Conservative Management With a Multimodal Approach of a 12-Week Cervical Ectopic Pregnancy With Fetal Megacystis.

Cervical ectopic pregnancy is the rarest kind of ectopic pregnancy, and it is known as the implantation of an embryo into the cervical mucosa. It is commonly associated with complications such as hemorrhage from the cervix and can lead to severe consequences if it is not treated early. For this reason, the treatment for a cervical pregnancy often requires an abdominal hysterectomy.

A new CECR1 mutation associated with severe hematological involvement in ADA2 deficiency.

Background: The deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessively inherited disease resulting from loss-of-function mutations in ADA2, formerly named CECR1 (cat eye syndrome chromosome region, candidate 1) gene. Disease manifestations could be separated into three major phenotypes: inflammatory/vascular, immune dysregulatory, and hematologic; however, most patients presented with significant overlap between these three phenotype groups.

Case Presentation: We present a case of DADA2 deficiency with disease onset at 3 years old, not recognized till the age of 18 with severe gastrointestinal vasculitis and recurrent episodes of neutropenia associated with a new CECR1 mutation.

Pancreatoduodenectomy for Malignant Solid Pseudopapillary Neoplasm in a Patient with Chronic Calcifying Pancreatitis, Rheumatoid Polyarthritis and Kidney Stones.

We present the case of a patient with rheumatoid polyarthritis treated in our department, with a long history of chronic calcifying pancreatitis which was incidentaly diagnosed during a renal colic with a pancreatic tumor. Pancreatoduodenectomy with lateral superior mesenteric vein resection was performed, the final pathological examination revealed a malignant solid pseudopapillary neoplasm with a positive lymph node. Clinical, surgical, pathological and a review of the literature are presented.

Loss of NDR1/2 kinases impairs endomembrane trafficking and autophagy leading to neurodegeneration.

Autophagy is essential for neuronal development and its deregulation contributes to neurodegenerative diseases. NDR1 and NDR2 are highly conserved kinases, implicated in neuronal development, mitochondrial health and autophagy, but how they affect mammalian brain development in vivo is not known. Using single and double knockout mouse models, we show that only dual loss of in neurons causes neurodegeneration.