DCI may distract from other symptoms such as an incipient hypovolemic shock. We report the case of a 61-year-old male Caucasian, who presented with an increasing central and peripheral neural failure syndrome and massive hypovolemia after two risky dives. Computed tomography (CT) scans of the chest and Magnetic resonance imaging scans of the head revealed multiple cerebral and pulmonary thromboembolisms...
March 2017: Physiological Reports
https://www.readbyqxmd.com/read/28325515/-a-new-case-of-rowell-s-syndrome
#12
C Schissler, S Banea, M-C Tortel, A Mahé
INTRODUCTION: This article introduces a new case of Rowell's syndrome, a controversial entity defined by the association of lupus erythematosus and erythema multiforme. OBSERVATION: A 43-year-old woman was diagnosed with lupus erythematosus induced by esomeprazole. Because her eruption did not improve after withdrawal of the drug, hydroxychloroquine was administered. Two weeks later, the patient described new annular lesions on her chest and arms, both erosive and crusted, and some had a target-like appearance...
March 18, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/28324617/rare-localized-extralobar-sequestration-with-congenital-cystic-adenomatoid-malformation-a-case-report
#13
Satoshi Nagasaka, Satsuki Kina, Yoshihito Arimoto, Fumi Yokote, Tsuyoshi Uchida, Hirochika Matsubara
Extralobar sequestrations constitute a rare form of congenital pulmonary airway malformations that are difficult to diagnose. Here, we report a rare case of a localized extralobar sequestration in the right superior portion of the mediastinum accompanied by congenital cystic adenomatoid malformation.A 19-year-old man presented with a right upper mediastinal mass that was detected using chest radiography, had a history of left spontaneous pneumothorax, and had undergone a bullectomy 4 years previously.The initial diagnosis included a mature teratoma and a bronchogenic cyst in the mediastinum; however, the presence of a cystic mass in the right upper lobe of the lung prompted further examination...
December 2017: Surgical Case Reports
https://www.readbyqxmd.com/read/28323731/thymic-carcinoma-with-endobronchial-metastasis-a-case-report
#14
Makoto Nagamata, Yusuke Okuma, Yukio Hosomi, Tsunekazu Hishima
Thymic carcinoma is a rare cancer, accounting for only 1% to 4% of thymic epithelial tumors. Endobronchial metastasis is a rare presentation of these tumors. A 64-year-old man presented with a cough. Lung cancer was suspected because a chest radiograph showed a 7-cm mass in the left pulmonary hilum. Computed tomography showed a mass in the anterior mediastinum and an infiltrate in the upper lobe of the left lung. Bronchoscopy demonstrated bilateral polypoid tumors in the left B bronchus and the right B bronchus...
April 2017: Journal of Bronchology & Interventional Pulmonology
https://www.readbyqxmd.com/read/28321808/uncommon-features-of-surgically-resected-alk-positive-cavitary-lung-adenocarcinoma-a-case-report
#15
Shinkichi Takamori, Masafumi Yamaguchi, Kenichi Taguchi, Makoto Edagawa, Shinichiro Shimamatsu, Ryo Toyozawa, Kaname Nosaki, Fumihiko Hirai, Takashi Seto, Mitsuhiro Takenoyama, Yukito Ichinose
Some features found on chest computed tomography (CT), such as central tumor location, large pleural effusion, and the absence of a pleural tail, and a patient age of less than 60 years, have been suggested to be useful in predicting anaplastic lymphoma kinase (ALK) rearrangement in patients with non-small cell lung cancer (NSCLC).A 68-year-old female patient with a history of gynecological treatment was found to have a cavitary mass in the right lower lobe on an annual chest roentgenogram. The tumor was located in the peripheral area with a pleural tail showing no pleural effusion...
December 2017: Surgical Case Reports
https://www.readbyqxmd.com/read/28321355/a-rare-presentation-of-sarcoidosis-as-a-pancreatic-head-mass
#16
Shruti Mony, Pradnya D Patil, Rebekah English, Ananya Das, Daniel A Culver, Tanmay S Panchabhai
Sarcoidosis is a multisystem granulomatous syndrome of unknown etiology with noncaseating epithelioid granulomas being the pathognomonic pathological finding. Sarcoidosis most commonly involves the lungs and involvement of the gastrointestinal (GI) tract is uncommon. Pancreatic sarcoidosis is very rare, especially when it is the presenting feature of sarcoidosis and can masquerade as pancreatic cancer. Tissue infiltration in pancreatic sarcoidosis can lead to either a diffuse nodular appearance or a mass-like lesion...
2017: Case Reports in Pulmonology
https://www.readbyqxmd.com/read/28321093/successful-treatment-with-biweekly-chop-for-bone-marrow-relapse-of-blastic-plasmacytoid-dendritic-cell-neoplasm
#17
Keiko Ono, Mikiko Ise, Dai Ikebe, Akiyasu Sato, Xiaofei Wang, Takeaki Sugawara, Hideki Tsujimura, Makiko Itami, Kyoya Kumagai
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and aggressive hematological malignancy derived from precursors of plasmacytoid dendritic cells. The majority of patients initially respond to multi-agent chemotherapy, though most relapse within a year and the prognosis is very poor. We report a 67-year-old man with erythema on the right chest and a nasopharyngeal mass. Histological examination revealed a mass of tumor cells expressing CD4, CD56, and CD123, but neither CD3 nor CD20. He was diagnosed with BPDCN...
2017: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/28321072/multiple-metastasizing-pleomorphic-adenomas-of-the-lung
#18
Ayaka Nakai, Kensuke Suzuki, Hideaki Furuse, Takeshi Tsuda, Yasuaki Masaki, Hideki Shinno, Yoshitaka Ito, Hideki Miyazawa, Hirokazu Taniguchi
A 40-year-old woman was referred to our hospital with abnormal findings on chest X-ray. Her medical history was remarkable in that she had presented with a pleomorphic adenoma in the right parotid gland treated by surgical removal approximately 12 years previously. Chest computed tomography showed well-defined non-calcified nodules of the bilateral lobes, so she underwent segmentectomy of the right upper lobe and middle lobe. The histopathological diagnosis was metastasizing pleomorphic adenoma of the lung, a rare entity...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28321070/primary-malignant-lymphoma-originating-from-the-chest-wall-without-preceding-pleural-disease
#19
Yumi Iwasa, Asuka Okada, Hideaki Takenaka, Terukazu Takahashi, Nobuo Koguchi, Kumiko Katayama, Shinsuke Murakami, Sumito Choh, Koichi Tomoda, Hiroshi Kimura
An 84-year-old woman presented to our hospital with dyspnea on exertion and left back pain. Chest X-ray and chest computed tomography (CT) revealed an irregular pleural mass invading her left chest wall with rib destruction and pleural effusion. CT-guided needle biopsy revealed diffuse large B-cell lymphoma. Low-dose oral etoposide produced a complete response, and she continued oral chemotherapy for one year after the diagnosis and maintained good performance status. We herein report a very rare case of non-pyothorax-associated lymphoma that nonetheless resulted in great recovery...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28321019/myocardial-infarction-in-a-young-man-with-nephrotic-syndrome
#20
Zhenliang Chu, Hang Zhu, Bin Zhang, Liqin Jiang
A 26-year-old man diagnosed with nephrotic syndrome (NS) 2 years previously presented with chest pain. An electrocardiogram (ECG) performed at a local hospital showed ST-elevation in chest leads. Cardiac troponin-I was significantly positive. Echocardiography revealed mild regional wall-motion abnormalities in the heart apex. Seven days later, angiography (CAG) revealed a thrombus in the left anterior descending branch (LAD). Tirofiban was injected into the LAD for thromboclasis. ECG after CAG showed the ST-segment was much lower than before...
March 17, 2017: International Heart Journal
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