Aditya Birla Memorial Hospital

We report a rare case of vertebral osteomyelitis due to Mycobacterium farcinogenes in a patient who had undergone left-sided percutaneous nephrolithotomy for renal stones. Following the procedure, he developed a wound site infection that progressed to vertebral osteomyelitis and a paravertebral abscess. Initial treatment with empirical anti-tubercular drugs was ineffective. A computed tomography-guided aspiration and biopsy identified acid-fast bacilli as M. farcinogenes using Matrix-assisted laser desorption ionization-time-of-flight. Treatment was then tailored based on the susceptibility results, leading to a positive response.

Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities syndrome (DEGCAGS, MIM #619488) is caused by biallelic, loss-of-function (LoF) ZNF699 variants, and is characterized by variable neurodevelopmental disability, discordant organ anomalies among full siblings and infant mortality. ZNF699 encodes a KRAB zinc finger protein of unknown function. We aimed to investigate the genotype-phenotype spectrum of DEGCAGS and the possibility of a diagnostic DNA methylation episignature, to facilitate the diagnosis of a highly variable condition lacking pathognomonic clinical findings. We collected data on 30 affected individuals (12 new). GestaltMatcher analyzed fifty-three facial photographs from five individuals. In nine individuals, methylation profiling of blood-DNA was performed, and a classification model was constructed to differentiate DEGCAGS from controls. We expand the ZNF699-related molecular spectrum and show that biallelic, LoF, ZNF699 variants cause unique clinical findings with age-related presentation and a similar facial gestalt. We also identified a robust episignature for DEGCAGS syndrome. DEGCAGS syndrome is a clinically variable recessive syndrome even among siblings with a distinct methylation episignature which can be used as a screening, diagnostic and classification tool for ZNF699 variants. Analysis of differentially methylated regions suggested an effect on genes potentially implicated in the syndrome's pathogenesis.

Globally, hypertension is a major noncommunicable disease that contributes to significant fatalities and morbidity. Evaluation of trends in the prescription of antihypertensives and their adherence to the Joint National Commission 8 (JNC 8) recommendations can provide perspective on the dissemination of local and international guidelines in real-world clinical practice. An ambispective observational study was conducted over a duration of 6 months. Among the three-drug combinations, angiotensin receptor blockers (ARB) + beta-blocker (BB) + calcium channel blocker (CCB) (10%), followed by ARB + CCB + diuretic (DU) (8%), were primarily prescribed. BB + diuretic (DU) (20%) was the most prescribed in two-drug combination therapy, followed by ARB + BB (19%). BB (46%) were the most prescribed drugs, followed by diuretics (25%) as monotherapy. Combination therapy is as efficient as single-drug therapy. Among patients with hypertension and heart failure with reduced ejection fraction (HFrEF), the ARNI/ARB combination is effective in HFrEF patients. ARNI/ARB + antihypertensives were most commonly prescribed (40%), followed by ARNI/ARB + ivabradine + antihypertensives (35%). Adherence to the JNC 8 guidelines varied between 71 and 92%. Ninety-two percent of the prescriptions were adherent to initiating pharmacological treatment in patients aged over 60 years with a BP goal of <140/90, with thiazide/loop diuretics, CCB, and ACEI/ARB as first-line therapy. The pattern of prescribed drugs was in accordance with clinical guidelines. Compliance with JNC 8 guidelines was optimal. However, studies including larger patient populations, drug dosages used, and physician perspectives on prescribing need to be studied further.