diagnosis

Objective: To explore the pathologic response rate to primary progesterone treatment in patients with Endometrial Intraepithelial Neoplasia (EIN) and early-stage endometrioid-type Endometrial Adenocarcinoma (EAC).Methods: Retrospective chart data were collected for patients with either EIN or EAC receiving primary progesterone treatment between 2015 and 2022. The presence of complete or partial response, time to response, and other demographic and treatment factors were recorded to determine independent predictors of response to progestin treatment.Results: In total, 112 women who were diagnosed with EIN or EAC were treated with upfront progestin therapy, of whom 79 had sufficient follow-up to assess response. Fifty patients (63%) responded, of whom 10 (20%) ultimately relapsed. Response was more robust among patients with EIN (79%, n = 33) compared with patients who had cancer (46%, n = 17). The median time to respond was 5.8 months overall. Diagnosis of EIN, younger age at diagnosis, and any pathologic evidence of progesterone effect were all predictors of treatment response. Younger patients had a significantly shorter time to partial or complete response with a median time to response of 5.9 months in patients ≤ 45 and 13.8 months in patients > 45. Conclusion: Our study demonstrated a lower overall response rate (63%) than reported in previous studies, especially for patients with cancer (46%). Younger patients had a significantly shorter time to respond than older patients. Pathologic progesterone effect observed at any time during treatment was a significant predictor of treatment response regardless of diagnosis and could serve as an early predictor of response to therapy.

Hypertrophy of the adenoid is a rare condition in adults, often suspicious of malignancy. We present a case of a 31-year-old female with a clinical presentation of a giant nasopharyngeal mass, clinically suspicious for malignancy, given the size and greyish discoloration. She presented with left-side otalgia, hearing loss, and nasal obstruction. After broad investigations on adenoid tissue following adenectomy, a reassuring diagnosis of adenovirus-related adenoiditis could be made. This case demonstrates the importance of broad microbiological testing in ruling out malignancies. The patient recovered completely. 

The prevalence of intra-uterine dysfunction of ductus arteriosus is unknown and the clinical consequences are poorly understood. We report a case of prenatal diagnosis of premature closure of the ductus arteriosus due to maternal intake of metamizole during pregnancy. Fetal echocardiography at 37 weeks of gestation revealed a right ventricular hypertrophy and suspected stenosis of the tricuspid valve. A cesarean section led to an excellent neonatal outcome. The aim of this report is to show echocardiographic abnormalities and outcomes of this rare phenomenom.

The purpose of this work is to implement methods and develop tools for nonlinear dynamic identification of the Oculomotor System (OMS) “input-output” in the form of Multidimensional Transient Functions (MTF) based on eye tracking data and their use in an information system for diagnosing the psychophysiological state of a person. The object of the study is the process of diagnosing the psychophysiological state of an individual based on innovative eye-tracking technology. The subject of the research is computational algorithms and software for determining diagnostic features based on identification data of compulsory medical insurance in the form of MTF, constructing a Bayesian classifier using machine learning in the established space of the most informative features. A methodology has been developed and implemented for the experimental study of human compulsory mental health using innovative eye-tracking technology to record compulsory mental health responses to test visual stimuli. The obtained empirical data from input-output studies are used for the identification of OMS based on Volterra polynomials. Experimental studies of compulsory medical insurance of respondents were carried out before and after the working day. Based on the data obtained using the Tobii Pro TX300 eye tracker, the transient functions of the first, second, and third orders of the OMS were determined. Variability of second and third order transient functions was revealed for different psychophysiological states of the respondent (normal or fatigue). Thus, it seems appropriate to use MTF in diagnostic studies in the fields of neuroscience and psychology. Information technology for diagnosing human psychophysiological conditions has been further developed through the use of compulsory health insurance information models based on Volterra polynomials as a source of primary data. This allows for an increase in the accuracy of OMS modeling and, consequently, enhances the reliability of diagnosis within the framework of the proposed heuristic features. A set of heuristic features is proposed, which are determined using integral and differential transformations of the MTF OMS. The information content of individual features and all possible combinations of them in pairs was studied using the Probability of Correct Recognition (PCR) indicator. Two-dimensional feature spaces with the maximum PCR value (0.938) were identified during the diagnosis of a person’s psychophysiological state.

A fever of unknown origin (FUO) in children is usually described as a fever of at least 8 days duration with no apparent diagnosis after initial investigations, including taking medical history and preliminary laboratory assessment. Infectious diseases are the most common cause of FUO, followed by rheumatologic and neoplastic conditions. In this report, we present a case of a 15-year-old Caucasian boy with a silent past medical history, who presented at our Pediatric ER department with a three-day history of fever, fatigue, and abdominal pain with diarrhoea. Initial laboratory testing and microbiological work-up were non-significant. At hospital admission, a broad infectious diagnostic work-up was pursued, including serologies and polymerase-chain-reaction (PCR) for CMV, EBV, HAV, Parvovirus, Toxoplasma gondii and Adenovirus, all negative. Given mild splenomegaly and linfadenopathy, systemic Juvenile Idiopathic Arthritis (s-JIA) was suspected, as well as Multi-inflammatory Syndrome in Children (MIS-C), but the patient did not meet their main diagnostic criteria. Malignancy was ruled out by a negative bone marrow fine-needle aspiration cytology and whole-body PET-CT scan. On hospital day 8, Brucella was identified on a new set of blood cultures and a combined antibiotic therapy was started with IV Gentamicin plus per os Doxycycline. The patient’s general conditions rapidly improved, and both fever and diarrhoea resolved. A reassessment of the patient’s medical history before discharge revealed exposure to unpasteurized soft cheese in the weeks prior to the onset of symptoms. This case underlines the importance of taking a complete medical history, as well as a full diagnostic work-up to unveil unusual infectious etiologies behind FUO. After the preliminary negative microbiological tests, a connective tissue disease was ruled out (i.e. lack of cutaneous or articular involvement), as well as malignancy, which led to a closer evaluation for infection and the diagnosis of Brucellosis.

Aim: Kidney stone disease, which can affect people of all ages and whose incidence increases day by day, is becoming a public health problem due to treatment costs. This study aims to determine how factors related to kidney stones affect the diagnosis of the disease when taken together, rather than determining their relationship with the disease one by one.Materials and methods: An open-access dataset containing kidney stone status and associated factors was used in the study. Mann Whitney U test and independent sample t-test were used in data analysis. Logistic regression was performed with the backward variable selection method to determine the factors associated with kidney stones. ROC analysis was used to determine the power of the variables that were significant as a result of logistic regression analysis, individually and together, in discriminating kidney stones.Results: According to the results of logistic regression analysis, gravity, cond, and urea calc variables were found to be associated with kidney stones. With ROC analysis, it can be said that urea, calc, and gravity variables with AUC values above 0.60 can distinguish kidney stones. When the combinations of these variables are examined, the AUC values of the binary combinations are between 0.734 and 0.759, while the AUC value obtained for the triple combination is 0.831.Conclusion: According to the results obtained from the article, it can be said that while the factors associated with the disease and used in the diagnosis have little effect on the diagnosis of the disease alone based on the AUC values obtained from the ROC analysis, it can be said that considering them together increases the accuracy in diagnosis. Therefore, considering the factors thought to be associated with the disease together may be more appropriate in diagnosis and may give more accurate results.

Background: Tuberculosis (TB) is a significant global health problem, and extrapulmonary TB can present with no specific clinical or radiographic findings. Genito-urinary TB is often associated with elevated tumor markers and can be misdiagnosed as ovarian/fallopian tube carcinomas, especially in elderly female patients, as genitourinary TB commonly affects women of reproductive age.Objective: We present a rare case of genito-urinary TB in an elderly female patient who was initially misdiagnosed with ovarian cancer with metastasis.Case presentation: An 83-year-old woman with a medical history of diabetes and hypertension presented with complaints of abdominal distension. Diagnostic imaging revealed lesions in the ovaries and omentum and tumor markers were elevated, leading to a suspicion of ovarian cancer with metastases to the omentum. The patient underwent a diagnostic laparotomy and surgical removal of ovaries, fallopian tubes, and the lesion of the greater omentum. However, no malignancy was found during the morphological evaluation. Further histopathological examination confirmed the final diagnosis of genito-urinary tuberculosis, and the patient received anti-TB drugs. The postoperative period was uneventful, and tumor marker levels decreased.Conclusion: As the clinical presentation of genito-urinary TB can mimic ovarian cancer, a histopathological examination should be performed for differential diagnosis, thereby reducing the possibility of inaccurate treatment. This case report highlights the importance of considering genito-urinary TB as a differential diagnosis in elderly female patients presenting with elevated tumor markers, abdominal distension, and suspected genital malignancy. It is crucial to carefully evaluate these cases and explore the possibility of genital TB as an alternative diagnosis, given the overlapping clinical presentation. This highlights the importance of a comprehensive diagnostic approach that includes considering TB in addition to malignancy, even in the context of elderly female patients.

Breast cancer associated with type-1 neurofibromatosis is a rare clinical entity. These patients have a higher risk of developing various types of cancers, especially tumors derived from the embryogenic neural crest, such as pheochromocytoma. This publication aims to add to the literature a rare association between Type-1 Neurofibromatosis, breast cancer, and pheochromocytoma.We present a rare case of a 51-year-old Tunisian woman with neurofibromatosis who was diagnosed with breast cancer and pheochromocytoma. The breast tumor was classified as T4b N1M0, and the discovery of the pheochromocytoma was incidental to thoracic-abdominal-pelvic CT. She underwent surgery to remove the adrenal gland and was referred to medical oncologists to receive chemotherapy for her breast cancer. Type-1 Neurofibromatosis disorder is a benign disease but can expose patients to numerous neoplasms. The challenging diagnosis at an early stage can worsen the prognosis and make medical care more difficult.

A very unusual, interesting, and challenging case of a 24-year-old female who was born with three openings in the neck. The patient had chronic abdominal gaseous distention, recurrent abdominal pain, and constipation since early infancy. The patient presented in emergency with acute painful red, hot, and tender swelling in the left upper cervical area. Laboratory studies showed high inflammatory markers and a provisional diagnosis of abscess with a sinus was made. The patient underwent an emergency incision and drainage. Sinus recurred and a sinogram showed it to be a residual cyst in the left submandibular salivary gland. The total cyst excision was attempted with resultant recurrence and grade IV facial nerve palsy. Post-operatively recurrent infections caused by Methicillin-resistant Staphylococcus aureus (MRSA) required several courses of oral and intravenous broad-spectrum antibiotics with several hospital admissions with no resolution in sight. Subsequent ultrasound and magnetic resonance imaging showed a residual infected cyst, cutaneous sinus, and a fistula opening in the left ear canal. A diagnosis of branchial cyst type II of the first brachial cleft remnant with a fistula was established with bilateral branchial fistulas of the second branchial remnants and the associated colorectal hypoganglionosis based on radiological studies. The patient refused any further operative interventions. Therefore, the option of conservative treatment of hypoganglionosis with holobiotics consisting of prebiotics, probiotics and postbiotics, laxatives, dietary changes, lifestyle modifications, and dietary supplements started. All antibiotics were stopped. These therapies resulted in the resolution of residual first branchial remnants and recurrent MRSA infections with the improvement in the facial nerve palsy from grade V to grade III-IV together with an excellent cosmetic and functional result. The patient is doing well at follow-ups being infection-free for 18 months and repeat contrast-enhanced computed tomogram (CECT) has shown complete resolution of the residual cyst, sinus, and fistula with fibrosis.

Bone choristoma within a dermolipoma is a rare epibulbar tumor with a low prevalence. It is a benign tumor that does not usually cause discomfort or functional problems to patients who suffer from it. Its treatment is surgical and with an aesthetic purpose.We report the case of a 17-year-old patient with a bone choristoma, a tooth, within a dermolipoma.Epibulbar bone choristoma is a rare benign tumor that causes little discomfort to patients who suffer from it and is asymptomatic in most cases. Computed tomography (CT) is essential in its diagnosis and its treatment is surgical, but always due to aesthetic reasons.

Introduction: Bleeding from varices is a severe complication in patients with cirrhosis. Despite its treatment has been well established in the last three decades the mortality can be still high. This study compares the epidemiological features and the bleeding-related outcomes of a group of patients published about ten years ago with a more recent group of 168 consecutive patients. Methods: The diagnosis, the treatment, and the main outcomes (5-day failure, 5-day and 6-week rebleeding, 5-day and 6-week mortality) of variceal bleeding were evaluated according to the current guidelines.Results: The number of patients with cirrhosis admitted for variceal bleeding every year has progressively decreased in the last ten years. The age sex and severity of liver disease, evaluated with Child Pugh and MELD scores, were comparable in the two series. In the more recent series, there were significantly fewer patients with HCV infection and more patients with alcohol-related cirrhosis. The main outcomes of bleeding were comparable too. Overall, at 6 weeks 36.4% of patients did not overcome the bleeding episode. Conclusion: The decreasing incidence of bleeding from varices is likely attributable to antiviral treatment of HCV and HBV and the larger diffusion of beta-blockers in primary prophylaxis. Despite the larger application of the gold standard therapy, the mortality of variceal bleeding remains high in patients with cirrhosis.

Penile cancer, a rare but highly morbid disease, primarily manifests as squamous cell carcinoma (PSCC) originating from the squamous cells of the glandular and preputial skin. Late-stage diagnosis is common due to social stigma, psychological barriers, and nonspecific initial symptoms, resulting in poor overall survival rates, especially in metastatic cases. This case report illustrates a 38-year-old man with advanced metastatic PSCC, showcasing severe systemic manifestations and delayed presentation of the disease. Despite aggressive treatment options, the patient opted for palliative care, succumbing to the disease months after his diagnosis. Risk factors for PSCC include HPV infection, phimosis, chronic inflammation, and lifestyle factors, with higher prevalence in regions of low socioeconomic status. The psychological and sexual burden of penile cancer is significant, impacting patients’ well-being, mental health, and quality of life. In conclusion, efforts to reduce the stigma associated with penile cancer are crucial to prompt early diagnosis and treatment initiation. Encouraging seeking medical attention for symptoms can enhance the chances of recovery and minimize the need for invasive treatments. Addressing the psychosocial impact of the disease is imperative for holistic patient care.

Background: Apert syndrome is a type 1 acrocephalosyndactyly, a rare syndrome characterized by the presence of multiple craniosynostoses, dysmorphic facial manifestations, and syndactyly of hand and feet. It affects 1:100.00 of birth and is the second most common of syndromic craniosynostosis. Molecular genetic tests that identify the heterozygous pathogenic variant in FGFR2 genes - identical with Apert syndrome cost too high to be applicable in developing countries. Therefore, the diagnosis of Apert syndrome should be suspected from the clinical findings. Three cases from the Community of Indonesian Apert Warrior Group were collected. These series were based on medical and surgical records. We obtained the patient characteristics from the phenotypic manifestations only. Case report: We present a case of a newborn baby girl, with similar anatomical findings, such as skull shape abnormality, midface hypoplasia, intraoral disfigurement, and hands and feet deformities that resemble Apert Syndrome. Our series presents similar Apert syndrome characteristics, such as typical craniofacial dysmorphic with symmetrical syndactyly of both upper and lower extremities. These clinical findings are essential to establish an initial diagnosis of Apert Syndrome.

The drug and biopharmaceutical enterprises play a pivotal part in transforming healthcare through the incident and delivery of creative cures and remedies. This item explores the key facets of these areas, stressing their impact on healthcare.Pharmaceuticals, outlined as wealthy secondhand in the diagnosis, situation, or stop of disease, aim to restore, correct, or refine everyday functions. On the other hand, biopharmaceuticals (or biologicals) circumscribe sugars, proteins, nucleic acids, living containers, or tissues and are curative devices that arise natural beginnings to a degree persons, animals, or microorganisms. In contrast to common pills combined with synthetic processes, biopharmaceuticals are primarily acquired through unaffected processes, containing extraction from living constructions or production utilizing alteration of genetic material Table 1.•    Some usual biopharmaceuticals, originally gleaned from animals or persons, are immediately created through biotechnological advancements.•    For instance, healing insulin, previously gleaned from porcine pancreatic islets, is immediately made utilizing alteration of genetic material in yeast (Saccharomyces cerevisiae) or E. coli.•    Biopharmaceuticals caused by alteration of genetic material usually fall into three classifications:•    Substances nearly equal to the body’s own key signaling proteins.•    Monoclonal antibodies look like those caused by apiece human immune plan against bacteria.•    Receptor builds (fusion proteins) established uniformly happening receptors connected to the immunoglobulin frame.Examples includeFrom living systems: Whole blood and ancestry parts, organs and fabric transplants, stem containers, antibodies for inactive immunization, polluted microbiota, human bosom milk, and human reproductive containers.Produced by recombinant DNA: Blood determinants, fabric plasminogen activators, hormones, hematopoietic growth determinants, interferon, interleukin-located produce, vaccines, monoclonal antibodies, tumor loss determinants, therapeutic enzymes.•    Key dispute Pharmaceutical manufacturing•    Biopharmaceuticals•    Healthcare strike•    Innovative medicines•    Therapeutic fragments•    Recombinant DNA technologies•    Personalized cure•    Gene medicines•    Regulatory processes.

Background and purpose: Schizophrenia (SZH) is a chronic mental disorder affecting the individuals` thoughts, perceptions, emotions, and behaviors. People with SZH may experience a wide range of positive, negative, and cognitive symptoms. Since there are no laboratory assays for definite SZH diagnosis, the authors aimed to identify the cerebral volumetric variations in SZH patients with the most prevalent positive symptoms as a diagnostic tool. This study selected 15 SZH patients displaying the most prevalent positive symptoms based on the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) criteria. Assessment tools included the Mini-Mental State Examination (MMSE) for cognitive impairment, the Positive and Negative Syndrome Scale (PANSS) for symptom evaluation, and the Wechsler Intelligence Scale (WIS) for intelligence assessment. Additionally, 15 Healthy Controls (HC) without cerebral pathologies were recruited. T1w MRI images underwent analysis using Freesurfer software. Data analysis employed Mann-Whitney U and χ² tests, considering p < 0.05 as significant.Results: SZH and HC groups showed no significant differences in age and gender. However, significant (p < 0.05) alterations in Gray Matter (GM) volume were observed in SZH patients compared to HC. In the right hemisphere, several regions exhibited volume reduction, including the Fusiform sulcus, Rostral middle frontal gyrus, isthmus cingulate, Frontal pole, Middle temporal gyrus, Lateral occipital gyrus, and Inferior Parietal gyrus. Notably, the Precentral sulcus and Postcentral gyrus demonstrated volume acceleration. Similarly, in the left hemisphere, various regions showed volume reduction while the Paracentral gyrus indicated volume acceleration, all significant (p < 0.05).Conclusion: SZH patients display significant volumetric brain changes, indicating potential for future diagnostic procedures in SZH.

Accumulated condylomas are exophytic tumors with a warty and hyperkeratosic surface due to the Human papillomavirus (HPV). Its prevalence in children is difficult to estimate due to limitations in epidemiological data. Its recurrent character is found in 30% of patients. Its management is very complex in children because of skin fragility. Circumcision is an operation consisting of the removal of part of the foreskin. This practice is done either with a simple knife or a pair of non-aseptic scissors which can be a source of contamination including HPV (Condyloma). Traditional circumcision does not seem to be reported in the literature as a mode of contamination. We report a case of genital condyloma in a child 2 years after circumcision. This is a 2-year-old male with no medical history but with a surgical history of circumcision that was brought by his parents in dermatological consultation for papular lesions accumulated on the penis. At the interrogation, we found the notion of recent circumcision performed by a tradithérapeute. The physical examination finds a good general condition. Dermatological examination reveals on the glans of multiple papules, exophitic, with warty and hyperkeratotic surface, of normal skin color. Furthermore, the physical examination of both parents was normal. The diagnosis of accumulated condyloma secondary to probable circumcision was retained before the clinical appearance of the lesions. Two electrocoagulation sessions spaced one month apart under local anesthesia were the treatment with a favorable evolution.

Background: Early-onset sarcoidosis is a rare systemic inflammatory granulomatous disease, distinguished by onset before the age of 4 and notably lacking pulmonary involvement. Unfortunately, the condition often shows clinical features similar to juvenile idiopathic arthritis, resulting in the misdiagnosis of numerous patients. This case report delves into the challenges associated with the delayed diagnosis of early-onset sarcoidosis, with a particular focus on the diagnostic methods employed to address this delayed recognition.Case presentation: A 15-year-old girl presented with a history of recurrent fever since infancy, accompanied by rash, arthritis, and joint deformity. Previously misdiagnosed with juvenile idiopathic arthritis, she underwent management with steroids and methotrexate, yielding no improvement. The diagnosis of early-onset sarcoidosis was made during adolescence based on serial examinations, comprehensive laboratory and radiological evaluations, and subsequent histopathology findings. Presently, the patient is receiving treatment with low-dose steroids and biologic therapy (Tocilizumab) and experiencing no disease progression.Conclusion: This case report underscores the importance of considering early-onset sarcoidosis in the differential diagnosis of pediatric patients exhibiting persistent arthritis from an early age. Early detection and treatment are crucial in averting complications and enhancing the overall quality of life. 

Background: Dysgerminomas, account for only 1% - 2% of all malignant ovarian neoplasms.Objective: This case report aims to present a rare occurrence of dysgerminoma in a pediatric patient, highlighting the clinical characteristics, diagnosis, and management.Case presentation: We present a case of dysgerminoma in a 12-year-old girl who presented with a three-week history of pelvic pain and progressive abdominal swelling. Physical examination revealed a distended abdomen with evident suprapubic fullness, and a palpable abdominopelvic mass measuring approximately 20 weeks in size. Imaging studies confirmed the presence of a solid heterogeneous mass originating from the pelvis. The patient underwent a right salpingo-oophorectomy without complications. Histological examination coupled with an immunohistochemical study confirmed the diagnosis of dysgerminoma. The patient had an uneventful postoperative course and was discharged without adjuvant treatment. Regular follow-up visits, physical examinations, ultrasound scans, and lactate dehydrogenase assays were initiated for monitoring. Conclusion: Prompt recognition and appropriate surgical intervention, followed by regular monitoring, are crucial for optimal outcomes in pediatric dysgerminoma cases.

With the increase in incidence and prevalence of myeloid neoplasms in India, it has become a necessity to understand its molecular mechanisms, acquisition of genomic alterations, and understand its primary and secondary resistance pathways which ultimately impact the decision of therapeutics. The objective of this review is to investigate the molecular aspects of this disease type and identify the biomarkers that help with diagnosis, risk assessment, prognosis, and selecting the best line of treatment for a specific myeloid neoplasm. Advancements and innovations in molecular technologies from simplest Real-Time PCR to high throughput next-generation sequencing have played a vital role in screening the most common mutations and fusions to the novel and rare. Molecular technologies have helped to enumerate the genomic landscape of myeloid malignancies. The understanding of both- the mechanisms and the technology is a strong combination as it has helped revolutionize precision oncology and helped in giving better therapeutic choices with better clinical outcomes. The importance of cellular morphology, clinical symptoms, and molecular pathology in assessing the risk of myeloid malignancies is emphasized and summarized in the review. The review concludes that understanding molecular pathogenesis can be improved by using clinical-pathological-molecular strategies for diagnosis and therapy decision-making.

Periacetabular Osteotomy (PAO) is the gold standard for the treatment of hip dysplasia or acetabular retroversion. Due to the proximity of intra-pelvic arteries, there is a risk of iatrogenic vascular injuries, which can present with a delay and should be part of the differential diagnosis of significant pain following a PAO. We present the case of a never-described vascular injury following a periacetabular osteotomy in a 25-year-old woman who presented with gluteal pain 3 weeks after surgery. A delayed diagnosis of a pseudoaneurysm of the superior gluteal artery was made and successfully treated by embolization. The lesion is most probably related to the tip of a screw or to the drilling process.