Ectopia lentis in Loeys‐Dietz syndrome type 4

Loeys‐Dietz syndrome is a heritable disorder of the connective tissue leading to multisystem involvement including craniofacial features, skeletal abnormalities, cutaneous findings and early‐onset and aggressive disease of the aorta and its branches. There are multiple types of Loeys‐Dietz syndrome related to pathogenic variants in TGFBR1, TGFBR2, SMAD3, TGFB2, and TGFB3. Individuals with Loeys‐Dietz syndrome may be misdiagnosed as having Marfan syndrome due to shared phenotypic features and aortic root dilation. However, ectopia lentis has been an important discriminating feature, being unique to Marfan syndrome and not reported to be associated with Loeys‐Dietz syndrome. We report the case of a 46‐year‐old woman with Loeys‐Dietz syndrome type 4 due to a pathogenic variant in TGFB2 who was diagnosed with ectopia lentis at age 44. The patient underwent whole exome sequencing and no other pathogenic variants were found to explain the ectopia lentis. Our findings indicate that ectopia lentis may be an uncommon finding in Loeys‐Dietz syndrome type 4 and emphasize the importance of genetic testing in familial thoracic aortic aneurysm disease.     

Tuberculous otitis media-are we missing it ?

Tuberculosis of the middle ear it a rare disease. Due to change in the typical clinical pattern and decrease in incidence, there is a delayed or missed diagnosis and can lead to increased morbidity. We pretent 5 cases of Tuberculous Otitis Media treated over a period of 2 years, highlighting the fact that it must be considered as a differential diagnosis of persistent suppurative otitis media.     

A framework for web based geographical information systems for country wide antimicrobial resistance monitoring

Drug resistance—arising from the misuse and overuse of antimicrobial agents—is becoming a major concern as new strains of resistant microorganisms are emerging and fewer new antimicrobial drugs are in development. This paper presents an idea of implementing a Real Time Web Based Information System to monitor changes in the antibiotic sensitivity of microorganisms, located at different areas and time periods based on data collected from accredited laboratories. This pattern can be mapped over geographical map of the area and can be interpreted by clinicians/policy makers. The authors demonstrate the use of such information system using cross sectional data obtained from a nasopharyngeal swab survey of 151 children affected with HIV. Such system can aid physicians to improve the choice of antibiotic to be administered using real time data.     

A case report of an unusual presentation of ocular rhinosporidiosis as a conjunctival cystic mass

Ocular involvement of rhinosporidiosis is seen in about 15% of cases and clinically appears as a freely mobile, granular, pink, fleshy sessile or pedunculated mass. The conjunctiva is the most common site of origin. A 25-year-old male presented with a painless mass in the lower part of the left eye for 6 months which was gradually progressive. Examination revealed a pedunculated mass of 15 mm x 15 mm arising from the lower palpebrae of the left eye retracting the lower lid. It appeared to be vascular with few white spots at the apex. Rest of the ocular examinations was within the normal limit. The presentations of ocular rhinosporidiosis vary. Though the conjunctival origin is very common, it may not have a classic pink fleshy appearance at all times. A vascular/cystic painless conjunctival mass should also be considered as a case of rhinosporidiosis in prone areas.     

EAACI guidelines on allergen immunotherapy: Prevention of allergy

Allergic diseases are common and frequently coexist. Allergen immunotherapy (AIT) is a disease‐modifying treatment for IgE‐mediated allergic disease with effects beyond cessation of AIT that may include important preventive effects. The European Academy of Allergy and Clinical Immunology (EAACI) has developed a clinical practice guideline to provide evidence‐based recommendations for AIT for the prevention of (i) development of allergic comorbidities in those with established allergic diseases, (ii) development of first allergic condition, and (iii) allergic sensitization. This guideline has been developed using the Appraisal of Guidelines for Research & Evaluation (AGREE II) framework, which involved a multidisciplinary expert working group, a systematic review of the underpinning evidence, and external peer‐review of draft recommendations. Our key recommendation is that a 3‐year course of subcutaneous or sublingual AIT can be recommended for children and adolescents with moderate‐to‐severe allergic rhinitis (AR) triggered by grass/birch pollen allergy to prevent asthma for up to 2 years post‐AIT in addition to its sustained effect on AR symptoms and medication. Some trial data even suggest a preventive effect on asthma symptoms and medication more than 2 years post‐AIT. We need more evidence concerning AIT for prevention in individuals with AR triggered by house dust mites or other allergens and for the prevention of allergic sensitization, the first allergic disease, or for the prevention of allergic comorbidities in those with other allergic conditions. Evidence for the preventive potential of AIT as disease‐modifying treatment exists but there is an urgent need for more high‐quality clinical trials.     

Comparative study of pulsatile and nonpulsatile flow during cardio-pulmonary bypass

The use of nonpulsatile flow during extracorporeal circulation remains popular despite theoretical advantages of pulsatile cardiopulmonary bypass (CPB). Pulsatile CPB is considered to be more physiological than nonpulsatile flow as the pulsatile energy ensures the patency of the vascular bed and mechanical motion of tissue fluid around the cell membrane, improves microcirculation and enhances diffusion. The purpose of this study was to compare the effect of pulsatile and nonpulsatile flow on the coagulation profile, liver and kidney function and also on the haemodynamics in patients undergoing coronary artery bypass grafting on CPB. One hundred patients between 35 and 65 years of age with normal left ventricular function were randomly divided into two equal groups: Pulsatile (P) and nonpulsatile (NP). Haematological parameters, clotting profile, renal parameters, hepatic function tests and haemodynamic variables were measured preoperatively and postoperatively at specific intervals. Surgical, anaesthetic and CPB regimen was standard in all cases. There was a decrease in platelet count during and after CPB in both groups. Coagulation profile and renal function parameters remained similar in both groups except that creatinine clearance was better in group P on the first postoperative day. Urine output was also better in group P. There was no change in liver function tests in both groups. The haemodynamic variables were comparable in both groups. The systemic vascular resistance was higher in group NP postoperatively and oxygen consumption was higher in group P post CPB. In conclusion we did not find any significant difference between pulsatile and nonpulsatile flow during CPB except the creatinine clearance and urine output were better in pulsatile group.