We report the case of a medically complex African American adult female with ornithine transcarbamylase (OTC) deficiency diagnosed after lifelong protein aversion and new onset of chronic vomiting and abdominal pain with intermittent lethargy and confusion. Symptomatology was crucial to diagnosis as genetic testing did not identify any pathogenic variants in OTC; however, the patient\'s diagnosis was delayed despite her having longstanding symptoms of a urea cycle disorder (UCD). Her symptoms improved after treatment with a modified protein-restricted diet, long-term nitrogen-scavenger therapy, and supplemental L-citrulline. Adherence to her UCD management regimen remained a challenge due to her underlying frailty and other medical conditions, which included primary renal impairment (further exasperated by type 2 diabetes mellitus) and decreased left-ventricular function. She passed away 3 years after her OTC deficiency diagnosis due to complications of congestive heart failure. Her OTC deficiency did not have a major impact on her final illness, and appropriate OTC deficiency management was provided until the decision was made to withdraw medical care.

In recent years, the combination of platinum-based chemotherapy and immune checkpoint inhibitors (ICIs) has become the standard treatment for patients with lung cancer. Hepatitis is one of the common toxicities following ICI/chemotherapy. When drug-induced hepatitis occurs, the suspected drug must be discontinued. Since it may be difficult to determine the exact drug causing the hepatitis, liver biopsy may help identify this. We report the case of a patient diagnosed with immune-related adverse event hepatitis from liver biopsy and clinical course. A 45-year-old man with lung adenocarcinoma (stage IV, cT4N3M1c) negative for driver gene mutation was treated with carboplatin (CBDCA), pemetrexed (PEM), and pembrolizumab. Elevated blood aspartate aminotransferase and alanine aminotransferase levels after chemotherapy indicated hepatitis induced by cytotoxic anticancer agents and ICIs. As autoimmune hepatitis was also suspected, liver biopsy was performed and the findings suggested ICI-induced hepatitis. Pembrolizumab was discontinued and CBDCA/PEM was resumed, following which, the primary lesion shrank. When drug-induced hepatitis is suspected, clinicians should actively perform liver biopsy to confirm the diagnosis, so that appropriate therapeutic regimen can be administered.

In recent years, the combination of platinum-based chemotherapy and immune checkpoint inhibitors (ICIs) has become the standard treatment for patients with lung cancer. Hepatitis is one of the common toxicities following ICI/chemotherapy. When drug-induced hepatitis occurs, the suspected drug must be discontinued. Since it may be difficult to determine the exact drug causing the hepatitis, liver biopsy may help identify this. We report the case of a patient diagnosed with immune-related adverse event hepatitis from liver biopsy and clinical course. A 45-year-old man with lung adenocarcinoma (stage IV, cT4N3M1c) negative for driver gene mutation was treated with carboplatin (CBDCA), pemetrexed (PEM), and pembrolizumab. Elevated blood aspartate aminotransferase and alanine aminotransferase levels after chemotherapy indicated hepatitis induced by cytotoxic anticancer agents and ICIs. As autoimmune hepatitis was also suspected, liver biopsy was performed and the findings suggested ICI-induced hepatitis. Pembrolizumab was discontinued and CBDCA/PEM was resumed, following which, the primary lesion shrank. When drug-induced hepatitis is suspected, clinicians should actively perform liver biopsy to confirm the diagnosis, so that appropriate therapeutic regimen can be administered.

Close follow-up of patients with liver cirrhosis has led to increased detection of hepatocellular carcinoma (HCC) at an early stage, especially with magnetic resonance imaging (MRI) innovations. We report the case of a 70-year-old man, with a recent history of liver cirrhosis due to chronic hepatitis C virus (HCV) complicated by hepatocellular carcinoma (HCC), and for whom trans-arterial chemoembolization (TACE) was planned, as the patient was assigned Child B7 at admission. Angiography performed during the first TACE cycle shows not only the \"tumor blush\" corresponding to previously detected HCC but also an additional small foci of HCC uptake seen within a large dysplastic nodule giving the appearance of \"nodule-within-nodule.\" Early detection of hepatocellular carcinoma improves prognosis. Hence, it is essential to be aware of all early aspects of HCC, including the nodule-within-nodule appearance on cross-sectional imaging, and also in angiography, as in this case.

Hepatic arterial vasospasm can be a potential vascular complication after liver transplantation and can manifest as hepatic artery thrombosis. Due to the scarcity of literature on this pathology, its incidence, mechanism, relevance, diagnosis, and prognosis remain to be investigated. Our index case, a 64-year-old man with decompensated alcohol-related cirrhosis, underwent a cadaveric orthotopic liver transplant and was having a normal postoperative course. On postoperative day 12, liver enzymes were elevated, and Doppler ultrasound performed showed hepatic arterial occlusion. In view of hepatic artery thrombosis digital subtraction angiography (DSA) was done, which showed a string bead appearance of graft hepatic artery, with no thrombosis or stenosis of hepatic artery anastomosis. It was managed by oral administration of vasodilator, as well as intra-arterial administration of vasodilators through DSA catheter tip placed in the hepatic artery. He responded well to the management and was discharged on postoperative day 24 with normal liver enzymes.

Immune thrombocytopenic purpura (ITP) can be acquired or secondary to other drugs, infections, or autoimmune disorders. Legionella is a known intracellular organism that causes Legionnaire\'s disease and affects the lungs. Presented is the first case showing a direct association between Legionella and ITP. Our patient was a 61-year-old female with a past medical history of asthma whose clinical presentation was consistent with pneumonia secondary to Legionella. Her hospital course was complicated by critical bleeding with severe thrombocytopenia. She responded to antibiotics, steroids, and intravenous immunoglobulins (IVIG). Our case suggests an association between ITP and Legionella and emphasizes its timely diagnosis for appropriate treatment.

BACKGROUND: Sphincter of Oddi dysfunction is a rare disease caused by sphincter of Oddi functional or mechanical abnormality. Misdiagnosis of familial Mediterranean fever is very high due to overlapping symptoms with many diseases. Our case is the first case report in the medical literature which describes the misdiagnosis of Sphincter of Oddi dysfunction as familial Mediterranean fever.
METHODS: A 46-year-old woman presented with recurrent episodes of abdominal pain and arthralgia. The patient had familial Mediterranean fever for ten years which was diagnosed clinically without performing genetic tests. Analysis of the mutation in the MEFV gene was performed and was negative. Thereby, the diagnosis of familial Mediterranean fever was eliminated and colchisine was discontinued. Afterward, laboratory and radiological tests were performed, and the diagnosis of sphincter of Oddi disfunction was confirmed. The patient underwent biliary sphincterotomy and take sulpiride daily.
CONCLUSIONS: The most common diseases were misdiagnosed with familial Mediterranean fever are appendicitis, acute rheumatic fever, gastrointestinal diseases and inflammatory arthritis. Endoscopic retrograde cholangiopancreatography with Manometry of the Sphincter of Oddi is the gold-standard test.
CONCLUSIONS: Sphincter of Oddi dysfunction may interfere with many other disorders and should be considered as a differential diagnosis for any recurrent abdominal pain. Misdiagnosis of familial Mediterranean fever is common in endemic countries due to the reliance on clinical symptoms without analysis of the mutations in the MEFV genes particularly, before 1997.

UNASSIGNED: Cholangioscopy is useful in establishing a visual diagnosis of cholangiocarcinoma (CCA), but this is harder to achieve in primary sclerosing cholangitis (PSC) because of the stricture-forming nature of the disease. Furthermore, it can be harder to differentiate malignant from benign features of the underlying inflammation. This case series demonstrates the varied features of nonmalignant inflammatory findings in PSC.
UNASSIGNED: A single experienced endoscopist performed cholangioscopy for PSC cases referred for ERCP.
UNASSIGNED: Cholangioscopy in these 5 cases without CCA demonstrated the features of acute and chronic inflammation, acute inflammatory mass, dominant stricture, acute cholangitis in a duct with features of chronic inflammation with a large pigmented stone, and fibrostenotic disease. Cholangioscopic maneuvers such as advancement across strictures after balloon dilation, targeted mucosal biopsy, and electrohydraulic lithotripsy (EHL) of impacted stones are demonstrated. The relevant radiographic and histopathologic features of the disease accompany each case description. Regarding long-term prognosis, 1 case of acute inflammatory mass and a case of worsening liver function required a liver transplant evaluation, whereas the other 3 cases remain stable.
UNASSIGNED: Cholangioscopic features of benign disease in PSC are varied. Knowledge of these features is essential in differentiating between benign and malignant findings. These features, combined with biopsy and cytology evaluation, can help in tailoring management in patients with benign PSC.

The Mediterranean (MED) diet was associated with a reduced risk of chronic disease, but the epidemiological studies reported inconsistent findings related to the MED diet and non-alcoholic fatty liver disease (NAFLD) risk. This age and the gender-matched case-control study were conducted among 247 adult patients. The MED diet score was obtained based on the Trichopoulou model. Multivariate logistic regression was used to examine the association between the MED diet and NAFLD risk. NAFLD prevalence in people with low, moderate and high adherence to the MED diet was 33, 13⋅1 and 4⋅6 %, respectively. The increasing intake of the MED diet was significantly related to the increment intake of nuts and fruits, vegetables, monounsaturated fatty acid/polyunsaturated fatty acid ratio, legumes, cereals and fish. However, total energy consumption, low-fat dairy and meats intake were reduced (P for all < 0⋅05). Following control for age, the person in the highest of the MED diet tertile compared with the lowest, the odds of NAFLD decreased (OR: 0⋅40, 95 % CI: 0⋅17-0⋅95). This relation became a little stronger after further adjusting for sex, diabetes, physical activity and supplement intake (OR: 0⋅36, 95 % CI: 0⋅15-0⋅89). However, this association disappeared after adjusting for body mass index, waist and hip circumference (OR: 0⋅70, 95 % CI: 0⋅25-1⋅97). High adherence to the MED diet was associated with a 64 % reduction in NAFLD odds before some anthropometric variable adjustments. However, further prospective studies are required, particularly in BMI-stratified models.

BACKGROUND: One of the relatively rare hemostatic disorders is coagulation factors\' deficiency, where a single factor or multiple factors can be deficient. All hereditary coagulation factors\' deficiencies are autosomal recessive, so they can manifest in both genders, but Hemophilia A and B are X-linked disorders. Therefore, females can rarely be affected. This paper reports the first case of simultaneous coagulation factors\' deficiencies of FVIII and FXI in a female.
METHODS: A 17-year-old female came to the office due to prolonged epistaxis, with a history of severe menstrual bleeding and frequent episodes of epistaxis. In her familial history, a brother complained of epistaxis episodes. Bleeding time and prothrombin time were normal but activated partial thromboplastin time was increased. Von Willebrand disease was excluded, and she was diagnosed with hemophilia A and C.
CONCLUSIONS: Females can be affected with X-linked disorders such as hemophilia A and B in some rare cases: a carrier mother and affected father, skewed X chromosome inactivation, Turner syndrome, inhibiting antibodies (acquired hemophilia), or a sporadic mutation on the most activated X chromosome. On the other hand, Hemophilia C is an autosomal recessive disease. Treatment of such cases is a challenge, and the recombinant coagulation factors are the treat-of-choice.
CONCLUSIONS: Although Von Willebrand disease is the most common hereditary bleeding disorder in females, other rare diseases could be suspected such as Hemophilia. X-linked Hemophilia should be kept in mind as a differential diagnosis in any female patient suffering from hemorrhage.