scholarly journals Universal molecular screening does not effectively detect Lynch syndrome in clinical practice

2017 ◽  
Vol 10 (4) ◽  
pp. 361-371 ◽  
Author(s):  
Beatrice Brennan ◽  
Christine T. Hemmings ◽  
Ian Clark ◽  
Desmond Yip ◽  
Mitali Fadia ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Germ Line ◽  
Familial Cancer ◽  
Case Series ◽  
Molecular Testing ◽  
Molecular Screening ◽  
Mmr Genes ◽  
Case Series Study ◽  
The Mean ◽  
Cancer Clinic

Background: Lynch syndrome (LS) due to an inherited damaging mutation in mismatch repair (MMR) genes comprises 3% of all incident colorectal cancer (CRC). Molecular testing using immunohistochemistry (IHC) for MMR proteins is a recommended screening tool to identify LS in incident CRC. This study assessed outcomes of population-based routine molecular screening for diagnosis of LS in a regional center. Methods: We conducted a prospective, consecutive case series study of universal IHC testing on cases of resected CRC from September 2004–December 2013. Referred cases with abnormal IHC results that attended a familial cancer clinic were assessed according to modified Bethesda criteria (until 2009) or molecular criteria (from 2009). Results: 1612 individuals underwent resection for CRC in the study period and had MMR testing by IHC. Of these, 274 cases (16.9%) exhibited loss of expression of MMR genes. The mean age at CRC diagnosis was 68.1 years (± standard deviation 12.7) and the mean age of those with an IHC abnormality was 71.6 (± 11.8). A total of 82 (29.9%) patients with an abnormal result were seen in a subspecialty familial cancer clinic. Patients aged under 50 ( p = 0.009) and those with loss of MSH6 staining ( p = 0.027) were more likely to be referred and to attend. After germ-line sequencing, 0.6% (10 of 82) were identified as having a clinically significant abnormality. A further eight probands with pathogenic germ-line mutations were identified from other referrals to the service over the same time period. Conclusions: While technically accurate, the yield of ‘universal’ IHC in detecting new Lynch probands is limited by real-world factors that reduce referrals and genetic testing. We propose an alternative approach for universal, incident case detection of Lynch syndrome with ‘one-stop’ MMR testing and sequencing.

scholarly journals Aphakia Correction by Injection of Foldable Intra Ocular Lens in the Anterior Chamber

2013 ◽  
Vol 5 ◽  
pp. OED.S12672
Author(s):  
Kagmeni Giles ◽  
Moukouri Ernest ◽  
Domngang Christelle ◽  
Nguefack-Tsague Georges ◽  
Cheuteu Raoul ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Intraocular Pressure ◽  
Anterior Chamber ◽  
Teaching Hospital ◽  
Case Series ◽  
University Teaching ◽  
Case Series Study ◽  
The Mean ◽  
The University

We assessed the outcomes of the use of anterior chamber foldable lens for unilateral aphakia correction at the University Teaching Hospital of Yaounde. In this retrospective, non-comparative, consecutive case series study, we reviewed the records of patients who underwent an operation for aphakia correction by the means of injection of an angular supported foldable lens between January 2009 and December 2011 in the University Teaching Hospital Yaounde. Student's paired t-test was carried out to compare preoperative and postoperative visual acuity (VA) and intraocular pressure (TOP). P-values less than 0.05 were considered statistically significant. Twenty-one patients were included in the study; twelve were male (57.1%) and nine were female (42.9%). The mean age was 55.38 ± 17.67 years (range 9–75 years). The mean follow-up duration was 5.95 ± 3.14 months (range 2–12 months). The mean logMAR visual acuity was 1.26 ± 0.46 pre-operatively and 0.78 ± 0.57 post-operatively ( P = 0.003). The change in intraocular pressure was not statistically significant. Complications included intraocular hypertension (over 21 mmHg) in 3 patients (14.3%) and macular edema, pupillar ovalization, and retinal detachment in one patient each. The results indicate that injection of an angular support foldable lens in the anterior chamber is a useful technique for the correction of aphakia in eyes without capsular support. More extended follow-up, however, and a larger series of patients are needed to ascertain the effectiveness and safety of this procedure.

scholarly journals Anatomical and Visual Effects of Implantable Phakic Contact Lens on Correction of Myopia

2022 ◽  
Author(s):  
Mahmoud Ekram ◽  
Ahmed Mohamed Kamal Elshafei ◽  
Asmaa Anwar Mohamed ◽  
Mohamed Farouk Sayed Othman Abdelkader
Keyword(s):  
Visual Acuity ◽  
Anterior Chamber ◽  
Contact Lens ◽  
Anterior Segment ◽  
Anterior Chamber Depth ◽  
Case Series ◽  
Care Group ◽  
Case Series Study ◽  
Significant Difference ◽  
The Mean

Abstract Purpose: To evaluate the anatomical effects of implantable phakic contact lens (IPCL) (Care Group, India) on anterior segment and its visual outcomes .Patients and methods: In a prospective interventional case series study, 60 highly myopic eyes of 32 patients were subjected to IPCL implantation in the Ophthalmology Department of Minia University Hospital, Egypt from January 2019 to June 2021. All patients had complete ophthalmic examination and were followed up for 1 year. Pentacam was used for preoperative and postoperative estimation of anterior chamber depth (ACD), anterior chamber angle (ACA), anterior chamber volume (ACV) and IPCL vault in the 1st, 3rd, and 12th months. Assessment of corneal endothelium was done using specular microscope preoperatively and after 12 months. Preoperative and postoperative refraction and visual acuity were measured. Results: There was a statistically significant decrease in ACD, ACA, and ACV. There was no significant difference between preoperative and postoperative mean intraocular pressure (IOP) by the 12th month (P=0.163). The mean preoperative endothelial cell count (ECD) was significantly reduced from 2929.3±248 cells/mm2 to 2737.9±303 cells/mm2 at the 12th month (P<0.001). with a statistically highly significant improvement of mean Log Mar uncorrected visual acuity (UCVA) from 1.48±0.19 preoperatively to 0.46±0.11 by the end of follow up (P<0.001) with insignificant difference between preoperative best corrected visual acuity (BCVA) and postoperative UCVA (P=0.209). In the 12th month, the mean vault was 240±540 μm. No sight threatening complications occurred.Conclusion: Although IPCL induced anatomical changes, it was safe and effective for correction of high myopia.

scholarly journals Early and long-term complications following transanal pull through Soave technique in infants with Hirschsprung's diseaseric infants with Hirschsprung's disease

2019 ◽  
Author(s):  
Manoochehr Ghorbanpour ◽  
Mohammad Ali Seyfrabie ◽  
Babak Yousefi
Keyword(s):  
Intestinal Obstruction ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Statistical Tests ◽  
Case Series ◽  
P Value ◽  
Short Term ◽  
Case Series Study ◽  
The Mean

Objective. Patients undergoing Soave surgery for Hirschsprung's disease are at risk for some complications. The aim of this study was to investigate such short-term and long-term complications and evaluate the outcome of the operation in these patients. Methods. A case series study was carried out during the last 12 years, during 2007 to 2018 in Besat hospital of Hamadan. Data collection conducted using a checklist includes questions about demographic information, clinical features, and short-term and long-term complications, and consequences of post-operative surgery. The findings of the study were analyzed using SPSS software version 20 and appropriate statistical tests. P-value less than 0.05 was considered statistically significant. Results. A total of 55 children underwent Soave surgery during the last 12 years in Besat Hospital Hamadan, Iran. The mean age of the patients was 38±10 days during surgery, of which 56.4% were female. The mean hospital stay was 7.3 days. Also, the mean weight of children at birth was 2970±447 gr. Most of the patients were born as NVD (52.7%) and term (74.5%). The most common comorbidity was congenital heart disease. The most common short-term complication was intestinal obstruction in 14 patients (25.5%) and the most frequent long-term complication was intestinal obstruction and constipation (27.3% each cases). The mortality rate of patients in this study was 14.5% in total. Conclusions. One stage surgical procedure in Hirschsprung's disease is a safe and effective method, but care should be taken in choosing patients and patients should be monitored for possible complications, so that they can be considered and implemented for proper treatment.

scholarly journals Triple Procedure for Dense Cataractous Neovascular Glaucoma Patients

2020 ◽  
Vol 2020 ◽  
pp. 1-7
Author(s):  
Hossam M. Moharram ◽  
Shaaban Abd-Elhamid Mehany Elwan ◽  
Mahmoud M. Nassar ◽  
Mohamed F. Abdelkader
Keyword(s):  
Case Series ◽  
Neovascular Glaucoma ◽  
Panretinal Photocoagulation ◽  
Case Series Study ◽  
Triple Procedure ◽  
Distant Visual Acuity ◽  
Pars Plana ◽  
The Mean ◽  
Series Study

Purpose. One of the most difficult refractory glaucomas is the neovascular type (NVG), and its association with dense cataract adds to this difficulty. This study aimed to provide results of the triple surgical procedure for such conditions. Methods. 12 eyes of 12 patients with NVG and dense cataract were included in this case series study. The mean age of patients was 57.25 ± 5.9 years. The mean preoperative intraocular pressure (IOP) was 47.25 ± 4.04 mmHg with maximum antiglaucoma therapy. The mean best corrected distant visual acuity (BCDVA) in LogMAR was 2.13 ± 0.38. All patients received intravitreal injection of 1.25 mg (0.05 ml) bevacizumab followed by phacoemulsification, pars plana vitrectomy (PPV) including panretinal photocoagulation (PRP), and trabeculectomy with mitomycin C (MMC). Mean IOP and BCDVA changes were the main outcome results of this study. Results. The follow-up period was 2 years. The mean BCDVA was improved to 1.22 ± 0.35, 1.13 ± 0.34, 1.12 ± 0.37, 1.06 ± 0.38, and 1.01 ± 0.37 at 1, 3, 6, 12, and 24 months, respectively, after this procedure. This improvement was statistically significant when compared with preoperative BCDVA (P<0.0001). The mean postoperative IOP was dropped to 20.08 ± 4.1, 17.08 ± 2.1, 17.17 ± 5, 15.75 ± 4.7, and 16.17 ± 6.1 mmHg, respectively. At the last follow-up, the mean IOP was statistically significantly lower than preoperative IOP (P<0.0001) at the previously mentioned time points. The success rate was complete in 90.9% of eyes and qualified in 100% of eyes. Iris and angle neovascularization had regressed significantly in all patients, and no serious complications occurred during the follow-up period. Conclusions. This triple surgery can safely improve patients with NVG and dense cataract regarding BCDVA and IOP control. This trial is registered with NCT04143620.

scholarly journals Mobile App for Pre- and Intraoperative Assessment of Astigmatism Correction with Toric Intraocular Lenses in Cataract Surgery

2020 ◽  
Vol 2020 ◽  
pp. 1-7
Author(s):  
Francisco Aecio Fernandes Dias ◽  
Vinicius Jose Fernandes Dias ◽  
Barbara de Araujo Lima Dutra ◽  
Anna Christina Siqueira Marques ◽  
Edgar Marçal ◽  
...  
Keyword(s):  
Cataract Surgery ◽  
Case Series ◽  
Mobile App ◽  
Mean Difference ◽  
Ease Of Use ◽  
Intraocular Lenses ◽  
Toric Iol ◽  
Astigmatism Correction ◽  
Case Series Study ◽  
The Mean

Purpose. To develop a mobile app that allows capturing and editing of photographs, performs image transposition and projection of a protractor with 360° axis markings, and permits accurate visualization of programmed alignment for the positioning of toric intraocular lenses (IOLs). Methods. In this prospective case series study, a codesign methodology was chosen to develop the Eye Axis Check application. After app development, measurements were obtained and comparisons were made between manual marks and toric IOL alignment without and with the app in 30 eyes that had undergone cataract surgery with toric IOLs. The mobile app was made available to 15 ophthalmic surgeons in different cities to assess its usability. Results. The users approved the developed application for its ease of use and utility. The mean difference between the markings made manually and those made with the app was 1° (±2°; range: 0°–5°), and the mean difference between the IOL position and the assessment made by the app was 3° (±3°; range: 0°–12°). Upon comparison of the agreement between the app measurements and the manual measurements for the IOL angle, no significant differences were found, and an excellent concordance (0.997) and a strong positive linear correlation (0.995) were observed. Conclusion. A mobile app for preoperative planning and intraoperative toric IOL alignment was developed and revealed to be useful and easy to use.

scholarly journals Clinical profile of SUNCT/SUNA in Japan: A clinic-based study

2019 ◽  
Vol 2 ◽  
pp. 251581631982990 ◽  
Author(s):  
Shoji Kikui ◽  
Junichi Miyahara ◽  
Hanako Sugiyama ◽  
Kentaro Yamakawa ◽  
Yoshihiro Kashiwaya ◽  
...  
Keyword(s):  
Case Series ◽  
Japanese Patients ◽  
Preventive Therapy ◽  
Short Term ◽  
Case Series Study ◽  
Clinical Profiles ◽  
The Mean ◽  
Series Study ◽  
Headache Center

Objectives: This study aimed to report the clinical profiles of patients with short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing (SUNCT)/short-lasting unilateral neuralgiform headache attacks with cranial autonomic (SUNA) in a Japanese population by surveying those enrolled at a regional headache center in Japan. Methods: In this consecutive case series study, the clinical characteristics of patients with SUNCT (eight men, three women; mean age: 59.5 ± 20.5 years) and SUNA (five men, four women; mean age: 51.3 ± 18.4 years) who visited Tominaga Hospital from February 2011 to January 2017 were examined. Headaches were diagnosed according to the International Classification of Headache Disorders, Third edition (ICHD-3) guidelines. Results: Brief clusters of separate attacks were reported by all patients. The mean duration of attacks was 91.9 ± 87.9 s. Ipsilateral rhinorrhea was observed in 9 of 20 (45.0%) cases and facial sweating was observed in 1 of 20 (5.0%) cases. An eminent response to lamotrigine was observed in 9 of 9 (100%) patients; however, adverse events were only reported in 2 of 9 (22.2%) cases. An intravenous infusion of lidocaine was demonstrated to be completely successful for short-term prevention in 5 of 6 (83.3%) SUNCT cases. Conclusions: Lamotrigine can successfully treat most patients, and intravenous lidocaine is useful for the short-term preventive therapy of severe recalcitrant attacks in Japanese patients with SUNCT/SUNA.

Functional and Radiographic Outcomes of Minimally Invasive Intramedullary Nail Device (MIIND) for Moderate to Severe Hallux Valgus

2020 ◽  
pp. 107110072096967
Author(s):  
Carlo Biz ◽  
Alberto Crimì ◽  
Ilaria Fantoni ◽  
Jacopo Tagliapietra ◽  
Pietro Ruggieri
Keyword(s):  
Hallux Valgus ◽  
Case Series ◽  
Radiographic Outcomes ◽  
Case Series Study ◽  
Significant Correction ◽  
The Mean ◽  
Series Study ◽  
Severe Hallux Valgus

Background: This study was aimed at assessing clinical and radiographic outcomes of the Minimally Invasive Intramedullary Nail Device (MIIND) to correct moderate to severe hallux valgus (HV) and the long-term persistence of its effects. Methods: This case series study involved 100 patients, 84 women and 16 men (mean age, 59 years), who underwent the MIIND procedure with a mean follow-up of 97 months. Assessment was performed preoperatively, postoperatively, at 6 and 12 months, and at last follow-up. Clinical outcomes were evaluated with American Orthopaedic Foot & Ankle Society (AOFAS) scores, visual analog scale (VAS), and patient satisfaction. Intermetatarsal angle (IMA), metatarsophalangeal hallux valgus angle (HVA), distal metatarsal articular angle (DMAA), and tibial sesamoid position were assessed. Statistical analysis was performed. Results: The mean AOFAS score improved from 57.9 to 90.5 points, VAS scale was 1.5 ± 2.0, and patients’ satisfaction was 8.7 ± 1.4. The mean correction of the HVA and IMA showed a significant correction; however, the effect of time was not statistically significant on DMAA. Sex ( P = .047), severity ( P = .050), associated procedures ( P = .000), and preoperative angle ( P = .000) showed significant association with HVA correction and its persistence over time. Age was not statistically significant. Complications were 9 cases of superficial wound infection and 6 recurrences. Conclusions: The MIIND technique proved a viable procedure to correct moderate to severe HV with a low rate of complications and recurrence, producing significant correction of most radiographic parameters assessed and their persistence, even at long term. Level of Evidence: Level IV, case series study.

Partial capitate shortening for Kienböck’s disease

2014 ◽  
Vol 40 (9) ◽  
pp. 957-960 ◽  
Author(s):  
A. Citlak ◽  
U. Akgun ◽  
T. Bulut ◽  
M. Tahta ◽  
B. Dirim Mete ◽  
...  
Keyword(s):  
Magnetic Resonance ◽  
Case Series ◽  
Magnetic Resonance Images ◽  
Stage Ii ◽  
Pinch Strength ◽  
Case Series Study ◽  
The Mean ◽  
Series Study ◽  
Carpal Height

The purpose of this study was to report our experience of partial capitate shortening in seven patients with a median 38 months follow-up. Staging was made by the Lichtman classification system and stage II and III-A patients were included in the study. The mean age was 34 years (range 22–52). Patients were assessed for pain, range of motion, grip and pinch strength, and satisfaction was recorded using a scale between 0 and 4. All these parameters showed improvement after surgery. The Lichtman stage, lunate height index and carpal height index were determined radiographically. Magnetic resonance images of the wrist were studied for lunate revascularization at the final follow-up and occurred in all patients. According to our study, partial capitate shortening seems an effective treatment for Lichtman stage II and III-A patients. Level IV case series study.

Topical ganciclovir treatment post-Descemet’s stripping automated endothelial keratoplasty for patients with bullous keratopathy induced by cytomegalovirus

2018 ◽  
Vol 102 (9) ◽  
pp. 1293-1297 ◽  
Author(s):  
Koji Kitazawa ◽  
Passara Jongkhajornpong ◽  
Tsutomu Inatomi ◽  
Noriko Koizumi ◽  
Kanae Kayukawa ◽  
...  
Keyword(s):  
Case Series ◽  
Clinical History ◽  
Topical Administration ◽  
Disease Recurrence ◽  
Bullous Keratopathy ◽  
Endothelial Keratoplasty ◽  
Patient Demographics ◽  
Case Series Study ◽  
Registration Number ◽  
The Mean

Background/aimsTo investigate the efficacy of topical ganciclovir (GCV) for preventing disease recurrence and improving the surgical outcome post-Descemet’s stripping automated endothelial keratoplasty (DSAEK) in patients with cytomegalovirus (CMV) endotheliitis.MethodsThis prospective, non-comparative case series study involved six eyes of six patients with endothelial decompensation due to CMV endotheliitis who underwent DSAEK, followed by a continuous, four to six times daily, topical administration of 0.5% GCV. Patient demographics, clinical history, and preoperative and postoperative examination (including any recurrence of CMV endotheliitis post-DSAEK), best corrected visual acuity (BCVA), intraocular pressure (IOP), graft survival rate and endothelial cell density (ECD) were examined.ResultsNo recurrence of CMV endotheliitis was detected post-DSAEK. The mean follow-up period was 40 months (range, 12–60 months). The mean preoperative BCVA was 1.52±0.68 LogMAR (range, 0.52–2.40 LogMAR), yet it had significantly improved to 0.15±0.16 LogMAR (range: −0.08 to 0.30 LogMAR) by 1 year postoperative (P<0.01). In all patients, IOP was well controlled (10–20 mm Hg) postsurgery. The mean preoperative donor ECD was 2692±177 cells/mm2, and the mean postoperative ECD was 1974, 1771 and 1174 cells/mm2 for the ECD loss of 26%, 33% and 54% at 6, 12 and 36 months, respectively. No adverse effects were observed associated with the long-term topical administration of GCV.ConclusionThe continuous topical application of 0.5% GCV was found to be effective for preventing the recurrence of CMV endotheliitis, and it provided the optimal mid-term clinical outcomes post-DSAEK in patients with CMV endotheliitis.Trial registration numberUMIN000026746

scholarly journals Clinical profile and visual outcome following pars plana vitrectomy in acute post-operative endophthalmitis

1970 ◽  
Vol 3 (2) ◽  
pp. 102-108 ◽  
Author(s):  
R Thapa ◽  
G Paudyal
Keyword(s):  
Cataract Surgery ◽  
Pars Plana Vitrectomy ◽  
Case Series ◽  
Visual Outcome ◽  
Clinical Profile ◽  
Case Series Study ◽  
Study Results ◽  
Pars Plana ◽  
The Mean ◽  
Good Vision

Introduction: Endophthalmitis following cataract surgery is a rare but devastating ocular complication where delay in treatment not only results in vision loss but also in difficulty to save the eye ball. Objective: To explore the clinical profile and visual outcome following pars plana vitrectomy (PPV) in acute endophthalmitis after cataract surgery. Materials and methods: This is a retrospective interventional case series study conducted at Tilganga Institute of Ophthalmology (TIO), Nepal. All consecutive cases of acute endophthalmitis following cataract surgery treated with PPV from January 2005 to August 2010 were included in the study. Results: There were a total of 34 cases (34 eyes) treated with PPV. The age range was 8 - 93 years with mean age of 56.9 ± 19.5 years. The mean duration of presentation and duration following cataract surgery was 7.7 ± 8.1days and 13 ± 11.6 days respectively. Small incision cataract surgery was done in 75 % of cases followed by phacoemulsification (15.6 %). The mean duration of the last follow -up was 4.3 months. Vision was improved in two-thirds of cases (67.67 %) with a good vision of 6/18 or better in 17.6 %. Among the available vitreous samples of 22 cases, 36.36 % had an abnormality in Gram and Giemsa stains and culture was positive in 13.6 % of cases. Conclusion: Despite the late presentation, the majority of eyes were salvaged with improvement of vision in 67.67 %, with a good vision of 6/18 or better in 17.6 4 % of cases following PPV in acute post operative endophthalmitis. Key words: Endophthalmitis, vitrectomy, cataract surgery, visual outcome DOI: http://dx.doi.org/10.3126/nepjoph.v3i2.5260 Nepal J Ophthalmol 2011; 3(2): 102-108

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