scholarly journals Xeroderma Pigmentosum: Ocular Findings in an Isolated Brazilian Group with an Identified Genetic Cluster

2019 ◽  
Vol 2019 ◽  
pp. 1-8 ◽  
Author(s):  
Maria Claudia Schelini ◽  
Luis Fernando O. B. Chaves ◽  
Marcia C. Toledo ◽  
Francisco W. Rodrigues ◽  
Tauan de Oliveira ◽  
...  

Purpose. Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder characterized by increased susceptibility to UV radiation- (UVR-) induced skin pigmentation, skin cancers, ocular surface disease, and, in some patients, sunburn and neurological degeneration. Eight different genes are affected, and the prevalence of the disease differs across the world. The present study describes the main ophthalmologic features and symptoms in patients with XP in this case series. Methods. Patients were examined consecutively at the University Hospital of the Federal University of Goias between January 2016 and June 2018. All patients underwent ophthalmologic examination and were asked about their ophthalmological history and the presence of ocular symptoms. Results. Twenty-one patients with genetic confirmation were evaluated. The genetic variants XPV and XPC were detected in the patients. The most prevalent findings include eyelid changes, observed in 80.9% of the patients, and ocular surface changes as punctate keratopathy, occurring in 16 patients (76.2%), corneal neovascularization, and corneal opacities. Six patients (28.5%) presented corneoconjunctival tumor. More than half of patients had previous history of treatment of ocular neoplasia. Ocular burning was the most reported symptom. Conclusions. The ocular characteristics identified in this study corroborate the existing literature, mainly related to the surface. Concerning the XP variant and the gravity of ocular signs, XPC has earlier and more severe symptoms than XPV. Due to their relative rarity, publications of XP cases are important to understand the possible damages caused by the disease in the eyes and surrounding area.

2020 ◽  
pp. 004947552098130
Author(s):  
Fabián R Carreño-Almánzar ◽  
Adán Coronado-Galán ◽  
Sonia A Cala-Gómez ◽  
Agustín Vega-Vera

Imported malaria has increased in Colombia since 2015 and has been attributed to migrants coming from Venezuela. We present a series of malaria cases, nested in a retrospective cross-sectional study between 2017 and 2018, aimed at calculating the prevalence of medical diseases among immigrants in a University Hospital in Colombia. Among 154 immigrants admitted for medical causes between 2017 and 2018, 8 were diagnosed with malaria, all due to Plasmodium vivax. Of these, seven had uncomplicated malaria, five had a previous history of malaria, one was critically ill, but none died. We highlight that, similar to other case series of imported malaria, Latin American migrants were young, with similar clinical profiles, having a low proportion of severe cases, and P. vivax was the most frequent cause.


2022 ◽  
Vol 9 ◽  
Author(s):  
Carla Gramaglia ◽  
Maria Martelli ◽  
Lorenza Scotti ◽  
Lucia Bestagini ◽  
Eleonora Gambaro ◽  
...  

Introduction: As suicide rates increase with age, it is mandatory to carefully assess old age suicidal behaviors. Our aim was to describe the main socio-demographic and clinical features of a sample of suicide attempters aged 65 years and older, and to assess differences within the sample (men vs. women; patients with vs. without a previous history of suicide attempt; patients with vs. without a previous psychiatric history).Methods: Retrospective study conducted at the Maggiore della Carità University Hospital, Novara, Italy.Results: A higher percentage of female patients in our sample were treated by or referred to mental health services, while a greater percentage of male patients required a prolonged clinical observation in the Emergency Room (ER) or in non-psychiatric wards before psychiatric admission. The percentage of patients without previous psychiatric history taking anxiolytic and sedative medications was 25%.Conclusion: It is likely that different clusters and types of suicide attempters exist. Women in our sample appeared more proactive in asking for help, and more likely to be already treated by or referred to a psychiatric service, suggesting the need to facilitate the access to psychiatric services for the male population aged 65 years and older, or to offer support and care for the non-psychiatric reasons (comorbidities, pain, and loss of autonomy) possibly underlying suicidal behavior in this specific group. The use of medications deserves more attention considering the possible critical diagnostic issues in this age group.


2017 ◽  
Vol 6 (1) ◽  
pp. 207-213
Author(s):  
Majid Moshirfar ◽  
Tyler S. Quist ◽  
David F. Skanchy ◽  
Steven H. Linn ◽  
Jordan Desautels ◽  
...  

Author(s):  
Bushra . ◽  
Ambreen Ghori ◽  
Azra Ahmed ◽  
Najma Dalwani ◽  
Mushtaque Ali Shah ◽  
...  

Background: Pregnancy is a very crucial time in a woman’s life. In this period of time, not only multiple physiological alterations effect the usual health status but also makes women more vulnerable to contract infection and face negative sequalae. Hepatitis C, a blood borne viral infection serve the similar fate when encountered by pregnant ladies. This study is based on exploring the prevalence of the Hepatitis C virus seropositivity among pregnant population. Moreover, we also evaluated the major risk factors leading to the infection in these mothers. Besides this, infected mothers were studied for their pregnancy outcomes.Methods: In this study 114 pregnant females were observed for this cross-sectional study. It was conducted in Gynecology Unit- 1, Liaquat University Hospital Hyderabad, for the period of January 2017 to July 2017. Chi square test was applied for statistical analysis on SPSS version 16. The criteria for enrollment in the study was set to be a pregnant lady belonging to age group 20-35 years; having singleton pregnancy; was a booked case at the hospital with compliant to antenatal follow ups; admitted to the labor room for delivery. All the non-pregnant ladies, whom had co morbid conditions such as hypertension or diabetes or had infected with hepatitis B or D were excluded from the study. Furthermore, pregnant ladies with multiple gestion or those who were either diagnosed of hepatitis C prior to conceive or had a previous history of hepatitis C were also excluded.Results: Present study revealed that out of 114, 10(8.8%) pregnant ladies were found seropositive for Hepatitis C virus. Prior history for transfusion of blood was the Foremost risk factor discovered, with 60.5% women reported this. History of surgery was the 2nd commonest factor and 43.9% had this in their medical records. On the other hand, only 8.8% women gave the history for previous evacuation. While observing pregnancy outcomes, we found 48.2% neonates had low birth weight, 41.2% were born preterm and 21.1% had low APGAR score.Conclusions: In a nutshell hepatitis c is prevalent in the pregnant population of this region and showing its effects in the form of compromised pregnancies. History of blood transfusion and previous surgery were found to be chief risk factors in the study.


2020 ◽  
pp. bjophthalmol-2020-316125
Author(s):  
John Vekinis ◽  
Ana M Susana Morley

Background/AimsTo describe the results of all ocular surface biopsies performed on patients with xeroderma pigmentosum (XP) under the care of the UK Nationally Commissioned XP Service as well as the treatment of any subsequent ocular surface conditions diagnosed.MethodsRetrospective analysis of medical records. All patients with XP seen by the service from 2010 to 2019 were included and those with ocular surface biopsies were identified. Data was collected on demographics, complementation subgroup (A–G and V), biopsy details, histopathological analysis and subsequent management.ResultsOf 108 patients seen in our service, 17 underwent at least one ocular surface biopsy. 45 biopsy samples were available from 13 patients of which 65% were performed on patients from complementation subgroup C (XP-C). Biopsies were categorised as either non-mapping (clinically abnormal ocular surface tissue) or mapping (multiple sites including clinically normal tissue). 67 percent of non-mapping biopsies had a mass as their indication and 46% showed ocular surface squamous neoplasia. General non-dysplastic damage was seen in 67% of non-mapping biopsies and melanocytic changes were seen in 25% of non-mapping and 81% of mapping biopsies. 47 percent of biopsy outcomes required no additional treatment but, of those that did, 50% received mitomycin C.ConclusionsThis is the largest reported series of ocular surface biopsies in patients with XP. It identifies a background of ocular surface melanocytic, degenerative and inflammatory changes, with patients with XP-C showing the most severe effects. We highlight challenges faced in interpreting their histopathology and in planning subsequent treatments.


2018 ◽  
Vol 2018 ◽  
pp. 1-9 ◽  
Author(s):  
Leila Yazdanpanah ◽  
Hajieh Shahbazian ◽  
Iraj Nazari ◽  
Hamid Reza Arti ◽  
Fatemeh Ahmadi ◽  
...  

Aim/Introduction. This study was carried out to assess the incidence and risk factors of diabetic foot ulcer (DFU). Materials and Methods. In this prospective cohort study in a university hospital, all the participants were examined and followed up for new DFU as final outcome for two years. To analyze the data, the variables were first evaluated with a univariate analysis. Then variables with P value < 0.2 were tested with a multivariate analysis, using backward-elimination multiple logistic regression. Results. Among 605 patients, 39 cases had DFU, so we followed up the remaining 566 patients without any present or history of DFU. A two-year cumulative incidence of diabetic foot ulcer was 5.62% (95% CI 3.89–8.02). After analysis, previous history of DFU or amputation [OR = 9.65, 95% CI (2.13–43.78), P value = 0.003], insulin usage [OR = 5.78, 95% CI (2.37–14.07), P value < 0.01], gender [OR = 3.23, 95% CI (1.33–7.83), P value = 0.01], distal neuropathy [OR = 3.37, 95% CI (1.40–8.09), P value = 0.007], and foot deformity [OR = 3.02, 95% CI (1.10–8.29), P value = 0.032] had a statistically significant relationship with DFU incidence. Conclusion. Our data showed that the average annual DFU incidence is about 2.8%. Independent risk factors of DFU development were previous history of DFU or amputation, insulin consumption, gender, distal neuropathy, and foot deformity. These findings provide support for a multifactorial etiology for DFU.


2021 ◽  
Vol 8 (11) ◽  
pp. 3421
Author(s):  
Nagamallesh C. S. ◽  
Nandini S. Tanwar ◽  
F. Sadiq Nawaz ◽  
Padmanath Bhat

Incisional hernia is the second most common type of hernia. Incisional hernia occurs in 10-20% of patients who were subjected to abdominal surgery in India. Here we are presenting a case series of 20 patients with incisional hernia and obesity. Body mass index (BMI) ranges from 28 to 35 in all cases. Females outnumbered the male in the ratio of 4:1 and 40% of cases had a previous history of caesarean section. All cases were operated by combining open polypropylene meshplasty and abdominoplasty techniques and follow up consultations were done for 1 year. 10% of cases had post-op wound infections, who were known to be diabetic. They were managed with appropriate antibiotics and maintained strict glycemic control. 90% of patients were satisfied from the procedure performed which improved their quality of life, significant cosmetic outcome and no recurrence. 10% of cases had recurrence after heavy weight lifting following surgery (BMI was 36). By incorporating the above mentioned techniques in hernia repair, recurrence rate and complications were reduced, quality of life and aesthetic outcome are enhanced.


2020 ◽  
Author(s):  
Warinyupa Pinitpuwadol ◽  
Nattaporn Tesavibul ◽  
Sutasinee Boonsophon ◽  
Darin Sakiyalak ◽  
Sucheera Sarunket ◽  
...  

Abstract Background: To report three cases of nontuberculous mycobacterial (NTM) endophthalmitis following multiple ocular surgeries and to review previous literature in order to study the clinical profile, treatment modalities, and visual outcomes among patients with NTM endophthalmitis.Methods: Clinical manifestation and management of patients with NTM endophthalmitis in the Department of Ophthalmology, Faculty of Medicine, Siriraj hospital, Mahidol University, Bangkok, Thailand were described. In addition, a review of previously reported cases and case series from MEDLINE, EMBASE, and CENTRAL was performed. The clinical information and type of NTM from the previous studies and our cases were summarized.Results: We reported three cases of NTM endophthalmitis caused by M. haemophilum, M. fortuitum and M. abscessus and a summarized review of 112 additional cases previously published. Of 115 patients, there were 101 exogenous endophthalmitis (87.8%) and 14 endogenous endophthalmitis (12.2%). The patients’ age ranged from 13 to 89 years with mean of 60.5±17.7 years with no gender predominance. Exogenous endophthalmitis occurred in both healthy and immunocompromised hosts, mainly caused by cataract surgery (67.3%). In contrast, almost all endogenous endophthalmitis patients were immunocompromised. Among all patients, previous history of tuberculosis infection was identified in 4 cases (3.5%). Rapid growing NTMs were responsible for exogenous endophthalmitis, while endogenous endophthalmitis were commonly caused by slow growers. Treatment regimens consisted of macrolides, fluoroquinolones or aminoglycosides, which were continued for up to 12 months. Initial and final vision were generally worse than 6/60.Conclusions: NTM endophthalmitis is a serious intraocular infection that leads to irreversible loss of vision. The presentation can mimic a chronic recurrent or persistent intraocular inflammation. History of multiple intraocular surgeries or immune-deficiency in patient with chronic panuveitis should raise the practioner’s suspicion of NTM endophthalmitis. Appropriate diagnosis and treatment are important to optimize visual outcome.


2020 ◽  
Author(s):  
Warinyupa Pinitpuwadol ◽  
Nattaporn Tesavibul ◽  
Sutasinee Boonsophon ◽  
Darin Sakiyalak ◽  
Sucheera Sarunket ◽  
...  

Abstract Background: To report three cases of nontuberculous mycobacterial (NTM) endophthalmitis following multiple ocular surgeries and to review previous literature in order to study the clinical profile, treatment modalities, and visual outcomes among patients with NTM endophthalmitis.Methods: Clinical manifestation and management of patients with NTM endophthalmitis in the Department of Ophthalmology, Faculty of Medicine, Siriraj hospital, Mahidol University, Bangkok, Thailand were described. In addition, a review of previously reported cases and case series from MEDLINE, EMBASE, and CENTRAL was performed. The clinical information and type of NTM from the previous studies and our cases were summarized.Results: We reported three cases of NTM endophthalmitis caused by M. haemophilum, M. fortuitum and M. abscessus and a summarized review of 112 additional cases previously published. Of 115 patients, there were 101 exogenous endophthalmitis (87.8%) and 14 endogenous endophthalmitis (12.2%). The patients’ age ranged from 13 to 89 years with mean of 60.5±17.7 years with no gender predominance. Exogenous endophthalmitis occurred in both healthy and immunocompromised hosts, mainly caused by cataract surgery (67.3%). In contrast, almost all endogenous endophthalmitis patients were immunocompromised. Among all patients, previous history of tuberculosis infection was identified in 4 cases (3.5%). Rapid growing NTMs were responsible for exogenous endophthalmitis, while endogenous endophthalmitis were commonly caused by slow growers. Treatment regimens consisted of macrolides, fluoroquinolones or aminoglycosides, which were continued for up to 12 months. Initial and final vision were generally worse than 6/60.Conclusions: NTM endophthalmitis is a serious intraocular infection that leads to irreversible loss of vision. The presentation can mimic a chronic recurrent or persistent intraocular inflammation. History of multiple intraocular surgeries or immune-deficiency in patient with chronic panuveitis should raise the practioner’s suspicion of NTM endophthalmitis. Appropriate diagnosis and treatment are important to optimize visual outcome.


2020 ◽  
Author(s):  
Warinyupa Pinitpuwadol ◽  
Nattaporn Tesavibul ◽  
Sutasinee Boonsophon ◽  
Darin Sakiyalak ◽  
Sucheera Sarunket ◽  
...  

Abstract Background: To report three cases of nontuberculous mycobacterial (NTM) endophthalmitis following multiple ocular surgeries and to review previous literature in order to study the clinical profile, treatment modalities, and visual outcomes among patients with NTM endophthalmitis.Methods: Clinical manifestation and management of patients with NTM endophthalmitis in the Department of Ophthalmology, Faculty of Medicine, Siriraj hospital, Mahidol University, Bangkok, Thailand were described. In addition, a review of previously reported cases and case series from MEDLINE was performed. The clinical information and type of NTM from the previous studies and our cases were summarized.Results: We reported three cases of NTM endophthalmitis caused by M. haemophilum, M. fortuitum and M. abscessus and a summarized review of 95 additional cases previously published. Of 98 patients, there were 85 exogenous endophthalmitis (86.7%) and 13 endogenous endophthalmitis (13.3%). The patients’ age ranged from 13 to 89 years with mean of 61.1±18.7 years with no gender predominance. Exogenous endophthalmitis occurred in both healthy and immunocompromised hosts, mainly caused by cataract surgery (62.4%). In contrast, almost all endogenous endophthalmitis patients were immunocompromised. Among all patients, previous history of tuberculosis infection was identified in 4 cases (4.1%). Rapid growing NTMs were responsible for exogenous endophthalmitis, while endogenous endophthalmitis were commonly caused by slow growers. Treatment regimens consisted of macrolides, fluoroquinolones or aminoglycosides, which were continued for up to 12 months. Initial and final vision were generally worse than 6/60.Conclusions: NTM endophthalmitis is a serious intraocular infection that leads to irreversible loss of vision. The presentation can mimic a chronic recurrent or persistent intraocular inflammation. History of multiple intraocular surgeries or immune-deficiency in patient with chronic panuveitis should raise the practioner’s suspicion of NTM endophthalmitis. Appropriate diagnosis and treatment are important to optimize visual outcome.


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