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    Academic Journals

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• Pontobulbar palsy and sensorineural deafness (Brown-Vialetto-van Laere syndrome): A case from Northwest Iran

  Authors:Vahideh Toopchizadeh, Masood Akbari, and Afshin HabibzadehFrom:Journal of Pediatric Neurosciences (Vol. 8, Issue 3) Peer-Reviewed

  September-December 20131,138 words Clinical report 1680LByline: Vahideh. Toopchizadeh, Masood. Akbari, Afshin. Habibzadeh Brown--Vialetto--van Laere (BVVL) syndrome is a rare neurological disorder, which usually presents in late childhood and adolescence with various...

• Blue rubber bleb nevus syndrome: A case report

  Authors:Tejinder Kaur and Sumitoj SinghFrom:Indian Journal of Dermatology (Vol. 59, Issue 1) Peer-Reviewed

  January-February 2014720 words Clinical report 1630LByline: Tejinder. Kaur, Sumitoj. Singh Sir, Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder characterized by multiple venous malformations affecting the skin and internal viscera. It was first described...

• Mounier-Kuhn syndrome masquerading pulmonary thromboembolism in an elderly male

  Authors:Pankaj Gupta, Ujjwal Gorsi, Ashish Bhalla, and Niranjan KhandelwalFrom:Lung India (Vol. 31, Issue 1) Peer-Reviewed

  January-March 20141,348 words Clinical report 1360LByline: Pankaj. Gupta, Ujjwal. Gorsi, Ashish. Bhalla, Niranjan. Khandelwal Mounier-Kuhn syndrome, also referred to as tracheobronchomegaly, is a rare idiopathic clinical and radiologic disorder characterized by...

• Dentigerous cyst associated with ectopic canine and a supernumerary tooth: A rare occurrence

  Authors:Ashwini Ramakrishna and Pravin LambadeFrom:Journal of Surgical Technique and Case Report (Vol. 5, Issue 2) Peer-Reviewed

  July-December 20131,436 words Clinical report 1600LByline: Ashwini. Ramakrishna, Pravin. Lambade Amongst the cysts of the jaw dentigerous cyst (DC) is one of the most prevalent types of odontogenic cysts, which is associated with the crown of an unerupted or...

• Solitary eccrine syringofibroadenoma with nail involvement: A rare entity

  Authors:Pooja Arora, Shuchi Bansal, Vijay Garg, Nita Khurana, and Brahmanand LalFrom:Indian Journal of Dermatology (Vol. 60, Issue 1) Peer-Reviewed

  January-February 20151,208 words Clinical report 1420LByline: Pooja. Arora, Shuchi. Bansal, Vijay. Garg, Nita. Khurana, Brahmanand. Lal Eccrine syringofibroadenoma (ESFA) is a rare, benign tumor of eccrine sweat gland origin that usually presents as a nodule on the...

• Pyoderma gangrenosum in a patient with pemphigus vulgaris: An unusual association

  Authors:Vinay Keshavamurthy, Amrinder Kanwar, and Uma SaikiaFrom:Indian Journal of Dermatology (Vol. 60, Issue 1) Peer-Reviewed

  January-February 2015789 words Clinical report 1500LByline: Vinay. Keshavamurthy, Amrinder. Kanwar, Uma. Saikia Sir, Pyoderma gangrenosum (PG) is a rare inflammatory condition classified under neutrophilic dermatosis. Its pathogenesis is largely unknown; however,...

• Co-existence of various clinical and histopathological features of mycosis fungoides in a young female

  Authors:Farahnaz Naeini, Mehrnaz Soghrati, Bahareh Abtahi-Naeini, Jamshid Najafian, and Parvin RajabiFrom:Indian Journal of Dermatology (Vol. 60, Issue 2) Peer-Reviewed

  March-April 20151,376 words Clinical report 1730LByline: Farahnaz. Naeini, Mehrnaz. Soghrati, Bahareh. Abtahi-Naeini, Jamshid. Najafian, Parvin. Rajabi Mycosis fungoides is the most common type of cutaneous T-cell lymphoma (CTCL) and a rare disorder that typically...

• Co-existence of multicentric Castleman's disease and Kaposi's sarcoma

  Authors:Reza Yaghoobi, Nader Pazyar, and Sadigheh TavakoliFrom:Indian Journal of Dermatology (Vol. 60, Issue 3) Peer-Reviewed

  May-June 20151,255 words Clinical report 1630LByline: Reza. Yaghoobi, Nader. Pazyar, Sadigheh. Tavakoli Castleman's disease (CD) or giant lymph node hyperplasia is a rare disorder that can be unicentric or multicentric. Multicentric Castleman's disease (MCD) is...

• Amifostine before radiotherapy: A rare cause of SJS-TEN overlap

  Author:Sujata SenguptaFrom:Indian Journal of Dermatology (Vol. 60, Issue 3) Peer-Reviewed

  May-June 2015560 words Clinical report 1440LByline: Sujata. Sengupta Sir, Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are dermatological emergencies and involvement of 10-30% of BSA is designated as SJS-TEN overlap. Amifostine is a...

• Repair of minor true hare lip using V-Y plasty: How i do it

  Author:Abdelrahman EzzatFrom:Journal of Cutaneous and Aesthetic Surgery (Vol. 8, Issue 1) Peer-Reviewed

  January-March 2015954 words Report 1540LByline: Abdelrahman. Ezzat Background: Minor true hare lip is rare central midline deficiency of the upper lip. There are multiple techniques but little consensus on the preferred surgical technique. Materials And...

• Bilateral s-shaped kidneys: A rare congenital malformation

  Authors:Nikhil Ranjan, Rana Singh, Rohit Upadhyay, and Vijoy KumarFrom:Indian Journal of Urology (Vol. 31, Issue 3) Peer-Reviewed

  July-September 2015747 words Clinical report 1440LByline: Nikhil. Ranjan, Rana. Singh, Rohit. Upadhyay, Vijoy. Kumar A bilateral S-shaped kidney is a rare anomaly in which both the kidneys are in their normal position, in contrast to the commonly reported S-shaped...

• Concurrent intramedullary and intracranial tuberculoma: A rare association

  Authors:Rajesh Verma and Sanjeev KumarFrom:Annals of Tropical Medicine and Public Health (Vol. 8, Issue 4) Peer-Reviewed

  July-August 20151,001 words Clinical report 1280LByline: Rajesh. Verma, Sanjeev. Kumar Tuberculous meningitis is the most common manifestation of neurotuberculosis. The incidence of spinal intramedullary tuberculoma is still an uncommon presentation even in a...

• Personalized medicine in rare diseases

  Author:Francesc PalauFrom:Personalized Medicine (Vol. 9, Issue 2) Peer-Reviewed

  Mar. 20123,312 words Report 1330LAuthor(s): Francesc Palau 1 KEYWORDS : biomarkers; conceptual framework; genomics; healthcare models; personalized medicine; rare diseases Definition of personalized medicine is not an easy issue [1-3,101] ....

• The other human genome

  Author:Joseph PalcaFrom:Science (Vol. 249, Issue 4973) Peer-Reviewed

  Sept. 7, 19902,275 words Article The study of mitochondrial DNA is currently exciting a growing number of researchers. Mitochondria are small organelles in the cellular cytoplasm, in which the processes that provide cellular energy occur. They possess...

• Rosai Dorfman disease and peripheral T-cell lymphoma: A rare co-occurrence

  Authors:V. Tiwari, A. Pareek, H. Ghori, and M. AhirwarFrom:Journal of Postgraduate Medicine (Vol. 65, Issue 1) Peer-Reviewed

  January-March 2019814 words Report 1770LByline: V. Tiwari, A. Pareek, H. Ghori, M. Ahirwar Rosai-Dorfman disease (RDD) is a rare nonmalignant condition described as a separate clinico-pathological entity by Rosai and Dorfman in 1969. RDD belongs to a group...

• Tracheopathia and tracheobronchopathia osteochondroplastica: Computed tomographic findings of an uncommon entity - a series of two case reports

  Authors:Mohd Ilyas and Ghanshyam DevFrom:Advances in Human Biology (Vol. 7, Issue 2) Peer-Reviewed

  May-August 20171,146 words Clinical report 1450LByline: Mohd. Ilyas, Ghanshyam. Dev Tracheopathia and tracheobronchopathia osteochondroplastica refer to idiopathic, non-malignant disease of large airways featured by sub-mucosal cartilaginous to osseous nodules...

• Global spending on orphan drugs in France, Germany, the UK, Italy and Spain during 2007

  Authors:Javier Orofino, Javier Soto, Miguel A. Casado, and Itziar OyaguezFrom:Applied Health Economics and Health Policy (Vol. 8, Issue 5) Peer-Reviewed

  Nov. 20105,450 words Report Background: Orphan drugs are indicated for the treatment of rare diseases which, in the EU, are defined as those with a prevalence of <5 per 10 000 inhabitants. Characteristically, these diseases negatively affect...

• Scarce support changes lives: nurse specialists help to reduce hospital admissions and play a key role in treating rare diseases

  Author:Anita PatiFrom:Nursing Standard (Vol. 24, Issue 48) Peer-Reviewed

  Aug. 4, 2010941 words Article SUMMARY Patients with rare diseases often feel isolated and can struggle to find information, but nurse specialists can help. Keywords Rare diseases * Pompe disease * Specialist nurses * Drug administration *...

• A first description of the Colombian national registry for rare diseases

  Authors:Heidi Eliana Mateus, Ana MarA a PA~rez, Martha LucA a Mesa, GermA n Escobar, Jubby Marcela GA lvez, JosA~ Ivo MontaA@o, et al.From:BMC Research Notes (Vol. 10, Issue 1) Peer-Reviewed

  Oct. 26, 20172,955 words Report 1530LObjective Orphan diseases must be considered a public health concern, underlying country-specific challenges for their accurate and opportune diagnosis, classification and management. Orphan disease registries have...

• Activin-A enhances mTOR signaling to promote aberrant chondrogenesis in fibrodysplasia ossificans progressiva

  Authors:Kyosuke Hino, Kazuhiko Horigome, Megumi Nishio, Shingo Komura, Sanae Nagata, Chengzhu Zhao, et al.From:Journal of Clinical Investigation (Vol. 127, Issue 9) Peer-Reviewed

  Sept. 20179,537 words Report 1380LFibrodysplasia ossificans progressiva (FOP) is a rare and intractable disease characterized by extraskeletal bone formation through endochondral ossification. Patients with FOP harbor point mutations in ACVR1, a type I...