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Achondroplasia is an autosomal dominant congenital disorder of endochondral ossification, induced by abnormal activity of fibroblast growth factor receptor 3. Affected individuals have short stature and often present with neurological and skeletal complications. Most have normal intelligence. Ocular association with achondroplasia include simple microphthalmos, congenital-onset glaucoma with presumed Axenfeld-Rieger anomaly, telecanthus, exotropia, inferior oblique overaction, angle anomalies, Duane retraction syndrome, cone-rod dystrophy, fundus albipunctatus, chorioretinal coloboma, macular coloboma, keratoconus, and developmental cataract. A 6-year-old achondroplasia boy with developmental delay had a high axial length (high myopia) in both eyes. This child had a left eye subluxated cataractous lens, while the other eye showed mild lens changes. All achondroplasia patients should be routinely screened in detail for lens and other ophthalmological anomalies so that they can undergo timely intervention and management. [ABSTRACT FROM AUTHOR]

CONTEXT: This study aimed to know the clinical and demographic profile of pediatric cataracts in Oman. AIMS: The aim of this study was to describe the demographic and clinical profile of pediatric cataracts in a tertiary care hospital, Oman. SETTINGS AND DESIGN: This was a hospital-based, retrospective observational study. SUBJECTS AND METHODS: A retrospective cross-sectional study of all Omani children presented to ophthalmology outpatient at a tertiary hospital, between January 2012 and December 2016. All patients aged <18 years presented with lens opacity were included in the study. Traumatic cataract cases were excluded from the study. STATISTICAL ANALYSIS USED: SPSS version 22.0 International Business Machines, (Armonk, New York, Unites States of America, dated 8/13/13) used for statistical analysis. RESULTS: Among 379 eyes of 239 patients, 58.6% (140 patients) had bilateral cataracts. Male-to-female ratio was 1.38:1. We arrived at prevalence of 4.32 with 95% confidence interval (3.85, 4.77) of congenital cataract cases/10,000 Omani Children. Most patients (54%) were from either Muscat (28.9%) or A'Sharqiyah (25.1%). The median age of cataracts first noticed by parents was 3 months and the median age of presentation to the eye care unit was 15 months. Patients with positive family history significantly (P = 0.007) presented with bilateral cataracts (75%). About 22.2% of the patients had associated systemic diseases. Among those with systemic association, 77.4% of cases had bilateral cataracts. About 35.4% of eyes had another ocular association. The most common ocular association was squint (11.1%). The most common cataract morphologies at presentation were 20.1% presenting with total lens opacities and 19.8% with posterior subcapsular/posterior lenticonus. CONCLUSIONS: A higher demographic distribution of pediatric cataracts was found in Muscat governorate. There was a significant median delay in presentation to the pediatric ophthalmology clinic by 12 months since lens opacity was first noticed by parents. [ABSTRACT FROM AUTHOR]

Purpose: To report the outcome of surgically managed primary angle-closure glaucoma (PACG) cases in 84 eyes at a tertiary eye hospital in South India. Materials and Methods: Retrospective analysis of medical records of 84 eyes of 81 patients with PACG, who were surgically managed over 4 years at tertiary eye hospital in South India. Data were obtained from medical and surgical records of the patients identified from October 2010 to October 2014. The patients were operated by two surgeons in the Glaucoma Department of the institute. Results: The patients' mean age at surgery was 56.21 years. Twenty-four eyes with a mean intraocular pressure (IOP) of 45.8 mmHg underwent trabeculectomy, and 60 eyes with a mean IOP of 29.9 mmHg underwent trabeculectomy with cataract extraction with or without intraocular lens implantation with good postoperative IOP control. A statistically significant greater reduction in IOP was noted in 14 patients who underwent augmentation with Mitomycin C (P = 0.0060, Student's t-test). Conclusion: Knowing the risk factors, the diagnostic methods and treatment options for PAC disease is vital to every ophthalmologist as it is potentially treatable yet visually debilitating if untreated. Trabeculectomy or trabeculectomy with cataract extraction preferably with antifibrotics is an excellent treatment modality for PACG, which also effectively halts the disease progression. [ABSTRACT FROM AUTHOR]

Osteomas are benign slow growing, osteogenic lesions which may arise from proliferation of either cancellous or compact bone. They are usually sessile tumours composed of dense sclerotic, well formed bone projecting out from the cortical surface, most often of the skull and facial bones. This paper reports a case of a peripheral osteoma in the hard palate of a 45-year-old man, which was treated by periodontal flap surgery with surgical excision of the bony lesion. Peripheral osteomas of jaw bone are uncommon and usually associated with Gardner's syndrome. Histological examination confirmed the clinical impression of a peripheral osteoma. Patient was reviewed after one year and was asymptomatic with no recurrence of the lesion. [ABSTRACT FROM AUTHOR]

Purpose: To determine the causes of severe visual impairment and blindness in children in schools for the blind in southern Karnataka state of India. Method: Children aged less than 16 years with a visual acuity of < 6/60 in the better eye, attending the residential schools for the blind were examined in 2005-2006, in the Karnataka state in the south of India. History taking, visual acuity estimation, external ocular examination, retinoscopy, and fundoscopy were done on all students. Refraction and low vision work-up done where indicated. The anatomical and etiological causes of severe visual impairment (< 6/60-3/60) and blindness (< 3/60 in the better eye) were classified using the World Health Organization's prevention of blindness programs' record system. Results: A total of 1,179 students were examined, 891 of whom fulfilled the eligibility criteria. The major anatomical sites of visual loss were congenital anomalies (microphthalmos, anophthalmos) (321, 35.7%), corneal conditions (mainly scarring due to vitamin A deficiency, measles, trauma) (133, 14.9%), cataract or aphakia in 102 (11.4%), and retinal disorders (mainly dystrophies) in 177 children (19.9%). Nearly one-fourth of children were blind from conditions which could have been prevented or treated (27.8%), 87 of whom were referred for surgery. Low vision devices improved near acuity in 27 children (3%), and 43 (4.8%) benefited from refraction. Conclusions: Congenital anomalies, cataract, and retinal conditions account for most of the blindness in children. [ABSTRACT FROM AUTHOR]

Background and Objectives: Skeletal muscle is characterized by its mass, strength and performance. These normative values are pivotal in defining sarcopenia. Sarcopenia is associated with poor outcome of numerous medical and surgical conditions. This study aimed to establish normative benchmarks for skeletal muscle mass, strength and performance within the context of the Asian (Indian) population., Methods: Our investigation utilized the computed tomography (CT) skeletal muscle index (SMI), handgrip strength (HGS), gait velocity and chair-stand test to construct reference values for muscle characteristics in the Indian population., Results: The SMI analysis incorporated 1485 cases of acute abdomen (54.7%) males). The calculated SMI (kg/m 2 ) was 38.50 (35.05-42.30) in males and 36.30 (32.20-41.20) in females (p = 0.510). The study also involved 3083 healthy individuals (67.6% males) evaluated for muscle strength and performance between August 2017 and August 2018. Notably, HGS (kg force) was recorded at 34.95 (26.50-43.30) in males and 25.50 (18.60-31.20) in females (p < 0.001). Gait velocity (metres/second) exhibited values of 1.25 (1.04-1.56) in males and 1.24 (1.03-1.56) in females (p = 0.851). Additionally, chair-stand test (seconds) results were 10.00 (9.00-13.00) in males and 12.00 (10.00-14.00) in females (p < 0.001)., Conclusions: The investigation determined that males had greater muscle strength and performance than females. But gender wise, there was no significant difference in muscle mass. Interestingly, our population's muscle parameters were consistently lower compared to western literature benchmarks. These normative values will help to define sarcopenia parameters in our population, which have prognostic value in multiple ailments., (© 2024. Indian Society of Gastroenterology.)

Background Pilonidal sinus disease (PSD) is a chronic skin condition caused by hair retention that affects the sacrococcygeal cleft. The purpose of this study is to compare the efficacy of negative pressure wound therapy (NPWT) to routine daily dressings (DDs) in wound healing after complex or infected pilonidal sinus tract excision. Materials and methods The study included 81 individuals who had extensive local excisions for pilonidal sinuses that were complex or infected. Randomly selected participants were given either NPWT or the usual dressing. Between the two groups, the length of hospitalization, the amount of time needed to resume daily activities, and the amount of time needed for full wound closure were compared. Results Forty-two patients received NPWT, while 39 patients received DDs as usual. There was no discernible difference between the two groups in terms of operating time or hospital stay. However, patients who underwent NPWT experienced a quicker final wound closure (59.24 ± 10.21 days compared to routine DD with a mean time of 75.31 ± 14.68 days, P = 0.001) and returned to normal activities earlier (17.36 versus 21.75 days in NPWT and routine DD, respectively). Conclusion Compared to patients who received standard DDs, those who were postoperatively managed with NPWT showed faster wound healing and return to normal activities. Whenever feasible, this strategy may be employed to improve patient recovery., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Kansal et al.)

Background/purpose: Patients with functional dyspepsia (FD) have poor health-related quality of life (HRQOL), but Indian data are  lacking. Also, there is non-availability of validated disease-specific questionnaire to assess HRQOL in Hindi-speaking patients with dyspepsia. We aimed to develop and validate a reliable translation of Short-Form Nepean Dyspepsia Index (SF-NDI) in Hindi, and assess the impact of FD on HRQOL in Indian patients., Methods: Cross-cultural adaptation of English version of SF-NDI, translation to Hindi, and adaptation of Hindi version were performed using standard procedures. English and Hindi versions were assessed against Short Form-36 (SF-36), examining for internal consistency, test-retest reliability, and validity., Results: Total 211 FD patients (144 Hindi speaking, 67 English speaking) were enrolled (mean age 40.8 ± 11.7 years; male:female = 115:96). Median total SF-NDI scores for both languages were 38.75 and 40.0, respectively. Test-retest reliability intraclass correlation coefficients were 0.85 (Hindi) and 0.89 (English). Internal consistency evaluation revealed Cronbach's α coefficient of 0.79-0.86 (Hindi) and 0.78-0.89 (English). SF-NDI sub-scales showed moderate to good correlation with various domains of SF-36 (content validity). There was significant (p &lt; 0.001) decline of HRQOL in patients with severe dyspepsia relative to those with mild dyspepsia (construct validity). On multivariate analysis, factors independently associated with HRQOL were duration of symptoms and dyspepsia severity., Conclusion: Both English and Hindi versions of SF-NDI are reliable and valid for HRQOL assessment in Indian FD patients, and will be useful in future epidemiological and clinical studies. Indian FD patients have poor HRQOL, being worse in those with severe dyspepsia and longer duration of symptoms., (© 2022. Indian Society of Gastroenterology.)

This paper focuses on the fabrication of high-quality novel products using a µEDM process variant called Reverse-µEDM. The tool plate required for the Reverse-µEDM is fabricated using Nd: YAG-based laser beam micromachining (LBµM) at the optimized process parameters. The Grey relation analysis technique is used for optimizing LBµM parameters for producing tool plates with arrayed micro-holes in elliptical and droplet profiles. Titanium sheets of 0.5 mm thickness were used for such micro-holes, which can be used as a Reverse-µEDM tool. The duty cycle (a combination of pulse width and frequency) and current percentage are considered as significant input process parameters for the LBµM affecting the quality of the micro-holes. A duty cycle of 1.25% and a current of 20% were found to be an optimal setting for the fabrication of burr-free shallow striation micro-holes with a minimal dimensional error. Thereafter, analogous protrusions of high dimensional accuracy and minimum deterioration were produced by Reverse-µEDM using the LBµM fabricated tool plates.

Background and Aim: Low fermentable oligosaccharide, disaccharide, monosaccharide, and polyol (FODMAP) diet improves irritable bowel syndrome (IBS) symptoms. Data on long-term "modified" FODMAP diet are emerging. We aimed to assess efficacy and acceptability of short-term "strict" low FODMAP diet (LFD) and long-term "modified" FODMAP diet in patients with diarrhea-predominant IBS (IBS-D)., Methods: This prospective randomized trial included patients with IBS-D (Rome IV) and IBS severity scoring system (IBS-SSS) ≥ 175. In phase I (4 weeks), patients were randomized to strict LFD and traditional dietary advice (TDA) groups. From 4 to 16 weeks, LFD group was advised systematic reintroduction of FODMAPs ("modified" FODMAP diet). Response was defined as > 50-point reduction in IBS-SSS., Results: Of the total 166 patients with IBS-D screened, 101 (mean age 41.9 ± 17.1 years, 58% male) were randomized to LFD (n = 52) and TDA (n = 49) groups. Both at 4 and 16 weeks, total IBS-SSS and IBS quality of life score reduced significantly in both groups, but there was significantly greater reduction in LFD group. By intention-to-treat analysis, responders in LFD group were significantly higher than TDA group (4 weeks-62.7% [32/51] vs 40.8% [20/49], respectively, P = 0.0448; 16 weeks-52.9% [27/51] vs 30.6% [15/49], respectively; P = 0.0274). Compliance to LFD was 93% at 4 weeks and 64% at 16 weeks. Energy, carbohydrate, fat, and fiber intake showed reduction in LFD group at 4 weeks, which improved till 16 weeks., Conclusions: Strict LFD for short-term and "modified" LFD for long term in IBS-D patients is acceptable and leads to significant improvement in symptoms and quality of life., (© 2021 Journal of Gastroenterology and Hepatology Foundation and John Wiley & Sons Australia, Ltd.)

Objectives: Sarcopenia is characterized by the loss of skeletal muscle mass, strength and performance. The study aimed to provide cut off values of various Sarcopenia parameters [computerized tomography skeletal muscle index (SMI), handgrip strength (HGS), gait velocity and chair stand] to predict mortality in end-stage liver disease (ESLD)., Methods: The inclusion criteria were age 18-75 years, model for end-stage liver disease > 15. All patients with advanced heart, lung, kidney diseases, active malignancy were excluded from the study. Sarcopenia indices were compared between survivors and non-survivors to find cut off value for prediction of mortality in ESLD patients., Results: One hundred sixty-one subjects suffering from ESLD were enrolled. The cutoff value of the SMI to identify high risk of mortality in sarcopenia patients is ≤21.2 cm2/m2, area under the curve (AUC) 0.537 [95% confidence interval (CI) 0.456-0.616]. The cutoff value of the hand grip strength to identify high-risk mortality is ≤25.3 kilogram-force, AUC 0.682 (95% CI 0.604-0.753). The cutoff value of the gait velocity for the same is as ≤0.84 m/s, AUC 0.551 (95% CI 0.459-0.641). The cutoff value of the chair stand is ≥20.9 seconds, AUC 0.956 (95% CI 0.910-0.983). In the multivariate analysis, HGS, gait velocity and chair stand correlated with mortality., Conclusion: The current study is a comprehensive Asian study that gives the cut off values of Sarcopenia: muscle mass, strength and performance which identify high risk of mortality in ESLD patients. Muscle strength and performance correlated with mortality., (Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.)

Study Design: Retrospective analysis of prospectively collected data., Objective: The aim of the study was to compare the outcome of anterior cervical decompression and fusion (ACDF) with stand-alone tricortical iliac crest autograft versus stand-alone polyetheretherketone (PEEK) cage in cases of cervical spondylotic myelopathy., Methods: Prospectively collected data of 60 patients in each group were compared., Results: There was statistically significant improvement noted in postoperative Modified Japanese Orthopaedic Association (MJOA) follow-up scores with comparison pairs of preoperative versus 6 months, preoperative versus 1 year, and 3 months versus 6 months, 3 months versus 1 year in both groups. But improvements in MJOA scores were statistically insignificant between 6 months and 1 year ( P = .0639) for the autograft group when compared with PEEK cage group ( P = 0001). The mean loss of segmental lordosis on follow-up X-ray for the autograft group was (5.89 ± 2.90°), which was significantly higher (1.88 ± 2.77°) than the mean loss seen in the PEEK cage group ( P = .01). This was most evident between 6 months and 1 year, resulting in plateauing of the improvement in MJOA score between 6 months to 1 year in the autograft group. While there was no statistical difference between fusion rates between the groups for 1 and 2 levels of ACDF, overall fusion rates were significantly better for 1-level ACDF (95.74%) when compared with 2-level ACDF (76.00%)., Conclusion: ACDF with PEEK cage is the fusion technique of choice for cervical fusion with fewer complications and better functional recovery in the treatment of cervical spondylotic myelopathy., Competing Interests: Declaration of Conflicting Interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

High-quality data on the efficacy of L-ornithine L-aspartate (LOLA) in patients with cirrhosis and bouts of overt hepatic encephalopathy (OHE) are missing. We evaluated the efficacy of intravenous LOLA in the reversal of bouts of OHE in patients with cirrhosis. In this prospective, double-blind, randomized, placebo-controlled trial conducted at two tertiary care institutes in India, 370 patients with cirrhosis and bouts of OHE were screened. After exclusion, 193 (52.16%) patients were randomized to receive either intravenous infusions of LOLA (n = 98), 30 g daily, or placebo (n = 95) for 5 days. Standard of care treatment (including lactulose and ceftriaxone) was given in both groups. Randomization was done centrally (http://www.sealedenvelope.com/). All study personnel were blinded to the treatment assignment. Fasting venous ammonia levels were estimated daily from 0 to 5 days. Serum tumor necrosis factor-alpha, interleukins, hemogram, and liver and renal function tests were performed at days 0 and 5. Primary outcome was mental state grade at day 5 of treatment. The grade of OHE was significantly lower in the LOLA group (compared to placebo) on days 1-4 but not on day 5. The mean time taken for recovery was lower in the LOLA group compared to the placebo group (1.92 ± 0.93 versus 2.50 ± 1.03 days, P = 0.002; 95% confidence interval -0.852 to -0.202). Venous ammonia at day 5 and length of hospital stay were significantly lower in the LOLA group. No significant difference in interleukins was seen between the groups. Conclusion: In patients with bouts of OHE, intravenous LOLA (as an add-on therapy to lactulose and ceftriaxone) significantly improves the grade of OHE over days 1-4, but not on day 5, and decreases venous ammonia, time of recovery, and length of hospital stay. (Hepatology 2018;67:700-710)., (© 2017 by the American Association for the Study of Liver Diseases.)

Background and Aims: Recently, Sofosbuvir was launched in India at affordable cost. We conducted a real-life study to determine the efficacy and safety of Sofosbuvir plus Ribavirin, with and without peginterferon-alfa 2a, in patients with chronic hepatitis C (CHC) genotype 3, the commonest genotype in South Asia., Methods: This study included data of CHC patients from 11 sites in northern India between March 2015 and December 2015 (n = 1203). Patients with CHC genotype 3 (n = 931), who were treated with either Sofosbuvir 400 mg plus weight-based Ribavirin, daily ×24 weeks (n = 432) (dual therapy), or Peginterferon-α2a 180 mcg weekly, Sofosbuvir 400 mg plus weight-based Ribavirin, daily ×12 weeks (n = 499) (triple therapy) were included for analysis. Primary outcome was the proportion of patients achieving sustained viral response at 12 weeks post-therapy., Results: The overall SVR rates were 91 and 92% in the dual and triple therapy arms, respectively. The SVR rates in treatment experienced were 67 and 74% versus 93 and 96% in naïve patients, on the dual and triple therapy arms, respectively. The SVR rates of cirrhotics were 73 and 75% on the dual and triple treatment arms, respectively. The SVR rates were low in the experienced cirrhotic patients: 44% (dual therapy) and 58% (triple therapy). Common adverse events were fatigue, headache, and myalgia., Conclusion: Both dual and triple therapy regimes resulted in SVR rates of >95% in CHC genotype 3 who were naive non-cirrhotics. However, the SVR rates were low in treatment-experienced cirrhotics.

Severe alcoholic hepatitis (SAH) is defined by modified Maddrey discriminant function ≥32 or Model for End-Stage Liver Disease (MELD) >21 and/or hepatic encephalopathy. It has a 3-month mortality rate ≥30-70 %. Patients with severe alcoholic hepatitis need combined, i.e., static (MELD score) and dynamic (Lille's score), prognostication. Systemic inflammation and poor regeneration are hallmarks of SAH, rather than intrahepatic inflammation. SAH is characterized by dysregulated and uncontrolled systemic inflammatory response followed by weak compensatory antiinflammatory response that leads to increased susceptibility to infection and multiple organ failure. Massive necrosis of hepatocytes exceeds the proliferative capacity of hepatocytes. Liver progenitor cells proliferate to form narrow ductules which radiate out into the damaged liver parenchyma. Corticosteroids have been the standard-of-care therapy, albeit controversial. However, the recent Steroids or Pentoxifylline for Alcoholic Hepatitis (STOPAH) trial revealed that prednisolone was not associated with a significant reduction in 28-day mortality, with no improvement in outcomes at 90 days or 1 year. A paradigm shift from antiinflammatory therapy such as corticosteroids to liver regeneration treatment, e.g., granulocyte-colony stimulating factor, molecular targeted treatments, and fecal microbiota transplantation, for severe alcoholic hepatitis is taking place. Liver transplantation should be offered to select patients with severe alcoholic hepatitis who are nonresponsive to medical treatment.

Introduction: Minimal hepatic encephalopathy (MHE) can reverse after short-term treatment. However, relapse rate of MHE after stopping treatment has not been studied so far. We aimed to evaluate long-term (9 months) efficacy of a short-term (3 months) treatment of MHE with lactulose/rifaximin, for maintenance of remission from MHE., Material and Methods: In this prospective study, consecutive patients with cirrhosis and MHE were treated with lactulose/rifaximin for 3 months. After treatment, they were followed up for 6 months. Psychometric testing for diagnosis of MHE was performed at baseline, 3 months and 9 months., Results: Of the 527 patients screened, 351 were found eligible and tested for MHE. Out of these, 112 (31.9%) patients had MHE (mean age 55.3 years; 75% males). They were randomized to receive Rifaximin (n = 57; 1,200 mg/day) or Lactulose (n = 55; 30-120 mL/day) for three months. At 3 months, 73.7% (42/57) patients in Rifaximin group experienced MHE reversal compared to 69.1% (38/55) in Lactulose group (p = 0.677). Six months after stopping treatment, 47.6% (20/42) in rifaximin group and 42.1% (16/38) patients in lactulose group experienced MHE relapse (p = 0.274). The overt hepatic encephalopathy development rate (7.1% vs. 7.9%) and mortality rate (0.23% vs. 0%) were similar in both groups. The Child-Turcotte-Pugh score and model for end stage liver disease (MELD) scores of patients who had MHE relapse were higher compared to those who didn't. On multivariate regression analysis, MELD score was an independent predictor of MHE relapse., Conclusion: Of the patients who became MHE negative after short-term (3 months) treatment with rifaximin/lactulose, almost 50% had a relapse of MHE at 6 months follow-up.

Background & Aims: Lactulose and rifaximin have already been shown to improve both cognitive functions and health related quality of life (HRQOL) in MHE patients. We aimed to compare the efficacy of rifaximin with lactulose in reversal of MHE and improvement in HRQOL in cirrhotic patients with MHE., Method: This prospective, randomized, open label, non-inferiority trial, was conducted at the Gastroenterology department of a tertiary care institute in Northern India. MHE was diagnosed if any two of the five neuro-psychometric (NP) tests were positive. HRQOL was assessed using the sickness impact profile (SIP) questionnaire (John Hopkins University, USA)., Results: Of 527 cirrhotics screened, 351 were found eligible and tested for MHE. A total of 112 (31.9%) patients were found to have MHE and then randomized into two groups group A (lactulose; 30-120 ml/day) and B (Tablet. rifaximin; 400 mg thrice a day). Based on the intention-to-treat population, the proportion of patients with MHE reversal at 3 months was 73.7% (42/57) in the rifaximin arm and 69.1% (38/55) in the lactulose arm [4.6% difference (90% CI -9.3% to 18.4%)]. However, non-inferiority of rifaximin over lactulose could not be established as the pre-specified non-inferiority margin (-5%) lies within the two-sided 90% confidence interval of the difference. HRQOL was significantly improved in both groups (P = 0.20). However, the proportion of patients with flatulence (P = 0.004) and diarrhoea (P = 0.0002) was significantly higher in patients who took lactulose., Conclusion: Non-inferiority of rifaximin over lactulose for MHE reversal was not established., (© 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)