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1.
Hematol., Transfus. Cell Ther. (Impr.) ; 45(3): 342-349, July-Sept. 2023. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1514178

ABSTRACT

ABSTRACT Introduction: The knowledge of clinicians regarding blood transfusion services may impact patient care and transfusion outcome. The wide variation in transfusion practices among clinicians leads to inappropriate blood product usage and jeopardizes patient safety. Hence, this survey study aimed to assess knowledge, attitude and practice among the residents and interns of safe blood transfusion. Methods: The online survey was based on self-administered questionnaires of three sections: 1. Demography; 2. Knowledge, and; 3. Attitude and Practice. One point was assigned for the correct response of each question in every section. The knowledge score was further categorized into three categories, depending on the points obtained. The participants were also divided into four groups, depending on their experience. The Kruskal-Wallis test was applied to determine the difference of knowledge and practice scores in three designated groups of residents and interns. A p-value of less than 0.05 was considered to be significant. Result: A total of 247 residents and interns participated in this study. Thirteen participants had an incomplete response. Out of 234 participants, Senior Residents (SR), Junior Residents (JR), and interns were 70, 96 and 68 participants, respectively. The knowledge scores of interns were significantly low, as compared to SRs and JRs. Practice scores of interns were also significantly low, compared to the JRs. However, most of the residents and interns (85%) were aware of the pre-transfusion testing. Conclusion: Therefore, the mandatory incorporation of the transfusion medicine subject in the undergraduate curriculum can help the young budding doctors to better implement the patient blood management.

2.
Article | IMSEAR | ID: sea-222331

ABSTRACT

Gitelman syndrome (GS) is an autosomal-recessive disorder distinguished by hypokalemia, hypomagnesemia, and hypocalciuria. Elderly people and women of childbearing age are highly affected by GC. Not much evidence is known about its effects on maternal and fetal outcomes. GS is caused by mutations in the thiazide-sensitive Na-Cl cotransporter gene. Due to its rarity and lack of knowledge, it is susceptible to misdiagnosis or being overlooked. In our case, the patient suffered from recurrent hypokalemia, hypomagnesemia, hypochloraemia, and hypocalciuria with hypotension. After taking proper medication, the patient recovered slowly, and during counseling, the patient was provided a diet chart by nutritionists to avoid recurrent electrolyte imbalances.

3.
Article | IMSEAR | ID: sea-221433

ABSTRACT

Aims and objectives: To study the dermatoglyphic patterns in healthy and Type II diabetes mellitus subjects. To study the arches, Ulnar loop, Radial loop and Whorl patterns The present study was conducted i Methods: n the Department of Anatomy, Index Medical College, Indore (M.P.), India. Subjects of the age group 35-65 years was chosen from North Indian Population. Patients and controls were selected randomly from Index Medical College and Hospital, Indore (M.P.) India. The bilateral rolled finger and palm prints of 100 Diabetes Mellitus II patients were compared to 100 controls. Results: Shows that the comparison of right ulnar loop, right whorl, left ulnar loop, left radial loop, and left whorl in male between healthy subjects and type II diabetes mellitus patients, which are statistically significant. (p <0.001). whereas right arch, right radial loop, and left arch is not statistically significant. Fingertip ridge count of right ulnar loop, Conclusions: right radial loop and left ulnar loop, is increased in healthy male subjects as compared to type II diabetes mellitus. While right arch, right whorl, left arch, left radial loop, and left whorl is decreased.

4.
Indian J Ophthalmol ; 2023 May; 71(5): 2158-2161
Article | IMSEAR | ID: sea-225041

ABSTRACT

Purpose: The research activity in pediatric glaucoma (PG) was qualitatively and quantitatively evaluated using a scientometric approach. Methods: The “Web of Science” database was accessed for primary bibliometric data regarding PG using search terms “pediatric glaucoma,” “paediatric glaucoma,” “congenital glaucoma,” and “childhood glaucoma.” The data was analyzed for total research productivity, citations, and scientific output in terms of journals, countries, institutions, and authors. The results were further characterized for coauthorship links and visualized by VOS viewer software. Also, the top 25 cited articles were reviewed with the above bibliometric characteristics. Results: One thousand two hundred and sixty?nine items were obtained from our search query from 1955 to 2022; these received 15,485 citations, originated from 78 countries. The top?3 contributing countries were the United States of America (n = 369), India (n = 134), and China (n = 127). LV Prasad Eye Institute (n = 58), Duke University (n = 44), and King Khalid Eye Specialist Hospital (n = 42) were the top?3 productive institutes. The top?3 prolific authors were Mandal AK (n = 53), Freedman, SF (n = 36), and Sarfarazi, M (n = 33). Journal wise, “Investigative Ophthalmology” (n = 187), “Journal of Glaucoma” (n = 92), and “Journal of AAPOS” (n = 68) were the journals in which the most articles were published. The top?25 cited documents received 3564 citations and were published between 1977 and 2016. The key areas of interest were basic sciences (genetics of childhood glaucoma) and surgical management. Conclusion: United States of America, LVPEI, Mandal AK, and “Investigative Ophthalmology” were the top rankers as far as the productivity and publications related to PG are concerned. Articles on molecular genetics in PG have received interest among the ophthalmology community.

5.
Indian J Lepr ; 2023 Mar; 95: 51-64
Article | IMSEAR | ID: sea-222640

ABSTRACT

Mycobacterium indicus pranii (MIP) earlier known as Mw is a soil-borne, non-pathogenic, saprophytic and rapidly growing strain of mycobacteria. MIP is approved as a vaccine/ immunomodulator for various indications including mycobacterium infections like leprosy in humans. Its administration has resulted in satisfactory clinical improvement, accelerated bacillary clearance, and increased immune responses to Mycobacterium leprae antigens, thereby shortening the full recovery time of the patients. It also shares its antigens with M.tuberculosis. In the last decade, RCTs have been done establishing immunotherapeutic properties of MIP in the treatment of leprosy, tuberculosis, warts and experimently in leishmaniasis. Through its immune inducing and cytotoxic property, it has also proved beneficial for human use especially in treating lung cancer. The beneficial role of it is also being explored in breast, cervical, oral, liver, and bladder cancers. Various studies on MIP have shown that it has immune-modulating properties in humans. The curiosity of the human mind has led to it being tried in Covid treatment trials. The results have shown that administering MIP has lowered inflammatory markers in Covid 19 patients, promising us for it to be a potential treatment option. More RCTs with a larger sample size should be done to establish this. Cytokine storm seen in bacterial sepsis is also decreased with MIP administration. Considering the encouraging results in hastening recovery in various diseases it appears that MIP is perhaps not being exploited to its fullest potential

6.
Article | IMSEAR | ID: sea-220859

ABSTRACT

Introduction: Obesity is a complex multifactorial preventable disease. The problem of obesity is important to discuss because it is closely associated with an increasing risk to many diseases. Objective: To assess the prevalence of obesity among Second MBBS students and find the anthropometric parameters of obesity. Method: This was a cross-sectional, observational study conducted among 100 second MBBS students. Demographic data and anthropometric measures, such as Height, Weight, Body mass index, Waist circumference, and Waist/Hip ratio of the students were collected. Results: BMI was < 18.5 in 17.34% of male and 28% of female students. Around 18.67% of male and 24% of female students had BMI of more than 25 and where as student shaving BMI of more than 30 were 6.66% and 4% in male and female students, respectively. According to the Waist/Hip ratio,16% male (>0.95) and16% female (>0.86) students were categorized as at risk for obesity (p-value 0.86). Conclusion: Almost half of the male and female students were having normal BMI. More number of female students had BMI lower than normal. Students falling in the category of overweight were higher as compared to obese students. Such students were advised for non- pharmacological measures of weight reduction through proper exercise, consuming a healthy balanced diet, and role of physical activity, so as to maintain proper bodyweight and to prevent future complications of obesity were advised to the students

7.
Article | IMSEAR | ID: sea-223148

ABSTRACT

Background: Skin lesions are the most common early symptoms of leprosy, often ignored by patients at an early stage and misdiagnosed as other dermatological diseases by healthcare personnel, leading to delay in diagnosis and treatment of leprosy precipitating permanent neurological deficit, deformities and serious disabilities. Aims: The objective is to evaluate the duration of delay and factors responsible for the delay in reporting of patients, among the newly detected leprosy cases (Grade 1 and Grade 2 disability patients). Methods: A case-control study was conducted during 2014–2016 in three major states of India (Delhi, Gujarat and West Bengal) in 140 randomly recruited newly registered adult leprosy patients (aged 18 years and above) with Grade 2/1 disabilities (cases) and 140 Grade 0 disability patients (controls) in each of these Indian states. Results: It is established that the major contributors for the delay in the early diagnosis of leprosy have been patient-related factors. The median patient delay in the three states of Delhi, Gujarat and West Bengal were five months (0.7–1.8), 2.8 months (2–14) and 12 months (2–24), respectively. Limitations: The study design is case-control and has an inbuilt reporting bias due to the retrospective nature of data collection but the data collection was carried with caution to reduce the recall bias. As the study is carried out in three states, generalisation of interpretation was cautiously executed. The matching ratio of cases and controls was 1:1 in this study, but we could not increase the controls due to operational feasibility during the conduct of the study. Conclusion: Patient delay is a crucial factor responsible for the disability among new leprosy cases. A higher patient delay in these three states reflects that the community is not aware about the signs and symptoms of leprosy. Reducing patient delay is very important for reducing disabilities in the newly diagnosed cases.

8.
Article | IMSEAR | ID: sea-218285

ABSTRACT

Nursing is the largest group in the health sector accounting for approximately 59 percent of health care professionals. Nurses play a key role in rendering preventive, promotive and rehabilitative health care services. The work of nurses at all stages of their careers and at every level of prac- tice is essential in achieving Sustainable Development Goals (SDGs). Hence an opinion on SWOT in nursing and the priority areas of investment was undertaken among nurses. A quantitative research approach and a descriptive survey design were used. This study was conducted among nurses working in educational institutions and hospitals. A non-probability convenient sampling technique and snowball sampling were used. The tool consisted of items to elicit demographic data of nurses and an opinion scale to elicit the nurses'#39; opinion about SWOT in Nursing. A rating scale was used to rate the opinion about priority areas of investment in Nursing. A Google form was developed and circulated to the nurses. A total of 213 responses were received. Incomplete responses were deleted and finally, 195 responses were included for final analysis. Both de- scriptive and inferential statistics were used. Permission from IEC and informed consent were obtained. Confidentiality was maintained. The results revealed that the majority of the nurses had high opinion by having agreement with the factors of SWOT in nursing and had high priority in the areas of investment.

9.
Indian J Exp Biol ; 2023 Jan; 61(1): 59-65
Article | IMSEAR | ID: sea-222595

ABSTRACT

Keratinase is mainly involved in recycling of keratin waste. Of late, researchers extended its application to nanotechnology. In the present study, we have made an attempt to fabricate and characterize gold nanoparticles using crude keratinase enzyme from Serratia ficaria and also study their biological application, particularly antibacterial activity. The formation of gold nanoparticles (AuNPs) was first verified by UV-Visible Spectroscopy. FTIR spectra confirmed the presence of responsible secondary metabolites for stabilization of nanoparticles. The morphological characteristics and particle size of synthesized nanoparticles were analyzed. The AuNPs showed significant antibacterial activity against Klebsiella pneumonia, Bacillus cereus and Staphylococcus aureus. The highest radical scavenging activity, 60.62% for AuNPs was observed at 500 µg/mL. Results of this study reveals significance of keratinase application in nano-based biological applications.

10.
Article | IMSEAR | ID: sea-220666

ABSTRACT

Introduction: Pseudocyst or seroma is an uncommon asymptomatic, non-in?ammatory swelling of the pinna, characterized by endochondral cyst formation. Pseudocyst commonly occur as a post trauma sequela. The objective of our study is to compare and analyse the outcomes of aspiration and window technique in treating auricular seroma. Randomized control study. This study comprised of 20 patients who presented with Study Design: Setting: auricular seroma to the Department of ENT, HSK Hospital, Bagalkot from August 2020 to December 2022. The Methods: diagnosis of the auricular pseudocyst was made clinically. Out of 20 patients, 10 patients were taken up for wide bore needle aspiration followed by contour pressure dressing, and 10 patients underwent the window procedure. Patients were followed up for a period of 6 months. In the 10 cases primarily taken up for needle aspiration, there was a recurrence in 8 out of the Results: 10 cases; while 2 patients showed successful outcome during the 6 months of follow-up. Of the 10 cases taken up primarily for the window procedure, no recurrences were noted as compared to aspiration group, which was statistically signi?cant (p=0.0003) Considering the rate of success and minimal complications encountered in our study, we would . Conclusion: advocate the use of deroo?ng technique for achieving better outcome in the management of pinna pseudocysts.

11.
African journal of emergency medicine (Print) ; 13(4): 250-257, 2023. figures, tables
Article in English | AIM | ID: biblio-1511562

ABSTRACT

Introduction: Prompt, high-quality pre-hospital emergency medical services (EMS) can significantly reduce morbidity and mortality. The goal of this study was to identify factors that compromise efficiency and quality of pre-hospital emergency care in Rwanda, and explore the opportunities for a mobile health (mHealth) tool to address these challenges. Methods: In-depth interviews were conducted with 21 individuals representing four stakeholder groups: EMS dispatch staff, ambulance staff, hospital staff, and policymakers. A semi-structured interview guide explored participants' perspectives on all aspects of the pre-hospital emergency care continuum, from receiving a call at dispatch to hospital handover. Participants were asked how the current system could be improved, and the potential utility of an mHealth tool to address existing challenges. Interviews were audio-recorded, and transcripts were thematically analyzed using NVivo. Results: Stakeholders identified factors that compromise the efficiency and quality of care across the prehospital emergency care continuum: triage at dispatch, dispatching the ambulance, locating the emergency, coordinating patient care at scene, preparing the receiving hospital, and patient handover to the hospital. They identified four areas where an mHealth tool could improve care: efficient location of the emergency, streamline communication for decision making, documentation with real-time communication, and routine data for quality improvement. While stakeholders identified advantages of an mHealth tool, they also mentioned challenges that would need to be addressed, namely: limited internet bandwidth, capacity to maintain and update software, and risks of data security breaches that could lead to stolen or lost data. Conclusion: Despite the success of Rwanda's EMS system, this study highlights factors across the care continuum that could compromise quality and efficiency of prehospital emergency care. Mobile health tools hold great promise to address these challenges, but contextual issues need to be considered to ensure sustainability of use.


Subject(s)
Quality of Health Care , Emergency Medicine , Prehospital Care
12.
Indian J Ophthalmol ; 2022 Dec; 70(12): 4218-4225
Article | IMSEAR | ID: sea-224727

ABSTRACT

Purpose: To compare outcomes of surgical management of uveitic glaucoma (UG) and steroid?induced glaucoma (SIG) in children in terms of intraocular pressure (IOP) control, visual acuity, and associations for failure. Methods: This was a retrospective case–control study of consecutive UG (cases) and non?uveitic SIG (controls) in children <18 years of age who underwent surgery between January 2005 and December 2017. Results: Primary trabeculectomy with mitomycin C (MMC) was performed in 12 cases (mean age: 9.2 ± 4.3 years) and 40 controls (mean age: 10.4 ± 3.7 years) (P = 0.33). Primary phaco?trabeculectomy with MMC was performed in 11 cases (mean age: 11.4 ± 4.7 years) and 16 controls (mean age: 10.4 ± 3.4 years) (P = 0.57). IOP control (P = 0.26), visual acuity (P = 0.97), number of glaucoma medications (P = 0.06), and survival rates (49% cases vs. 68% controls at 5 years; P = 0.22) were similar between the two groups following trabeculectomy. Survival rates in the phaco?trabeculectomy group at 5 years were 68% cases vs. 69% controls (P = 0.71). IOP was higher (P = 0.008) and visual acuity was worse (P = 0.02) in cases at the last visit. Associations for failure (univariate analysis) were younger age (OR: 6.29, 95% CL: 1.43, 27.67; P = 0.03) and male gender (OR: 4.79, 95% CL: 1.09, 20.97; P = 0.04). On multivariate analysis, younger age (OR: 11.985, 95% CL: 1.071, 134.153; P = 0.04) remained significant. Preoperative number of uveitic attacks was protective on univariate (OR: 0.75, 95% CL: 0.48, 1.15; P = 0.1) and multivariate analyses (OR: 0.49, 95% CL: 0.24, 0.09; P = 0.04). Conclusion: Outcomes of trabeculectomy between cases and controls were similar in our series. However, phaco?trabeculectomy in pediatric uveitic eye group fared worse than eyes with SIG.

13.
Article | IMSEAR | ID: sea-219151

ABSTRACT

Introduction: Antiepileptics and antidepressant medications are known for managing neuropathic pain. We aim to compare the effects of pregabalin with low‑dose amitriptyline and gabapentin with low‑dose amitriptyline in managing neuropathic pain in cancer patients undergoing palliative care. Materials and Methods: We conducted our study on 160 cancer patients who were having neuropathic pain and were undergoingpalliative care treatment in our institute. It was a hospital‑based, randomized, tertiary cancer center‑based observational study. After taking approval from the institutional ethics committee and taking written informed consent from patients, the patients were divided into two groups and the effect of medicines on incidence of neuropathic pain was observed; the incidence of burning sensation and the incidence of adverse effects of medications were also analyzed. Statistical analysis was done using paired t‑test and SPSS version 20 software. Results: The onset of relief in pain was earlier in the pregabalin group as compared to the gabapentin group. There was more reduction in a burning sensation in the pregabalin group as compared to the gabapentin group. The incidence of headaches was the same in both groups. Nausea and vomiting were more in the pregabalin group but the overall difference in adverse effects was not statistically significant (P > 0.05) Conclusions: In the management of neuropathic pain in cancer patients who are undergoing palliative care, a combination of pregabalin with amitriptyline was found to be more effective in pain relief than gabapentin with amitriptyline.

14.
Article | IMSEAR | ID: sea-219149

ABSTRACT

Introduction: Cancer pain is known to be one of the Most severe pain anyone in life and is the primary reason for discontinuation of treatment.Sphenopalatine ganglion block (SPGB) can be useful in alleviating pain of carcinoma buccal mucosa. The study aims to analyze the effect of transnasal SPGB in pain management of patients suffering from carcinoma buccal mucosa. Materials and Methods: It was a hospital‑based study done on 150 patients with carcinoma buccal mucosa using a prospective cross‑sectional study design. To do statistical analysis, paired t‑test was used having SPSS software. Results: On visual analogue scale, intensity of pain was found to be notably reduced from 7.42±2.02 to 3.45±1.21 (P < 0.0001), after first sitting. Preprocedure and postprocedure morphine requirement were 90.24 ± 30.24 and 60.42 ± 0.93 mg/day (P > 0.05) At the conclusion of study, the results were found to be statistically significant. Conclusion: Transnasal SPGB is beneficial in improving patient compliance and reducing pain scores and morphine requirement in patients suffering from carcinoma buccal mucosa

15.
Article | IMSEAR | ID: sea-218496

ABSTRACT

Background: A study on Oral Squamous Cell Carcinoma (OSCC) in patients above and below forty years of age. Aims: To compare the clinicopathological features of OSCC in patients below and above 40 years using STNMP [S-site, T- Tumor, N- Node, M – Metastasis, P- Pathology] staging system. Materials and Methods: A cross sectional study with data of patients reported with OSCC from January 2015 to September 2019 in the Department of Oral Pathology and Department of Radiotherapy, was done and analyzed using Chi-square test. The 937 study subjects obtained were categorized according to age as Group I (? 40 years) and Group II (?>40 years). A comparative study of clinicopathological variables using STNMP staging was done. Statistical analysis used: Statistical Package for Social Sciences (SPSS) version 23.0 Results: Of the 937 cases of OSCC, 87 were in Group I and 850 in Group II. Both the groups showed a male predilection. Tongue was the most common site among Group I and the buccal mucosa in Group II. STNMP staging of OSCC showed a higher percentage of individuals in the most advanced stage of the disease Stage IV, 42.5% and 32.2% in Group I and Group II respectively. Conclusions: Both the study groups showed a higher percentage of OSCC presentation in Stage IV which highlights the need for routine oral screening and awareness campaigns about OSCC. Study also points out the advantage of STNMP staging system in giving a detailed information about the tumor which makes it easy for future analysis.

16.
Indian J Cancer ; 2022 Sep; 59(3): 345-353
Article | IMSEAR | ID: sea-221699

ABSTRACT

Background: Neoadjuvant chemotherapy (NACT) is the standard of care for the treatment of locally advanced or non-metastatic breast cancer, which may increase the chances of breast conservative surgery (BCS) in place of radical mastectomy without compromising on the overall survival. The aim of this study was to evaluate the accuracy of mammography (MG), ultrasound (US), and magnetic resonance imaging (MRI) in predicting the complete response and to assess the extent of residual breast cancer in women treated with NACT. Materials and Methods: Fifty-six consecutive patients with stage II or III breast cancer, who underwent imaging evaluation of breast with digital mammogram, US, and MRI after NACT and before the breast surgery, were included in the study. For each patient, pathologic complete response (pCR) or residual tumor (non-pCR) was predicted and the maximum extent of the residual tumor was measured on each imaging modality. These measurements were subsequently compared with the final histopathology results. Results: Of 56 patients, 22 showed pCR with MRI having better accuracy for predicting complete response than the MG and US (area under the receiver operating characteristic curve: 0.86, 0.68, and 0.65, respectively; p = 0.0001 for MRI; p = 0.06 for MG, and p = 0.02 for US). The sensitivity of MRI for detecting pCR was 72.7%; specificity and positive predictive value were 100%. For pathological residual tumor, the size measured on MRI showed significantly higher correlation with the pathologic size (correlation coefficient, r = 0.786), than the MG (r = 0.293) and US (r = 0.508) with P < 0.05. Conclusions: Accuracy of MRI for predicting pathological complete response was significantly higher than the MG and US. Pathologic residual tumor size was also more precisely reflected by the longest tumor dimension on MRI with the strong positive correlation coefficient

17.
Ann Card Anaesth ; 2022 Sep; 25(3): 368-370
Article | IMSEAR | ID: sea-219243

ABSTRACT

Anomalous left atrial chorda is associated with mitral regurgitation. A young woman presenting for mitral valve repair with the diagnosis of mid?segment (A2) of anterior mitral leaflet prolapse causing severe mitral regurgitation. Transesophageal echocardiography examination in pre?bypass period showed an anomalous chorda attaching A2 to the left atrial roof, tethering the anterior mitral leaflet toward the atrial wall. Surgical findings confirmed the abnormally attached chordae and an absence of normal chorda of A2 segment. The anomalous chorda was resected and neo?chordae placed between the A2 segment and papillary muscles and annulus strengthened with an annuloplasty ring

19.
Indian J Ophthalmol ; 2022 Jul; 70(7): 2458-2463
Article | IMSEAR | ID: sea-224394

ABSTRACT

Purpose: To evaluate the role of swept?source optical coherence tomography (SS?OCT) in the management of acute Vogt–Koyanagi–Harada’s (VKH) disease. Methods: Retrospective analysis of SS?OCT images of acute VKH patients between January 2015 and February 2020 in a tertiary eye care hospital. Results: We studied 34 eyes of 17 patients with acute probable VKH disease. The mean age was 31.6 ± 10.4 years. Twelve patients were women. The mean follow?up was 17.1 ± 9.3 months. The mean visual acuity was 0.86 logMAR (Snellen equivalent: 6/45) at presentation and 0.18 logMAR (Snellen equivalent: 6/9) at the last follow?up. The mean subfoveal choroidal thickness (SFCT) was 784.97 microns at presentation, 431.40 microns at the first month of therapy, 453.94 microns at six months of therapy, and 405.83 microns at the last follow?up. Qualitative features noted on SS?OCT on presentation was subretinal fluid (SRF) in 29 (85%) eyes, subretinal hyperreflective dots in 34 (100%) eyes, subretinal septa in 33 (97%) eyes, RPE undulations in 21 (61.7%) eyes, posterior vitreous cells in 34 (100%) eyes, SRF around disc in 9 (26%) eyes, and disc swelling in 34 (100%) eyes. At the end of 1 year of follow?up, RPE undulations were absent in 30 eyes (88%) and disc swelling was notably absent in all 34 eyes (100%), though SRF around disc was noted in 4 eyes (11.7%) of 2 patients who had recurrences. Conclusion: SFCT, SRF around disc, RPE undulation, and disc swelling may be important indicators on SS?OCT to guide therapy and prognosticate recurrences in acute VKH.

20.
Indian Pediatr ; 2022 Jun; 59(6): 463-466
Article | IMSEAR | ID: sea-225341

ABSTRACT

Objective: To define the spectrum of genetic disorders in patients with short stature visiting the genetic out-patient department in a tertiary care hospital. Methods: A chart review was done for 455 individuals (10 months-16 yrs) with short stature, who were evaluated at the genetic clinic from 1 January, 2017 upto 31 October, 2018. 226 patients who needed detailed evaluation, the spectrum of genetic diagnosis is presented. Results: Proportionate short stature was identified in 63% individuals (n=142) of which 93 (65%) were recognizable syndromes such as Turner syndrome, and William syndrome, and RASopathies. In clinically undefined syndromes (39, 27%), a diagnosis could be made by karyotype (n=3/10), chromosomal microarray (6/12) and exome sequencing (1/6). In the 84 children in the disproportionate short stature group (37%), lysosomal storage disorders (LSDs) (45%, n=38) were identified by enzyme analysis in 86.8% and skeletal dysplasias (44%, n=37) identified by skeletal survey in 89% cases. Conclusions: In undefined syndromic short stature, chromosomal microarray may be the first investigation of choice if phenotyping is not suggestive of a specific genetic syndrome. Exome sequencing can be useful in identifying newer genes among idiopathic and familial short stature cohorts.

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