Coinheritance of hereditary spherocytosis with haemochromatosis: next-generation sequencing reveals.

We report the case of a man in his 50s with extravascular haemolysis, fluctuating indirect hyperbilirubinaemia, elevated transferrin saturation with hyperferritinaemia and normal liver enzymes. Spherocytes were detected in a blood smear and a mutation of unknown significance, c.1626+1G>A p.?, in intron 13 of the SLC4A1 gene, was identified by next-generation sequencing (NGS). The same mutation was found in his daughter, who presented with similar laboratory changes, confirming the diagnosis of hereditary spherocytosis. Abdominal MRI showed hepatosplenomegaly with hepatic iron overload. In this context of haemolysis (without anaemia) and iron overload, a diagnosis of haemochromatosis was presumed. NGS confirmed the presence of the variants p.(His63Asp) and p.(Cys282Tyr) in heterozygosity in the HFE gene. We report this case for the rarity of co-existing two haematological diseases counteracting each other.

Fulminant Haemolysis Following Endoscopic Retrograde Cholangiopancreatography.

We report the case of a 77-year-old-man with a history of type 2 diabetes mellitus who underwent endoscopic retrograde cholangiopancreatography (ERCP) because of a gallstone in the common bile duct. Thirty-six hours after the procedure, the patient developed persistent fever and epigastric pain associated with de novo jaundice. Massive haemolysis (with exuberant spherocytosis) occurred and patient died in 3 hours. Clostridium perfringens was isolated in the blood cultures. Massive haemolysis associated with C. perfringens has a high mortality rate. Management involves a high index of suspicion after gastrointestinal procedures like ERCP, surgical consultation, antibiotic therapy, transfusion of red cell concentrates and, potentially, hyperbaric oxygen therapy. LEARNING POINTS: Endoscopic retrograde cholangiopancreatography (ERCP) can be complicated by Clostridium perfringens bacteraemia with devastating consequences.C. perfringens infection should be suspected in an icteric, febrile patient with abdominal pain, especially if intravascular haemolysis is present.Management of intravascular haemolysis and inflammation in a patient following ERCP should be multidisciplinary, involving surgery when needed and potentially hyperbaric oxygen therapy; penicillin or penicillin-derived antibiotics associated with clindamycin or metronidazole are the mainstays of antibiotic therapy.

Detection of Fusobacterium spp in colorectal tissue samples using reverse transcription polymerase chain reaction with minor groove binder probes: an exploratory research.

An unhealthy microbiome is intimately correlated with several disease states, including colorectal cancer, wherein bacteria might be the key to neoplastic initiation and progression. Recent studies revealed an enrichment of Fusobacterium in colorectal tumor tissues relative to surrounding normal mucosa. Given the available evidence, we conducted an exploratory study quantifying the relative expression of Fusobacterium spp in 28 tissue samples from patients treated at Centro Hospitalar de São João belonging to 4 different groups: adenomas, paired normal tissue from patients with adenomas, carcinomas, and paired normal tissue from patients with colorectal carcinomas. To increase reverse transcription polymerase chain reaction quantification sensitivity, minor groove binders fluorescent probes were used, having in mind its implementation into routine clinical practice. Differences of Fusobacterium spp relative abundance between paired neoplastic lesions/normal tissue were examined by Wilcoxon signed-rank test and for all the other 2-group comparisons the Mann-Whitney U test was used. Most of the adenomas studied belonged to clinical specimens showing either tubular or villous low-grade dysplasia and an enrichment of Fusobacterium relative to paired normal tissue was not found (P = .180). In the carcinoma group, 57% of samples displayed a positive status for this bacterium with the highest burden of detectable Fusobacterium belonging to a specimen with positive regional lymph node metastasis. This is the first Portuguese study confirming a trend toward an overabundance of Fusobacterium in colorectal carcinomas compared to adenomas and paired samples of normal-looking mucosa, in keeping with the role of this bacterium in colorectal carcinogenesis. Further studies are needed to elucidate the relevance of Fusobacterium detection for the prevention and treatment of colorectal cancer.

Elizabethkingia meningoseptica and Contact Lens Use.

A 47-year-old man presented to our emergency department complaining of acute ocular pain and redness of his left eye. Ophthalmological antecedents included use of semi-rigid contact lens and primary open-angle glaucoma. Slit-lamp examination revealed a small central corneal ulcer associated with stromal inflammatory infiltrate. Scraping from the corneal ulcer was positive for Elizabethkingia meningoseptica. He was empirically treated with topical 0.5% levofloxacin and 0.3% gentamicin, and five weeks later the infection had resolved. In this case report we describe the uncommon association between contact lens and Elizabethkingia meningoseptica. Despite possible serious complications associated with this atypical agent, prompt diagnosis and adequate treatment lead to good visual prognosis.

Doente de 47 anos, sexo masculino, recorreu ao serviço de urgência por início súbito de dor ocular e hiperemia conjuntival no olho esquerdo. Os antecedentes oftalmológicos incluíam o uso de lente de contacto semi-rígida e glaucoma primário de ângulo aberto. O exame na lâmpada de fenda revelou uma pequena úlcera de córnea central associada a infiltrado inflamatório estromal. A zaragatoa da base da úlcera de córnea permitiu a identificação de colónias de Elizabethkingia meningoseptica. O doente foi empiricamente tratado com levofloxacina colírio 0,5% e pomada de gentamicina 0,3%, tendo a infecção resolvido após cinco semanas. Neste caso clínico, descrevemos a associação incomum entre lentes de contacto e Elizabethkingia meningoseptica. Apesar das possíveis complicações graves relacionadas com este agente etiopatogénico, o diagnóstico rápido e tratamento adequado permitiram um bom prognóstico visual.