“Fleshy” Skin Cellulitis: A Triggering Factor for ANCA Associated Vasculitis

A 59-year-old lady with underlying hypothyroidism presented with acute contact dermatitis progressed to cellulitis with superimposed bacterial infection and acute kidney injury. She responded to initial management with antibiotics, but a week later, she had cutaneous and systemic vasculitis. Her skin biopsy consistent with immune-mediated leuko-cytoclastic vasculitis and her blood test was positive for cytoplasmic-anti-neutrophil cytoplasmic antibody (c-ANCA). A diagnosis of ANCA-associated vasculitis was made and she was treated with immunosuppressant with plasmapheresis and hemodialysis support for her kidney failure. Despite aggressive measures, the patient succumbed to her illness. This case report demonstrates that soft tissue infection could trigger the development of ANCA-associated vasculitis whilst a background of hypothyroidism serves as a predisposing factor as both condition were reported separately in a couple of case studies before

Digital Index of The Fingers with Digital Clubbing: An objective measurement to diagnose clubbed finger

Abstract Introduction: Digital clubbing can often be found as a clinical sign in patients with various underlying diseases. However, early signs of clubbing are often overlooked. To determine the Digital Index values from the fingers with clinical features of clubbing of varies conditions background. Method: This was a prospective, case-series, investigator-initiated observation by morphometry, conducted in Kuching General Hospital, Malaysia along 6 months duration. Participants were 46 patients with varies stage of clubbing of varies conditions and diseases. We measured the finger at the circumference of the Nail Fold and Distal Interphalangeal joint which determined the value of the Digital Index of a population with finger clubbing. Results: The value of the Digital Index of finger clubbing in this study was 9.89±0.68 (Mean±SD) for male and 9.87±0.39 (Mean±SD) for female. The value of the Digital Index of finger clubbing for all subjects together was 9.88±0.56 (Mean±SD) with a range of 8.43 to 11.26. Conclusion: Early clubbing often be overlooked. To avoid such condition, the physician should examine the fingers as a routine procedure. Measurement of Digital Index can be recommended to detect early clubbing. (J Respir Indo. 2019; 39(3):196-203) Keywords: Hippocratic fingers, digital clubbing, finger clubbing, watch glass nails, drumstick finger

"Fleshy" Skin Cellulitis: A Triggering Factor for ANCA Associated Vasculitis

A 59-year-old lady with underlying hypothyroidism presented with acute contact dermatitis progressed to cellulitis with superimposed bacterial infection and acute kidney injury. She responded to initial management with antibiotics, but a week later, she had cutaneous and systemic vasculitis. Her skin biopsy consistent with immune-mediated leuko-cytoclastic vasculitis and her blood test was positive for cytoplasmic-anti-neutrophil cytoplasmic antibody (c-ANCA). A diagnosis of ANCA-associated vasculitis was made and she was treated with immunosuppressant with plasmapheresis and hemodialysis support for her kidney failure. Despite aggressive measures, the patient succumbed to her illness. This case report demonstrates that soft tissue infection could trigger the development of ANCA-associated vasculitis whilst a background of hypothyroidism serves as a predisposing factor as both condition were reported separately in a couple of case studies before

Labrune’s Syndrome Presenting With Stereotypy-Like Movements and Psychosis : A Case Report and Review

Labrune’s syndrome, or leukoencephalopathy with brain calcifications and cysts (LCC), is a rare genetic syndrome with variable neurological presentations. Psychiatric manifestations and involuntary movements are uncommonly reported. We report the case of a 19-year-old female, initially diagnosed with Fahr’s syndrome, who presented to us with acute psychosis, abnormal behavior and involuntary movements. Her brain computed tomography showed extensive bilateral intracranial calcifications without cysts. Genetic testing detected two compound heterozygous variants, NR_033294.1 n.*9C>T and n.24C>T, in the SNORD118 gene, confirming the diagnosis of LCC. We discuss the expanding phenotypic spectrum of LCC and provide a literature review on the current diagnosis and management of this rare syndrome

The genetic architecture of the human cerebral cortex

The cerebral cortex underlies our complex cognitive capabilities, yet little is known about the specific genetic loci that influence human cortical structure. To identify genetic variants that affect cortical structure, we conducted a genome-wide association meta-analysis of brain magnetic resonance imaging data from 51,665 individuals. We analyzed the surface area and average thickness of the whole cortex and 34 regions with known functional specializations. We identified 199 significant loci and found significant enrichment for loci influencing total surface area within regulatory elements that are active during prenatal cortical development, supporting the radial unit hypothesis. Loci that affect regional surface area cluster near genes in Wnt signaling pathways, which influence progenitor expansion and areal identity. Variation in cortical structure is genetically correlated with cognitive function, Parkinson's disease, insomnia, depression, neuroticism, and attention deficit hyperactivity disorder

Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index

Recent genetic association studies have identified 55 genetic loci associated with obesity or body mass index (BMI). The vast majority, 51 loci, however, were identified in European-ancestry populations. We conducted a meta-analysis of associations between BMI and ∼2.5 million genotyped or imputed single nucleotide polymorphisms among 86 757 individuals of Asian ancestry, followed by in silico and de novo replication among 7488–47 352 additional Asian-ancestry individuals. We identified four novel BMI-associated loci near the KCNQ1 (rs2237892, P = 9.29 × 10−13), ALDH2/MYL2 (rs671, P = 3.40 × 10−11; rs12229654, P = 4.56 × 10−9), ITIH4 (rs2535633, P = 1.77 × 10−10) and NT5C2 (rs11191580, P = 3.83 × 10−8) genes. The association of BMI with rs2237892, rs671 and rs12229654 was significantly stronger among men than among women. Of the 51 BMI-associated loci initially identified in European-ancestry populations, we confirmed eight loci at the genome-wide significance level (P < 5.0 × 10−8) and an additional 14 at P < 1.0 × 10−3 with the same direction of effect as reported previously. Findings from this analysis expand our knowledge of the genetic basis of obesity