Impact Of Early Diagnosis Research Articles

Correlation of RBC indices and RBC histogram obtained by automated hematology analyser with peripheral smear in the diagnosis of anemia

: The impact of early diagnosis and management of anemia on patient outcome has been tremendous. Although conventional microscopic examination of blood using peripheral smear is unequivocal, the advent of automated hematology analyzer has revolutionized the field of clinical hematology and its practice. This study highlights the efficiency and utility of specific parameters obtained by hematology analyzer and its comparison with peripheral smear in the diagnosis of anemia, also determines the sensitivity of the same.: 501 Ethylenediamine tetra acetic acid blood samples collected at a tertiary care teaching hospital in Karnataka during one and half years from February 2021 to August 2022, were run on the Sysmex 6-part automated hematology analyzer and simultaneous peripheral smears were prepared and stained using Leishman stain based on standard operating procedures. The histogram and peripheral smear findings were noted.: Among the 501 cases, there were 269(53.7%) cases of Normocytic Normochromic Anemia in which 82.9% showed normal curve, 145(28.9%) cases of Microcytic Hypochromic Anemia in which 92.4% showed shift to left, 31(6.2%) cases of Dimorphic Anemia in which 61.3% showed normal curve contrary to the expected double peak, 24(4.8%) cases of Macrocytic Anemia in which 83.3% showed shift to right, 23(4.6%) cases of Pancytopenia in which 39.1% showed normal curve and 9 cases of Normocytic Hypochromic Anemia. : The Automated hematology Analyzer provides highly valuable information with limited sample and is an essential tool in diagnosis, classification and management of anemia.

Impact of Early Diagnosis in Patients with Axial Spondyloarthritis on Arterial Stiffness Progression

Background: In patients with axial spondyloarthritis (AxSpA), we have reported that higher inflammatory burden as reflected by a longer disease duration, delay in diagnosis and higher erythrocyte sedimentation rate (ESR) levels were predictors associated with incident hypertension after adjusting for traditional cardiovascular (CV) risk factors (1). Whether this is due to accelerated arterial stiffness progression is worth exploring. Methods: One hundred patients with axSpA who fulfilled the ASAS classification criteria and with active disease (ASDAS [Formula: see text]2.1) were recruited from the out-patient clinic of 6 regional hospitals. All participants will receive a 2-year protocolized treatment aiming to achieve ASDAS low disease activity (LDA) in order to address the effects of treating-to-target (T2T) and vascular outcomes (The Hong Kong AxSpA T2T vascular study). Medical history, medication used, disease activity, serum levels of inflammatory markers, cholesterol and fasting glucose were measured/recorded every 6 months. Brachial-ankle pulse wave velocity (baPWV) and carotid ultrasound were assessed at baseline and yearly. In this interim-analysis, we will focus on baPWV. Results: Ninety-two patients completed the month 12 follow-up. The patients were stratified into two groups based on the duration from symptom onset to diagnosis: less than 2 years (early axSpA group) and 2 years or more (non-early axSpA group). Table 1 summarized the demographic and clinical characteristics of both groups. The baseline baPWV values were comparable between the two groups (1412.4 ± 230.45 and 1325.19 ± 174.75, p > 0.05). However, at Month 12, there was a significant difference in baPWV between the groups (1470.77 ± 233.70 and 1302.09 ± 198.52, p= 0.001) (Figure 2). The early axSpA group showed a decrease of 23.09 cm/s, while the non-early axSpA group exhibited an increase of 59.85 cm/s (p=0.033). A multivariate linear regression analysis was conducted to predict the change in baPWV based on age, gender, early axSpA, use of csDMARDs, and glucocorticoids at baseline. Early axSpA remained the only significant predictor and was associated with a positive effect in reducing baPWV ([Formula: see text]= -82.939; p= 0.033). Conclusion: Early diagnosis may be able to prevent progression of arterial stiffness in patients with axial SpA by lowering the cumulative inflammatory burden before effective suppression of inflammation could be given to the patients.

Impact of early diagnosis on surgical outcomes in patients with Loeys-Dietz syndrome.

This study aimed to investigate the influence of early diagnosis (ED) on surgical outcomes in patients definitively diagnosed with Loeys-Dietz syndrome (LDS). A retrospective review was conducted on 38 patients with LDS who underwent aortic surgery at our institution between January 1995 and June 2022. The primary endpoint was freedom from aortic reoperation. Among the patients, the median age at the initial surgery was 33 (range: 39-44) years, and 23 (60.5%) patients were male. Twenty-one (55.3%; aortic dissection or rupture (n = 2) and aneurysm (n = 19)) patients were diagnosed with LDS before the initial surgery (ED group). Meanwhile, the remaining 17 (44.7%; aortic dissection or rupture (n = 13) and aneurysm (n = 4)) patients were after surgery [delayed diagnosis (DD) group]. The ED group had significantly lower rates of emergency surgery and concomitant arch procedure (P < .001, respectively) but a higher rate of valve-sparing root surgery (P = .018) compared to the DD group. No in-hospital mortality was observed in either group. Nevertheless, the ED group had a shorter postoperative hospital stay (median difference: 3 days, P = .032) and a lower rate of aortic reoperation (P = .013). Early detection of LDS may help in preventing acute aortic syndrome, reducing the risk of aortic reoperation, and potentially shortening hospital stay. Careful medical management before surgery could contribute to better clinical outcomes and an improved quality of life for patients with LDS.

Long term longitudinal follow-up of an AD-HIES cohort: the impact of early diagnosis and enrollment to IPINet centers on the natural history of Job’s syndrome

Job’s syndrome, or autosomal dominant hyperimmunoglobulin E syndrome (AD-HIES, STAT3-Dominant Negative), is a rare inborn error of immunity (IEI) with multi-organ involvement and long-life post-infective damage. Longitudinal registries are of primary importance in improving our knowledge of the natural history and management of these rare disorders. This study aimed to describe the natural history of 30 Italian patients with AD-HIES recorded in the Italian network for primary immunodeficiency (IPINet) registry. This study shows the incidence of manifestations present at the time of diagnosis versus those that arose during follow up at a referral center for IEI. The mean time of diagnostic delay was 13.7 years, while the age of disease onset was < 12 months in 66.7% of patients. Respiratory complications, namely bronchiectasis and pneumatoceles, were present at diagnosis in 46.7% and 43.3% of patients, respectively. Antimicrobial prophylaxis resulted in a decrease in the incidence of pneumonia from 76.7% to 46.7%. At the time of diagnosis, skin involvement was present in 93.3% of the patients, including eczema (80.8%) and abscesses (66.7%). At the time of follow-up, under therapy, the prevalence of complications decreased: eczema and skin abscesses reduced to 63.3% and 56.7%, respectively. Antifungal prophylaxis decreased the incidence of mucocutaneous candidiasis from 70% to 56.7%. During the SARS-CoV-2 pandemic, seven patients developed COVID-19. Survival analyses showed that 27 out of 30 patients survived, while three patients died at ages of 28, 39, and 46 years as a consequence of lung bleeding, lymphoma, and sepsis, respectively. Analysis of a cumulative follow-up period of 278.7 patient-years showed that early diagnosis, adequate management at expertise centers for IEI, prophylactic antibiotics, and antifungal therapy improve outcomes and can positively influence the life expectancy of patients.

Premature Ovarian Insufficiency - diagnostic and therapeutic challenges

Introduction and purpose: Premature Ovarian Insufficiency (POI) is a rare but serious disease diagnosed in about 1% of women before the age of 40. It is characterized by hypoestrogenism and an increase in the level of the follicle-stimulating hormone, which is associated with menstrual disorders, pregnancy failures and a reduced quality of life. The main causes of POI include a genetic background and autoimmune abnormalities, as well as increasingly jatrogenic factors. Care for patients is focused on hormone replacement therapy and infertility treatment. The aim of this review is to discuss current treatment methods, the impact of early diagnosis and the prevention of premature ovarian insufficiency, which affects the ability to have one's own offspring. The article also describes new methods of infertility treatment that are under investigation.&#x0D; Materials and methods: This literature review is based on articles published in the PubMed database from 2015 to 2022 using the following phrases: premature ovarian insufficiency, premature ovarian insufficiency stem cells&#x0D; State of knowledge: The only way to treat infertility in women with POI is egg donation. Currently, research is being conducted to achieve early diagnosis, introduce new treatment methods and reduce the number of iatrogenic forms of POI.&#x0D; Conclusion: The main problem for women diagnosed with POI is the difficulty or often impossibility of having their own children. Egg donation does not allow for the transfer of the patient's genetic material, and is also not available as a treatment option in some countries. For this reason, new methods for early diagnosis, treatment, and prevention of POI are being developed.

Subclinical Ketosis in Dairy Herds: Impact of Early Diagnosis and Treatment.

Clinical and subclinical ketosis (SCK) in dairy cows occurs during the lactation period frequently in many herds, causing a reduction in milk yield and alterations in milk quality with significant economic losses for farmers. SCK is defined as a preclinical stage of ketosis characterized by an elevated ketone body level without clinical signs. Often many cows develop an elevated ketone body level during the first weeks of lactation even though it never goes up to a critical point causing clinical signs. This study aimed to evaluate the prevalence of SCK in Sicily and assess the effect of a treatment with propylene glycol (PG) to control the SCK, thus, reducing the negative effect on milk quality yield. This cross-sectional study was carried out on 22 farms located south-east of Sicily and 1,588 cows in lactation. A total of 3,989 individual milk samples were collected from calving to 80 subsequently days to check the β-hydroxybutyrate (BHB) values in order to establish the SCK status by the Fourier Transform Infrared Spectroscopy. Moreover, the contents of fat, protein, lactose, casein, urea, somatic cell count and acetone were evaluated to identify a correlation between SCK and milk quality. A total of 1,100 cows showed BHB values higher than 0.10 mmol/L. These cows were considered SCK positive, were separated from the rest of the herd, and treated with PG (400 g/head per day), all SCK cows were treated with PG and cows without SCK were not treated. The results showed a prevalence of 41.5% of SCK-positive cows during the first 9 days of lactation. The comparison among the cure rate of treated cows shows that the treatment was most effective in the first 7 days of lactation (76.5% of treated cows) than in the following days. PG positively influenced the milk quality parameters, except for the fat proportion. Moreover, the animals treated with PG showed also an increase in milk yield, supporting the economical sustainability of treatment.

Gastric cancer incidence and mortality trends 2007-2016 in three European countries.

BACKGROUND : Increased awareness of gastric cancer risk, easy access to upper endoscopy, and high definition endoscopes with virtual chromoendoscopy may have led to the increase in early diagnosis of gastric cancer observed in recent years in Europe, which may be associated with improved survival. Currently, no data exist on the impact of early diagnosis on survival at a populational level in Europe. Our aim was to assess gastric cancer incidence, early diagnosis, and survival in northwestern and southern European countries with a low-to-moderate incidence of gastric cancer. METHODS : Data on 41 138 gastric cancers diagnosed in 2007-2016 were retrieved from national cancer registries of Belgium, the Netherlands, and northern Portugal. Age-standardized incidence and mortality rates were assessed and expressed per 100 000 person-years. Early diagnosis was defined as T1 tumors. Net survival estimates for 2007-2011 vs. 2012-2016 were compared. RESULTS : Age-standardized incidence and mortality decreased over time in Belgium, northern Portugal, and the Netherlands (relative incidence decrease 8.6 %, 4.5 %, and 46.8 %, respectively; relative mortality decrease 22.0 %, 30.9 %, and 50.0 %, respectively). Early gastric cancer diagnosis increased over time for all countries. Net 1-year survival improved significantly between the two time periods in all countries, and at 5 years in Belgium and Portugal. CONCLUSIONS : This is the first study comparing trends (2007-2016) in gastric cancer incidence and mortality in some European countries. We found an increasing proportion of T1 gastric cancers and a decrease in age-standardized mortality over time, supporting the use of secondary prevention strategies.

Primary Malignant Synovial Tumor in the Mediastinum

Primary mediastinal synovial sarcomas constitute a rare subset of mediastinal tumors. The diagnosis is often delayed at the time of presentation impacting the five-year survival rate due to its highly aggressive natural history. We report a 22-year old female with a monophasic variant of the primary mediastinal synovial sarcoma.A 22-year-old female, with a two-month history of productive cough, fever, breathlessness, was referred to our center in view of persistent right-sided hydropneumothorax despite multiple thoracocenteses. Examination revealed reduced right-sided air entry with a succussion splash. Imaging suggested a well-defined cystic lesion with fluid, air foci, and multiple septations. A provisional diagnosis of a ruptured hydatid cyst was made and exploratory thoracotomy was planned. Intraoperatively, a well-defined cystic lesion with 350 mL of hemorrhagic fluid, densely adherent to the lung and diaphragm, was found. The biopsy revealed a monophasic spindle cell variant of the primary synovial sarcoma. Follow-up positron emission tomography (PET) on postoperative day 20 showed no residual disease and evidence of metastasis. However, the patient was lost to follow up following one cycle of chemotherapy with ifosfamide.Primary mediastinal synovial sarcomas are aggressive tumors that warrant an early diagnosis for prompt treatment. They usually present with non-specific respiratory symptoms. The gold standard of diagnostic modalities is a molecular panel looking for the translocation - t(X;18)(p11;q11). However, in low-middle income countries, a biopsy may be more practical, as they are cost-effective. The treatment is surgical resection, with combined chemotherapy and radiotherapy if metastases are present.Our case emphasizes the early detection of this lesion, its mimicry with other lesions, and the impact of early diagnosis.

Clinical utility of fetal echocardiography: an Egyptian center experience

BackgroundThe impact of early diagnosis of fetal cardiac abnormalities on the postnatal outcome has been controversial in literature. We aimed to evaluate the role of fetal echocardiography (FE) as a diagnostic tool for early detection and proper management of fetal cardiac abnormalities, study the indications of referral and detect the perinatal outcome in our institution.ResultsThis is a cross-sectional observational and descriptive study that included one hundred and one singleton pregnant women (101 fetuses) who were referred for FE over a period of one year. Indications for referral and perinatal risk factors were documented. FE and postnatal transthoracic echocardiography were done. Fetal cardiac abnormalities were detected in 46.5% of cases. Congenital heart defects (CHDs) in 34.6%, fetal arrythmias in 9.9%, cardiomyopathy in 2.9% and cardiac mass (Rhabdomyoma) in 1% (combined structural and rhythm abnormalities were observed in two fetuses). Of the CHDs, complex heart lesions were diagnosed in 57.1%, common atrioventricular canal in 28.6% and conotrunchal anomalies in 14.3%. Of the ten cases with fetal arrythmias, five fetuses had tachyarrhythmias, four had ectopics and one fetus had congenital heart block in association with maternal lupus. The indications for referral were abnormal obstetric ultrasound (52.5%), maternal medical illnesses (23.8%), multiple neonatal deaths (13.9%) and positive family history of CHD (10.9%). The number of fetuses with cardiac abnormalities was significantly higher than those without cardiac abnormalities in mothers not exposed to perinatal risk factors (p = 0.009) and was statistically lower in mothers exposed to perinatal risk factors (p = 0.005). FE showed 100% accuracy in diagnosing complex lesions, common atrio-ventricular canals, cono-truncal anomalies, cardiac masses and fetal arrhythmias. It missed two cases of tiny muscular ventricular septal defects and one case of aortic coarctation. Cases of fetal supraventricular tachycardia were successfully treated in-utero.ConclusionsCHDs exist in fetuses with no underlying perinatal risk factors. FE can accurately diagnose most of the cardiac anomalies though few errors remain challenging (aortic coarctation). It also offers a good chance for successful early life-saving management of some types of fetal arrhythmia.

Management of Systemic Lupus Erythematosus complicated with Refractory Immune Thrombocytopenic Purpura and Pulmonary Artery Hypertension

The coexistence of immune thrombocytopenia (ITP) and pulmonary artery hypertension (PAH) is rarely observed as the initial manifestation of systemic lupus erythematosus (SLE), often leading to delayed diagnosis and poor outcome. We presented the case of an 18-year-old female of Asian origin with severe ITP and PAH as the initial manifestation of SLE. The patient was successfully treated with a combination of methylprednisolone, mycophenolate mofetil, sildenafil, and vinca alkaloid (vincristine). This case provided the opportunity to increase awareness of an uncommon association between SLE complicated with ITP and PAH and suggest a positive impact of early diagnosis and appropriate treatment on the patient’s outcome. The use of vincristine was considered as per the guideline on refractory ITP before referral for splenectomy.

Effectiveness of early diagnosis for prostate cancer based on PSA and multiparametric MRI: A simulation study.

224 Background: Multiparametric magnetic resonance imaging (mpMRI) detects ISUP grade≥ 2 prostate cancer (PC) with a sensitivity over 90%. mpMRI can be used for early detection in patients with a risk of clinically significant PC (csPC) either in combination with systematic biopsy (SB) to increase the detection rate of csPC, or to reduce the number of biopsy procedures by performing biopsies only in positive mpMRI patients. Methods: We estimated the numbers of PC diagnosed, PC deaths averted, and biopsy procedures performed with early diagnosis in a simulated population of men beginning at age 50 using a microsimulation model. The model simulates the natural history of PC and the impact of early diagnosis using epidemiological data from a systematic review of literature. Early diagnosis started at age 55 years, with a PSA threshold of 4 ng/mL. The strategies included (S1) SB alone, (S2) SB combined with mpMRI-targeted biopsy (SB/mpMRI-TB), and (S3) SB/mpMRI-TB following selection of patients based on positive mpMRI (PIRAD3-5) or PSA density (PSAd) &lt; 0.15. A sensitivity of 0.92 and specificity of 0.48 for detecting ISUP grade ≥ 2 PC was used for mpMRI. Results: Compared to no early diagnosis, early diagnosis with SB alone (S1) was estimated to avoid 647 PC-related deaths per 100,000 men over their lifetimes. Using mpMRI was estimated to result in an additional 126 and 118 fewer deaths per 100,000 if mpMRI was used in conjunction with SB (S2) or with SB following patient selection for biopsy by mpMRI or PSAd (S3). To avoid a PC-related death was estimated to require screening of 145 men with SB alone, 121 with SB/mpMRI-TB, and 122 with mpMRI or PSAd followed by SB/mpMRI-TB. Adding mpMRI to SB was also found to reduce the predicted number of biopsies performed (21,821 for SB alone versus 16,510 for SB/mpMRI-TB and 15,385 for SB/mpMRI-TB following selection with mpMRI or PSAd). Conclusions: The results indicate that using mpMRI as a detection method will improve the effectiveness of early diagnosis. Compared to SB alone, using mpMRI through the SB/mpMRI-TB approach, with or without prior patient selection based on mpMRI or PSAd assessments, would result in a reduction in PC-related mortality and in the number of biopsies performed. [Table: see text]

OC-0074: Impact of early diagnosis and improved access to treatment on lung cancer survival

OC-0074: Impact of early diagnosis and improved access to treatment on lung cancer survival

Regular Cervical Cancer Screening for Iranian Women: Facilitators and Barriers

Introduction: Regular cervical cancer screening is an effective strategy to reduce the incidence and mortality rate of this disease. Therefore, the present study aimed to explain facilitators and barriers to performing regular Pap smear tests in Iranian women. Methods: This qualitative study was performed in 2017 in medical centers in Hamadan. The participants in this study were 23 women and 8 health care workers who were selected through purposive sampling. The inclusion criteria were the willingness to participate in the study and having the ability to communicate properly. The data were collected using in-depth semi-structured interviews and analyzed using the qualitative content analysis method with MAXQDA10 software. Results: Three main concepts were recognized as facilitators and barriers to regular Pap smear testing: (1) Belief vs. disbelief in the possibility of cancer control and treatment, (2) Priority vs. non-priority of health in life, and (3) Ability vs. inability to overcome the challenges ahead. Conclusion: Given the results of the study, it is necessary to establish policies to increase people's sensitivity to testing and the dominance of screening culture in society. Health officials also need to support training programs to promote women's understanding of the importance and impact of early diagnosis in controlling and treating cervical cancer and to develop and implement programs to reduce or eliminate financial, time, and emotional barriers.

Impact of early diagnosis by NBS on existing genotype phenotype correlations for Pompe disease

Impact of early diagnosis by NBS on existing genotype phenotype correlations for Pompe disease

Cognitive Function of Children and Adolescents With Congenital Adrenal Hyperplasia: Importance of Early Diagnosis.

ContextPatients with classic congenital adrenal hyperplasia (CAH) are treated postnatally with lifelong glucocorticoid (GC) replacement therapy. Previous results on general cognitive ability in individuals with CAH have been conflicting.ObjectiveTo evaluate long-term cognitive effects of GC replacement therapy and the impact of early diagnosis in children with CAH.Design and SettingObservational study with patients from a single research institute.Patients32 children with CAH (mean age 11.5 years) identified through the Swedish national neonatal screening program for CAH and 52 matched population controls (mean age 10.7 years). Eleven (6 female) children with CAH who were treated prenatally with dexamethasone (DEX), (CAH-DEX) (mean age 11.7 years).InterventionGC replacement therapy, neonatal screening for CAH.MeasuresCognitive abilities assessed with standardized neuropsychological tests (Wechsler scales, Span Board Test, Stroop Interference Test, NEPSY list learning).ResultsChildren with CAH (not prenatally treated) performed equally well as population controls on a series of tests assessing general intellectual ability and executive functions. No significant differences were observed in cognitive performance between patients with different genotypes (null, non-null). Patients with salt-wasting CAH performed poorer than patients with simple virilizing CAH in a test assessing visuo-spatial working memory (P = 0.039), although the performance was within the normal range for the population. Prenatally DEX-treated girls with CAH had lower verbal intellectual ability compared with CAH girls not exposed to prenatal treatment (P = 0.037).ConclusionChildren and adolescents with CAH who were diagnosed early via a neonatal screening program and treated with hydrocortisone had normal psychometric intelligence and executive functions.

Impact of early diagnosis and noninvasive prenatal testing (NIPT): Knowledge, attitudes, and experiences of parents of children with sex chromosome aneuploidies (SCAs).

To investigate the attitudes of parents of children with a sex chromosome aneuploidy (SCA) regarding the impact of an early diagnosis and noninvasive prenatal testing (NIPT). A survey consisting of multiple choice and long response formatted questions was completed by parents of children with SCA(s). Fifty-five participants responded to the survey. A total of 88.1% of participants who received an early diagnosis expressed that it had a positive impact on their child's life. Of the 23 participants who utilized NIPT, 95.7% believed it was a decisive factor in their life because they could research the disorders prior to the birth of their child (35.3%), pinpoint valuable resources and interventions (38.2%), and determine possible risk factors of neurodevelopmental delays to be considered after delivery (20.6%). This study documented parental perspectives on the impact of an early SCA diagnosis and attitudes towards NIPT use for identifying those at risk for SCAs. These informative and insightful results provide personal experiences that health care providers may want to consider when providing prenatal counseling on NIPT for expectant mothers. As this analysis is the first of its kind, ascertainment is limited, and future research should aim to expand these findings by investigating the different factors influencing attitudes towards NIPT.

The impact of early diagnosis on the prognosis of extranodal NK/T-cell lymphoma with massive lung involvement: a case report

BackgroundPulmonary non-Hodgkin lymphoma (NHL) is rare. The most frequent subtype of pulmonary NHL is low-grade B-cell lymphoma, such as lymphoma of mucosa-associated lymphoma tissue. Extranodal natural killer cell/T-cell lymphoma, nasal type (ENKL) is characterized by predominant extranodal involvement and association with Epstein-Barr virus (EBV). ENKL with massive lung involvement has been infrequently reported, and its prognosis is extremely poor.Case presentationA 20-year-old Japanese man presented with intermittent fever lasting for 2 months. Radiological imaging demonstrated multiple nodules of uneven shape and size in both lungs. Video-assisted thoracic surgical lung biopsy showed abnormal lymphocyte infiltration, which was positive for CD3, CD56, and perforin. In situ hybridization for EBV-encoded RNA was positive. From these findings, he was diagnosed with ENKL with lung involvement. The patient was successfully treated with intensive combinational chemotherapy followed by allogeneic cord blood transplantation. He has been alive with continuous complete remission for 1 year after diagnosis.ConclusionsAlthough ENKL involving the lung has been reported to have dismal outcomes, our patient showed long-term survival after intensive chemotherapy and up-front allogeneic hematopoietic transplantation. The present case highlights the importance of early diagnosis as well as allogeneic transplantation.

774. Extrapulmonary Tuberculosis: Impact of Early Diagnosis and Treatment on Mortality

BackgroundPakistan has a high burden of endemic Mycobacterium tuberculos is complex (MTC) disease. Extrapulmonary tuberculosis (EPT) is defined as MTC infection involving any part of the body other than the lung. Extrapulmonary tuberculosis (EPT) is seen 20% of MTC infection in Pakistan, diagnosis is often delayed, and timeliness of initiation of treatment is extremely varied. We conducted a retrospective review of all cases of EPT presenting to a large public hospital in Islamabad, Pakistan to identify the role of early diagnosis and clinical treatment on patients with extra pulmonary tuberculosis.MethodsRetrospective review of EPT diagnosed at Pakistan Institute of Medical Sciences (PIMS), Islamabad, Pakistan. All cases diagnosed and treated as EPT from January to June 2016 were included. Demographic, clinical and laboratory data were extracted from PIMS Medical records and TB01 cards from the National TB Control Program Pakistan. All patients were contacted to determine outcome status. Study was approved from National TB control Program.ResultsTwo hundred seventy-five patients were identified who received a diagnosis of EPT. Mean age was 34.4 years; ratio of men to woman was 1.3:1. Pleural tuberculosis was the most common site involved (28.7%). The next most frequent site involved was lymphatic disease (20.3%). 47.6 percent of patients (113/275) were diagnosed by clinical criteria alone (i.e., symptoms and radiographic imaging). There were only three cases of culture confirmed EPT in the cohort. The overall cure rate was 82.9%. There was no difference of cure rates between the cure rates of males and females. Diagnosis based on clinical criteria was associated with significantly higher cure rate (87.6% vs. 79.6%, P = 0.038) and lower mortality (5.3% vs. 9.3%, P = 0.041) compared with laboratory-based diagnosis (5.3% vs. 9.3%, respectively). Improved outcomes and mortality benefit was seen in patients who were treated based on clinical criteria as compared with those in whom treatment was delayed due to biochemical confirmation (Odds ratio 0.28, 95% CI: 0.086–0.95). Sixteen cases were lost to follow-up.ConclusionEarly initiation of treatment based on clinical criteria was associated with lower mortality and overall outcome benefit in our study cohort. However, further larger studies of patients with EPT are required to validate our observations.Disclosures All authors: No reported disclosures.

Impact of early diagnosis on clinical characteristics of an Italian sample of people with multiple sclerosis recruited online

BackgroundIn order to anticipate the diagnosis of Multiple Sclerosis (MS), the diagnostic criteria had been reviewed several times in the last years. ObjectiveWe wanted to understand whether earlier diagnoses of MS have impacted on therapeutic management of the disease. MethodsWe designed a 22-item survey posted on SMsocialnetwork, a webplatform with a medical supervision, dedicated to Italian MS patients. We collected socio-demographic data, disease and treatment-related information of 1000 patients. ResultsThe median age at diagnosis significantly decreased over years. In the last decades the time delay between disease onset and diagnosis reduced, the disease phenotypes at diagnosis shifted from progressive form to relapsing ones and clinically isolated syndrome, the number of early treated patients increased over time. ConclusionWe showed, verifying a large sample of patients in a reallife setting, that the improvement of the diagnostic process allowed the anticipation of MS diagnosis over years and had a huge impact in terms of treatment approach.

Economic impact of screening for X-linked Adrenoleukodystrophy within a newborn blood spot screening programme

BackgroundA decision tree model was built to estimate the economic impact of introducing screening for X-linked adrenoleukodystrophy (X-ALD) into an existing tandem mass spectrometry based newborn screening programme. The model was based upon the UK National Health Service (NHS) Newborn Blood Spot Screening Programme and a public service perspective was used with a lifetime horizon. The model structure and parameterisation were based upon literature reviews and expert clinical judgment. Outcomes included health, social care and education costs and quality adjusted life years (QALYs). The model assessed screening of boys only and evaluated the impact of improved outcomes from hematopoietic stem cell transplantation in patients with cerebral childhood X-ALD (CCALD). Threshold analyses were used to examine the potential impact of utility decrements for non-CCALD patients identified by screening.ResultsIt is estimated that screening 780,000 newborns annually will identify 18 (95%CI 12, 27) boys with X-ALD, of whom 10 (95% CI 6, 15) will develop CCALD. It is estimated that screening may detect 7 (95% CI 3, 12) children with other peroxisomal disorders who may also have arisen symptomatically. If results for girls are returned an additional 17 (95% CI 12, 25) cases of X-ALD will be identified. The programme is estimated to cost an additional £402,000 (95% CI £399–407,000) with savings in lifetime health, social care and education costs leading to an overall discounted cost saving of £3.04 (95% CI £5.69, £1.19) million per year. Patients with CCALD are estimated to gain 8.5 discounted QALYs each giving an overall programme benefit of 82 (95% CI 43, 139) QALYs.ConclusionIncluding screening of boys for X-ALD into an existing tandem mass spectrometry based newborn screening programme is projected to reduce lifetime costs and improve outcomes for those with CCALD. The potential disbenefit to those identified with non-CCALD conditions would need to be substantial in order to outweigh the benefit to those with CCALD. Further evidence is required on the potential QALY impact of early diagnosis both for non-CCALD X-ALD and other peroxisomal disorders. The favourable economic results are driven by estimated reductions in the social care and education costs.