Gene/Protein Disease Symptom Drug Enzyme Compound
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 31,184 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Myasthenia gravis (MG), a neuromuscular junction autoimmune disease, sometimes complicates second malignancies; however, T-cell lymphoproliferative disorders have rarely been reported. A 55-year-old man, who received oral tacrolimus and prednisolone for MG for 16 years after thymectomy, presented with left abdominal pain, lymphadenopathy, and splenomegaly. A lymph node biopsy revealed peripheral T-cell lymphoma, not otherwise specified (PTCL-NOS). This is the first report of oral tacrolimus leading to a T-cell lymphoproliferative disorder in patient without a history of transplantation. Physicians should be aware of the possibility of rare T-cell lymphoproliferative disorders, such as PTCL-NOS, occurring as complications in MG patients on immunosuppressive regimens after thymectomy.
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PMID:Myasthenia Gravis Complicated with Peripheral T-cell Lymphoma, Not Otherwise Specified (PTCL-NOS), Following Thymectomy and Longstanding Tacrolimus Therapy. 2926 44

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare life threatening congenital autoimmune disorder caused by mutations in the forkhead box protein 3 (FOXP3) gene. The main typical clinical manifestations of IPEX are enteropathy, type 1 diabetes mellitus, and skin diseases, which usually appear in the first months of life and cause death without treatment. Here, we report a 6-year-old boy with late-onset IPEX syndrome due to a c.1190G>A (p. R397Q) mutation in exon 11 of the FOXP3 gene. The boy had intractable diarrhea, abdominal pain, recurrent infections, and failure to thrive. However, diabetes and skin diseases were not observed in the patient. The patient was received metronidazole, teicoplanin, fluconazole, mycamine, ceftriaxone, azithromycin, and fecal microbiota transplantation for treating infections, methylprednisolone and infliximab for suspicion of Crohn's disease after admission. Finally, the boy was diagnosed as IPEX syndrome by genetic test and received hematopoietic stem cell transplantation (HSCT). Our findings suggests that IPEX should be considered in cases of late-onset, mild forms, and less typical clinical manifestations to avoid diagnostic delay.
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PMID:Atypical Late-Onset Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome with Intractable Diarrhea: A Case Report. 2931 5

Hypocomplementemic urticarial vasculitis syndrome (HUVS) is a rare autoimmune disease characterized by multiple organ system involvement, including renal disease, with low complement levels. We report the case of a 31-year-old woman who presented with nonspecific symptoms including fatigue, diarrhea, macular rash and abdominal pain with acute renal failure leading to end-stage kidney disease. Laboratory results showed hematuria, nephrotic range proteinuria, worsening creatinine and low C1q levels. Left kidney biopsy showed proliferative glomerulonephritis with crescent formation. She was treated with 6 months of intravenous cyclophosphamide, followed by 2 doses of intravenous rituximab (1g each), thereafter maintained on mycophenolate mofetil and glucocorticoid-based therapy. She experienced a full recovery of renal function after 12 months of dialysis dependence. Hypocomplementemic urticarial vasculitis syndrome with crescentic glomerulonephritis is a rare disease with only 5 other reported cases in literature. In our case, we document a delayed but excellent renal recovery during a 2-year follow-up.
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PMID:Hypocomplementemic Urticarial Vasculitis Syndrome With Crescentic Glomerulonephritis. 2940 49

Guillain-Barre syndrome is a rare but fatal autoimmune disease. The exact cause of Guillain-Barre syndrome is still unknown. The most common known etiology of Guillain-Barre syndrome is infectious disease notably caused by Campylobacter jejuni. A very small fraction of people can develop Guillain-Barre syndrome due to vaccines and vaccinations like a meningococcal vaccine, poliovirus vaccine, influenza vaccine, and rabies vaccine. Of all these, rabies is fatal invariably. It can be preventable if diagnosed early and post-exposure treatment is followed according to the World Health Organization guidelines. Older formulations of rabies vaccines are cultured in the neural tissues and have been found to have an increased risk of Guillain-Barre syndrome. Although less immunogenic older formulations of rabies vaccines are more commonly used in Asian and South American countries due to their cost-effective nature. There is little to no data available on the incidence of Guillain-Barre syndrome due to vaccinations in Pakistan. Most of the cases of Guillain-Barre syndrome due to vaccination are either undiagnosed or misdiagnosed. In this case report, we are presenting a case of vaccine-associated Guillain-Barre syndrome due to neural tissue anti-rabies vaccine in a young girl, who presented with lower limb weakness, inability to pass urine and abdominal pain.
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PMID:Post Vaccination Guillain Barre Syndrome: A Case Report. 2993 Aug 89

Systemic lupus erythematosus (SLE) is an autoimmune disease known to affect a variety of organ systems. Patients with SLE are more prone to developing common infections that can mimic the complications of SLE. As such, it is essential to differentiate complications of SLE from infection to ensure appropriate management and to improve morbidity and mortality of this patient population. Here we present a 24-year-old, Hispanic male, with SLE complicated by dialysis-dependent end-stage renal disease and dilated cardiomyopathy. The patient presented to the emergency room with nausea, vomiting, and abdominal pain and admitted to the medicine service. Initial evaluation showed hypoalbuminemia coupled with elevated transaminases, INR, and total bilirubin consistent with acute liver failure. Further evaluation was negative for viral, toxic, metabolic, or vascular causes of acute failure. The patient was diagnosed with lupus hepatitis and associated acute hepatic failure, and started on high dose prednisone (60 mg daily). Complete resolution of liver function and symptoms was observed within 1 week at follow-up. The patient was readmitted 2 weeks after discharge with left scrotal pain and swelling after abruptly decreasing the prescribed prednisone dose 3 days after discharge. Physical exam and scrotal ultrasound in the emergency department were consistent with epididymitis. Urinalysis, urine culture, and gonorrhea and chlamydia PCR were all negative. Without evidence of infection, and upon reconfirmation of low serum complement levels, the patient was diagnosed with lupus epididymitis and restarted on high dose prednisone. Complete resolution of symptoms was attained within 1 week at follow-up. This case emphasizes the importance of differentiating the clinical manifestations of SLE from infection and the complexity of disease presentation in Hispanic patients.
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PMID:Acute Hepatic Failure and Epididymitis in a Hispanic Patient With Active Systemic Lupus Erythematosus. 3011 43

Autoimmune pancreatitis (AIP) is a rare systematic autoimmune disease that causes chronic pancreatitis. Type 1-AIP (IgG4-related disease) may involve other organs as well. In this report we are presenting a case of a 74-year-old man with obstructive abdominal pain jaundice, mild and a history of retroperitoneal fibrosis and hydronephrosis. Labs were remarkable for hyperbilirubinemia, high serum IgG4 levels, mildly elevated CA 19-9, elevated rheumatoid factor and new onset diabetes. MRI revealed pancreatic enlargement, dilated intrahepatic bile ducts and stricture of the distal common bile duct concerning for cholangiocarcinoma. EUS-FNA biopsy was negative for malignancy but showed findings of pancreatitis. The diagnosis of type 1-AIP was made and the patient was treated with steroids. After one month of treatment jaundice and MRI findings resolved. It is important to include AIP in the differential diagnosis of pancreatic conditions causing obstructive jaundice, especially in the presence of other autoimmune conditions like retroperitoneal fibrosis.
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PMID:Autoimmune pancreatitis associated with retroperitoneal fibrosis mimicking cholangiocarcinoma. 3015 51

BACKGROUND Drug-induced liver injury (DILI) can present clinically as a spectrum that includes asymptomatic elevation of transaminases, acute or chronic hepatitis, and acute liver failure. Idiosyncratic DILI is more likely to affect individuals with comorbidities, and to have a wide range of clinical presentations. Although antibiotics are associated with DILI, the fluoroquinolone, ciprofloxacin, is a rarely reported cause. Two cases of idiosyncratic DILI following ciprofloxacin treatment are described, including a review of the literature. CASE REPORT Case 1: A 35-year-old man was treated with ciprofloxacin for periorbital cellulitis. On the second day of ciprofloxacin treatment, he developed abdominal pain, nausea, vomiting and increased serum levels of liver transaminases, aspartate aminotransferase (AST), and alanine aminotransferase (ALT). Further investigations excluded infectious hepatitis, autoimmune disease, or structural liver disease. Exclusion of other causes of DILI and cessation of ciprofloxacin resulted in clinical improvement and normalization of liver function tests (LFTs). Case 2: An 82-year-old man was treated with ciprofloxacin for osteomyelitis. On the tenth day of ciprofloxacin treatment, he developed jaundice and abnormal LFTs, including increased AST, ALT, alkaline phosphatase (ALP), and total bilirubin. Further investigations excluded infectious hepatitis, autoimmune disease, or structural liver disease. Exclusion of other causes of DILI and cessation of ciprofloxacin resulted in clinical improvement and normalization of LFTs. CONCLUSIONS Idiosyncratic DILI due to ciprofloxacin treatment is rare. These two cases have shown that timely diagnosis and discontinuation of ciprofloxacin can prevent the progression of DILI, reduce liver damage, and reduce mortality rates from DILI.
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PMID:Idiosyncratic Drug-Induced Liver Injury Due to Ciprofloxacin: A Report of Two Cases and Review of the Literature. 3026 95

Sclerosing mesenteritis is a rare disease entity initially described in 1924 with a prevalence reported to be less than 1%. Sclerosing mesenteritis is a comprehensive term used to describe three almost similar clinical entities including mesenteric panniculitis, retractile mesenteritis, and mesenteric lipodystrophy which only differ by their histology. The etiology of sclerosing mesenteritis is uncertain, but the disease has been associated with trauma, autoimmune disease, surgery, and malignancy. The typical presenting symptom is the abdominal pain, but sclerosing mesenteritis has a broad constellation of presenting symptoms which often makes consideration of the diagnosis unlikely. Treatment for this little-understood disease ranges from surgical intervention for patients presenting with obstructive symptoms to immunosuppressive medical therapy for patients presenting with pain. The purpose of this article is to provide an overview of the literature relevant to the diagnosis, etiology, and management of this condition in hopes of making physicians aware of this unique condition.
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PMID:Sclerosing mesenteritis: a comprehensive clinical review. 3030 75

Systemic lupus erythematosus (SLE) is a chronic excacerbative autoimmune disease with wide clinical spectrum. Gastrointestinal manifestasion is a frequent clinical manifestasion seen in SLE. Management with glucocorticoid and non-steroid anti-inflammatory drugs (NSAID) can mask the gastrointestinal symptoms in patient with SLE. One of the etiologies of gastrointestinal manifestations in SLE is acute appendicitis. Patients with acute appendicitis usually have abdominal pain as its chief complaint. The pathophysiology of acute appendicitis can occur primarily from SLE and secondary from other causes eg: infection, inflammation, etc. When a SLE patient has acute appendicitis as its initial assessment, determining its etiology is pivotal to give comprehensive management and preventing life-threatening complications.
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PMID:Acute Appendicitis in a Patient with Systemic Lupus Erythematosus. 3063 Sep 99

Our understanding of celiac disease is rapidly expanding. Previously thought to be a rare food intolerance, celiac disease is now recognized as a multifactorial autoimmune disorder with a vast array of presentations. Symptoms range from classic diarrhea, weight loss, and abdominal pain to constipation and extra-intestinal manifestations including anemia, elevated transaminase levels, osteoporosis, or aphthous stomatitis. Some cases are "silent" with no apparent symptoms at all. Although endoscopic biopsy and histology findings remain the gold standard for confirmatory diagnosis, serologic testing options continue to advance. Tissue-transglutaminase (tTG) IgA antibody levels alone have shown high sensitivity and specificity in patients over 2 years of age. The mainstay of treatment remains strict lifetime adherence to a gluten-free diet. Further discussion on the prevalence, pathogenesis, presentation, testing, and management of celiac disease will follow.
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PMID:Pediatric Celiac Disease - A Review. 3083 89


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