Mean Age Of Diagnosis Research Articles

Clinical profile of hemophilia children admitted in a tertiary care hospital in South India: a cross sectional study

Background: Hemophilia is a rare inherited genetic blood disorder that needs a high index of suspicion and appropriate laboratory facilities for diagnosis. Unfortunately, it has not received the same patronage as other bleeding disorders like thalassemia and sickle cell anemia. Its management is expensive and requires lifelong treatment. Methods: This is a hospital-based cross-sectional study done at a hemophilia treatment center in a tertiary hospital in South India to study the clinicoepidemiological profile and complications in hemophilia children admitted during the period of January 2022 to June 2023. Results: 40 children with hemophilia were included in the study, and all of them had Hemophilia A with the majority being of severe type (62.5%). The mean age of diagnosis was 10 months. Hemarthrosis was the presenting complaint in about 50 % of children at admission while the majority had bruises and ecchymosis as clinical presentation at the time of first diagnosis (40%). 5 children tested positive for inhibitors among those tested. Intracranial hemorrhage was the most common occurring complication (17.5%). Knee (60%), elbow (47.5%) and ankle (40%) were the most common target joints. Conclusions: There is a need for awareness of this disease among clinicians and people for appropriate diagnosis. The government should ensure the availability of factor replacement therapy and other treatment modalities even at District hospitals for easy accessibility of patients. Management goals should shift from on-demand therapy to prophylactic therapy for hemophilia children for better living standards and prevent complications like arthropathy in these patients.

Case Report: Chorea an unusual presentation of a patient with clinically isolated syndrome (multiple sclerosis)

This is a case report of a 26 year old girl who presented with choreiform movements of the upper and lower limbs and generalised tonic clonic seizures who had an entity called clinically isolated syndrome of multiple sclerosis on investigation. The pooled incidence rate in 75 reporting countries was 2.1 per 100,000 persons/year, with 32 years of age being the mean age of diagnosis. But multiple sclerosis is a white matter disease and choreiform movements are due to involvement of the grey matter of the brain. There have only been a few case reports of patients with multiple sclerosis having choreoathetoid movements reported.

THU022 A Case Of Delayed Diagnosis Of Acromegaly

Abstract Disclosure: K. Blanchard: None. C. Musurakis: None. A. Havrylyan: None. A 57-year-old hispanic female with hypertension, prediabetes, hyperlipidemia, and uterine leiomyomata with hysterectomy one year ago presented to our emergency department with sensations of numbness, tingling, and pressure on the top of her head for 12 days’ duration and left eye blurred vision with photosensitivity for 3 days’ duration. Physical exam was significant for evident enlarged facial features including macroglossia, macrognathia, separation of teeth, enlarged lips, enlarged ears and increased size of hands and feet with thickening of the skin on the fingers and toes. Many skin tags were noted on the neck and chest. She reported noticing these changes gradually over the past five years, as well as noticing an increase in shoe size and ring size. Admission labs were significant for IGF-1 965 ng/mL (47-236), Glucagon 172 ng/mL (0.05-8.00), AM cortisol 24 ug/dL (6.7-22.6), ACTH 29.6 pg/mL (7.2-63.3), FSH 13.22 mIU/mL (16.74-113.59), LH 3.79 mIU/mL (10.87-58.64), and Prolactin 24.3 ng/mL (2.74-19.64). Hemoglobin A1c was 5.8% (<5.7) and lipid profile was significant for triglycerides of 202 mg/dL (<150). TSH was within normal limits. A chest x-ray showed no cardiomegaly. An echocardiogram showed no cardiomyopathy. A CT scan of the brain showed a hyperdense sellar/suprasellar mass measuring 2.1 x 0.7 x 2.4 cm with mass effect on the optic chiasm and intracranial optic nerve not excluded. An MRI brain confirmed a large pituitary macroadenoma measuring 2.7 x 2.5 x 2.2 cm with mass effect on the optic chiasm and pituitary stalk. In addition to the above workup, we recommended Neurosurgery evaluation for symptomatic macroadenoma with optic chiasm mass effect, Ophthalmology evaluation for visual fields testing, and referral to a tertiary care center for evaluation and treatment of acromegaly. The patient was discharged with Neurosurgery and Endocrinology outpatient follow-up, but unfortunately did not attend her appointments. Acromegaly is a rare condition with a prevalence of 60 cases per million. While the mean age of occurrence is 32 years, the mean age of diagnosis is 40 to 45 years, highlighting a persisting delay in the diagnosis. The changes associated with acromegaly occur slowly and therefore can be overlooked by the patient, their family members, and even physicians. Left untreated, continued exposure to increased levels of growth hormone and IGF-1 leads to development of comorbidities including Cushing’s disease, cardiovascular disease, diabetes, arthralgias, decreased bone mineral density, sleep apnea, and uterine leiomyomata, as well as increased mortality and decreased quality of life. This case highlights the importance of physicians in all specialties being familiarized with the symptoms and physical features of acromegaly to aid in timely diagnosis. Presentation: Thursday, June 15, 2023

Clinicoepidemiological Profile of Pediatric Psoriasis: Experience from a Tertiary Care Center

Abstract Introduction: Psoriasis is a common skin disorder and is relatively less studied in children. The objective of this study was to evaluate the clinical and epidemiological profile of pediatric psoriasis (PP). Materials and Methods: All patients of psoriasis (age <18 years) who visited PP clinic from January 2017 to September 2021 were included in this record-based study, which was conducted in a tertiary care center in North India. Results: Records of 100 patients were analyzed, with female-to-male ratio of 1:1. The mean age of diagnosis was 10.87 ± 3.96 years. The most common initial site of onset was elbows, followed by knees and soles. The most common subtype was plaque psoriasis followed by palmoplantar and guttate types. Average body surface area (BSA) involved was 5.43% with majority (49%) had involvement of 3%–10% BSA. Average psoriasis area and severity index (PASI) in our study was 2.47. PASI >10 was seen in only 5% of patients. Joint involvement was found in 7% of patients and nail changes in 54%. Infection (15%) was the most common aggravating factor, followed by trauma and stress. Koebner phenomenon was present in 15% of patients. Family history of psoriasis was reported in 22% of the patients. A history of other autoimmune disease was present in 5 patients, out of which vitiligo and hypothyroidism was present in 2 patients each and 1 had morphea. Conclusion: PP is a persistent, chronic condition that can have significant psychosocial and emotional implications. For better understanding of PP, more population-based studies are required from different parts of the world.

Incidence of Type 1 Diabetes Mellitus in Hamadan West Region of Iran2019 - 2020

Objective: Type 1 diabetes mellitus (T1DM) results from the autoimmune destruction of insulin-producing beta cells of the pancreas. The objective of the present study was to describe the one year (2019-2020) incidence of T1DM in Hamadan west region of Iran.
 Materials and Methods: All 25 new patients with T1DM resident of Hamadan and its suburbs registered in Besat Hospital, Hamadan, Iran, from March 2019 to 2020 were prospectively reviewed. Information including age, sex, place of residence (urban or rural), season of diagnosis and season of birth were taken from parents through face-to-face interviews.
 Results: During 1 year survey, a total of 57 cases of newly diagnosed T1DM were identified in our center. Among these, 25 patients were residents of Hamadan city and suburbs. Based on this15 per 100 000 per year new cases T1DM occurred in the resident population of Hamadan areas, higher in boys than in girls (18 vs. 11 per 100 000).The mean age of diagnosis was 8.03 yr. The peak incidence was observed at the age group of 10- 14 years. 92% were urban .Most cases were diagnosed in the autumn (44%). 52% had a history of neonatal jaundice and 16% had stressful life events in the family before the onset of diabetes.
 Conclusion: Our study showed a relatively high incidence of T1DM according category of the WHO, being greater in boys and in the age group of 10 to 14 years. The incidence is lower than in some Middle Eastern countries.

Abstract PO-016: SSTR2 use and molecular profile in EBV-positive nasopharyngeal carcinoma: A single institution experience

Abstract Background: Nasopharyngeal carcinoma (NPC) is a rare malignancy endemic in Southeast Asia. EBV infection is recognized as a major risk factor playing important roles in oncogenic pathways. Somatostatin receptor 2 (SSTR2) is a marker used in neuroendocrine tumors and appears to demonstrate high prevalence in EBV+ NPCs. Methods: We identified a total of 16 patients with biopsy-proven WHO type 3 EBV+ (via EBER) NPC in which SSTR2 expression via immunohistochemistry (IHC) was analyzed in either primary or metastatic lesions. Additionally, risk factors (smoking or alcohol), P16 via IHC, PD-L1 via IHC, tumor mutation burden (TMB), microsatellite instability (MSI), genomic alterations via Next Generation Sequencing (NGS), and time to progression (TTP) in months were reported. Results: Mean age of diagnosis was 60 years old, 14 were male, 13 were locally advanced and 37.5% former or heavy smokers. Ten patients were Asian with the rest being Latino (4), European (1) and unknown (1). Fourteen out of sixteen patients (87.5%) had SSTR2 expression either in primary lesions or metastatic lesions. P16 was measured in seven cases, all of them being negative. PDL1 was measured in 11 cases, 9 had high expression (≥ 20 CPS), 2 had expression (1-19 CPS) and 5 was not measured. In 10 cases TMB was evaluated, seven had low TMB and three intermediate TMB. From the TMB intermediate cases, all of them were MSI stable and two high PDL1 expression. From the 10 patients with MSI status all of them were stable. Out of the 16 patients, 11 patients had NGS performed from which 9 patients had clinically significant alterations. 4 out of 9 patients (44.4%) had an 11q13.2-13.3 amplification followed by 33.3% having a 9p21 loss and 22.2% TP53 mutation. Survival, median survival was not reached and median TTP was 23 months with the most common site being the liver. Conclusions: Given the high prevalence of SSTR2 in EBV+ NPCs (87.5%) in our cohort, SSTR2 via IHC may be a good screening tool for EBV + NPCs with potential diagnostic and therapeutic implications. 11q amplifications being present in 44.4% of our cohort might also be of diagnostic significance in NPC. Prognostic and clinical implications warrant further investigation. Citation Format: Juan J. Juarez-Vignon Whaley, Michelle Afkhami, Mykola Onyshchenko, Thomas Gernon, Robert Kang, Ellie Maghami, Sagus Sampath, Arya Amini, Diana Bell, Victoria M. Villaflor. SSTR2 use and molecular profile in EBV-positive nasopharyngeal carcinoma: A single institution experience [abstract]. In: Proceedings of the AACR-AHNS Head and Neck Cancer Conference: Innovating through Basic, Clinical, and Translational Research; 2023 Jul 7-8; Montreal, QC, Canada. Philadelphia (PA): AACR; Clin Cancer Res 2023;29(18_Suppl):Abstract nr PO-016.

A Longitudinal Clinical Trajectory Analysis Examining the Accumulation of Co-morbidity in People with Type 2 Diabetes (T2D) Compared with Non-T2D Individuals.

Type 2 diabetes mellitus (T2D) is commonly associated with an increasing complexity of multimorbidity. While some progress has been made in identifying genetic and non-genetic risk factors for T2D, understanding the longitudinal clinical history of individuals before/after T2D diagnosis may provide additional insights. In this study, we utilised longitudinal data from the DARE (Diabetes Alliance for Research in England) study to examine the trajectory of clinical conditions in individuals with and without T2D. Data from 1932 individuals (T2D n = 1196 vs. matched non-T2D controls n = 736) were extracted and subjected to trajectory analysis over a period of up to 50years (25years pre-diagnosis/25years post-diagnosis). We also analysed the cumulative proportion of people with diagnosed coronary artery disease (CAD) in their general practice (GP) record with an analysis of lower respiratory tract infection (RTI) as a comparator group. The mean age of diagnosis of T2D was 52.6 (95% confidence interval 52.0-53.4)years. In the years leading up to T2D diagnosis, individuals who eventually received a T2D diagnosis consistently exhibited a considerable increase in several clinical phenotypes. Additionally, immediately prior to T2D diagnosis, a significantly greater prevalence of hypertension (35%)/RTI (34%)/heart conditions (17%)/eye, nose, throat infection (19%) and asthma (12%) were observed. The corresponding trajectory of each of these conditions was much less dramatic in the matched controls. Post-T2D diagnosis, proportions of T2D individuals exhibiting hypertension/chronic kidney disease/retinopathy/infections climbed rapidly before plateauing. At the last follow-up by quintile of disadvantage, the proportion (%) of people with diagnosed CAD was 6.4% for quintile 1 (least disadvantaged) and 11% for quintile 5 (F = 3.4, p = 0.01 for the difference between quintiles). These findings provide novel insights into the onset/natural progression of T2D, suggesting an early phase of inflammation-related disease activity before any clinical diagnosis of T2D is made. Measures that reduce social inequality have the potential in the longer term to reduce the social gradient in health outcomes reported here.

Preliminary results from the Australian Genetics of Bipolar Disorder Study: A nation-wide cohort.

The Australian Genetics of Bipolar Disorder Study is a nation-wide cohort of adults living with bipolar disorder. The study aims to detect the relationships between genetic risk, symptom severity, and the lifetime prevalence of bipolar disorder, treatment response and medication side effects, and patterns and costs of health care usage. A total of 6682 participants (68.3% female; aged 44.8 ± 13.6 years [range = 18-90]) were recruited in three waves: a nation-wide media campaign, a mail-out based on prescriptions for lithium carbonate and through the Australian Genetics of Depression Study. Participants completed a self-report questionnaire. A total of 4706 (70%) participants provided a saliva sample and were genotyped and 5506 (82%) consented to record linkage of their Pharmaceutical and Medicare Benefits Schedule data. Most participants were living with bipolar I disorder (n = 4068) while 1622 participants were living with bipolar II disorder and 992 with sub-threshold bipolar disorder. The mean age of bipolar disorder diagnosis was 32.7 ± 11.6 years but was younger in bipolar I (p = 2.0E-26) and females (p = 5.7E-23). Excluding depression with onset prior to bipolar disorder diagnosis, 64.5% of participants reported one or more co-occurring psychiatric disorders: most commonly generalised anxiety disorder (43.5%) and posttraumatic stress disorder (20.7%). Adverse drug reactions were common and resulted in discontinuation rates ranging from 33.4% for lithium to 63.0% for carbamazepine. Our findings highlight the high rate of comorbidities and adverse drug reactions among adults living with bipolar disorder in the general Australian population. Future genomic analyses focus on identifying genetic variants influencing pharmacotherapy treatment response and side effects.

Migraine among Patients Presenting With Headaches to the Department of Internal Medicine in a Tertiary Care Centre.

Migraine is one of the common neurovascular disorders characterized by persistent headaches ranging from moderate to severe pain. It has a high prevalence affecting more than one billion population each year across the world and has high morbidity, especially among young adults and females. The exact cause and mechanism of the migraine is unknown. The aim of this study was to find out the prevalence of migraine among patients presenting with headaches to the Department of Internal Medicine in a tertiary care centre. A descriptive cross-sectional study was conducted in the Department of Internal Medicine in a tertiary care centre from 1 August 2022 to 31 October 2022. Ethical approval was taken from the Institutional Review Committee. All the patients presenting to the Department of Internal Medicine with headaches as primary complaints were included. Patients with incomplete information and altered sensorium were excluded. Convenience sampling method was used. The point estimate was calculated at a 95% Confidence Interval. Among 69 patients, the prevalence of migraine was 13 (18.84%) (9.61-28.07, 95% Confidence Interval). Of those diagnosed with migraine headaches, 4 (30.77%) were male patients, and 9 (69.23%) were female patients. The mean age of diagnosis of migraine headache was 30±11.5 years. The prevalence of migraine among patients presenting with headaches to the Department of Internal Medicine was found to be higher than in the other studies done in similar settings. aura; headache; migraine; prevalence.

Age and sex disparities in Latin-American adults with gliomas: a systematic review and meta-analysis.

This study aimed to identify if there are ethnic differences in the age and sex distribution of gliomas in the Latino adult population. A systematic review and meta-analysis were conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) 2020 recommendations. Databases used were MEDLINE, LILACS, Web of Science, and Scopus. Studies were included if they reported the age and/or sex distribution of gliomas in Latin adults, published in English or Spanish from January 1st, 1985, to December 1st, 2022. The quality of the studies was assessed using the Newcastle-Ottawa Quality Assessment Scale and the NIH Quality Assessment Tool. From 1096 articles, fifteen studies with information on 6,815 patients were selected for the systematic review, and thirteen were selected for the meta-analysis. The mean ages of diagnosis of glioma and glioblastoma were 50.9, 95\%\ CI [47.8-53.9] years and 53.33years, 95 \% CI [51-55.6], respectively. The male-to-female incidence rate ratio of gliomas was 1.39. Our study found mean ages of glioma and glioblastoma were 6 and 10years lower than those reported in the CBTRUS. Our study suggests disparities in the age and sex distribution of gliomas in Latin America compared to other regions. CRD42021274423.

272 Clinico-Pathological Factors Determining Recurrence in Phyllodes Tumour of the Breast: The 25-Year Experience at a Tertiary Cancer Centre

Abstract Aim The study aimed to assess the clinico-pathological features, diagnostic modalities and therapeutic interventions with their outcomes leading to recurrence in Phyllodes tumour (PT) of breast. Method A retrospective observational study entailing clinico-pathological data of patients who were previously diagnosed or presented with new PT of the breast between 1996-2021 was done. Data included- total number of patients diagnosed with PT, age, type of tumour on initial presentation and biopsy, side, size, therapeutic interventions- surgery (mastectomy or lumpectomy) and adjuvant radiotherapy, final biopsy type, recurrence and its type and time to recurrence. Results Among the total 87 patients who were pathologically proven to have PT, 52.87%(n = 46) were found to have recurrence. All patients were recorded to be in the female gender with a mean age of diagnosis at 39 years (range 15–70). Age<40 years had the highest incidence of recurrence (54.35%) followed by age>40 years with 45.65%. 55.4% patients presented with primary phyllodes and 44.6% had recurrent phylloides at presentation. Average time of local recurrence from the time of completion of treatment were 13.8 months whereas for systemic recurrence it was 15.29 months. Surgery(mastectomy/lumpectomy) was the major determinant for local recurrence(p<0.05) followed by adjuvant radiotherapy(p = 0.04) and initial biopsy type for systemic recurrence(p<0.05). Conclusion Patients who received adjuvant radiotherapy had minimal recurrence. Patients who were found to have malignant tumour on initial biopsy were prone to systemic recurrence over local recurrence. Surgery played a determining factor leading to an increased rate of local recurrence following lumpectomy over mastectomy.

Is using the Gail model to calculate the risk of breast cancer in the Venezuelan population justified?

To evaluate the accuracy of the Gail model (GM) in women who already have a diagnosis of breast cancer (BC) from the Breast Pathology Service, Hospital Oncology Department of the Venezuelan Social Security Institute (SOH-IVSS) in the period 2004-2014. To compare the accuracy of the GM in women aged above and below 40 years with a diagnosis of BC. Descriptive, retrospective, cross-sectional, 830 records of patients diagnosed with BC were reviewed between 2004 and 2014. The mean age for diagnosis of the disease was 46 ± 13 years; menarche age was 13 years ± 2; age at first birth 22 ± 5 years, with a history of biopsy 32 ± 11, the percentage of relatives with a primary history of BC reported (PHBC) 9.3%. Only 41% of women with a diagnosis of BC reported Gail >1.67 (positive Gail). In the dichotomous logistic regression that related positive Gail with the independent variables, it was observed: greater probability of positive Gail if menarche age <11 years (p < 0.036), PHBC (p = 0.005), previous biopsy (p = 0.007), age at first birth 25-29 years (p = 0.019). When stratifying by age, unlike the bivariate analysis, women over 40 years of age are more likely to have a positive Gail in menarche age <11 years (p = 0.008), PHBC (p = 0.001), previous biopsy (p = 0.025) when compared with younger women, the age at first birth between 25 and 29 years was statistically significant for both groups; however, the probability was higher in younger women (p = 0.008). There is no conclusive evidence to consider that the GM is applicable to Venezuelan women due to its low precision since it only identified 41% of the patients who had BC as high risk; however, when the factors are analysed separately, we found a higher probability of a positive Gail with statistical significance in EM <11 years, PHBC, previous biopsy and age at first birth 25-29 years; When stratifying by age, we observed that the age at first birth 25-29 years in women aged 40 or less increases the probability of a positive Gail. It is necessary to develop new risk assessment models that are adapted to our female population.

Clinical course and prognosis of patients with hepatocellular carcinoma and haemophilia.

Although patients with haemophilia are known to develop hepatocellular carcinoma (HCC) at a lower age than patients without, there are few reports on the clinical course and prognosis of HCC. We aimed to investigate the clinical course and prognosis of patients with HCC and haemophilia. Twenty-two patients with haemophilia, who were initially diagnosed with HCC between 2003 and 2021, were included. Their clinical courses and prognoses were retrospectively analysed. The results were compared with those of the 24th Nationwide Follow-up Survey of Primary Liver Cancer. All 22 patients were male; of these, 20 patients had haemophilia A, and 2 had haemophilia B. The mean age of diagnosis was 63 years (range 45-78 years) which is lower than the mean of 72 years reported in the Nationwide Survey. The mean diameter of the largest tumour was 30 mm (range 11-70 mm), and 18 tumours (82%) were solitary at the initial diagnosis. Standard treatments for HCC were performed in all patients. Sixty-one transarterial chemoembolisation, 28 RFA, 10 hepatectomies, and 2 radiation treatments were performed, and molecular-targeted agents were administered to 5 patients during their clinical courses. No deaths were associated with complications of HCC treatments. The median survival time after initial treatment was 6.4 years (range 0.9-18.7 years) which did not differ much from the median survival time of 5.8 years in the Nationwide Survey. Standard treatment for HCC could improve the prognosis of patients with HCC and haemophilia.

E68 Kawasaki Disease before and during COVID-19

Abstract Introduction Kawasaki disease is a febrile systemic vasculitis of children, which is suspected to be triggered by respiratory viral infections. We further note, with the outbreak of COVID 19, an increase in incidence with a change in the profile of Kawasaki disease. Objective To describe the epidemiological, clinical and evolutionary characteristics of children managed for Kawasaki or Kawasaki-Like syndrome before and during the Covid pandemic19. Materials and Methods This is a retrospective, descriptive study conducted in the PUC department of the Béchir Hamza children's hospital in Tunis, over a period of 05 years from 1 January 2017–31 December 2021. Results We collected 30 cases of patients hospitalized with Kawasaki disease, between January 2017 and December 2021: 11 cases with Kawasaki syndrome before COVID-19; and 19 cases with Kawasaki syndrome after COVID-19. The mean age of diagnosis was 42 months before the pandemic vs 81 months after the pandemic. The sex ratio was 0.5 before the pandemic vs 0.7 after the pandemic. Viral disease was reported in 0 cases before the pandemic vs 4 cases with confirmed COVID contacts after the pandemic. Fever was the main symptom in both periods, with a mean maximum temperature of 39.7°C before the pandemic vs 39.5°C after the pandemic. The delay of fever from diagnosis was 7.8 days before the pandemic vs 5 days after the pandemic. Cheilitis was reported in 10 cases before the pandemic vs 16 case after the pandemic. Palmoplantarerythema was reported in 1 case before the pandemic vs 7 cases after the pandemic. Scaling was found in 8 cases before the pandemic vs 2 cases after the pandemic. The rash was reported in 9 cases mainly purpuric before the pandemic vs 17 cases after the pandemic, maculopapular. Abdominal involvement was found in 2 cases before the pandemic vs 14 cases after the pandemic. Clinical cardiac involvement was found in 2 cases before the pandemic vs 3 cases after the pandemic. The TTE was pathological in 2 cases before the pandemic, with coronary aneurysm vs 7 cases after the pandemic, with heart failure. All cases received immunoglobulin with a mean time to apyrexia of 26 h before the pandemic vs 25 h after the pandemic. The mean time to hospitalization was 8 days before the pandemic vs 7.3 days after the pandemic. No deaths occurred. Conclusion The change in the profile and incidence of Kawasaki disease following the emergence of COVID-19 must be taken into account in order to manage an influx of patients with severe Kawasaki disease.

Factors associated with the number of months of delaying in multiple sclerosis diagnosis: Comparison of count regression models.

Background: It may take a long time to diagnose multiple sclerosis (MS) since the emergence of primary symptoms. This study aimed to use count regression models to compare their fit and to identify factors affecting delay in the diagnosis of MS. Methods: Data were collected from the Nationwide MS Registry of Iran (NMSRI) for Mazandaran Province, Iran, using census sampling until April 2022. The four models of Poisson regression, negative binomial (NB) regression, zero-inflated Poisson (ZIP) regression, and zero-inflated negative binomial (ZINB) regression were used in this study. Results: In this study on 2894 patients, 74.0% were women, and 8.5% had a family history of MS. The mean ± standard deviation (SD) of the patients' age was 34.96 ± 9.41 years, and the mean delay in diagnosis was 12.32 ± 33.26 months, with a median of 0 (Q1-Q3: 0-9). The NB regression model showed the best performance, and factors, including a history of hospitalization and the year of symptom onset, had significant effects on a delayed diagnosis. Besides, the Expanded Disability Status Scale (EDSS) score was significantly different before and after 2017; it was also associated with sex, type of MS, and history of hospitalization. Conclusion: The mean diagnostic delay and the mean age of MS diagnosis are critical in Mazandaran Province. Patients with MS develop the disease at an early age and are diagnosed with a long delay. The time of symptom onset is a significant factor in the diagnosis of MS, and in recent years, there have been improvements in the diagnostic process.

Explaining differences in autism detection timing: Age of diagnosis and associated individual and socio-familial factors in Chinese children.

Timely detection is an issue of paramount importance in the care of children with autism spectrum disorder. Whether the delayed autism spectrum disorder diagnosis can be explained by children's clinical presentations and socio-familial status in China is a question to be addressed. We investigated 1235 autism spectrum disorder children from 132 rehabilitation organisations in Shenzhen, China. These children were found to have a mean age of diagnosis of 31.4 ± 12.7 months and a median age of diagnosis of 30.0 months. The majority of these children were able to receive their diagnosis during toddlerhood. However, about one in six were not diagnosed until they entered preschool or later, thus missing the golden window of opportunity for early intervention. The age of diagnosis was likely to be late if the children were older, were less severe and presented with no intellectual impairment. The odds of having a delayed autism spectrum disorder diagnosis were more than 9 times higher among migrant autism spectrum disorder children than among those with local household registrations, thus underscoring the importance of identifying culturally sensitive socio-economic determinants in autism spectrum disorder detection, as these factors are likely to affect the quality of life of many autism spectrum disorder children and their families.

Warthin-like papillary thyroid carcinoma: a case report and comprehensive review of the literature.

Papillary Thyroid Carcinoma (PTC) is the most frequent endocrine malignancy with a variety of histological presentations. Warthin-like Papillary Thyroid Carcinoma (WLPTC) is an uncommon neoplasm that is recognized as a distinct subtype of PTC in the WHO classification of thyroid tumors. In this report, we present a novel case of WLPTC in a female patient and provide an in-depth review of the available literature on its clinical, pathological, and therapeutic characteristics. A 27-year-old female patient was referred for neck swelling. Ultrasound showed two suspicious thyroid nodules leading to a thyroidectomy. She was diagnosed with intermediate-risk bifocal foci of classic PTC and WLPTC, arising from a background of chronic lymphocytic thyroiditis (CLT). This pT1b(m) N1b M0 malignancy was treated with adjuvant isotopic ablation and suppressive thyroxine therapy. The 1-year outcomes were favorable. It covered articles published from 1995 to 2022, by searching PubMed and Google Scholar using specific terms. Out of 148 articles reviewed by two authors, 25 relevant articles were selected, including 13 case reports and 12 case series. The study included 150 cases of WLPTC. Data related to clinical presentation, imaging, histological features, management, and outcomes, were extracted. The mean age of diagnosis was 39 years, with a female predominance. The most common clinical presentation was neck swelling. Thyroid autoimmunity was positive in 71.6% of patients. Lymph node metastases were present in 28% of cases, with no reported distant metastases. Overall, the outcomes were favorable. WLPTC shares similar clinical and radiological presentations as classic PTC. The hallmark histological features of WLPTC are papillae lined with oncocytic tumor cells with papillary nuclear changes and lymphoid stroma. WLPTC is almost constantly associated with CLT. The management of WLPTC aligns with that of classic PTC with comparable stage and risk category, often resulting in favorable outcomes.

Impact of race/ethnicity and socioeconomic status on incident and prevalent esophageal cancer in patients with Barrett's esophagus.

The impact of race/ethnicity (RE) or socioeconomic status (SES) on progression from Barrett's esophagus (BE) to esophageal cancer (EC) is not well established. We aimed to evaluate the association between demographic factors and SES on EC diagnosis in an ethnically diverse BE cohort. Patients aged 18-63 with incident BE diagnosed in October 2015-March 2020 were identified in the Optum Clinformatics DataMart Database. Patients were followed until the diagnosis of prevalent EC <1year or incident EC ≥1year from BE diagnosis, or until the end of their continuous enrollment period. Cox proportional hazards analysis was used to determine associations between demographics, SES factors, BE risk factors, and EC. Demographics of the 12,693 patients included mean age of BE diagnosis 53.0 (SD 8.5) years, 56.4% male, 78.3% White/10.0% Hispanic/6.4% Black/3.0% Asian. The median follow-up was 26.8 (IQR 19.0-42.0) months. In total, 75 patients (0.59%) were diagnosed with EC (46 [0.36%] prevalent EC; 29 [0.23%] incident EC), and 74 patients (0.58%) developed high-grade dysplasia (HGD) (46 [0.36%] prevalent HGD; 28 [0.22%] incident HGD). Adjusted HR (95% CI) for prevalent EC comparing household net worth ≥$150,000 vs. <$150,000 was 0.57 (0.33-0.98). Adjusted HRs (95% CI) for prevalent and incident EC comparing non-White vs. White patients were 0.93 (0.47-1.85) and 0.97 (0.21-3.47), respectively. In summary,a lower SES, captured by the household net worth, was associated with prevalent EC. There was no significant difference in prevalent or incident EC among White vs. non-White patients. EC progression in BE may be similar among racial/ethnic groups, but SES disparities may impact BE outcomes.

Pregnancy, parturition and postpartum considerations among patients with vulvar lichen sclerosus: A retrospective cross-sectional online survey.

Characterise VLS and obstetric considerations among women during pregnancy, parturition and postpartum. Retrospective cross-sectional online survey, 2022. International, English-speakers. Self-identified individuals aged 18-50 diagnosed with VLS with symptom onset prior to pregnancy. Participants recruited from social media support groups and accounts, completed a 47-question survey including yes/no, multiple answer, and free-text responses. Data were analysed with frequency, means and the Chi-square test. VLS symptom severity, mode of delivery, perineal laceration, source and sufficiency of information provided about VLS and obstetrics, anxiety about delivery, and postpartum depression. Of 204 responses, 134 met inclusion criteria, encompassing 206 pregnancies. Mean respondent age was 35 years (SD 6) and mean age of VLS symptom onset, diagnosis and birth, was 22 (SD 8), 29 (SD 7) and 31 (SD 4) years, respectively. Symptoms decreased in 44% (n = 91) of pregnancies and increased during the postpartum period in 60% (n = 123). In all, 67% (n = 137) of pregnancies resulted in vaginal birth and 33% (n = 69) in caesarean birth. Anxiety for delivery due to VLS symptoms was reported by 50% (n = 103); 31% (n = 63) experienced postpartum depression. Of respondents previously diagnosed with VLS, 60% (n = 69) used topical steroids prior to pregnancy, 40% (n = 45) were treated during pregnancy and 65% (n = 75) postpartum. In all, 94% (n = 116) reported receiving an insufficient amount of information on the topic. In this online survey, we found reported symptom severity remained unchanged or decreased during pregnancy, but increased postpartum. Use of topical corticosteroids decreased during pregnancy compared with before and after pregnancy. Half of the respondents reported anxiety regarding VLS and delivery.

Study of Symptom Severity and Adherence to Therapy of Myelofibrosis Patients Treated with Ruxolitinib.

We aimed to explore symptom severity and adherence to therapy for patients with myelofibrosis treated with ruxolitinib in Bulgaria. It is a prospective, non-interventional study performed at the specialized hospital for active treatment of hematological diseases in Sofia during 2022-2023. Date of diagnosis, demographic characteristics, clinical indicators, ruxolitinib dose, and other data points were collected. Clinical indicators were assessed at baseline, in the middle, and at the end of observation. Severity of symptoms was measured with MPN-SAF TSS and adherence to therapy with the Morisky 4 questionnaire six times during the observation. The mean age of diagnosis was 58.5 years, with the average duration of disease of 3 years. Patients' laboratory results were within physiological ranges, with spleen size experiencing a constant decrease. The average value for the severity of the symptoms per MPN-SAF TSS results decreased significantly, indicating better disease control. The average adherence to therapy did not change and remained high at around 9 points, except for one patient. In conclusion the treatment of myelofibrosis patients with ruxolitinib decreased symptom severity and spleen size. Patients were adherent to the therapy over the observed period, but as treatment duration increases, the risk of adherence decreases.