No abstract

Plummer–Vinson syndrome (PVS), a rare clinical condition, is characterized by a triad of dysphagia, iron deficiency anemia and esophageal web in the post-cricoid region. It was first described over a century ago. However, literature on this condition remains scanty, and its prevalence appears to be declining worldwide, possibly due to improvements in nutrition over time. The condition has been reported most commonly in thin-built, middle-aged, white women. The esophageal webs in PVS are thin mucosal folds, which are best seen either in lateral views at barium swallow or at esophagoscopy. These are usually semilunar or crescentic, being located most often along the anterior esophageal wall, but can be concentric. The exact cause and pathogenesis of PVS remain unclear, though iron and other nutritional deficiencies, genetic predisposition and autoimmunity have all been implicated in formation of the webs. Treatment includes correction of iron deficiency and endoscopic dilation of the esophageal webs to relieve dysphagia. PVS is associated with an increased risk of hypopharyngeal and esophageal malignancies. Correction of iron deficiency may arrest and reverse the mucosal changes and possibly reduces this risk.

Post-cricoid web is an uncommon cause for dysphagia and is most frequently reported in middle-aged women. Triad of web, iron deficiency anemia (IDA), and dysphagia is known as Plummer-Vinson syndrome (PVS). Literature on PVS is very limited. Here we report the first prospective study of PVS with predefined diagnostic criteria and management plan. Adults with dysphagia or those incidentally found to have esophageal web were prospectively enrolled between July 2011 and June 2013. Participants were evaluated with hemogram, barium swallow, and esophagogastroduodenoscopy. PVS was diagnosed if a person had IDA and a post-cricoid web in barium swallow and/or endoscopy. Patients were managed with dilation using through-the-scope controlled radial expansion balloon followed by oral iron and folic acid supplementation. Thirty-seven patients (age, median [range] 40 [19-65] years; 32 [86%] women) were enrolled. Thirty-one symptomatic patients had dysphagia grade 1 (n = 12, 39%), 2 (n = 13, 42%), and 3 (n = 6, 19%) for a median (range) duration of 24 (4-324) months. Barium swallow, done in 29, showed web in 25 which were either circumferential or anterior in position. Twenty-nine (29/31, 94%) patients had complete and two had partial response after the first session of endoscopic dilatation without any complication. Dysphagia recurred in three (10%) of the 30 patients who were followed for a median (range) of 10 (1-24) months. Esophageal-web related dysphagia in patients with PVS responds favorably after single session of endoscopic dilation.

Upper lip sinus formations are rare developmental events, and the pathogenesis of these lesions still needs further evaluation.

No abstract

Genetic polymorphisms in the methylene tetrahydrofolate reductase (MTHFR) gene have been associated with the development of acute leukemias and various malignancies. The role of MTHFR polymorphism in the development of pediatric acute lymphoblastic leukemia (ALL) has been extensively studied among north Indians in various settings, yet its association with acute leukemias remains unresolved. To evaluate the relationship between functional MTHFR polymorphisms, C677T and A1298C and possible effect on risk of ALL in adults and children in North Indian population by comparing them with healthy controls. DNA was isolated from peripheral blood of 184 ALL patients (33 adults, 151 children) and 155 controls and analyzed by a PCR-restriction fragment length polymorphism assay. The frequency of MTHFR 677CT and 1298 AC genotypes were significantly lower among adult ALL cases when compared to the controls. We found a 1.74-fold reduced risk of ALL in individuals with 1298AC polymorphic variant and a 9.17-fold decreased risk of adult ALL. However, no statistically significant difference was evident between the above polymorphisms and susceptibility to ALL in children. Polymorphisms in the MTHFR gene possibly modulate risk of ALL in north Indian adults but not in children, although larger studies are needed.

A 9 year old male presented with diffuse swelling on his tongue since childhood associated with intermittent bleeding. On examination there was multiple, sessile, firm, pinkish, erythematous, shiny papules on both dorsal and ventral surface of the tongue. Angiokeratomas are vascular malformations of capillaries characterized clinically by asymptomatic, solitary or multiple, keratotic papules or plaques, and histologically by benign vascular ectasia of the papillary dermis. Treatment usually consists of local excision and intralesional injection of steroids.

Newborn hearing screening is an effective strategy for early identification of hearing loss in the newborn which result in early intervention and best outcome. However implementing universal screening strategy is a challenge in many resource constrained settings. There are various limitations towards successful implementation of hearing screening program in the developing countries. The cost effectiveness of the screening program also needs to be considered in a resource constrained settings. We attempt to provide a viewpoint that can be potentially helpful for the successful implementation of hearing screening in a resource constrained settings of the developing countries.