scholarly journals Eye Manifestations of Shprintzen–Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review

2020 ◽  
Vol 2020 ◽  
pp. 1-5
Author(s):  
Jamie H. Choi ◽  
Rachel Li ◽  
Rachel Gannaway ◽  
Tahnee N. Causey ◽  
Anna Harrison ◽  
...  
Keyword(s):  
Systematic Review ◽  
De Novo ◽  
Mitral Valve Insufficiency ◽  
Ocular Manifestations ◽  
Pathogenic Variants ◽  
Ophthalmic Manifestations ◽  
Valve Insufficiency ◽  
Aortic Root Dilatation ◽  
History Of ◽  
Tissue Abnormalities

Shprintzen–Goldberg craniosynostosis syndrome (SGS) is a rare autosomal dominant condition that was first documented in literature in 1982. The disorder is caused by pathogenic variants in the proto-oncogene SKI gene, a known suppressor of TGF-β activity, located on chromosome 1p36. There is considerable phenotypic overlap with Marfan and Loeys–Dietz syndromes. Common clinical features of SGS include craniosynostosis, marfanoid habitus, hypotonia, dysmorphic facies, cardiovascular anomalies, and other skeletal and connective tissue abnormalities. Ocular manifestations may include hypertelorism, downslanting palpebral fissures, proptosis, myopia, and ectopia lentis. We describe a 25-year-old male with the syndrome. Genetic analysis revealed a novel c.350G>A (p.Arg117His) de novo variant, which was predicted to be pathogenic by the CTGT laboratory. The patient presented with dysmorphic features, marfanoid habitus, severe joint contractures, mitral valve insufficiency, aortic root dilatation, and a history of seizures. His ocular manifestations included hypertelorism, downslanting palpebral fissures, bilateral ptosis, and high myopia. Ophthalmic manifestations are an integral component of the syndrome; however, they have not been well characterized in the literature. From a systematic review of previously published cases to date, we summarize the eye and ocular adnexa manifestations reported.

scholarly journals Epidemiology of disease-activity related ophthalmological manifestations in Systemic Lupus Erythematosus: A systematic review

Lupus ◽  
2021 ◽  
pp. 096120332110503
Author(s):  
Nitish Jawahar ◽  
Jessica K Walker ◽  
Philip I Murray ◽  
Caroline Gordon ◽  
John A Reynolds
Keyword(s):  
Systematic Review ◽  
Systemic Lupus Erythematosus ◽  
Disease Activity ◽  
Lupus Erythematosus ◽  
Systemic Disease ◽  
Retinal Vasculitis ◽  
Small Sample ◽  
Systemic Lupus ◽  
Ocular Manifestations ◽  
Ophthalmic Manifestations

Objective Ophthalmic complications in Systemic Lupus Erythematosus (SLE) are broad and can occur in up to a third of patients. The British Isles Lupus Assessment Group (BILAG) 2004 Index identifies 13 ocular manifestations of active SLE, as opposed to those related to previous disease activity and/or the consequences of therapy. We conducted a systematic review of published literature to determine the frequency of ophthalmic manifestations of active SLE. Methods A systematic literature search of Ovid MEDLINE and EMBASE from their respective inceptions to July 2020 was conducted to identify cohort, case–control and cross-sectional studies. Results 22 studies meeting eligibility criteria were included. Most studies featured small sample sizes and were judged to have a high risk of methodological bias. The number and quality of studies did not allow us to confidently estimate the incidence of the conditions. No studies reported epidemiological data for orbital inflammation/myositis/proptosis. The prevalence of each of the other ocular manifestations, with the exception of retinal vaso-occlusive disease, was consistently less than 5%. Retinal vasculitis, uveitis and isolated cotton wool spots tended to be associated with more active SLE disease. Conclusion The prevalence of eye disease due to SLE activity is uncommon, but clinicians should be aware that some conditions tend to be associated with more active systemic disease. Further studies to determine the incidence and risk factors for these ophthalmic manifestations are needed.

scholarly journals ALCAPA Presents in an Adult with Exercise Intolerance but Preserved Cardiac Function

2012 ◽  
Vol 2012 ◽  
pp. 1-3
Author(s):  
Yan Liu ◽  
Beth W. Miller
Keyword(s):  
Mitral Valve ◽  
Pulmonary Artery ◽  
Mitral Valve Insufficiency ◽  
Left Ventricular ◽  
Exercise Intolerance ◽  
Surgical Reconstruction ◽  
Cardiac Symptoms ◽  
Normal Left Ventricular ◽  
Valve Insufficiency ◽  
History Of

Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital anomaly that usually manifests as severe left-sided heart failure and mitral valve insufficiency during the first one to two months of life. The majority of these cases die in infancy if not corrected early upon presentation. Adulthood presentation is rare and most of the untreated patients who reach adulthood present with left ventricular dysfunction, severe mitral regurgitation, and sometimes myocardial infarction. Here we report a case of a 20-year-old woman with a history of exercise intolerance since childhood that was misinterpreted as asthma until a 2D-Echo revealed ALCAPA with RCA collaterals to the left anterior descending artery, preserved LV ejection fraction, and absence of apparent mitral valve abnormality. One month after the ALCAPA diagnosis, she successfully underwent surgical reconstruction of left main and pulmonary artery without any major complications. She had normal left ventricular function without apparent ischemic cardiac symptoms eighteen months after procedure.

scholarly journals Coffin-Lowry preprint 2018

2018 ◽  
Author(s):  
Paolo Moretti
Keyword(s):  
Family History ◽  
Clinical Features ◽  
De Novo ◽  
Severe Disease ◽  
Immunosuppressive Treatment ◽  
Pathogenic Variant ◽  
First Degree Relatives ◽  
Pathogenic Variants ◽  
History Of ◽  
Psychiatric Manifestations

Coffin-Lowry syndrome is an X-linked disease caused by pathogenic variants in RPS6KA3. The disease generally causes severe neurologic and non-neurologic abnormalities in males, and more variable phenotypes in females, including psychiatric manifestations. The majority of cases occur in the absence of known family history of the disease, and women carrying a de novo pathogenic variant may be undiagnosed due to the absence of severe disease manifestations or typically affected first-degree relatives. We describe the clinical features of a woman of normal intellect carrying a novel RPS6KA3 pathogenic variant in whom psychiatric manifestations and encephalopathy responded to immunosuppressive treatment.

A De Novo Mosaic PHEX Variant Causing Sporadic X-Linked Hypophosphatemic Rickets in a 2-Year-Old Girl

2021 ◽  
Author(s):  
Kok-Siong Poon ◽  
Karen Mei-Ling Tan ◽  
Margaret Zacharin ◽  
Cindy Wei-Li Ho
Keyword(s):  
De Novo ◽  
Sporadic Case ◽  
Hypophosphatemic Rickets ◽  
Genu Varum ◽  
Splice Donor ◽  
Mosaic Pattern ◽  
Pathogenic Variants ◽  
Phex Gene ◽  
History Of ◽  
Generation Sequencing

AbstractPathogenic variants in the PHEX gene are causative of X-linked hypophosphatemic rickets (XLH). We present a case of a 2-year-old girl with hypophosphatemic rickets with genu varum and short stature without any family history of XLH. Next generation sequencing of the PHEX gene identified a splice donor variant, NM_000444.6:c.1173 + 5G > A in intron 10. This variant had a mosaic pattern with only 22% of the sequence reads showing the variant allele and was not present in the girl's parents, both of whom had a normal phenotype. This is a sporadic case of a de novo mosaic splice-site variant in the PHEX gene.

scholarly journals Primary hyperaldosteronism presenting as persistent postpartum hypertension: Illustrative case and systematic review

2018 ◽  
Vol 12 (4) ◽  
pp. 190-195
Author(s):  
Caitlin Kilmartin ◽  
Touhid Opu ◽  
Tiina Podymow ◽  
Natalie Dayan
Keyword(s):  
Systematic Review ◽  
Postpartum Period ◽  
De Novo ◽  
Primary Hyperaldosteronism ◽  
Illustrative Case ◽  
Hypertensive Disorders Of Pregnancy ◽  
Hypertensive Disorders ◽  
Fetal Complications ◽  
History Of ◽  
High Index Of Suspicion

We present a case of persistent postpartum hypertension found to be secondary to primary hyperaldosteronism in a woman with a history of recurrent hypertensive disorders of pregnancy and associated fetal complications. Our systematic review revealed only 18 cases of primary aldosteronism diagnosed in women with postpartum hypertension, suggesting that this disorder is under-studied in the postpartum period. A review of these cases suggests that women with primary hyperaldosteronism commonly present with hypertensive disorders of pregnancy, but may only be identified de novo postpartum. However, a high index of suspicion is needed to diagnose primary hyperaldosteronism in the postpartum period, guided by a woman’s obstetric history.

Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome

2021 ◽  
pp. 1-5
Author(s):  
Hiroaki Murakami ◽  
Tomoko Uehara ◽  
Yumi Enomoto ◽  
Naoto Nishimura ◽  
Tatsuro Kumaki ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Autosomal Dominant ◽  
De Novo ◽  
Autosomal Dominant Disorder ◽  
Immune Systems ◽  
Ocular Manifestations ◽  
Pathogenic Variants ◽  
Persistent Hyperplastic Primary Vitreous ◽  
Clinical Presentations ◽  
The Brain

Okur-Chung neurodevelopmental syndrome is a rare autosomal dominant disorder caused by pathogenic variants in <i>CSNK2A1</i>, which encodes the alpha 1 catalytic subunit of ­casein kinase II. This syndrome is characterized by intellectual disability, developmental delay, and multisystemic ­abnormalities including those of the brain, extremities, and skin as well as cardiovascular, gastrointestinal, and immune systems. In this study, we describe a 5-year-old boy with a de novo novel nonsense variant in <i>CSNK2A1</i>, NM_001895.3:c.319C&#x3e;T (p.Arg107*). He showed bilateral persistent hyperplastic primary vitreous with microphthalmia, lens dysplasia, and coloboma. Ocular manifestations are very rare in this syndrome, and this study expands the spectrum of the clinical presentations of this syndrome.

Natural history of adrenal incidentalomas with and without mild autonomous cortisol excess; a systematic review and meta-analysis

2018 ◽  
Author(s):  
Yasir Elhassan ◽  
Fares Alahdab ◽  
Alessandro Prete ◽  
Danae Delivanis ◽  
Aakanksha Khanna ◽  
...  
Keyword(s):  
Systematic Review ◽  
Natural History ◽  
Meta Analysis ◽  
Adrenal Incidentalomas ◽  
History Of

A Complex Mitral Valve Reconstruction: A Case Report

2005 ◽  
Vol 6 (2) ◽  
pp. 27
Author(s):  
Dimitrios Buklas ◽  
Massimo Massetti ◽  
Eric Saloux ◽  
Eugenio Neri ◽  
Olivier LePage ◽  
...  
Keyword(s):  
Mitral Valve ◽  
Surgical Techniques ◽  
Mitral Valve Insufficiency ◽  
Left Ventricular ◽  
Mitral Valve Reconstruction ◽  
Mitral Repair ◽  
Valve Reconstruction ◽  
Valve Insufficiency ◽  
Valve Function ◽  
Valvular Function

Several techniques are currently in use for mitral valve reconstruction. We report a mitral repair case in which the use of a combination of different surgical techniques resulted in the necessary correction. A 47-year-old woman underwent surgical intervention to treat severe mitral valve insufficiency due to A1/A2/A3 and P2 prolapsed valve tissue. A combination of quadrangular resection, sliding leaflet, single chordal transposition, "flip-over" leaflet, and ring annuloplasty techniques were applied, and postsurgical correct valve function was documented by results of a left ventricular saline filling test and transesophageal echocardiography control. Complex mitral valve repairing techniques can be combined to reestablish valvular function.

Dental Implant Placement in Patients with a History of Medications Related to Osteonecrosis of the Jaws: A Systematic Review

2020 ◽  
Author(s):  
Judd Sher ◽  
Kate Kirkham-Ali ◽  
Denny Luo ◽  
Catherine Miller ◽  
Dileep Sharma
Keyword(s):  
Systematic Review ◽  
At Risk ◽  
Drug Therapy ◽  
Dental Implant ◽  
Case Series ◽  
Cochrane Central Register ◽  
Bisphosphonate Treatment ◽  
Implant Placement ◽  
Increased Risk ◽  
History Of

The present systematic review evaluates the safety of placing dental implants in patients with a history of antiresorptive or antiangiogenic drug therapy. The Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) guidelines were followed. PubMed, Cochrane Central Register of Controlled Trials, Scopus, Web of Science, and OpenGrey databases were used to search for clinical studies (English only) to July 16, 2019. Study quality was assessed regarding randomization, allocation sequence concealment, blinding, incomplete outcome data, selective outcome reporting, and other biases using a modified Newcastle-Ottawa scale and the Joanna Briggs Institute critical appraisal checklist for case series. A broad search strategy resulted in the identification of 7542 studies. There were 28 studies reporting on bisphosphonates (5 cohort, 6 case control, and 17 case series) and one study reporting on denosumab (case series) that met the inclusion criteria and were included in the qualitative synthesis. The quality assessment revealed an overall moderate quality of evidence among the studies. Results demonstrated that patients with a history of bisphosphonate treatment for osteoporosis are not at increased risk of implant failure in terms of osseointegration. However, all patients with a history of bisphosphonate treatment, whether taken orally for osteoporosis or intravenously for malignancy, appear to be at risk of ‘implant surgery-triggered’ MRONJ. In contrast, the risk of MRONJ in patients treated with denosumab for osteoporosis was found to be negligible. In conclusion, general and specialist dentists should exercise caution when planning dental implant therapy in patients with a history of bisphosphonate and denosumab drug therapy. Importantly, all patients with a history of bisphosphonates are at risk of MRONJ, necessitating this to be included in the informed consent obtained prior to implant placement. The James Cook University College of Medicine and Dentistry Honours program and the Australian Dental Research Foundation Colin Cormie Grant were the primary sources of funding for this systematic review.

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