"Aagenaes syndrome"

Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5'-untranslated region of UNC45A. Lymphedema cholestasis syndrome 1 or Aagenaes syndrome is a syndrome with neonatal cholestasis, lymphedema, and giant cell hepatitis. The genetic background of this autosomal recessive disease has been unknown. 26 patients with Aagenaes syndrome and 17 parents were of the Unc-45 Myosin Chaperone A (UNC45A) was identified in all tested patients with Aagenaes syndrome. 19 were homozygous for the c.-98G>T variant and 7 were compound heterozygous for the variant in the 5'-untranslated region and an exonic loss-of-function variant in UNC45A. Patients with Aagenaes syndrome exhibited lower expression of UNC45A mRNA and protein than controls, and this was reproduced

MicroRNA in dried blood spots from patients with Aagenaes syndrome and evaluation of pre-analytical and analytical factors. Circulatory miRNAs are promising biomarkers. The feasibility of using miRNA from dried blood spots (DBS) was investigated using newborn screening cards from patients with cholestasis-lymphedema syndrome (Aagenaes syndrome) and controls. Total amount of miRNA and specific miRNAs from DBS were analyzed. miRNA was also obtained from newborn screening cards in patients with cholestasis-lymphedema syndrome/Aagenaes syndrome and in healthy newborns. No differences in miRNA concentrations were found between multispotted samples and samples with one single drop of blood and between central and peripheral punches. Ten repeated freeze-thaw cycles did not significantly change

Quality of life in adults with lymphedema cholestasis syndrome 1 LCS1 (Lymphedema Cholestasis Syndrome 1/Aagenaes syndrome) is a rare, hereditary disorder, where the highest known prevalence is in Norway. The disorder is characterized by lymphedema and periodic cholestasis from birth or the neonatal period. This study aimed to examine internal reliability of the SF-36, in addition to the group's

streaks in aagenaes syndrome. Int Ophthalmol. 2016 Sep 10. [QxMD MEDLINE Link]. 14. Ungureanu E, Geamanu A, Careba I, Grecescu M, Gradinaru S. Angioid streaks - a rare cause of neovascular glaucoma. Case report. J Med Life. 2014. 7 Spec No. 4:71-3. [QxMD MEDLINE Link]. 15. Chalam KV, Sambhav K. Optical Coherence Tomography Angiography in Retinal Diseases. J Ophthalmic Vis Res. 2016

streaks in aagenaes syndrome. Int Ophthalmol. 2016 Sep 10. [QxMD MEDLINE Link]. 14. Ungureanu E, Geamanu A, Careba I, Grecescu M, Gradinaru S. Angioid streaks - a rare cause of neovascular glaucoma. Case report. J Med Life. 2014. 7 Spec No. 4:71-3. [QxMD MEDLINE Link]. 15. Chalam KV, Sambhav K. Optical Coherence Tomography Angiography in Retinal Diseases. J Ophthalmic Vis Res. 2016

. Shoumnalieva-Ivanova V, Tanev I, Zdravkov Y, Monov S, Shumnalieva R. Angioid streaks in aagenaes syndrome. Int Ophthalmol. 2016 Sep 10. [QxMD MEDLINE Link]. 14. Ungureanu E, Geamanu A, Careba I, Grecescu M, Gradinaru S. Angioid streaks - a rare cause of neovascular glaucoma. Case report. J Med Life. 2014. 7 Spec No. 4:71-3. [QxMD MEDLINE Link]. 15. Chalam KV, Sambhav K. Optical

. Shoumnalieva-Ivanova V, Tanev I, Zdravkov Y, Monov S, Shumnalieva R. Angioid streaks in aagenaes syndrome. Int Ophthalmol. 2016 Sep 10. [QxMD MEDLINE Link]. 14. Ungureanu E, Geamanu A, Careba I, Grecescu M, Gradinaru S. Angioid streaks - a rare cause of neovascular glaucoma. Case report. J Med Life. 2014. 7 Spec No. 4:71-3. [QxMD MEDLINE Link]. 15. Chalam KV, Sambhav K. Optical

Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome. Lymphedema-cholestasis syndrome (LCS, Aagenaes syndrome) is the only known form of hereditary lymphedema associated with cholestasis. A locus, LCS1, has recently been mapped to chromosome 15q in a Norwegian kindred. In a consanguine Serbian Romani family with a neonate who had a combination of lymphedema and cholestasis

Mapping of the Locus for Cholestasis-Lymphedema Syndrome (Aagenaes Syndrome) to a 6.6-cM Interval on Chromosome 15q Patients with cholestasis-lymphedema syndrome (CLS) suffer severe neonatal cholestasis that usually lessens during early childhood and becomes episodic; they also develop chronic severe lymphedema. The genetic cause of CLS is unknown. We performed a genome screen, using DNA from

Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome). We report a mother and daughter with features of Aagenaes syndrome. Unlike most previous cases, there is no Norwegian ancestry and the pedigree favours dominant rather than recessive inheritance.

Do patients with lymphoedema cholestasis syndrome 1/Aagenaes syndrome need dietary counselling outside cholestatic episodes? Patients with lymphoedema cholestasis syndrome 1/Aagenaes Syndrome need a fat reduced diet when cholestatic. We wanted to assess the need for dietary counselling outside cholestatic episodes, and hypothetized that no counselling was needed. Fifteen patients above 10 years

such as Milroy disease, Meige lymphedema, Hennekam syndrome, Njolstad syndrome, Aagenaes syndrome, and Fabry disease, hypotension or at risk for hypotension, seizures or history of seizures, any significant cardiovascular risk factors and any condition which requires participants to use nitric oxide donors or nitrates in any form, underlying anatomic or vascular risk factor for developing non-arteritic

, Njolstad syndrome, Aagenaes syndrome, and Fabry disease; hypotension or at risk for hypotension; seizures or history of seizures; any significant cardiovascular risk factors and any condition which requires participants to use nitric oxide donors or nitrates in any form; underlying anatomic or vascular risk factors for developing non-arteritic anterior ischemic optic neuropathy (NAION) including low