Vaginal lactoferrin in prevention of preterm birth in women with bacterial vaginosis.

Objective: To evaluate use of vaginal lactoferrin in prevention of preterm birth (PTB) in women with first trimester bacterial vaginosis and prior spontaneous PTB.

Methods: This is a retrospective cohort study of all consecutive singleton gestations with prior PTB, and first trimester diagnosis of bacterial vaginosis. Women who were found to have bacterial vaginosis were recommended lactoferrin 300 mg vaginal tablets daily for 21 days.

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.

Joubert syndrome and related disorders (JSRD) are clinically and genetically heterogeneous ciliopathies sharing a peculiar midbrain-hindbrain malformation known as the 'molar tooth sign'. To date, 19 causative genes have been identified, all coding for proteins of the primary cilium. There is clinical and genetic overlap with other ciliopathies, in particular with Meckel syndrome (MKS), that is allelic to JSRD at nine distinct loci.

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.

Neighboring genes are often coordinately expressed within cis-regulatory modules, but evidence that nonparalogous genes share functions in mammals is lacking. Here, we report that mutation of either TMEM138 or TMEM216 causes a phenotypically indistinguishable human ciliopathy, Joubert syndrome. Despite a lack of sequence homology, the genes are aligned in a head-to-tail configuration and joined by chromosomal rearrangement at the amphibian-to-reptile evolutionary transition.

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.

Tubulin glutamylation is a post-translational modification that occurs predominantly in the ciliary axoneme and has been suggested to be important for ciliary function. However, its relationship to disorders of the primary cilium, termed ciliopathies, has not been explored. Here we mapped a new locus for Joubert syndrome (JBTS), which we have designated as JBTS15, and identified causative mutations in CEP41, which encodes a 41-kDa centrosomal protein.

Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

Oral-Facial-Digital Syndrome type VI (OFD VI) represents a rare phenotypic subtype of Joubert syndrome and related disorders (JSRD). In the original report polydactyly, oral findings, intellectual disability, and absence of the cerebellar vermis at post-mortem characterized the syndrome. Subsequently, the molar tooth sign (MTS) has been found in patients with OFD VI, prompting the inclusion of OFD VI in JSRD.