NOD2 Genes Mutation in a Blau Syndrome Accompany with Congenital Hyperuricemia: A Case Report

Rationale: Blau syndrome (BS) is a chronic auto-inflammatory granulomatous disorder associated with the nucleotide-binding oligomerization domain-containing 2 (NOD2) gene mutations. Gene mutation is one cause of congenital hyperuricemia, However, the relationship between NOD2 and hyperuricemia was unknown. Patient concerns: A 3.5-year-old girl was admitted to hospital because of pain in the left calf and red eyes, otherwise, she suffered from skin rash, and skin cysts in the wrist and ankle joints before.Diagnoses: The girl was diagnosed with sporadic BS (SBS) accompanied with congenital hyperuricemia according to her clinical presentation and gene mutation.Interventions: The patient received prednisolone combined with adalimumab and methotrexate for controlling SBS. Oral febuxostat to alleviate uric acid levels. Outcomes: Her serum uric acid decreased to normal levels after 2 weeks with oral febuxostat tablet. Four months following the treatment, the number of cysts was decreased and ocular damage was not progressed. Lessions: Blau syndrome is a relatively new entity that clinical spectrum continues to expand. This patient provides some information, which would be assist the diagnosis.

ALLERGIC RHINITIS AND IMPORTANCE OF FEXOFENADINE HCL SUSTAINED RELEASE MICROSPHERE AS ITS TREATMENT APPROACH

The current treatment approaches for allergic rhinitis are practiced over decades, but the patient quality of life has not yet changed so much. The reasons are research gaps in pathophysiology of the disease, proper management of the disease. Fexofenadine HCl is a second-generation antihistamine drug which has a half-life of about 14.4 h. It is useful in the management of common symptoms like sneezing, itchy throat, and red eyes in individuals suffering from allergic rhinitis. Fexofenadine immediate release or sustained release formulations are available in the market as suspension, tablet and capsule. In this research paper, we have discussed the symptoms associated with allergic rhinitis and treatment approaches. Fexofenadine HCl is being used for the treatment of this disease. But as it has a long half-life, we have discussed the importance of the introduction of sustained-release microsphere formulation of Fexofenadine HCl in the market.

A fantastic new species of secretive forest frog discovered from forest fragments near Andasibe, Madagascar

We describe a fantastic new species of forest frog (Mantellidae: Gephyromantis: subgenus: Laurentomantis) from moderately high elevations in the vicinity of Andasibe, Madagascar. This region has been surveyed extensively and has a remarkably high anuran diversity with many undocumented species still being discovered. Surprisingly, by exploring areas around Andasibe that lacked biodiversity surveys, we discovered a spectacular and clearly morphologically distinct species, previously unknown to science, Gephyromantis marokorokosp. nov., documented for the first time in 2015. The new species is well characterised by a very rugose and granular dorsum, dark brown skin with bright red mottling, sparse light orange to white spots on the ventre, vibrant red eyes and femoral glands present only in males that consist of eight medium-sized granules. Bioacoustically, the new species has a quiet advertisement call that differs from related species by having a moderate call duration, 2–4 strongly pulsed notes and a slow note repetition rate. Furthermore, it has substantial differentiation in mitochondrial DNA, with pairwise distances of 7–9% to all other related species in sequences of the mitochondrial 16S rRNA marker. Additional evidence is given through a combined four mitochondrial markers and four nuclear exons concatenated species tree, strongly supporting G. striatus as the sister species of the new species in both analyses. The discovery of this new species highlights the need for continued inventory work in high elevation rainforests of Madagascar, even in relatively well-studied regions.

Clinicopathologic Presentation and Management of Malignant Orbito-ocular Tumors at a Tertiary Care Hospital in Nepal

Introduction: This study was conducted to evaluate the clinical presentations and management of various Orbito-ocular malignancies in Nepal. Materials and methods: This is a prospective study of ocular malignant cases conducted at a tertiary care eye hospital in Kathmandu, Nepal. One hundred and seventeen newly diagnosed eyes with ocular malignancy of 106 patients presenting to the clinic in a year from September 2018 to August 2019 were included for analysis. Patients’ demography, clinical features, various types of malignancies seen in eyes and their management were evaluated. Results: The mean age of patients was 30.35 years with a range from 1 month to 84 years and standard deviation of 26.63. 56% of the total were male. Red eyes and visible mass were the most common symptoms in 23% with intraocular contents in 48% being the most common site involved. Different types of ocular malignancies were detected, among which retinoblastoma was the most common in 38% of patients. Diagnosis in most patients was clinical and/or radiological; incision biopsy was required in 1.7% patients only. Surgical excision of the tumor was the most common treatment done in 29% followed by enucleation in 27% of eyes. Bilateral involvement of the eyes was seen in 10% of the patients. Conclusion: Malignant orbito-ocular tumors can be seen in any age group. Retinoblastoma is the commonest malignancy seen. With the help of imaging, diagnosis is near accurate; hence biopsy is not required in most cases before commencing treatment.

Headache, Uveitis, and Leptomeningeal Enhancement

A 35-year-old man sought care for a severe, acute-onset, pounding, bifrontal headache, photopsias, and nausea for 1 day. Initially, bilateral red eyes developed, and within 24 hours he had central blurred vision problems in the left eye. He reported that objects had a yellow tint with the left eye and looked “wavy” supranasally. An emergent evaluation documented bilateral red eyes, and an initial diagnosis of bilateral panuveitis was given. By 48 hours after symptom onset, he started vomiting. He also was feeling feverish and off-balance. He reported no tinnitus or hearing loss, any change in color of his eyelashes or eyebrows, alopecia, poliosis, or cognitive difficulties. An initial work-up for infectious processes was negative. Given the patient’s ethnic background, including Chinese, Japanese, and Filipino origin, and typical findings of uveomeningitis, he was diagnosed with probable Vogt-Koyanagi-Harada syndrome. There is no specific diagnostic test for this entity, and the diagnosis remains reliant on a combined interpretation of clinical and ancillary testing. The patient was kept on oral prednisone daily, and azathioprine was initiated, as well as prophylaxis against Pneumocystis carinii pneumonia and gastrointestinal tract hemorrhage. During the tapering phase of prednisone, liver function test abnormalities were found, so azathioprine was discontinued. At 1-year follow-up, he had some mild skin flaking and weight gain from the corticosteroid therapy but no other symptoms, despite having discontinued azathioprine for 3 months. He continued to taper off prednisone. He had development of bilateral hip pain; imaging showed bilateral aseptic hip necrosis. A decision was made to initiate tumor necrosis factor (TNF)-α‎ inhibitors. He lost all the weight gained and recovered from the aseptic necrosis of the hip to be able to continue running. The final diagnosis was recurrent Vogt-Koyanagi-Harada syndrome. Vogt-Koyanagi-Harada syndrome is an idiopathic inflammatory disease with panuveitis and neurologic involvement in the form of aseptic meningitis and/or hearing loss. Although the full spectrum of the disorder may involve many skin changes and additional findings, most patients have incomplete disease because they are urgently treated with corticosteroids and the disorder is steroid responsive.

Digital SARS-CoV-2 detection among hospital employees: A Participatory Surveillance study. (Preprint)

BACKGROUND The implementation of novel techniques represents an additional opportunity for the rapid analysis acting as a complement to the traditional disease surveillance systems. OBJECTIVE The objective of this work is to describe a web-based participatory surveillance strategy among healthcare workers (HCW) in two Swiss hospitals during the first wave of COVID-19. METHODS A prospective cohort of HCW was initiated in March 2020 at the Cantonal Hospital of St. Gallen and the Eastern Switzerland Children’s Hospital. For data analysis, we used a combination of the following techniques: loess regression, spearman correlation, anomaly detection and random forest. RESULTS From March 23rd to August 23rd 2020, 127,684 SMS were sent generating 90,414 valid reports among 1,004 participants, achieving a weekly average of 4.5 reports per user (SD 1.9). The symptom showing the strongest correlation with a positive PCR result was loss of taste. Symptoms like red eyes or runny nose were negatively associated with a positive test. The area under the ROC curve showed favorable performance of the classification tree, with an accuracy of 88% for the training and 89% for the test data. Nevertheless, while the prediction matrix showed good specificity (80.0%), sensitivity was low at 10.6%. Loss of taste was the symptom which paralleled best with COVID-19 activity on the population level. On the resident level, using machine-learning based random forest classification, reporting of loss of taste and limb/muscle pain, as well as absence of runny nose and red eyes were the best predictors of COVID-19. CONCLUSIONS Nevertheless, we deem the presented surveillance tool highly useful in monitoring and predicting COVID-19 activity among our HCW.

A new species of Ahaetulla Link, 1807 (Squamata: Colubridae) from the Mekong Delta, Vietnam

A new vine snake, genus Ahaetulla, from Soc Trang Province, southern Vietnam is described based on morphological data and nucleotide sequences from COI and Cytb. Ahaetulla rufusoculara sp. nov. is diagnosed by the following morphological characters: bright red eyes; snout without dermal appendage; internasal separated from supralabial by loreal; body scale rows 15-15-13; ventrals 186–190 in males and 182–185 in females; subcaudals 143–153 in males and 128 or 129 in females; 8 (rarely 9) supralabials, fourth and fifth or fourth to sixth entering orbit; 12–14 maxillary teeth; hemipenis short, reaching 6th or 7th SC; cloacal plate divided; dorsum bright green; and yellow or white stripe along the lower flank. The new species differs from its congeners by an uncorrected p-distance in COI and Cytb sequences of at least 7.7% and 7.5%, respectively.