Frequent Clinical Manifestations Research Articles

Deciphering seizure semiology in corpus callosum injuries: A comprehensive systematic review with machine learning insights

IntroductionSeizure disorders have often been found to be associated with corpus callosum injuries, but in most cases, they remain undiagnosed. Understanding the clinical, electrographic, and neuroradiological alternations can be crucial in delineating this entity. ObjectiveThis systematic review aims to analyze the effects of corpus callosum injuries on seizure semiology, providing insights into the neuroscientific and clinical implications of such injuries. MethodsAdhering to the PRISMA guidelines, a comprehensive search across multiple databases, including PubMed/Medline, NIH, Embase, Cochrane Library, and Cross-ref, was conducted until September 25, 2023. Studies on seizures associated with corpus callosum injuries, excluding other cortical or sub-cortical involvements, were included. Machine learning (Random Forest) and deep learning (1D-CNN) algorithms were employed for data classification. ResultsInitially, 1250 articles were identified from the mentioned databases, and additional 350 were found through other relevant sources. Out of all these articles, 41 studies met the inclusion criteria, collectively encompassing 56 patients The most frequent clinical manifestations included generalized tonic-clonic seizures, complex partial seizures, and focal seizures. The most common callosal injuries were related to reversible splenial lesion syndrome and cytotoxic lesions. Machine learning and deep learning analyses revealed significant correlations between seizure types, semiological parameters, and callosal injury locations. Complete recovery was reported in the majority of patients post-treatment. ConclusionCorpus callosum injuries have diverse impacts on seizure semiology. This review highlights the importance of understanding the role of the corpus callosum in seizure propagation and manifestation. The findings emphasize the need for targeted diagnostic and therapeutic strategies in managing seizures associated with callosal injuries. Future research should focus on expanding the data pool and exploring the underlying mechanisms in greater detail.

Efficacy and safety of proton pump inhibitors on cardiovascular events and inflammatory factors in patients with upper gastrointestinal bleeding undergoing dual antiplatelet therapy.

This work evaluated the effects of proton pump inhibitors (PPIs) on cardiovascular events (CVEs) and inflammatory factors in patients with upper gastrointestinal bleeding (UGIB) undergoing dual antiplatelet therapy (DAPT) after percutaneous coronary intervention. Clinical data from these patients were analysis, intending to provide relevant theoretical evidence for clinical practice. Data of 166 patients who underwent percutaneous coronary intervention and developed UGIB while on DAPT at The First People' Hospital of Linping District from April 2021 to April 2023 were retrospectively analyzed. The patients were rolled into two groups: those who received PPI treatment and those who did not, namely, PPI and non-PPI group, respectively. Furthermore, occurrence of CVEs and the levels of inflammatory factors of patients in all groups were statistically analyzed. In patients with UGIB, melena is a common presentation. The incidence of CVE in the PPI group showed no statistically significant difference compared to the control group, and there was no significant variance observed in the distribution of CVE incidence among different PPIs. However, levels of C-reactive protein (CRP) and tumor necrosis factor-alpha (TNF-α) were significantly lower in the PPI group compared to the non-PPI group (P < 0.05). Melena was the most frequent clinical manifestation in UGIB patients. The use of PPIs did not increase the risk of CVEs, and different PPI drugs did not affect the occurrence of CVEs. Furthermore, PPIs lowered CRP and TNF-α levels in serum of these patients.

Mucormycosis: A Rare disease to Notifiable Disease.

Mucormycosis is the third most frequent invasive mycosis, following candidiasis and aspergillosis. It is frequently neglected due to its rare occurrence; but recently attend the status of notifiable disease due to its higher incidence in both developed and developing nations. India has received global notice since its estimated instances were greater than the global estimated figures. Mucormycosis has several clinical manifestations, including rhino-orbital-cerebral (ROCM), pulmonary, gastrointestinal, cutaneous, renal, and diffuse Mucormycosis. ROCM is the most frequent clinical manifestation in India, although pulmonary mucormycosis is prevalent worldwide. This review also discusses host defenses, pre disposing risk factors and fungal virulence factors that impair host's ability to prevent fungus invasion and disease establishment. The diagnosis of the disease depends on clinical interventions,histologicalormicrobiologicalprocedures along with molecular methods to obtain timely results. But there are still unmet challenges for rapid diagnosis of the disease. Treatment of the disease is achieved by multimodal approaches such as reversal of underlying predisposing factors, rapid administration of antifungals in optimal doses and surgical procedures to remove infected tissues. Liposomal Amphotericin B, Posaconazole and Isavuconazoles are preferred as the first line of treatment procedures. clinical trials. Different studies have improved the existing drug and under clinical trials while several studies predicted the new potential targets as CotH and Ftr1 as shown in infection and in vitro models. Therefore, current scenario demands a multidisciplinary approach is needed to investigate the prevalence, pathogenesis which is highly important for the advancement of rapid diagnosis and effective treatment.

Enfermedad de Crohn

Crohn's disease (CD) is a type of inflammatory bowel disease of unknown etiology that impacts patients’ quality of life. The inflammation is transmural, asymmetrical, segmental, and can affect any part of the gastrointestinal tract, but most commonly affects the ileum. The pathogenesis involves a complex interaction among genetic, environmental, microbial, epithelial, and immune system factors that trigger an uncontrolled inflammatory response. CD is heterogeneous and is classified into different phenotypes based on age at diagnosis, anatomic location of the inflammation, and disease behavior. The most frequent clinical manifestations are abdominal pain, diarrhea, and weight loss. Other manifestations arise from complications, such as the development of stenosis, fistulas, intra-abdominal abscesses, and malnutrition. In addition, extraintestinal manifestations may appear, mainly in the joints, eyes, and skin. A diagnosis is based on a combination of clinical, biochemical, endoscopic, histological, and radiological criteria. CD is a complex entity that requires multidisciplinary care. Therefore, both primary care physicians and other specialists should be familiar with this disease.

Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia in adults

Diffuse Idiopathic Pulmonary NeuroEndocrine Cell Hyperplasia (DIPNECH) is an understudied rare disease that should be taken into account in the differential diagnosis of therapy-resistant bronchial obstruction combined with focal pulmonary lesions and mosaic attenuation on chest CT. The aim of this article is to discuss the aspects of clinical and morphological diagnosis, therapeutic options, prognosis assessment, and the need for follow-up using a clinical case as an example. The article describes a clinical case of DIPNECH in a 55-year-old woman, and also provides a brief review of the scientific literature on DIPNECH. DIPNECH is a rare disease that most often affects non-smoking women aged around 60 years. The most frequent clinical manifestations are cough, dyspnea, stridor, and broncho-obstructive syndrome. Only histological and immunohistochemical assays can confirm the diagnosis. DIPNECH should be considered as part of the differential diagnosis in patients with prolonged cough, dyspnea of unclear genesis and changes on chest CT in the form of pulmonary focal lesions and mosaic attenuation. Conclusion. The presented clinical case shows the challenges and importance of timely diagnosis.

Challenges in treating children with optic pathway gliomas: an 18-year experience from a middle-income country.

Patients with optic pathway gliomas (OPG) have good survival rates although their long-term quality of life can be affected by the tumor or treatment-related morbidity. This retrospective study sought to describe the clinical presentation and outcomes of children with OPG at a tertiary center in Mexico. Consecutive patients <18 years-of-age with newly diagnosed OPG between January 2002 and December 2020 at the Hospital Civil de Guadalajara Dr. Juan I. Menchaca in Guadalajara, Mexico were included. Thirty patients were identified with a median age of six years. The most frequent clinical manifestations were loss of visual acuity (40%) and headaches (23%). Neurofibromatosis-1 was found in 23.3% of the patients. Surgery, either biopsy or resection, was done in 20 of 30 patients. Two patients died shortly after initial surgery. The 5-year event-free survival (EFS) was 79.3% ± 10.8% and the 5-year overall survival was 89.5% ± 6.9%. Lower EFS was associated with age less than 3 years, intracranial hypertension at presentation, and diencephalic syndrome. Patients who received surgery as first-line treatment had a 3.1 times greater risk of achieving a performance score of less than 90 points at 6 months after diagnosis (p=0.006). Of 10 patients with vision testing, 5 had improvement in visual acuity, 4 had no changes, and one patient showed worsening. Our data suggests that favorable outcomes can be achieved with OPG in low- and middle-income countries, although a high rate of surgical complications was described leading to a lower overall survival. These data can be used prospectively to optimize treatment at this institute and other middle-income countries through a comprehensive, multidisciplinary approach.

Entamoeba histolytica Infection in the Philippines: A Review

Entamoeba histolytica, an intestinal protozoan parasite, is the primary causative agent of both intestinal and extraintestinal amoebiasis. While six species of Entamoeba have been identified in the human gut, only E. histolytica is well recognized as a pathogenic amoeba associated with intestinal and extraintestinal infections. In many cases of E. histolytica infection, symptoms are either absent or mild, whereas the most frequent clinical manifestations are colitis and liver abscess due to amoebic infection. Diagnosis typically relies on microscopic and serological methods. Metronidazole is the standard therapy for treating children and adults with invasive amoebiasis. However, the absence of an effective vaccine poses a significant challenge to controlling the transmission and progression of the parasite into an active, invasive disease. Notably, in developing tropical countries like the Philippines, significant cases of E. histolytica infections have been documented in communities with inadequate sanitation and hygiene practices. The development of pragmatic and cost-effective diagnostic methods is therefore crucial for the clinical care of amoebiasis patients. Drawing from a limited pool of published articles (2010 to date) on cases of E. histolytica infections and parasitological surveys in the Philippines, the current review underscores the critical knowledge gap on the prevalence of amoebiasis as well as the disease pathology and treatment of this zoonotic parasitic disease.

Severe Hepatotoxicity in Mushroom Poisoning by Lepiota brunneoincarnata from Complete Recovery to Liver Transplantation: A Case Series with Review on Liver Function Tests and Liver Histopathology.

In spite of the scientific evidence supporting health advantages of mushrooms, some of them are seriously poisonous. The clinical picture of mushroom intoxication ranges from minor gastrointestinal symptoms to organ failure, such as liver failure and death. We provided demographics, clinicopathological characteristics, applied treatments, and outcomes of mushroom poisoning by Lepiota species in a series of 18 cases that were referred from Kermanshah and Lorestan provinces to Abu-Ali-Sina Hospital, Shiraz, Iran. Clinical and paraclinical data were collected by taking history and reviewing of medical documents. Pathologic findings were extracted through a review of hematoxylin and eosin pathologic slides. The patients were between the ages of 18 and 67 years, composed of ten females and eight males. The most frequent clinical manifestations were nausea and vomiting followed by abdominal pain. Four cases presented decreased consciousness on admission. One of them passed away. Three other cases underwent liver transplantation, two of them died after transplantation, and one fully recovered without any major issues. All instances had elevated ALT levels, which ranged from 44 to 9,140 IU/L (mean: 3259 ± 2476), with most of them also having concurrent AST elevations (mean: 1,361 ± 1,532). Only few patients had modest elevations in alkaline phosphatase. Total and direct bilirubin elevations up to 47.6 and 24 mg/dL, respectively, were found in most cases. Decreased total protein and albumin concentrations and increased BUN and creatinine levels were observed in some patients. In addition, some instances revealed increased LDH, increased WBC, decreased hemoglobin, and decreased platelet count. Most patients had increased prothrombin time; hematuria and positive stool occult blood were observed in few patients. Histopathologic examination of three explanted livers revealed massive necrosis with moderate to severe macrovesicular steatosis, significant ductular reaction, and parenchymal inflammation. Other patients followed a recovery process with a considerable drop in liver enzymes, especially ALT, during hospitalization utilizing conservative treatment. They had no liver problems or relevant issues after a two-year follow-up. In our study, highly elevated liver enzymes with a significantly high ALT/AST ratio were observed in cases of mushroom poisoning by Lepiota species, leading to fulminant liver failure and death in some cases. These laboratory findings were correlated with liver necrosis and macrovesicular steatosis in explanted livers.

Molecular Genetic Basis of Cervical Cancer

Background: Cervical cancer is a cancer that occurs in the cells of the cervix–the lower part of the uterus that connects it to the vagina and represents a global public health problem. In 2008, 530,000 new cases and 275,000 deaths from cervical cancer were recorded worldwide, and in 2018, an increase to 570,000 new cases and 311,000 deaths was recorded. For many years, it has been known that the main cause of preinvasive lesions and cervical cancer is the human papillomavirus–HPV. The total prevalence of HPV in the cervix in the general population of women is 10%. In developing countries, this prevalence is higher and describe most frequent clinical manifestations in the praxis. Objective: The aim of this study was to analyze and describe molecular genetic basis of cervical cancer and the most frequent clinical manifestations in the praxis. Methods: This is cross-sectional study based on meta-analysis of the facts published in scientific literature stored in indexed databases Medline, PubMed Central, Scopus, Hinari, etc., about molecular genetic basis of the cervical cancer with description of clinical manifestations and its consequences describing morbidity and mortality rate in the population worldwide. Results and Discussion: In 2008, 530,000 new cases and 275,000 deaths from cervical cancer were recorded worldwide, and in 2018, an increase to 570,000 new cases and 311,000 deaths was recorded. The main cause of preinvasive lesions and cervical cancer is the human papillomavirus–HPV. HPV infection is most common in young, sexually active women under the age of 25, but cervical cancer is more common in older women. Oncogenic types of human papillomavirus 16 and 18 together with HPV 45 and 31 are the causative agents of 80% of cervical cancer cases. HPV 16 has the highest oncogenic potential. Epigenetic changes include DNA methylation and post-translational modifications of histones, such as: methylation, acetylation, phosphorylation, ubiquitination and sumoylation. Cervical intraepithelial (CIN / SIL) lesion is a premalignant change of the cervix that occurs due to chronic infection with high-risk types of HPV. Persistent infection with oncogenic types of HPV causes almost all cases of cancer. HPV DNA was detected in 99.7% of cancer samples. Conclusion: There are four main steps in the development of cervical cancer: infection of the metaplastic epithelium of the transformation zone, viral persistence, progression towards precancerous lesions and invasion of the basement membrane. Histologically, in about 80% of cases, squamous cell carcinomas arise from preexisting dysplasias. Adenocarcinoma accounts for about 15-20% of cancer cases. HPV 16 is the main cause of squamous cell carcinoma, unlike HPV 18 which is typically associated with adenocarcinoma.

Protocolo diagnóstico y tratamiento de la candidiasis esofágica

Esophageal candidiasis is the most common cause of infectious esophagitis. It mainly affects immunosuppressed patients, especially those with HIV infection with CD4 levels less than 200 cells/mm3. Nowadays, given the efficacy of antiretroviral therapy for HIV, the prevalence of esophageal candidiasis in immunocompetent patients is increasing. The most frequent clinical manifestations are dysphagia, odynophagia, and chest pain. Gastroscopy with biopsy collection are the diagnostic tools of choice. Treatment is indicated in all cases of immunosuppressed patients and in symptomatic immunocompetent patients; treatment is controversial in asymptomatic immunocompetent patients. The treatment of choice is oral fluconazole for 14 to 21 days. In immunosuppressed patients with dysphagia, the strategy of empirical therapy with fluconazole is a cost-effective alternative to performing a gastroscopy.

Caracterización clínica y de laboratorio de 131 casos (2016 – 2022) de hipercortisolismo ACTH-dependiente canino

The objective of this study was to evaluate the clinical and laboratorial aspects of dogs with adrenocorticotropic hormone- (ACTH) dependent hypercortisolism in a series of cases (131). Females predominate (63%); the mean age was 10 years; the most frequent breeds were Shih-tzu (15.27%), Poodle (14.50%) and Yorkshire (14.50%); the most common laboratorial findings were elevation in alanine aminotransferase (ALT) (49.56%) and alkaline phosphatase (ALP) (75.65%) activity, hypercholesterolemia (51.72%) and hypertriglyceridemia (74.34%); the most frequent clinical manifestations were polyuria (47.86%), polydipsia (54.70%) and polyphagia (47.00%), and the most frequent comorbidities were hepatopathies (70.16%), gallbladder diseases (66.13%) and dermatopathies (11.29%). It was concluded that the patients characterization was similar to previous studies, but with a lower frequency of clinical manifestations, suggesting diagnosis was made in the earlier stages.

Clinical Manifestations Laboratory Tests Abdominal Ultrasonic Findings and In-hospital Prognosis of COVID-19 in 185 Pediatric Cases in a Tertiary Center.

Despite the COVID-19 pandemic, there is little information about the different clinical aspects of COVID-19 in children. In this study, we assessed the clinical manifestations, outcome, ultrasound, and laboratory findings of pediatric COVID-19. This retrospective study was conducted on 185 children with definitive diagnosis of COVID-19 between 2021 and 2022. The patients' information was retrieved from hospital records. The average age of the patients was 5.18 ± 4.55 years, and 61.1% were male. The most frequent clinical manifestation was fever (81.1%) followed by cough (31.9%), vomiting (20.0%), and diarrhea (20.0%). Mesenteric lymphadenitis was common on ultrasound and found in 60% of cases. In-hospital death was identified in 3.8% of cases. The mean length of hospital stay was 8.5 days. Mandating intensive care unit (ICU) stay was found in 19.5% and 5.9% of cases were intubated. Acute respiratory distress syndrome (ARDS), lower arterial oxygen saturation, higher white blood cell (WBC) count, and higher C-reactive protein (CRP) were the main determinants of death. Lower age, respiratory distress, early onset of clinical manifestations, lower arterial oxygen saturation, lower serum hemoglobin (Hb) level, and higher CRP level could predict requiring ICU admission. We recommend close monitoring on CRP, serum Hb level, WBC count, and arterial level of oxygenation as clinical indicators for potential progression to critical illness and severe disease. Mesenteric lymphadenitis is a common sonographic finding in pediatric COVID-19 which can cause abdominal pain. Ultrasound is helpful to avoid unnecessary surgical interventions in COVID-19.

Hematologic Response to Steroid Use in Patients with Primary Immune Thrombocytopenia: A Research Study in a Salvadoran Population

Introduction. Thrombocytopenia Immune (ITP) is an acquired thrombocytopenia caused by autoantibodies against platelet antigens. It is one of the more common causes of thrombocytopenia in otherwise asymptomatic adults. The use of high-doses dexamethasone has proven efficacy and safety in previously untreated patients with immune thrombocytopenia even though these findings are not entirely clear yet. AIM. The primary goal to assess the global response (platelets &amp;gt;30 x 109/L) and complete response (platelets &amp;gt;100 x 109/L) within the different implemented regimes in previously untreated adult with primary immune thrombocytopenia. Further goals aimed to describe the clinical characteristic of patients with primary immune thrombocytopenia and the most frequent adverse events in the use of steroids. Results. A total of 44 patients were treated with steroids, 16 patients in the high-dose dexamethasone (HD-DXM) group, 23 patients received methylprednisolone (MTP) and 5 patients with prednisone (PDN). The female gender was the most affected in all the groups with 61.3% (n=27) presenting more cases than the female sex in the methylprednisolone group 65.2% (n=15), although without significant statistical difference (P = 0.384). The mean age of onset was 38, 44, and 40 years, respectively (P = 0.352). The most frequent clinical manifestations were purpura sicca (petechiae and bruising) with 75%, 91.3% and 60.0%, for the dexamethasone, methylprednisolone and prednisone groups, respectively. The mean platelet count in the groups was around the mean of 26 x 109/L, with the methylprednisolone group presenting the lowest values (3 x 109/L). The overall response was different for the three groups (87.5% vs 95.6% vs 100%, P = 0.43) with a complete response of 56.2% vs 60.8% vs 80.0% (P = 0.85). Early response was achieved in the methylprednisolone group with 3.5 days, versus dexamethasone with 4.0 days and prednisone with 7 days. The sustained response at 6 months was lower in the prednisone group 80.0%. The most frequent adverse events occurred in the HD-DXM group with fatigue in 31.2% (n = 5) followed by edema, hyperglycemia and insomnia with 18.7% (n = 3). Conclusions. Our study demonstrated that PDN provides greater overall responses as initial treatment in ITP. MTP provides the fastest responses followed by HD-DXM. The sustained response was maintained in the HD-DXM Group. The HD-DXM group presented 68.7% cases with at least one adverse event associated with the use of the steroid. The findings suggest continuing to perform more studies in our population.

Increased Circulating Levels of YKL-40 Protein in Children and Adolescents with Hemophilia: Correlation with the Degree of Hemophilic Arthropathy

Introduction: Hemophilia A and B are rare X-linked inherited bleeding disorders caused by complete or partial deficiency of coagulation factors VIII and IX, respectively. Recurrent joint bleeding (hemarthrosis) is the most frequent clinical manifestation of severe hemophilia. Unless appropriately managed, even subclinical hemarthrosis can lead to hemophilic arthropathy, that severely affects the quality of life of patients. Chitinase-3-like protein 1 (CHI3L1), also known as YKL-40, is a 40-kDa heparin-human cartilage glycoprotein without enzymatic activity, that is encoded by the CHI3L1 gene in humans and its name derives from the one letter code for the three terminal amino acids - tyrosine (Y), lysine (K) and leucine (L). YKL-40 is secreted in vitro and in vivo in the arthritic joint by various cell types, such as activated macrophages, chondrocytes, synoviocytes and neutrophils. Actually, it is a major protein that has been identified in the chondrocytes from arthritic knee joints.In fact, synovial as well as serum YKL-40 levels are found increased in joint diseases like rheumatoid arthritis and osteoarthritis, indicating its potential role as a biomarker of inflammation and tissue remodeling or degradation, whereas it is absent in normal joints. In our knowledge, there are not any reports linking YKL-40 expression with hemophilic arthropathy, thus we aimed to investigate if this protein could be implicated in hemophilic arthropathy severity, by measuring its circulating levels and correlate them with hemophilic arthropathy features and laboratory parameters in children and adolescents with hemophilia A and B. Patients and Methods: Eighty children and adolescents (median age:14 years, range 10-18 years) with severe (n= 60), moderate (n= 8) and mild (n= 12) hemophilia A or B (n= 7), on prophylaxis or on demand treatment (n= 12) were included in the study, while 35 apparently healthy male individuals matched for age served as controls. No signs of hemophilic arthropathy (NHAP), i.e. Hemophilia Joint Health Score 2.1 ≤ 2 and Hemophilia Early Detection Arthropathy with Ultrasound Score ≤ 1, were detected in 34/80 patients with median age of 13.5 years. In 37/80 patients with median age of 14.25 years arthropathy (HAP) was confirmed, while 18/80 patients with median age of 15.75 years presented with acute bleeding (AB)-hemarthrosis or muscle bleed- at the time of the laboratory evaluation. In patients and controls YKL-40 concentrations were determined by means of an immunoenzymatic technique. Results: We found that: a) Circulating YKL-40 levels in patients with hemophilia were significantly higher compared to controls, 21.9±2.3 ng/mL (95% Confidence Intervals of the mean (CI): 19.6;24.2 ng/mL) vs 17.0±2.5 ng/mL (CI: 14.5;19.4 ng/mL), respectively, p=0.003. b) Patients with arthropathy (HAP) tend to express higher circulating YKL-40 levels (25.5±2.0 ng/mL) than patients without arthropathy (NHAP)(20.1±1.8 ng/mL) and patients with acute bleeding (AB) (19.7±2.4 ng/mL), respectively, p-trend=0.06. Conclusions: To the best of our knowledge, this is the first study to evaluate the potential clinical significance of circulating YKL-40 levels in patients with hemophilia and demonstrated that it could reflect hemophilic arthropathy activity in clinical or even in subclinical level. As YKL-40 in synovial fluid is derived from cells in the inflamed/damaged synovium, such as chondrocytes, we postulate that it may be involved in the pathophysiology of the hemophilic arthropathy processes and reflect local disease activity. Further studies are essential on the role of YKL-40 in the evolution of hemophilic arthropathy, in order to fully elucidate its clinical significance and prognostic utility.

HTLV-1-associated myelopathy in Spain

BackgroundHTLV-1 infection is a neglected disease. Over 10 million people are infected worldwide, with hot spots of high endemicity across all continents. Roughly 5% of HTLV-1 carriers develop HTLV-1-associated myelopathy (HAM), a progressive subacute neurological disabling disease. MethodsWe report the main features of patients diagnosed with HAM up to date in Spain, a non-endemic country with a relatively high migrant flow from Latin America and Equatorial Africa, where HTLV-1 is endemic. ResultsA total of 451 cases of HTLV-1 had been recorded in Spain until the end of year 2022. HAM had been diagnosed in 58 (12.9%). The current incidence is of 2-3 new cases per year. Women represent 76%. Mean age at diagnosis is 49 years-old. Nearly 60% are Latin Americans. Although sexual transmission is the most likely route of HTLV-1 acquisition, up to 6 individuals had been infected following solid organ transplantation. Rapid onset myelopathy developed in all but one of these transplant recipients from three HTLV-1-positive donors. HTLV-1 subtype 1a transcontinental was the only variant recognized in HAM patients. HTLV-1 proviral load was significantly greater in HAM patients than in asymptomatic HTLV-1 carriers (677 vs 104 HTLV-1 DNA copies/104 PBMC; p=0.012). Symptom relief medications and physiotherapy have been the only treatment providing some benefit to HAM patients. Neither significant clinical nor virological efficacy was noticed using antiretrovirals in at least 9 HAM patients. Two thirds of HAM patients ended up in a wheelchair and with urinary/fecal sphincter incontinence. ConclusionHAM is the most frequent clinical manifestation of HTLV-1 infection in Spain, a non-endemic country. Middle aged women migrants from Latin America are the most frequently affected. Two thirds end up in a wheelchair despite using antiretroviral therapy.

Global tests in patients with Ph-negative myeloproliferative neoplasms

Introduction: A frequent clinical manifestation of Ph-negative myeloproliferative neoplasms (MPN) is the development of thrombosis. To identify the state of hypercoagulation it is relevant and promising to introduce global tests for evaluating the hemostasis — the thrombin generation test (TGT) and thromboelastography (TEG). Aim: to evaluate the parameters of thrombin generation and thromboelastography in patients with Ph-negative MPN. Material and methods. In total, 62 patients with MNP were included in the study: 27 with polycythemia vera (PV), 14 with essential thrombocythemia (ET) and 21 with primary myelofibrosis (PMF). The control group included 55 practically healthy individuals, comparable in gender and age (19 people in the study of TEG, 36 people in the study of TGT). The TEG was performed using a “TEG 5000” thromboelastograph. TGT was measured with Calibrated Automated Thrombinography. Results: Ly30 and Ly60 in TEG in patients were significantly lower (0.35 (0.20–0.48), 0.00 (0.00–0.40) and 0.00 (0.00 — 0.43) and 3.15 (2.45–3.60), 1.25 (0.10–3.58) and 0.60 (0.00–3.05) respectively), than in the control (1.60 (1.05–2.75) and 6.20 (4.15–8.30), respectively), which indicates the ineffectiveness of fibrinolysis. The values of MA and G in patients with ET and PV significantly exceeded the control (69.15 (67.98–70.78) mm and 65.20 (59.65–63.83) mm versus 62.00 (57.75–6.75) mm and 11.20 (10.60–12.15) din/cm2 and 9.40 (7.40–11.60) din/cm2 versus 8.20 (6.85–8.75) din/cm2, respectively. The most pronounced change in sensitivity to TM was observed in patients with ET (27.94 (17.35–43.58) % and 13.29 (-3.48–23.60) %, respectively; p &lt; 0.05). A significant decrease in ETP was observed in patients with PV and PMF. Conclusion. The study of hemostasis in patients with MPN using TEG and TGT revealed the presence of multidirectional changes associated with the disease. The TEG showed that an increase in the time required for the onset of fibrin formation is combined with increased clot strength and inhibited fibrinolysis, which are risk factors for the development of thromboembolic complications. The study of TGT determined a decrease in the quantitative characteristics of thrombin generation and at the same time the failure of the anticoagulant system of protein C, leading to the development of hypercoagulation.

THU394 Disease Burden Of X-Linked Hypophosphatemia Focused On The United States And Canada: A Targeted Literature Review

Abstract Disclosure: Z. Li: Employee; Self; Employee of Kyowa Kirin, Inc., Princeton, NJ, USA. O. Zaidi: Other; Self; Employee of OPEN Health and received funding to complete this research. C. Chukwu: Other; Self; Employee of OPEN Health and received funding to complete this research. H. Heerssen: Other; Self; Employee of Kyowa Kirin, Inc., Princeton, NJ, USA. Y. Zhao: Other; Self; Employee of Kyowa Kirin, Inc., Princeton, NJ, USA. A. Dale: Other; Self; Employee of Kyowa Kirin, Inc., Princeton, NJ, USA. M. Bernauer: Other; Self; Employee of OPEN Health and received funding to complete this research. Introduction: X-linked hypophosphatemia (XLH) is a rare genetic musculoskeletal disease and the most common form of heritable hypophosphatemic rickets. The objective of this review was to summarize the disease burden and treatment patterns of XLH in the United States (US) and Canada. Methods: Publications from January 1, 2015, to June 3, 2022, were searched using the Medline, Embase, and EconLit databases. Observational studies reporting epidemiology, humanistic burden, economic burden, and treatment patterns in the US and Canada were included. Evidence on epidemiology, humanistic burden, and treatment patterns was expanded to other countries as limited US and Canada studies were identified. Results: A total of 1,218 publications were screened; 42 publications were included (6 from US or Canada; 36 did not report location or were from other countries). Epidemiology data (i.e., incidence, prevalence, mortality) were limited for patients with XLH in the US and Canada. The estimated number of people in the US with XLH was &amp;lt;50,000 in 2021. Globally, the incidence of XLH was estimated at 3.9 per 100,000 live births, and the prevalence ranged from 1.4 per 100,000 to 4.8 per 100,000. One United Kingdom-based study estimated an XLH mortality rate of 12.1 per 1,000 person-years. Sixteen publications reported clinical manifestations of XLH, which showed a high level of heterogeneity. Among children with XLH, frequent clinical manifestations (&amp;gt;80% in 1 or more publications) included active rickets, diminished height, gait disturbance, bone or joint pain, and leg bowing. Among adults with XLH, frequent clinical manifestations (&amp;gt;80% in 1 or more publications) included short stature, leg deformity, musculoskeletal pain, fatigue, osteoarthritis, enthesophytes, gait disturbance, dental abscesses, and joint stiffness or restricted range of motion. Humanistic burden data from the US was limited to 2 non-trial publications, which used, respectively, the 36-Item Short Form Survey (SF-36) and the Knee Injury and Osteoarthritis Outcome Score-Physical Function Shortform (KOOS-PS) instruments. These 2 publications reported lower health-related quality of life for patients with XLH compared with the general population. No publication was identified on economic burden, treatment patterns, or XLH guidelines in the US or Canada. A consensus statement from a US panel of experts recommends individualization of monitoring and disease management due to clinical heterogeneity. Conclusions: There are limited published data on disease burden or treatment patterns for XLH in the US or Canada. Further research should consider the epidemiological, humanistic, and economic burden of XLH among pediatric and adult populations in these countries. Presentation: Thursday, June 15, 2023

Glucose level in amniotic fluid as a preclinical marker of chorioamnionitis

The article presents the results of a study amniotic glucose concentration as a potential early indicator of the inflammatory process in the fetal membranes. The main focus was on the analysis of the features of pregnancy and labor in women with premature rupture of membranes (PROM) during full-term and preterm labor according to amniotic fluid glucose levels. Currently, the expectant approach in cases of PROM is widely practiced throughout the world. The objective: to estimate the glucose level in the amniotic fluid as a preclinical marker of chorioamnionitis. Materials and methods. Depending on the glucose concentration in the amniotic fluid at the time of rupture of membranes and the term of rupture of membranes, 97 pregnant women were divided into 4 groups. I and II groups consisted of women with PROM between 24 and 36 weeks and 6 days. In the I group there were 34 pregnant women with a glucose concentration in the amniotic fluid of more than 0.5 mmol/l, and in the II group – 15 pregnant women with the indicator of less than 0.5 mmol/l. III and IV groups included pregnant women with PROM at full-term pregnancy (after 37 weeks). In the III group there were 34 patients with an amniotic glucose concentration of more than 0.5 mmol/l, and in the IV – 14 pregnant women with the indicator of less than 0.5 mmol/l. In all groups, the further course of pregnancy, the time period from the rupture of membranes to the beginning of labor, the need for induction of labor, hyperthermia before the beginning of labor, deviations from the normal course of labor were analyzed (hyperthermia, fetal distress in labor, uterine weakness) and the frequency of operative delivery. Results. The study determined that women with an amniotic glucose concentration below 0.5 mmol/l at the time of hospitalization were more likely to have hyperthermia before and during childbirth. Hyperthermia was most often observed during the first 12 hours after membrane rupture. In addition, these women were more prone to serious birth complications, such as fetal distress, weak labor, and a greater likelihood of needing an operative delivery. Conclusions. 1. A decreased amniotic glucose level less than 0.5 mmol/l is associated with more frequent clinical manifestations of amniotic infection (20% in preterm pregnancies and 14.8% – in full-term pregnancies) than in groups with a glucose content of more than 0.5 mmol/l (8.8% in preterm pregnancies and 5.9% – in full-term pregnancies, p≤0.05). 2. Among patients with a glucose content in amniotic fluid less than 0.5 mmol/l, laboratory manifestations of intra-amniotic infection were detected more often (40% in preterm pregnancies and 42.5% in full-term pregnancies) than among pregnant women with a glucose content of more than 0.5 mmol/l (20% in both full-term and preterm pregnancies, p≤0.05). 3. Determination of the glucose level in amniotic fluid can be considered as an available method of preclinical diagnosis of chorioamnionitis for the individual choice of management tactics in case of premature rupture of the amniotic membranes, which is especially important in premature pregnancy.

An Ecchordosis Physaliphora, a Rare Entity, Involving the Central Nervous System: A Systematic Review of the Literature.

Ecchordosis physaliphora (EP) is a benign notochordal remnant, which is often an incidental finding; however, it can rarely present with neurological symptoms. We performed a systematic review of the literature for cases of symptomatic EP published in PubMed, Web of Science and Embase from January 1982 to May 2023. This is the largest review to date and revealed 60 cases including ours. Headache (55%) and CSF rhinorrhea (32%) were the most frequent clinical manifestations. The majority of symptomatic EP lesions were located in the prepontine region (77%) and required surgical resection (75%). EP should be considered in patients with neurologic symptoms in the setting of prepontine or posterior sphenoid sinus lesions. While symptomatic patients often require surgical intervention, rare cases may respond to oral corticosteroids.

An Overview of Trichobacteriosis (Trichomycosis): An Underdiagnosed Disease.

Trichobacteriosis (trichomycosis) is an asymptomatic infection at the axillary hair level caused by a bacterium of Corynebacterium spp. The aim of this study is to identify the clinical, epidemiological, and microbiological characteristics of previously reported cases. A review was conducted including the cases of trichomycosis (trichobacteriosis) reported in the PubMed database up to June 2023. Twenty-nine articles were included, involving 365 patients in total. A higher incidence was observed in men, representing 94% of the cases, most of which were in the age range of 20-50 years. The most frequently affected clinical topography was the axillar (90% of the cases). Most of the patients presented change in hair texture and bromhidrosis, some other frequent clinical manifestations were hyperhidrosis, hair color change, and cromhidrosis; 6% of the patients were asymptomatic. The etiological agent most frequently identified was Corynebacterium spp., the flavescens variety being the most prevalent. The most common form of treatment was shaving and topical clindamycin. In conclusion, trichobacteriosis is an infection that most frequently affects men at the axillary level; it manifests clinically with few symptoms and usually has a good response to treatment.