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Sturge-Weber syndrome is a rare neurocutaneous disorder characterized by a facial nevus flammeus and extensive angiomatous changes involving the leptomeninges, the dura, and vessels of the gray and white matter. Oculodermal melanocytosis is characterized by hyperpigmentation of the facial skin in the distribution of the ophthalmic, maxillary, and occasionally mandibular division of the trigeminal nerve. 相似文献
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Megan E. Rech John M. McCarthy Chun‐An Chen Jane C. Edmond Veeral S. Shah Daniëlle G. M. Bosch Gerard T. Berry Linford Williams Suneeta Madan‐Khetarpal Dmitriy Niyazov Charles Shaw‐Smith Erin M. Kovar Philip J. Lupo Christian P. Schaaf 《American journal of medical genetics. Part A》2020,182(6):1426-1437
Bosch–Boonstra–Schaaf Optic Atrophy Syndrome (BBSOAS) is an autosomal dominant neurodevelopmental disorder caused by loss‐of‐function variants in NR2F1 and characterized by visual impairment, developmental delay, and intellectual disability. Here we report 18 new cases, provide additional clinical information for 9 previously reported individuals, and review an additional 27 published cases to present a total of 54 patients. Among these are 22 individuals with point mutations or in‐frame deletions in the DNA‐binding domain (DBD), and 32 individuals with other types of variants including whole‐gene deletions, nonsense and frameshift variants, and point mutations outside the DBD. We corroborate previously described clinical characteristics including developmental delay, intellectual disability, autism spectrum disorder diagnoses/features thereof, cognitive/behavioral anomalies, hypotonia, feeding difficulties, abnormal brain MRI findings, and seizures. We also confirm a vision phenotype that includes optic nerve hypoplasia, optic atrophy, and cortical visual impairment. Additionally, we expand the vision phenotype to include alacrima and manifest latent nystagmus (fusional maldevelopment), and we broaden the behavioral phenotypic spectrum to include a love of music, an unusually good long‐term memory, sleep difficulties, a high pain tolerance, and touch sensitivity. Furthermore, we provide additional evidence for genotype–phenotype correlations, specifically supporting a more severe phenotype associated with DBD variants. 相似文献
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Jo-Lynn S. Tan Niranjan Sathianathen Marcus Cumberbatch Prokar Dasgupta Alexandre Mottrie Ronney Abaza Koon Ho Rha Thyavihally B. Yuvaraja Dipen J. Parekh Umberto Capitanio Rajesh Ahlawat Sudhir Rawal Nicolò M. Buffi Ananthakrishnan Sivaraman Kris K. Maes Gagan Gautam Francesco Porpiglia Levent Turkeri Mahendra Bhandari Benjamin Challacombe James Roscoe Porter Craig R. Rogers Daniel A. Moon 《BJU international》2021,128(Z3):30-35
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Yuli Y. Kim Lisa D. Levine Sara L. Partington Prakash A. Patel Emily Ruckdeschel Suneeta Senapati Clarisa R. Gracia 《Journal of assisted reproduction and genetics》2020,37(12):3017
PurposePatients with single ventricle anatomy palliated with Fontan operation are at risk for thromboembolism, arrhythmia, and heart failure rendering pregnancy high risk or even contraindicated. Infertility and high rates of first trimester miscarriage are not uncommon. In vitro fertilization (IVF) with or without gestational surrogacy can be an option, but poses risks during ovarian stimulation, oocyte retrieval, and the post-procedural period. We present six cases of women with complex congenital heart disease status post Fontan operation who underwent successful IVF.MethodsCase series from a single-center tertiary care setting.ResultsIndications for referral were cardiac or fertility concerns for pregnancy of the congenital cardiologist. One woman had mild volume overload after oocyte retrieval requiring furosemide and one experienced post-operative colitis. There were no thrombotic complications.ConclusionsA multidisciplinary team-based approach can result in successful oocyte retrieval and IVF in women with complex congenital heart disease and Fontan physiology. 相似文献
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Ahlawat SK 《JOP : Journal of the pancreas》2008,9(2):230-234
Lymphoepithelial cysts of the pancreas are extremely rare, benign, nonneoplastic cysts that may simulate pseudocysts or cystic neoplasm of the pancreas. Endosonographic and cytologic features of pancreatic lymphoepithelial cysts are poorly characterized because of their rarity. However, appropriate prospective diagnosis of pancreatic lymphoepithelial cysts using endoscopic ultrasound-guided fined needle aspiration (EUS-FNA) cytology may permit conservative management because of their benign nature. We conducted a MEDLINE search using the MeSH terms "pancreas", "cyst" and identified 16 patients who were diagnosed with endosonography or computerized tomography (CT) guided fine needle aspiration. Usefulness and pitfalls of EUS- or CT-guided cyst fluid analysis in the pre-operative diagnosis of pancreatic lymphoepithelial cysts are discussed. 相似文献
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Suneeta Dubey Vijeta Sharma Anugya Agrawal Lokesh Chauhan Gordon Douglas 《Saudi Journal of Ophthalmology》2015,29(2):103-108
Purpose
To evaluate the safety and efficacy of Ahmed glaucoma valve (AGV) implantation in refractory glaucoma in Northern Indian eyes.Background
The success rate of trabeculectomy remains low in cases of refractory glaucoma even with the use of antifibrotics. Glaucoma drainage devices have proven to be more efficacious in reducing intraocular pressure (IOP) in these glaucomas.Methods
Retrospective records of 55 consecutive patients who underwent AGV implantation at Dr. Shroff’s Charity Eye Hospital, New Delhi, India from January 2003 to December 2012 were reviewed. Pre-operative data included age, gender, eye laterality, specific diagnosis, number of anti-glaucoma medications, number of prior incisional surgeries, visual acuity and IOP on medical treatment. Postoperative data included visual acuity and IOP on day one, 1 week, 1 month, 3 months, 6 months, 1 year and yearly thereafter, number of anti-glaucoma medications, any complication or additional surgical intervention required. Success was defined as IOP >5 and <22 mmHg with or without treatment.Results
Mean IOP decreased from 39.71 ± 8.99 pre-operatively to 17.52 ± 5.72 mmHg at last follow-up (p < 0.001) and number of medications reduced from 3.27 ± 0.84 to 1.25 ± 0.88 (p < 0.001). Visual acuity remained within one Snellen line or improved at last follow-up in 47 cases (85.4%). The cumulative probability of success was 85.45% at 1 year and 79.63% at 3 years. The incidence of post-operative complications was 25.45%.Conclusion
AGV implantation has proven to be safe and is effective in controlling IOP in refractory glaucoma in Northern Indian eyes. 相似文献9.
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