Utility of Cryohemolysis Test in the Diagnosis of Hereditary Spherocytosis.

Diagnosis of Hereditary spherocytosis (HS) often requires time-consuming and/or expensive tests. Cryohemolysis test (CHT) is a simple and easy to perform test with high predictive value for HS diagnosis. In this prospective study, we evaluated the diagnostic utility of CHT for the diagnosis of HS. We included 60 suspected HS patients, 18 patients with Autoimmune hemolytic anemia (AIHA) and 120 healthy controls. Among the 60 suspected cases, there were 36 HS cases and 24 with other hemolytic anemias. The mean CHT (%) ± SD for controls, AIHA, other hemolytic anemias, and HS was 6.63 ± 2.79, 6.79 ± 4.36, 6.61 ± 2.76 and 26.7 ± 8.9, respectively. The CHT % was significantly higher in HS group when compared to controls (p = < 0.0001), AIHA (p = < 0.0001) and other hemolytic anemia groups (p = < 0.0001). At a CHT cut off of > 18.3%, the sensitivity, specificity, positive predictive value and negative predictive value for diagnosis of HS in our study were 97.1%, 94.4%, 97.2% and 90.3%, respectively. CHT is a simple and sensitive test for the diagnosis of HS but remains underutilized. The addition of CHT in the diagnostic workup of HS will be very useful, especially in a resource limited setting.

An Enigmatic Case of Jaundice and Photosensitivity in an Adolescent.

Erythropoietic protoporphyria (EPP) presents with nonblistering photosensitivity. Hepatobiliary manifestations are seen in around 5% cases and include cholelithiasis, elevations in liver enzymes, progressive jaundice, and end-stage liver disease. The diagnosis is suspected based on clinical features and elevated erythrocyte metal-free protoporphyrin and confirmed by genetic analysis showing loss-of-function mutations in the ferrochelatase (FECH) gene. We present an adolescent boy who presented with jaundice and photosensitivity with the liver biopsy showing deposition of brown pigments within the canaliculi and hepatocytes. This pigment showed Maltese cross birefringence on polarizing microscopy and Medusa-head appearance on electron microscopy. Genetic analysis revealed loss-of-function mutations in FECH. Introduction of EPP is an inborn error of heme biosynthesis caused by mutations in FECH with a prevalence of 1:75,000 to 1:200,000. We present a case of a 16-year-old adolescent boy with photosensitivity, abdominal pain, and jaundice with protoporphyrin deposition in the liver who was ultimately diagnosed with EPP based on genetic analysis.

Congenital Malignant Rhabdoid Tumor of Neck.

Malignant rhabdoid tumors (MRT) are uncommon, highly aggressive tumors arising usually from the central nervous system and kidneys. Nonrenal and noncentral nervous systems MRT are rare in neonates. To the best of our knowledge, only five cases of congenital MRT of neck have been described till date. We present a rare case of congenital MRT of the neck in a neonate along with review of literature.

The "Make Surgical Pathology Easy" project: learning Pathology through tailored digital infographics - the case for renovation of an old teaching method.

The term 'infographics' is a blend of the two words "information" and "graphics". Infographics can be described as 'information visualizations', conceived as visual translation of data including text, numbers, graphs, charts, drawings and so on. Visual representations are a fundamental part of scientific communication. They match the need to organize different pieces of information in a coherent and synthetic structure and constitute one of the most effective methods scientists rely on to divulge their findings. In particular, infographics provide an overview of key points regarding specific topics in a form that promotes quick learning and knowledge retention. They can be presented in printed or digital formats, being the latter particularly suitable for a global-scale diffusion via social media or websites.In recent years, many pathologists have started developing digital infographics as a strategy for providing free educational contents on Facebook, Twitter or websites. In the present review, we focus on the value of digital infographics to summarize various aspects of Surgical and General Pathology. They shed light on diagnostic criteria, differentials and predictive/prognostic markers for many diseases, being a useful learning tool both for residents and practicing pathologists. In this paper, the model of infographics ideation, processing and sharing to an online audience is described and the impact of infographics on knowledge processes in Pathology is investigated.