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Multiple sclerosis (MS) is a chronic inflammatory disease that causes demyelination in the brain and spinal cord, leading to significant neurological disability in young adults. Patients with MS are predisposed to other autoimmune disorders, though the co-occurrence of MS and primary biliary cholangitis (PBC) is rare. PBC is an autoimmune liver disease that affects bile ducts, leading to cholestasis and liver cirrhosis, predominantly in women aged over 40 years. We report the case of an 81-year-old woman with a history of MS and hypertension, bedridden for 10 years, who was admitted with a severe sacral ulcer and bacteremia. During hospitalization, she developed persistent itching, and elevated liver enzymes were detected. Imaging ruled out cholecystitis but revealed a large gallstone and hepatomegaly. Elevated M2 antimitochondrial antibodies confirmed PBC. The patient was treated with ursodeoxycholic acid, leading to symptom improvement. This case highlights the necessity for a thorough evaluation of autoimmune comorbidities in patients with MS and suggests a potential genetic and environmental link between MS and PBC. Further research is needed to explore this association and improve treatment strategies.
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Background/purpose Janus kinase (JAK) inhibitors have been widely used in treating rheumatological conditions like rheumatoid arthritis (RA) and psoriatic arthritis (PsA). Despite their efficacy, there are concerns regarding major adverse cardiovascular events (MACE) and venous thromboembolism (VTE) associated with JAK inhibitors. This study aimed to evaluate the risk of MACE, VTE, and the impact on lipid profiles in patients being treated with JAK inhibitors. Methods We retrospectively reviewed electronic medical records of patients aged 45-65 years old treated with Tofacitinib, Baricitinib, or Upadacitinib in a rheumatology clinic. We collected data on demographics, comorbidities, medication use, laboratory results, and cardiac complications potentially related to JAK inhibitors. Results Among 100 patients prescribed JAK inhibitors, 71 were included in the study (with an average treatment duration of 2.5 years). The majority of patients were white (72%), followed by Hispanic (6%), Indian (11%), African American (10%), and Asian (1%). Patients were being treated primarily for RA (57%), followed by PsA (17%), colitis (20%), and alopecia areata (6%). There were no significant cases of VTE reported, with one patient developing a pulmonary embolism (PE) during treatment while also having COVID-19, making it difficult to attribute it solely to the medication. Similarly, only one case of atrial fibrillation occurred. However, 43% (31 patients) experienced worsening of their lipid profile, with increased cholesterol (18%), LDL (12.5%), both LDL and cholesterol (11%) or triglycerides (1.5%). In relation to diabetes mellitus (DM), 24 patients who experienced worsening of their lipid panel did not have a history of DM. Conclusion The study findings suggest that patients on Tofacitinib, Baricitinib, and Upadacitinib did not exhibit a high risk for MACE or DVT. However, there was a notable incidence of lipid panel worsening among patients, where 24 patients out of 31 did not have diabetes. Further research and monitoring may be needed to better understand the long-term effects of JAK inhibitors on cardiovascular health and lipid profiles in these patient populations. This real-world data reflects the current evidence that JAK inhibitors do not significantly raise the risk of MACE in patients with RA but do increase cholesterol levels in these patients that should be monitored closely.
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Carcinoid syndrome is a rare condition resulting from neuroendocrine tumors (NETs) that secrete vasoactive substances like serotonin. This report describes the case of a 61-year-old man with a history of chronic obstructive pulmonary disease (COPD) and hypertension who presented with new-onset angioedema, loss of consciousness, and a fall. He had been treated for COPD exacerbations during ER visits without improvement and was unaware of a prior mesenteric carcinoid tumor diagnosis from 2012. The next emergency evaluation revealed significant airway and facial edema necessitating intubation. Imaging and biopsy identified a well-differentiated grade 1 NET with extensive liver metastases. Laboratory tests showed elevated levels of serum serotonin, chromogranin A, and 24-hour urine 5-hydroxyindoleacetic acid (5-HIAA). Post-discharge, a PET scan confirmed metastatic lesions primarily in the liver and small bowel, with an unresectable mesenteric mass. The patient was treated with lanreotide and became symptom-free. This case underscores the need to consider carcinoid syndrome in patients with COPD presenting with unexplained respiratory symptoms, as timely diagnosis and treatment can significantly enhance patient outcomes.
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Systemic lupus erythematosus (SLE) is a persistent autoimmune disease where the immune system produces autoantibodies against nuclear and cytoplasmic antigens, leading to multi-organ involvement. Typically, nephrotic-range proteinuria is indicative of proliferative or membranous lupus nephritis. However, on rare occasions, patients with SLE and nephrotic syndrome may exhibit focal segmental glomerulosclerosis (FSGS) lesions upon kidney biopsy. We describe a 28-year-old Middle Eastern male with SLE and biopsy-proven lupus nephritis who experienced a significant increase in proteinuria and creatinine levels despite treatment with mycophenolate mofetil. Further investigation revealed FSGS without active lupus nephritis. The patient's treatment regimen was adjusted to rituximab in response to these findings. This case underscores the importance of renal biopsies in SLE management to accurately diagnose and tailor treatment. It highlights the need to consider alternative renal complications, such as FSGS, which can coexist with lupus nephritis, necessitating a collaborative approach between rheumatologists and nephrologists to achieve optimal patient outcomes.
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Myositis is a group of rare autoimmune disorders characterized by chronic inflammation of skeletal muscles that leads to a hallmark triad of muscle weakness, fatigue, and myalgia. Extra-muscular manifestations are sometimes seen and involve various organ systems, including the gastrointestinal (GI) tract. In this case series, two patients with polymyositis (PM) and dermatomyositis (DM), both of whom developed dysphagia as a complication of myositis, are discussed. Case 1 was a female with a known history of biopsy-proven dermatomyositis who presented with progressive peripheral edema and weakness affecting all extremities. Concurrently, she displayed symptoms of pneumonia and dysphagia associated with frequent spontaneous or self-induced vomiting to alleviate retrosternal discomfort. Esophagogastroduodenoscopy (EGD) revealed esophageal dilatation and an absence of a contractile response, consistent with myositis. Treatment comprised intravenous immunoglobulin (IVIG), mycophenolate, and lifestyle modifications, including dietary adjustments and maintaining an upright position postprandial. The second case was a female with muscle weakness and dysphagia. Video-fluoroscopic swallow assessment was significant for pharyngeal dysfunction without a sensory response to penetrated material, and the patient was at high risk of aspiration with any oral intake. The presence of pharyngeal dysfunction and dysphagia prompted treatment with IVIG, mycophenolate, and percutaneous endoscopic gastrostomy (PEG) tube placement. These cases have highlighted the upper GI complications observed in patients with myositis, accentuating the necessity for a personalized treatment approach. Timely intervention has shown promising results in symptomatic relief and improving patient outcomes. This emphasizes the importance of a multidisciplinary approach when addressing myositis-related upper GI manifestations.
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Multidrug-resistant (MDR) gram-negative bacteria have been causing havoc for the healthcare system because of the rarity of the treatment options available. Stenotrophomonas maltophilia is a non-fermenting gram-negative bacterium that causes different infections, particularly respiratory tract infections. It displays resistance to many antibiotics (e.g., carbapenems, fluoroquinolones, and trimethoprim-sulfamethoxazole). Cefiderocol is a novel antibiotic which still in the preclinical stages of Food and Drug Administration (FDA) approval for S. maltophilia. We present the case of a 76-year-old male with end-stage renal disease (ESRD), intubated for acute hypoxemic respiratory failure due to volume overload and worsening oxygenation, who subsequently developed ventilator-associated pneumonia, found to be due to MDR Stenotrophomonas maltophilia. The patient ultimately showed clinical improvement with a 7-day course with a renally adjusted dose of cefiderocol. This shows that cefiderocol can prove to be a potential treatment option against serious infections caused by difficult-to-treat S. maltophilia.
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Contrast-enhanced ultrasound (CEUS) is a relatively new approach for the definitive diagnosis of focal liver lesions (FLL). The essential advantages of CEUS are affordability, absence of radiation, and negligible nephrotoxicity-making this diagnostic approach more preferable. This review includes data from 39 different research studies published during the last 10 years, selected through the MeSH strategy in PubMed. We conclude that CEUS is a promising approach for diagnosing primary liver neoplasms and it is an excellent radiological approach for children and pregnant women because of the absence of radiation and nephrotoxicity. Studies showed that CEUS is a very good approach for the differentiation of a variety of hemangiomas and for a detailed description of those findings. Therefore, CEUS is an important and progressive method for the diagnosis of liver neoplasms. The regular use of CEUS will facilitate the diagnosis of primary liver lesions.
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Sickle cell trait and disease are potential risk factors for dementia and cognitive dysfunction in African Americans, as are genetic variants. This illness affects around 300 million people globally. Due to its ability to defend against severe malaria, it represents an evolutionary survival advantage. It has been shown that sickle cell disease and trait are independent risk factors for the prevalence and incidence of albuminuria and chronic renal disease. Sickle cell anemia impairs cognitive performance in people with minimal or mild manifestations of the genetic blood disorder, owing mostly to its cerebrovascular implications. Similarly, various cerebral minor vascular disorders, such as silent cerebral infarcts, have been linked to the sickle cell trait, which is associated with impaired cognitive ability. It has been found that patients with sickle cell disease have a significantly decreased subcortical and cortical brain volume. Adults and children with sickle cell disease have been documented to have attention-related issues, particularly reduced sustained attention.
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Sarcoidosis is a rare, chronic inflammatory disease with a characteristic non-caseating granuloma formation. It affects women more than men. The lung is the most commonly affected organ, however, extrapulmonary involvement is also seen. Sarcoidosis can affect any organ or tissue and can also involve multiple organs simultaneously. As a disease, it shares clinical symptoms with a variety of autoimmune, non-autoimmune disorders and malignancies. Not only it mimics clinically, but it also coexists with these diseases, posing a significant diagnostic challenge. During this literature review, we obtained data from the previously published PubMed articles within the last five years and reviewed the possible etiological association and clinical coexistence between sarcoidosis and other diseases/malignancies. We aimed to determine the common clinical manifestations, various complex presentations of sarcoidosis and pathophysiological considerations for the association, and to emphasize the link with other diseases, particularly thyroid disorders/malignancies. Physicians should be aware of these associated diseases and should always make a clinical suspicion when confronting a sarcoidosis patient. Thus, a comprehensive diagnostic evaluation for these associated conditions ought to be done in sarcoidosis patients to avoid any delay in the curative treatment for these coexisting diseases and to prevent substandard outcomes.
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Kikuchi-Fujimoto disease (KFD) is a rare benign disease, clinically characterized by fever and tender cervical lymphadenopathy affecting the posterior cervical lymph nodes. This disease is usually accompanied by night sweats, rashes, and headaches. It generally affects young individuals, especially females, of Oriental-Asian origin. The etiology of KFD remains uncertain, but associations have been noted with viral diseases including Epstein-Barr virus (EBV), herpes simplex virus (HSV), and varicella-zoster virus (VZV), as well as autoimmune disorders including systemic lupus erythematosus (SLE) and Sjogren's syndrome. This review points out the etiology of KFD with cervical lymphadenopathy alongside its clinical presentation, histological highlights, lab investigations, complications, and treatment. Accurate diagnosis of this disease depends on lymph node excisional biopsy. Three histological patterns of KFD are recognized: proliferative, necrotizing, and xanthomatous. Distinction from lymphadenopathy-associated alternate disorders (e.g., SLE, malignancy, tuberculosis, or another infectious lymphadenitis) is essential to ensure appropriate therapy. This self-limited condition entails nonsteroidal anti-inflammatory drugs (NSAIDs) for pain relief with consideration of corticosteroids and hydroxychloroquine in severe cases.
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The GTP-binding protein, Rho, plays a significant role in the cellular pathology of Parkinson's disease. The downstream effector of Rho, Rho-associated kinase (ROCK), performs several functions, including microglial inflammatory response and enhanced Parkin-mediated mitophagy. Its inhibition shows neuroprotective effects in carried studies. Parkinson's disease pathology also rests on incomplete removal of damaged mitochondria, leading to neuronal impairment. ROCK has different isoforms, inhibition of which have been shown to decrease the adverse changes in microglia. There has also been evidence of a decreased release of inflammatory cytokines and a reduction in degradation of dopaminergic neurons on the addition of ROCK inhibitors. Additionally, ROCK inhibitors have recently been shown to increase the activity of hexokinase 2 (HK2), relocating it to mitochondria, and therefore leading to upregulated mitochondrial targeting. Understanding the cellular basis of ROCK activity and its inhibition may help us advance in creating new strategies for the treatment of Parkinson's disease.
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Laparoscopic cholecystectomy has replaced conventional open cholecystectomy and has become the gold standard surgery for gall bladder pathologies. The harmonic scalpel is one of the instruments used to dissect and coagulate. Most surgeons accept the usage of the harmonic scalpel in laparoscopic cholecystectomy. The other standard method is electrocoagulation by electrocautery. The harmonic scalpel cholecystectomy has several advantages over other methods of laparoscopic cholecystectomy. Electrocoagulation by electrocautery produces smoke which can result in damage to lateral tissues, including the gall bladder. The clips are used along with electrocoagulation to seal cystic duct and cystic artery before dissection. There are various studies about bile leakage in the case of clip application. The harmonic scalpel uses ultrasonic energy to achieve hemostasis without bleeding, dissection, and gallbladder removal from the liver bed during laparoscopic surgery by causing coagulation of proteins. The patient outcome variables such as postoperative pain, duration of hospital stay, postoperative nausea and vomiting, surgical site infections, and other complications have not been compared in review articles. In this review, we collected the information from previously published studies and reviewed the outcomes of patients undergoing harmonic scalpel cholecystectomy. Harmonic scalpel cholecystectomy reduces the duration of hospital stay, duration of operation, intraoperative and postoperative complications, and postoperative pain. Thus the harmonic scalpel can be used instead of other instruments as it has better patient outcomes.