Clinical characteristics and genetic profile of children with WDR72-associated distal renal tubular acidosis: a nationwide experience.

BACKGROUND: Limited data, primarily from small case series, exist regarding the clinical profile, genetic variants, and outcomes of WDR72-associated distal renal tubular acidosis (WDR72-dRTA). METHODS: Our study enrolled children diagnosed with WDR72-dRTA below 18 years of age from 9 Indian centers and analyzed their clinical characteristics, genetic profiles, and outcomes. Potential genotype-phenotype correlations were explored. RESULTS: We report 22 patients (59% female) with WDR72-dRTA who were diagnosed at a median age of 5.3 (3, 8) years with polyuria (n = 17; 77.3%), poor growth (16; 72.7%), and rickets (9; 40.9%). Amelogenesis imperfecta was present in 21 (95.5%) cases. At presentation, all patients had normal anion gap metabolic acidosis; hypokalemia and nephrocalcinosis were seen in 17 (77.3%) patients each. Seven (31.8%) patients had concomitant proximal tubular dysfunction. Genetic analysis identified biallelic nonsense variants in 18 (81.8%) patients, including novel variants in 6 cases. A previously reported variant, c.88C > T, and a novel variant, c.655C > T, were the most frequent variants, accounting for 10 (45.5%) cases. Over a median follow-up of 1.3 (1, 8) years, the height velocity improved by 0.74 (0.2, 1.2) standard deviation scores, while 3 children (13.6%) progressed to chronic kidney disease (CKD) stage 2, with eGFR ranging from 67 to 76 mL/min/1.73 m2, respectively, after 11.3-16 years of follow-up. No specific genotype-phenotype correlation could be established. CONCLUSIONS: WDR72-dRTA should be considered in children with typical features of amelogenesis imperfecta and dRTA. Biallelic nonsense variants are common in Asians. While most patients respond well to treatment with improved growth and preserved eGFR, on long-term follow-up, a decline in eGFR may occur.

How effective is nephrectomy in curing hypertension in children with unilateral poorly functioning kidney? A systematic review.

PURPOSE: Some children with hypertension (HTN) have unilateral poorly functional kidney (PFK). This provides an opportunity for the clinician to cure the HTN by removal of the PFK, thereby avoiding the problems of long-term medication. However, there is sparse data in children regarding the effect of PFK nephrectomy on curing HTN. In this review, we analysed the etiology of PFK causing HTN and the effectiveness of nephrectomy in curing HTN in children. METHODS: We searched the databases to identify papers between January 2000 to December 2020 pertaining to children with PFK and HTN who underwent nephrectomy. Outcome analyzed was the resolution of HTN following nephrectomy. Duplicate publications, review articles and incomplete articles were excluded. Meta-analysis of heterogeneity was reported with I2statistics. Forest plot was constructed to compare the pooled prevalence of HTN resolution. RESULTS: Five articles with 88 patients were included. Majority (43%) of PFK were due to the unilateral atrophic kidney with or without vesicoureteral reflux (VUR); ureteropelvic junction obstruction and multicystic dysplastic kidney together accounted for 35% of cases and renovascular pathology for 22% of cases. With a follow-up of 1.5 to 3.3 years, nephrectomy was effective to cure HTN in 65.9% (95% CI 55-75%) children. CONCLUSIONS: In children with HTN and a unilateral PFK, nephrectomy cured the HTN in two-thirds of children. Unilateral atrophic kidney due to VUR was the most common cause of PFK. An increase in the utilisation of laparoscopy was observed in recent publications, hence laparoscopic nephrectomy may be considered a first choice of treatment in these children.

Common treatment strategies for calcium hydroxyapatite deposition disease: a cost-effectiveness analysis.

OBJECTIVE: To determine the cost-effectiveness of rotator cuff hydroxyapatite deposition disease (HADD) treatments. METHOD: A 1-year time horizon decision analytic model was created from the US healthcare system perspective for a 52-year-old female with shoulder HADD failing conservative management. The model evaluated the incremental cost-effectiveness ratio (ICER) and net monetary benefit (NMB) of standard strategies, including conservative management, ultrasound-guided barbotage (UGB), high- and low-energy extracorporeal shock wave therapy (ECSW), and surgery. The primary effectiveness outcome was quality-adjusted life years (QALY). Costs were estimated in 2022 US dollars. The willingness-to-pay (WTP) threshold was $100,000. RESULTS: For the base case, UGB was the preferred strategy (0.9725 QALY, total cost, $2199.35, NMB, $95,048.45, and ICER, $33,992.99), with conservative management (0.9670 QALY, NMB $94,688.83) a reasonable alternative. High-energy ECSW (0.9837 QALY, NMB $94,805.72), though most effective, had an ICER of $121, 558.90, surpassing the WTP threshold. Surgery (0.9532 QALY, NMB $92,092.46) and low-energy ECSW (0.9287 QALY, NMB $87,881.20) were each dominated. Sensitivity analysis demonstrated that high-energy ECSW would become the favored strategy when its cost was < $2905.66, and conservative management was favored when the cost was < $990.34. Probabilistic sensitivity analysis supported the base case results, with UGB preferred in 43% of simulations, high-energy ECSW in 36%, conservative management in 20%, and low-energy ECSW and surgery in < 1%. CONCLUSION: UGB appears to be the most cost-effective strategy for patients with HADD, while surgery and low-energy ECSW are the least cost-effective. Conservative management may be considered a reasonable alternative treatment strategy in the appropriate clinical setting.

Antimicrobial Efficacy of Essential Oils and Their Combination Against Microorganisms Associated With Postradiation Therapy in Patients With Head and Neck Cancer: An In Vitro Study.

Background Head and neck cancer ranks as the sixth most common cancer globally. Reduced saliva production brought on by postradiation therapy upsets the delicate balance between bacterial load and a weakened immune system. Oral hygiene is commonly neglected in patients who have undergone radiotherapy and they often develop dry mouth, mucositis due to radiation therapy, etc., as side effects. Despite being a part of the current standard, chlorhexidine carries numerous disadvantages such as taste alteration, teeth staining, and dry mouth. An extensive review of the literature demonstrates the antibacterial properties of essential oils (EOs) derived from plant materials, which may be able to prevent the development of such opportunistic microorganisms in the oral cavity. Methodology The cinnamon bark EO and Cajeput EO were procured and checked for their solubility. The final ratio at which the oils were found to be soluble was the 1:1 (w/v) ratio. The minimum inhibitory concentration (MIC) of cinnamon bark oil (Cinnamomum verum) and Cajeput oil (Melaleuca leucadendron) against Staphylococcus aureus, Enterococcus faecalis, and Candida albicans was determined by serial dilution method using Resazurin dye, and the minimum bactericidal concentration (MBC) was done by a spread plating method. The polyherbal mouthwash was subjected to cytotoxicity assay against human gingival fibroblasts. All the experiments were performed in triplicates. Results The overall results showed that cinnamon bark EO had the strongest efficacy against S. aureus (0.33 ± 0.14 mg/mL) and E. faecalis (0.41 ± 0.14 mg/mL), but not against C. albicans (2.85 ± 2.11 mg/mL). Cajeput EO showed the least efficacy against all the groups; whereas the combination of EOs proved to be the most efficacious and showed good antimicrobial activity against these most commonly encountered microorganisms in head and neck cancer postradiotherapy. Conclusions Cinnamon and Cajeput EOs in combination proved to be effective in this in vitro study against the most common microorganisms encountered in patients with head and neck cancer postradiotherapy and are comparable to 0.2% chlorhexidine.

Atrial Fibrillation (AFIB) in the ICU: Incidence, Risk Factors, and Outcomes: The International AFIB-ICU Cohort Study.

OBJECTIVES: To assess the incidence, risk factors, and outcomes of atrial fibrillation (AF) in the ICU and to describe current practice in the management of AF. DESIGN: Multicenter, prospective, inception cohort study. SETTING: Forty-four ICUs in 12 countries in four geographical regions. SUBJECTS: Adult, acutely admitted ICU patients without a history of persistent/permanent AF or recent cardiac surgery were enrolled; inception periods were from October 2020 to June 2021. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: We included 1,423 ICU patients and analyzed 1,415 (99.4%), among whom 221 patients had 539 episodes of AF. Most (59%) episodes were diagnosed with continuous electrocardiogram monitoring. The incidence of AF was 15.6% (95% CI, 13.8-17.6), of which newly developed AF was 13.3% (11.5-15.1). A history of arterial hypertension, paroxysmal AF, sepsis, or high disease severity at ICU admission was associated with AF. Used interventions to manage AF were fluid bolus 19% (95% CI 16-23), magnesium 16% (13-20), potassium 15% (12-19), amiodarone 51% (47-55), beta-1 selective blockers 34% (30-38), calcium channel blockers 4% (2-6), digoxin 16% (12-19), and direct current cardioversion in 4% (2-6). Patients with AF had more ischemic, thromboembolic (13.6% vs 7.9%), and severe bleeding events (5.9% vs 2.1%), and higher mortality (41.2% vs 25.2%) than those without AF. The adjusted cause-specific hazard ratio for 90-day mortality by AF was 1.38 (95% CI, 0.95-1.99). CONCLUSIONS: In ICU patients, AF occurred in one of six and was associated with different conditions. AF was associated with worse outcomes while not statistically significantly associated with 90-day mortality in the adjusted analyses. We observed variations in the diagnostic and management strategies for AF.

Knowledge, attitude, and practices toward tobacco control among rural community health care workers of primary subcenters in Belagavi district, Karnataka.

Context: Tobacco is the common cause to a number of illnesses affecting millions of individuals all over the world. Primary care physicians are the initial point of contact for tobacco users, yet reaching everyone is impossible. Therefore, it is important to understand community health workers attitude to render community services in tobacco cessation counseling. Aim: To assess knowledge, attitude, practices, and occupational barriers toward tobacco control among community health care workers in Belagavi district, Karnataka. Settings and Design: This cross-sectional study was conducted in various subcenters of Belagavi district, Karnataka. Methods and Material: Simple random sampling technique was employed and 220 participants were interviewed using an interviewer administered questionnaire comprising of 22 close ended questions. Reliability of the questionnaire assessed with Cronbach's a value of 0.85, face validity 84%, and content validity ratio 0.78. Statistical Analysis Used: The data were analyzed using descriptive analysis, chi square analysis, correlation, and regression. Results: The mean knowledge score among Accredited Social Health Activist (ASHA) workers was 4.77 ± 2.11 and it was lower in Anganwadi workers 2.93 ± 2.55. There was a statistically significant difference in the attitude scores (P < 0.05) between the community health workers. The majority of the ASHA workers would spread awareness, on the other hand, Anganwadi workers did not take any specific step which showed statistically significant difference with a P value of 0.018. Conclusion: ASHA workers had been superior to Anganwadi workers with regard to knowledge and attitude toward tobacco control. However, knowledge regarding tobacco and its ill effects was below optimal level among community health workers which desires to thoroughly educate in the aspects of oral health and disorders as part of their training.

Augmentation cystoplasty in children with stages III and IV chronic kidney disease secondary to neurogenic bladder.

Objective: This study examines the outcome of augmentation cystoplasty (AC) in children with stages III and IV chronic kidney disease (CKD) secondary to neurogenic bladder in which transplantation was not imminent. Methods: Hospital records of all children with CKD stages III and IV who underwent AC between 2008 and 2017 were retrieved to study outcome and complications including estimated glomerular filtration rate (eGFR, National Kidney Foundation Calculator), somatic growth (percentiles, compared with population data), and febrile urinary tract infections (fUTIs) requiring admission. Statistical analysis was performed using R. Results: AC was performed in 13 children with CKD stages III and IV (10 girls; median 8.0 years) with median follow-up of 51 months. Patients had incontinence (10/13), reflux (7/13), and hydronephrosis (13/13) despite antimuscarinics and intermittent catheterization. Bladder capacity was 74% of expected and median compliance was 5 mL/cm H20 (inter-quartile range 4 mL/cm H20). All underwent ileocystoplasty (25 cm bowel). One each had nephrectomy and mitrofanoff conduit. All had resolution of incontinence. One had acute kidney injury that recovered. Initial eGFR at presentation (24 mL/min/1.73 m2) improved with conservative management alone (52 mL/min/1.73 m2, p=0.004). This improved further 1 year following AC (61 mL/min/1.73 m2, p=0.036) with stable function at 7 years. There was improvement in somatic growth, hydronephrosis, and fUTI despite no ureteric re-implantation. Conclusion: AC carries acceptable morbidity in children with CKD stages III and IV secondary to neurogenic bladder. Surgery is effective with improvements in continence, eGFR, somatic growth, and propensity for fUTIs. Ureteric re-implantation might not be necessary.

Corona, Acute Ischemic Stroke, Malignant Cerebral Edema, and Hemo-adsorption: A Case Report.

Background: COVID-19 infection can be associated with systemic hyperinflammation, hypercoagulable state, vasculitis, and cardiomyopathy leading to multiorgan failure. Use of extracorporeal blood purification has been shown to mitigate the cytokine storm, improving hemodynamic stability and pulmonary function. Case summary: We report a case of a young patient with malignant cerebral edema due to acute cerebrovascular accident, with COVID-19. He was taken up for life-saving decompression craniotomy amidst the cytokine storm and multiorgan failure, and was treated with steroids, antibiotics, and Cytosorb® therapy for the cytokine storm. IL-6 and PCT levels were reduced by 99.5 and 98.6%, respectively. Vasopressors were stopped on day 4 and successfully weaned off ventilator support by 2 weeks of tracheostomy. He was de-cannulated and discharged neurologically stable on day 32. Conclusion: Timely detection of COVID-19 and anti-inflammatory and hemo-adsorption measures may be helpful in modulating cytokine storm, thereby reducing morbidity and mortality. How to cite this article: Shah M, Kaidawala Z, Shah A, Desphande R. Corona, Acute Ischemic Stroke, Malignant Cerebral Edema, and Hemo-adsorption: A Case Report. Indian J Crit Care Med 2022;26(2):235-238.

Clinical profile and outcome of ocular manifestation in Marfans syndrome in India.

PURPOSE: Marfan syndrome (MFS) is a genetic disorder associated with considerable morbidity and mortality. Presently, well-documented information on this condition is not available in India. METHODS: In this retrospective cohort study, we recruited patients with clinically diagnosed MFS who presented to the outpatient department using revised Ghent nosology. We retrieved complete ophthalmic information, including vision, anterior and posterior segments, exported from electronic medical records, and relevant investigations, surgical details, and follow-up data were obtained in a specific, pretested format. RESULTS: Our cohort consisted of 86 eyes of 43 patients and had a male preponderance. The prevalence was 20.5 per 100,000 individuals. The mean age of the patients was 23.9 years. All eyes were treated either optically with refraction or surgically using lensectomy and vitrectomy with suture supported scleral fixated intraocular lens (IOL), which significantly affected the visual outcome (P = 0.000). CONCLUSION: Although considered a rare disease, MFS is commonly found in the ophthalmological setting. Refraction and surgery (lensectomy with scleral fixated IOL) may improve the vision significantly.

Innovative cost-effective method to repair lacrimal cannaliculi laceration - finding proximal end and stent.

Purpose: To explore a new technique to find out the proximal end of lacerated canaliculi and a new material for the stent. Methods: Surgery was performed on 9 eyes of 9 patients using a 5/0 prolene suture needle as a modified probe. Prolene suture was inserted as a stent and left in place for two months. All the data were analyzed. Results: The surgery was successful in all cases and the prolene were removed after two months. The mean follow-up time after the tube removal was 3.8 months (range 3-6 months). No other complications associated with the prolene sutures were noticed except for epiphora and corneal irritation in three cases. All the tubes were removed successfully without any difficulty. No iatrogenic injuries occurred during prolene removal. Conclusions: The reported surgical technique is a very cost-effective option for lacrimal canalicular laceration repair.

Comparative study of visual outcome between open- and closed-globe injuries following surgical treatment of traumatic cataract in children.

OBJECTIVE: To compare final visual outcomes of surgically treated traumatic cataract between open-globe and closed-globe injuries in children, as classified by the Birmingham Eye Trauma Terminology system. METHODS: This is an observational cohort study with permission from Hospital Ethical Committee. We enrolled children meeting specific inclusion criteria, examined their eyes to review any co-morbidities due to trauma, performed surgery for traumatic cataracts, and implanted lenses. The patients were re-examined postoperatively. We classified the cases of traumatic cataract as either open-globe (Group 1) or closed-globe (Group 2) according to the Birmingham Eye Trauma Terminology system and compared visual acuity. RESULT: Our study cohort of 1076 eyes with traumatic cataracts included 405 eyes in Group 1 and 671 in Group 2. Postoperatively, the visual acuity was >20/60 in 223 (55.3%) and 377 (56.3%) operated eyes in Groups 1 and 2, respectively ( p < 0.001, analysis of variance). With further follow-up, >20/60 vision was significantly higher in Group 2 as compared to Group 1 (odds ratio = 1.61; 95% confidence interval = 0.85-3.02). Overall, 600 eyes (55.7%) regained final visual acuity >20/60. CONCLUSION: Closed-globe injury has more favourable prognosis for the satisfactory (>20/60) visual recovery after effective management of traumatic cataracts in children.

Pediatric ocular trauma score as a prognostic tool in the management of pediatric traumatic cataracts.

OBJECTIVE: To introduce and validate the pediatric ocular trauma score (POTS) - a mathematical model to predict visual outcome trauma in children with traumatic cataract METHODS: In this retrospective cohort study, medical records of consecutive children with traumatic cataracts aged 18 and below were retrieved and analysed. Data collected included age, gender, visual acuity, anterior segment and posterior segment findings, nature of surgery, treatment for amblyopia, follow-up, and final outcome was recorded on a precoded data information sheet. POTS was derived based on the ocular trauma score (OTS), adjusting for age of patient and location of the injury. Visual outcome was predicted using the OTS and the POTS and using receiver operating characteristic (ROC) curves. RESULTS: POTS predicted outcomes were more accurate compared to that of OTS (p = 0.014). CONCLUSION: POTS is a more sensitive and specific score with more accurate predicted outcomes compared to OTS, and is a viable tool to predict visual outcomes of pediatric ocular trauma with traumatic cataract.

Synovial Hemangioma Presenting as a Painful Locked Knee A Case Report.

A 39-year-old man presented to orthopaedic care with a painful, fully locked knee. Workup revealed free intraarticular nodules, which were subsequently arthroscopically removed and identified to be synovial hemangioma. To the investigators' knowledge, this is the second reported case of synovial hemangioma presenting as a painful, definitively locked knee. Synovial hemangioma should be considered in the differential diagnosis of knee pain, particularly after more common diagnoses have been ruled out. Efficient and appropriate diagnosis and treatment may result in favorable patient outcomes and avoid long-term disability and dysfunction.

Spontaneous dislocation of lens bag with acrylic lens after uneventful cataract surgery - unusual complication of cataract surgery.

INTRODUCTION: Spontaneous dislocation of intraocular lens with bag is rare. METHODS: We report a case of a 56-year-old male who presented with spontaneous anterior dislocation of an in-the-bag intraocular lens 3 years after manual small incision cataract surgery. He had undergone manual small incision cataract surgery with foldable acrylic intraocular lens implantation, and 18 months after cataract surgery ND: YAG capsulotomy with uneventful post capsulotomy follow-up. 17 months after capsulotomy, the patient presented with sudden decrease of vision. On anterior segment examination, the intraocular lens with bag was dislocated into the anterior chamber. RESULT: It was managed with intraocular lens explantation with bag, anterior vitrectomy and sclera fixated intraocular lens. CONCLUSION: Spontaneous intraocular lens dislocation with bag is possible after 1.5 years of uneventful surgery which may be managed using different techniques.

Lens siderosis resulting from a small intralenticular metallic foreign body.

We report a rare case of lens siderosis with an undetectable intraocular foreign body by imaging. An 8-year-old boy presented with diminution of vision in the left eye since 3 months. His parents gave a preceding uncertain history of a foreign body injury to his left eye 3 months ago while playing. Presenting visual acuity in the left eye was perception of hand movements. Slit-lamp examination revealed a total white cataract with brownish-pigmented spots on the anterior capsule of the lens, but no intraocular foreign body was found. There was also no evidence of an intraocular foreign body on ultrasonography. Patient underwent cataract extraction with intraocular lens implantation. During the operation, a small (2×1×1 mm in size) intralenticular foreign body of metal material was found and removed carefully with a magnet. The patient regained 20/30 vision after surgery.

The utility of plain radiographs in the initial evaluation of knee pain amongst sports medicine patients.

PURPOSE: To evaluate whether screening radiographs as part of the initial workup of knee pain impacts clinical decision-making in a sports medicine practice. METHODS: A questionnaire was completed by the attending orthopaedic surgeon following the initial office visit for 499 consecutive patients presenting to the sports medicine centre with a chief complaint of knee pain. The questionnaire documented patient age, duration of symptoms, location of knee pain, associated mechanical symptoms, history of trauma within the past 2 weeks, positive findings on plain radiographs, whether magnetic resonance imaging was ordered, and whether plain radiographs impacted the management decisions for the patient. Patients were excluded if they had prior X-rays, history of malignancy, ongoing pregnancy, constitutional symptoms as well as those patients with prior knee surgery or intra-articular infections. Statistical analyses were then performed to determine which factors were more likely do correspond with diagnostic radiographs. RESULTS: Overall, initial screening radiographs did not change management in 72 % of the patients assessed in the office. The mean age of patients in whom radiographs did change management was 57.9 years compared to 37.1 years in those patients where plain radiograph did not change management (p < 0.0001). Plain radiographs had no impact on clinical management in 97.3 % of patients younger than 40. In patients whom radiographs did change management, radiographs were more likely to influence management if patients were over age forty, had pain for over 6 months, had medial or diffuse pain, or had mechanical symptoms. A basic cost analysis revealed that the cost of a clinically useful radiographic series in a patient under 40 years of age was $7,600, in contrast to $413 for a useful series in patients above the age of 40. CONCLUSION: Data from the current study support the hypothesis that for the younger patient population, routine radiographic imaging as a screening tool may be of little clinical benefit. Factors supporting obtaining screening radiographs include age greater than 40, knee pain for greater than 6 months, the presence of medial or diffuse knee pain, and the presence of mechanical symptoms. LEVEL OF EVIDENCE: II.

Ectopic intraocular lens: an unusual complication of cataract surgery.

We wish to report an unusual complication of intraocular lens (IOL) insertion following uneventful phacoemulsification. After successful phacoemulsification surgery, a hydrophobic acrylic IOL was loaded in the injector for insertion into the capsular bag. During insertion, the IOL inadvertently extended into the corneal stromal lamella. The complication was recognized at a late stage, and the foldable acrylic lens was retrieved and reinserted correctly in the bag. The anterior chamber was made viscoelastically taut and was maintained in this state for 10 min, followed by a routine viscoelastic wash and air bubble injection. Cornea was slightly edematous with stromal haze, and the corneal thickness was 908 µm. At the 1-month follow-up visit, the patient's vision was 20/40, the stromal haze had subsided, the corneal thickness was 572 µm, and the patient was comfortable. Though it was unknown complication, following proper management patient recovered satisfactorily.