Frequency Of Clinical Manifestations Research Articles

Genotype-Phenotype Correlations in 293 Russian Patients with Causal Fabry Disease Variants.

Fabry disease (FD) is a rare hereditary multisystem disease caused by variants of the GLA gene. Determination of GLA gene variants and identification of genotype-phenotype correlations allow us to explain the features of FD associated with predominant damage of one or another system, both in the classical and atypical forms of FD, as well as in cases with late manifestation and involvement of one of the systems. The study included 293 Russian patients with pathogenic variants of the GLA gene, which were identified as a result of various selective screening programs. Screening was carried out for 48,428 high-risk patients using a two-step diagnostic algorithm, including the determination of the concentration of the biomarker lyso-Gb3 as a first-tier test. Screening of atypical FD among patients with HCM was carried out via high-throughput sequencing in another 2427 patients. 102 (0.20%) cases of FD were identified among unrelated patients as a result of the study of 50,855 patients. Molecular genetic testing allowed us to reveal the spectrum and frequencies of 104 different pathogenic variants of the GLA gene in 293 examined patients from 133 families. The spectrum and frequencies of clinical manifestations in patients with FD, including 20 pediatric patients, were described. Correlations between the concentration of the lyso-Gb3 biomarker and the type of pathogenic variants of the GLA gene have been established. Variants identified in patients with early stroke were described, and the association of certain variants with the development of stroke was established. The results of a large-scale selective FD screening, as well as clinical and molecular genetic features, in a cohort of 293 Russian patients with FD are described.

Intraoperative picture of hip joint lesion in ankylosing spondylitis: data from a retrospective analysis

In population of Russian patients with ankylosing spondylitis (AS), the frequency of clinical manifestations (pain and limitation of functions) of coxitis reaches 56%. Total hip arthroplasty (THA) can be considered as the only alternative that can relieve the suffering of the patient. Radiography and magnetic resonance imaging are widely used methods for assessing structural damage to the hip joint in AS. However, at the moment these methods can’t allow us to fully describe the lifetime changes of these joints. The aim of the study: to analyze the external changes of the femoral heads (HF) and acetabulums during the THA in patients with AS. Materials and methods. The retrospective study included 170 patients with a reliable diagnosis of AS, who met the modified New York criteria of 1984, who were treated in the traumatological and orthopedic department of the V.A. Nasonova Research Institute of Rheumatology in the period from 1998 to 2020, all patients underwent THA as planned. Most of them were male (80.6%). The average age of patients was 38.1±11.3 years and the average duration of the disease since the onset of the first symptoms was 17.0±8.5 years. The duration of pain in hip joints before performing THA is 7.4±4.8 years. The assessment of macroscopic changes in the FH and acetabulum was performed intraoperatively. Results and discussion. Acetabulum protrusion was detected in 108 (63.5%) patients, bone cysts – in 65 (38.2%). Filling of acetabulum with granulation tissue was recorded in 155 (91.2%) patients, presence of osteophytes on its edges – in 153 (90%). Cartilage in the acetabulum was completely absent in 122 (71.8%) patients. FH deformation was detected in 98.2% of cases, erosion in 46.4%. Cartilage on FH was completely absent in 130 (76.5%) patients. In 119 (70%) patients, macroscopic signs of osteonecrosis of FH were found. 79 (46.4%) patients had ankylosis of the hip joint, including fibrous ankylosis – in 77.2% of patients and bone ankylosis – in 22.8%. Conclusion. In patients with AS, the necessity for THA occurs on average after 7.4±4.8 years from the moment of the appearance of first clinical signs of coxitis. In 70% of cases, the macroscopic picture of hip joint lesion was characterized by the development of Avascular necrosis of the femur head (AVNFH), in most patients there was no cartilage in the most loaded segments of acetabulum and FH, in almost half of cases – ankylosis of hip joint and mainly fibrous (77.2%).

Osteopathic status in people who have had a new coronavirus infection, 3–6 months after the disease

Introduction. According to Russian and foreign studies, the frequency of clinical manifestations that are character for post-COVID syndrome continues to grow in people who have undergone a new coronavirus infection. In this regard, an urgent task is to increase the volume of available treatment methods, including non-drug ones, and their reasonable inclusion in medical rehabilitation.The aim of the study was to assess the osteopathic status and complaints in people who had a new coronavirus infection 3-6 months after the disease and their changes after osteopathic correction.Materials and methods. In the period from May 2020 to September 2021, a prospective study was carried out at the bases of the medical part of the rotational camp of the Yamal-Nenets Autonomous Okrug and ANO «Tyumen Institute of Manual Medicine», Clinic of Family Osteopathy of Doctor Aptekar′. The work is based on the results of osteopathic correction of 218 patients aged 27–54 years (average age — 42,3±3,2 years) who had a new coronavirus infection 3–6 months before the start of the study and who have clinical symptoms that are character for post-COVID syndrome. All patients underwent an assessment of osteopathic status, and there was an analysis of medical records.Results. During the process of osteopathic diagnosis in the examined group, prior to treatment, there were revealed dominant somatic dysfunctions of the regions of the head, thoracic and lumbar. The following most significant local disorders were diagnosed in regional somatic dysfunctions: compression of sphenobasilar synchondrosis (29,8 %), somatic dysfunction of the dura mater of the Brain sag type (25,2 %), somatic dysfunctions of the abdominal (6,9 %) and pelvic (6 %) diaphragms, sigmoid colon (6,9 %) and pericardial ligaments (15,1 %). At the same time, patients had complaints indicating a violation of cognitive functions, disorders of the nervous, cardiovascular, respiratory systems and the musculoskeletal system. After the completion of osteopathic correction, the detection frequency of the above dysfunctions decreased statistically significantly (p≤0.05), and there was obtained a statistically significant (p≤0,05) positive dynamics in complaints. Positive dynamics persisted 3 months after the completion of the osteopathic correction course.Conclusion. This study made it possible to establish that in people who had a new coronavirus infection, in the period 3–6 months after the disease, the compression of sphenobasilar synchondrosis, somatic dysfunction of the dura mater (according to the Brain sag type), somatic dysfunction of the thoracic and pelvic diaphragms, sigmoid colon and pericardial ligaments were the most often detected. After the osteopathic correction, patients showed a statistically significant (p≤0,05) decrease of the detection frequency of these somatic dysfunctions, and a positive trend in complaints.

Changes in the frequency and clinical features of acute rheumatic fever in the COVID-19 era: a retrospective analysis from a single center.

SUMMARYOBJECTIVE:Coronavirus disease 2019 (COVID-19) pandemic resulted in significant changes in the frequency of many diseases. In this study, we aimed to investigate the changes in the frequency and clinical features of acute rheumatic fever (ARF) in this period and determine the effect of health measures taken against COVID-19 on this change.METHODS:The cases with initial attack of ARF between January 2016 and March 2022 in Ataturk University, Division of Pediatric Cardiology, were determined from the clinic’s database, and case per month ratios were calculated for each period, retrospectively. Also the frequency of the clinical manifestations was compared among patients before and during the outbreak.RESULTS:Frequency of the major clinical manifestations among patients before and during the outbreak was similar. On average, the number of cases reported per month in the years 2016, 2017, 2018, and 2019 are, respectively, 1.75, 2, 2.25, and 2.58. In the first 3 months of 2020, the average number of cases reported per month was 3.67. After the advent of the pandemic, in the period from April to December 2020 and from January to September 2021, an average of 0.56 and 0.22 cases were reported per month, respectively. The frequency of clinical features between patients diagnosed before and during the outbreak was similar.CONCLUSIONS:Our results indicated an important decrease in frequency of ARF, but no change in the clinical features of the disease during the COVID-19 pandemic. It is thought that this is the result of health measures taken for COVID-19. Children with an increased risk of acute rheumatic fever should be encouraged in terms of wearing mask, social distance, and cleaning, especially during the seasons when upper respiratory tract infections are common. Thus, a permanent decrease in the incidence of ARF and its recurrences may be achieved.

Clinico-Epidemiological Profile and Outcome of Children with IgA Vasculitis in Aseer Region, Southwestern Saudi Arabia.

Introduction: Immunoglobulin A (IgA) vasculitis is one of the most common forms of primary vasculitis in children; it typically has a benign course but can be aggressive and require intervention. Aim of the work: The aim of this retrospective study was to evaluate the epidemiological and clinical profile and treatment modalities used for children with IgA vasculitis in the southwestern region of Saudi Arabia. Material and Methods: We reviewed the medical records of 89 children admitted to Abha Maternity and Children Hospital in the southwestern region of Saudi Arabia from January 2016 to December 2020 with a confirmed diagnosis of IgA vasculitis according to the European League Against Rheumatism/Paediatric Rheumatology International Trials Organisation/Pediatric Rheumatology European Society criteria. Results: Eighty-nine children had a confirmed diagnosis of IgA vasculitis, with 50 boys (56.2%) and 39 girls (43.8%; male-to-female ratio of 1.28:1) and a mean age at diagnosis of 5.87 ± 2.81 years. The mean hospital stay duration was 5.66 ± 4.72 days. Infections preceded 29.2% of the cases, with upper respiratory tract infections comprising 24.7%. Approximately 31.5% of the cases were diagnosed in summer, followed by autumn in 28% of the cases. Rash was present in 100%, arthritis in 72.2%, gastrointestinal tract involvement in 60.7%, and renal involvement in 23.5% of cases. Thrombocytosis and leukocytosis were found in 35% and 46% of all cases, and 52.3% and 47.6.25% of cases with renal involvement, respectively (OR = 2.035, 95% CI: 0.75–5.52 and OR = 1.393, 95% CI: 0.522–1.716, respectively). Approximately 26% of cases experienced relapses. Treatment was conservative in 23.6%, oral prednisolone in 23.6%, and pulse steroid in 45% of cases. Abdominal pain with lower gastrointestinal tract bleeding was the primary indication for initiating pulse steroid treatment. Conclusions: There were similarities and differences in the epidemiology and frequency of clinical manifestations of patients with IgA vasculitis compared to previous studies. Children presenting with such epidemiological and clinical profile need to be closely monitored and long-term follow-up is recommended to improve the outcomes.

1359. Reported Neurologic, Ocular, and Otic Manifestations among Syphilis Cases — 16 States, 2019

BackgroundSyphilis can cause neurologic, ocular, or otic manifestations at any stage, possibly resulting in permanent disability or even death. In 2018, CDC began collecting clinical manifestation data for syphilis cases reported through the National Notifiable Diseases Surveillance System (NNDSS). We present the first estimates of the prevalence of neurologic, ocular, and otic manifestations among syphilis cases in the United States.MethodsWe reviewed NNDSS data to identify jurisdictions (states + DC) who reported ≥ 70% of their syphilis cases with clinical manifestation data (considered to have “complete reporting”) in 2019. Among these jurisdictions, we determined the prevalence of neurologic, ocular, and otic manifestations (combining verified, likely, and possible clinical manifestations together), stratified by HIV status and by syphilis stage (Unknown/late syphilis vs. Early syphilis [Primary, Secondary, and Early non primary non secondary syphilis]).ResultsIn 2019, 16 states had complete reporting for neurologic, otic, and ocular manifestations. Of the 41,216 syphilis cases reported in these jurisdictions, clinical manifestations were infrequently reported: neurologic (n=445, 1.1%), ocular (n=461, 1.1%), and otic (n=166, 0.4%). Prevalence was higher among HIV-infected persons compared to HIV-negative persons for neurologic (1.4% vs. 0.9%) and ocular manifestations (1.3% vs 1.0%) but was similar for otic manifestations (0.4% vs 0.4%). Prevalence was higher among persons diagnosed with Unknown/late syphilis compared to Early syphilis for neurologic (1.6% vs 0.8%) and ocular manifestations (1.6% vs 0.9%) but similar for otic manifestations (0.5% vs 0.4%); however, 49.4% of cases reported with ≥ 1 of these clinical manifestations were diagnosed with Early syphilis. ConclusionThe prevalence of neurologic, ocular, and otic manifestations was low among syphilis cases, but case data likely underestimate the true burden given potential underreporting. The frequency of clinical manifestations, including among HIV-negative persons and persons diagnosed with Early syphilis, emphasizes the importance of evaluating all syphilis cases for clinical signs or symptoms regardless of stage or HIV status.Disclosures All Authors: No reported disclosures

STUDY OF THE CLINICAL CHARACTERISTICS OF INDIVIDUALS WITH CHRONIC URTICARIA: A CROSS SECTIONAL STUDY

Introduction: Because of its continuous relapsing pattern and poor response to medication, chronic urticaria has a detrimental impact on sufferers' professional and social lives. Despite research improvements, the origin and cause of the varied intensity and frequency of clinical manifestation remains a mystery. Aim: The goal of this study was to look at the clinical profile of chronic urticaria in a tertiary care setting. Methods: The study comprised patients of both sexes aged 12 to 60 years old with a clinical diagnosis of chronic urticaria for which no cause could be identified using a standard technique. Results: The average age of the patients with chronic urticaria was 30.44 years, and females predominated, with a male to female ratio of 1:3. The average duration of urticaria was 27.84 months, and urticaria lesions disappeared in less than 30 minutes in 48% of patients. In 38 percent of cases, there was accompanied angioedema, and in 46 percent, there was delayed pressure urticaria. Limitations: The study's sample size was tiny, which constituted a constraint. Conclusions: Our study's clinical profile of chronic idiopathic urticaria is comparable to that of prior research. Keywords: Chronic urticaria, chronic idiopathic urticaria, chronic spontaneous urticaria

Clinical and Serological Features of Patients with Systemic Lupus Erythematosus in the Eastern Province of Saudi Arabia

Context: Systemic lupus erythematosus (SLE) is a systemic autoimmune disease that manifests differently across races. Aims: The aim of the study is to summarize the clinical and serological features of patients with SLE in Saudi Arabia and to determine the predictors of morbidity and mortality. Settings and Design: This was single-center prospective cohort study. Patients and Methods: We included SLE patients who met our selection criteria and followed prospectively and regularly between December 2016 and January 2020. We analyzed their symptoms, laboratory results, frequencies of clinical manifestations, causes of admission, and causes of death. We also assessed variables that predicted mortality. Statistical Analysis: Chi-square test was used to find the association between quantitative variables; survival analysis was done using Mantel–Cox method. Results: The mean age of the patients at diagnosis was 33.42 ± 12.9 years. The most common symptoms were arthritis (74.1%), malar rash (66.4%), and photosensitivity (64.7%). Renal involvement was seen in 17.2% of patients, with Class IV lupus nephritis (35%) being the most common. Patients aged ≤45 years had higher antinuclear antibody titers. Patients of African descents displayed higher rates of Class VI lupus nephritis and renal failure (25%). SLE caused deaths in 4.3% of patients, the main cause being infection (46.03%). There were obstetric complications in 27 (23.3%) patients; 28 (24.1%) vascular thrombosis events were noted, the most common being venous thrombosis (n = 21). Conclusions: Most patients were diagnosed at a young age. African patients displayed more severe disease in the form of renal symptoms, especially Class VI lupus nephritis. Infectious complications were the main cause of death.

Особливості перебігу та частота клінічних проявів полігландулярного синдрому IIIА типу у хворих, які проживають у йододефіцитному Тернопільському регіоні

Актуальність. Актуальною на сьогодні залишається проблема ранньої діагностики поєднаних ендокринопатій, таких як цукровий діабет (ЦД) 1-го типу, автоімунне ураження щитоподібної залози, надниркових залоз на тлі інших автоімунних патологій. Одним із проявів такого поєднання нозологій є автоімунний полігландулярний синдром (АПС), що характеризується послідовним або одночасним дефіцитом функцій декількох ендокринних залоз і включає широкий спектр автоімунних порушень не тільки ендокринної системи. Ризик розвитку АПС у пацієнтів, які мешкають на йододефіцитних територіях, зростає у декілька разів, що потребує більш ретельного обстеження та уваги. Мета. Вивчення особливостей перебігу та частоти клінічних проявів АПС ІІІА типу у жителів йододефіцитного Тернопільського регіону. Матеріали та методи. Обстежені 184 жінки із АПС ІІІА типу, які проживають на йододефіцитних територіях Тернопільщини. Вік обстежених становив від 19 до 74 років. Результати. В обстежених у Тернопільській університетській лікарні 73,14 % пацієнтів маніфестація АПС ІІІА типу починалася із ЦД 1-го типу. Патологію щитоподібної залози було діагностовано через 5–8 років після виявлення ЦД. Функціональні розлади патології щитоподібної залози проявлялися гіпотиреозом у 31,77 %, еутиреозом — у 48,96 % та гіпертиреозом — у 19,27 %. Компенсація ЦД досягалася важче у хворих із патологією щитоподібної залози з її функціональною недостатністю. Середні титри антитіл до тиреоїдної пероксидази (ТПО) становили 382,46 МО/мл. Максимальний показник антитіл до ТПО дорівнював 873,12 МО/мл. Встановлено, що у хворих із вищим показником антитіл до ТПО складніше було досягнути компенсації ЦД. Висновки. Всіх пацієнтів із ЦД 1-го типу в йододефіцитному регіоні доцільно обстежувати на наявність ознак ураження щитоподібної залози і АПС ІІІА типу.

Оценка состояния глазной поверхности у пациентов с отягощенным общесоматическим анамнезом. Ранняя диагностика, способы лечения и профилактики

Introduction. Modern computerisation, frequent use of contact correction, surgical interventions on the visual organ and long-term drug installations often lead to the formation and further progression of dry eye syndrome (DES) with subsequent increased sensitivity and inflammatory symptoms on the conjunctiva and cornea. Purpose. Evaluation of the condition of the eye surface in patients with a burdened general somatic history. Development of measures for prevention, diagnosis and comprehensive treatment of this condition. Material and methods. A retrospective analysis of disease histories and medical records of 108 patients (108 eyes) with phacoemulsification of uncomplicated cataract with IOL implantation was carried out. Patients were divided into three main groups based on the presence of burdening factors of somatic status and the course of the postoperative period: I group included patients with unburdened somatic status and no complications during the course of the postoperative period; II group included patients with burdened general somatic history with complications during the course of the postoperative period; 3rd group included patients with burdened general somatic history with complications during the course of the postoperative period. 3rd group of patients used a special scheme to prevent and treat inflammatory reactions from the eye surface. Results. 1st group patients were less likely to complain and had no clinical manifestations of conjunctival and corneal inflammatory responses. Accordingly, this group of patients did not require additional treatment, which is indicative of the low incidence of complications in this category of patients. II group patients who had been identified as predisposing factors for conjunctival and corneal inflammatory reactions and did not receive additional treatment were more likely to experience complaints and the frequency of clinical manifestations was 20% higher than III group patients. Patients in III group required additional treatment in the postoperative period. Conclusion. Prolonged prescription of high doses of drugs of different groups with different preservative and auxiliary substances content in patients after surgical intervention in some cases leads to damage to the conjunctival and corneal epithelium, which in turn causes an aggravation of symptoms of SSG with the development of inflammatory reaction of the conjunctiva and cornea. The application of preventive measures before and after the surgery leads to a significant reduction in the objective manifestations of the eye surface complications and, as a result, a reduction in the number of complaints from patients about discomfort in the postoperative period. Key words: ocular surface, dry eye syndrome, cataract, allergies, tear film stability.

The role of gender, age and localization in the clinical manifestation of the cerebral bifurcational-hemodynamic arterial aneurysms

Objective ‒ to evaluate the influence of age, gender and localization on the clinical manifestation of cerebral bifurcational-hemodynamic arterial aneurysms (AA).Materials and methods. The retrospective study is based on the results of a comprehensive examination and surgical treatment of 547 (100 %) patients with bifurcational-hemodynamic cerebral AA in the Department of neurosurgical pathology of head and neck vessels of Romodanov Neurosurgery Institute during the period from 2011 till 2019. Recruiting of the patient to the clinical groups was done during the period between 2011‒2016 with their follow-up examination until 2019. It were enrolled 268 ((49.0 ± 4.2) %) men and 279 ((51.0 ± 4.2) %) women with bifurcational-hemodynamic aneurysms. The age of the patients was 18‒84 years (mean age ‒ 49,0±12,2 year).Results. Clinical manifestation of the cerebral bifurcational-hemodynamic AA was more often seen in patients during working age (16‒60 years) — 430 ((78.5 ± 3.4) %) patients, more often in men (p˂0.05). The peak frequency of clinical manifestation of AA ‒ 34.2 % (187 patients) was seen in the age interval 51‒60 years (the male/female ratio ‒ 51.3 % (96) and 48.7 % (91)). In patients with AA, a significant predominance of women was observed in age group older 61 years (χ2 = 21.68, p <0.001, φ = 0.20). There was no statistically significant relationship between the frequency of clinical manifestation of AA and the patient’s age. However, there is a statistically significant relationship between gender and age in some locations. The percentage of patients with AA complex of the anterior cerebral-anterior communicating artery among women is 62.5 ± 15.0 (25/40, after 60 years it’s in 1.7 times higher than among men 37.5 ± 15.0 (15/40). While before the age of 61, there is a 1.6-fold increase in men, 61.3 ± 7.5 (100/163). For the internal carotid artery segments, the percentage of patients who underwent AA among women is 81.6 ± 12.0 (31/38), after 60 years it is in 4.4 times higher than among men 18.4 ± 12.0 (7/38). For the middle cerebral artery, the percentage among women is 73.1 ± 17.4% (19/26), after 60 years it is in 2.7 times higher than in men 6.4 ± 17.7% (7/26). Until the age of 61, the gender difference in the internal carotid artery and the middle cerebral artery segments does not reach a statistically significant level (p> 0.05). At other localizations, gender-age dependence was not observed. Multiple cerebral aneurysmal lesions were associated with clinical manifestation at the age of 41‒50 years in males with 3 AA.Conclusions. A statistically significant influence of age, gender and the presence of multiple cerebral AA on the clinical manifestation of the disease was revealed. Localization of AA did not affect the timing of the clinical manifestation.

Frequency of systemic involvement in patients with acute dengue fever - the expanded dengue syndrome: A retrospective review from a tertiary care hospital in Karachi

Background: Dengue is globally the most common arboviral disease. As the primary immunopathological target in dengue is the endothelium, presentations beyond the typical triad of fever, myalgias, and thrombocytopenia are increasingly encountered. Severe systemic organ involvement can occur even without evidence of dengue hemorrhagic fever (DHF). These manifestations of dengue have been termed the “expanded dengue syndrome” by WHO. Aim: To observe the types and frequency of organ involvement in patients admitted with acute dengue fever. Methods: This is a retrospective cross-sectional study. Records of patients above 18 years admitted with acute dengue fever from December 2016 to December 2017 were reviewed. Patients fulfilling WHO criteria for probable or confirmed acute dengue fever were included. Patients with definite laboratory evidence of other systemic infections and patients with autoimmune or hematological disease were excluded. Data were obtained for 129 patients and analyzed using IBM-SPSS-21. Frequencies of clinical manifestations and organ involvement were noted. Results: Gastrointestinal manifestations occurred in 89% of patients. Transaminitis, organomegaly, and serositis were common. About 19% had pulmonary involvement, and 9% of patients had neurological features. Renal dysfunction, dyselectrolytemia, ophthalmic, muscular, and lymphoreticular abnormalities were also seen. Conclusion: Systemic involvement in dengue is not uncommon, and organ dysfunction can occur in the absence of severe DHF. Recognition of myriad range of organ involvement is crucial for optimal management.

P4450Atherosclerosis in women with systemic lupus erythematosus with and without nephritis

Abstract Background Nephritis in systemic lupus erythematosus (SLE) is a factor contributing to early development of atherosclerosis (AS). Objectives The aim of the study is to determine differences in cardiovascular risk factors and AS in SLE pts with and without lupus nephritis (LN). Methods The study included 162 females, age 35 [26–43] years (median [interquartile range 25–75%])) with SLE (ACR,1997). We divided SLE pts on two groups, comparable in age: the 1st group is the pts with LN (n=84, 52%), the 2nd - without LN (n=78, 48%). We considered traditional factors of cardiovascular disease (CVD): (smoking, family history of CVD, blood pressure, cholesterol (total, HDL, LDL) and triglyceride (TG) levels, body mass index, diabetes mellitus) and SLE-related factors (age at onset, duration, clinical features, SLE Disease Activity Index (SLEDAI-2K) and the Systemic Lupus International Collaborating Clinics damage index (SLICC/DI), treatment with steroids); intima-media thickness (IMT) and the 10-year risk for coronary events. Carotid intima-media wall thickness of common carotid arteries was measured by high resolution B-mode ultrasound. The 10-year risk for coronary events was estimated by the Framingham risk equation. Results Median SLE duration was 8,0 [2,3–17,0] years, SLEDAI 2K – 8 [3–16], SLICC/DI score – 2 [0–3], duration of prednisone treatment – 72 [26–141] months. SLE pts from the 1st group had higher prevalence of hypertension (61% vs 36%, p<0,01), systolic blood pressure (130 [110–150] vs 120 [110–130]mm Hg, p<0,01), diastolic blood pressure (80 [70–95] vs 70 [70–80] mm Hg, p<0,05), TG concentration (136 [98–184] vs 100 [61–162] mg/dl, p<0,01), Framingham Risk Score (5 [1–30] vs 1 [1–27]%, p<0,05), SLEDAI-2K (12 [5–19] vs 4 [2–10], p<0,ehz745.08501), SLICC/DI score (2 [0–4] vs 0 [0–2], p<0,01), prednisone therapy duration (95 [26–192] vs 44 [14–98] months, p<0,05), prednisone cumulative dose (34,4 [13,6–82,5] vs 15,7 [6,2–35,2] g, p<0,001), mean IMT (0,73 [0,65–0,83] vs 0,67 [0,61–0,75] mm, p<0,01), than the pts from the 2nd group. There is no difference in CVD frequency in these groups (17% vs 8%, p=0,084). Conclusions SLE patients with and without LN had no difference in frequency of clinical manifestations of AS (CVD), but had a greater value of mean IMT, Framingham Risk Score and a higher incidence of both traditional (hypertension, TG concentration) and SLE-related (disease activity, prednisone therapy) risk factors for AS.

Histoplasmosis: diagnostic challenges

Histoplasmosis is an infection usually caused by a fungal pathogen that, in most cases, occurs in the respiratory tract, which explains the high frequency of clinical manifestations in the lungs. (1) This mycosis is endemic in the Americas (Mississippi and Ohio River Valley, USA; Central and South America; and the West Indies), while reports in areas of Asia, Africa, Australia, and Oceania are mainly asso­ciated with the pandemic of acquired immune deficiency syndrome (AIDS). In Europe, cases are on the rise because of the speculation of a global distribution of histoplasmosis, and emphasis has been on improving methods for its diagnosis. (2,3)

Hematological manifestations of systemic lupus erythematosus in the early stage: association with other symptoms of the disease and possible prognostic value

Objective: to assess the relationship between hematological manifestations of systemic lupus erythematosus (SLE) in the early stage of the disease and development of other syndromes and symptoms of the disease, as well as the nature and severity of internal organs damage during the subsequent five-year period.Subjects and methods. The analysis of data of examination of 89 patients with SLE during the five-year period was carried out. The frequency of clinical manifestations of SLE, the level of antinuclear and antiphospholipid antibodies, SLICC/ACR damage index (SDI) depending on the presence of hematological manifestations of SLE in the onset of the disease including leukopenia (LP), thrombocytopenia (TP) and autoimmune hemolytic anemia (AGA) were studied.Results and discussion. In the onset of SLE LP was observed in 21.3%, TP – in 26.9%, AGA – in 8.9% of patients. The presence of LP was associated with an increase of antibodies to SSA frequency, and TP – with more frequent detection of antibodies to Ro-52, cardiolipin and β-2-glycoprotein (p<0.05). Patients with TP in the onset of SLE compared with patients without hematological manifestations, had an increase (p<0.05) of the cumulative incidence of nephritis (83.3 and 42.9%), central nervous system lesions (70.8 and 26.5%), vasculitis (45.8 and 10.2%) and Libman-Sachs endocarditis (20.8 and 6.1%, respectively), which was accompanied by an increase of SDI values (median was 2.09 [2, 1.82; 2.21] and 1.12 [0.81; 1.32], p<0.05). In patients with LP, the cumulative incidence of pneumonitis and Sjogren's syndrome was increased in the onset of SLE compared with patients without hematological manifestations (15.8 vs 6.1% and 15.7 vs 2.0%, respectively, p<0.05).Conclusion. Presence of TP in the onset of SLE is a predictor of kidneys, central nervous system, peripheral vessels and heart valves damage during the next 5 years.

Phenotypes and genotypes of Chinese adult patients with systemic autoinflammatory diseases

ObjectiveWe aimed to characterize the phenotypes and genotypes of Chinese adult patients with systemic autoinflammatory diseases (SAIDs). MethodsWe prospectively evaluated clinical and genetic features of 92 adult patients (≥16 years) suspected of SAIDs in the period from April 2015 to October 2017, at the adult SAIDs center, Peking Union Medical College Hospital. The definite diagnosis of each disease was deemed to be present if both clinical phenotypes and genetic confirmation were met. Clinical manifestations of these patients were compared with those from the pediatric populations and patients from other countries. ResultsA final diagnosis of SAIDs was reached in 50 patients, including 13 familial Mediterranean fever (FMF), 10 NLRP12-associated autoinflammtory disease (NLRP12-AID), 7 NLRP3-associated autoinflammatory disease (NLRP3-AID), 5 tumor necrosis factor receptor-associated periodic fever syndrome (TRAPS), 3 Blau syndrome, 3 Yao syndrome (YAOS) and 9 periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome (PFAPA). First disease onset during adulthood was observed in 30 patients, and the final diagnosis was delayed with a median time of 9 years. Adult monogenic SAIDs patients usually carried low-penetrance mutations and all gene variants were presented as heterozygosis or compound heterozygosis. Frequencies of clinical manifestations in Chinese adult SAIDs patients were similar with adult patients in other countries, but different from pediatric populations. ConclusionsFMF, NLRP3-AID, and NLRP12-AID are relatively common monogenic SAIDs in Chinese adults. Adult-onset SAIDs may be related to the presence of low-penetrance mutations, characterized by nonspecific, incomplete or atypical disease patterns compared with child-onset SAIDs, leading to a delay of diagnosis.

The frequency of clinical manifestations of hypophosphatemic rickets in patients with therapeutic strategies.

The aim of this study was to evaluate the frequency of clinical manifestations of various types of rickets in patients could be effective in therapeutic strategies. A total of eleven child patients (7 females and 4 males) were included in the present study. The patients were admitted to the hospital with hypophosphatemic rickets. In our study, the age at the time of diagnosis ranged from 1 to15 years. Mean age of first presentations at final diagnosis was determined to be 5.5 an 2 years, respectively. Five patients out of 11 patients had showed significant history of vitamin D3 resistance. Family history of similar skeletal problems was reported to be positive in six patients. Furthermore, there were seven relative marriages in parents. Mean value of Gomez index has been revealed as 64%. Mean serum phosphate level was detected as 2.9 mg/dL, that this level in males (2.2 mg/dL) was significantly less than females (3.4 mg/dL) (P=0.5). Mean serum alkaline phosphatase activity was reached 913 IU/L. Alkaline phosphatase activity in women (1075 IU/L) was significantly lower than that of men (750 IU/L), (P=0.5). Definitive treatment with oral phosphate and vitamin D3 can prevent complications of the disease and the side effects of unconventional treatments.

The interaction of morphological changes in the liver with the development of extrahepatic manifestations in patients with chronic hepatitis C

The purpose of the work was to analyze the connections of morphological changes in the liver with the manifestation of clinical signs of extrahepatic manifestations in patients with CHC. Material and methods. The study included 86 patients with CHC. The correlation analysis of expressiveness degree of liver fibrosis and histological activity depending on the presence of clinical signs of extrahepatic manifestations of disease and changes of autoimmune parameters was carried out. Results. It was found that the incidence of mixed cryoglobulins in the blood of patients with CHC had a dependence on the degree of fibrosis of the liver. In the presence of liver fibrosis F 3–4 mixed cryoglobulins were found in 94.2 % versus 64.7 % of patients with stages of liver fibrosis F 12 (P < 0.01). In patients with stages of liver fibrosis F 3–4, the quantitative content of mixed cryoglobulins, RF-IgM and CIC was higher than those of patients with stages of liver fibrosis F 1–2. In patients with fibrosis in the liver F 3–4 cryoglobulinema incidence of vasculitis with formation of Meltzer’s triad was higher than in patients with liver fibrosis F 1–2 (19.2 % versus 2.9 %, P < 0.05). Content of mixed cryoglobulins correlated with the degree of fibrosis of the liver (r= +0.49, P < 0.01). A factor A3 was more often detected in patients with stage F 3–4, compared with patients with stage F 1–2 of fibrosis (81.5 % versus 19,2 %, P < 0.01). Conclusions. CHC patients with liver fibrosis F 3–4 are characterized with more frequent appearance of mixed cryoglobulins, higher content of RF-IgM and CIC in serum than in patients with liver fibrosis F 1–2. This explains the higher frequency of clinical manifestations of extrahepatic manifestations of immunocomplex genesis in patients with F 3–4 fibrosis. Histological activity of A3 in patients with CHC is most often combined with fibrosis of the liver F 3–4, which causes a high frequency of cryoglobulinemic vasculitis development in these patients.

ВПЛИВ ДЕЗІНТОКСИКАЦІЙНОЇ ТЕРАПІЇ НА ПОРУШЕННЯ ВОДНО-ЕЛЕКТРОЛІТНОГО ОБМІНУ ПРИ КЕТОАЦИДОТИЧНИХ СТАНАХ У ПАЦІЄНТІВ ІЗ ЦУКРОВИМ ДІАБЕТОМ 2 ТИПУ

Цукровий діабет (ЦД) належить до найбільш прогресуючих захворювань суспільства, що не обминає стороною жодну країну та жоден прошарок суспільства. Незважаючи на сучасні методи діагностики цукрового діабету та достатній арсенал лікарських засобів, досягти компенсації вдається менше ніж у 30 % пацієнтів. Упродовж життя майже у 87 % хворих на ЦД виникають гострі ускладнення. Саме тому пошук найефективніших та доступних методів лікування, з метою поліпшення електролітного обміну, та пришвидшення виведення пацієнта з стану декомпенсації залишаються досить актуальними.Мета дослідження – вивчити перебіг помірного кетоацидозу та оптимізувати методи його лікування; дослідити вплив препарату “Регідрон Оптім” на електролітний баланс при діабетичному помірному кетоацидозі та порівняти ефективність комплексного використання його у лікуванні порівняно зі стандартною терапією. Матеріали і методи. Обстежено 30 пацієнтів, хворих на ЦД, віком від 18 до 40 років із гострими його ускладненнями у стані декомпенсації.Результати досліджень та їх обговорення. Виявлено дисбаланс електролітів у пацієнтів із кетоацидозом та встановлено пришвидшення компенсації гомеостазу при використанні в комплексному лікуванні препарату “Регідрон Оптім”.Висновки. Призначення препарату “Регідрон Оптім” із дезінтоксикаційною метою вже через 24 год дозволяє достовірно знизити частоту клінічних проявів кетоацидозу, а на 3 день лікування повністю ліквідувати кетоацидоз у більшості пацієнтів. Він добре переноситься, доступний у використанні та має хороший профіль безпеки застосування, сприяє відновленню рівня електролітів у крові порівняно з контрольною групою.

Epidemiological Characteristics of Congenital Rubella Syndrome Cases during Rubella Epidemic in Japan, 2012–2014

BackgroundRubella infection during the first 20 weeks of pregnancy can cause congenital rubella syndrome (CRS). The main defects of CRS are known as classic triads; hearing impairment, congenital heart disease, and cataract. In Japan from 2011 to 2013, rubella outbreak occurred mainly among adults in their 20s to 40s, and consequently notification of CRS cases increased.MethodsWe collected information of epidemiological characteristics regarding all reported CRS cases and their mothers retrospectively by questionnaire to the physicians and interview to the several members of patients’ association of CRS. We conducted descriptive analysis to evaluate public health impact on CRS in Japan.ResultsA total of 45 CRS cases were reported from October 2012 to October 2014. Majority of cases (96%: 43/45) were diagnosed at less than three months old, except for two cases whose diagnoses at 9 months old and 13 months old due to late onset of cataract and hearing impairment. Males accounted for 56% (25/45). The median gestational week at birth was 38 weeks (range: 31 to 41 weeks) and mean birth weight was 2,171 g (standard deviation: ± 626 g). Frequencies of clinical manifestations at the time of diagnosis revealed that 67% (30/45) of cases had hearing impairment, 58% (26/45) had congenital heart disease, and 16% (7/45) had cataract. The most frequent heart diseases was patent ductus arteriosus (77%: 20/26), followed by pulmonary stenosis (15%: 4/26), and atrial septal defect (15%: 4/26). Only 7% (3/45) had classic triads. Thrombocytopenia which accounted for 73% (33/45) was the most frequent manifestation developed other than classic triads. Eleven cases died at the time of investigation, indicating 24% of case fatality proportion of reported CRS cases in this outbreak. Among ten cases died before 6 months old, nine were complicated by congenital heart disease. None of the mothers of reported CRS cases had two doses of Rubella Containing Vaccine (RCV) before pregnancy; meanwhile 24% (11/45) of mothers had one dose of RCV.ConclusionHigh case fatality proportion of CRS pointed out obvious high public health impact in Japan. Vaccination of two doses of RCV before pregnancy is necessary to preventing CRS.Disclosures All authors: No reported disclosures.