Jejunal arteriovenous malformation and multiple acquired extrahepatic portosystemic shunts in a juvenile dog, presenting with melena.

A juvenile dog referred with a 1-month history of persistent melena and severe anaemia, was diagnosed with a jejunal arteriovenous malformation, and multiple acquired extrahepatic portosystemic shunts. A midline coeliotomy was performed, the jejunal arteriovenous malformation was localised intraoperatively and was successfully removed via an enterectomy. Histopathology confirmed a true arteriovenous malformation. Despite the initial improvement, the patient developed seizure episodes secondary to hepatic encephalopathy 8 months after surgery. Fifteen months after surgery, the owner opted for euthanasia due to the ongoing seizure episodes. Post-mortem histologic examination of the liver showed features consistent with portal vein hypoplasia. A congenital arteriovenous malformation should be considered as a differential diagnosis in juvenile patients with a chronic history of haemorrhage from the gastrointestinal tract. In addition, acquired portosystemic shunts may occur in patients with portal vein hypoplasia and jejunal arteriovenous malformations.

Gastrointestinal bleeding with severe mucosal involvement in a patient with generalized pustular psoriasis without IL36RN mutation.

Generalized pustular psoriasis (GPP) is a systemic inflammatory disease that presents with erythema and sterile pustules, pathologically characterized by Kogoj's spongiform pustules. GPP is sometimes accompanied by mucosal involvement, and the most common lesion is on the tongue. IL36RN mutation was found to contribute to the pathogenesis of GPP especially in patients who develop GPP without a past medical history of psoriasis vulgaris. The association of IL36RN mutation with mucosal involvement in GPP is controversial. We herein report a 60-year-old male GPP patient with no past history of plaque psoriasis presenting with not only severe skin lesions and arthritis but also severe mucosal involvements of pharyngeal and gastrointestinal lesions, which led to gastrointestinal bleeding. Our case did not have any mutation in the IL36RN gene. We should be aware that severe GPP can cause gastrointestinal bleeding. The relevancy of IL36RN mutation with mucosal involvement in GPP remains to be elucidated.

Severe Chikungunya infection in Northern Mozambique: a case report.

BACKGROUND: Although Chikungunya virus has rapidly expanded to several countries in sub-Saharan Africa, little attention has been paid to its control and management. Until recently, Chikungunya has been regarded as a benign and self-limiting disease. In this report we describe the first case of severe Chikungunya disease in an adult patient in Pemba, Mozambique. CASE PRESENTATION: A previously healthy 40 year old male of Makonde ethnicity with no known past medical history and resident in Pemba for the past 11 years presented with a severe febrile illness. Despite administration of broad spectrum intravenous antibiotics the patient rapidly deteriorated and became comatose while developing anaemia, thrombocytopenia and later, melaena. Laboratory testing revealed IgM antibodies against Chikungunya virus. Malaria tests were consistently negative. CONCLUSIONS: This report suggests that Chikungunya might cause unsuspected severe disease in febrile patients in Mozambique and provides insights for the improvement of national protocols for management of febrile patients in Mozambique. We recommend that clinicians should consider Chikungunya in the differential diagnosis of febrile illness in locations where Aedes aegypti mosquitos are abundant.

Multiple gastrointestinal metastases of Merkel cell carcinoma.

Merkel cell carcinoma is an aggressive skin malignancy. Primary Merkel cell carcinomas are treated by wide radical excision with or without adjuvant radiotherapy, while benefits of adjuvant chemotherapy remain doubtful. There are only several cases of gastrointestinal metastases of Merkel cell carcinoma reported so far. We report a case of recurrent Merkel cell carcinoma with metastases to the stomach and the small intestines after wide excision of primary Merkel cell carcinoma.

Synchronous Type 1 Papillary Renal Cell Carcinoma in a Patient with Rectal Adenocarcinoma.

Synchronous colorectal cancer (CRC) and renal cell carcinoma (RCC) is relatively rare, particularly when the synchronous RCC is of papillary subtype, which is exceedingly rare. We report a case of a 63-year-old Caucasian man with synchronous CRC and type 1 papillary RCC. After the patient presented with three episodes of melena, colonoscopy followed by biopsy confirmed rectal adenocarcinoma. The computed tomographic imaging also showed an incidental mass of the upper pole of the left kidney suspicious for RCC. Once chemoradiation therapy was successfully completed, an ultra low anterior resection and partial nephrectomy were performed concurrently. Histological examination showed colorectal adenocarcinoma (ypT1 N0 Mx) and papillary RCC type I (pT1a Nx Mx). Although the exact pathogenesis of synchronous CRC and RCC is unknown, it has been suggested that almost all patients with this entity do not have Lynch syndrome. The majority of these patients usually present with CRC-related symptoms and then, during workup, are subsequently found to have an incidental renal mass that is most often diagnosed as clear cell subtype of RCC. To the best of our knowledge, this is only the second reported case of synchronous CRC and type 1 papillary RCC.

The relation of presenting symptoms with staging, grading, and postoperative 3-year mortality in patients with stage I-III non-metastatic colon cancer.

BACKGROUND/AIMS: To evaluate the association of presenting symptoms with staging, grading, and postoperative 3-year mortality in patients with colon cancer. MATERIALS AND METHODS: A total of 132 patients-with a mean (standard deviation; SD) age of 63.0 (10.0) years and of whom 56.0% were males-with non-metastatic stage I-III colon cancer were included. Symptoms prior to diagnosis were evaluated with respect to tumor localization, tumor node metastasis (TNM) stage, histological grade, and postoperative 3-year mortality. RESULTS: Constipation and abdominal pain were the two most common symptoms appearing first (29.5% and 16.7%, respectively) and remained most predominant (25.0% and 20.0%, respectively) up to diagnosis. The frequency of admission symptoms significantly differed with respect to tumor location, TNM stage and histological grade. The postoperative 3-year survival rate was 61.4%. Multivariate logistic regression revealed that melena and rectal bleeding increased the likelihood of 3-year mortality by 13.6-fold (p=0.001) and 4.08-fold (p=0.011), respectively. CONCLUSION: Our findings revealed differences in presenting symptom profiles with respect to the time of manifestation and predominance as well as to the TNM stage, histological grade, and tumor location. Given that melena and rectal bleeding increased the 3-year mortality risk by 13.6-fold and 4.08-fold, respectively, our findings indicate the association of admission symptoms with outcome among patients with colon cancer.

Intussusception in gestational choriocarcinoma (not histologically proven), resolving spontaneously with chemotherapy.

We present a rare case of advanced gestational choriocarcinoma with small bowel metastatic involvement and intussusception, which presented acutely as a lower gastrointestinal bleed with symptomatic anaemia and haemoglobin 3.8 g/dL in a young woman. A diagnosis of gestational choriocarcinoma was made without biopsy, using a combination of clinical history, isolated elevated human chorionic gonadotropin markers of 77,000 IU/mL and radiological findings. Surgical intervention was too high risk due to the presence of active bleeding and increased vascularity surrounding the intussusception. Owing to the highly responsive nature of gestational choriocarcinoma to chemotherapy, frontline chemotherapy alone was used to reduce the size of the metastatic small bowel deposits, with subsequent resolution of the bleeding and intussusception. This is the first time chemotherapy alone has been used to successfully resolve small bowel intussusception secondary to metastatic choriocarcinoma that has been documented according to PubMed searches.

Severe Hypertriglyceridemia due to a novel p.Q240H mutation in the Lipoprotein Lipase gene.

BACKGROUND: Lipoprotein Lipase (LPL) deficiency is a rare autosomal recessive disorder with a heterogeneous clinical presentation. Several mutations in the LPL gene have been identified to cause decreased activity of the enzyme. FINDINGS: An 11-week-old, exclusively breastfed male presented with coffee-ground emesis, melena, xanthomas, lipemia retinalis and chylomicronemia. Genomic DNA analysis identified lipoprotein lipase deficiency due to compound heterozygosity including a novel p.Q240H mutation in exon 5 of the lipoprotein lipase (LPL) gene. His severe hypertriglyceridemia, including xanthomas, resolved with dietary long-chain fat restriction. CONCLUSIONS: We describe a novel mutation of the LPL gene causing severe hypertriglyceridemia and report the response to treatment. A review of the current literature regarding LPL deficiency syndrome reveals a few potential new therapies under investigation.

The changing face of the 'royal disease'--medicolegal aspects of haemophilia.

Haemophilia represents a group of heritable disorders caused by deficiencies in plasma proteins that are involved in coagulation. The case of a two-year-old boy with an established diagnosis of haemophilia B is reported to demonstrate a rare cause of unexpected death. He had a recent history of epistaxis and was found unexpectedly dead. At autopsy the posterior pharynx was obstructed by blood clot with aspirated blood within the distal airways of the lungs, and melena throughout both small and large intestines. His death was due to haemorrhage and airway obstruction complicating epistaxis. The profile of individuals with haemophilia has been changing in recent years with less deaths from haemorrhage due to improved clinical management. As the life expectancy of these patients is increasing, forensic examiners will now have to consider not only possible haemorrhagic causes of death but will also have to determine the significance of more long standing infectious processes related to human immunodeficiency virus (HIV) and hepatitis C from contaminated transfusions, in addition to evaluating the role of the more usual diseases related to age.

Renal cell carcinoma presenting with Melena from direct invasion into the duodenum: a case report and a review of literature.

Today the classic triad of flank pain, hematuria and a palpable abdominal mass is rarely present at initial diagnosis of renal cell carcinoma due to the growing number of cases diagnosed incidentally on imaging studies. We report a case of a 58-year-old female who presented with melena where a subsequent esophagogastroduodenoscopy demonstrated a bleeding duodenal lesion. Pathologic study of a biopsy revealed Clear Cell RCC and an ensuing abdominal CT revealed the direct duodenal invasion of a primary renal mass. We also provide a brief review of nephrectomy in the face of metastatic renal cell carcinoma.

Mechanisms of deaths in captive juvenile New Zealand fur seals (Arctocephalus forsteri).

Juvenile seals are sometimes encountered in waters around South Australia with injuries and/or diseases that require veterinary treatment. Two cases are reported where apparently stable animals died soon after being rescued due to quite disparate conditions. In Case 1 a juvenile male New Zealand fur seal (Arctocephalus forsteri) was found unexpectedly dead in its enclosure. A necropsy examination revealed an emaciated juvenile male with no injuries. The intestine was filled throughout its length with melena stool that was due to heavy infestation of the stomach with roundworms with adjacent gastritis. Death was due to shock from upper gastrointestinal blood loss secondary to parasitosis. In Case 2 a second juvenile male New Zealand fur seal (Arctocephalus forsteri) also died unexpectedly in its enclosure. It had been listless with loud respirations since capture. At necropsy there was no blood around the head, neck or mouth, and no acute external injuries were identified. An area of induration was, however, present over the snout with fragmentation of underlying bones. The maxilla was freely mobile and CT scanning revealed multiple comminuted fractures of the adjacent facial skeleton. Examination of the defleshed skull showed fragmentation of the facial skeleton with roughening of bones in keeping with osteomyelitis. Death was attributed to sepsis from osteomyelitis of a comminuted midfacial fracture. These cases demonstrate two unusual and occult conditions that may be present in recently retrieved juvenile fur seals. Failure to establish the correct diagnosis rapidly may result in death soon after capture. The usefulness of imaging techniques such as CT scanning in delineating underlying injuries prior to necropsy is clearly demonstrated.