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Ghosal hematodiaphyseal dysplasia (GHDD) is a rare autosomal recessive disorder characterized by increased bone density involving diaphyses of long bones and defective hematopoiesis. It is due to biallelic variants in the TBXAS1 (OMIM*274180) gene, which encodes for thromboxane synthase. We present a rare case of a middle-aged woman who presented with chronic anemia and bone pain. About 31-year-old Southeast Asian female with a history of persistent iron deficiency anemia (6.1 gm/dL) presents with bilateral knee pain for 4 years. Autoimmune panel turned out to be negative. CT scan of the lower limbs showed multilamellated endosteal thickening specifically involving diaphyses with severe narrowing of medullary canal. PET CT scan revealed tubular remodeling, intramedullary ground glass matrix, and mild cortical thickening with increased FDG uptake in diaphyseal regions of femur and tibia. Bone marrow biopsy of left tibia revealed fibrocellular marrow with dyserythropoiesis. Considering the slow progression of illness over 4 years and radiological evidence suggestive of bone remodeling with severe narrowing of medullary canal as the cause of anemia, the patient underwent molecular analysis for GHDD. Results revealed homozygous p.Arg412Gln (exon 11) in TBXAS1 gene. Considering the effect of NSAIDs on cyclooxygenase and its downstream metabolites, oral Aspirin 150 mg/day was initiated. Hemoglobin improved to 11 gm/dL at 3-month follow-up visit. The complexity of reaching a diagnosis of GHDD underscores the importance of maintaining a high clinical suspicion and thorough analysis of radiological evidence. The treatment for GHDD involves aspirin, a readily available drug.

BackgroundBy 2023, COVID-19 had caused 6.8 million deaths in the United States. COVID-19 presents more severely in leukemia compared to solid tumors (OR 1.6, p

Scrub typhus, a zoonotic disease caused by Orientia tsutsugamushi and transmitted by chiggers, predominantly affects the Asia-Pacific region. Complications of Scrub Typhus involve multiple systems, including cardiovascular (pericarditis, arrhythmia, myocarditis), respiratory (acute respiratory distress syndrome), hepatic (hepatitis), and renal (azotemia). In this review, we comprehensively focused on the cardiac manifestations caused due to scrub typhus. Scrub typhus-induced pericarditis should be suspected in patients residing in endemic regions presenting with fever, thrombocytopenia, and pericardial effusion. If undetected, it frequently leads to cardiomegaly, pericardial effusion, and congestive heart failure. Heart failure with scrub typhus commonly occurs following myocardial inflammation, particularly in patients with pre-existing cardiac disorders. Scrub typhus myocarditis is a relatively rare, but serious cardiac complication with a high mortality rate of up to 24.0%. Arrhythmias arise due to the involvement of the interventricular septum, coronary artery, or cardiac valves causing variable ECG findings including sinus arrhythmia, T wave changes, and QTc interval prolongation. Atrial fibrillation due to scrub typhus is associated with a 1.3 fold increase in 3-month mortality. These cardiac complications are mainly assessed using electrocardiography (ECG) and echocardiography. Serology is the primary diagnostic tool for O. tsutsugamushi. While the Scrub Typhus Detect IFA test offers 100% sensitivity, the Weil Felix test is specific and cost-effective. Nested PCR and ELISA are effective for early detection but are limited to resource-rich settings. Diagnostic difficulties arise from nonspecific symptoms and current testing limitations. Vaccine development using extracellular vesicles, nanoparticles, and subunit vaccines shows promise. Combined therapy with doxycycline and azithromycin is recommended for cardiac complications, alongside guideline-directed therapy. The review underscores the need for heightened clinical awareness and prompt management of scrub typhus, especially in endemic regions. It also highlights the necessity for further research into the pathogenesis of cardiac involvement and the development of more effective diagnostic tools and treatments.

Abstract Introduction Extrapulmonary tuberculosis (EPTB) adds to India’s significant economic burden, with pericardial effusion being a potentially fatal complication. This case report highlights the need for early diagnosis and the feasibility of shorter-duration treatment for EPTB in developing countries. Presentation This case report describes a 19-year-old male from Southeast Asia who had a history of bronchiectasis involving the left lower lobe and the right middle lobe, which was cystic in nature, as well as multiple episodes of non-tuberculous pneumonia. Currently, he presented with fever, hypotension, tachycardia, and acute kidney injury. Echocardiogram showed left ventricular dysfunction with a left ventricular ejection fraction (LVEF) of 45% and moderate pericardial effusion. Early signs of cardiac tamponade were noted, specifically the absence of respiratory variation in the right ventricle and left ventricle collapse. Emergent pericardiocentesis was performed, and hemorrhagic pericardial fluid was aspirated. Fluid analysis revealed high levels of LDH (5000 U/L), polymorphonuclear leukocytosis, and acid-fast bacilli that were visualized on microscopy, which led to the diagnosis of pericardial tuberculosis. A CT of the abdomen showed hepatosplenomegaly and polyserositis. Empirically, antitubercular therapy consisting of isoniazid, rifampin, pyrazinamide, and ethambutol was administered for 2 months and isoniazid along with rifampicin was given for the next 4 months. Serial echocardiograms in the following months showed an improvement in LVEF (55%) and decreased effusion. However, during this treatment period, due to frequent episodes of pneumonia, the evaluation of immunodeficiency disorders was performed and revealed low levels of IgG (4.741 g/L), IgA (0.238 g/L), and IgM (0.098 g/L). He was diagnosed with common variable immunodeficiency disease and received intravenous immunoglobulin therapy. Conclusion This report emphasizes the timely identification of cardiac tamponade and the effective management of EPTB through a shorter-than-recommended course of antitubercular therapy, resulting in the alleviation of symptoms and better overall health outcomes.

BackgroundRapid screening tools such as the WHO well-being Index (WWBI), Six-item screener (SIS), and the CLOX-1 test can be used to assess overall mental health and cognition, respectively. We sought to evaluate mental health with cognition in individuals with chronic diseases and stable vital signs presenting to the Emergency Department (ED).MethodsAn observational study in the ED with 279 participants was conducted.ResultsChronic diseases were more prevalent among 51–70 years (43.4%) and diabetes was most common (58.8%). Fever (22.6%) and GI bleeding (32.6%) presentation were high. Participants with low WWBI had low SIS compared to the ones with higher scores (83.3% vs. 17.7%, p

Bilothorax, an exudative pleural effusion due to the accumulation of bile. It is also called cholethorax or thoracobilia and was initially reported in 1971. Here, we report a rare case of an elderly male presenting with bilateral bilothorax due to esophageal rupture. A 78-year-old man with multiple medical ailments presented to the emergency room (ER) with a severe episode of vomiting accompanied by a popping sound, respiratory distress, and right sided chest pain. The patient had tachycardia, BP of 101/89 mm Hg, and tachypnea. Computed tomography scan of the chest and abdomen revealed air adjacent to the esophagus, suggesting perforation, atelectasis of right lung, and bilateral pleural effusion (R > L). However, an esophagram did not reveal any perforation. Right-sided chest tube drained dark green bilious fluid. The day after admission, he experienced hemodynamic compromise and hypoxemia requiring intubation, along with fluids and inotropes support. Diagnosis of bilateral bilothorax complicated by hypoxemic respiratory failure with septic shock was made. Cultures were drawn, and empiric antibiotics were started. Nuclear hepatobiliary scan (HIDA) was performed to rule out a hepatobiliary fistula. Results showed reflux activity in the stomach, and distal esophageal leak was identified. Gastrojejunal stenting was performed. However, after prolonged intubation, the family decided on terminal extubation, and he died while receiving hospice care. This case highlights the rarity of bilateral bilothorax, where the HIDA scan played a crucial role in identifying an esophageal leak as the underlying cause, despite normal esophagram results. This condition necessitates prompt diagnosis and aggressive therapeutic interventions.