Mean Delay In Diagnosis Research Articles

MON-143 Diabetic Ketoacidosis Confounding Diagnosis of Acromegaly with Microadenoma

Introduction: Acromegaly is a chronic endocrine disorder caused by excess secretion of GH. Due to the pulsatile nature of GH secretion, random GH levels do not necessarily correlate with the disease severity. Diagnosis of acromegaly is suggestive when IGF-1 levels are elevated. It can be further confirmed by demonstrating the failure of GH suppression with oral glucose tolerance test. Diabetes is a common complication of Acromegaly due to the GH hormone’s anti- insulin effect. However, the diagnosis of Acromegaly with co-existent uncontrolled DM may prove to be challenging. In the setting of uncontrolled DM, IGF-1 level may be normal, thus confounding the diagnosis of acromegaly. Case: Here we report a case of a newly diagnosed Acromegaly presenting with DKA as its initial manifestation with normal IGF-1 level and subsequently found to have microadenoma on imaging study. IGF-1 levels were confirmed to be elevated on subsequent visits after glucose optimization. Discussion: Manifestations of acromegaly present insidiously and evolve over many years, thus eluding a prompt diagnosis. The mean delay of acromegaly diagnosis from the onset of symptoms is approximately 9 years. Acromegaly is a disease process that has multiple negative consequences including impaired glucose tolerance, resistance and diabetes. Approximately 1% of patients with acromegaly present with DKA as its initial manifestation. Combination of lipotoxicity and glucose toxicity as a result of excess Growth Hormone may lead to a relatively insulin deficient state, predisposing to the development of DKA. IGF-1 levels can be altered by malnutrition, anorexia nervosa, liver cirrhosis, renal failure inflammatory diseases, malignant tumors and uncontrolled DM. Normal IGF-1 levels in the setting of DKA or uncontrolled diabetes can therefore erroneously lead a practitioner to exclude the diagnosis of acromegaly. Re-measuring IGF-1 levels after glucose control is imperative. Conclusion: Even though acromegaly with normal IGF-1 levels in the context of uncontrolled DM has been described in the literature, DKA and concomitant acromegaly is a rare presentation. According to literature review there are 22 reported cases where patients presented with DKA in combination with Acromegaly. Notably all cases were found to have pituitary macro-adenoma on MRI. We are reporting the case of Acromegaly presenting with DKA, microadenoma on MRI and normal IGF-1. Our case illustrates that normal IGF-1 levels in the setting of uncontrolled DM/DKA does not exclude acromegaly. As a result, the diagnosis of Acromegaly in the setting of DKA can be challenging. A clinician must be very vigilant and pursue further investigative workup if the clinical suspicion for acromegaly is high in patients presenting with DKA and normal IGF-1 levels.

An ambispective cohort study on treatment outcomes of patients with epilepsy in a tertiary epilepsy center in Rwanda and recommendations for improved epilepsy care.

SummaryObjectiveBecause outcome data inform and drive healthcare decisions and improvement of patient care, this study aimed to gain a deep understanding of sociodemographic profiles and treatment outcomes of newly presenting and recently diagnosed persons living with epilepsy (PwE) at a tertiary epilepsy center in Rwanda.MethodsIn June 2016 (T1), as a first stage of this single‐center cohort study, an ambispective chart review was conducted on baseline sociodemographic and disease characteristics of PwE using a structured questionnaire. Missing data were obtained by phone interview. In 2017, follow‐up data were collected by phone interview on treatment outcomes after 15‐months (T2).ResultsOf 406 PwE screened, 235 were included at T1 and outcomes on 166 PwE were obtained at T2. More than 70% were <20 years of age, with a male preponderance. A high number of patients were aged ≥20 years, were single (67.4%), unemployed (41.5%), and had no formal education or primary level education (53.9%), possibly reflecting stigma. A mean delay in diagnosis since first seizure increased with age at first seizure, amounting to 3 years for patients aged ≥20 years. At T2, 69.6% of 166 patients who could be contacted reported no seizures in the previous month. Valproate monotherapy was the most frequently prescribed treatment. At T2, 47% had discontinued treatment, which was often not recommended by a physician, despite medical insurance coverage in >90% of patients. Only 19% reported an adverse event. Marked and partial improvement in quality of life (QoL) was reported by, respectively, 50.9% and 32.7% of patients.SignificanceEncouraging results on improved seizure control and QoL were observed at follow‐up. The treatment gap remains high due to loss to follow‐up and treatment discontinuation. In this article, we discuss needs and recommendations for improving patient care, requiring concerted efforts of stakeholders at all levels of the healthcare system.

Tumor-induced osteomalacia: experience from three tertiary care centers in India.

Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome characterized by recalcitrant hypophosphatemia. Reports from the Indian subcontinent are scarce, with most being single center experiences involving few patients. Herein, we conducted a retrospective analysis of 30 patients of TIO diagnosed at three tertiary care hospitals in India. Patients with persistent hypophosphatemia (despite correction of hypovitaminosis D), normocalcemia, elevated alkaline phosphatase, low TmP/GFR and elevated or ‘inappropriately normal’ FGF23 levels were labeled as having TIO. They were sequentially subjected to functional followed by anatomical imaging. Patients with a well-localized tumor underwent excision; others were put on phosphorous and calcitriol supplementation. The mean age at presentation was 39.6 years with female:male ratio of 3:2. Bone pain (83.3%) and proximal myopathy (70%) were the chief complaints; 40% of cases had fractures. The mean delay in diagnosis was 3.8 years. Tumors were clinically detectable in four patients (13.3%). The mean serum phosphate was 0.50 mmol/L with a median serum FGF23 level of 518 RU/mL. Somatostatin receptor-based scintigraphy was found to be superior to FDG-PET in tumor localization. Lower extremities were the most common site of the tumor (72%). Tumor size was positively correlated with serum FGF23 levels. Twenty-two patients underwent tumor resection and 16 of them had phosphaturic mesenchymal tumors. Surgical excision led to cure in 72.7% of patients whereas disease persistence and disease recurrence were seen in 18.2% and 9.1% of cases, respectively. At the last follow-up, serum phosphate in the surgically treated group was significantly higher than in the medically managed group.

Clinico-Investigative Profile of Hereditary Spastic Paraplegia in Children.

Introduction:Hereditary spastic paraplegia (HSP) is a group of neurogenetic disorders seen mainly in adults. With the advancement in genetics, more than 78 types of HSP have been identified, with increasing identification of HSP in children. However, there is scant literature on this from India.Materials and Methods:Retrospective chart review of patients with HSP diagnosed in the last 6 years was done. The data were extracted and analyzed.Results:A total of 11 patients had a diagnosis of HSP (genetically confirmed), with mean age of presentation at 21.7 months. The main symptom at the time of presentation was delayed walking and/or abnormal gait in the form of tip-toeing and scissoring of limbs. The mean delay in diagnosis was 5.2 years after initial presentation. MRI of the presented children showed mainly thinning of corpus callosum and white-matter changes. All of them had gradual worsening spasticity, despite physiotherapy and drugs. Except one, all children had recessive form of spastic paraplegia. Child with autosomal dominant spastic paraplegia had heterozygous mutation in SPAST gene, which is known to present in the first 2 years of life.Conclusions:HSP is probably not uncommon. Recessive form of HSP is more frequently seen in children. Because of lack of awareness, there is delay in reaching the final diagnosis.

Delays in diagnosis in patients with pulmonary and extrapulmonary sarcoidosis

Aim: Sarcoidosis is a multisystemic disease with typical or atypical pulmonary and extra-pulmonary symptoms or frequently without symptoms. Presence of typical clinical findings and symptoms contribute to rapid diagnosis, whereas asymptomatic progression leads to delays in the diagnosis. The aim of this study was to investigate the delay in diagnosis in between patients with pulmonary and/or extra-pulmonary involvement and related symptoms and those without symptoms. Material and Methods: Patients in the sarcoidosis clinics between 2010-2015, were retrospectively evaluated. The cases were grouped according to the presence or absence of symptoms (pulmonary and/or extra-pulmonary). The groups were compared with regard to the delay in diagnosis. Results: Among the 300 patients, 209 (69%) were female. The mean age was 43±11.68. The disease was stage I in 67.3%, stage II in 23.7%, stage III in 5.7% and stage 0 in 3.3% of the patients. No significant difference was observed between symptomatic and asymptomatic patients with regard to total duration until diagnosis (p=0.78). A statistically significant difference was observed between patients groups with regard to physician-related delayed diagnosis(p=0.026). The mean delay in physician-related diagnosis was observed to be longer in asymptomatic cases (21.44 days) compared to patients with pulmonary symptoms (13.66 days)(p=0.036). In asymptomatic cases, the mean duration of physician-related delayed diagnosis (21.44 days) was observed to be longer in comparison with patients with extra-pulmonary symptoms (12.79 days)(p=0.016). In patient-related delayed diagnosis, no difference was observed between groups with regard to the duration until diagnosis(p=0.78). Conclusion: Comparison of delayed diagnosis between patients with or without pulmonary and/or extra-pulmonary symptoms revealed a longer duration of delay in asymptomatic cases compared to symptomatic cases. The timing of diagnosis is very important in sarcoidosis in order to reduce morbidity and mortality; a suspicious approach to asymptomatic patients will increase the possibility of diagnosis and prevent delayed diagnosis.Keywords: Sarcoidosis; diagnosis; delay; extrapulmonary symptoms.

Chronic Symptomatic Ankle Avulsion Fracture

Category: Ankle Introduction/Purpose: Persistent pain and instability following inversion or eversion injuries of the ankle is not rare. Besides injury of lateral or medial ligaments, avulsion fracture of lateral or medial malleolus could be found in some cases. The avulsion fracture may result in nonunion and/or ligamentous laxity which could lead to chronic ankle pain. The purpose of this study was to evaluate the intraoperative findings and long-term outcomes of patients of symptomatic ankle avulsion fracture. Methods: 23 patients of ankle avulsion fracture along with chronic ankle pain and instability were studied. Tenderness and swollen at lateral and/or medial gutter were found and radiographic images were taken for the diagnosis. After at least 6 months of unsuccessful non-operative treatment, all patients underwent surgery of osseous fragments excision and anatomic ankle ligaments reconstruction. AOFAS-AH and VAS Score were given to assess the outcomes of surgery. Results: There were 21 males and 9 females among the patients. The average age of the patients was 24.6 years (range, 18-45 years) at the time of injury and 27.3 years (range, 18-46) at the time of surgery, indicating a mean delay in diagnosis and/or treatment of 2.7 years. At a mean follow-up of 2.6 years (range, 1 to 5.2 years), the average AOFAS-AH Score increased from 72.5 to 93.2 out of 100 (P&lt;0.05), the average VAS score decreased from 6.2 to 1.2 (P&lt;0.05). Conclusion: For those patients of ankle avulsion fracture presenting with chronic ankle pain and instability, surgical excision of the bony fragment combined with reconstruction of ankle ligaments were effective in eliminating pain, restoring ankle stability, and helping return to the pre-injury functional level.

MALIGNANT TUMORS OF FOOT: WHAT ARE THE OUTCOMES?

Introduction: We have analyzed the clinical features and outcomes of malignant tumors of foot. Methods: Between January 2010 to January 2017, 21 patients of malignant tumors of calcaneum and talus were treated. These included 14 cases of osteosarcoma, 7 cases of Ewing’s sarcoma. Talus was involved in 8 cases and calcaneum involved in 11 cases. Mean follow-up for all patients was 30 months (range 24–70 months). Results: In osteosarcoma of calcaneum and talus the presenting symptom was local pain in 63% and swelling in 37%. Patients with Ewing’s sarcoma presented with swelling in 100% cases. The mean delay in diagnosis for osteosarcoma and Ewing’s sarcoma was 8.8 months (range 6–12 months) and 9.5 months (range 6–12 months), respectively. Patients with delay in diagnoses of more than six months and less than six months had disease free survival of 11.5 months and 15 months, respectively and [Formula: see text] value 0.3. Patients with delay in diagnoses of more than six months and less than six months had metastases in 5 and 1cases, respectively. The mean disease free interval (DFI) for osteosarcoma and Ewing’s sarcoma was 16 months and 5.5 months, respectively. The correlation between osteosarcoma and Ewing’s sarcoma of calcaneum and foot with delay in diagnosis and DFI did not reach statistical significance ([Formula: see text] value 0.93 and 0.14, respectively). Conclusion: An index of suspicion, proper examination with close scrutiny of the radiographs is required in patients presenting malignant of bones of foot. Osteosarcoma of calcaneum and talus most commonly presented with local pain and Ewing’s sarcoma present with swelling. The time interval between the onset of symptoms and diagnosis (delay in diagnosis) for calcaneum and talus osteosarcoma was similar to Ewing’s sarcoma.

PULMONARY HYDATIDOSIS- STILL UNRECOGNIZED IN ENDEMIC REGIONS: A 10 YEAR REVIEW.

Background. Echinococcus disease in still endemic in many low-middle-income countries, with 1 million people infected at any one time. Surgery, the mainstay of its treatment, is costly. Objectives. To describe the presentation, clinical features and outcomes of children referred with pulmonary hydatid disease at Inkosi Albert Luthuli Central Hospital in Durban, South Africa. Methods. A 10-year review of children with pulmonary hydatid disease at Inkosi Albert Luthuli Hospital was carried out. The data collected were demographic, clinical, laboratory and radiological. Cases were mapped geographically to analyse for clustering of cases. Spearman’s correlation was used to assess for correlations between laboratory markers. Results . A total of 24 subjects, 75% of whom were male, were included. The mean (standard deviation) age at diagnosis was 8.9 (3.4) years. The mean delay in diagnosis was 5.8 (5.7) months. Of the subjects, 15 (71.4%) were from the Eastern Cape and 9 from KwaZulu-Natal provinces. Seventy-nine percent of the patients had been exposed to dogs, while 8% reported exposure to either sheep or cattle. There was right-sided preponderance, with 11 right- and 7 left-sided cysts; 6 patients had bilateral cysts, and 4 associated extrapulmonary cysts. Indirect haemagglutination assay was positive in 70%, and blood eosinophilia was present in 45% of the subjects, with no correlation between the two markers ( p =0.22). Surgery was the only modality of treatment in 18 (75%) subjects, while 5 had had prior medical therapy for disseminated disease. The mean intensive care stay postoperatively was 2 (2) days with no mortality. Conclusion. Despite exposure to known risk factors and living in endemic regions, there is often a significant delay in diagnosis of pulmonary hydatid disease at Inkosi Albert Luthuli Hospital.

Factors associated with the delay of diagnosis of leprosy in north-eastern Colombia: a quantitative analysis.

To determine the average time in months between the beginning of symptoms and the diagnostic confirmation of leprosy by the health system and to investigate factors associated with diagnostic delay. A total of 249 patients older than 15years diagnosed with leprosy between 2011 and 2015, in 20 endemic municipalities of north-eastern Colombia, provided informed consent and were interviewed face-to-face. Clinical histories from health centres or hospitals where study participants were treated for leprosy were also reviewed. The mean delay in diagnosis of leprosy was 33.5months. About 14.9% of patients showed a visible deformity or damage (disability grade 2, DG2) at the time of diagnosis. In multivariable regression analysis, five or more consultancies required to confirm the diagnosis and not seeking care immediately after noticing first symptoms were associated with longer diagnostic delay. Our study found a significant delay in diagnosis of leprosy in north-eastern Colombia, which might explain the continuously high rate of DG2 among new cases being notified in the country. Both patient- and health system-related factors were associated with longer diagnostic delay. Interventions to increase awareness of disease among the general population and timely referral to a specialised health professional are urgently needed in our study setting.

Potential delay in the diagnosis of vulvar cancer and associated risk factors in women treated in German gynecological practices.

The goal of this study was to estimate a potential delay in the diagnosis of vulvar cancer and identify associated risk factors in women treated in gynecological practices in Germany. The current study sample included 1,652 women from 218 gynecological practices who received an initial diagnosis of vulvar cancer (ICD 10: C51) between January 2000 and December 2015 (index date). After applying several exclusion criteria, 505 non-cancer controls were matched (1:1) to 505 vulvar cancer cases based on age, health insurance status, and index date. The primary outcome was the delay in vulvar cancer diagnosis in women who had received an initial diagnosis of diseases of Bartholin's gland, inflammation of vagina and vulva, or other specified noninflammatory disorders of vulva, including atrophy, hypertrophy, and cyst. A logistic regression model was used to estimate the association between vulvar cancer and pre-defined diagnoses. The mean age was 60.8 years (SD = 15.6 years), and 4.8% of women had private health insurance coverage. Inflammation of vagina and vulva was diagnosed 328 days (SD = 95 days) prior to the detection of vulvar cancer. This delay was 186 days (SD = 196 days) in patients affected by diseases of Bartholin’s gland and 300 days (SD = 116 days) in those with other specified noninflammatory disorders of vulva including atrophy, hypertrophy, and cyst. The risk of vulvar cancer was positively associated with inflammation of vagina and vulva (OR = 2.28) and other specified noninflammatory disorders of vulva (OR = 5.39). The mean potential delay of vulvar cancer diagnosis ranged from 186 to 328 days.

Diagnostic Delay and Associated Clinical Features of Tuberculosis among Adult Patients with Acute Myeloid Leukemia in Doha, Qatar

Background: Tuberculosis is currently the world’s leading cause of death arising from a single infectious condition. While T cell mediated immunity is recognized to have a major contribution to tuberculosis activation, the present investigation confirmed that TB was more prevalent among patients with acute myeloid rather than lymphoid leukemia and such association was frequently overlooked. The primary objective of this study is to estimate the diagnostic delay of tuberculosis among patients with acute myeloid leukemia (AML) and compare it to the general population in Qatar. Secondary objective is to study the clinical and epidemiologic characteristics of tuberculosis in patients with AML. Methods: This is a retrospective study of tuberculosis cases diagnosed in subjects with AML during the period from January 2008 till December 2016. Results: Among 215 subjects with AML identified during the study period, 12 (5.58%) received the diagnosis of tuberculosis. The estimated incidence of tuberculosis among AML cases was 7.14 cases per 1000 per year. The mean delay in diagnosis of tuberculosis was 64.2 days (95% CI: 26.8 - 101.5) and the median was 45 days (interquartile range; Q1 - Q3, 29.5 - 97.5). Prolonged fever was the most common presentation (100% of cases). Parenchymal lung involvement was the most common radiologic abnormality (83.3% of cases). Three patients (25%) died and 8 patients completed 9 to 12 months of anti-tuberculous treatment with clinical and radiological remission. Conclusion: Infections caused by Mycobacterium tuberculosis are not uncommon in patients with AML especially in patients from tuberculosis endemic regions. It constitutes a diagnostic challenge so high index of suspicion is of paramount importance.

Phenotypic stratification and genotype–phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion

GNE myopathy is a rare distal myopathy, caused by mutations in the GNE gene, affecting sialic acid synthesis. Clinical presentation varies from asymptomatic early stage patients to severely debilitating forms. This first report describes clinical presentations and severity of the disease, using data of 150 patients collected via the on-line, patient-reported registry component of the GNE Myopathy Disease Monitoring Program (GNEM-DMP). Disease progression was prospectively analysed, over a 2-year period, using the GNE myopathy functional activity scale (GNEM-FAS). The average annual rates of decline in function were estimated at −9.6% and −3.2% in ambulant and non-ambulant patients respectively. 4.3% of participants became non-ambulant within one year. The mean time from onset to required use of a wheelchair was 11.9 years. Mean delay of genetic diagnosis from symptom onset was 5.2 years. Mutation specific analysis demonstrated genotype–phenotype relationships; i.e. p.Ala662Val may be associated with a more severe phenotype, compared to p.Val727Met. Patients with compound heterozygous mutation in epimerase and kinase domain appeared to have a more severe phenotype compared to patients with both mutations located within one domain. Acknowledging the limitations of the study, these findings suggest that the severity of the GNE mutations affects disease severity. The GNEM-DMP is a useful data collection tool, prospectively measuring the progression of GNE myopathy, which could play an important role in translational and clinical research and further understanding of genotype–phenotype correlations.

Surveillance of Primary Immunodeficiency Disorders in Mofid Children's Hospital: A 10-year retrospective experience

Background: Primary immunodeficiency disorders comprise a heterogeneous group of diseases in which there is a defect in the development or function of the immune system. Clinical presentation of these disorders is highly variable. The aim of this study was to determine the frequency and type of primary immunodeficiency disorders, diagnostic delay, common pathogenic microorganisms, and infectious complications in patients, admitted to Mofid Children’s hospital in the past decade (2004 - 2014). Methods: The data of patients with a diagnosis of primary immunodeficiency disorder, admitted to Mofid Children’s hospital from 2004 to 2014, were reviewed. The frequency, diagnostic delay, pathogenic microorganisms, and their sequelae were determined. Results: In 32 patients (20 males and 12 females) admitted to Mofid hospital in the past decade, chronic granulomatous disease was the most frequent primary immunodeficiency disorder (22%). Other immunodeficiency disorders in these patients included X-linked agammaglobulinemia, hyper IgM syndrome, common variable immunodeficiency, severe combined immunodeficiency, ataxia-telangiectasia syndrome, transient hypogammaglobulinemia of infancy, leukocyte adhesion deficiency, and Kostmann syndrome. The mean age at onset of these disorders was 15 months, and the mean delay in diagnosis was 20 months. Pneumonia was the most common infectious manifestation (53%), and Acinetobacter was the most common isolated microorganism. Conclusions: Diagnostic delay is a major concern in patients with primary immunodeficiency disorders. Ethnic and geographical differences may significantly influence the frequency and presentation of these disorders. Therefore, local epidemiological data are always necessary and useful in the management of primary immunodeficiency disorders.

Spinal cord tumors in children: A review of 21 cases treated at the same institution

IntroductionSpinal cord tumors in children (SCTC) are rare with a frequent diagnostic delay. Its management is multidisciplinary and challenging due to functional implications. The position of surgery is now better established but the role and timing of chemotherapy (CT) and radiotherapy (RT) still remains under debate. Adverse effects of treatments are important to be taken into account, in the follow-up of these children. The aim of this paper was to present a series of 21 cases of SCTC treated at the same institution, to briefly present clinical features, treatments and outcome, with a special focus on spinal deformities in children with this condition. Material and MethodsTwenty-one consecutive SCTC were referred to our institution from 1990 to 2014. Data regarding age, sex, diagnostic delay, clinical examination, MRI, surgery, pathology, other treatment (CT and RT), orthopedic issues and follow-up of these children were retrospectively recorded. ResultsMean age was 8years (standard deviation: 5.2years) (range: 4 months–17years). Mean diagnosis delay was 5.5 months (standard deviation: 6.5 months) (range: 0 days–18 months). All children (10 girls, 11 boys) were operated on (10 partial removals, 7 subtotal and 4 gross total removals) as first-line treatment. Pathological results showed 12 juvenile pilocytic astrocytomas, 1 grade III astrocytoma, 1 grade IV astrocytoma, 3 oligodendrogliomas, 2 ependymomas, 1 glioblastoma and 1 rhabdoid tumor. Fourteen children (66.7%) received additional treatment: 12 CT and 7 RT. Ten children had postoperative spinal deformities. Mean follow-up (FU) was 71 months (5 months–180 months), with a median FU at 60 months, where 8 tumor progressions and 4 deaths were observed. Overall, survival (at 5years) was 81% and progression free survival (at 5years) was 67%. ConclusionSurgery is the goal standard for SCTC and the only appropriate treatment in cases of a low-grade lesion with stable disease on MR follow-up. Additional treatment must be reserved for high-grade lesions or tumor progression not attainable by a second look surgery. Spinal deformities are a frequent complication. Overall, survival and event free survival primarily depends on the pathology. Studies involving more centers are obligatory with the aim of collecting more cases and drawing more definitive conclusions regarding the management of these tumors.

A population-based study of chronic hepatitis C in immigrants and non-immigrants in Quebec, Canada

BackgroundImmigrants originating from intermediate and high HCV prevalence countries may be at increased risk of exposure to hepatitis C infection (HCV) in their countries of origin, however they are not routinely screened after arrival in most low HCV prevalence host countries. We aimed to describe the epidemiology of HCV in immigrants compared to the Canadian born population.MethodsUsing the reportable infectious disease database linked to the landed immigration database and several provincial administrative databases, we assembled a cohort of all reported cases of HCV in Quebec, Canada (1998–2008). Underlying co-morbidities were identified in the health services databases. Stratum specific rates of reported cases/100,000, rate ratios (RRs) and trends over the study period were estimated.ResultsA total of 20,862 patients with HCV were identified, among whom 1922 (9.2%) were immigrants. Immigrants were older and diagnosed a mean of 9.8 ± 7 years after arrival. The Canadian born population was more likely to have behavior co-morbidities (problematic alcohol or drug use) and HIV co-infection. Immigrants from Sub-Saharan Africa, Asia and Eastern Europe had the highest HCV reported rates with RRs compared to non-immigrants ranging from 1.5 to 1.7. The age and sex adjusted rates decreased by 4.9% per year in non-immigrants but remained unchanged in immigrants. The proportion of HCV occurring in immigrants doubled over the study period from 5 to 11%.ConclusionsImmigrants from intermediate and high HCV prevalence countries are at increased risk for HCV and had a mean delay in diagnosis of almost 10 years after arrival suggesting that they may benefit from targeted HCV screening and earlier linkage to care.

Imaging features and diagnosis of tuberculosis of the breast

To outline the pathophysiology, clinical presentation, imaging features, and relevant investigations of the different subtypes of breast tuberculosis (TB). A review was undertaken of all cases (33 in total) of breast TB presenting to Barts Health NHS Trust within a 10-year period, including patient demographics, imaging features, and route of diagnosis. Thirty-three cases of proven granulomatous TB of the breast were identified (11mastitis obliterans, 10 nodular caseous form, five sclerosing form, four disseminated disease, and three abnormal axillary lymph nodes). No cases of miliary breast TB were identified. Fine-needle aspiration cytology aided diagnosis in six patients (<20% of cases); however, the majority of patients required further investigation; namely core biopsy. Over a third of patients (12/33) had multiple clinic attendances prior to diagnosis. Mean delay in diagnosis was 3.7 months (median 0 months, IQR= 3). Breast TB is a rare challenging diagnosis with a wide range of imaging features. Core biopsy is essential for definitive diagnosis. A multidisciplinary approach involving surgeons, radiologists, TB consultants, and microbiologists is required, coupled with a high index of clinical suspicion in order to aid timely diagnosis, and initiate prompt treatment to reduce complications.

Prevalence and Mimics of Kleine-Levin Syndrome: A Survey in French-Speaking Switzerland.

Kleine-Levin syndrome (KLS) is a rare disease of unknown etiology, the diagnosis of which can be challenging. We aimed to estimate KLS prevalence in French-speaking Switzerland, and assess differences with mimicking conditions. In this cross-sectional study, KLS patients were identified through a population-based approach, including at our hospital and contacting all sleep-certified facilities and neurologists in French-speaking Switzerland. Furthermore, we identified patients referred to our center for suspected KLS that received other diagnoses. Relevant clinical data of these two groups was compared. We identified 7 patients with diagnosed KLS (6 since 2009), leading to a prevalence estimation of 3.19 per million (95% confidence interval: 1.55-6.59). Median age at diagnosis was 17 years (range: 12-19), 71.4% of them were men, and mean diagnosis delay after the first episode was 20.1 ± 10.9 months. We identified 9 mimic patients referred to our center; they differed from KLS patients by their higher age at disease onset (median: 15 [range: 12-16] vs. 19 [range: 16-64] years; p < 0.001), suspected KLS as referral reason (more frequent in mimics, p = 0.003), and the presence of precipitating factors (more frequent in KLS, p = 0.011). Among the mimic patients, 77% (versus 28% in KLS) had a psychiatric diagnosis. This study suggests a relatively higher KLS prevalence than previously reported. As compared to KLS, mimic patients have higher age at symptom onset, are more often initially referred for KLS suspicion, and have a higher prevalence of psychiatric disorders.

Clinical Profile and Survival Pattern of Wilson's Disease

Background and Aim: Wilson's disease is an inborn error of copper metabolism leading to excessive accumulation of copper in the body which damages primarily the liver and brain. The clinical presentation of Wilson disease is variable. We analysed the clinical profile, sensitivity of various diagnostic parameters, and survival pattern of patients from a period of 2011–2016. Methods: The medical records of all patients with definite diagnosis of WD, who were admitted in MCH Trivandrum from a period of 2011–2016 were analysed to obtain clinical manifestations. The survival status of patient was determined by a prospective follow up. The Kaplan–Meier survival curve and univariate Cox proportional hazards model were used to determine the survival pattern and risk for death. Results: A total of 33 patients were studied of which 17 (51.5%) were males and 16 (48.5%) were females. 26 (79%) patients presented with initial hepatic manifestations and 7 (21%) patients presented with initial neurological manifestation and all 7 patients with initial neurological presentation progressed to cirrhosis. Out of the total 33 patients with hepatic involvement 31 had cirrhosis, 2 presented with chronic hepatitis. Out of the cirrhotic patients 16 belonged to Child C, 10 belonged to Child B and 5 belonged to Child A. Mean age of onset of symptoms was 24.1 years. Most common symptom at disease onset for those with initial hepatic manifestation was jaundice 9 (34%) followed by ascites 7 (26%) UGI bleed in 3 (11%), haemolytic anemia in 2 (7%), pedal odema in 2 (7%), transaminitis, fatigue and hepatic encephalopathy in one each. For those with initial neurological manifestation tremor 6 (85%) was the commonest symptom at disease onset, and dysarthria was present in 2 patients along with tremor and one patient presented with psychiatric symptoms. Mean age at diagnosis was 25 years, for hepatic 24.2 years and neurologic 25.6 years (P value 0.77). Mean delay of diagnosis was 10.9 months, for neurologic 18.1 months, for hepatic 3.7 months with (P value 0.01). 23 (88%) patients with hepatic manifestation had kf ring and all 7 (100%) patients with neurological presentation had kf ring. S ceruloplasmin was <20 mg/L in all patients and mean ceruloplasmin value was 8.3 mg/L. 24 h urine copper was high (>100 mcg/day) in 24 (73%) patients and mean value was 246 mcg/day. Family history of Wilson disease was present in 4 patients. Out of 26 patients with hepatic presentation, 9 patients are alive and 17 died over a period of 5 year follow up. 4 patients underwent liver transplantation of which one died and 3 are doing well. The Kaplan Meier survival analysis provided an overall survival for the patients. The mean overall survival was 5.1 years, for hepatic 3.2 years and neurologic 14.3 years. Log rank test was done was done to assess any significant difference in survival between two groups and P value was significant (0.01). Cox proportional hazard analysis provided hazard ration of 7.71 times with confidence interval 0.989–60.19 for patient with hepatic presentation as compared to neurological presentation. Conclusion: There is significant delay in the diagnosis of Wilson's disease in patients with initial neurologic presentation compared to hepatic presentation. Patient with hepatic presentation had a significant mortality risk compared to those with neurological presentation. The author has none to declare.

Surgical Treatment of Urological Complications of Gynecological and Obstetric Surgeries at the University Hospital of Conakry Guinea

Objective: To analyze the management of urological complications of gynecologic and obstetric surgeries. Material and Methods: We retrospectively studied 39 patients hospitalized in the Department of Urology of the Conakry Teaching Hospital for urological complications of gynecological surgery, during 9 years. The epidemiological, diagnostic, surgical and outcome parameters have been analyzed. Results: The urological complications of gynecologic surgery represent 0.29% of admissions in the Department of Urology. The mean age was 31 years with extremes of 18 and 47 years. Etiological factors were dominated by caesarean section with 74.36% of cases. The main lesions observed were vesico-vaginal and uretero-vaginal fistulas respectively 43.6% and 41.2% of cases. The mean delay of diagnosis was 5 months (extreme: 7 days to 3 years). Urine leakage from the vagina was the main symptom. The surgical treatment consisted in 17 surgeries for vesico-vaginal fistulas, 16 surgeries for uretero-vesical reimplantation, 2 surgeries for termino terminal ureterorraphia, 2 surgeries for vesico-uterine fistulas and 1 surgery for hysterectomy. Healing was obtained in all ureteral injuries and we noted two cases of failure in vesico-vaginal fistula. Conclusion: urological complications of gynecologic surgery remain frequent. They are dominated by the vesico-vaginal and uretero-vaginal fistulas and the main etiology is caesarean section. The treatment is surgical in our context.

Particularités épidémiologiques, cliniques et évolutives des pneumopathies interstitielles au cours de la sclérodermie systémique

Pulmonary involvement during systemic sclerosis (SS) is dominated by interstitial lung disease and arterial pulmonary hypertension. It is about a retrospective study analyzing 65 cases of SS over a period of 13 years. We compared cases with and without interstitial lung disease. The diagnosis of SS was retained according to American College of Rheumatology (ACR)/EULAR 2013 criteria. The diagnosis of interstitial lung disease was retained in TDM and EFR. Pulmonary hypertension is defined by a pulmonary arterial pression higher than 25 mmHg. The mean delay of diagnosis of interstitial lung disease and the diagnosis was of 48 months (extremes 0-78 months). The comparison between both groups according to average age of the patients, prevalence of pulmonary hypertension, frequency of Raynaud phenomenon and trophic disorders did not find any significant difference. Lung involvement was associated with an esophageal involvement in 71% of the cases (P=0.059). Antibodies anti-Scl 70 were noted more frequently in patient's with interstitial lung disease (79% of the cases, P=0.001). Patients were treated with colchicine and vitamin E. A corticotherapy had been indicated at a single patient. The evolution of SS was marked by the stabilisation of the restrictive syndrome in 71.8% of the cases and a worsening in 25% of the cases. Early and appropriate diagnosis of SS and screening of lung involvement are essential for a early care.