A rare case of abetalipoproteinemia

The disease studiedhere abetalipoproteinemia (ABL) is a very rare autosomal recessive disorder which is caused by microsomal triglyceride alteration in protein gene mutation. ABL is defined by a lack of lipids and apolipoprotein B in the plasma, as well as fat malabsorption and a variety of clinical symptoms. We report a 21-year-old male with a history of persistent diarrhea, steatorrhea, and growth retardation who was born to consanguineous parents. The patient was diagnosed with ABL and was treated with dietary changes and fat-soluble vitamin replacement, as well as being monitored on an outpatient basis.

Comparative Analysis of Leucocyte Count (Total and Differential) in Patients with Leucocytosis using Sysmex XN550-L Series (5 Part) Automated Analyzer and Conventional Manual Technique in a Tertiary Care Hospital in Rural Haryana

Normal concentration of WBCs in blood varies between 4000 and 11,000 per microliter and are classified intotwo variants namely granulocytes and agranulocytes on the basis of presence and absence of granules.Manual methods of calculation of TLC include- Neubauer chamber and estimating WBC on leishman stainedslides whereas automated methods are based on impedance or light scattering technology. The study comparedthe efficacy of both these methods in statistical terms using Chi Square test. 100 cases of leucocytosisanalyzed over a period of 1 year at MMIMSR, Mullana, Haryana revealed leucocytosis prevalent in 4-6 decadeof life with slight male predominance. The pearson coefficient for TLC came out to be p value =0.215 (notsignificant) but for DLC, calculations revealed p values for polymorphs, lymphocytes, eosinophils andmonocytes to be significant (p value =0.000 each). To conclude, standard manual methods should be advocatedas special practice where there is definite need of morphological and quantitative evaluation of WBCs and tovalidate the automated methods by which the laboratories can optimize patient care and not as a replacement

Risk Factors for Obesity and Overweight in Goa, India: A community based Case-Control Study

Introduction: Obesity is a chronic disease, which is knownto affect all the age groups and is prevalent in both developedand developing countries. Environmental factors like affluentlife style, high energy diet, sedentary life style, discardingold family traditions with regards to eating, exercise, outdooractivity, the couch potato culture and others have led to obesity. Furthermore, obesity is also a key risk factor in the naturalhistory of other non-communicable diseases (NCDs).Material and methods: A Community based case controlStudy was conducted in an urban community in Goa, India.106 cases group matched to 106 controls constituted thestudy sample. Cases included Obese or overweight individualwithin the age group of 30-60 years. Cases were selectedduring household survey while controls were taken in theneighbourhood of the cases. A structured questionnaire wasused to get information on general demographics, personalhabits which included diet, smoking, drinking of alcohol.Physical activity was assessed using the WHO Global PhysicalActivity Questionnaire (GPAQ).Examination and laboratory investigations were conducted.The study was approved by the Institutional Ethics Committee.Informed written consent was obtained from all the studyparticipants. The data was analysed using SPSS softwarepackage version 22.0. Odds ratio, chi square test, t test andmultiple logistic regressions were used to analyse the data.Results: Low Physical activity, less sleep duration, mixed dietas opposed to vegetarian diet, non-vegetarian serving 2 to 4times a week, calorie intake in excess of recommended intake,low fruit consumption were found to be the significant riskfactors both in univariate and multiple logistic regression.Conclusion: Considering the rising prevalence of obesityand the consequent complications, there is an urgent needto address these risk factors through health education, riskreduction interventions and other innovative strategies.

Understanding policy dilemmas around antibiotic use in food animals & offering potential solutions

The looming concern of antimicrobial resistance (AMR) has prompted the government of many countries of the world to act upon and come up with the guidelines, comprehensive recommendations and policies concerning prudent use of antibiotics and containment of AMR. However, such initiatives from countries with high incidence of antibiotic-resistant bacteria in food animals are still in infancy. This review highlights the existing global policies on antibiotics use in food animals along with details of the various Indian policies and guidelines. In India, in spite of availability of integrated policies for livestock, poultry and aquaculture sector, uniform regulations with coordinated initiative are needed to formulate strict policies regarding antimicrobial use both in humans and animals. In an attempt to create effective framework to tackle the AMR, the Indian Council of Medical Research initiated a series of dialogues with various stakeholders and suggested various action points for urgent implementation. This review summarizes the recommendations made during the various consultations. The overarching aim of this review is to clearly delineate the action points which need to be carried out urgently to regulate the antibiotic use in animals.

An Anatomical Study of Superficial Palmar Arch.

Background: The study of superficial palmar arch and its variations has been reported rarely. The purpose of the study is to provide assessment of anatomical variations in the formation of superficial palmar arch in hand. A classic superficial palmar arch is formed by direct communication between the superficial branch of the ulnar artery and superficial branch of radial artery. Materials and Methods: Twenty dissected upper limb specimens, out of which 16 males and 4 females aged between 18 – 75years were obtained from Department of Anatomy, Bangalore Medical College and Research Institute, Bangalore. The vascular pattern of superficial palmar arch was recorded. Results and Discussion: The complete and incomplete formation of the superficial palmar arch was found in 19 and 1 hands respectively. This indicates that the incidences of complete and incomplete formation of superficial palmar arch are 95% and 5% respectively. Conclusion: The findings suggest that the incomplete formation of superficial palmar arch will lead to ischemia or poor nourishment of intrinsic muscles of the hand.

Morphology of Ulnar Nerve In Axilla & Arm & Its Variations.

The ulnar nerve arises from the medial cord (C8, T1);medial cord also receives fibres from the ventral ramus of C7. Lesions of the ulnar nerve occur behind the medial epicondyle & in the cubital tunnel. When muscles are affected due to ulnar nerve dysfunction, there is ulnar neuropathy at the shoulder, arm & elbow. The study was done on 50 embalmed human cadavers (25 right & 25 left) of both sexes of South Indian adult population obtained from the Department of Anatomy, Bangalore Medical College and Research Institute, Bangalore. Variations in the ulnar nerve in its presence, origin, relations, distribution & communications were observed. Ulnar nerve was present in all 50 upper limb specimens (100%). Ulnar nerve originated from the medial cord of the brachial plexus in 49 cases (98%). In 1 case (2%), the ulnar nerve received C7 fibers from lateral cord i.e. the lateral root of the median nerve and then later fused with the median root of the median nerve. In 49 specimens (98%) ulnar nerve took origin from the tip of the acromion processes. In 1 case (2%) it took origin from distal to the tip of the acromion process. 49 specimens (98%) showed the normal course, i.e. medial to axillary & brachial artery. 1 case (2%) showed ulnar nerve present anterior to the third part of the axillary artery and brachial artery. In the midarm it passed medially as a normal course, then runs distally through the cubital tunnel. The awareness of these variations along the normal pattern are helpful for the interventional radiologists, orthopaedicians and neurologists in preventing untoward iatrogenic injury to the ulnar nerve during radiological procedures or operating on fractured patients or diagnostic therapy.

Leukemic phase of anaplastic lymphoma kinase positive, anaplastic large cell lymphoma.

Anaplastic large cell lymphoma (ALCL) is a distinct type of CD30+ T/null-cell non-Hodgkin's lymphoma that frequently involves nodal and extranodal sites. The presence of leukemic phase in ALCL is extremely rare and occurs exclusively with ALK1-positive ALCL. We describe two patients with ALK1-positive ALCL who developed a leukemic phase with rapid progression of the disease. Immunophenotypic pattern assessed on peripheral blood by flow cytometry revealed CD45, CD30, and CD25 positivity in both cases but NPM-ALK1 was expressed in only one case. Both patients developed leukemic phase as a terminal event of the disease and we share the immunophenotypic features of both cases.

Ectodermal dysplasia-skin fragility syndrome.

Ectodermal dysplasia-skin fragility (EDSF) syndrome is a rare and first described inherited disorder of desmosomes. It occurs due to loss-of-function mutations in PKP1 gene resulting in poorly formed desmosomes and loss of desmosomal and epidermal integrity. We report a case of a 2-year-old Indian male child who presented with palmoplantar hyperkeratosis with fissuring, short, sparse, and easily pluckable scalp hair, nail dystrophy, and multiple erosions over the skin. Skin biopsy showed epidermal hyperplasia with widening of intercellular spaces. His developmental milestones were delayed but intelligence was normal. Echocardiography, X-ray chest, and electrocardiogram were normal. Very few cases of this syndrome have been reported in the literature. We consider this as the first case report from India.

Subtelomeric rearrangements in idiopathic mental retardation.

OBJECTIVE: To estimate the frequency of subtelomeric rearrangements in patients with sporadic and non-syndromic idiopathic mental retardation (IMR). METHODS: A total of 18 IMR patients were taken for the study. Selection criteria included no known syndromes or chromosomes abnormalities and known causes of IMR. All patients signed an informed consent to participate. Chromosome analysis was carried out on all patients to rule out gross chromosome abnormalities. Lymphocyte cultures were initiated and harvested using standard protocols. For fluorescence in situ hybridization (FISH), Chromoprobe Multiprobe-T system was used. This system consists of 24 embossed areas with each area having one reversibly bound subtelomere probe for a specific chromosome. The subtelomere probes were differentially labeled with green fluorescence for short arm and orange for the long arm. Hybridization, washing and staining are done using standard protocols. A minimum of 5 metaphases were analyzed per chromosome per patient. RESULTS: A total of 2 subtelomeric rearrangements were detected (11.1%). Case 1 involved a 17-year-old with severe MR, profound deafness and dysmorphic features with reciprocal translocation t(3;7)(q26.2; p15.1). The second case involved a 4.6-year-old with mild developmental delay and a terminal deletion of the long arm of chromosome 2, del(2) (q37.3). The frequency of abnormalities detected in our study is in agreement with published reports. CONCLUSION: Subtelomeric screening with FISH is a useful tool for investigation of IMR, however, it is not cost effective in all cases. Conventional chromosome analysis coupled with targeted FISH testing might be the optimal strategy for investigation of IMR.

Biliary and serum immunoglobulin alterations in patients of cholelithiasis.

IgG, IgA and IgM were estimated in serum, common bile duct bile and gall bladder bile by single radial immunodiffusion technique in 30 patients of cholelithiasis, which included 22 patients of cholelithiasis with non functioning gall bladder (sub group A) and 8 patients of cholelithiasis with functioning gall bladder (sub group B). 30 age and sex matched controls were also included in the study. Serum IgG, IgA and IgM were significantly raised in patients of cholelithiasis as compared to controls. However, in gall bladder bile although IgA and IgM were significantly lower (more so in sub group A) than that of control group (p < 0.001 and p < 0.001 respectively but there was no change in IgG. While in common bile duct bile, rise in all the three immunoglobulins was statistically insignificant when compared to controls.

Rational use of aztreonam

Aztreonam, a beta-lactam antibiotic is effective against a number of micro-organisms including resistant strains of N. gonorrhoea, H. Influenzae and P. aeruginosa. Though a potent and useful drug in the modern physicians armamentarium it must not be used empirically; should be prescribed on the recommendations of microbiologists report. Irrational use would not only lead to the development of resistance but may lead to superinfection; one should also remember a 7 day treatment costs around pound 214 in the U.K.! It must, therefore, never be used empirically, and for trivial infections. For the simple reason 'when you can use the fly-flapper why use the sledgehammer

Topical minoxidil for baldness

Topical application of minoxidil lotion has been widely promoted as an agent for the treatment of all kinds of baldness. Neither the Ministry of Health, Government of Bahrain nor the National Health Services [NHS] of the United Kingdom allows it to be made available to the patients on the prescriptions of the government appointed doctors. This decision to exclude it from the list of approved drugs available on NHS or similar government sponsored health care programme is based on its questionable efficacy, unproven safety and its enormous cost. Local availability in Bahrain only reflects the drug regulatory policy which allows the rich the freedom to use a drug which may rarely help, often lighten their purse and enrich, at least their urine