OBJECTIVETo explore the clinical feature, imaging and their diagnostic value for Joubert syndrome (JS).

METHODThe clinical data, imaging feature, and 31 references from China Biomedical literature database (CBMdise) were reviewed and analyzed.

RESULTThe age of onset of 32 patients including male 20 and female 12 ranged from 3 days to 6 years (mean 2.2 years). All the 32 patients with Joubert syndrome showed "slow growth" and "reduced muscle tension", 26 cases (81.3%) showed "gasp for breath", 26 cases (81.3%) showed "unusual motion of eyeball", 2 cases (6.3%) showed additional fingers (toes), 6 cases (18.8%) showed stretching tongue with agape. The typical imaging features of Joubert syndrome included "molar tooth sign", "midline cleavage" between cerebellar hemispheres and "bat-wing" like fourth ventricle, all the 32 patients with Joubert syndrome showed "midline cleavage", "molar tooth sign" was present in 29 cases (90.1%), and "bat-wing" like fourth ventricle in 30 cases (93.8%).

CONCLUSIONJoubert syndrome is a rare congenital brain malformation. The typical clinical manifestations included "gasp for breath", "reduced tension of muscle", "slow growth" and "unusual motion of eyeball", and at the same time the patients had the following typical imaging features of brain: "molar tooth sign", "midline cleavage" and "bat-wing" like fourth ventricle.

Abnormalities, Multiple ; Cerebellar Diseases ; diagnosis ; physiopathology ; Cerebellum ; abnormalities ; Child ; Eye Abnormalities ; diagnosis ; physiopathology ; Female ; Humans ; Kidney Diseases, Cystic ; diagnosis ; physiopathology ; Male ; Retina ; abnormalities ; physiopathology

Kabuki syndrome is characterized by long palpebral fissures, large ears, a depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. There have been few prior detailed descriptions of strabismus or stereopsis in these patients. We report a patient with Kabuki syndrome who showed small-angle strabismus and poor stereopsis. This case illustrates the need for patients with a diagnosis of Kabuki syndrome to have an ophthalmologic evaluation. Strabismus associated with Kabuki syndrome may have a small angle that can be easily overlooked.
Abnormalities, Multiple/physiopathology ; Child ; Face/abnormalities/physiopathology ; Female ; Hematologic Diseases/complications/physiopathology ; Humans ; Strabismus/*etiology/physiopathology ; Vestibular Diseases/complications/physiopathology ; *Vision, Binocular ; *Visual Acuity

Abnormalities, Multiple ; diagnosis ; pathology ; physiopathology ; Branchio-Oto-Renal Syndrome ; diagnosis ; pathology ; physiopathology ; therapy ; Child ; Deafness ; etiology ; physiopathology ; Diagnosis, Differential ; Ear ; abnormalities ; Female ; Humans ; Kidney ; abnormalities ; Renal Insufficiency ; etiology ; physiopathology ; therapy

Abnormalities, Multiple ; physiopathology ; Bronchoscopy ; Diagnosis, Differential ; Hirschsprung Disease ; diagnosis ; physiopathology ; Humans ; Hypoventilation ; complications ; physiopathology ; Infant ; Laryngoscopy ; Male ; Respiratory Insufficiency ; complications ; diagnosis ; physiopathology ; Sleep Apnea, Central ; etiology ; Syndrome

Abnormalities, Multiple ; blood ; diagnosis ; metabolism ; physiopathology ; Child ; Diagnosis, Differential ; Dwarfism ; blood ; diagnosis ; metabolism ; physiopathology ; Estradiol ; blood ; Female ; Follicle Stimulating Hormone ; blood ; Humans ; Luteinizing Hormone ; blood ; Silver-Russell Syndrome ; blood ; diagnosis ; metabolism ; physiopathology

INTRODUCTIONThe Optic Neuritis Treatment Trial (ONTT) has established that the magnetic resonance imaging (MRI) findings at the time of presentation of optic neuritis (ON) is the strongest indicator of the development of multiple sclerosis (MS). Reports from Singapore as well as other Asian countries have indicated that these abnormalities are less frequently encountered compared to that reported by the ONTT. This paper aims to describe systematically the brain MRI as well as the optic nerve abnormalities in patients after an episode of acute optic neuritis.

MATERIALS AND METHODSPatients who presented with acute optic neuritis were retrieved from our prospective optic neuritis study and their MRI scans were reviewed and graded in accordance with the standardised classification employed in the ONTT.

RESULTSFifteen of 24 patients had MRI brain and optic nerves performed during the acute episode. In the evaluation of brain abnormalities, 40% were classified as grade 0, 20% grade I, 20% grade II, 6.7% grade III and 13.3% grade IV. Optic nerve abnormalities were observed in 80% of cases. At study entry, 10 patients had idiopathic (monosymptomatic) ON, 3 had multiple sclerosis (MS), one each with infective and autoimmune optic neuritis, respectively. The single patient who developed MS at study completion presented with grade II brain abnormalities at the initial MRI. For those with idiopathic ON, our study revealed a higher percentage of grade 0-I brain changes as well as a lower lesion load compared to the ONTT.Lesion Load and grade was also lower in anterior optic neuritis compared with retrobulbar disease.

CONCLUSIONOur study revealed a lower percentage of grade II-IV brain MRI abnormalities as well as less lesion load in idiopathic ON compared to the ONTT. This may be related to the lower prevalence of MS in our predominantly Asian population. As diagnostic tests and understanding of neuromyelitis optica or Devic's disease improves, we may see more patients being diagnosed with this condition, which may also explain our findings. Our data also showed that MRI grade and lesion load in cases of anterior ON was lower than for retrobulbar disease. MRI in ON has an essential role in characterising the disease, evaluating for associated brain lesions, and assessing prognosis in retrobulbar disease but may be less useful in anterior disease.

Acute Disease ; Adolescent ; Adult ; Asia ; ethnology ; Brain ; abnormalities ; Female ; Humans ; Magnetic Resonance Imaging ; Male ; Medical Audit ; Middle Aged ; Multiple Sclerosis ; Optic Neuritis ; classification ; diagnosis ; ethnology ; physiopathology ; Prospective Studies ; Singapore ; Young Adult

OBJECTIVETo reprogram the 1q21.1 microdeletion pluripotent stem cells in order to establish an ideal model for further studying its pathogenesis.

METHODSHuman amniotic fluid-derived cells induced pluripotent stem cells (hAF-iPSCs) were induced from amniotic fluid cells harboring the 1q21.1 microdeletion by retroviral vectors encoding Oct4, Sox2, c-Myc and Klf4. Characteristics of the 1q21.1 microdeletion hAF-iPSCs were determined, which included in vitro pluripotency, karyotype, microarray analysis, the capacity of differentiation in vivo and in vitro, etc.

RESULTShAF-iPSCs derived from amniotic fluid cells harboring the 1q21.1 microdeletion have maintained self renewal, with expression of pluripotency marker genes detectable at mRNA level. Stem cell surface antigens were tested by immunocytochemistry. The 1q21.1 microdeletion hAF-iPSCs showed a normal karyotype after long-term culturing in vitro, and harbored the same microdeletion as confirmed by microarray analysis. The cells have maintained their differentiation capacity both in vivo and in vitro.

CONCLUSIONThe hAF-iPSCs harboring the 1q21.1 microdeletion have all the characteristics of normal pluripotent stem cells, and can be used for directed differentiation into specific cells, which may provide an ideal model for studying the pathogenesis of 1q21.1 microdeletion in vitro.

Abnormalities, Multiple ; embryology ; genetics ; physiopathology ; Adult ; Amniotic Fluid ; cytology ; Animals ; Cell Differentiation ; Chromosome Deletion ; Chromosomes, Human ; genetics ; Chromosomes, Human, Pair 1 ; genetics ; Female ; Fetal Diseases ; genetics ; physiopathology ; Gene Deletion ; Humans ; Induced Pluripotent Stem Cells ; cytology ; Male ; Megalencephaly ; embryology ; genetics ; physiopathology ; Mice ; Mice, SCID ; Models, Biological ; Pregnancy ; Young Adult