Prenatal diagnosis of cerebro‐oculo‐facio‐skeletal syndrome: Report of three fetuses and review of the literature

Cerebro‐oculo‐facio‐skeletal syndrome (COFS) is a rare autosomal recessive neurodegenerative disease belonging to the family of DNA repair disorders, characterized by microcephaly, congenital cataracts, facial dysmorphism and arthrogryposis. Here, we describe the detailed morphological and microscopic phenotype of three fetuses from two families harboring ERCC5/XPG likely pathogenic variants, and review the five previously reported fetal cases. In addition to the classical features of COFS, the fetuses display thymus hyperplasia, splenomegaly and increased hematopoiesis. Microencephaly is present in the three fetuses with delayed development of the gyri, but normal microscopic anatomy at the supratentorial level. Microscopic anomalies reminiscent of pontocerebellar hypoplasia are present at the infratentorial level. In conclusion, COFS syndrome should be considered in fetuses when intrauterine growth retardation is associated with microcephaly, arthrogryposis and ocular anomalies. Further studies are needed to better understand XPG functions during human development.     

A rare case of echo enhancing agent anaphylaxis complicated by acute coronary syndrome

Enhancing agents in echocardiography are used frequently to improve endocardial border visualization and assessment of structural heart disease. We present a unique case of anaphylactic shock with acute coronary syndrome following administration of sulfur hexafluoride echo enhancing agent. This case emphasizes the importance of recognizing anaphylaxis to enhancing agents, as well as recognizing the potential relationship between anaphylaxis and acute coronary syndrome with in-stent thrombosis.     

The prolyl isomerase Pin1 acts as a novel molecular switch for TNF-alpha-induced priming of the NADPH oxidase in human neutrophils

Neutrophils play a key role in host defense by releasing reactive oxygen species (ROS). However, excessive ROS production by neutrophil nicotinamide adenine dinucleotide phosphate (NADPH) oxidase can damage bystander tissues, thereby contributing to inflammatory diseases. Tumor necrosis factor-α (TNF-α), a major mediator of inflammation, does not activate NADPH oxidase but induces a state of hyperresponsiveness to subsequent stimuli, an action known as priming. The molecular mechanisms by which TNF-α primes the NADPH oxidase are unknown. Here we show that Pin1, a unique cis-trans prolyl isomerase, is a previously unrecognized regulator of TNF-α-induced NADPH oxidase hyperactivation. We first showed that Pin1 is expressed in neutrophil cytosol and that its activity is markedly enhanced by TNF-α. Inhibition of Pin1 activity with juglone or with a specific peptide inhibitor abrogated TNF-α-induced priming of neutrophil ROS production induced by N-formyl-methionyl-leucyl-phenylalanine peptide (fMLF). TNF-α enhanced fMLF-induced Pin1 and p47phox translocation to the membranes and juglone inhibited this process. Pin1 binds to p47phox via phosphorylated Ser345, thereby inducing conformational changes that facilitate p47phox phosphorylation on other sites by protein kinase C. These findings indicate that Pin1 is critical for TNF-α-induced priming of NADPH oxidase and for excessive ROS production. Pin1 inhibition could potentially represent a novel anti-inflammatory strategy.     

Variceal Band Ligation in the Prevention of Variceal Bleeding: A Multicenter Trial

Background/Aim:

Variceal bleeding is a life-threatening complication of portal hypertension with a high probability of recurrence. Treatment to prevent first bleeding or rebleeding is mandatory. The study has been aimed at investigating the effectiveness of endoscopic band ligation in preventing upper gastrointestinal bleeding in patients with portal hypertension and to establish the clinical outcome of patients.

Patients and Methods:

We analyzed in a multicenter trial, the efficacy and side effects of endoscopic band ligation for the primary and secondary prophylaxis of esophageal variceal bleeding. We assigned 603 patients with portal hypertension who were hospitalized to receive treatment with endoscopic ligation. Sessions of ligation were repeated every two to three weeks until the varices were eradicated. The primary end point was recurrent bleeding.

Results:

The median follow-up period was 32 months. A total of 126 patients had recurrent bleeding. All episodes were related to portal hypertension and 79 to recurrent variceal bleeding. There were major complications in 51 patients (30 had bleeding esophageal ulcers). Seventy-eight patients died, 26 deaths were related to variceal bleeding and 1 to bleeding esophageal ulcers.

Conclusions:

A great improvement in the prevention of variceal bleeding has emerged over the last years. However, further therapeutic options that combine higher efficacy, better tolerance and fewer side effects are needed.     

Alexithymia impact on type 1 and type 2 diabetes: A case-control study

Objectives

This paper focus on studying the prevalence of alexithymia in diabetes type 1 and type 2 and its impact on diabetes's clinical and therapeutic characteristics. We also studied the relationship between alexithymia and emotional disorders in diabetics.

Materials and methods

The study involved a sample of 125 diabetic patients, among whom 50 had type 1 and 75 had type 2 diabetes mellitus compared with respectively 70 and 52 control subjects matched for age and sex. Alexithymia was assessed using the Toronto Alexithymia Scale, while emotional disorders were evaluated using the Hospital Anxiety and Depression Scale.

Results

Type 1 diabetics were more alexithymic than controls while type 2 diabetics had higher cognitive component score than control subjects. Alexithymic type 1 diabetics had a higher average of fasting blood sugar than non-alexithymic patients did (P = 0.021). Moreover, with type 1 diabetes, erectile dysfunction was associated with difficulties in identifying feelings (P = 0.012). We found that the presence of depression was a predictor of alexithymia in type 1 diabetes (β = 1.78, P = 0.04) and the presence of psychiatric history was indicative of the presence of alexithymia in type 2 diabetes (β = 2.09, P = 0.042).

Conclusion

Given the impact of alexithymia on diabetes types 1 and 2, the detection and treatment of alexithymic subjects are important for a better prognosis of diabetic disease.     

Cavitary lung opacity of unusual cause during Behçet disease

Pulmonary artery aneurysm must be evoked in front of any hemoptysis in a patient with Behçet disease as it requires urgent immunosuppressive therapy and often surgery.