Sahar Saleem

Ancient Egypt had an advanced elaborate medical education and practice ruled by a competent bureaucracy that apprenticed physicians to be practicing healers. In modern history, the Faculty of Medicine at Cairo University (Kasr Al-Ainy), established in 1827, continues the glory of Egypt in medical education as one of the biggest and oldest medical schools in Africa and the Middle East. Its central Radiology Department, with its total 77 radiologists, is responsible for clinical services as well as for providing multiple calibre radiology education programs for about 100 trainees annually from Egypt and neighbouring countries. Radiology education programs are planned for radiology residents to obtain master’s degree (M.Sc.), for assistant lecturers to obtain medical doctorate (M.D.) and for visitor trainees. Objectives of radiology education programs include knowledge, practical skills, intellectual capabilities and communications with medical societies and communities. Trainees are assessed to determine if learning objectives have been fulfilled on a daily, weekly and biannual basis. Radiology education programs are measured for professional performance through the university’s self-assessment studies; national assessment is measured through the National Authority for Quality Assurance and Accreditation in Education (NAQAAE), Egypt, and international assessment is measured through the World Federation for Medical Education (WFME).

Joubert syndrome and related cerebellar disorders (JSRD) are a group of recessive congenital ataxia conditions usually showing neonatal hypotonia, dysregulated breathing rhythms, oculomotor apraxia, and mental retardation. The pathognomonic finding in JSRD is the unique molar tooth sign (MTS) on brain imaging. There is a tremendously broad spectrum of signs and symptoms mainly including kidney, retina, and liver disease, along with polydactyly and facial dysmorphisms. Here we propose a new diagnostic classification within JSRD that includes four major subtypes. To test this classification, we performed a systematic recruitment and genetic evaluation from a single referral center in Egypt. Thirteen families were identified, four showed evidence of linkage to one of the four known genetic loci, three showed novel AHI1 mutations, and nine were excluded from known loci. Each family could be classified into one of the four subtypes. This classification may thus be useful in the evaluation of patients with JSRD.

GLOSSARY: BUN = blood urinary nitrogen; COACH = cerebellar vermis hypo/aplasia-oligophrenia-ataxia-ocular coloboma-hepatic fibrosis; CORS = cerebello-oculo-renal syndrome; CVH = cerebellar vermis hypoplasia; DAS = Dekaban-Arima syndrome; DWM = Dandy-Walker malformation; JSRD = Joubert syndrome and related cerebellar disorders; LCA = Leber congenital amaurosis; lod = logarithm of odds score; MKS = Meckel-Gruber syndrome; MTS = molar tooth sign; NPH = nephronophthisis; NRC = National Research Center; OFD-VI = oro-facio-digital syndrome type VI; PCH = pontocerebellar hypoplasia; RHO = rhombencephalosynapsis; SLS = Senior-Loken syndrome.