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2016| January | Volume 143 | Issue 1
Online since
March 14, 2016
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ORIGINAL ARTICLES
Phage therapy of staphylococcal chronic osteomyelitis in experimental animal model
Chandan Kishor, Raghvendra Raman Mishra, Shyam K Saraf, Mohan Kumar, Arvind K Srivastav, Gopal Nath
January 2016, 143(1):87-94
DOI
:10.4103/0971-5916.178615
PMID
:26997019
Background & objectives:
Methicillin resistant
Staphylococcus aureus
(MRSA) are the commonest cause of osteomyelitis. The aim of this study was to evaluate the role of an alternative therapy
i.e
. application of
S. aureus
specific bacteriophages in cases of osteomyelitis caused by MRSA in animal model.
Methods:
Twenty two rabbits were included in this study. The first two rabbits were used to test the safety of phage cocktail while the remaining 20 rabbits were divided into three groups; group A (n=4) to assess the establishment of osteomyelitis; group B (n=4) osteomyelitis developed but therapy started only after six weeks; and group C (n=12) osteomyelitis developed and therapy started after three weeks. Groups B and C rabbits were treated with four doses of cocktail of seven virulent bacteriophages at the interval of 48 h. Comparison between three groups was made on the basis of observation of clinical, radiological, microbiological, and histopathological examinations.
Results:
Experimental group rabbits recovered from the illness in the subsequent two weeks of the therapy. Appetite and activity of the rabbits improved, local oedema, erythema and induration subsided. There were minimal changes associated with osteomyelitis in X-ray and histopathology also showed no signs of infection with new bone formation. Control B group rabbits also recovered well from the infection.
Interpretation & conclusions:
The present study shows a potential of phage therapy to treat difficult infections caused by multidrug resistant bacteria.
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STUDENT IJMR
Substance abuse amongst the medical graduate students in a developing country
A Arora, S Kannan, S Gowri, S Choudhary, S Sudarasanan, PP Khosla
January 2016, 143(1):101-103
DOI
:10.4103/0971-5916.178617
PMID
:26997021
Background & objectives:
Substance abuse is found worldwide including among students. We carried out this study to estimate the prevalence of substance abuse among medical student studying in a medical college in north India.
Methods:
Using a validated questionnaire a cross-sectional survey was conducted among 230 undergraduate and postgraduate medical students in a private medical college.
Results:
The prevalence of substance abuse was 20.43 per cent (47/230) among medical students. An increase in substance abuse was observed in the latter years of medical education. A total of 43 of 47 (91.7%) students using these substances were aware of the ill effects. The most common reasons for substance use were relief from psychological stress (34/47, 72.4%) and occasional celebration (34/47, 72.4%). Of the 47 substance users, 28 (59.6%) made past attempts to quit the substance abuse.
Interpretation & conclusions:
Nearly one-fifth of medical students abuse at least one substance despite knowing the ill effects with the main predisposing factor being the psychological stress.
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ORIGINAL ARTICLES
Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) for rapid diagnosis of neonatal sepsis
Anusha Rohit, Biswajit Maiti, Shalini Shenoy, Indrani Karunasagar
January 2016, 143(1):72-78
DOI
:10.4103/0971-5916.178613
PMID
:26997017
Background & objectives:
The difficulties in diagnosis of neonatal sepsis are due to varied clinical presentation, low sensitivity of blood culture which is considered the gold standard and empirical antibiotic usage affecting the outcome of results. Though polymerase chain reaction (PCR) based detection of bacterial 16S rRNA gene has been reported earlier, this does not provide identification of the causative agent. In this study, we used restriction fragment length polymorphism (RFLP) of amplified 16S rRNA gene to identify the organisms involved in neonatal sepsis and compared the findings with blood culture.
Methods:
Blood samples from 97 neonates were evaluated for diagnosis of neonatal sepsis using BacT/Alert (automated blood culture) and PCR-RFLP.
Results:
Bacterial DNA was detected by 16S rRNA gene PCR in 55 cases, while BacT/Alert culture was positive in 34 cases.
Staphylococcus aureus
was the most common organism detected with both methods.
Klebsiella
spp. was isolated from four samples by culture but was detected by PCR-RFLP in five cases while
Acinetobacter
spp. was isolated from one case but detected in eight cases by PCR-RFLP. The sensitivity of PCR was found to be 82.3 per cent with a negative predictive value of 85.7 per cent. Eighty of the 97 neonates had prior exposure to antibiotics.
Interpretation & conclusions:
The results of our study demonstrate that PCR-RFLP having a rapid turnaround time may be useful for the early diagnosis of culture negative neonatal sepsis.
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PERSPECTIVES
Sickle cell disease in India: A perspective
Graham R Serjeant, Kanjaksha Ghosh, Jyotish Patel
January 2016, 143(1):21-24
DOI
:10.4103/0971-5916.178582
PMID
:26997009
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ORIGINAL ARTICLES
Cross-neutralization between three mumps viruses & mapping of haemagglutinin-neuraminidase (HN) epitopes
Sunil R Vaidya, Garima M Dvivedi, Santoshkumar M Jadhav
January 2016, 143(1):37-42
DOI
:10.4103/0971-5916.178587
PMID
:26997012
Background & objectives:
The reports from the countries where mumps vaccine is given as routine immunization suggest differences in mumps virus neutralizing antibody titres when tested with vaccine and wild type viruses. Such reports are unavailable from countries like India where mumps vaccine is not included in routine immunization. We, therefore, undertook this study to understand the cross-neutralization activity of Indian mumps viruses.
Methods:
By using commercial mumps IgG enzyme immunoassay (EIA) and a rapid focus reduction neutralization test (FRNT), a panel of serum samples was tested. The panel consisted of 14 acute and 14 convalescent serum samples collected during a mumps outbreak and 18 archived serum samples. Two wild types (genotypes C and G) and Leningrad-Zagreb vaccine strain (genotype N) were used for the challenge experiments and FRNT titres were determined and further compared. The HN protein sequence of three mumps viruses was analyzed for the presence of key epitopes.
Results:
All serum samples effectively neutralized mumps virus wild types and a vaccine strain. However, significantly lower FRNT titres were noted to wild types than to vaccine strain (
P
<0.05). The comparison between EIA and FRNT results revealed 95.6 per cent agreement. No amino acid changes were seen in the epitopes in the Indian wild type strains. All potential N-linked glycosylation sites were observed in Indian strains.
Interpretation & conclusions:
Good cross-neutralization activity was observed for three mumps virus strains, however, higher level of FRNT titres was detected for mumps virus vaccine strain compared to Indian wild type isolates.
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Prevalence of human papillomavirus infection & cervical abnormalities in HIV-positive women in eastern India
Jaya Chakravarty, Ankita Chourasia, Minaxi Thakur, Abhishek Kumar Singh, Shyam Sundar, Nisha Rani Agrawal
January 2016, 143(1):79-86
DOI
:10.4103/0971-5916.178614
PMID
:26997018
Background & objectives:
India has the third highest burden of HIV and highest number of cervical cancer in the world. A cross-sectional study was performed to determine the prevalence and types of human papillomavirus (HPV) infection, and the factors associated with HPV infection and abnormal cervical cytology in HIV-positive women attending the Antiretroviral Therapy (ART) Centre in a tertiary care hospital in eastern India.
Methods:
We screened 216 HIV- positive women with Papanicolau smear cytology and HPV testing. HPV DNA was detected by using consensus primers followed by sequencing.
Results:
Of the 216 HIV-positive women screened, 58 (26.85%) were HPV-positive; 56 (25.9%) were of high-risk (HR) HPV type. The most prevalent HPV type was HPV-16 (7.9%); non 16 and 18 HPV types were present in 17.6 per cent patients. Age ≤ 35 yr [(OR), 2.56 (1.26-5.19)], illiteracy [OR, 2.30 (1.19-4.46)], rural residence [OR, 3.99 (1.27-12.56)] and CD4 ≤350/µl [OR, 2.46 (1.26-4.83)] were associated with increased risk of acquisition of HPV. One hundred thirty nine (74.33%) patients had normal/ negative for intraepithelial lesions (NILM) cytology, three (1.60%) had atypical squamous cells of undetermined significance (ASCUS), 32 (17.11%) had low-grade squamous intraepithelial lesions (LSIL), 10 (5.35%) had high-grade squamous intraepithelial lesions (HSIL) and three (1.60%) had carcinoma cervix. WHO clinical Stage III and IV [OR, 2.83 (1.07-7.49)] and CD4 ≤350/µl [OR, 2.84 (1.30-6.20)] were risk factors for abnormal cytology.
Interpretation &conclusions:
Our study showed 26.85 per cent HPV positivity in HIV infected women in this region, with HPV-16 as the commonest genotype. Abnormal cervical cytology was seen in about 25 per cent women. Regular Pap smear screening as recommended by the National AIDS Control Organization will help in early detection of cervical abnormalities in HIV- positive women.
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CORRESPONDENCES
Bayesian model, ecological factors & transmission of leprosy in an endemic area of South India
Vasna Joshua, S Mehendale, MD Gupte
January 2016, 143(1):104-106
DOI
:10.4103/0971-5916.178618
PMID
:26997022
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ORIGINAL ARTICLES
Profile of female patients seeking in-patient treatment for prescription opioid abuse from a tertiary care drug dependence treatment centre from India
Prabhoo Dayal, Yatan Pal Singh Balhara
January 2016, 143(1):95-100
DOI
:10.4103/0971-5916.178616
PMID
:26997020
Background & objectives:
There has been a limited focus on prescription drug abuse among women in the country. Choice of psychoactive substance, reasons for initiation and co-occurring disorders have been found to be different among men and women. The current study was aimed at studying the profile of female patients seeking in-patient treatment for prescription drug use over a period of five years at a tertiary care drug dependence treatment centre in India.
Methods:
Case records of all female patients admitted with substance use disorder at a national level drug dependence treatment centre in north India across five years (between January 2008 and December 2012) were reviewed retrospectively to study their socio-demographic and clinical profile. The information was gathered using a semi-structured proforma and detailed case records. Abstinence, relapse and retention rates were calculated.
Results:
Over the five years, 31 female patients were admitted with prescription drug abuse. Of them, 12 (39%) used prescription opioids and 11 (36%) used prescription opioid along with benzodiazepines. Commonest prescription opioid was pentazocine used by 87 per cent of the women. Twenty two (71%) women were introduced to opioid by medical practitioners and commonest reason for introduction was pain (among 48%). Common co-occurring psychiatric diagnoses were depressive disorder (26%), cluster B traits/disorder (19%) and somatoform disorder (13%). Eight women did not complete treatment and left against medical advice. Thirteen women were advised maintenance treatment, and 70 per cent of them were retained for at least six months.
Interpretation & conclusions:
Our findings revealed a link between mental illness, pain and non-medical use of prescription opioids among women. Majority of these women received opioids as a legitimate prescription form physician. Therefore, these legitimate prescribers should be trained for pain management to facilitate proper treatment of pain and to prevent the subsequent misuse of these medicines. Female patients with frequent pain complaints should be assessed for psychopathology while prescribing opioids.
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Preparation &
in vitro
evaluation of
90
Y-DOTA-rituximab
Mythili Kameswaran, Usha Pandey, Ashutosh Dash, Grace Samuel, Meera Venkatesh
January 2016, 143(1):57-65
DOI
:10.4103/0971-5916.178593
PMID
:26997015
Background & objectives:
Radioimmunotherapy is extensively being used for the treatment of non-Hodgkin's lymphoma (NHL). Use of rituximab, a chimeric anti-CD20 antibody directed against the CD20 antigen in combination with suitable beta emitters is expected to result in good treatment response by its cross-fire and bystander effects. The present work involves the conjugation of p-isothiocyanatobenzyl DOTA (p-SCN-Bn-DOTA) to rituximab, its radiolabelling with
[90]
Y and
in vitro
and
in vivo
evaluation to determine its potential as a radioimmunotherapeutic agent.
Methods:
Rituximab was conjugated with p-SCN-Bn-DOTA at 1:1 antibody: DOTA molar ratio. The number of DOTA molecules linked to one molecule of rituximab was determined by radioassay and spectroscopic assay. Radiolabelling of rituximab with
90
Y was carried out and its
in vitro
stability was evaluated.
In vitro
cell binding studies were carried out in Raji cells expressing CD20 antigen. Biodistribution studies were carried out in normal Swiss mice.
Results:
Using both radioassay and spectroscopic method, it was determined that about five molecules of DOTA were linked to rituximab. Radiolabelling of the rituximab conjugate with
[90]
Y and subsequent purification on PD-10 column gave a product with radiochemical purity (RCP) > 98 per cent which was retained at > 90 per cent up to 72 h when stored at 37°C.
In vitro
cell binding experiments of
90
Y-DOTA-rituximab with Raji cells exhibited specific binding of 20.7 ± 0.1 per cent with
[90]
Y-DOTA-rituximab which reduced to 15.5 ± 0.2 per cent when incubated with cold rituximab. The equilibrium constant K
d
for
90
Y-DOTA-Rituximab was determined to be 3.38 nM. Radiolabelled antibody showed clearance via hepatobiliary and renal routes and activity in tibia was found to be quite low indicating
in vivo
stability of
[90]
Y-DOTA-rituximab.
Interpretation & conclusions:
p-SCN-Bn-DOTA was conjugated with rituximab and radiolabelling with
90
Y was carried out.
In vitro
studies carried out in Raji cells showed the specificity of the radiolabelled conjugate suggesting the potential uitability of the formulation as a radiopharmaceutical for therapy of NHL.
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COMMENTARIES
Gamma glutamyl transferase: A novel cardiovascular outfit for an old liver test
Amedeo Lonardo, Dante Romagnoli
January 2016, 143(1):4-7
DOI
:10.4103/0971-5916.178574
PMID
:26997005
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ORIGINAL ARTICLES
Comparison of nested-multiplex, Taqman & SYBR Green real-time PCR in diagnosis of amoebic liver abscess in a tertiary health care institute in India
KP Dinoop, Subhash Chandra Parija, Jharna Mandal, RP Swaminathan, P Narayanan
January 2016, 143(1):49-56
DOI
:10.4103/0971-5916.178592
PMID
:26997014
Background & objectives:
Amoebiasis is a common parasitic infection caused by
Entamoeba histolytica
and amoebic liver abscess (ALA) is the most common extraintestinal manifestation of amoebiasis. The aim of this study was to standardise real-time PCR assays (Taqman and SYBR Green) to detect
E. histolytica
from liver abscess pus and stool samples and compare its results with nested-multiplex PCR.
Methods:
Liver abscess pus specimens were subjected to DNA extraction. The extracted DNA samples were subjected to amplification by nested-multiplex PCR, Taqman (18S rRNA) and SYBR Green real-time PCR (16S-like rRNA assays to detect
E. histolytica/E. dispar/E. moshkovskii
). The amplification products were further confirmed by DNA sequence analysis. Receiver operator characteristic (ROC) curve analysis was done for nested-multiplex and SYBR Green real-time PCR and the area under the curve was calculated for evaluating the accuracy of the tests to dignose ALA.
Results:
In all, 17, 19 and 25 liver abscess samples were positive for
E. histolytica
by nested-multiplex PCR, SYBR Green and Taqman real-time PCR assays, respectively. Significant differences in detection of
E. histolytica
were noted in the real-time PCR assays evaluated (
P
<0.0001). The nested-multiplex PCR, SYBR Green real-time PCR and Taqman real-time PCR evaluated showed a positivity rate of 34, 38 and 50 per cent, respectively. Based on ROC curve analysis (considering Taqman real-time PCR as the gold standard), it was observed that SYBR Green real-time PCR was better than conventional nested-multiplex PCR for the diagnosis of ALA.
Interpretation & conclusions:
Taqman real-time PCR targeting the 18S rRNA had the highest positivity rate evaluated in this study. Both nested multiplex and SYBR Green real-time PCR assays utilized were evaluated to give accurate results. Real-time PCR assays can be used as the gold standard in rapid and reliable diagnosis, and appropriate management of amoebiasis, replacing the conventional molecular methods.
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REVIEW ARTICLE
Postural & striatal deformities in Parkinson`s disease: Are these rare?
Sanjay Pandey, Hitesh Garg
January 2016, 143(1):11-17
DOI
:10.4103/0971-5916.178577
PMID
:26997007
Parkinson`s disease (PD) is the most common neurodegenerative disease and is characterized by tremor, rigidity and akinesia. Diagnosis is clinical in the majority of the patients. Patients with PD may have stooped posture but some of them develop different types of postural and striatal deformities. Usually these deformities are more common in atypical parkinsonian disorders such as progressive supranuclear palsy and multisystem atrophy. But in many studies it has been highlighted that these may also be present in approximately one third of PD patients leading to severe disability. These include antecollis or dropped head, camptocormia, p0 isa syndrome, scoliosis, striatal hands and striatal toes. The pathogenesis of these deformities is a complex combination of central and peripheral influences such as rigidity, dystonia and degenerative skeletal changes. Duration of parkinsonism symptoms is an important risk factor and in majority of the patients these deformities are seen in advanced statge of the disease. The patients with such symptoms may initially respond to dopaminergic medications but if not intervened they may become fixed and difficult to treat. Pain and restriction of movement are most common clinical manifestations and these may mimick symptoms of musculoskeletal disorders like rheumatoid arthritis. Early diagnosis is important as the patients may respond to adjustment in dopaminergic medications. Recent advances such as deep brain stimulation (DBS) and ultrasound guided botulinum toxin injection are helpful in management of these deformities in patients with PD.
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ORIGINAL ARTICLES
Role of γ-glutamyl transferase levels in prediction of high cardiovascular risk among patients with non-alcoholic fatty liver disease
Benan Kasapoglu, Cansel Turkay, Kadir Serkan Yalcın, Ayse Carlioglu, Aslı Koktener
January 2016, 143(1):30-36
DOI
:10.4103/0971-5916.178585
PMID
:26997011
Background & objectives:
Non-alcoholic fatty liver disease (NAFLD) is an important cause of elevated liver functions. There is evidence showing an association between NAFLD and subclinical atherosclerosis independent of traditional risk factors. We undertook this retrospective study to determine the association of Framingham cardiovascular risk scoring system with liver function tests and inflammatory markers and to find the role of liver function tests in determination of CVD risk among non-obese and non-diabetic subjects with non-alcoholic fatty liver disease.
Methods:
A total of 2058 patients were included in the study. Framingham cardiovascular risk scoring was done of all patients according to the age, gender, systolic blood pressure, serum total cholesterol and HDL cholesterol levels, smoking and antihypertensive medication history. Liver function test, lipid profile, insulin, uric acid, ferritin levels,
etc
. were determined.
Results:
According to the ultrasonography findings, patients were grouped as without any fatty infiltration of the liver (control group) (n=982), mild (n= 473), moderate (n=363) and severe fatty liver disease (n= 240) groups. In severe fatty liver disease group, the mean Framingham cardiovascular risk score was significantly higher than that of other groups. t0 here was a positive correlation between GGT, uric acid and ferritin levels with Framingham cardiovascular score. In multivariate analysis, high GGT levels were positively associated with high-risk disease presence (OR: 3.02, 95% CI: 2.62-3.42) compared to low GGT levels independent of the age and sex.
Interpretation & conclusions:
Cardiovascular disease risk increases with the presence and stage of fatty liver disease. Our findings showed a positive correlation between elevated GGT levels and Framingham cardiovascular risk scoring system among non-diabetic, non-obese adults which could be important in clinical practice. Though in normal limits, elevated GGT levels among patients with fatty liver disease should be regarded as a sign of increased cardiovascular disease risk. Larger studies are warranted to elucidate the role of GGT in prediction of cardiovascular risk.
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Evaluation of activity of hypothalamo-pituitary-gonadal axis in postmenopausal women suffering from severe acute illness
M Neelima Raj, V Suresh, Arun Mukka, Amaresh Reddy, Alok Sachan, Alladi Mohan, B Vengamma, P.V.L.N. Srinivas Rao
January 2016, 143(1):66-71
DOI
:10.4103/0971-5916.178596
PMID
:26997016
Background & objectives:
Postmenopausal women constitute an ideal model for studying the extent of hypothalamo-pituitary gonadal (HPG) axis suppression in critical illness as the gonadotropins are normally high and non-cyclical in them. The objective was to assess the impact of acute severe illness in postmenopausal women on the HPG axis and the activities of the hypothalamo-pituitary-adrenal (HPA), the hypothalamo- pituitary-thyroid (HPT) axes; and levels of serum prolactin, by comparison between critically ill postmenopausal women and otherwise healthy postmenopausal women.
Methods:
Thirty five consecutive postmenopausal women older than 60 yr admitted to medical intensive care with a s0 implified a0 cute p0 hysiology s0 core II (SAPS II) more than 30 were included. On day five of their in-hospital stay, blood samples were collected for oestradiol, luteinizing hormone (LH), follicle stimulating hormone (FSH), cortisol, androstenedione, prolactin and thyroid profile. Thirty five apparently healthy postmenopausal women were selected as controls.
Results:
Levels of LH, FSH, thyrotropin, free thyroxin (fT
4
) and free tri-iodothyronine (fT
3
) were lower while oestradiol, cortisol and dehydroepiandrosterone were higher among patients in comparison to healthy controls. Prolactin levels were similar in patients and controls. Among sick patients both FSH and fT
4
showed a negative correlation (
P
<0.05) with the SAPS II score.
Interpretation & conclusions:
In critically ill postmenopausal women, paradoxically elevated oestrogen levels despite gonadotropin suppression suggests a non-ovarian origin. Prolactin remained unaltered in patients despite their illness, possibly reflecting atrophy of lactotrophs in menopause.
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CLINICAL IMAGES
Bilateral acute ophthalmic artery occlusion in a case of giant cell arteritis
Rupak Roy, Kumar Saurabh
January 2016, 143(1):116-117
DOI
:10.4103/0971-5916.178624
PMID
:26997028
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825
242
CORRESPONDENCES
Drug resistance in
Enterococcus
species in a tertiary level hospital in Assam, India
Jahnabi Barman, Reema Nath, Lahari Saikia
January 2016, 143(1):107-110
DOI
:10.4103/0971-5916.178619
PMID
:26997023
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EDITORIAL
Unravelling the health impact of climate change
Jai Prakash Narain
January 2016, 143(1):1-3
DOI
:10.4103/0971-5916.178571
PMID
:26997004
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1,442
513
VIEW POINT
Putting tobacco harm reduction in perspective: is it a viable alternative?
Sonali Jhanjee
January 2016, 143(1):25-29
DOI
:10.4103/0971-5916.178583
PMID
:26997010
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BOOK REVIEWS
Metabolic syndrome and obesity in childhood and adolescence
January 2016, 143(1):120-121
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541
252
IAP textbook of vaccines
January 2016, 143(1):121-121
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708
268
Cell-based therapy for retinal degenerative disease
January 2016, 143(1):121-122
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480
193
CLINICAL IMAGES
Disseminated nocardiosis in a patient with sarcoidosis
Srinivas Rajagopala, Gurukiran Dangeti
January 2016, 143(1):118-119
DOI
:10.4103/0971-5916.178625
PMID
:26997029
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756
261
COMMENTARIES
Importance of reporting sequence & serological data from mumps outbreaks in unvaccinated populations
Sarah Connaughton
January 2016, 143(1):8-10
DOI
:10.4103/0971-5916.178576
PMID
:26997006
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1,096
342
CORRESPONDENCES
Is the improved function of streptozotocin treated pancreas truly due to transdifferentiation/fusion of transplanted MSCs?
Deepa Bhartiya
January 2016, 143(1):111-112
DOI
:10.4103/0971-5916.178620
PMID
:26997024
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Authors' response
Shobhit Bhansali, Vinod Kumar, Uma Nahar Saikia, Bikash Medhi, Vivekanand Jha, Anil Bhansali, Pinaki Dutta
January 2016, 143(1):112-113
PMID
:26997025
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Paediatric hypertension in Iraq
Mahmood Dhahir Al-Mendalawi
January 2016, 143(1):114-115
DOI
:10.4103/0971-5916.178622
PMID
:26997026
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Authors' response
Prasanta Kr. Borah, Utpala Devi, Dipankar Biswas, Hem Ch. Kalita, Meenakshi Sharma, Jagadish Mahanta
January 2016, 143(1):115-115
PMID
:26997027
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ERRATUM
Erratum
January 2016, 143(1):123-123
DOI
:10.4103/0971-5916.178685
PMID
:26997030
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ORIGINAL ARTICLES
Novel
ATRX
gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia
Habib Bouazzi, Seema Thakur, Carlos Trujillo, Mohammad Khalid Alwasiyah, Arnold Munnich
January 2016, 143(1):43-48
DOI
:10.4103/0971-5916.178589
PMID
:26997013
Background & objectives:
ATRX
is a recessive X-linked intellectual deficiency (X-LID) gene causing predominately alpha-thalassaemia with a wide and clinically heterogeneous spectrum of intellectual deficiency syndromes. Although alpha-thalassaemia is commonly present, some patients do not express this sign despite the
ATRX
gene being altered. Most pathological mutations have been localized in two different major domains, the helicase and the plant homeo-domain (PHD)-like domain. In this study we examined a family of three males having an X-linked mental deficiency and developmental delay, and tried to establish a genetic diagnosis while discussing and comparing the phenotype of our patients to those reported in the literature.
Methods:
Three related males with intellectual deficiency underwent clinical investigations. We performed a karyotype analysis, CGH-array, linkage study, and X-exome sequencing in the index case to identify the genetic origin of this disorder. The X-inactivation study was carried out in the mother and Sanger sequencing was achieved in all family members to confirm the mutation.
Results:
a0 novel
ATRX
gene missense mutation (p.His2247Pro) was identified in a family of two uncles and their nephew manifesting intellectual deficiency and specific facial features without alpha-thalassaemia. The mutation was confirmed by Sanger sequencing. It segregated with the pathological phenotype. The mother and her two daughters were found to be heterozygous.
Interpretation & conclusions:
The novel mutation c.6740A>C was identified within the
ATRX
gene helicase domain and confirmed by Sanger sequencing in the three affected males as well as in the mother and her two daughters. This mutation was predicted to be damaging and deleterious. The novel mutation segregated with the phenotype without alpha-thalassaemia and with non-skewed X chromosome.
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PERSPECTIVES
Scope of translational research focusing rural areas
Dinesh Kumar, Ashoo Grover, Vishwa Mohan Katoch
January 2016, 143(1):18-20
DOI
:10.4103/0971-5916.178579
PMID
:26997008
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