The Autoimmune Gender Gap: A Rare Case of a Male Patient With Overlapping Autoimmune Hepatitis and Primary Biliary Cholangitis.

Autoimmune hepatitis (AIH) is a condition resulting in chronic, inflammatory changes to the liver. Primary biliary cholangitis (PBC) is an autoimmune condition that destroys intrahepatic bile ducts. Overlap syndrome with concomitant AIH and PBC comprises a rare subgroup of patients with immune-mediated liver disease, with incidence rates of male patients being exceedingly uncommon in a predominantly female patient population. Our case report investigates a rare case of a 41-year-old male patient diagnosed with overlapping AIH and PBC. He initially presented with symptoms of fatigue, pruritus, and episodes of Raynaud's phenomenon, in addition to findings of persistently elevated liver enzymes despite lifestyle modifications. He had no past medical history, no history of alcohol use disorder, and no family medical history of chronic liver disease. Imaging did not reveal evidence of cirrhosis. Further diagnostic workup was significant for elevated immunologic markers for antinuclear antibodies (ANA) with positive centromere and cytoplasmic patterns, antimitochondrial antibodies (AMA) with F-actin antibodies, anti-smooth muscle antibodies (ASMA), and cytoplasmic antinuclear cytoplasmic antibodies (ANCA C). Liver biopsy showed prominent plasma cells and rare granulomas, consistent with the diagnosis of AIH with a component of PBC, respectively. He was started on ursodeoxycholic acid (UDCA), demonstrating a near-complete clinical response with resolution of symptoms and normalization of liver enzymes. Studies investigating the low incidence of male patients with overlap syndrome are limited, as current research is overwhelmingly based on studies with predominantly female subjects. However, most studies generally recommend treatment with both UDCA and corticosteroids to reduce symptoms and biochemical markers. Our case report highlights a rare case of a male patient documenting excellent biochemical and clinical responses to monotherapy with UDCA. A possible theory is that our patient's early treatment (prior to advanced disease progression) is associated with his near-complete biochemical response and symptomatic resolution on UDCA alone. Further research is needed to fully understand the clinical course and long-term prognosis of male patients with overlap syndrome. Our patient remains in life-long follow-up to monitor if or when he requires treatment with corticosteroids in addition to current monotherapy with UDCA.​.

Distinguishing Acute Rheumatic Fever From Post-streptococcal Reactive Arthritis.

We report an initial episode of post-streptococcal reactive arthritis (PRSA) in a 61-year-old male with group A streptococcal (GAS) bacteremia. The disease is commonly reported in young children and young adults. Additionally, this patient exemplifies the nonlinear boundaries of acute rheumatic fever (ARF) and PRSA, bringing into question whether they are truly distinct disease entities. These two conditions oftentimes present in similar fashions, making it difficult for clinicians to determine a specific diagnosis. We highlight the importance of recognizing ARF versus PRSA as an incorrect diagnosis can lead to the development of harmful complications including rheumatic heart disease (RHD).

Influence of HIV on in-hospital outcomes in patients with atrial fibrillation.

BACKGROUND: The development of highly active anti-retroviral therapy (HAART) has markedly prolonged the life expectancy of individuals with human immunodeficiency virus (HIV). The prevalence of age-related cardiovascular disease (CVD) and arrhythmias is therefore expected to increase among the HIV-positive population. OBJECTIVES: We aimed to assess the trends in prevalence, and inpatient outcomes among patients with HIV and atrial fibrillation (AF). METHODS: Using ICD-9-CM coding, we identified 38,252,858 HIV-negative and 31,224 HIV-positive encounters with AF from the National Inpatient Sample (NIS) database from January 2005 to September 2015. Trends in prevalence of HIV in AF patients, length and cost of hospital stay, and inpatient mortality, were determined. t-Test was used for continuous variables and Chi-square test for categorical variables. Final multivariable logistic regression models were constructed to determine predictors of outcomes. RESULTS: Among the 31,224 HIV-positive encounters, 78.6% were males. The median age was 56 years for HIV-positive patients and 78 years for HIV-negative patients. Black patients were markedly overrepresented among HIV-positive as compared to HIV-negative hospitalisations (48.6 vs. 7.6%). The prevalence of alcohol and drug use, smoking, chronic kidney disease, chronic liver disease, and cancer was higher among HIV-positive as compared to HIV-negative patients. The prevalence of HIV among the AF hospitalisations increased from 2005 to 2015. As compared to HIV-negative patients, individuals with HIV demonstrated increased inpatient mortality (9.2 vs. 5.1%), longer length of stay (6 [3-11] vs. 4 [2-7] days), and increased cost of treatment ($12,464 vs. $8606). CONCLUSION: The prevalence of HIV among patients with AF increased between 2005 and 2015. As compared to HIV-negative individuals with AF, a diagnosis of HIV was associated with increased inpatient mortality, length of stay, and cost of care. Future research on the underlying mechanisms of these findings is warranted to inform the treatment of AF in patients with HIV.

Streptococcus mitis Abscesses Mimicking Liver Metastases.

Streptococcus mitis (S. mitis) is a commensal bacterial species that commonly colonizes the oropharynx and gastrointestinal tract. It is seldom reported as a human pathogen. However, immunocompromised individuals may be at risk of infection. We describe a 62-year-old male with prostate cancer who presented with multiple S. mitis abscesses masquerading as metastases. In addition, we discuss the differential diagnosis and treatment options for this rare opportunistic infection.

Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1.

BACKGROUND AND OBJECTIVES: The genetic cause of medullary cystic kidney disease type 1 was recently identified as a cytosine insertion in the variable number of tandem repeat region of MUC1 encoding mucoprotein-1 (MUC1), a protein that is present in skin, breast, and lung tissue, the gastrointestinal tract, and the distal tubules of the kidney. The purpose of this investigation was to analyze the clinical characteristics of families and individuals with this mutation. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Families with autosomal dominant interstitial kidney disease were referred for genetic analysis over a 14-year period. Families without UMOD or REN mutations prospectively underwent genotyping for the presence of the MUC1 mutation. Clinical characteristics were retrospectively evaluated in individuals with the MUC1 mutation and historically affected individuals (persons who were both related to genetically affected individuals in such a way that ensured that they could be genetically affected and had a history of CKD stage IV or kidney failure resulting in death, dialysis, or transplantation). RESULTS: Twenty-four families were identified with the MUC1 mutation. Of 186 family members undergoing MUC1 mutational analysis, the mutation was identified in 95 individuals, 91 individuals did not have the mutation, and111 individuals were identified as historically affected. Individuals with the MUC1 mutation suffered from chronic kidney failure with a widely variable age of onset of end stage kidney disease ranging from 16 to >80 years. Urinalyses revealed minimal protein and no blood. Ultrasounds of 35 individuals showed no medullary cysts. There were no clinical manifestations of the MUC1 mutation detected in the breasts, skin, respiratory system, or gastrointestinal tract. CONCLUSION: MUC1 mutation results in progressive chronic kidney failure with a bland urinary sediment. The age of onset of end stage kidney disease is highly variable, suggesting that gene-gene or gene-environment interactions contribute to phenotypic variability.