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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
4.
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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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6.
A novel maternally inherited 8q24.3 and a rare paternally inherited 14q23.3 CNVs in a family with neurodevelopmental disorders
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Kathleen?E.?O’NeillEmail author Suneeta?Senapati Ivy?Maina Clarisa?Gracia Anuja?Dokras 《Journal of assisted reproduction and genetics》2016,33(9):1175-1184
Purpose
The purpose of this study was to compare rates of ovarian hyperstimulation syndrome (OHSS) after using gonadotropin-releasing hormone agonists (GnRHa) alone and GnRHa in combination with low-dose human chorionic gonadotropin (hCG, dual trigger) for final oocyte maturation in women undergoing controlled ovarian hyperstimulation (COH).Methods
A retrospective cohort study was conducted at an academic center. Study population included 108 women who received GnRHa trigger and 66 women who received dual trigger (GnRHa?+?low-dose [1000 IU] hCG trigger). The main outcome measure was OHSS. Secondary outcomes included total oocyte yield and oocyte maturity.Results
The incidence of early OHSS was significantly higher after dual trigger than GnRHa trigger (8.6 vs 0 %). Moreover, four of the six patients that developed OHSS developed severe OHSS. Logistic modeling revealed that the combination of age, BMI, baseline AFC, and E2 >4000 pg/mL was predictive of OHSS with an area under the receiver operating characteristic curve of 0.84 and was superior to each factor alone. Adjusted analyses revealed that dual trigger was associated with a higher number of total oocytes (adjusted OR 1.27; 95 % confidence interval, 1.18, 1.38) and percentage of mature oocytes (AOR 1.10; 95 % confidence interval, 1.03, 1.17) obtained compared to GnRHa trigger alone.Conclusions
Dual trigger for final oocyte maturation using GnRHa and low-dose hCG is associated with a significantly increased risk of severe OHSS compared to GnRH alone. However, dual trigger may be associated with a modest increase in oocyte yield, both in terms of number and maturity.8.
Suneeta Dubey Deepti Mittal Saptarshi Mukherjee Madhu Bhoot Yadunandan P Gupta 《Indian journal of ophthalmology》2020,68(11):2427
Purpose:The aim of this study is to study the association between Nocturnal Intraocular Pressure (IOP) related Peak recorded by a Contact Lens Sensor (CLS) and glaucoma progression in treated glaucomatous eyes.Methods:Institutional study in which forty glaucoma patients were recruited from glaucoma clinic. A total of 19 patients were labeled as progressors on current anti-glaucoma treatment despite controlled day time IOP whereas twenty one patients were clinically stable showing no progression. Worse eye of each patient was selected for placement of CLS. The timing of the highest signal (IOP related peak) was noted in 24 hour CLS graph and if it fell within the time frame of 11 pm to 5 am, it was labeled as ''nocturnal IOP related peak''.Results:Progressors were found to be significantly more prone to night spike than Non Progressors (χ2 = 6.812; n = 40; P = 0.009), thus, showing a definite association between the two. Association between Nocturnal IOP related peak and various other variables like age, gender, mean daytime IOP and systemic illness was studied. A positive correlation was established between female gender and Nocturnal IOP related spike with a significantly higher proportion of females showing night spike than their male counterparts (χ2 = 5.763; n = 40; P = 0.016). Other parameters did not show any significant relationship with Nocturnal IOP related spike.Conclusion:Dynamic 24 hour recording by CLS is beneficial in detecting nocturnal IOP-related peak, and thus, can potentially improve the clinical care of glaucoma patients, especially those showing progression. 相似文献
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Vatsla Dadhwal Deepika Deka Bhaswati Ghosh Suneeta Mittal 《Archives of gynecology and obstetrics》2009,280(5):799-801