Lead poisoning as a differential diagnosis in pediatric patients with chronic abdominal pain: a case-control study in Tehran-Iran.

BACKGROUND: Chronic abdominal pain is a potential symptom of lead poisoning, which is often challenging to diagnose. This case-control study aimed to evaluate blood lead levels in pediatric patients with chronic abdominal pain. METHODS: The case-control study was conducted on 190 pediatrics who presented to the Children's Medical Center Hospital clinics, Tehran between April 2021- 2023. The children were divided into two groups: the case group, consisting of 81 patients with chronic abdominal pain, and the matched control group; 109 children without any gastrointestinal symptoms. The statistical analysis of the data was performed using STATA 16. A multiple logistic regression model was used to assess the association of different independent variables with chronic abdominal pain. RESULTS: There was no significant difference between mean (± standard deviation [SD]) of age (8.80(2.7) years vs. control group: 9.23(3.9) years), sex, and BMI (16.55(4.6) vs. 17.32(4.7)) of the patients with chronic abdominal pain (case group) and the control group, whereas the mean weight was remarkably low in patients with chronic abdominal pain: 27.25(± 12.1) kg vs. 31.70(± 14.7) kg (P value = 0.028). Fifty-nine percent of children with chronic abdominal pain had serum lead levels ≥ 10 µg/dL. The mean (SD) of blood lead levels was statistically high in the case group: 11.09 (± 5.35) µg/dL vs. control group: 8.26 (± 5.01) µg/dL) (P value ≤ 0.05). The appetite level was significantly low in the case group: 3.8 (± 2.5) vs. control group 5.4 (± 1.3). CONCLUSIONS: Lead poisoning could be a possible cause of children's chronic abdominal pain. Regarding the high rate of lead poisoning in children exerting appropriate measures to reduce their exposure to lead is necessary.

Surrogate Immunohistochemical Markers of Proliferation and Embryonic Stem Cells in Distinguishing Ameloblastoma from Ameloblastic Carcinoma.

PURPOSE: The current study aimed to investigate the use of surrogate immunohistochemical (IHC) markers of proliferation and stem cells to distinguish ameloblastoma (AB) from ameloblastic carcinoma (AC). METHODS: The study assessed a total of 29 ACs, 6 ABs that transformed into ACs, and a control cohort of 20 ABs. The demographics and clinicopathologic details of the included cases of AC were recorded. The Ki-67 proliferation index was scored through automated methods with the QuPath open-source software platform. For SOX2, OCT4 and Glypican-3 IHC, each case was scored using a proportion of positivity score combined with an intensity score to produce a total score. RESULTS: All cases of AC showed a relatively high median proliferation index of 41.7%, with statistically significant higher scores compared to ABs. ABs that transformed into ACs had similar median proliferation scores to the control cohort of ABs. Most cases of AC showed some degree of SOX2 expression, with 58.6% showing high expression. OCT4 expression was not seen in any case of AC. GPC-3 expression in ACs was limited, with high expression in 17.2% of ACs. Primary ACs showed higher median proliferation scores and degrees of SOX2 and GPC-3 expression than secondary cases. Regarding SOX2, OCT4 and GPC-3 IHC expression, no statistically significant differences existed between the cohort of ABs and ACs. CONCLUSION: Ki-67 IHC as a proliferation marker, particularly when assessed via automated methods, was helpful in distinguishing AC from AB cases. In contrast to other studies, surrogate IHC markers of embryonic stem cells, SOX2, OCT4 and GPC-3, were unreliable in distinguishing the two entities.

Linear Atrophoderma of Moulin: A Case Report.

Linear Atrophoderma of Moulin is a rare skin condition that is characterized by the development of one or more atrophic patches or depressions in the skin. These patches are usually located on the trunk, but they can also occur on the arms, legs, and neck. We here present a case of 33-year Nepalese male with brown to black color lesions over the left upper back, abdomen and thigh for the last 7 years. Clinical and dermatopathological findings were similar to the Linear Atrophoderma of Moulin. To our knowledge, this is the first case of LAM from Nepal. This case emphasizes the necessity of diagnosing Atrophoderma of Moulin and separating it from linear scleroderma due to differences in therapy and prognosis.

'Color Doppler stripes' make it difficult to diagnose the severity of valvular heart diseases: a report of two cases.

BACKGROUND: Echocardiography remains the reference-standard imaging technique for assessing valvular heart disease (VHD), but artifacts like the 'color Doppler stripe' can complicate diagnosis. This artifact is not widely recognized and can mimic severe VHD, leading to potential misdiagnoses. We present two cases where color Doppler stripes mimicked severe VHD, highlighting the need for awareness and accurate interpretation in echocardiographic assessments. CASE PRESENTATIONS: Case 1: An 85-year-old patient was referred for mitral valve surgery due to suspected severe mitral regurgitation (MR). Upon evaluation, transthoracic echocardiography (TTE) showed mitral valve prolapse (P3) and a high-echoic, vibrating structure attached to the mitral valve, indicative of chordal rupture. Color Doppler echocardiography revealed strong systolic signals in the left atrium, mimicking severe MR. Transesophageal echocardiography (TEE) also detected the vibrating structure and color Doppler stripes in the left atrium, left ventricle, and outside the cardiac chambers. The PISA method on TEE indicated moderate MR and left ventriculography showed Sellers grade II MR. The artifact was identified as color Doppler stripes caused by the vibrating high-echoic structure from the ruptured chorda. Case 2: A 64-year-old patient with severe aortic stenosis, end-stage kidney disease requiring hemodialysis, and a history of coronary bypass grafting presented for routine follow-up. B-mode echocardiography showed a severely calcified tricuspid aortic valve with a vibrating calcified nodule and restricted opening, corresponding to severe aortic stenosis. During systole, color Doppler signals were observed around the aortic, pulmonary, and tricuspid valves, mimicking significant pulmonary stenosis and tricuspid regurgitation. However, pulmonary stenosis was ruled out as the pulmonary valve opening was normal. Mild tricuspid regurgitation was confirmed in the apical view. CONCLUSIONS: These cases highlight the diagnostic challenges posed by color Doppler stripes. Recognizing and understanding this artifact are crucial for the accurate diagnosis and management of VHD, ensuring appropriate treatment and patient outcomes.

Isolated liver gastrointestinal stromal tumor: A case report.

Gastrointestinal stromal tumors (GISTs) originate from the gastrointestinal tract. GISTs originate outside the gastrointestinal tract, referred to as extra GISTs, which is rare. Primary liver gastrointestinal stromal tumor (PLGIST) and liver metastasis of gastrointestinal stromal tumor (LMGIST) may present isolated liver lesion, making it difficult to determine their origin. A 38-year-old man who presented with isolated multiple giant cystic-solid liver lesions, ultimately diagnosed as liver GIST through CT-guided fine-needle aspiration. However, distinguishing between PLGIST and LMGIST in this case is challenging due to the absence of detailed medical records of emergency small intestine resection 5 years ago. Over 2-year follow-up period, the maximum lesion size increased from 16 to 21 cm, still, no extra liver lesions were observed. This study aims to provide a review to enhance understanding of this rare liver entity, aiding in tumor diagnosis and staging.

Tuberculosis presenting as Anterior Mediastinal Mass: A Case Report.

ABSTRACT: The mediastinum, located between the pleural sacs, has three compartments. The anterior mediastinum spans anteriorly from the sternum to the pericardium and brachiocephalic vessels posteriorly. Common lesions in this area include thymomas, lymphomas, teratomatous neoplasms, and thyroid masses. A mediastinal mass in the setting of tuberculous meningoencephalitis is an uncommon presentation of tuberculosis. We present a case of a 20-year-old girl with fever and headache diagnosed with tuberculous meningoencephalitis. A thorough workup revealed an anterior mediastinal mass, histopathologically diagnosed as tubercular in origin. Treatment involved surgery and antituberculosis therapy. Tuberculosis can manifest uniquely, and an isolated mediastinal mass, especially in an immunocompetent individual, is unusual. Treatment typically involves a combination of antimicrobial medications, and in some cases, surgical intervention may be necessary to address complications or persistent masses. This case emphasizes the importance of considering tuberculosis as a diagnosis when a patient presents with a mass in the anterior mediastinum.

MIS-C Like Features in a Patient of Atypical Kawasaki Disease: A Case Report.

ABSTRACT: Kawasaki Disease is multisystem vasculitis affecting young children and infants. While the diagnosis of a typical form of Kawasaki Disease is obvious, there are some patients who do not fulfill the classic diagnostic criteria for the disease which is termed as 'incomplete Kawasaki Disease' or 'Atypical Kawasaki Disease'. We present a case of a 6 months old child with fever who after failing to respond to IV antibiotics showed considerable improvement after administering aspirin and Intravenous Immunoglobulin thus diagnosed as Atypical Kawasaki Disease. Moreover, due to sharing of similar features by both Kawasaki Disease and Multiple Inflammatory Syndrome in Children, the case posed a diagnostic dilemma.

Primary Solitary Uterine Hydatid Cyst Mimicking an Intramyometrial Cyst: A Case Report.

ABSTRACT: Like many agricultural countries, cystic echinococcal zoonotic disease is endemic in Nepal. Incidence of hydatid cyst in liver and lungs are common among the adult population but hydatid cyst of the uterus is an extremely rare entity. We report a case of a 76-year-old menopausal lady who presented with lower abdominal pain for 4 months and underwent laparotomy for provisional diagnosis of myometrial cyst, as shown by MRI scan, however the cyst was found to be primary hydatid cyst of uterus. Postoperatively serological test for hydatid cyst was positive for echinococcus granulosus, further confirmed by histopathological diagnosis. Hence in endemic areas like ours, there should be high index of suspicion of the possibility of hydatid cyst as a differential for cystic pelvic masses.

Beyond the Liver: Neurologic Manifestations of Alcohol Use.

Alcohol use, while commonly associated with liver damage, also has significant neurologic implications, which often mimic hepatic encephalopathy and complicate diagnosis and management. Alcohol mediates its acute central nervous system effects by altering neurotransmitter balance, notably between gamma-aminobutyric acid and glutamate. Its chronic neurotoxicity, compounded by thiamine deficiency, results in chronic neurologic complications. Clinically, alcohol-related neurologic disorders present a spectrum from acute intoxication and withdrawal to chronic conditions like Korsakoff syndrome, dementia, cerebellar degeneration, and peripheral neuropathy. This review underscores differentiating these conditions from hepatic encephalopathy and highlights the importance of history-taking and physical examination in clinical practice.

Unusual presentation of PYGM gene mutation as late-onset McArdle disease with camptocormia: a case report.

BACKGROUND: Glycogen storage disease type 5 (McArdle disease) leads to a deficiency in the activity of myophosphorylase resulting in an impaired glucose utilization. The disease can be caused by a variety of mutations in the PYGM gene, and its typical clinical manifestation is muscles weakness within the first three decades of life. CASE PRESENTATION: In this case report we present the diagnostic work-up of a physically active 78-year-old Caucasian patient suffering from a 2-year history of progressive camptocormia including clinical, radiologic, histological, and genetic tests. There was no history of neuro-muscular diseases in the family. Serum CK levels were moderately increased while other blood/urine parameters were normal. Magnetic resonance imaging showed fatty remodeling of the muscles of the back. Histochemical examination of a muscle biopsy revealed the absence of myophosphorylase activity, while gene analysis identified a known early-onset McArdle mutation in the PYGM gene. CONCLUSION: This case highlights that the clinical spectrum of PYGM gene mutation typically manifest during adolescence, but it is also a differential diagnosis in late onset muscle disorders and emphases the investigation of the role of ACE inhibitors in this disease.

Differentiation Between Phyllodes Tumor and Fibroadenoma of the Breast: A Radiomics Prediction Model Based on Full-Field Digital Mammography & Digital Tomosynthesis.

OBJECTIVE: To assess the diagnostic performance of FFDM-based and DBT-based radiomics models to differentiate breast phyllodes tumors from fibroadenomas. METHODS: 192 patients (93 phyllodes tumors and 99 fibroadenomas) who underwent mammography were retrospectively enrolled. Radiomic features were respectively extracted from FFDM and the clearest slice of DBT images. A least absolute shrinkage and selection operator (LASSO) regression was used to select radiomics features. A combined model was constructed by radiomics and radiological signatures. Machine learning classification was done using logistic regression based on radiomics or radiological signatures (clinical model). Four radiologists were tested on phyllodes tumors and fibroadenomas with and without optimal model assistance. The area under the receiver operating characteristic (ROC) curve (AUC) was computed to assess the performance of each model or radiologist. The Delong test and McNemar's test were performed to compare the performance. RESULTS: The combined model yielded the highest performance with an AUC of 0.948 (95%CI: 0.889-1.000) in the testing set, slightly higher than the FFDM-radiomics model (AUC of 0.937, 95%CI: 0.841-0.984) and the DBT-radiomics model (AUC of 0.860, 95%CI: 0.742-0.936) and significantly superior to the clinical model (AUC of 0.719, 95%CI: 0.585-0.829). With the combined model aid, the AUCs of four radiologists were improved from 0.808 to 0.914 (p=0.079), 0.759 to 0.888 (p=0.015), 0.717 to 0.846 (p=0.004), and 0.629 to 0.803 (p=0.001). CONCLUSION: Radiomics analysis based on FFDM and DBT shows promise in differentiating phyllodes tumors from fibroadenomas.

Colitis cystica profunda associated with diverticulosis and calcification mimicking colorectal carcinoma: a case report and a brief literature review.

Colitis cystica profunda (CCP) is a rare, uncommon and nonneoplastic condition that can occur anywhere in gastrointestinal tract, but its main occurrence is in the rectum and sigmoid colon. It is characterized by the presence of mucin filled cysts, lined by benign epithelium, beneath the muscularis mucosae, usually confined to the submucosa, and it can clinically and radiologically mimic a neoplasm. Here we report a rare case of CCP in a patient with a 2-months history of abdominal pain and severe anemia, associated with diverticulosis. The knowledge of this entity and its differential diagnosis, in particular with the intestinal mucinous adenocarcinoma, is necessary, as it can be a clinically and histological mimic of a malignant neoplasm.

[Dementia in Down syndrome]. / Nya forskningsrön om Alzheimers sjukdom vid Downs syndrom.

Individuals with Down syndrome (DS) have increased prevalence of Alzheimer's disease (AD) at an earlier age than the general population. Diagnostic tools that can improve diagnosis and treatment of dementia in DS and differentiate between dementia and intellectual disabilities include cognitive batteries, sensitive plasma assays, and PET imaging for amyloid and tau. Adults with DS should be included in memory clinic assessments and offered appropriate medications available to the general population with dementia. The Swedish dementia registry, SveDem, has added the diagnosis AD due to the genetic overload in DS, providing a national diagnostic registry for those with DS.

Influence of sex and functional status on the value of serum steroid profiling in discriminating adrenocortical carcinoma from adrenocortical adenoma.

Background: It is challenging for clinicians to distinguish adrenocortical carcinoma (ACC) from benign adrenocortical adenomas (ACA) in their early stages. This study explored the value of serum steroid profiling as a complementary biomarker for malignancy diagnosis of ACC other than diameter and explored the influence of sex and functional status. Methods: In this retrospective study, a matched cohort of patients diagnosed with either ACC or ACA based on histopathology was meticulously paired in a 1:1 ratio according to sex, age, and functional status. Eight serum steroids including 11-deoxycortisol, 11-deoxycorticosterone, progesterone, androstenedione, dehydroepiandrosterone (DHEA), dehydroepiandrosterone sulfate (DHEAS), 17-hydroxyprogesterone, and estradiol, were quantified by liquid chromatography tandem mass spectrometry. We conducted a comparative analysis of the clinical characteristics and serum steroid profiles of patients with ACC and ACA, with further subgroup analysis. Results: The study included 31 patients with ACC and 31 matched patients with ACA. Patients with ACC exhibited significantly larger tumor diameters, lower body mass index (BMI), and higher levels of 11-deoxycortisol, progesterone, and androstenedione than those with ACA. 11-deoxycortisol was the only valuable index for discriminating ACC from ACA, regardless of functional status and sex. Progesterone, DHEA, and DHEAS levels were higher in the functional ACC group than in the non-functional ACC group. Female ACC patients, especially in postmenopausal female exhibited higher levels of androstenedione than male patients. The area under the curve of tumor diameter, 11-deoxycortisol, and BMI was 0.947 (95% CI 0.889-1.000), with a sensitivity of 96.8% and specificity of 90.3%. Conclusion: Serum steroid profiling serves as a helpful discriminative marker for ACC and ACA, with 11-deoxycortisol being the most valuable marker. For other steroid hormones, consideration of sex differences and functional status is crucial.