Otolaryngologic Manifestation and Long-Term Outcome in Mild COVID-19: Experience from a Tertiary Care Centre in India
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ABSTRACT:
SUBMITTER: Panda S
PROVIDER: S-EPMC7556593 | biostudies-literature | 2020 Oct
REPOSITORIES: biostudies-literature
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Project description:BackgroundTreatment of malignant melanoma has undergone a paradigm shift with the advent of immune checkpoint inhibitors (ICI) and targeted therapies. However, access to ICI is limited in low-middle income countries (LMICs).Patients and methodsHistologically confirmed malignant melanoma cases registered from 2013 to 2019 were analysed for pattern of care, safety, and efficacy of systemic therapies (ST).ResultsThere were 659 patients with a median age of 53 (range 44-63) years; 58.9% were males; 55.2% were mucosal melanomas. Most common primary sites were extremities (36.6%) and anorectum (31.4%). Nearly 10.8% of the metastatic cohort were BRAF mutated. Among 368 non-metastatic patients (172 prior treated, 185 de novo, and 11 unresectable), with a median follow-up of 26 months (0-83 months), median EFS and OS were 29.5 (95% CI: 22-40) and 33.3 (95% CI: 29.5-41.2) months, respectively. In the metastatic cohort, with a median follow up of 24 (0-85) months, the median EFS for BSC was 3.1 (95% CI 1.9-4.8) months versus 3.98 (95% CI 3.2-4.7) months with any ST (HR: 0.69, 95% CI: 0.52-0.92; P = 0.011). The median OS was 3.9 (95% CI 3.3-6.4) months for BSC alone versus 12.0 (95% CI 10.5-15.1) months in any ST (HR: 0.38, 95% CI: 0.28-0.50; P < 0.001). The disease control rate was 51.55%. Commonest grade 3-4 toxicity was anemia with chemotherapy (9.5%) and ICI (8.8%). In multivariate analysis, any ST received had a better prognostic impact in the metastatic cohort.ConclusionsLarge real-world data reflects the treatment patterns adopted in LMIC for melanomas and poor access to expensive, standard of care therapies. Other systemic therapies provide meaningful clinical benefit and are worth exploring especially when the standard therapies are challenging to administer.
| S-EPMC8456006 | biostudies-literature
Project description:Despite rapidly evolving knowledge about COVID 19 infection, routes of perinatal COVID 19 transmission and viral load in mother neonate dyad remain uncertain. Data were analysed to describe the clinicodemographic profile and viral load in neonates born to COVID 19 positive mothers. Of 2947 deliveries, 69 mothers were COVID 19 positive (2.3%), with 1 abortion, 2 macerated stillbirths and 2 fresh stillbirths as pregnancy outcomes. Of 65 tested neonates, 10.7% (7) were confirmed COVID 19 positive by RTPCR (reverse transcriptase-polymerase chain reaction). Viral load (cycle threshold, Ct of E, RDRp) in neonates was comparable with the Ct reported from adults; however, neonates had milder clinical manifestations. All 7 neonates who tested positive for COVID 19 were subsequently discharged. Six of the 7 neonates were asymptomatic and 1 neonate needed respiratory support (indication being prematurity) which resolved after 48 h. Maternal and neonatal comparison of Ct of E and RdRp gene was statistically non-significant (25.97 vs 19.68, p = 0.34 and 26.5 vs 25.0, p = 0.84). Viral loads of mothers with COVID 19 positive neonates compared with mothers with COVID 19 negative neonates for E and RdRp gene were also statistically non-significant (25 vs 27.19, p = 0.63 and 19.6 vs 27.6, p = 0.08). The majority (93%) of neonates tested later than 48 h (roomed in with mother and breastfed) tested negative.Conclusion: The study supports milder manifestation in COVID 19 positive neonates. Risk of transmission from COVID 19 positive mother to neonate by rooming-in and breastfeeding is low. In this study on a limited number of neonates, maternal viral load was not found to be associated with the positivity status or severity of the illness of neonate. What is Known: • Neonates born to COVID 19 positive mothers are at risk of COVID 19 infection. What is New: • Risk of transmission of COVID 19 from mother to neonate, with rooming-in and breastfeeding, appears low. • In this study on a limited number of neonates, maternal viral load of COVID 19 (E and RdRp cycle thresholds) was not associated with severity of illness or COVID 19 positivity in neonates.
| S-EPMC7482055 | biostudies-literature
Project description:BackgroundRare 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.ResultsOverall, 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 β-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), β-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.ConclusionThe 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.
| S-EPMC11323464 | biostudies-literature
Project description:BackgroundTeledermatology has evolved as a valuable option to outpatient visits during the current pandemic. We set up a smartphone-based hybrid model of teledermatology services providing direct care to patients at our center. To analyse patient and physician-experience and acceptability for teledermatology over a 6-month-period, along with clinicodemographic profile of patients.MethodologySingle-center, retrospective study conducted from May 20, 2020 to October 31, 2020. Patient satisfaction level for teledermatology was assessed on a 4-point scale and compared with the satisfaction level during their previous physical visits prior to COVID-19 pandemic. A physician assessment form was utilised to record the experience of dermatologists while providing teledermatology services.ResultsOf 7530 patients registered, a successful consult was provided to 6125 patients (81.34%). Average number of teleconsultations/day rose from 23.60 in May 2020 to 77.96 in October 2020. Mean age of patients availing teledermatology services was 33.60 ± 16.99 years. Average distance to care and travel time were 100.90 ± 171.77 km and 135 ± 222.32 min, respectively. A definitive diagnosis could be ascertained in 5724 patients (93.45%) and in-person visit was recommended to 133 patients (2.2%). Out of 6125 patients, 5229 could be contacted for feedback, 935 (18.18%), 2230 (42.65%), 1749 (33.45%), and 300 patients (5.70%) reported being very satisfied, satisfied, partially satisfied, and unsatisfied, respectively. Of 1914 patients, who had availed in-person OPD facilities prior to the pandemic, 914 patients (49.62%) preferred in-person visits. Of 34 dermatologists surveyed, 88.2% felt comfortable providing teleconsultations and 82.4% felt the need to continue teledermatology services in the upcoming months.ConclusionsOverall, teledermatology is a valid alternative for in-person dermatology visits during the current crisis; helping with initial triage and further patient management. Further refinement of the process could lead to even more acceptability.
| S-EPMC8209945 | biostudies-literature
Project description:There are currently limited data regarding paediatric Behçet's disease (BD), particularly in the UK. We describe the clinical spectrum, treatment and outcome of BD, and explore the relative sensitivities of the criteria for the diagnosis of BD in a UK paediatric cohort. Single retrospective case note review of children with a clinical diagnosis of BD presenting between 1987 and 2012. Demographics, clinical features, treatment and outcomes were recorded. The sensitivities of the International Study Group (ISG) and International Criteria for BD (ICBD) criteria were explored. BD disease activity was calculated using the Behçet's Disease Activity Index (BDAI). Forty-six patients (22 male) were identified. Median age of onset was 4.87 (0.04-15.71) years; median time to diagnosis was 3.74 (0.25-13.48) years. Clinical features were recurrent oral ulceration (97.8 %), recurrent genital ulceration (73.9 %), gastrointestinal (58.7 %), musculoskeletal (47.83 %), cutaneous (23.9 %) involvement and uveitis (2 %). Recurrent genital ulceration was more common in female patients (P = 0.044). Thirty-seven patients (80.4 %) fulfilled the ICBD criteria; only 12 patients (26.1 %) fulfilled the ISG criteria. BDAI score at diagnosis was 7/20 (0-10/20) and significantly decreased to 5/20 (0-9/20) (P < 0.0001) at latest follow-up. The commonest systemic treatment was colchicine (76.1 %); anti-TNFα treatment was reserved for severe cases (15.5 %). Paediatric BD in the UK may present very early in life, sometimes with a family history, and with a low incidence of ocular involvement. Diagnostic delay is common. The majority of our patients required systemic therapy; anti-TNFα was reserved for severe cases and has largely superseded the use of thalidomide.
| S-EPMC5031738 | biostudies-literature
Project description:Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with a wide range of clinical manifestations. The disease is attributed to mutations in CYP21A2 gene encoding 21-hydroxylase enzyme. In view of severe phenotype in salt-losing cases, issues related to genital ambiguity in girls and precocity in boys, most families opt for prenatal testing and termination of affected foetus. CAH can be diagnosed in utero through direct molecular analysis of CYP21A2 gene, using DNA extracted from foetal tissues or cells obtained from chorionic villus sampling or amniocentesis. The objective of this study was to evaluate the feasibility and accuracy of prenatal diagnosis (PND) using sequencing and multiplex ligation probe amplification (MLPA) methods in families at risk for CAH.Fifteen pregnant women at risk of having an affected offspring with CAH were included in this study. Ten families had previous affected children with salt-wasting/simple virilising form of CAH and five families did not have live children but had a high index of suspicion for CAH in previous children based on history or records. Mutation analysis was carried out by Sanger sequencing and MLPA method.Seven different mutations were identified in 15 families. Deletions and I2g mutation were the most common. Of the 15 foetuses analyzed, nine were unaffected while six were affected. Unaffected foetuses were delivered, they were clinically normal and their genotype was found to be concordant to the prenatal report. All except two families reported in the second trimester. None of the couples opted for prenatal treatment.Our preliminary findings show that PND by direct mutation analysis along with MLPA is a feasible strategy that can be offered to families at risk.
| S-EPMC5501051 | biostudies-literature
Project description:BackgroundPatients with intestinal obstruction consist of a major proportion of emergency room visits and the complication is associated with a significant morbidity and mortality. It has a diverse aetiology which varies from country to country. In developed countries it is mainly due to adhesions and in developing countries due to obstructed hernias. Although there are numerous studies from the western world on this subject there have been few recent publications from the developing world.Patients and methodsWe retrospectively analyzed all the patients admitted with intestinal obstruction to our department from January 1996 to December 2019. Their demographic data, duration of symptoms before presenting to the hospital and interval between admission and surgery were noted along with the cause and level of obstruction. The type of procedure, post-operative complications, mortality or whether re-exploration was done were also noted. Post-operative complications were graded according to the Clavien Dindo classification.ResultsA total of 986 patients presented with intestinal obstruction during this period out of which 743 patients underwent surgery. The commonest cause of obstruction was adhesions in 273 (36.7%) - the proportion increased significantly from 23% in 1996-2004 to 51.6% in 2013-2019. This was followed by carcinoma [130(17.5%)], tuberculosis [111(14.9%)], strictures [94(12.7%)] and hernia (5.4%). Colorectal surgery was the most common previous procedure in the adhesions group [85(31.1%)].The overall operative mortality was 41 (5.5%).ConclusionThe aetiology of intestinal obstruction in our hospital is now mainly due to adhesions and is thus shifting towards the western pattern. But tuberculosis and obstructed inguinal hernias still constitute of a sizable proportion of our patients.
| S-EPMC8648950 | biostudies-literature
Project description:BackgroundSurgical correction of hyperparathyroidism after kidney transplantation has been associated with significant graft function decline. We examined the effects of parathyroidectomy on short- and long-term graft function and its potential predictors.MethodsFor this retrospective, monocentric study we identified 48 (5.5%) out of 892 patients from our protocol biopsy program who received renal transplantation between 2000 and 2007, with parathyroidectomy after transplantation. Data from up to three years after parathyroidectomy was collected and analyzed with multivariable linear regression analyses.ResultsMain indications for parathyroidectomy were hypercalcemia and graft calcifications. Parathyroidectomy was successful in 47 patients, with a median drop in serum intact parathormone (iPTH) from 394 to 21 pg/ml. Mean estimated glomerular fitration rate (eGFR) before parathyroidectomy was 60 ± 26 ml/min. At three months after parathyroidectomy, the eGFR was 46 ± 18 ml/min (p < 0.001) but remained stable at one and three years (50 ± 20; 49 ± 20 ml/min). The median annual eGFR change was - 0.5 ml/min before and + 1.0 ml/min after parathyroidectomy. Multivariable modeling identified high iPTH levels and higher eGFR before parathyroidectomy as predictors of the eGFR drop after parathyroidectomy. Lower graft function twelve months after parathyroidectomy was predicted by the eGFR before and the iPTH drop after surgery.ConclusionsThese results indicate that the extent of parathyroidectomy is critical and too much lowering of iPTH should be avoided by timely parathyroidectomy, before reaching extreme high iPTH values. In view of the observed loss of eGFR, parathyroidectomy can be considered safe in patients with an eGFR above 30 ml/min.
| S-EPMC7027287 | biostudies-literature
Project description:Background. This article attempts to evaluate the clinical profile and outcome determinants following hypertensive SICH in a South Indian population. The study represents the largest series of SICH reported from a single centre in India. Materials and Methods. Prospective data collection and analysis of patients with SICH admitted to our centre between 1st January 2015 and 31st December 2018. The variables analysed include: age, sex, comorbidities, Glasgow coma score (GCS) on admission, radiological features, treatment modality, and outcome at three months. Modified Rankin score (mRS) was used to assess the outcome at discharge and three months. Results. Our study group of 905 patients included 638 males and 267 females and the mean age at presentation was 58.10?±?12.76 years. The study group included 523 patients (57.8%) previously diagnosed hypertensive, of whom 36.3% (n = 190) were on irregular medication. The most frequent locations of hematoma were basal ganglia (478), thalamus (202), lobar (106), cerebellar (61), brainstem (31), and primary intraventricular haemorrhage (27). Secondary intraventricular extension was seen in 425 (47%) patients on admission. The mean volume of the clot on admission was 23.45?±?19.79?ml, and clot progression was seen in only 46 (5.08%) cases. Surgical evacuation through craniotomy was done in 147 (16.8%) patients, and external ventricular drainage (EVD) was placed in 56 (6.2%) patients. Overall 3-month mortality was 30.1% (266 patients). On the last follow up a favorable outcome (mRS 0-3) was observed in 412 (45.53%) patients and a poor outcome (mRS 4-5) in 207 patients (22.87%). Independent predictors of mortality are Age >70 (p = <0.001, OR 4.806, 95% CI 3.064-7.54), admission GCS <8 (p = <0.001, OR7.684, 95% CI 5.055#x2013;11.68), and Hematoma volume >30?ml (p = <0.001, OR 2.45, 95% CI 1.626-3.691). Intraventricular haemorrhage was an additional poor outcome predictor (p < 0.015, CI 1.105-2.585). Surgical evacuation reduced mortality in the group, but morbidity rates remained the same. Conclusions. SICH predominantly affects a younger population in India in comparison to the Western society. Elderly age, poor GCS on admission, clot volume above 30?ml and intraventricular extension remain the most consistent predictors of death and poor outcome. Further studies are needed to assess the risk of SICH among hypertensive patients and to prognosticate the outcome after SICH using novel predictors, including biomarkers.
| S-EPMC7204327 | biostudies-literature
Project description:BackgroundSalivary gland carcinomas (SGC) cover a heterogeneous group of malignancies with a lack of data of high-level evidence.MethodsClinical data of 127 patients treated for SGC at a university cancer center between 2002 and 2017 were analyzed retrospectively. The association of clinicopathological characteristics, treatment modalities, adverse events, and outcome was assessed.ResultsPatients received surgery (n = 65), surgery followed by (chemo-)radiotherapy (n = 56), or primary (chemo-)radiotherapy (n = 6). Injury to the cranial nerves or their branches was the most frequent surgical complication affecting 40 patients (33.1%). Ten year overall and progression-free survival rates were 73.2% and 65.4%, respectively. Parotid tumor site, advanced tumor, and positive nodal stage remained independent negative prognostic factors for overall survival, loco-regional and distant tumor control in multivariate analysis.ConclusionsOptimizing treatment strategies for SGC, depending on distinct clinicopathological factors, remains challenging due to the low incidence rates of the disease.
| S-EPMC8486723 | biostudies-literature