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BACKGROUND: Rare disorders comprise of ~ 7500 different conditions affecting multiple systems. Diagnosis of rare diseases is complex due to dearth of specialized medical professionals, testing labs and limited therapeutic options. There is scarcity of data on the prevalence of rare diseases in different populations. India being home to a large population comprising of 4600 population groups, of which several thousand are endogamous, is likely to have a high burden of rare diseases. The present study provides a retrospective overview of a cohort of patients with rare genetic diseases identified at a tertiary genetic test centre in India. RESULTS: Overall, 3294 patients with 305 rare diseases were identified in the present study cohort. These were categorized into 14 disease groups based on the major organ/ organ system affected. Highest number of rare diseases (D = 149/305, 48.9%) were identified in the neuromuscular and neurodevelopmental (NMND) group followed by inborn errors of metabolism (IEM) (D = 47/305; 15.4%). Majority patients in the present cohort (N = 1992, 61%) were diagnosed under IEM group, of which Gaucher disease constituted maximum cases (N = 224, 11.2%). Under the NMND group, Duchenne muscular dystrophy (N = 291/885, 32.9%), trinucleotide repeat expansion disorders (N = 242/885; 27.3%) and spinal muscular atrophy (N = 141/885, 15.9%) were the most common. Majority cases of ß-thalassemia (N = 120/149, 80.5%) and cystic fibrosis (N = 74/75, 98.7%) under the haematological and pulmonary groups were observed, respectively. Founder variants were identified for Tay-Sachs disease and mucopolysaccharidosis IVA diseases. Recurrent variants for Gaucher disease (GBA:c.1448T > C), ß-thalassemia (HBB:c.92.+5G > C), non-syndromic hearing loss (GJB2:c.71G > A), albinism (TYR:c.832 C > T), congenital adrenal hyperplasia (CYP21A2:c.29-13 C > G) and progressive pseudo rheumatoid dysplasia (CCN6:c.298T > A) were observed in the present study. CONCLUSION: The present retrospective study of rare disease patients diagnosed at a tertiary genetic test centre provides first insight into the distribution of rare genetic diseases across the country. This information will likely aid in drafting future health policies, including newborn screening programs, development of target specific panel for affordable diagnosis of rare diseases and eventually build a platform for devising novel treatment strategies for rare diseases.
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Doenças Raras , Humanos , Índia/epidemiologia , Doenças Raras/genética , Estudos Retrospectivos , Masculino , Feminino , Centros de Atenção Terciária , Criança , Adulto , Adolescente , Pré-Escolar , Adulto Jovem , LactenteRESUMO
OBJECTIVES: We describe the development of 3D-printed stents using our digital workflow and their effects on patients enrolled in the lead-in phase of a multi-center, randomized Phase-II trial. MATERIALS AND METHODS: Digital dental models were created for patients using intraoral scanning. Digital processes were implemented to develop the mouth-opening, tongue-depressing, and tongue-lateralizing stents using stereolithography. Time spent and material 3D-printing costs were measured. Physicians assessed mucositis using the Oral Mucositis Assessment Scale (OMAS) and collected MD Anderson Symptom Inventory (MDASI) reports and adverse events (AEs) from patients at various time points (TPs). OMAS and MDASI results were evaluated using paired t-test analysis. RESULTS: 18 patients enrolled into the lead-in phase across 6 independent clinical sites in the USA. 15 patients received stents (average design and fabrication time, 8 h; average material 3D-printing cost, 11 USD). 10 eligible patients with complete OMAS and MDASI reports across all TPs were assessed. OMAS increased significantly from baseline to week 3 of treatment (mean difference = 0.34; 95 % CI, 0.09-0.60; p = 0.01). MDASI increased significantly from baseline to week 3 of treatment (mean difference = 1.02; 95 % CI, 0.40-1.70; p = 0.005), and week 3 of treatment to end of treatment (mean difference = 1.90; 95 % CI, 0.90-2.92; p = 0.002). AEs (grades 1-3) were reported by patients across TPs. Mucositis and radiation dermatitis were primarily attributed to chemoradiation. CONCLUSIONS: 3D-printed stents were successfully fabricated and well tolerated by patients. As patients enroll in the randomized phase of this trial, data herein will establish a baseline for comparative analysis.
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Neoplasias de Cabeça e Pescoço , Impressão Tridimensional , Stents , Fluxo de Trabalho , Humanos , Stents/efeitos adversos , Neoplasias de Cabeça e Pescoço/radioterapia , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Estomatite/etiologia , AdultoRESUMO
PURPOSE: To study choroidal vascularity changes in active and inactive TED orbits by using high-definition optical coherence tomography (HD-OCT) and correlate the changes with the duration and severity of TED and Barrets' index. METHODS: A cross-sectional study wherein 37 TED orbits and 30 healthy control (HC) orbits were enrolled. Choroid was imaged using HD-OCT scans centered at the fovea, and subfoveal choroidal thickness (SFCT) was measured. The OCT images were analyzed using ImageJ software to calculate choroidal vascularity index (CVI) and associated choroidal perfusion indices. RESULTS: The study included eight active, 13 non-inflammatory active (NIA), and 16 inactive TED orbits. The mean age was 39.73 ± 12.91 years, and the male: female ratio was 1.18:1. Intraocular pressure and CVI were higher, while SFCT was similar in TED on comparison to healthy orbits. CVI and SFCT were raised in active as compared to inactive TED. CVI and SFCT correlated positively with Barrets' index and negatively with the duration of thyroid disease. The area under curve of CVI (95% CI: 0.651-0.864, P < 0.001) helped in differentiating TED orbits from HC, while CVI (95% CI: 0.780-0.983, P < 0.001) had the maximum discriminatory power in predicting the activity of disease. CONCLUSIONS: CVI has greater sensitivity than SFCT in differentiating healthy from TED orbits. The blood flow stagnation in active orbits, which improves during the course of TED and tends to worsen with increase in Barret's index, can lead to choroidal vascularity changes. CVI and SFCT can act as adjunct to existing modalities for monitoring the disease activity.
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BACKGROUND: Current fiducial markers (FMs) in external-beam radiotherapy (EBRT) for prostate cancer (PCa) cannot be positively visualized on magnetic resonance imaging (MRI) and create dose perturbation and significant imaging artifacts on computed tomography (CT) and MRI. We report our initial experience with clinical imaging of a novel multimodality FM, NOVA. METHODS: We tested Gold Anchor [G-FM], BiomarC [carbon, C-FM], and NOVA FMs in phantoms imaged with kilovoltage (kV) X-rays, transrectal ultrasound (TRUS), CT, and MRI. Artifacts of the FMs on CT were quantified by the relative streak artifacts level (rSAL) metric. Proton dose perturbations (PDPs) were measured with Gafchromic EBT3 film, with FMs oriented either perpendicular to or parallel with the beam axis. We also tested the performance of NOVA-FMs in a patient. RESULTS: NOVA-FMs were positively visualized on all 4 imaging modalities tested. The rSAL on CT was 0.750 ± 0.335 for 2-mm reconstructed slices. In F-tests, PDP was associated with marker type and depth of measurement (p < 10-6); at 5-mm depth, PDP was significantly greater for the G-FM (12.9%, p = 10-6) and C-FM (6.0%, p = 0.011) than NOVA (4.5%). EBRT planning with MRI/CT image co-registration and daily alignments using NOVA-FMs in a patient was feasible and reproducible. CONCLUSIONS: NOVA-FMs were positively visible and produced less PDP than G-FMs or C-FMs. NOVA-FMs facilitated MRI/CT fusion and identification of regions of interest.
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PURPOSE: Clinical efficiency is a key component of value-based health care. Our objective here was to identify workflow inefficiencies by using time-driven activity-based costing (TDABC) and evaluate the implementation of a new clinical workflow in high-volume outpatient radiation oncology clinics. METHODS: Our quality improvement study was conducted with the Departments of GI, Genitourinary (GU), and Thoracic Radiation Oncology at a large academic cancer center and four community network sites. TDABC was used to create process maps and optimize workflow for outpatient consults. Patient encounter metrics were captured with a real-time status function in the electronic medical record. Time metrics were compared using Mann-Whitney U tests. RESULTS: Individual patient encounter data for 1,328 consults before the intervention and 1,234 afterward across all sections were included. The median overall cycle time was reduced by 21% in GI (19 minutes), 18% in GU (16 minutes), and 12% at the community sites (9 minutes). The median financial savings per consult were $52 in US dollars (USD) for the GI, $33 USD for GU, $30 USD for thoracic, and $42 USD for the community sites. Patient satisfaction surveys (from 127 of 228 patients) showed that 99% of patients reported that their providers spent adequate time with them and 91% reported being seen by a care provider in a timely manner. CONCLUSION: TDABC can effectively identify opportunities to improve clinical efficiency. Implementing workflow changes on the basis of our findings led to substantial reductions in overall encounter cycle times across several departments, as well as high patient satisfaction and significant financial savings.
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Pacientes Ambulatoriais , Radioterapia (Especialidade) , Fluxo de Trabalho , Humanos , Radioterapia (Especialidade)/economia , Radioterapia (Especialidade)/métodos , Radioterapia (Especialidade)/normas , Masculino , Feminino , Encaminhamento e Consulta , Pessoa de Meia-IdadeRESUMO
BACKGROUND: India accounts for 13.3% of global disability-adjusted life years (DALYs) lost due to stroke with a relatively younger age of onset compared to the Western population. In India's public healthcare system, many stroke patients seek care at tertiary-level government-funded medical colleges where an optimal level of stroke care is expected. However, there are no studies from India that have assessed the quality of stroke care, including infrastructure, imaging facilities, or the availability of stroke care units in medical colleges. AIM: This study aimed to understand the existing protocols and management of acute stroke care across 22 medical colleges in India, as part of the baseline assessment of the ongoing IMPETUS stroke study. METHODS: A semi-structured quantitative pre-tested questionnaire, developed based on review of literature and expert discussion, was mailed to 22 participating sites of the IMPETUS stroke study. The questionnaire assessed comprehensively all components of stroke care, including human resources, emergency system, in-hospital care, and secondary prevention. A descriptive analysis of their status was undertaken. RESULTS: In the emergency services, limited stroke helpline numbers, 3/22 (14%); prenotification system, 5/22 (23%); and stroke-trained physicians were available, 6/22 (27%). One-third of hospitals did not have on-call neurologists. Although non-contrast computed tomography (NCCT) was always available, 39% of hospitals were not doing computed tomography (CT) angiography and 13/22 (59%) were not doing magnetic resonance imaging (MRI) after routine working hours. Intravenous thrombolysis was being done in 20/22 (91%) hospitals, but 36% of hospitals did not provide it free of cost. Endovascular therapy was available only in 6/22 (27%) hospitals. The study highlighted the scarcity of multidisciplinary stroke teams, 8/22 (36%), and stroke units, 7/22 (32%). Lifesaving surgeries like hematoma evacuation, 11/22 (50%), and decompressive craniectomy, 9/22 (41%), were performed in limited numbers. The availability of occupational therapists, speech therapists, and cognitive rehabilitation was minimal. CONCLUSION: This study highlighted the current status of acute stroke management in publicly funded tertiary care hospitals. Lack of prenotification, limited number of stroke-trained physicians and neurosurgeons, relatively lesser provision of free thrombolytic agents, limited stroke units, and lack of rehabilitation services are areas needing urgent attention by policymakers and creation of sustainable education models for uniform stroke care by medical professionals across the country.
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Acidente Vascular Cerebral , Humanos , Acidente Vascular Cerebral/epidemiologia , Acidente Vascular Cerebral/terapia , Fluxo de Trabalho , Procedimentos Clínicos , Hospitais , Atenção à SaúdeRESUMO
PURPOSE: To evaluate the association between meibomian gland dysfunction (MGD) and primary chronic dacryocystitis (PCD) and the effect of dacryocystorhinostomy (DCR) on tear film stability and MGD. METHODS: This prospective, interventional, non-randomized study involved 50 unilateral acquired PCD cases and 50 age-matched healthy controls. Patients with lid abnormalities, ocular trauma, previous ocular surgery, contact lens wearers, and chronic topical or systemic drug users were excluded from the study. After a detailed history, the ocular surface disease index (OSDI) was calculated. The ocular assessment included visual acuity, tear meniscus height (TMH), tear break-up time (TBUT), tear well diameter (TWD), Schirmer 1 test, meibomian gland (MG) expressibility, and meibography. PCD eyes underwent external DCR, and the tests were repeated after 8 weeks. RESULTS: The mean age of PCD cases was 42.58 ± 12.74 years, the male: female ratio was 7:19, and the mean duration of epiphora was 2.2 ± 1 years. The MG expressibility grade of ≥2 was seen in 98% (49/50) PCD eyes, which was strongly associated with PCD as compared to controls (OR = 563, P = 0.00, 95% CI = 60.71-5229.70). MG loss ≥50% was seen in 62% (31/50) of PCD eyes and none of the control eyes. Following DCR, MG loss remained unchanged, and a significant decrease occurred in OSDI scores, TWD and Schirmer 1 values, and MG expressibility grade (Z = -6.85). The mean TMH decreased from 767.60 ± 331.60 µm to 384 ± 204.29 µm ( P = 0.004) post DCR. CONCLUSIONS: PCD is strongly associated with MGD. DCR reverses the functional MG changes with improvement in the tear film stability but no effect on MG loss.
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Dacriocistite , Síndromes do Olho Seco , Doenças Palpebrais , Disfunção da Glândula Tarsal , Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Doenças Palpebrais/diagnóstico , Doenças Palpebrais/etiologia , Estudos Prospectivos , Glândulas Tarsais/diagnóstico por imagem , Dacriocistite/complicações , Dacriocistite/diagnóstico , LágrimasRESUMO
PURPOSE: We aim to report the natural course of non-center involving diabetic macular edema (NCIDME) progression to center involving diabetic macular edema (CIDME) and associated risk factors. METHODS: This is a multicenter retrospective comparative study. Data was collected from electronic medical records from 8 centers in India covering. We included patients with type 2 diabetes above 18 years of age with treatment-naïve NCIDME on OCT and best-corrected visual acuity at baseline of 6/12 or better who were under observation for NCIDME and had 2 years follow-up data. RESULTS: Out of 72 patients with NCIDME, 26.38% patients progressed to CI DME by 2 years, and the visit wise proportion was 11.11% at 6 months, 7% at 1st year and 8.3% at 2 years. The change in CST was statistically significant at 2 years in patients who developed CIDME, the mean difference was 137.73 ± 48.56 microns p = 0.045. Duration of diabetes mellitus > 10 years was the only risk factor for conversion to CIDME. CONCLUSION: A quarter of eyes with NCIDME developed CIDME and 15% progressed from NPDR to PDR by 2 years, highlighting the disease burden in these patients with NCIDME.
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Diabetes Mellitus Tipo 2 , Retinopatia Diabética , Edema Macular , Humanos , Pré-Escolar , Edema Macular/diagnóstico , Edema Macular/etiologia , Edema Macular/tratamento farmacológico , Retinopatia Diabética/complicações , Retinopatia Diabética/diagnóstico , Retinopatia Diabética/epidemiologia , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/epidemiologia , Estudos Retrospectivos , Tomografia de Coerência Óptica , Acuidade Visual , Injeções IntravítreasRESUMO
Stereotactic radiation therapy yields high rates of local control for brain metastases, but patients in rural or suburban areas face geographic and socioeconomic barriers to its access. We conducted a phase II clinical trial of frameless, fractionated stereotactic radiation therapy for brain metastases in an integrated academic satellite network for patients 18 years of age or older with 4 or fewer brain metastases. Dose was based on gross tumor volume: less than 3.0 cm, 27 Gy in 3 fractions and 3.0 to 3.9 cm, 30 Gy in 5 fractions. Median follow-up was 10 months for 73 evaluable patients, with a median age of 68 years. Median intracranial progression-free survival was 7.1 months (95% confidence interval = 5.3 to not reached), and median survival was 7.2 months (95% confidence interval = 5.4 to not reached); there were no serious adverse events. Outcomes of this trial compare favorably with contemporary trials, and this treatment strategy provides opportunities to expand stereotactic radiation therapy access to underserved populations.
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Neoplasias Encefálicas , Radiocirurgia , Adolescente , Adulto , Idoso , Humanos , Neoplasias Encefálicas/radioterapia , Resultado do TratamentoRESUMO
CASE: Two-and-a-half-month-old boy, a known case of brachial plexus birth injury, sustained proximal humeral diaphyseal fracture. Fracture healed in varus malunion and failed to remodel subsequently. Challenges were faced in the course of the management because of progression of the deformity. Finally, the fracture united after rigid internal fixation performed at 2.5 years. CONCLUSION: Neuromuscular imbalance can lead to angular deformity at fracture site and cause unpredictable remodeling, as in our case. Conservative management may fail to achieve union with satisfactory alignment. Rigid internal fixation should be considered in such cases to achieve union.
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Traumatismos do Nascimento , Plexo Braquial , Fraturas do Úmero , Fraturas do Ombro , Masculino , Humanos , Lactente , Fraturas do Úmero/complicações , Fraturas do Úmero/cirurgia , Úmero/cirurgia , Ombro , Fraturas do Ombro/complicações , Fraturas do Ombro/cirurgia , Traumatismos do Nascimento/complicaçõesRESUMO
CASE: A 9-day-old male neonate presented with swelling over his left shoulder and reduced movements of the left upper extremity since birth. Radiographs raised a suspicion of a shoulder dislocation. Ultrasonography confirmed the diagnosis of proximal humeral physeal separation. Magnetic resonance imaging (MRI) revealed edema of the infraclavicular part of the brachial plexus. Conservative management was followed, and the injury remodeled completely at 2 years. CONCLUSION: Neonatal proximal humeral physeal separation poses a diagnostic challenge. Ultrasonography is helpful for diagnosis. MRI is indicated when concurrent brachial plexus birth injury is suspected. Conservative management yields good outcome in the absence of entrapped nerves and tendons.
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Traumatismos do Nascimento , Ombro , Recém-Nascido , Humanos , Masculino , Úmero/diagnóstico por imagem , Tratamento Conservador , Epífises , Traumatismos do Nascimento/complicações , Traumatismos do Nascimento/diagnóstico por imagemRESUMO
OBJECTIVE: To assess the feasibility and outcomes of same-day surgery in primary and reoperative laparoscopic hiatal hernia repairs. METHODS: Same-day surgery was planned in elective procedures with ASA II-IV. An Enhanced Recovery After Surgery (ERAS) protocol was implemented to achieve same-day surgery, and opioid-based anesthesia was replaced by opioid-free anesthesia. Outcomes were assessed by length of stay, transition from same-day surgery to observation or inpatient, and postoperative emergency department visits/readmissions. The predictors of same-day surgery were assessed. Values are presented as median (interquartile range). RESULTS: From 04/13/2017 to 09/29/2022, there were 518 laparoscopic hiatal hernia repairs in 491 patients, 428/518 (82.6%) were primary, and 90/518 (17.4%) were reoperative. In the primary group, 314/428 (73.4%) were planned as same-day surgery and 246/314 (78.3%) were performed as same-day surgery. Same-day surgery with opioid-based anesthesia protocol was performed in 77/314 (24.5%) vs. same-day surgery with opioid-free anesthesia protocol in 169/314 (53.8%), p < 0.001, 41/246 (16.7%) same-day surgery primary procedures had emergency department visit post-discharge, and 26/246 (10.6%) were readmitted. In the reoperative group, 51/90 (56.7%) were planned as same-day surgery, and 27/51 (52.9%) were performed as same-day surgery. Same-day surgery with opioid-based anesthesia protocol was performed in 2/51 (3.9%) vs. same-day surgery with opioid-free anesthesia protocol in 25/51 (49.0%), p < 0.001, 3/27 (11.1%) same-day surgery reoperative procedures had emergency department visit post-discharge, and 3/27 (11.1%) were readmitted. Opioid-free anesthesia protocol was the positive predictor of same-day surgery compared to opioid-based anesthesia protocol (OR 7.44 [95% CI: 2.94, 18.83]), p < 0.001. Negative predictors were ASA III compared to II (OR 0.52 [95% CI: 0.28, 0.94]), p = 0.031, and duration of operation (OR 0.98 [0.97, 0.99]) p < 0.001. CONCLUSION: Laparoscopic hiatal hernia repair can be performed as same-day surgery in the majority of primary and reoperative procedures with good outcomes and low postoperative emergency department visits and readmissions. The odds of same-day surgery are higher with opioid-free anesthesia, lower ASA, and shorter operative time.
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Hérnia Hiatal , Laparoscopia , Humanos , Herniorrafia/métodos , Procedimentos Cirúrgicos Ambulatórios , Analgésicos Opioides/uso terapêutico , Estudos de Viabilidade , Assistência ao Convalescente , Estudos Retrospectivos , Alta do Paciente , Laparoscopia/métodos , Hérnia Hiatal/cirurgiaRESUMO
OBJECTIVE: To assess complications and to compare preoperative and postoperative radiographic measures in patients who underwent cervical laminoplasty. METHODS: We evaluated patients undergoing cervical laminoplasty between 2011 and 2022 at an academic medical center. Patient demographics, intraoperative and postoperative complications, and preoperative and postoperative radiographic parameters were recorded. RESULTS: Of 150 patients undergoing cervical laminoplasty during 2011-2022, 105 met the inclusion criteria. We identified 22 (21.0%) adverse events in 20 patients: 4 intraoperative (3.8%), 10 perioperative (9.5%), and 8 delayed postoperative (7.6%). Among adverse events, 13 (12.4%) were judged to be minor and 9 (8.6%) were judged to be major complications. Revision surgery was required in 6 (5.7%) patients. Both preoperative and postoperative cervical spine radiographic imaging was available in 47 (44.8%) of the 105 patients. Mean preoperative and postoperative C2-7 Cobb angles were 14.7° and 12.3°, respectively (P = 0.04). Mean preoperative and postoperative sagittal vertical axis measurements were 29.2 mm and 33.3 mm, respectively (P = 0.07). Mean preoperative and postoperative T1 slopes were 32.3° and 30.2°, respectively (P = 0.07). CONCLUSIONS: Cervical laminoplasty carries a significant risk of adverse events, the majority of which are minor, and has a low rate of reoperation (5.7%). The procedure does not result in significant changes in sagittal vertical axis or T1 slope. Cervical laminoplasty remains a valuable surgical option for selected patients with cervical myelopathy.
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Laminoplastia , Doenças da Medula Espinal , Humanos , Laminoplastia/efeitos adversos , Laminoplastia/métodos , Doenças da Medula Espinal/diagnóstico por imagem , Doenças da Medula Espinal/cirurgia , Doenças da Medula Espinal/etiologia , Radiografia , Vértebras Cervicais/diagnóstico por imagem , Vértebras Cervicais/cirurgia , Complicações Pós-Operatórias/diagnóstico por imagem , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Estudos Retrospectivos , Resultado do TratamentoRESUMO
BACKGROUND AND PURPOSE: Proton therapy (PT) has emerged as a standard-of-care treatment option for localized prostate cancer at our comprehensive cancer center. However, there are few large-scale analyses examining the long-term clinical outcomes. Therefore, this article aims to evaluate the long-term effectiveness and toxicity of PT in patients with localized prostate cancer. MATERIALS AND METHODS: Review of 2772 patients treated from May 2006 through January 2020. Disease risk was stratified according to National Comprehensive Cancer Network guidelines as low [LR, n = 640]; favorable-intermediate [F-IR, n = 850]; unfavorable-intermediate [U-IR, n = 851]; high [HR, n = 315]; or very high [VHR, n = 116]. Biochemical failure and toxicity were analyzed using Kaplan-Meier estimates and multivariate models. RESULTS: The median patient age was 66 years; the median follow-up time was 7.0 years. Pelvic lymph node irradiation was prescribed to 28 patients (1%) (2 [0.2%] U-IR, 11 [3.5%] HR, and 15 [12.9%] VHR). The median dose was 78 Gy in 1.8-2.0 Gy(RBE) fractions. Freedom from biochemical relapse (FFBR) rates at 5 years and 10 years were 98.2% and 96.8% for the LR group; 98.3% and 93.6%, F-IR; 94.2% and 90.2%, U-IR; 94.3% and 85.2%, HR; and 86.1% and 68.5%, VHR. Two patients died of prostate cancer. Overall rates of late grade ≥ 3 GU and GI toxicity were 0.87% and 1.01%. CONCLUSIONS: Proton therapy for localized prostate cancer demonstrated excellent clinical outcomes in this large cohort, even among higher-risk groups with historically poor outcomes despite aggressive therapy.
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Introduction: Hip spica is a widely used treatment modality in the management of various paediatric orthopaedic conditions. A standardized hip spica table is not universally available and various centerres have devised their own designs. In collaboration with the local engineering team, we have designed a light weight yet sturdy, economical and portable hip spica table. Materials and Methods: Components of the spica table and their measurements are described. Technique of mounting and unmounting the patient off the table has been discussed. We have applied the hip spica using the current design in 141 children between 2009 and 2023. The same table has been used for the children aged 6 months to 10 years. We have not experienced any table breakage during spica application. The acrylic sheet was changed only once during the study period due to attrition. Conclusion: Our design has been used successfully at our center for more than 14 years. It is simple, economical, portable and durable. It can be used in dedicated pediatric orthopedic centers and can be carried easily to the field hospitals. Supplementary Information: The online version contains supplementary material available at 10.1007/s43465-023-00935-1.
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Purpose: To study the endoscopic ostium characteristics and outcome of 8 × 8 mm osteotomy in external dacryocystorhinostomy (DCR) using the microdrill system. Methods: This prospective interventional pilot study was performed on 40 eyes of 40 patients with primary acquired nasolacrimal duct obstruction (NLDO) from June 2021 to September 2021 in patients undergoing external DCR. An 8 × 8 mm osteotomy was performed using round, cutting burr attached to a microdrill system. Success was defined as patent ostium on lacrimal syringing (anatomical) and a Munk score <3 (functional) at 12 months. Postoperative endoscopic ostium evaluation was done using a modified DCR ostium (DOS) scoring system at 12 months. Results: The mean age of the study participants was 42.41 ± 11.77 years and the male-to-female ratio was 1:4. The mean duration of surgery was 34.15 ± 1.66 minutes and that for osteotomy creation was 2.5 ± 0.69 minutes. The mean intraoperative blood loss was 83.37 ± 11.89 ml. Anatomical and functional success rates were 95% and 85%, respectively. The mean modified DOS score was "excellent" in 34 patients (85%), "good" in 1 patient (2.5%), "fair" in 4 patients (10%), and "poor" in 1 patient (2.5%). Complications included nasal mucosal injury in 10% (4/40) of patients, complete cicatricial closure of ostium in 2.5% (1/40), incomplete cicatricial closure in 10% (4/40), nasal synechiae in 5% (2/40), and canalicular stenosis in 2.5% (1/40). Conclusion: An 8 × 8 mm-sized osteotomy created by powered drill and covered by lacrimal sac-nasal mucosal flap anastomosis in external DCR is an effective technique that has minimal complications and shorter surgical time.
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Dacriocistorinostomia , Obstrução dos Ductos Lacrimais , Ducto Nasolacrimal , Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Dacriocistorinostomia/métodos , Ducto Nasolacrimal/cirurgia , Obstrução dos Ductos Lacrimais/diagnóstico , Estudos Prospectivos , Projetos Piloto , Endoscopia/métodos , Osteotomia , Resultado do Tratamento , Estudos RetrospectivosRESUMO
Gitelman syndrome (GS) is salt-losing tubulopathy characterized by hypokalemia, hypomagnesemia, hypocalciuria, hyperreninemia, hyperaldosteronemia, metabolic alkalosis, and rarely hypocalcemia. Here, we describe the case of a 54-year-old man who presented with cerebellar signs and tetany. On investigation, he was found to have hypokalemia, hypocalcemia, hypomagnesemia, metabolic alkalosis, and high urinary chloride levels. On correction of metabolic parameters, he became asymptomatic. In cases of unexplained recurrent hypokalemia, hypocalcemia and hypomagnesemia, the diagnosis of GS should be considered.