Alstrom syndrome with classical findings: a rare case report of monogenic ciliopathy co-occurrence in twins.

Introduction and importance: Alstrom syndrome is one of the rarest monogenic ciliopathy belonging to autosomal recessive disorder. The pathophysiology of Alstrom syndrome is not well understood but based upon the available medical literature its mechanism can be linked with recessive mutation in Alstrom syndrome 1(ALSM1) gene resulting in various multiple organ involvement and poor prognosis. Moreover the co-occurrence of such syndrome simultaneously in twins in same period of time is considered rare. Case presentation: Monochorionic diamniotic twins male born to healthy parents with significant antenatal and natal history along with decreased vision in both eyes in both twins since neonatal period. Throughout the childhood the disease progressed without any confirmatory diagnosis during which the twins underwent simultaneous multiple systemic involvement such as legal blindness in both twins at the age of 11 years, insulin resistance and features of diabetes mellitus, sensorineural hearing loss, subclinical hypothyroidism and various deranged metabolic panels. Certain diagnosis of Alstrom syndrome was made at the age of 16 years in both twins after whole-exome sequencing. Clinical discussion: Based on genetic profile alstrom syndrome is a unique diagnosis. Along with its multi-organ involvement features, its progression and prognosis should also be looked upon while diagnosis and management in such syndromic patients. The diagnostic delay in such cases is also a matter of concern which can result in further delay in halting adverse effects of the disease itself. The multidisciplinary approach with involvement of endocrionologist, ophthalmologist and audiologist can bring upon improvement in quality of life of the patients. Conclusion: With the prevalence of 1 in million cases Alstrom Hallgren syndrome is one of the rare genetic disorder with poor prognosis. In our case we present classical findings in twins who were diagnosed as Alstrom syndrome concurrently and further diseases progressed simultaneously.

Ocular Trauma among Patients Visiting the Outpatient Department of Ophthalmology in a Tertiary Care Centre.

Introduction: Ocular trauma is an important cause of blindness and ocular morbidity worldwide. Knowledge of the cause of eye injuries can guide preventive strategies and optimize management capacity. The aim of the study was to find out the prevalence of ocular trauma among patients visiting the outpatient Department of Ophthalmology in a tertiary care centre. Methods: A descriptive cross-sectional study was conducted among patients with ocular trauma from 10 January 2023 to 5 July 2023 after obtaining ethical approval from the Institutional Review Committee. A convenience sampling method was used. The point estimate was calculated at a 95% Confidence Interval. Results: Among 4,959 patients, 107 (2.16%) (1.76-2.56, 95% Confidence Interval) had ocular trauma. Among them, 24 (22.43%) had occular trauma due to fall injuries. Ocular trauma was observed in 82 (76.64%) males and the common agent was blunt objects seen in 56 (52.34%). Conclusions: The prevalence of ocular trauma among patients was lower than in other studies done in similar settings. Keywords: blunt injuries; injury; ophthalmology; prevalence.

Impact of Rag1 aphid resistant soybeans on Binodoxys communis (Hymenoptera: Braconidae), a parasitoid of soybean aphid (Hemiptera: Aphididae).

Multiple strategies are being developed for pest management of the soybean aphid, Aphis glycines Matsumura; however, there has been little published research thus far to determine how such strategies may influence each other, thereby complicating their potential effectiveness. A susceptible soybean (Glycine max L.) variety without the Rag1 gene and a near isogenic resistant soybean variety with the Rag1 gene were evaluated in the laboratory for their effects on the fitness of the soybean aphid parasitoid, Binodoxys communis (Gahan). The presence or absence of the Rag1 gene was verified by quantifying soybean aphid growth. To test for fitness effects, parasitoids were allowed to attack soybean aphids on either a susceptible or resistant plant for 24 h and then aphids were kept on the same plant throughout parasitoid development. Parasitoid fitness was measured by mummy and adult parasitoid production, adult parasitoid emergence, development time, and adult size. Parasitoids that attacked soybean aphids on susceptible plants produced more mummies, more adult parasitoids, and had a higher emergence rate compared with those on resistant plants. Adult parasitoids that emerged from resistant plants took 1 d longer and were smaller compared with those from susceptible plants. This study suggests that biological control by B. communis may be compromised when host plant resistance is widely used for pest management of soybean aphids.