scholarly journals Tracheobronchopathia Osteochondroplastica: Five Cases Report and Literature Review

2020 ◽  
Vol 99 (10) ◽  
pp. NP111-NP118
Author(s):  
Weifang Wang ◽  
Hong Hu ◽  
Mei Liu ◽  
Jianxin Wang
Keyword(s):  
Conservative Treatment ◽  
Literature Review ◽  
Rare Disease ◽  
Disease Awareness ◽  
Tracheobronchopathia Osteochondroplastica

Tracheobronchopathia osteochondroplastica (TO) is a rare disease. Here, we report 5 TO cases treated at our hospital. Bronchoscopy showed typical multiple firm and glossy nodules in all the 5 cases. Conservative treatment effectively alleviated the symptoms. Tracheobronchopathia osteochondroplastica is a manageable disease. Awareness in clinicians is critical to avoid unnecessary treatment in patients with TO.

Cooccurrence of Two Different Genetic Diseases: A Case of Valproic Acid Hepatotoxicity in Nicolaides–Baraitser Syndrome (SMARCA2 Mutation)—Due to a POLG1-Related Effect?

2019 ◽  
Vol 51 (01) ◽  
pp. 049-052
Author(s):  
Benedikt Hofmeister ◽  
Celina von Stülpnagel ◽  
Steffen Berweck ◽  
Angela Abicht ◽  
Gerhard Kluger ◽  
...  
Keyword(s):  
Valproic Acid ◽  
Literature Review ◽  
Rare Disease ◽  
Clinical Features ◽  
Rare Diseases ◽  
Rare Complication ◽  
Genetic Diseases ◽  
Related Effect ◽  
Higher Sensitivity ◽  
Polg1 Mutation

AbstractNicolaides–Baraitser syndrome (NCBRS) is a rare disease caused by a mutation in the SMARCA2 gene. Clinical features include craniofacial dysmorphia and abnormalities of the limbs, as well as intellectual disorder and often epilepsy. Hepatotoxicity is a rare complication of the therapy with valproic acid (VPA) and a mutation of the polymerase γ (POLG) might lead to a higher sensitivity for liver hepatotoxicity. We present a patient with the coincidence of two rare diseases, the NCBRS and additionally a POLG1 mutation in combination with a liver hepatotoxicity. The co-occurrence in children for two different genetic diseases is discussed with the help of literature review.

scholarly journals Meconium periorchitis: A case report and literature review

2013 ◽  
Vol 7 (7-8) ◽  
pp. 495 ◽  
Author(s):  
Ammar Hameed Alanbuki ◽  
Ashwith Bandi ◽  
Nick Blackford
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Rare Disease ◽  
Relevant Literature ◽  
Plain Film ◽  
Meconium Peritonitis ◽  
Histological Features ◽  
Abdominal Plain Film ◽  
Scrotal Ultrasound

Meconium periorchitis (MPO) is an uncommon entity associated with healed meconium peritonitis. The typical presentation is a soft hydrocele at birth which becomes harder in weeks as the meconium calcifies. A lack of awareness of this rare disease may lead to unnecessary surgery of scrotal masses. It can resolve spontaneously without compromising the testicle. Scrotal ultrasound is the mainstay of imaging and abdominal plain film is less sensitive but can help in the diagnosis. We report a case of a meconium periorchitis and discuss its radiological and histological features. We also review the relevant literature.

scholarly journals Uterine Prolapse in Pregnancy: Two Cases Report and Literature Review

2018 ◽  
Vol 2018 ◽  
pp. 1-5 ◽  
Author(s):  
Chunyan Zeng ◽  
Feng Yang ◽  
Chunhua Wu ◽  
Junlin Zhu ◽  
Xiaoming Guan ◽  
...  
Keyword(s):  
Caesarean Section ◽  
Conservative Treatment ◽  
Literature Review ◽  
Vaginal Delivery ◽  
Clinical Characteristics ◽  
Uterine Prolapse ◽  
The Other ◽  
Gestational Period ◽  
In Pregnancy

Uterine prolapse complicating pregnancy is rare. Two cases are presented here: one patient had uterine prolapse at both her second and third pregnancy, and the other developed only once prolapse during pregnancy. This report will analyze etiology, clinical characteristics, complication, and treatment of uterine prolapse in pregnancy. Routine gynecologic examination should be carried out during pregnancy. If uterine prolapse occurred, conservative treatment could be used to prolong the gestational period as far as possible. Vaginal delivery is possible, but caesarean section seems a better alternative when prolapsed uterus cannot resolve during childbirth.

Successful prolonged conservative treatment of Gradenigo's syndrome in a 4-year-old girl: A case report and literature review

2011 ◽  
Vol 6 (2) ◽  
pp. 100-103 ◽  
Author(s):  
Elodie Marteau ◽  
Emilie Georget-Bouquinet ◽  
Suzanne Verlhac ◽  
Anne Gauthier ◽  
Natacha Remus ◽  
...  
Keyword(s):  
Case Report ◽  
Conservative Treatment ◽  
Literature Review ◽  
Gradenigo’S Syndrome

Oncocytic Papillary Renal Cell Carcinoma in the Background of Renal Adenomatosis

2016 ◽  
Vol 25 (1) ◽  
pp. 78-82
Author(s):  
Ji Yeon Kim
Keyword(s):  
Computed Tomography ◽  
Renal Cell Carcinoma ◽  
Literature Review ◽  
Cell Carcinoma ◽  
Rare Disease ◽  
Renal Cell ◽  
Malignant Tumors ◽  
Papillary Renal Cell Carcinoma ◽  
Renal Masses ◽  
Cytological Features

Renal adenomatosis is a rare disease characterized by numerous adenomas in bilateral kidneys. A literature review shows that malignant tumors can arise in this condition. The present case describes an oncocytic papillary renal cell carcinoma (PRCC) arising in renal adenomatosis. A 70-year-old man presented with incidentally identified, multiple right renal masses on computed tomography. Right nephrectomy was performed, and the resected kidney revealed numerous radiologically undetected small nodules additionally. Microscopically, the nodules were papillary neoplasms of variable sizes and cytological features. The largest nodule measured 1.6 cm and was composed of oncocytic cells, meeting the diagnostic criteria of oncocytic PRCC. The smaller nodules of papillary adenomas and tiny lesions showing a single papillary ingrowth were also seen. This case exhibits a spectrum of renal papillary neoplasms in a resected kidney and can be a valuable case in the understanding of tumorigenesis.

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