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1.  A 14-year-old girl with a sudden arm swelling after axillary depilatory wax 
BMJ Case Reports  2009;2009:bcr01.2009.1480.
Takayasu’s arteritis is a systemic vasculitis predominantly affecting the aorta and its major branches. We report a 14-year-old girl in whom incidentally a deep upper limb vein thrombosis was found. She was referred to the emergency unit due to swelling and intermittent cyanosis of the right arm following an axillary depilatory wax. High-resolution echo colour Doppler ultrasonography showed a deep vein thrombosis with thickening of the proximal common carotids. A diagnosis of type IIb Takayasu’s arteritis was made. The patient’s history revealed fatigue, myalgia and headache. Immunosuppressive treatment and anticoagulation were introduced with a rapid and sustained improvement.
PMCID: PMC3028127  PMID: 21687009
2.  Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes 
Nature genetics  2010;42(7):619-625.
Joubert syndrome (JBTS), related disorders (JSRD) and Meckel syndrome (MKS) are ciliopathies. We now report that MKS2 and JBTS2 loci are allelic and due to mutations in TMEM216, encoding an uncharacterized tetraspan transmembrane protein. JBTS2 patients displayed frequent nephronophthisis and polydactytly, and two cases conformed to the Oro-Facio-Digital type VI phenotype, whereas skeletal dysplasia was common in MKS fetuses. A single p.R73L mutation was identified in all patients of Ashkenazi Jewish descent (n=10). TMEM216 localized to the base of primary cilia, and loss of TMEM216 in patient fibroblasts or following siRNA knockdown caused defective ciliogenesis and centrosomal docking, with concomitant hyperactivation of RhoA and Dishevelled. TMEM216 complexed with Meckelin, encoded by a gene also mutated in JSRD and MKS. Abrogation of tmem216 expression in zebrafish led to gastrulation defects that overlap with other ciliary morphants. The data implicate a new family of proteins in the ciliopathies, and further support allelism between ciliopathy disorders.
PMCID: PMC2894012  PMID: 20512146

Results 1-2 (2)