International Journal of Medical Research & Review (IJMRR)
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Trisomy 13 mosaicism syndrome with atypical plurimalformative phenotype
Get PDFIntroduction: Orofacial clefts are important congenital malformations of the lip, palate, or both caused by complex genetic and environmental factors. Aims and
Objectives: The present study aims to highlight the phenotypic heterogeneity of trisomy 13 mosaicism.
Material and Methods: We present one clinical case of a 30-year-old, Caucasian woman who is pregnant for the first time.
Techniques of work study: anamnesis, clinical examination, serological tests for Toxoplasmosis, Rubeola, CMV and Herpes, ultrasound examination at 20 weeks gestation with General Electric Echographe Voluson E10 BT18, amniocentesis, fetal chromosome analysis and genetic counseling.
Results: Ultrasound examination showed a viable singleton fetus with intra-uterine growth restriction, oligohydramnios, bilateral cleft lip and cleft palate, hypoplastic nasal bone and bilateral polycystic kidneys. Amniocentesis was done, and the fetal chromosomal analysis revealed a fetus with 46, XY/47, XY,+13 mosaic karyotype. After a complex genetic counselling the parents opted, to terminate the pregnancy. The autopsy confirm the prenatal ultrasound diagnosis.
Conclusion: Routine ultrasound examination during pregnancy and specific genetic testing are essential for the early prenatal detection of major structural fetal anomalies associated with rare genetic chromosome syndromes
Prevalence of H. pylori in Immune Thrombocytopenic Purpura (ITP) in a tertiary care center, South India
Get PDFIntroduction: Immune thrombocytopenic purpura (ITP) has been linked with Helicobacter Pylori infection.
Objectives: The objective of the present study was to determine the prevalence of H pylori infection in adult ITP patients in a tertiary care center in South India.
Methods: 50 adult patients with ITP in the Department Hematology, Madras Medical College were recruited for a cross -sectional study over a period of 6 months. Biopsy from the antrum was subjected to Rapid urease test to detect H. pylori. A total of 50 patients participated in the study.
Result: The prevalence of H. pylori infection in ITP patients was 36%. The majority of patients were male (78%).
Conclusion: The diagnosis of H. pylori in ITP patients may be considered in high prevalent areas
Comparison of medical therapy with renal denervation in patients with resistant hypertension
Get PDFIntroduction: Catheter-based renal denervation selectively reduces renal sympathetic efferent activity and is accompanied by an increase in renal blood flow and reduction in plasma renin activity. Thus, ablation of afferent and efferent renal nerves in patients with treatment-resistant hypertension probably leads to reductions in blood pressure.
Material and methods: The present study conducted a non-randomized case-control study and enrolled 15 patients who underwent renal denervation therapy for resistant hypertension as cases and 16 patients who were on medical management for resistant hypertension served as controls.
Results: It was found that catheter based renal denervation is safe, significantly reduces blood pressure at 1 month, 3 months and 6 months of follow-up without any major adverse events. It was observed that a significant BP reduction when compared to patients only on medical therapy. The mean number of drugs decreased significantly in the denervation group in follow-up.
Conclusions: Though the present study showed a significant BP reduction in patients with renal denervation, a significant effect on BP was not observed in a large randomized trial simplicity HTN-3 and major criticism was on the trials design and neuroscience failings. Even today the clinical dilemma is still continuing and further evaluation in rigorously designed clinical trials are necessary to validate alternative methods of renal denervation or to confirm previously reported benefits of renal denervation. The current study anticipate that future trials will also address the effectiveness of renal denervation in disease states other than hypertension
Profile of thyrotoxic patients presenting as pyrexia of unkown origin: An observational case study from a tertiary care hospital
Get PDFObjective: To study the profile of thyrotoxic patients evaluated for pyrexia of unknown origin (PUO).
Methods: 25 patients, who were evaluated for pyrexia of unknown origin and found to have thyrotoxicosis as the cause for fever, were managed as per the recommended protocol and followed for 12 months.
Results: All the patients were presumed to have infectious fever and had received antibiotics prior to diagnosis. Out of 25 patients, 20 (80%) had subacute thyroiditis (SAT) and 5 (20%) had hyperthyroidism (4 had Graves disease and 1 toxic adenoma). Patients with hyperthyroidism received thionamides and β- blockers. 50% patients with subacute thyroiditis received analgesics, 25% received steroids only and 25% received a combination of analgesics and steroids. Early-onset transient hypothyroidism occurred in 40% patients with SAT, permanent hypothyroidism was less common and only 15% of patients were receiving levothyroxine therapy after one year of follow-up.
Conclusion: Thyrotoxicosis should always be included in the differential diagnosis while evaluation of patients with PUO. Most of the patients with thyrotoxicosis are wrongly misinterpreted as infectious PUO and given unnecessary antibiotics. Early-onset transient hypothyroidism is common in SAT compared to permanent hypothyroidism. Although, symptomatic relief is achieved with analgesics and steroids but does not prevent the development of hypothyroidism
Clinical correlation of retinal nerve fiber layer thickness in multiple sclerosis patients- A North Indian study
Get PDFBackground: Axonal loss is thought to occur early in the course multiple sclerosis (MS) and is supposed to be associated with, and predictive of, neurologic deficits progressing to permanent disability.Axonal loss in the retinal nerve fiber layer (RNFL) is measured by optical coherence tomography (OCT).
Material and Methods: A longitudinal observational study, conducted on 30 MS patients. All subjects underwent neurological examination, including expanded disability status scale (EDSS) scoring and OCT on two visits, minimum 2 months apart.
Results: Total of 60 eyes of 30 patients were subdivided into 21 eyes having optic neuritis (ON) [‘MS – ON’] and 39 eyes without ON. The RNFL thickness (RNFLt) was found to be significantly reduced in all parameters except in temporal quadrant, as the duration of disease increases. Average RNFLt were found to have negative correlation (r = -0.450) with disease duration. Negative correlation (r=-0.657) was also found between EDSS score change and average RNFLt change. The eyes having ON showed statistically significant RNFL thinning as compared to the non – ON fellow eyes. The baseline EDSS score was found to be negatively correlated (moderate degree, r = -0.348) with baseline average RNFL thickness, with p-value of 0.006.
Conclusions: The RNFLt is not only significantly thinner in those with history of ON, but it is also affected remarkably even in absence of prior ON, suggesting subclinical ongoing axonal loss in patients with MS. The EDSS score is inversely correlated with RNFL thickness
The Role of Procalcitonin in the Diagnosis and Prognosis of Severe Surgical Patients with Sepsis
Get PDFPurpose:To investigate the clinical significance of serum procalcitonin (PCT) concentrations and related indicators of infection in the early diagnosis and prognosis of severe surgical patients with infection.
Methods: This study included 77 critically ill patients taken from the Surgery Department to the Intensive Care unit between June 2015 and July 2017. Patients were divided into control, sepsis and septic shock groups, and their serum concentrations of PCT and related indicators of infection were compared.
Results: PCT levels increased significantly from the control to the sepsis group and from the sepsis to the septic shock group (P<0.01 each). There were no significant differences in white blood cell (WBC) count, neutrophil percentage and body temperature among the groups (P>0.05). Receiver operating curve (ROC) analysis showed that the areas under the curve (AUC) for PCT, WBC count, neutrophil percentage and body temperature were 0.949, 0.657, 0.640 and 0.656, respectively. PCT, with 0.52 µg/L as the cut-off concentration, had the highest performance in the diagnosis of severe surgical sepsis, with a sensitivity of 96.1%, a specificity of 92.3% and a Youden index of 0.884.
Conclusion: PCT concentration is diagnostic of infection in severe surgical patients, has high specificity in the early diagnosis of sepsis, and can reflect the severity of infection
Outcome of patients of acute kidney injury in chronic liver disease
Get PDFIntroduction: Chronic liver disease (CLD) is also a common clinical problem afflicting mankind. Occurrence of Acute kidney injury in patients with chronic liver disease is frequent finding which makes prognosis of CLD even poorer.
Material and methods: A prospective cohort observational study on 100 adult patients of chronic liver disease with AKI conducted over a period of 24 months from August 2016 to August 2018 at Sri Aurobindo medical college and postgraduate institute. Detailed clinical examination and biochemical tests were done. Univariate and multivariate logistic regression (odds ratio) analyses were used.
Results: 87% were males and 13% were females. Maximum no. of patients found in AKI stage III 40% followed by stage I 36% then stage II 24%. Among these 31% patient recover after treatment, 26% partially recovered and 43% patient didn’t response to treatment. Overall 75% survived while 25% died in this study.
Conclusion: Majority of Patients with Prerenal AKI had full recovery, as compared to HRS-AKI and intrinsic AKI where full recovery was less common. Patients in stage 1 AKI had more proportion of patients with full recovery than stages 2 and 3. Regarding outcome, Patients in stage 1 and stage 2 has higher survival rates as compared to stage 3, which is statistically significant
Evaluation of difficult airway in paediatric population ranging from 5-12 years age group
Get PDFBackground: The aim of this study is to predict difficult airway on the basis of various airway assessment parameter in the paediatric population between 5-12 years age group. To assess the value of modified Mallampati test (MMT), upper-lip-bite test (ULBT), thyromental distance (TMD), ratio of height to thyromental distance (RHTMD) from which Cormack Lehane grade was derived to predict difficult airway i.e. difficult intubation in paediatric patients ranging from 5-12 years age.
Material and Methods: 100 ASA grade I & II paediatric patients of either sex between the age group of 5-12 years posted for elective surgery under general anaesthesia requiring endotracheal intubation were included in the study. Modified Mallampati test, upper lip bite test, thyromental distance and ratio of height to thyromental distance of the patients were measured and recorded. All the distances were measured with the help of a flexible measuring tape so as to measure the distances accurately.
Results: Modified Mallampati test has the highest sensitivity (75%) and specificity (92.05%) among all the other screening tests. It also has high positive predictive value (56.25%), negative predictive value (96.43%) and diagnostic accuracy (90%). Upper Lip Bite test has high specificity (79.55%) and negative predictive value (93.33%) with high diagnostic accuracy (77%). It has a sensitivity of 58.33% which is similar to the sensitivity of thyromental distance and ratio of height to thyromental distance. Thyromental distance has high specificity (65.90%) with high negative predictive value (92.06%).
Conclusion: Modified Mallampati test is a useful bedside screening test for predicting difficult intubation in patients between 5-12 years age group. The Upper Lip bite test and thyromental distance has high specificity with high negative predictive value and diagnostic accuracy. The ratio of height to thyromental distance is least useful predictor of airway assessment
A study of lipid profile in chronic kidney disease in pre- dialysis patients
Get PDFIntroduction: Longitudinal studies have established that Cardiovascular Disease (CVD) occur more frequently and are the leading cause of death in Chronic Kidney Disease (CKD). Dyslipidemia has been established as an important risk factor in the pathogenesis of CVD in CKD patients.
Objectives: Present study was aimed to evaluate (in CKD patients),Demography along with Prevalence and Pattern of Dyslipidemiaand co-relation of Dyslipidemia with various CK Dstages. Methods: Present Cross-sectional study, conducted in Department of Medicine, R.D. Gardi Medical College and CRG hospital, Ujjain, M.P. from 1st January 2015 to 31st July 2016.We studied 115 pre-dialysis CKDcases and 100 age & sex matched controls. CKD was diagnosed as per 2012 KDOQI Criteria.
Result:In CKD cases,maximum 23.47% cases belonged to fifth decade. Mean age was 48.99 ± 16.74. Male to Female ratio was1.21: 1. Prevalence of individual dyslipidemias was High TC= 50.44%, High TG= 67%, High LDL-C= 42%, High VLDL-C= 67% and Low HDL-C= 73.9%. Overall, prevalence of dyslipidemia was 82.6%. Significant increase in TG and VLDL-C and significant decrease in HDL-C was observed. TC and LDL-C were non- significantly increased.TC, TG, LDL-C and VLDL-C were in increasing trend with progression of CKD stages (3-5) and increased in Subgroup II (ESRD) as compared to Subgroup I (Non-ESRD), the increase being significant in case of TG and VLDL-C. HDL-C value was in decreasing trend with progression of CKD stages and significantly decreased in Subgroup II as compared to Subgroup I.TC, TG, LDL-C and VLDL-C showed negative correlation with GFR while HDL-C showed positive correlation. TG, HDL-C and VLDL-C showed highly significant correlation. HDL-C showed strongest correlation, followed by TG.
Conclusion: Patients with CKD are predisposed to accelerated atherosclerosis leading to increased CVD. This study confirms the presence of atherogenic lipid profile in CKD
Prognostic significance of primary tumour volume in nasopharyngeal carcinoma – a single institute study
Get PDFIntroduction: Nasopharyngeal carcinoma is very uncommon in the southern part of India, the age-adjusted incidence rate is less than 1 per 1,00,000 population. This study is undertaken to evaluate the outcome of nasopharyngeal carcinoma and its correlation with Primary tumor volume.
Material and methods: Total of 50 non-metastatic nasopharyngeal carcinoma patients treated with concurrent chemo radiation between January 2013 and December 2015 were included in the study. All patients were treated via IMRT with dose of 66-70Gy, along with concurrent chemotherapy. Initial tumour volume was measured from CT based contouring and mean dose delivered was calculated. All patients were followed up for survival, relapse and metastasis.
Results: The median follow up for the group was 24 months. The median Gross tumor volume of primary disease and nodal disease was 61.6 cubic centimetres and 35.4 cubic centimeters respectively. The 2 year Disease free survival and Overall survival for the entire group was 64% and 68% respectively. There was significant difference (p-0.018) between disease free survival of low volume disease group (LVD) which was 78 % as compared to high volume disease (HVD) group 52 % at 24 months, similarly Overall survival was also significantly better (p-0.015) in LVD group as compared to HVD group 80% vs 55% at 24 months. Among the treatment related factors adjuvant chemotherapy significantly improved the outcome in HVD group but no difference was seen in LVD group.
Conclusion: Our patients had large volume primary disease, the OS and DFS was significantly better in LVD patients, adjuvant chemotherapy after concurrent chemoradiotherapy had no additional benefit for LVD patients but improved DFS and MFS in HVD Patients