The Journal of the Association of Physicians of India最新文献

Background: Iron deficiency anemia (IDA) affects approximately 2 billion individuals globally, yet optimal response to oral iron supplementation remains unpredictable. The oral iron absorption test (OIAT) represents a potentially valuable diagnostic tool for predicting therapeutic response and identifying underlying gastrointestinal malabsorption syndromes.

Materials and methods: This prospective study enrolled 190 IDA patients at a tertiary care center. After collecting baseline hematological parameters, participants underwent OIAT by receiving 60 mg of elemental iron, with serum iron levels measured at baseline and after 2 hours. Patients with abnormal OIAT results underwent additional investigations to identify underlying malabsorption syndromes.

Results: Among the participants (mean age 32.34 ± 11.84 years, 90.5% female), 34.2% demonstrated abnormal OIAT results. Malabsorption was diagnosed in 19.5% of subjects, with Helicobacter pylori infection (54.1%), autoimmune gastritis (27.0%), and celiac disease (18.9%) as the predominant etiologies. OIAT showed excellent sensitivity (89.2%), good specificity (79.1%), and exceptional negative predictive value (97.6%) for identifying malabsorption syndromes.

Conclusions: OIAT demonstrates robust diagnostic performance for predicting response to oral iron therapy and identifying malabsorption syndromes in IDA. The high negative predictive value positions OIAT as an effective first-line screening tool, potentially reducing the need for invasive investigations in patients with normal test results.

Background: Glomerular diseases are a major contributor to chronic kidney disease, with regional variability influenced by genetic, environmental, and healthcare factors. In Northwest India, minimal change disease (MCD) was historically the most common primary glomerular disease (PGD). However, evolving diagnostic capabilities and the disruptions caused by the COVID-19 pandemic may have altered the landscape of glomerular disease presentations and biopsy practices.

Objectives: To reassess the clinicopathologic spectrum of glomerular diseases from 2020 to 2024, compare it with data from 2008 to 2013, and evaluate the impact of the COVID-19 pandemic on biopsy activity and disease distribution.

Methodology: We retrospectively analyzed 925 renal biopsies from 2020 to 2024 and compared them with 622 biopsies from 2008 to 2013. All samples underwent light microscopy (LM) and immunofluorescence (IF) staining (IgA, IgG, IgM, C3, and C4). Diagnoses were categorized into PGD, secondary glomerular disease (SGD), and others. Clinical presentations, including nephrotic syndrome (NS) and acute kidney injury (AKI), were recorded. Statistical comparisons were made using Chi-square (χ²) and Z-tests (SPSS v29), with p < 0.05 considered significant.

Results: Glomerulonephritis remained predominant (93.9%) with a significant shift in distribution (χ² = 121.5, p < 0.0001). IgA nephropathy increased from 7.4 to 15.4%, overtaking MCD (which declined from 21.1 to 8.1%) as the leading PGD. Focal segmental glomerulosclerosis (FSGS) rose to 12.4%, while diabetic nephropathy (DN) increased to 3.1%. Nephrotic syndrome was the most common presentation (59.3%). Biopsy volume declined by 60% in 2020 but rebounded by 2022.

Conclusion: These findings highlight evolving diagnostic trends and underscore the need for broader biopsy access, enhanced diagnostic tools, and a national renal biopsy registry in India.

Acute intermittent porphyria (AIP) is a neurovisceral disease with multisystemic clinical manifestations, which are often nonspecific and highly variable. The triad of convulsions, abdominal pain, and hyponatremia in a young woman points toward acute porphyria. AIP should be suspected in all cases of abdominal pain if it is associated with seizures, hyponatremia, encephalopathy, autonomic hyperactivity, a history of passage of dark urine, or acute flaccid paralysis. Here we describe a case of AIP in a male patient who presented with abdominal pain, seizures, and hyponatremia. He had unusual features, such as rhabdomyolysis, hyponatremia due to reset osmostat, mild elevation of pancreatic and liver enzymes, mild renal dysfunction, and reversible biochemical hyperthyroidism.

Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes, also known as MELAS, is an uncommon genetic disorder of mitochondrial inheritance. It presents as variable neurological and systemic manifestations. Here, we present a case of a young male who was a known case of seizure disorder and multiple neurological deficits. His clinical presentation included progressive hearing loss, diminution of vision, and recurrent headaches with vomiting. Neurological examination showed asymmetric limb weakness. Young-onset stroke was evaluated, and a magnetic resonance imaging (MRI) scan showed bilateral parieto-occipital hyperintensities. Serum lactate levels were high, which increased the suspicion of MELAS. m.3243A>G mutation was detected in mitochondrial DNA, confirming the diagnosis. Treatment involved the adjustment of antiepileptic therapy and the initiation of mitochondrial supplements. Our case emphasizes the heterogeneous clinical presentation and diagnostic challenges of MELAS as an important cause of young-onset stroke, highlighting the importance of early suspicion and confirmatory investigations for personalized management strategies to optimize patient outcomes.

Background: India bears a significant burden of asthma, and asthma in India is characterized by high mortality rates. Poor adherence to treatment guidelines is observed. Several inhaled corticosteroid (ICS) with long-acting beta (β) 2 agonist (LABA) combinations are commercially marketed in India, formoterol fumarate-fluticasone propionate being one of them. Real-world Indian studies on fluticasone-formoterol from India are scarce. This study aims to evaluate the effectiveness and safety of formoterol fumarate (6 µg) and fluticasone propionate (250 µg) administered through a dry powder inhaler (DPI) or metered-dose inhaler (MDI) in Indian asthma patients.

Materials and methods: This 24-week prospective, multicenter study (CTRI/2023/08/056250) evaluated Formoflo 250 (formoterol fumarate 6 µg with fluticasone propionate 250 µg) transcaps (DPI), and Formoflo 250 transhaler (MDI) in adults aged 18-65 years. The primary endpoint was the mean change in trough forced expiratory volume in 1 second (FEV1) at week-24. Secondary endpoints included changes in trough forced vital capacity (FVC), asthma control test (ACT), and asthma quality of life questionnaire (AQLQ) scores. Safety was assessed through adverse events (AEs) and asthma exacerbations, with appropriate statistical analyses conducted on the modified intention-to-treat (mITT) population.

Results: A total of 503 patients were enrolled, with 495 included in the mITT analysis and all 503 in the safety analysis. At week-24, a mean increase of 312.2 ± 121.1 mL was observed in trough FEV1, while trough FVC improved by 279.3 ± 147.3 mL (p < 0.0001). The mean ACT score increased by 11.6 ± 3.7 (p < 0.0001), while the mean AQLQ score improved by 2.5 ± 1.2 (p < 0.0001) at week-24. Adverse events were reported in 7.0% of patients, primarily mild, with no serious AEs or fatalities. The findings were consistent across both Formoflo DPI and MDI formulations.

Conclusion: The combination of formoterol fumarate and fluticasone propionate significantly improved lung function, asthma control, and quality of life, demonstrating marked effectiveness and safety with both DPI and MDI in Indian asthma patients.

Background: Hypokalemic paralysis is a rare but potentially life-threatening neuromuscular emergency characterized by the sudden onset of flaccid weakness due to reduced serum potassium. While inherited channelopathies represent primary causes, secondary etiologies-particularly endocrine, renal, and metabolic disorders-are more frequently encountered and require timely recognition to avoid complications.

Case summary: We report four patients presenting with acute flaccid paralysis associated with documented hypokalemia (serum potassium <3.5 mmol/L). The first case involved a pregnant woman with primary hyperaldosteronism due to an adrenal adenoma, managed initially with spironolactone and subsequently cured by adrenalectomy. The second case was a normotensive female diagnosed with distal renal tubular acidosis (dRTA) in the setting of Sjögren's syndrome, treated with potassium citrate and sodium bicarbonate. The third case was a young male with thyrotoxic periodic paralysis (TPP) secondary to Graves' disease, who improved with antithyroid drugs and beta-blockers. The fourth case described a young male with primary hypokalemic periodic paralysis (HPP), presenting with exertion-induced weakness, successfully treated with intravenous potassium supplementation.

Conclusion: This case series underscores the diverse etiologies of hypokalemic paralysis, spanning endocrine, renal, autoimmune, and genetic causes. A systematic diagnostic approach, guided by clinical and biochemical evaluation, is essential for timely treatment. Identifying the underlying cause not only ensures effective acute management but also prevents recurrence and reduces the risk of serious complications, including cardiac arrhythmias.

Background: Globally, medical students had demonstrated poor sleep quality. Poor sleep can negatively affect cardiovascular functions. The autonomic nervous system (ANS) regulates cardiovascular function during the sleep-wake cycle and can be monitored by heart rate variability (HRV). The primary objective was to determine any association between sleep quality and HRV parameters in medical students.

Materials and methods: A cross-sectional study was conducted at a single institution in North India. The Pittsburgh Sleep Quality Index (PSQI) was used to assess sleep quality. HRV was recorded using Power Lab AD Instrument (Australia). The correlation between HRV variables and sleep parameters was estimated using Pearson's correlation coefficient and Spearman correlation based on the normality test.

Results: A total of 84 medical students (54 males and 30 females) participated in the study. The mean total PSQI score was 6.44 (SD = 2.62). There was a statistically significant negative correlation between PSQI global score and HRV indices high frequency (HF), root mean square successive difference (RMSSD), and the proportion of differences in consecutive RR intervals that are longer than 50 ms in % (pRR50). A statistically significant positive correlation between PSQI global score and low frequency (LF), and LF/HF ratio was found.

Conclusion: The present study found that parasympathetic-related indices (RMSSD, pRR50, and HF) were inversely correlated to poor sleep quality and directly related to sympathetic indices (LF and LF/HF). This suggests that the poorer the sleep quality, the less is the parasympathetic activity and the more is the sympathetic activity.

Background: Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is a rare autoimmune neuroinflammatory disorder. While it typically presents as optic neuritis, myelitis, or acute disseminated encephalomyelitis (ADEM), its manifestation as pyrexia of unknown origin (PUO) with subsequent meningitis is extremely rare.

Case description: We report a 17-year-old male who presented with persistent fever and headache, without focal neurological deficits. Extensive infectious workup was inconclusive. Cerebrospinal fluid (CSF) analysis revealed mild pleocytosis, and empirical antibiotics were initiated without clinical improvement. A repeat CSF analysis demonstrated worsening pleocytosis, prompting an expanded autoimmune and neuroinflammatory panel. MOG-IgG antibodies were detected in both serum and CSF, confirming the diagnosis of MOGAD. The patient responded well to high-dose corticosteroids followed by mycophenolate mofetil for maintenance therapy.

Conclusion: This case highlights the importance of considering MOGAD in patients with unexplained fever and headache with inflammatory CSF. Early recognition and prompt immunotherapy initiation are essential for optimal outcomes. A favorable outcome was observed following timely immunotherapy.

The kidneys are frequently affected by antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV), which comprises renal-restricted vasculitis, eosinophilic granulomatosis with polyangiitis (EGPA), microscopic polyangiitis (MPA), and granulomatosis with polyangiitis (GPA). The most prevalent kidney disease is glomerulonephritis. On direct immunofluorescence (DIF), they show an absence of any immune complex deposition and hence are regarded as "pauci-immune glomerulonephritis" (PIGN). Around 10-40% of AAV are ANCA negative (seronegative PIGN). They tend to show a more limited disease, fewer extra-renal manifestations, and a lower overall Birmingham Vasculitis Activity Score (BVAS). In the absence of ANCA positivity in blood, a consistent clinical picture supported by tissue diagnosis is the only tool to diagnose such cases. Here we present a case of a 58-year-old male who presented with a history of prolonged fever, hematuria, and generalized palpable purpura all over the body. His blood for ANCA was negative. After a kidney biopsy, he was finally diagnosed with ANCA-negative pauci-immune vasculitis and was treated with rituximab.