Acute Transverse Myelitis in a Patient With Type 2 Loeys-Dietz Syndrome: A Report of a Rare Case From India.

Loeys-Dietz syndrome (LDS) is a very rare connective tissue disorder with autosomal dominant inheritance, characterized by the involvement of the cardiovascular, musculoskeletal, and cutaneous systems, along with dysmorphic facial features. Currently, there are limited data regarding this disease. This case presents a clinical observation of a 17-year-old boy with acute onset of sensorimotor paraparesis and genetically confirmed LDS. The predominant symptoms of LDS include arterial aneurysms, arterial tortuosity, hypertelorism, and bifid uvula. However, this constellation of symptoms is not found in all patients with the disease. Genetic confirmation is essential for an accurate diagnosis. The prognosis for LDS differs from its mimics, such as Marfan syndrome, Beals syndrome, Ehlers-Danlos syndrome, and Shprintzen-Goldberg syndrome. Management of the disease warrants a multidisciplinary approach to address its various manifestations. Such an approach can help increase the life expectancy and improve the quality of life for these patients.

British doctors' work-life balance and home-life satisfaction: a cross-sectional study.

PURPOSE: To assess British doctors' work-life balance, home-life satisfaction and associated barriers. STUDY DESIGN: We designed an online survey using Google Forms and distributed this via a closed social media group with 7031 members, exclusively run for British doctors. No identifiable data were collected and all respondents provided consent for their responses to be used anonymously. The questions covered demographic data followed by exploration of work-life balance and home-life satisfaction across a broad range of domains, including barriers thereto. Thematic analysis was performed for free-text responses. RESULTS: 417 doctors completed the survey (response rate: 6%, typical for online surveys). Only 26% reported a satisfactory work-life balance; 70% of all respondents reported their work negatively affected their relationships and 87% reported their work negatively affected their hobbies. A significant proportion of respondents reported delaying major life events due to their working patterns: 52% delaying buying a home, 40% delaying marriage and 64% delaying having children. Female doctors were most likely to enter less-than-full-time working or leave their specialty. Thematic analysis revealed seven key themes from free-text responses: unsocial working, rota issues, training issues, less-than-full-time working, location, leave and childcare. CONCLUSIONS: This study highlights the barriers to work-life balance and home-life satisfaction among British doctors, including strains on relationships and hobbies, leading to many doctors delaying certain milestones or opting to leave their training position altogether. It is imperative to address these issues to improve the well-being of British doctors and improve retention of the current workforce.

Clinicopathological Study of Chronic Kidney Disease of Unknown Etiology in Odisha.

INTRODUCTION: Chronic kidney disease (CKD) is emerging as a serious health problem in Odisha, India. A new form of severe CKD affecting adults, not due to traditional risk factors like diabetes, hypertension, glomerulonephritis, has been reported in Sri Lanka, Central America, and Egypt in the last two decades. This has been named CKD of unknown origin (CKDu), and it is fatal due to late recognition and rapid disease progression. The aim of the study was to elucidate the association between different sociodemographic, and biochemical parameters with renal morphology in CKD of unknown origin patients. METHODS: A cross-sectional study was conducted on 124 consecutive patients with CKD from the period January 2018 to December 2018. Patients in the age group 18-60 years who met clinical criteria for CKD were included. Participants answered a questionnaire. After the necessary history, clinical evaluation, and blood and urine analyses, a kidney biopsy was undertaken. Kidney biopsy was feasible in 51 patients as the rest 61 patients had shrunken kidneys and 12 patients did not give consent. Patients with diabetes mellitus (DM), hypertension, glomerulonephritis, polycystic kidney disease, obstructive kidney disease or any other congenital diseases, snakebite, pregnancy, malignancy, gout, primary hyperparathyroidism, infectious diseases like human immunodeficiency virus (HIV), TB, Hepatitis B and C, malaria, syphilis, leprosy and coagulopathies were excluded. Among the 51 patients, 23 had CKDu, 25 had chronic glomerulonephritis and three biopsies were inconclusive. RESULTS: The mean age of CKDu patients was 36.78 ± 9.85 years. Males (73.9%) were predominantly affected. A family history of CKD was seen in 82.6% of CKDu cases. Hyponatremia and hypokalemia were predominant biochemical abnormalities in our CKDu cases. Binary logistic regression showed rural residence, family history of CKD, exposure to smoke from burning coal, charcoal, or biomass fuels, low socioeconomic status, and low body mass index were strongly associated with CKDu. There was an increased risk of developing CKDu in persons with a family history of CKD [p = 0.003, odds ratio (OR)- 17.58], persons exposed to smoke from burning coal, charcoal or biomass fuels (p = 0.003, OR- 32.4), and patients with low socio-economic status (p = 0.001, OR- 15.87). Interstitial fibrosis (IF), interstitial inflammation with mononuclear infiltration, tubular atrophy (TA), and global glomerulosclerosis (GS) were pertinent histopathological findings in our study. CONCLUSION: There is no strong evidence for a single cause for CKDu, and multiple environmental, occupational and social factors are probably involved. We need to design consistent and comparative multisite studies to identify etiologies of CKDu, across high-risk populations that may help elucidate the importance of region-specific vs global risk factors.

Branch Retinal Vein Occlusion as a Rare Presentation of Antisynthetase Syndrome.

A 52-year-old woman developed branch retinal vein occlusion (BRVO) in her right eye, resulting in blurred vision with visual acuities of 6/9 and 6/6-2 in the affected and unaffected eye respectively (Snellen). The patient was successfully treated with a course of eight intravitreal aflibercept injections, improving binocular visual acuity to 6/6. During the course of her ocular management, she was admitted for acute dyspnoea secondary to interstitial lung disease (ILD). The patient was diagnosed with the antisynthetase syndrome (ASS), testing positive for PL-7 auto-antibodies. ASS may have a systemic association with BRVO; although ASS is a rare condition, it should be suspected and investigated in patients with risk factors, particularly if they present with symptoms of ILD. Early ocular intervention is associated with excellent visual outcomes, and prompt diagnosis and treatment of ASS may potentially reduce risks of further retinal vaso-occlusive episodes.

British doctors' work-life balance and home-life satisfaction: a cross-sectional study.

PURPOSE: To assess British doctors' work-life balance, home-life satisfaction and associated barriers. STUDY DESIGN: We designed an online survey using Google Forms and distributed this via a closed social media group with 7031 members, exclusively run for British doctors. No identifiable data were collected and all respondents provided consent for their responses to be used anonymously. The questions covered demographic data followed by exploration of work-life balance and home-life satisfaction across a broad range of domains, including barriers thereto. Thematic analysis was performed for free-text responses. RESULTS: 417 doctors completed the survey (response rate: 6%, typical for online surveys). Only 26% reported a satisfactory work-life balance; 70% of all respondents reported their work negatively affected their relationships and 87% reported their work negatively affected their hobbies. A significant proportion of respondents reported delaying major life events due to their working patterns: 52% delaying buying a home, 40% delaying marriage and 64% delaying having children. Female doctors were most likely to enter less-than-full-time working or leave their specialty. Thematic analysis revealed seven key themes from free-text responses: unsocial working, rota issues, training issues, less-than-full-time working, location, leave and childcare. CONCLUSIONS: This study highlights the barriers to work-life balance and home-life satisfaction among British doctors, including strains on relationships and hobbies, leading to many doctors delaying certain milestones or opting to leave their training position altogether. It is imperative to address these issues to improve the well-being of British doctors and improve retention of the current workforce.