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Pleural effusion

MedGen UID:
776561
Concept ID:
C2073625
Finding
 
HPO: HP:0002202

Conditions with this feature

Degos disease
MedGen UID:
113138
Concept ID:
C0221011
Disease or Syndrome
Variously described as a vasculopathy, endovasculitis, or occlusive arteriopathy, this condition occurs in a benign cutaneous form and a lethal multiorgan systemic variant. It is characterized by a narrowing and occlusion of the lumen of small to medium-sized blood vessels, leading to ischemia and infarction in the involved organ systems. The etiology and pathophysiology are unknown.
Hereditary pancreatitis
MedGen UID:
116056
Concept ID:
C0238339
Disease or Syndrome
A disorder characterized by recurrent episodes of pancreatitis that start at a young age. It is caused by mutations in the PRSS1 or SPINK1 genes. Patients are at a high risk of developing pancreatic carcinoma.
Hennekam lymphangiectasia-lymphedema syndrome
MedGen UID:
137946
Concept ID:
C0340834
Congenital Abnormality
Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by Alders et al., 2014). Genetic Heterogeneity of Hennekam Lymphangiectasia-Lymphedema Syndrome See also HKLLS2 (616006), caused by mutation in the FAT4 gene (612411) on chromosome 4q28.
Hemochromatosis type 1
MedGen UID:
140272
Concept ID:
C0392514
Disease or Syndrome
HFE-associated hereditary hemochromatosis (HFE-HH) is characterized by inappropriately high absorption of iron by the gastrointestinal mucosa. The phenotypic spectrum of HFE-HH is now recognized to include: Those with clinical HFE-HH, in which manifestations of end-organ damage secondary to iron storage are present; Those with biochemical HFE-HH, in which the only evidence of iron overload is increased transferrin-iron saturation and increased serum ferritin concentration; and Non-expressing p.Cys282Tyr homozygotes in whom neither clinical manifestations of HFE-HH nor iron overload are present. Clinical HFE-HH is characterized by excessive storage of iron in the liver, skin, pancreas, heart, joints, and testes. In untreated individuals: early symptoms may include abdominal pain, weakness, lethargy, and weight loss; the risk of cirrhosis is significantly increased when the serum ferritin is higher than 1,000 ng/mL; other findings may include progressive increase in skin pigmentation, diabetes mellitus, congestive heart failure and/or arrhythmias, arthritis, and hypogonadism. Clinical HFE-HH is more common in men than women.
Greenberg dysplasia
MedGen UID:
224885
Concept ID:
C1300226
Disease or Syndrome
Greenberg dysplasia, also known as hydrops-ectopic calcification-moth-eaten (HEM) skeletal dysplasia, is a rare autosomal recessive osteochondrodysplasia characterized by gross fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers. It is lethal in utero. Patient fibroblasts show increased levels of cholesta-8,14-dien-3-beta-ol, suggesting a defect of sterol metabolism (summary by Konstantinidou et al., 2008). Heterozygous, or rarely homozygous, mutations in the LBR gene can also cause Pelger-Huet anomaly (PHA; 169400). Oosterwijk et al. (2003) identified 11 reported patients with Pelger-Huet anomaly and homozygosity for mutations in the LBR gene and found that none had skeletal dysplasia, early lethality, congenital abnormalities, or skin abnormalities. They suggested that homozygous LBR mutations result in distinct mild (PHA homozygosity) or severe (Greenberg skeletal dysplasia) phenotypes based on allelic heterogeneity. Herman (2003) reviewed the cholesterol biosynthetic pathway and 6 disorders involving enzyme defects in postsqualene cholesterol biosynthesis: Smith-Lemli-Opitz syndrome (SLOS; 270400), desmosterolosis (602398), X-linked dominant chondrodysplasia punctata (CDPX2; 302960), CHILD syndrome (308050), lathosterolosis (607330), and HEM skeletal dysplasia.
Lymphangiectasia pulmonary congenital
MedGen UID:
340355
Concept ID:
C1849554
Congenital Abnormality
A congenital abnormality in the lungs characterized by the presence of dilated lymphatic vessels in the interlobar, perivascular, and peribronchial areas of the lungs. Signs and symptoms appear at birth and include tachypnea, cyanosis, and respiratory distress.
Arteritis, familial granulomatous, with juvenile polyarthritis
MedGen UID:
349529
Concept ID:
C1862510
Disease or Syndrome

Recent clinical studies

Etiology

Kulaylat AN, Engbrecht BW, Pinzon-Guzman C, Albaugh VL, Rzucidlo SE, Schubart JR, Cilley RE
J Pediatr Surg 2014 Sep;49(9):1378-81. Epub 2014 Jan 28 doi: 10.1016/j.jpedsurg.2014.01.002. [Epub ahead of print] PMID: 25148741
Razazi K, Thille AW, Carteaux G, Beji O, Brun-Buisson C, Brochard L, Mekontso Dessap A
Ann Am Thorac Soc 2014 Sep;11(7):1018-24. doi: 10.1513/AnnalsATS.201404-152OC. PMID: 25079591
Wang LS, Wang HY, Zhou WH
Indian Pediatr 2014 Jun;51(6):487-9. PMID: 24986288
Valenza-Demet G, Valenza MC, Cabrera-Martos I, Torres-Sánchez I, Revelles-Moyano F
Clin Rehabil 2014 Nov;28(11):1087-95. Epub 2014 Apr 14 doi: 10.1177/0269215514530579. [Epub ahead of print] PMID: 24733648
Ferreiro L, San José E, González-Barcala FJ, Suárez-Antelo J, Toubes ME, Valdés L
Arch Bronconeumol 2014 Dec;50(12):554-6. Epub 2014 Feb 22 doi: 10.1016/j.arbres.2013.07.020. [Epub ahead of print] PMID: 24565689

Diagnosis

Kulaylat AN, Engbrecht BW, Pinzon-Guzman C, Albaugh VL, Rzucidlo SE, Schubart JR, Cilley RE
J Pediatr Surg 2014 Sep;49(9):1378-81. Epub 2014 Jan 28 doi: 10.1016/j.jpedsurg.2014.01.002. [Epub ahead of print] PMID: 25148741
Wang LS, Wang HY, Zhou WH
Indian Pediatr 2014 Jun;51(6):487-9. PMID: 24986288
Valenza-Demet G, Valenza MC, Cabrera-Martos I, Torres-Sánchez I, Revelles-Moyano F
Clin Rehabil 2014 Nov;28(11):1087-95. Epub 2014 Apr 14 doi: 10.1177/0269215514530579. [Epub ahead of print] PMID: 24733648
Ferreiro L, San José E, Valdés L
Arch Bronconeumol 2014 Oct;50(10):435-43. Epub 2014 Apr 8 doi: 10.1016/j.arbres.2013.07.006. [Epub ahead of print] PMID: 24721286
Villena Garrido V, Cases Viedma E, Fernández Villar A, de Pablo Gafas A, Pérez Rodríguez E, Porcel Pérez JM, Rodríguez Panadero F, Ruiz Martínez C, Salvatierra Velázquez A, Valdés Cuadrado L
Arch Bronconeumol 2014 Jun;50(6):235-49. Epub 2014 Mar 31 doi: 10.1016/j.arbres.2014.01.016. [Epub ahead of print] PMID: 24698396

Therapy

Devkota KC, Chokhani R, Gautam S
Nepal Med Coll J 2014 Sep;16(1):13-6. PMID: 25799803
Razazi K, Thille AW, Carteaux G, Beji O, Brun-Buisson C, Brochard L, Mekontso Dessap A
Ann Am Thorac Soc 2014 Sep;11(7):1018-24. doi: 10.1513/AnnalsATS.201404-152OC. PMID: 25079591
Valenza-Demet G, Valenza MC, Cabrera-Martos I, Torres-Sánchez I, Revelles-Moyano F
Clin Rehabil 2014 Nov;28(11):1087-95. Epub 2014 Apr 14 doi: 10.1177/0269215514530579. [Epub ahead of print] PMID: 24733648
Villena Garrido V, Cases Viedma E, Fernández Villar A, de Pablo Gafas A, Pérez Rodríguez E, Porcel Pérez JM, Rodríguez Panadero F, Ruiz Martínez C, Salvatierra Velázquez A, Valdés Cuadrado L
Arch Bronconeumol 2014 Jun;50(6):235-49. Epub 2014 Mar 31 doi: 10.1016/j.arbres.2014.01.016. [Epub ahead of print] PMID: 24698396
Ferreiro L, San José E, González-Barcala FJ, Suárez-Antelo J, Toubes ME, Valdés L
Arch Bronconeumol 2014 Dec;50(12):554-6. Epub 2014 Feb 22 doi: 10.1016/j.arbres.2013.07.020. [Epub ahead of print] PMID: 24565689

Prognosis

Razazi K, Thille AW, Carteaux G, Beji O, Brun-Buisson C, Brochard L, Mekontso Dessap A
Ann Am Thorac Soc 2014 Sep;11(7):1018-24. doi: 10.1513/AnnalsATS.201404-152OC. PMID: 25079591
Wang LS, Wang HY, Zhou WH
Indian Pediatr 2014 Jun;51(6):487-9. PMID: 24986288
Ishida M, Gonoi W, Hagiwara K, Okuma H, Shintani Y, Abe H, Takazawa Y, Ohtomo K, Fukayama M
Am J Forensic Med Pathol 2014 Jun;35(2):113-7. doi: 10.1097/PAF.0000000000000083. PMID: 24781399
Valenza-Demet G, Valenza MC, Cabrera-Martos I, Torres-Sánchez I, Revelles-Moyano F
Clin Rehabil 2014 Nov;28(11):1087-95. Epub 2014 Apr 14 doi: 10.1177/0269215514530579. [Epub ahead of print] PMID: 24733648
Ferreiro L, San José E, González-Barcala FJ, Suárez-Antelo J, Toubes ME, Valdés L
Arch Bronconeumol 2014 Dec;50(12):554-6. Epub 2014 Feb 22 doi: 10.1016/j.arbres.2013.07.020. [Epub ahead of print] PMID: 24565689

Clinical prediction guides

Razazi K, Thille AW, Carteaux G, Beji O, Brun-Buisson C, Brochard L, Mekontso Dessap A
Ann Am Thorac Soc 2014 Sep;11(7):1018-24. doi: 10.1513/AnnalsATS.201404-152OC. PMID: 25079591
Wang LS, Wang HY, Zhou WH
Indian Pediatr 2014 Jun;51(6):487-9. PMID: 24986288
Ishida M, Gonoi W, Hagiwara K, Okuma H, Shintani Y, Abe H, Takazawa Y, Ohtomo K, Fukayama M
Am J Forensic Med Pathol 2014 Jun;35(2):113-7. doi: 10.1097/PAF.0000000000000083. PMID: 24781399
Valenza-Demet G, Valenza MC, Cabrera-Martos I, Torres-Sánchez I, Revelles-Moyano F
Clin Rehabil 2014 Nov;28(11):1087-95. Epub 2014 Apr 14 doi: 10.1177/0269215514530579. [Epub ahead of print] PMID: 24733648
Doğrul MI, Akçay S, Savaş Bozbaş Ş, Er Dedekargınoğlu B, Öner Eyüboğlu F, Moray G, Haberal M
Exp Clin Transplant 2014 Mar;12 Suppl 1:149-52. PMID: 24635814

Recent systematic reviews

Tian P, Shen Y, Feng M, Zhu J, Song H, Wan C, Chen L, Wen F
Postgrad Med 2015 Jun;127(5):529-34. Epub 2015 May 15 doi: 10.1080/00325481.2015.1048180. [Epub ahead of print] PMID: 25979108
Chen J, Chen YJ, Wu MD
J Cancer Res Ther 2014 Aug;10 Suppl 1:56-9. doi: 10.4103/0973-1482.139761. PMID: 25207893
Valdés L, Huggins JT, Gude F, Ferreiro L, Alvarez-Dobaño JM, Golpe A, Toubes ME, González-Barcala FJ, José ES, Sahn SA
Respirology 2014 Oct;19(7):985-92. Epub 2014 Aug 14 doi: 10.1111/resp.12357. [Epub ahead of print] PMID: 25123563
Wilcox ME, Chong CA, Stanbrook MB, Tricco AC, Wong C, Straus SE
JAMA 2014 Jun 18;311(23):2422-31. doi: 10.1001/jama.2014.5552. PMID: 24938565
Severo CB, Dall Bello AG, Oliveira Fde M, Guazzelli LS, Tregnago R, Haas M, Hochhegger B, Severo LC
Mycopathologia 2013 Apr;175(3-4):323-30. Epub 2013 Feb 19 doi: 10.1007/s11046-013-9617-4. [Epub ahead of print] PMID: 23420377

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