REAHs and REAH-Like Lesions: Underdiagnosed lesions Often Misconfused with Nasal Polyps

REAH is the eponym for respiratory epithelial adenomatoid hamartoma. The disease is under diagnosed. It is clearly a disease in the olfactory cleft. It is characterized by a polypoid process located in the olfactory cleft which does not evolve in inverted papilloma or malignancy set at 10–15 cm. The lesion can be isolated in one or both olfactory cleft. It can be asymptomatic or can cause nasal obstruction and impairment of smell. More commonly the lesions, often multiple, are associated to the recurrence of the nasal polyposis. They can contribute to the development of loss of smell, nasal obstruction or even the blockage of the frontal recesses. The definitive diagnostic is based upon the histologic examination. Surgery is the treatment. In case of isolated lesion, complete excision without complete ethmoidectomy is the option. In case of lesions embedded in a recurrent massive polyposis, a complete exenteration of the olfactory clefts associated to a revision of full house ethmoidectomy and even a Draf III must be considered

Elevated carbohydrate antigen 19-9 following Helicobacter suis gastritis and nor- malisation after eradication: first case report and review of the literature

Carbohydrate antigen 19-9 (CA 19-9) is a biological marker used to diagnose and monitor the progression of various cancers. Elevated CA 19-9 has also been sporadically observed in Helicobacter pylori infected patients. Similar to H. pylori, animal-hosted non-H. pylori Helicobacter (NHPH) species can induce gastroduodenal lesions in humans. We report the first case of CA 19-9 elevation related to H. suis gastritis and its normalisation after eradication. A CA 19-9 screening prescribed as part of a regular check up by the general practitioner was found elevated in a 68-year-old man presenting chronic dyspeptic symptoms. Medical investigations were negative for presence of neoplasia or biliary obstruction. Upper gastrointestinal endoscopy confirmed the presence of chronic gastritis and H. suis was identified in gastric biopsies. The standard treatment for H. pylori successfully eradicated H. suis with normalisation of CA 19-9 levels. In addition to H. pylori, infection with NHPH species should be considered as an additional cause of elevated CA19-9. (Acta gastroenterol. belg., 2022, 85, 403-405)

Elevated carbohydrate antigen 19-9 following Helicobacter suis gastritis and normalisation after eradication: first case report and review of the literature.

Carbohydrate antigen 19-9 (CA 19-9) is a biological marker used to diagnose and monitor the progression of various cancers. Elevated CA 19-9 has also been sporadically observed in Helicobacter pylori infected patients. Similar to H. pylori, animalhosted non-H. pylori Helicobacter (NHPH) species can induce gastroduodenal lesions in humans. We report the first case of CA 19-9 elevation related to H. suis gastritis and its normalisation after eradication. A CA 19-9 screening prescribed as part of a regular check up by the general practitioner was found elevated in a 68-year-old man presenting chronic dyspeptic symptoms. Medical investigations were negative for presence of neoplasia or biliary obstruction. Upper gastrointestinal endoscopy confirmed the presence of chronic gastritis and H. suis was identified in gastric biopsies. The standard treatment for H. pylori successfully eradicated H. suis with normalisation of CA 19-9 levels. In addition to H. pylori, infection with NHPH species should be considered as an additional cause of elevated CA19-9

Child to adulthood clinical description of MDPL syndrome due to a novel variant in POLD1.

Mandibular hypoplasia, Deafness, Progeroid features, and Lipodystrophy (MDPL) syndrome is a rare autosomal dominant disorder caused by mutations in POLD1 gene and characterized by mandibular hypoplasia, deafness, progeroid features and lipodystrophy. One recurrent mutation p.(Ser605del) was reported in almost all affected patients. We report a novel de novo c.3214A>C p.(Thr1072Pro) variant in POLD1 in a 28-year-old male with MDPL syndrome. We provide a clinical description, molecular/immunohistological results, and literature review