Case Reports1. A Late Presentation of Loeys-Dietz Syndrome: Beware of TGFβ Receptor Mutations in Benign Joint Hypermobility

Background: Thoracic aortic aneurysms (TAA) and dissections are not uncommon causes of sudden death in young adults. Loeys-Dietz syndrome (LDS) is a rare, recently described, autosomal dominant, connective tissue disease characterized by aggressive arterial aneurysms, resulting from mutations in the transforming growth factor beta (TGFβ) receptor genes TGFBR1 and TGFBR2. Mean age at death is 26.1 years, most often due to aortic dissection. We report an unusually late presentation of LDS, diagnosed following elective surgery in a female with a long history of joint hypermobility. Methods: A 51-year-old Caucasian lady complained of chest pain and headache following a dural leak from spinal anaesthesia for an elective ankle arthroscopy. CT scan and echocardiography demonstrated a dilated aortic root and significant aortic regurgitation. MRA demonstrated aortic tortuosity, an infrarenal aortic aneurysm and aneurysms in the left renal and right internal mammary arteries. She underwent aortic root repair and aortic valve replacement. She had a background of long-standing joint pains secondary to hypermobility, easy bruising, unusual fracture susceptibility and mild bronchiectasis. She had one healthy child age 32, after which she suffered a uterine prolapse. Examination revealed mild Marfanoid features. Uvula, skin and ophthalmological examination was normal. Results: Fibrillin-1 testing for Marfan syndrome (MFS) was negative. Detection of a c.1270G > C (p.Gly424Arg) TGFBR2 mutation confirmed the diagnosis of LDS. Losartan was started for vascular protection. Conclusions: LDS is a severe inherited vasculopathy that usually presents in childhood. It is characterized by aortic root dilatation and ascending aneurysms. There is a higher risk of aortic dissection compared with MFS. Clinical features overlap with MFS and Ehlers Danlos syndrome Type IV, but differentiating dysmorphogenic features include ocular hypertelorism, bifid uvula and cleft palate. Echocardiography and MRA or CT scanning from head to pelvis is recommended to establish the extent of vascular involvement. Management involves early surgical intervention, including early valve-sparing aortic root replacement, genetic counselling and close monitoring in pregnancy. Despite being caused by loss of function mutations in either TGFβ receptor, paradoxical activation of TGFβ signalling is seen, suggesting that TGFβ antagonism may confer disease modifying effects similar to those observed in MFS. TGFβ antagonism can be achieved with angiotensin antagonists, such as Losartan, which is able to delay aortic aneurysm development in preclinical models and in patients with MFS. Our case emphasizes the importance of timely recognition of vasculopathy syndromes in patients with hypermobility and the need for early surgical intervention. It also highlights their heterogeneity and the potential for late presentation. Disclosures: The authors have declared no conflicts of interes

Presumed Vogt-Koyanagi-Harada (VKH) disease in Nepalese population: A rare entity

Vogt-Koyanagi-Harada (VKH) disease is a granulomatous inflammatory disorder affecting the eyes, auditory system, meninges, and skin. It typically affects those of more pigmented groups, such as Hispanics, Asians, Native Americans, Middle Easterners, and Asian Indians and is rare among Nepalese population. Hereby, we report a series of eight VKH cases with bilateral ocular involvement, of which six were females. The mean age of the patients was 38.13 ± 11.53 years. The acute uveitic stage was the commonest stage of presentation (4/8). Posterior segment involvement was in the form of disc edema (9/16), serous retinal detachment (5/16), and multifocal choroiditis (5/16). The extraocular manifestations were present in seven cases; neurological manifestations being the commonest

Visual problems among video display terminal (VDT) users in Nepal

Purpose: To evaluate visual problems, major symptoms, and their associations among VDT users in Nepal. Methods: Among 76 hospital attendees, assessment included visual acuity, retinoscopy, convergence, accommodation, fusional vergence and Schirmer's II. Subjects’ symptoms were recorded in the structured 5 point intensity scale questionnaire. Results: Mean age of subjects was 25.8 ± 5 years with 6.9 ± 2.6 hours/day of computer use. Ocular changes were reported in 92.1% of the total subjects. The common ocular change was accommodative infacility. The most common symptoms (p < 0.001) were tired eye and headache. Reduced tear secretion as indicated by Schirmer's test II was found to have a little role in manifesting the symptoms as indicated by regression coefficient. Conclusions: Accommodative infacility and tired eye were the most common abnormalities and symptom reported. Schirmer's test II was slightly correlated with some ocular, visual, and systemic symptoms

A Case of Orbital Myiasis in Recurrent Eyelid Basal Cell Carcinoma Invasive into the Orbit

Introduction. Orbital myiasis is the infestation of the orbital tissues by fly larvae or maggots. Compromise of periorbital tissues by malignant disease, surgery, ischemia, or infection may predispose the patient to orbital myiasis. Case Report. A 73-year-old male patient with neglected recurrent basal cell carcinoma of the eyelid invasive into the orbit presented with complaints of intense itching and crawling sensation with maggots wriggling and falling from the wound of left orbit. The patient improved following manual removal of the maggots along with oral Ivermectin treatment. Recurrence of the basal cell carcinoma was confirmed by punch biopsy from the wound and extended exenteration of the orbit followed by reconstructive surgery was done. Conclusion. Orbital myiasis is a rare and preventable ocular morbidity that can complicate the malignancies resulting in widespread tissue destruction. The broad spectrum antiparasitic agent, Ivermectin, can be used as noninvasive means to treat orbital myiasis. In massive orbital myiasis and those associated with malignancies, exenteration of the orbit must be seriously considered

Pattern of presumed tuberculous uveitis in a tertiary eye care centre of Nepal

Purpose: To evaluate the pattern of presumed tuberculous uveitis and its various clinical presentation. Methods: This hospital based, cross-sectional descriptive study was conducted in B.P. Koirala Lions Centre for Ophthalmic Studies, Kathmandu, Nepal from January 2013 to June 2014. All uveitis patients presenting to uveitis clinic were included in the study. A complete ophthalmic examination, systemic evaluation and tailored investigations were done for each individual patient and the findings were recorded. Results: Out of 1140 uveitis patients evaluated, 12 patients (1.05%) had presumed tuberculous uveitis. Panuveitis (five patients, 41.7%) was the most common form of uveitis, followed by posterior (four patients, 33.3%) and anterior uveitis (three patients, 25%). All patients showed signs of clinical resolution after the institution of anti-tuberculous therapy along with drugs for the control of intraocular inflammation. Conclusion: Panuveitis and posterior uveitis were the common forms of clinical presentation of presumed tuberculous uveitis in this study. Treatment with anti-tuberculous therapy along with drugs to control intraocular inflammation resolves presumed tuberculous uveitis

Visual function in patients on ethambutol therapy for tuberculosis

Purpose: Aim of the study was to evaluate the effects of ethambutol therapy in visual functions. Methods: Prospective evaluation of 88 eyes of 44 patients on ethambutol therapy under Directly Observed Treatment Short-course (category I) for primary tuberculosis was done before start of ethambutol therapy and after 2 months of starting the therapy. Parameters evaluated were visual acuity with Bailey Lovie Log-MAR chart, contrast sensitivity with Pelli-Robson contrast sensitivity chart, color vision with Farnsworth D15 test, visual fields with Octopus automated perimetry, and multifocal electroretinography (ERG) with Roland-RETI scan along with anterior and posterior segments evaluation. Results: No visual functional defect was noted at baseline. On follow-up, color vision, visual field parameters, and anterior and posterior segment findings were not affected in any patients. Mean visual acuity before starting therapy was 0.00±0.08 Log-MAR and after therapy was 0.08±0.18 Log-MAR. Change in visual acuity was statistically significant (p=0.004). Difference between contrast sensitivity before and after therapy was statistically highly significant both monocularly and binocularly (p2 and μV) of ERG waves were significantly reduced and their P1 latencies were significantly increased in all the rings after ethambutol therapy (pConclusions: Visual acuity, contrast sensitivity, and multifocal ERG are sensitive tests to detect ethambutol toxicity in subclinical stages and hence very useful tools for monitoring patients under ethambutol therapy for ocular toxicity.</p

Serological and Entomological Study of Dengue in Dang and Chitwan Districts of Nepal.

A descriptive cross-sectional study was carried out among 264 suspected dengue patients in two districts (Dang and Chitwan) of Nepal from June 2013 to November 2013. The anti-dengue IgM positivity was found to be (51/264)19.31% by capture ELISA, of which 21 (41.2%) were male and 30 (58.8%) were female. Symptoms of seropositive cases were fever, anorexia, nausea, headache, retro-orbital pain, skin rashes, and myalgia. Hematological features like thrombocytopenia and leucopenia were found to be significantly associated with the dengue fever (DF). Discarded tires were found as the commonest breeding habitats for the dengue vectors. Higher sero-positivity was recorded from the area having higher Breteau index (BI). The pH, chloride ion concentration and the salinity of the water from breeding habitats were found to be ranging from 6.9±0.82 to 8, 103.33±17.52 mg/L to 140.65 mg/L, and 0.19±0.032 ppt to 0.25 ppt respectively. This study may be helpful for the health authorities and public health workers for early diagnosis of DF and for the improved preventive measures to be adopted in the epidemic and possible epidemic areas

Dietary Risk Factors Associated with Development of Gastric Cancer in Nepal: A Hospital-Based Case-Control Study

Objectives. Gastric cancer (GC) is one of the most prevalent neoplasms and a leading cause of mortality globally. To our knowledge, its relationship with dietary factors is not adequately studied and understood in the Nepalese context. This study is aimed at exploring the relationship between the possible dietary risk factors responsible for gastric cancer in Nepal. Methods. A hospital-based matched case-control study was conducted in two specialized cancer hospitals in Nepal. A total of 237 participants (79 cases and 158 controls) were included in the study. Patients diagnosed within one year (incidence case) with histologically confirmed gastric cancer were taken as cases, and healthy visitors of gastric and nongastric cancer patients without past and present history or not a suspected information of gastric cancer were included as controls. A face-to-face interview was conducted using a semi-structured food frequency questionnaire. Backward stepwise conditional logistic regression was used to estimate the magnitude of the association between the independent variables and gastric cancer. Results were presented as the crude odds ratio (COR) and adjusted odds ratio (AOR) with 95% confidence intervals (CI). A P value < 0.05 was considered statistically significant. Results. In the adjusted multivariable conditional logistic regression model, an increased risk of gastric cancer was more likely to have higher odds among those respondents who had a high consumption of processed meat (AOR=3.99, 95% CI: 0.90-17.66), preferences of a high amount of fats/oil (AOR=4.64, 95% CI: 1.56-13.72), and preferences of high amounts of salts (AOR=4.18, 95% CI: 1.30-13.44). Conversely, those respondents who consumed higher amounts of fruits (AOR=0.21, 95% CI: 0.07-0.65) were seen to have lower odds of gastric cancer. Conclusions. Our study found an increased risk of gastric cancer with frequent consumption of red meat, processed meat, high preferences of salt, fats/oil, and condiments. Regular consumption of fruits had a protective effect against gastric cancer. Providing nutrition education, public awareness, and lifestyle modification are primary steps to promote the avoidance of risk factors and change unhealthy dietary habits to prevent gastric cancer in Nepal

Hematological features of seropositive cases.

<p>Hematological features of seropositive cases.</p