Discrepancies in Lymphoma Diagnosis Over the Years: A 13-Year Experience in a Tertiary Center.
Ontology highlight
ABSTRACT:
SUBMITTER: Ozkaya N
PROVIDER: S-EPMC5451693 | biostudies-other | 2017 Mar
REPOSITORIES: biostudies-other
Shared Molecules
Only show the datasets with similarity scores above: 0.5
Threshold
0.5
Similar Datasets
Project description:BackgroundThis study summarizes the results of prenatal diagnosis due to a history of de novo mutation in a previous pregnancy, in a tertiary center in Israel, over a 10-year period.MethodsWe sorted all cases of de novo mutations from a pool of 2,260 pregnancies for which prenatal molecular diagnosis was applied, between the years 2008 and 2017. We identified 122 molecular prenatal diagnosis performed for de novo mutations, in 90 women.ResultsWhile the total number of yearly prenatal diagnoses stayed stable, a linear increase was detected in the number of cases for which the procedure was done due to a previous de novo mutation: from 3 cases in 2008 to 24 cases in 2017. The most common diseases were Rett syndrome (19), neurofibromatosis Type-1 (12) and Tuberous sclerosis (5). Recurrence occurred in 3 of the 90 women (3.3%) and hotspot mutations were identified in two genes accounting for 11 cases. We did not find a difference in paternal age at first occurrence of the de novo mutation between the study group and the control group.ConclusionThe large increase in the annual number of prenatal diagnoses performed due to a previous pregnancy with a de novo mutation reflects the growing understanding regarding the role of these mutations in the pathogenesis of genetic diseases.
| S-EPMC6465671 | biostudies-literature
Project description:Endophthalmitis is a severe eye infection leading to disabling outcome. Because there were only a few case report illustrating endophthalmitis in chronic dialysis patient, we would like to investigate the epidemiology and clinical features of endophthalmitis in chronic dialysis patient in a tertiary referral center.We searched the health information system in the study hospital with ICD9 encoding endophthalmitis during Jan. 2002 to Dec. 2015. A total of 32 episodes of endophthalmitis occurred in chronic dialysis patients. We performed an 1:2 case-control match on propensity score. The demographic features, clinical manifestation, infection focus and visual outcome were recorded.Of the total of 32 patients, 25 were classified as endogenous endophthalmitis and another seven were exogenous. Most patients presented with ophthalmalgia (n = 32, 100%) and periocular swelling (n = 31, 96.8%), whereas half of the patients suffered blurred vision (n = 16, 50%). Staphylococcus aureus, Klebsiella pneumoniae, and Pseudomonas aeruginosa were the most frequent causative pathogens. Dialysis vascular infection was also a possible unique focus for bacteremia. The visual acuity of the endogenous groups were less likely to improve in the chronic dialysis patients compared with control group.This is the first and the largest case series focusing on endophthalmitis in chronic dialysis patients. Our study showed different pathogen spectrum, an unique bacterial origin and worse visual outcome in these group of patients. Prompt referral to ophthalmologists when the patients present with suspicious symptoms (blurred vision, ophthalmalgia and periocular swelling) is crucial.
| S-EPMC5559798 | biostudies-other
Project description:BackgroundThis study aimed to evaluate the factors influencing final visual acuity in pediatric traumatic cataracts.MethodsData of patients who presented with traumatic cataracts were reviewed retrospectively. We evaluated age at trauma; gender, trauma type, cause, and zone; duration between the time of trauma and cataract surgery; surgical method used; time, location, and type of intraocular lens (IOL) implantation; initial and final best corrected visual acuity (BCVA); amblyopia rate; and complications.ResultsIn all, 61 eyes of 59 patients aged < 16 years with cataracts after trauma were included. The mean age of the children was 7.2 ± 3.9 years. Primary IOL implantation was performed in 70.9% of eyes. The BCVA was 0.7 LogMAR or better in 5.9% of the 49 eyes in which the visual acuity could be measured at the time of trauma and in 69.1% of 55 eyes in which it could be measured after treatment. Evaluation of factors potentially influencing the final visual acuity revealed that eyes that had undergone posterior capsulotomy (PC) and anterior vitrectomy (AV) during cataract surgery had significantly better final visual acuity compared with eyes that did not undergo these procedures.ConclusionsIn children with posttraumatic cataracts, final visual acuity was not affected by patient age and gender; trauma type, cause, and zone; duration between the time of trauma and cataract surgery; surgical method used; and time, location, and type of intraocular lens (IOL) implantation. Improvements in the final BCVA could be seen only by PC + AV combined with lens aspiration with or without IOL implantation. However, this approach of amblyopia treatment needs to be confirmed by more comprehensive and prospective studies.
| S-EPMC9063203 | biostudies-literature
Project description:IntroductionWhipple procedure is one of the major surgeries performed in tertiary care centers. Once considered a high mortality procedure is now being practicing with mortality declining to less than 5%. This study describes our five-year experience of the Whipple procedure in terms of preoperative, operative, and postoperative parameters of patients undergoing surgery in a local tertiary care setting.Material and methodsThis was a non-randomized interventional study that was conducted at the Surgical Department of Services Hospital Lahore from January 2014 to December 2018. A total of 57 Whipple procedures were performed during this period. Demographic data, presenting symptoms, physical signs, past medical history, preoperative stenting details, intra-operative duration of surgery, postoperative course and complications, pathology, and causes of postoperative death were collected on a pre-designed questionnaire. Data were entered and analyzed by using SPSS 22 (IBM Corp., Armonk, USA).ResultsOut of 57 patients, 19 were females and 38 were males. The mean age of patients was 53±05 years. The most common presenting symptom was jaundice 39 (68.4%), followed by abdominal pain 32 (56.1%). The mean size of the tumor on CT-scan was 2.8±1.4 cm, the mean operation time was 315±38.3 min, mean blood loss during surgery was 500±130 ml, and mean hospital stay was 10±6 days. The major postoperative complication was the pancreatic fistula (12%). Twenty-one out of 39 patients presented with jaundice had undergone preoperative biliary stenting by endoscopic retrograde biliary stenting. The most common histological diagnosis was adenocarcinoma of pancreas 19 (33.3%). Out of 57 patients, nine (15.8%) patients expired in the first 30 days and the most frequent cause of mortality was septic shock.ConclusionIn this study, the most common presentation of patients undergoing Whipple procedure was obstructive jaundice, the most frequent operative complication was pancreatic fistula, and the most prevalent histopathology was carcinoma of the pancreas. Perioperative parameters such as mean operative time, mean blood loss during surgery, and mean length of hospital stay were comparable with other studies. However, mortality in this study was slightly higher. It can be concluded that with meticulous surgical technique, securing hemostasis strictly and standard critical care postoperatively can decrease morbidity and mortality after the Whipple procedure.
| S-EPMC7733773 | biostudies-literature
Project description:To determine the incidence, indications, risk factors, and complications of emergency peripartum hysterectomy (EPH) and to evaluate total versus subtotal hysterectomy for EPH.This is a retrospective case series involving thorough examination of the files of all women who had EPH between January 2000 and December 2012 in the department of Obstetrics and Gynecology, Al-Jahra hospital, Kuwait after taking approval from the ethics committee. Incidence, indications, risk factors, type of hysterectomy, and complications of EPH were obtained from patient files.There were 63,337 deliveries of which 70.3 % were vaginal deliveries, and 29.6 % were by cesarean section (CS). Sixty-eight women underwent EPH representing an overall incidence of 1 case per 1,000 deliveries. The indications for EPH included abnormal placentation (77.4 %), uterine atony (14.5 %), and uterine rupture (8.1 %). There was one maternal death. Maternal morbidity occurred in 25 (40.3 %) women. The most common complications were mild to severe coagulopathy (19.35 %) and injury to the urinary tract (17.74 %). Injury to the ureter was avoided by placing ureteric stents preoperatively. Our population was significant in having higher rate of CS deliveries (91.9 %), women with prior CS (83.87 %), and high parity (mean 5.8).Abnormal placentation was the most common indication to perform EPH. The relative risk of EPH was 27 for CS deliveries as compared to vaginal deliveries. There was no significant difference between subtotal versus total hysterectomy with respect to age, parity, previous CS, operative time, blood transfusion, and intra and post operative complications.
| S-EPMC4257923 | biostudies-other
Project description:BackgroundAdrenocortical carcinoma, a rare malignancy, has a poor prognosis, and the treatment modalities have not been well established. This study aimed to analyze the trend of treatment modalities and outcomes of patients with adrenocortical carcinoma.MethodsWe retrospectively analyzed 94 patients with adrenocortical carcinoma between January 1995 and June 2020 for distributions according to the American Joint Committee on Cancer (AJCC) 8th edition tumor-node-metastasis (TNM) staging, the yearly trend of demographic features, differences in multidisciplinary treatment, and prognostic outcomes. Multidisciplinary treatment included any combination of treatment including surgery, mitotane, chemotherapy or radiation.ResultsThe mean age and tumor size were 48.9 years and 11.7 cm, respectively. Fifteen patients (16.0%) underwent surgery only, and 56 (59.6%) underwent surgery with additional multidisciplinary treatments. Initial curative treatment was performed in all patients with stage 1 (n=5), 33 patients with stage 2 (n=34, 97.1%), 12 patients with stage 3 (n=19, 63.2%), and 11 patients with stage 4 (n=36, 30.6%) (P<0.0001). Two patients (40.0%) with stage 1 presented recurrence. In stages 2, 3, and 4, 57.6%, 58.3%, and 90.9% of patients who received curative treatment had recurrences, respectively. The annual trend presented statistical differences in mitotane use that have been increasing recently (P<0.0001).ConclusionsOverall distribution of adrenocortical carcinoma stage was similar throughout the years. Although the rate of mitotane use in the treatment of patients with Adrenocortical carcinoma has increased over time, recurrences were common even after multidisciplinary curative treatment in all stages. The treatment effect and prognostic outcomes presented no promising progression even with adjuvant chemotherapy and mitotane use in addition to surgical treatment. Adrenocortical carcinoma still presented an extremely poor prognosis, and further prospective studies are needed.
| S-EPMC9638798 | biostudies-literature
Project description:BackgroundChildhood-onset combined pituitary hormone deficiency (CPHD) has a wide spectrum of etiologies and genetic causes for congenital disease. We aimed to describe the clinical spectrum and genetic etiologies of CPHD in a single tertiary center and estimate the population-level incidence of congenital CPHD.MethodsThe retrospective clinical cohort comprised 124 CPHD patients (48 with congenital CPHD) treated at the Helsinki University Hospital (HUH) Children's Hospital between 1985 and 2018. Clinical data were collected from the patient charts. Whole exome sequencing was performed in 21 patients with congenital CPHD of unknown etiology.FindingsThe majority (61%;76/124) of the patients had acquired CPHD, most frequently due to craniopharyngiomas and gliomas. The estimated incidence of congenital CPHD was 1/16 000 (95%CI, 1/11 000-1/24 000). The clinical presentation of congenital CPHD in infancy included prolonged/severe neonatal hypoglycaemia, prolonged jaundice, and/or micropenis/bilateral cryptorchidism in 23 (66%) patients; despite these clinical cues, only 76% of them were referred to endocrine investigations during the first year of life. The median delay between the first violation of the growth screening rules and the initiation of GH Rx treatment among all congenital CPHD patients was 2·2 years, interquartile range 1·2-3·7 years. Seven patients harbored pathogenic variants in PROP1, SOX3, TBC1D32, OTX2, and SOX2, and one patient carried a likely pathogenic variant in SHH (c.676G>A, p.(Ala226Thr)).InterpretationOur study suggests that congenital CPHD can occur in 1/16 000 children, and that patients frequently exhibit neonatal cues of hypopituitarism and early height growth deflection. These results need to be corroborated in future studies and might inform clinical practice.FundingPäivikki and Sakari Sohlberg Foundation, Biomedicum Helsinki Foundation, and Emil Aaltonen Foundation research grants.
| S-EPMC9304914 | biostudies-literature
Project description:Amyloidosis of the gastrointestinal tract, with biopsy-proven disease, is rare. We reviewed a series of patients who presented with biopsy-proven gastrointestinal amyloidosis and report their clinical characteristics, treatments, and survival. This is a retrospective review of data prospectively collected from January 1998 to December 2011 in a tertiary referral center; 2,334 patients with all types of amyloidosis were evaluated during this period. Seventy-six patients (3.2%) had biopsy-proven amyloid involvement of the gastrointestinal tract. Their median age was 61 years (range, 34-79). Systemic amyloidosis with dominant gastrointestinal involvement was present in 60 (79%) patients, whereas the other 16 (21%) patients had amyloidosis localized to the gastrointestinal tract without evidence of an associated plasma cell dyscrasia or other organ involvement. Of the 60 systemic cases, 50 (83%) had immunoglobulin light-chain, five (8%) had familial lysozyme, three (5%) had wild-type transthyretin, and two (3%) had mutant transthyretin amyloidosis. The most frequent symptoms for all patients were weight loss in 33 (45%) and gastrointestinal bleeding in 27 (36%). Incidental identification of amyloidosis on routine endoscopic surveillance played a role in the diagnosis of seven patients with systemic immunoglobulin light-chain, and four patients with immunoglobulin light-chain localized to the gastrointestinal tract. Amyloid protein subtyping was performed in 12 of the cases of localized disease, and all had lambda light chain disease. Of the 50 patients with systemic immunoglobulin light-chain amyloidosis, 45 were treated with anti-plasma cell therapy. The median survival has not been reached for this group. For the 16 patients with localized gastrointestinal amyloidosis, supportive care was the mainstay of treatment; none received anti-plasma cell therapy. All 16 are alive at a median follow-up of 36 months (range, 1-143). Patients with biopsy-proven gastrointestinal amyloidosis often present with weight loss and bleeding. In localized cases, all that underwent typing were due to lambda light chain amyloidosis and none progressed to systemic disease during the period of follow-up. Most patients with systemic disease had immunoglobulin light-chain, and their tolerance of therapy and median survival were excellent. Although a rare manifestation of amyloidosis, staining for amyloid should be considered in patients undergoing gastrointestinal biopsy who have unexplained chronic gastrointestinal symptoms.
| S-EPMC3533676 | biostudies-literature
Project description:BackgroundInborn errors of immunity (IEI) predispose patients to various infectious and non-infectious complications. Thanks to the development and expanding use of flow cytometry and increased awareness, the diagnostic rate of IEI has markedly increased in Algeria the last decade.AimThis study aimed to describe a large cohort of Algerian patients with probable IEI and to determine their clinical characteristics and outcomes.MethodsWe collected and analyzed retrospectively the demographic data, clinical manifestations, immunologic, genetic data, and outcome of Algerian IEI patients - diagnosed in the department of medical immunology of Beni Messous university hospital center, Algiers, from 2008 to 2021.ResultsEight hundred and seven patients with IEI (482 males and 325 females) were enrolled, 9.7% of whom were adults. Consanguinity was reported in 50.3% of the cases and a positive family history in 32.34%. The medium age at disease onset was 8 months and at diagnosis was 36 months. The median delay in diagnosis was 16 months. Combined immunodeficiencies were the most frequent (33.8%), followed by antibody deficiencies (24.5%) and well-defined syndromes with immunodeficiency (24%). Among 287 patients tested for genetic disorders, 129 patients carried pathogenic mutations; 102 having biallelic variants mostly in a homozygous state (autosomal recessive disorders). The highest mortality rate was observed in patients with combined immunodeficiency (70.1%), especially in patients with severe combined immunodeficiency (SCID), Omenn syndrome, or Major Histocompatibility Complex (MHC) class II deficiency.ConclusionThe spectrum of IEI in Algeria is similar to that seen in most countries of the Middle East and North Africa (MENA) region, notably regarding the frequency of autosomal recessive and/or combined immunodeficiencies.
| S-EPMC9069527 | biostudies-literature
Project description:BackgroundBecause the future application of cell-free fetal DNA screening is expected to dramatically improve the diagnostic yield and reduce unnecessary invasive procedures, it is time to summarize the indications of invasive prenatal diagnosis. This retrospective study was performed to evaluate the changes and efficacies of indications of invasive procedures for detecting cytogenomic abnormalities from 2000 to 2012.Material and methodsFrom our regional obstetric unit, 7818 invasive procedures were referred by indications of advance maternal age (AMA), abnormal ultrasound findings (aUS), abnormal maternal serum screening (aMSS), and family history (FH). Chromosome, fluorescence in situ hybridization (FISH), and array comparative genomic hybridization (aCGH) analyses were performed on chorionic villus sampling (CVS) and amniotic fluid (AF) specimens at the Yale Cytogenetics Laboratory. The abnormal findings from single or combined indications were compared to evaluate the diagnostic yield.ResultsThe annual caseload declined by 57.2% but the diagnostic yield increased from 7.2% to 13.4%. Chromosomal and genomic abnormalities were detected in 752 cases (9.6%, 752/7818) and 12 cases (4%, 12/303), respectively. Significantly decreased AMA referrals and increased aUS and aMSS referrals were noted. The top 3 indications by diagnostic yield were AMA/aUS (51.4% for CVS, 24.2% for AF), aUS (34.7% for CVS, 14.5% for AF), and AMA/aMSS (17.8% for CVS, 9.9% for AF).ConclusionsOver a period of 13 years, the indication of aMSS and aUS were increasing while AMA was decreasing for prenatal diagnosis of cytogenomic abnormalities, and there was a continuous trend of reduced invasive procedures. Prenatal evaluation using AMA/aUS was the most effective in detecting chromosomal abnormalities, but better indications for genomic abnormalities are needed.
| S-EPMC4497468 | biostudies-literature