Clinical Findings before the Onset of Myopia in Youth: 4. Parental History of Myopia

1996 ◽  
Vol 73 (4) ◽  
pp. 279-282 ◽  
Author(s):  
DAVID A. GOSS ◽  
TONYA W. JACKSON
2018 ◽  
Vol 7 (2) ◽  
pp. 20-22
Author(s):  
Reddipogu Pavani ◽  
◽  
Kunipuri Sarala ◽  
Akumalla Krishnaveni ◽  
◽  
...  

Author(s):  
Natalie Frede ◽  
Jessica Rojas-Restrepo ◽  
Andrés Caballero Garcia de Oteyza ◽  
Mary Buchta ◽  
Katrin Hübscher ◽  
...  

AbstractHyper-IgE syndromes and chronic mucocutaneous candidiasis constitute rare primary immunodeficiency syndromes with an overlapping clinical phenotype. In recent years, a growing number of underlying genetic defects have been identified. To characterize the underlying genetic defects in a large international cohort of 275 patients, of whom 211 had been clinically diagnosed with hyper-IgE syndrome and 64 with chronic mucocutaneous candidiasis, targeted panel sequencing was performed, relying on Agilent HaloPlex and Illumina MiSeq technologies. The targeted panel sequencing approach allowed us to identify 87 (32 novel and 55 previously described) mutations in 78 patients, which generated a diagnostic success rate of 28.4%. Specifically, mutations in DOCK8 (26 patients), STAT3 (21), STAT1 (15), CARD9 (6), AIRE (3), IL17RA (2), SPINK5 (3), ZNF341 (2), CARMIL2/RLTPR (1), IL12RB1 (1), and WAS (1) have been detected. The most common clinical findings in this cohort were elevated IgE (81.5%), eczema (71.7%), and eosinophilia (62.9%). Regarding infections, 54.7% of patients had a history of radiologically proven pneumonia, and 28.3% have had other serious infections. History of fungal infection was noted in 53% of cases and skin abscesses in 52.9%. Skeletal or dental abnormalities were observed in 46.2% of patients with a characteristic face being the most commonly reported feature (23.1%), followed by retained primary teeth in 18.9% of patients. Targeted panel sequencing provides a cost-effective first-line genetic screening method which allows for the identification of mutations also in patients with atypical clinical presentations and should be routinely implemented in referral centers.


2021 ◽  
Vol 80 (3) ◽  
pp. 1329-1337
Author(s):  
Jure Mur ◽  
Daniel L. McCartney ◽  
Daniel I. Chasman ◽  
Peter M. Visscher ◽  
Graciela Muniz-Terrera ◽  
...  

Background: The genetic variant rs9923231 (VKORC1) is associated with differences in the coagulation of blood and consequentially with sensitivity to the drug warfarin. Variation in VKORC1 has been linked in a gene-based test to dementia/Alzheimer’s disease in the parents of participants, with suggestive evidence for an association for rs9923231 (p = 1.8×10–7), which was included in the genome-wide significant KAT8 locus. Objective: Our study aimed to investigate whether the relationship between rs9923231 and dementia persists only for certain dementia sub-types, and if those taking warfarin are at greater risk. Methods: We used logistic regression and data from 238,195 participants from UK Biobank to examine the relationship between VKORC1, risk of dementia, and the interplay with warfarin use. Results: Parental history of dementia, APOE variant, atrial fibrillation, diabetes, hypertension, and hypercholesterolemia all had strong associations with vascular dementia (p < 4.6×10–6). The T-allele in rs9923231 was linked to a lower warfarin dose (βperT - allele = –0.29, p < 2×10–16) and risk of vascular dementia (OR = 1.17, p = 0.010), but not other dementia sub-types. However, the risk of vascular dementia was not affected by warfarin use in carriers of the T-allele. Conclusion: Our study reports for the first time an association between rs9923231 and vascular dementia, but further research is warranted to explore potential mechanisms and specify the relationship between rs9923231 and features of vascular dementia.


2021 ◽  
Vol 1 (3) ◽  
pp. 100037
Author(s):  
Xiaofu He ◽  
Diana V. Rodriguez-Moreno ◽  
Yael M. Cycowicz ◽  
Keely Cheslack-Postava ◽  
Huilan Tang ◽  
...  

2021 ◽  
Vol 10 (Supplement_1) ◽  
pp. S16-S16
Author(s):  
Ortiz Samuel ◽  
Martínez María Elena ◽  
Morayta Ramírez A

Abstract Background Clostridioides difficile is an important cause of healthcare-associated infections. The epidemiology of C. difficile infection (CDI) in children has changed over the past few decades. There is now a higher incidence in hospitalized children, and there has been an emergence of community-onset infection. Neonates and young infants have high rates of colonization but rarely have symptoms. The well-known risk factor for CDI in children age 2 years or older is antibiotic use. Inflammatory bowel disease and cancer are associated with increased incidence and severity of CDI. Vancomycin or fidaxomicin is recommended for an initial episode of CDI. In environments where access to Vancomycin or Fidaxomycin is limited, it is suggested to use metronidazole for an initial episode of nonsevere CDI only. Methods A series of cases were carried out, in a study period from March to May 2018, total cases 8; the age group, sex, basic diagnosis, clinical findings, diagnostic method, and outcome in hospitalized patients in the Pediatric division of the “CMN 20 de Noviembre, ISSSTE” were described, where there is a total of 377 Sensitive beds, and 53 beds in the pediatric area of which 30 are not sensitive. Results We analyzed 8 cases of diarrhea with identification of C. difficile, in a period of 3 months, where there was a total of 148 admissions to the division of Pediatrics (100%) and presented a prevalence of 0.05% of the total income. Of those 8 cases reported, 37.5% were women and 62.5% men; The age fluctuated between 6 months and 18 years. All children had associated comorbidities. The frequency and type of comorbidities were Cancer 87.5% (Leukemias and Solid Tumors) and Neurological 12.5% ​​(Arterial Malformation and Neurological Sequelae). The main symptom that occurred was mucous diarrhea in 100% of patients, abdominal pain in 25% and evacuation with blood in 12.5% ​​of cases. All had a history of prior treatment with 100% broad-spectrum antibiotics, in a period of less than one month. All were treated with metronidazole (100%) and all presented clinical improvement, without complications; Similarly, all were diagnosed by PCR for toxin B (100%). The attributable risk of presenting Clostridioides disease in patients with Leukemia is 0.11. Conclusions Patients with Leukemia were the most affected during the C. difficile outbreak, of which 11 out of 100 of these patients are at risk of presenting C. difficile disease. The most important thing in these cases is prevention. Therefore, specific prevention measures were implemented to reduce the possibility of future outbreaks, such as handwashing with chlorexidine, contact isolation, handwashing every time there is contact with the patient, use of gloves when performing procedures, insulation of bedding in plastic bags and training of health personnel.


Sign in / Sign up

Export Citation Format

Share Document