Lysinuric Protein Intolerance Presenting with Recurrent Hyperammonemic Encephalopathy.

Background: Lysinuric protein intolerance is an inherited disorder of transport of cationic amino acids, causing amino aciduria. Case characteristics: A 3-year-old boy with 12 month history of episodic change in behavior (decreased sleep, poor interaction), stunted growth and hyperammonemia. Outcome: Genetic analysis revealed a homozygous mutation, c.158C>T (p.Ser53Leu) in exon 1 of SLC7A7 gene.With appropriate management of hyperammonemia episodes, his neurodevelopmental outcome is normal. Message: Lysinusic protein intolerance is a potentially treatable disorder and should not to be missed.

Study of incidence of tuberculosis in fine needle aspiration cytology of cervical lymph node: a city based study.

Tuberculous cervical lymphadenitis is commonly encountered in clinical practice. Fine Needle Aspiration Cytology (FNAC) being a simple out-patient diagnostic procedure is well accepted by patients and has practically no complications. Methods: The present study involved 80 patients of cervical lymphadenopathy, who attended the pathology department of the L N medical college and JK hospital, Bhopal from June 2013 to May 2014. After a detailed history and clinical examination, fine needle aspiration cytology of involved nodes was performed in all these patients. Results: Out of 80 cases 32 (40%) cases were of tubercular lymphadenitis, 24 (30%) cases were of reactive hyperplasia of lymph node, 12 (15%) cases were of metastatic deposit of squamous cell carcinoma of lymph node, 10 (12.5)cases were of non-specific lymphadenitis, one case (1.25) was of acute on chronic lymphadenitis and one (1.25) case was of non-Hodgkin’s lymphoma, so out of 80 cases maximum number of cases (32) were of tuberculous lymph node. Conclusion: FNAC has emerged as a first-line diagnostic technique in tuberculosis lymph node. In cervical lymphadenopathy tuberculosis remains a common cause.

Tumor of follicular infundibulum: An unsuspected cause of macular hypopigmentation.

We present three cases of a rare eruptive variant of tumor of follicular infundibulum. Two patients presented with hypopigmented macules. The clinical differential diagnoses considered in these two cases were vitiligo, lichen sclerosus et atrophicus, and idiopathic guttate hypomelanosis. In the third case, the lesions were hypopigmented fl at topped maculo-papules diagnosed clinically as verruca plana. In all three cases, the histopathological features of plate like growth of pale keratinocytes connected to the epidermis and peritumoral condensation of elastic fi bers were diagnostic. Although no satisfactory treatment is available, the exclusion of other clinical differential diagnosis particularly vitiligo with its psychosocial implications underscores the importance of skin biopsy.

Protective effect of Lannea coromandelica Houtt. Merrill. against three common pathogens.

Background: Ayurvedic text reports suggested Lannea coromandelica is used in various microbial origin disorders like dysentery, sore eyes and leprosy, genital wounds. Objective: The present study was designed to investigate the antimicrobial effect of L. coromandelica Houtt. Merrill. (Anacardiaceae) on microbes which cause female reproductive tract infection. Materials and Methods: Ethanolic and aqueous bark extract (Ext.) of L. coromandelica were screened against strains of Streptococcus pyogens, Staphylococcus aureus, and Candida albicans. Antimicrobial assay had been done with agar well diffusion method. Results: Ethanolic extracts [100% (16 mg), 75% (12 mg) and 50% (8 mg)] of L. coromandelica exhibited zone of inhibition (ZI) 19.21 mm, 18.45 mm, 16.41 mm and 18.12 mm, 17.35 mm, 16.35 mm against S. aureus and S. pyogens, respectively. However, only 100% and 75% ethanolic extract showed (ZI-19.18 mm, 16.29 mm) activity against C. albicans. Nevertheless, aqueous extract (100%) showed higher antifungal activity (ZI-16.97 mm). Ciprofl oxacin and amphotericin B were used as a standard drugs in the present study. Conclusion: The results demonstrated that L. coromandelica Houtt. Merrill. have antibacterial activity against S. pyogens, S. aureus and antifungal property against C. albicans. Our fi ndings corroborate the ethnobotanical use of L. coromandelica in traditional medicine system (Ayurveda) of India.

Doing meta-analysis in research: A systematic approach.

Meta-analysis is an objective, systematic review that employs statistical methods to combine and summarize the results of several studies. It is a quantitative synthesis of all the unbiased evidence, meant for summarizing large volume of data, establishing and determining the magnitude of an effect, and to increase power and precision of studies. The steps to performing a meta-analysis include making a hypothesis and defining the domain of research, defining inclusion/exclusion criteria, literature search, selecting the final set of studies, extracting data on variables of interest, coding procedures, calculating effect sizes and interpretations, selecting potential moderators and examine their relationships, report writing, and critical evaluation. Meta-analysis has several strengths as well as weaknesses.

Film review: Medical students as guinea pigs.

Developing countries like India and Sri Lanka are trying to tackle the problem of “ragging”, the practice, in educational institutions, of senior students bullying new students. The problem is more noticeable in medical colleges in India where it has assumed serious dimensions with psychological, physical and sexual harassment. 404 Error not found is a film that tries to offer an insight into this menace and its impact on its victims.

Medical literature search dot com.

The Internet provides a quick access to a plethora of the medical literature, in the form of journals, databases, dictionaries, textbooks, indexes, and e-journals, thereby allowing access to more varied, individualized, and systematic educational opportunities. Web search engine is a tool designed to search for information on the World Wide Web, which may be in the form of web pages, images, information, and other types of files. Search engines for internet-based search of medical literature include Google, Google scholar, Yahoo search engine, etc., and databases include MEDLINE, PubMed, MEDLARS, etc. Commercial web resources (Medscape, MedConnect, MedicineNet) add to the list of resource databases providing some of their content for open access. Several web-libraries (Medical matrix, Emory libraries) have been developed as meta-sites, providing useful links to health resources globally. Availability of specific dermatology-related websites (DermIs, DermNet, and Genamics Jornalseek) is useful addition to the ever growing list of web-based resources. A researcher must keep in mind the strengths and limitations of a particular search engine/database while searching for a particular type of data. Knowledge about types of literature and levels of detail available, user interface, ease of access, reputable content, and period of time covered allow their optimal use and maximal utility in the field of medicine.

Griscelli syndrome.

An eight month old male infant presented with recurrent infections and partial albinism. Initially a possibility of Chediak Higashi syndrome (CHS) was considered, but a negative investigative work up prompted us to look for an alternate diagnosis. A literature search revealed that Griscelli syndrome (GS) has overlapping symptoms and signs. The findings in skin and hair biopsies in Griscelli syndrome are distinctive.

Infectious mononucleosis presenting as upper airway obstruction.

Upper airway obstruction though a common complication of infectious mononucleosis is rarely considered in differential diagnosis of stridor. We report a three-year-old child who had upper airway obstruction due to infectious mononucleosis, managed conservatively with oxygen, intravenous fluids and steroids.