scholarly journals Behavioural Adaptation to Hereditary Macular Dystrophy: A Systematic Review on the Effect of Early Onset Central Field Loss on Peripheral Visual Abilities

2021 ◽  
Vol 17 (1) ◽  
pp. 104-118
Author(s):  
Aishah Baig ◽  
David Buckley ◽  
Charlotte Codina
2021 ◽  
pp. 6-16
Author(s):  
Judith  Dekker ◽  
Isabelle Hooijer ◽  
Johannes C.F. Ket ◽  
Aleksandra Vejnović ◽  
Giuseppe Benagiano ◽  
...  

<b><i>Objective:</i></b> Based on the hypothesis that neonatal uterine bleedings (NUB), occurring mostly in the first week after birth, could represent a pathogenetic mechanism for early-onset endometriosis, this systematic review (SR) was undertaken to evaluate the prevalence and screening strategies used to assess and quantify NUB. <b><i>Design:</i></b> Both a SR and a sample literature search in PubMed and Embase were conducted to gather information on NUB prevalence and screening techniques. This was performed by an information specialist. Only full-text articles regarding the assessment of NUB in neonates in the first 2 weeks after birth were included. No limit on language or publication data was used. <b><i>Materials and Methods:</i></b> The SR was registered in PROSPERO (CRD42019138121). Data was first assessed for eligibility on title and abstract by 2 blinded review authors. Any disagreements were discussed with a third reviewer if necessary. Subsequently, full-text articles were read and assessed for quality using the Cochrane Collaboration Handbook. <b><i>Results:</i></b> Out of 1,988 articles in the systematic search, 10 relevant articles were selected, of which 8 were identified through the systematic search and 2 were found through other sources. The sample search of 4,445 articles did not bring up relevant articles. Results were not comparable due to the heterogeneity of screening techniques, although data showed consensus. The prevalence of visible bleeding ranged from 3.3 to 53.8% and the prevalence of occult bleeding from 25.4 to 96.7%. The occurrence was the highest between the 3rd and 7th day postpartum (PP) and the bleeding lasted for 3–4 days on average. Various screening techniques for detecting NUB were found in the literature, including the use of hemoglobin detection devices (such as Hemastix) in the vaginal vestibulum, comparison of diapers with stains of known volume, colposcopy, and ultrasonography. <b><i>Conclusion:</i></b> The reported prevalence of NUB varies considerably, with a consistent occurrence between the 3rd and the 7th day PP. Literature to assess NUB is dated. The techniques are poorly described and heterogeneous. Future research should focus on prospective cohort studies in order to attempt to correlate NUB cases to (early-onset) endometriosis.


2021 ◽  
Vol 14 (12) ◽  
pp. e246005
Author(s):  
Louise Gurowich ◽  
Gabriel Yiin ◽  
Adam Maxwell ◽  
Alexandra Rice

Myasthenia gravis (MG) is an autoimmune condition affecting the neuromuscular junction characterised by weakness and fatiguability, carrying a high morbidity if treatment is delayed. A clear association with thymoma has led to management with thymectomy as a common practice, but MG presenting post-thymectomy has rarely been reported. We present a case of an 82- year-old woman developing fatigue, ptosis and dysarthria 3 months after thymectomy. After a clinical diagnosis of MG was made, she responded well to prompt treatment with prednisolone and pyridostigmine. Her anti-acetylcholine receptor antibody (anti-AChR) subsequently came back positive. Our systematic review reveals that post-thymectomy MG can be categorised as early-onset or late-onset form with differing aetiology, and demonstrated correlation between preoperative anti-AChR titres and post-thymectomy MG. The postulated mechanisms for post-thymectomy MG centre around long-lasting peripheral autoantibodies. Clinicians should actively look for MG symptoms in thymoma patients and measure anti-AChR preoperatively to aid prognostication.


2014 ◽  
Vol 21 (4) ◽  
pp. 563-569 ◽  
Author(s):  
M. A. Lambert ◽  
H. Bickel ◽  
M. Prince ◽  
L. Fratiglioni ◽  
E. Von Strauss ◽  
...  

2015 ◽  
Vol 61 (5) ◽  
pp. 474-483 ◽  
Author(s):  
Giselly Encinas ◽  
Simone Maistro ◽  
Fátima Solange Pasini ◽  
Maria Lucia Hirata Katayama ◽  
Maria Mitzi Brentani ◽  
...  

Summary Objective: our aim was to evaluate whether somatic mutations in five genes were associated with an early age at presentation of breast cancer (BC) or serous ovarian cancer (SOC). Methods: COSMIC database was searched for the five most frequent somatic mutations in BC and SOC. A systematic review of PubMed was performed. Young age for BC and SOC patients was set at ≤35 and ≤40 years, respectively. Age groups were also classified in <30years and every 10 years thereafter. Results: twenty six (1,980 patients, 111 younger) and 16 studies (598, 41 younger), were analyzed for BC and SOC, respectively. In BC, PIK3CA wild type tumor was associated with early onset, not confirmed in binary regression with estrogen receptor (ER) status. In HER2-negative tumors, there was increased frequency of PIK3CA somatic mutation in older age groups; in ER-positive tumors, there was a trend towards an increased frequency of PIK3CA somatic mutation in older age groups. TP53 somatic mutation was described in 20% of tumors from both younger and older patients; PTEN, CDH1 and GATA3 somatic mutation was investigated only in 16 patients and PTEN mutation was detected in one of them. In SOC, TP53 somatic mutation was rather common, detected in more than 50% of tumors, however, more frequently in older patients. Conclusion: frequency of somatic mutations in specific genes was not associated with early-onset breast cancer. Although very common in patients with serous ovarian cancer diagnosed at all ages, TP53 mutation was more frequently detected in older women.


2019 ◽  
Vol 33 (14) ◽  
pp. 2493-2504 ◽  
Author(s):  
Amanda Veiga-Fernández ◽  
Laura Joigneau Prieto ◽  
Teresa Álvarez ◽  
Yolanda Ruiz ◽  
Ricardo Pérez ◽  
...  

2019 ◽  
Vol 99 (2) ◽  
pp. 153-166 ◽  
Author(s):  
Anouk Pels ◽  
Irene M. Beune ◽  
Aleid G. van Wassenaer‐Leemhuis ◽  
Jacqueline Limpens ◽  
Wessel Ganzevoort

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