Carvajal Syndrome- A Variant of Naxos Disease: A Case Report.

Carvajal syndrome is a rare variant of Naxos disease, a recessive mutation of the desmoplakin gene characterized by presence of woolly hair, palmoplantar keratoderma and dilated cardiomyopathy, mainly left ventricular involvement. The main clinical complication is progressive heart disease which may lead to heart failure and sudden cardiac death in childhood and adolescence. Cardiomyopathy is diagnosed by Task Force Criteria. The goal of treatment is to prevent sudden cardiac death by lifestyle modification and regular clinical monitoring with pharmacotherapy. We report a nine years female who had skin and hair abnormality and was admitted with features of heart failure. She was clinically diagnosed as Carvajal syndrome, an under-recognized cardio cutaneous manifestation in children. Clinicians should be aware, if any child present with keratoderma of palm and soles with woolly hair since birth should evaluate for cardiomyopathy. Genetic tests should be done whenever available, for confirming the diagnosis and counseling.

A Five Years Old Child with Failure To Thrive and Vomiting Presenting as a Diagnostic Dilemma: A Case Report.

Vomiting with failure to thrive in older children is a diagnostic challenge due to the diversity in the diagnosis. We report a case of a five-years-old girl with failure to thrive, history of recurrent vomiting and intermittent colicky pain abdomen since 45 days of life. Intestinal malrotation with Ladd's band was diagnosed based on clinical acumen, high- resolution computed tomography, barium follow through and intraoperative findings. Exploratory laparotomy with Ladd's procedure was performed under general anesthesia which showed malrotation at the duodenojejunal junction with a short route of mesentery with floating caecum with Ladd's band. Failure to thrive with malrotation of the gut in the older age group is rare in itself. As there are very few cases reported in this age group, so we undertook to report this case to increase the awareness of knowledge concerning the diagnosis and timely management to prevent the comorbidity of this condition.

Distinct Microbiota Dysbiosis in Patients with Non-Erosive Reflux Disease and Esophageal Adenocarcinoma.

Non-erosive reflux disease (NERD) and esophageal adenocarcinoma (EAC) are often regarded as bookends in the gastroesophageal reflux disease spectrum. However, there is limited clinical evidence to support this disease paradigm while the underlying mechanisms of disease progression remain unclear. In this study, we used 16S rRNA sequencing and mass-spectrometer-based proteomics to characterize the esophageal microbiota and host mucosa proteome, respectively. A total of 70 participants from four patient groups (NERD, reflux esophagitis, Barrett's esophagus, and EAC) and a control group were analyzed. Our results showed a unique NERD microbiota composition, distinct to control and other groups. We speculate that an increase in sulfate-reducing Proteobacteria and Bacteroidetes along with hydrogen producer Dorea are associated with a mechanistic role in visceral hypersensitivity. We also observed a distinct EAC microbiota consisting of a high abundance of lactic acid-producing bacteria (Staphylococcus, Lactobacillus, Bifidobacterium, and Streptococcus), which may contribute towards carcinogenesis through dysregulated lactate metabolism. This study suggests the close relationship between esophageal mucosal microbiota and the appearance of pathologies of this organ.