Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping

Nephronophthisis: disease mechanisms of a ciliopathy.

Nephronophthisis (NPHP), a recessive cystic kidney disease, is the most frequent genetic cause of end-stage kidney disease in children and young adults. Positional cloning of nine genes (NPHP1 through 9) and functional characterization of their encoded proteins (nephrocystins) have contributed to a unifying theory that defines cystic kidney diseases as "ciliopathies." The theory is based on the...

Specialized tools are needed when searching the web for rare disease diagnoses

In our recent paper, we study web search as an aid in the process of diagnosing rare diseases. To answer the question of how well Google Search and PubMed perform, we created an evaluation framework with 56 diagnostic cases and made our own specialized search engine, FindZebra (findzebra.com). FindZebra uses a set of publicly available curated sources on rare diseases and an open-source informa...

Specialised tools are needed when searching the web for rare disease diagnoses

A Rare Tonsillar Disease

A 16 year old women with Tangier disease in palatine tonsils is reported. She has recurrent sore throat. In physical examination the palatine tonsils are hypertrophied and has very yellowish points. The facial skin is yellowish  the skin of another areas of body is normal. After tonsillectomy the pathologist report Tangier disease in palatine tonsils.

Common Symptoms, but Rare Diagnoses in Neonatology.

In this issue of Pediatric Annals, the articles discuss newborns who present with common neonatal symptomology, but have rare diagnostic outcomes. In the first article, Drs. Alison Chu and Harvey K. Chiu discuss tachypnea and hypoglycemia, commonly presenting symptoms during the newborn period. In the illustrated case, the early and persistent hypoglycemia was a clue to the newborn’s underlying...