OpenMed/multicare-articles huggingface dataset:
Case Report: Successful R0 resection in locally advanced retroperitoneal sarcomas
Authors: Peter Bael, Bayan Alqtishat, Khaled Alshawwa
Journal: Front Surg (2024)
Keywords: ivc graft, r0 resection, case report, leiomyosarcoma, liposarcoma, multidisciplinary involvement, retroperitoneal sarcomas
MeSH terms: Case Reports

We present a case series of three successfully resected tumors in our center at Al-Makassed Hospital in Jerusalem, Palestine, all of which primarily involved or invaded adjacent structures and needed a multidisciplinary approach to achieve R0 resection. Our first patient is a 42-year-old previously healthy female with intermittent attacks of dull aching abdominal pain. Her tumor was a leiomyosarcoma that involved major vessels and other adjacent vital structures. Ultimately, she needed major highly advanced surgery necessitating the need for vascular reconstruction of the IVC, as well as R0 resection. The surgery was performed by a multidisciplinary team of highly specialized surgeons in related fields. Our second case is a 75-year-old female patient with a well-differentiated liposarcoma invading the upper pole of the right kidney, necessitating a nephrectomy. Consequently, this case demanded the interdisciplinary involvement of nephrology. Our third patient is a 59-year-old male with dedifferentiated liposarcoma that involved the spleen, pancreas, and splenic flexure while engulfing the left kidney and ureter. Beyond the removal of the tumor, multiorgan resection was imperative to achieve microscopic margin-free resection. This extensive local spread needed broad collaboration from the medical team and other surgical subspecialties. All surgeries went well, and their outcomes were promising. All patients had an uneventful follow-up and, to date, no recurrence. Invasive retroperitoneal sarcomas of different histological types and clinical stages represent a technical challenge. Careful preoperative investigation and an experienced, dedicated multidisciplinary team of surgeons and non-surgeons from related fields, including vascular, urologic, and hepatobiliary surgeons, are usually needed for a safe and successful R0 resection despite extensive tumor involvement in light of difficulty achieving early diagnosis.
Unusual Presentation of a Hepatic Neuroendocrine Tumor With Elevated CEA and CA 19-9: A Case Report
Authors: Eli Zolotov, Anat Sigal, Sara Hazaveh, Vanisha Patel, Hongfa Zhu
Journal: Cureus (2024)
Keywords: ca 19-9, cancer antigen 19-9, carcinoembryonic antigen (cea), cirrhosis mimicry, gastrointestinal tract neoplasm, neuroendocrine tumors (nets), primary liver neuroendocrine tumor, reactive fibrosis, serum tumor markers
MeSH terms: Case Reports

Neuroendocrine tumors (NETs) of the gastrointestinal tract (GIT) are rare malignancies, which may have unique presentations. The diagnostic process predominantly relies on immunohistochemical analysis. While tumor markers are extensively utilized in diagnosing and monitoring GI malignancies, their specific role in NETs has not been fully explored. This case describes an 83-year-old male presenting with jaundice and general weakness. Diagnostic imaging through MRI and CT angiography (CTA) revealed a nodular texture on the liver's surface suggesting cirrhosis. The presence of elevated tumor markers, specifically carcinoembryonic antigen (CEA) and cancer antigen 19-9 (CA 19-9), raised suspicions of malignancy. A subsequent liver biopsy confirmed the diagnosis of small-cell high-grade neuroendocrine carcinoma accompanied by reactive fibrosis. As per our knowledge, this case is the first recorded instance of a liver neuroendocrine tumor (NET) exhibiting elevated levels of both CEA and CA 19-9, with no abnormalities detected in the gallbladder, biliary tree, and bowel in the MRI with magnetic resonance cholangiopancreatography (MRCP) and CTA. This is an atypical presentation of a liver NET, mimicking cirrhotic liver morphology, and underscores the potential diagnostic relevance of tumor markers CEA and CA 19-9 in such cases.
Cranial Rosai-Dorfman disease: a case report and literature review
Authors: JunBo Lv, JiBo Hu, Houyun Xu, Xiping Yu
Journal: Front Oncol (2024)
Keywords: cranial histiocytosis, diagnostic imaging of bone lesions, differential diagnosis in histiocytosis, extranodal rosai-dorfman disease, temporal bone surgery
MeSH terms: Case Reports

Rosai-Dorfman Disease (RDD) is a rare, benign, idiopathic histiocytic proliferative disorder, with its occurrence in the cranial bones being particularly uncommon and prone to misdiagnosis in preoperative radiological examinations. This article reports a case of RDD in the left temporal bone. The radiological presentation of intraosseous RDD includes osteolytic bone destruction, infrequent periosteal reaction, clearly defined tumor margins, and marked uniform enhancement on contrast-enhanced scans. However, these radiological features lack specificity, highlighting the necessity of histopathological examination for a definitive diagnosis, especially for the rarer extranodal subtypes of RDD. Surgical excision of the lesion can lead to favorable therapeutic outcomes.
Paracoccidioidomycosis manifested by sarcoid-like cutaneous lesions with severe systemic disease: a rare and challenging diagnosis
Authors: Bruna Dos Anjos Bortolini, Rachel Bertolani do Espírito Santo, Lucia Martins Diniz, Robson Dettmann Jarske, Natália Tebas de Castro
Journal: Rev Soc Bras Med Trop (2024)
MeSH terms: Paracoccidioidomycosis / complications, Paracoccidioidomycosis / diagnosis, Sarcoidosis / complications, Sarcoidosis / diagnosis, Case Reports, Diagnosis, Differential, Diagnostic Errors, Humans, Skin / pathology

Cutaneous involvement in paracoccidioidomycosis (PCM) can exhibit a highly polymorphic spectrum. The infiltrative pattern corresponds to up to 26.6% of observed skin lesions, including sarcoid-like plaques, a rare presentation of cutaneous lesions in PCM. This clinical expression is almost exclusively cutaneous, and its histology reveals a tuberculoid granuloma with a scarcity of fungi, leading to misdiagnosis as other granulomatous diseases. Here, we report a rare form of chronic multifocal paracoccidioidomycosis manifesting as sarcoid-like skin lesions misdiagnosed as granulomatous rosacea in a patient with severe systemic disease.
Challenges in the management of familial hypercholesterolemia: a case report
Authors: Joanna Rogozik, Marcin Grabowski, Renata Główczyńska
Journal: Front Cardiovasc Med (2024)
Keywords: ldlr gene, pcsk9, case report, familial hypercholesterolemia, inclisiran
MeSH terms: Case Reports

Background:
Familial hypercholesterolemia (FH) is a serious genetic condition that results in abnormally high levels of low-density lipoprotein cholesterol (LDL-C) in the bloodstream, significantly increasing the risk of early onset of cardiovascular disease. The heterozygous form of FH (HeFH) is widespread, affecting around 1 in 500 people worldwide.
Case report:
In this clinical report, we present the case of a patient who suffers from HeFH due to a mutation in the LDL receptor (LDLR) gene. A woman exhibited intolerance to statin therapy and did not attain adequate reduction in low-density lipoprotein cholesterol (LDL-C) levels on ezetimibe monotherapy. Genetic testing confirmed the presence of a pathogenic variant for FH with the deletion of exons 7-14. The administration of alirocumab (a dose of 150 mg sc) as the primary therapy did not exhibit the desired therapeutic outcome. Consequently, the patient was given inclisiran therapy (a dose of 284 mg sc), which significantly reduced LDL cholesterol levels after 3 months of treatment and during the 1-year follow-up.
Conclusion:
Inclisiran therapy has shown promising results for individuals with HeFH who experience statin intolerance. This therapy works by using a small interfering RNA (siRNA) to target the mRNA of proprotein convertase subtilisin/kexin type 9 (PCSK9), which leads to a significant reduction of LDL-C levels. This approach can be an alternative for patients without significant reductions in LDL-C levels with PCSK9 inhibitor therapy. For HeFH patients with limited treatment options due to statin intolerance and genetic mutations, inclisiran can represent a promising therapeutic option.
Septic Arthritis of the Acromioclavicular Joint: A Case Report
Authors: Serena Tally, Michael Head, Kerri Kraft
Journal: J Educ Teach Emerg Med (2024)

Septic arthritis of native joints is uncommon, but the condition can be threatening to life and limb if left untreated.1 Septic arthritis of the acromioclavicular (AC) joint of the shoulder is particularly rare and has only appeared sparsely in medical literature, mainly through individual case reports. Early recognition and treatment of the condition is vital, but diagnosis of septic AC arthritis can be difficult due to its presentation with vague symptoms and nonspecific laboratory findings. This case report describes the care of a patient with poorly managed diabetes who presented to the emergency department with one month of pain and swelling of the left shoulder and two weeks of pain and swelling in the right ankle. Imaging revealed fluid in the AC joint, and laboratory evaluation showed an elevation in inflammatory markers, including leukocyte count, C-reactive protein (CRP), and erythrocyte sedimentation rate (ESR). The patient's hospital course was complicated by methicillin-sensitive Staphylococcus Aureus bacteremia without evidence of sepsis. The patient underwent open debridement and washout of both the ankle and AC joint without complication. After recovery, the patient was discharged to a rehabilitative center with IV antibiotics and weekly follow up care with infectious disease specialists. This case illustrates the importance of early diagnosis and treatment of septic arthritis, even in less common joint spaces, to prevent progression of this dangerous disease.
Topics:
Septic arthritis, acromioclavicular joint, diabetes, bacteremia.
Disseminated Acanthamoeba castellanii infection in a patient with AIDS: a case report and literature review
Authors: Qunqun Jiang, Zhongwei Zhang, Yuxiang Cai, Liangjun Chen, Liping Deng, Yong Xiong
Journal: Front Med (Lausanne) (2024)
Keywords: aids, acanthamoeba castellanii, case report, diagnosis, metagenomic next-generation sequencing, treatment
MeSH terms: Case Reports

Background:

Acanthamoeba castellanii infection is a rare condition primarily occurring in immunocompromised patients with extremely high mortality. Currently, there is no standard treatment for this condition, and successful treatment reports are scarce.
Case presentation:
We present a case of Acanthamoeba castellanii infection in a 63-year-old female patient with AIDS, who was admitted to our hospital with symptoms of fever, skin ulcers, subcutaneous nodules, and food regurgitation from the nose while eating. After initial empirical treatment failed, a biopsy of the subcutaneous nodule was performed, and metagenomic next-generation sequencing (mNGS) technology was used to detect pathogenic microorganisms in both the biopsy specimen and blood samples. The results revealed Acanthamoeba castellanii infection. Additionally, histopathological examination of the biopsy specimen and cytological examination of the secretions from the ulcer surface also confirmed this pathogenic infection. The patient's symptoms significantly improved upon discharge after adjusting the treatment regimen to a combination of anti-amebic therapy.
Conclusion:
Immunocompromised patients presenting with unexplained fever and skin or sinus lesions should be evaluated for Acanthamoeba castellanii infection. Multi-drug combination therapy is required for this organism infection, and a standard treatment protocol still needs further research. Metagenomic next-generation sequencing is a valuable tool for early diagnosis of unknown pathogen infections.
Case Report: Rapid and progressive left ventricular endocardial calcification in an infant with Williams syndrome
Authors: Jie Zhou, Dan Liu, Jiao Chen
Journal: Front Pediatr (2024)
Keywords: williams syndrome, arterial stenosis, cardiovascular disease, endocardial calcification, infant
MeSH terms: Case Reports

Williams syndrome (WS) is characterized by a range of clinical features, including cardiovascular disease, distinctive facial traits, neurobehavioral disorders, and a condition known as transient infantile hypercalcemia. Among these, endocardial calcification represents a non-specific response to severe, etiologically diverse myocardial injuries. In this report, we document a unique case involving an infant with WS who exhibited rapidly progressive arterial stenosis and left ventricular endocardial calcification, associated with a novel heterozygous deletion. While arterial stenosis is the most frequently observed cardiovascular issue in WS, instances of endocardial calcification during infancy are exceedingly rare and have not previously been reported in the context of WS.
Synchronous mucinous metaplasia and neoplasia of the female genital tract with both pulmonary metastases and STK11/KRAS gene mutations: a case report
Authors: Ru Wang, Hao Yu, Ming Liu, Ting Hao, Xiangyu Wang, Lianbao Cao
Journal: Front Oncol (2023)
Keywords: kras, smmn-fgt, stk11, gene mutations, pulmonary metastases
MeSH terms: Case Reports

Multiple morphological changes in two or more sites of concurrent multifocal mucinous lesions in the female genital tract are indicative of SMMN-FGT, which is unrelated to high-risk HPV infection. MUC6 and HIK-1083 showed positive characteristic immunohistochemistry. Seldom is the condition described. Here we describe an SMMN-FGT patient who also had lung metastases and STK11/KRAS gene mutations. Based on the current researches, we hypothesize that SMMN-FGT is closely associated with the development of cervical gastric adenocarcinoma.
Case report: Spontaneous abortion of monoamniotic twins at the third trimester of pregnancy in Camelus dromedarius
Authors: Mohammad Shamim Hossein, Young-Bum Son, Yeon Ik Jeong, Mina Kang, Seejin Lee, Alex Tinson, Woo Suk Hwang
Journal: Front Vet Sci (2023)
Keywords: abortion, camels, late-term, monoamniotic twins, pregnancy loss
MeSH terms: Case Reports

Monoamniotic twins develop when a blastocyst spontaneously splits its progenitor cells, and each group of progenitor cells independently grows to become an individual. It is the rarest type of twin pregnancy and usually has significant developmental or congenital abnormalities, a higher rate of abortion, perinatal morbidity, and mortality. There is no information regarding monoamniotic twins in livestock species. Here, we reported a spontaneous abortion of monoamniotic twins in a dromedary camel at 278 days of gestation. Gonadorelin acetate (100 μg) was injected intramuscularly to induce ovulation in the recipient. A 7 days-old embryo produced by somatic cell nuclear transfer was transferred transcervically to the recipient. Early pregnancy was confirmed by an elevated level of serum progesterone followed by ultrasonography at 22 and 44 days after embryo transfer. A single sac was observed on 22 days while twins were evident 44 days after embryo transfer. Pregnancy was periodically monitored by the tail-up phenomenon. A ruptured fetal sac was observed on the ground having two fetuses. On autopsy, full-grown fetuses were found. Their bodies were separated. There was no congenital anomaly or any malformation in the fetuses. According to the reported chronology in human twins, we hypothesized that the blastocyst splitted before 13 days as it was monoamniotic and not conjoined. If the embryo splits within 4 to 8 days, it develops two amniotic sacs, and splitting after 13 days develops conjoined fetuses. To the authors' knowledge, this is the first reported case of monoamniotic twin abortion in dromedary camels. This report will increase awareness among practicing veterinarians and camel breeders about twin abortions.
Case report: Whole-exome sequencing for a hereditary elliptocytosis case with an unexpectedly low HbA1c
Authors: Lu Pang, Ziyi Zeng, Yadi Ding, Haiming Huang, Haixia Li
Journal: Front Med (Lausanne) (2023)
Keywords: sptb gene, case report, glycosylated hemoglobin, hereditary elliptocytosis, whole-exome sequencing
MeSH terms: Case Reports

Objectives:
Hereditary elliptocytosis is a group of erythroid hereditary diseases characterized by elliptically shaped erythrocytes in peripheral blood. It is mainly inherited through autosomal dominant inheritance. This study aimed to conduct a genetic etiology analysis in a case with a clinical diagnosis of hereditary elliptocytosis and an unexpectedly low HbA1c.
Methods:
Whole-exome sequencing was performed to find the possible pathogenic mutations. At the same time, bioinformatics software was used to predict the mutation function. Sanger sequencing was performed to verify the suspected pathogenic mutations.
Results:
Whole-exome sequencing results showed that the proband with mild anemia had a heterozygous c.2303G>A (p.G768D) missense mutation in the 13th exon of the SPTB gene. The Sanger sequencing confirmed this heterozygous mutation. This mutation was extremely rare in the population, and multiple software's predictions were harmful. Conservative analysis revealed that this site was highly conserved in various species.
Conclusion:
The c.2303G>A mutation of the SPTB gene is the suspected cause of hereditary elliptocytosis in the patient. Our data show that microscopic examination of red blood cells on blood smears is an important means of diagnosing hereditary elliptocytosis. Whole-exome sequencing is an effective tool to determine the genetic etiology of erythrocyte membrane diseases, which can promote accurate diagnosis and genetic counseling.
A missed case of intraductal oncocytic papillary neoplasm associated with missed stones in extrahepatic bile duct: a case report
Authors: Cong Xie, Hang Zhang, Yushan Meng, Bin Cao
Journal: Front Oncol (2024)
Keywords: carcinoma of the bile duct, choledochoscopy, gallstones, intraductal oncocytic papillary neoplasm of the bile duct, missed diagnosis
MeSH terms: Case Reports

The pathological features of intraductal oncocytic papillary neoplasm (IOPN) of the bile duct include tumor cells that are rich in eosinophilic cytoplasm and arranged in papillary structures. Herein, we report a missed case of IOPN of the bile duct because of concomitant gallstones. A 70-year-old woman was hospitalized with upper abdominal discomfort. The primary diagnosis was choledocholithiasis following imaging examination. However, an unidentified mass was detected after the gallstones were removed. The mass appeared as many papillary protuberances surrounded by fish-egg-like mucosa when viewed by the choledochoscope and was confirmed as IOPN by pathological examination. The patient underwent choledochectomy and no recurrence was observed at the 6-month follow-up examination. In this report, peroral choledochoscopy demonstrated its advantages for the diagnosis of biliary diseases and acquisition of tissue specimens. Therefore, it may solve the challenge related to the lack of preoperative pathological evidence for bile duct tumors.
Near-fatal cocaine intoxication in an infant with thrombotic microangiopathy associated with multiple organ failure
Authors: Alejandro Donoso Fuentes, Gianfranco Tomarelli Rubio, Camila Ampuero Acuña, Franco Díaz Rubio, Fernando Bracho Milic, Pamela Carrasco Troncoso
Journal: Rev Paul Pediatr (2023)
MeSH terms: Brain Diseases, Cocaine / toxicity, Thrombotic Microangiopathies / chemically induced, Case Reports, Child, Female, Health Status, Humans, Infant, Multiple Organ Failure / chemically induced, Young Adult, Cocaine

Objective:
To report a pediatric case of drug-induced thrombotic microangiopathy caused by cocaine.
Case description:
We report a nine-month-old patient who developed thrombotic microangiopathies after extreme cocaine intoxication, multiple organ dysfunction syndrome with hemodynamic dysfunction, anuric renal failure, liver failure, encephalopathy, and myocardial injury, corresponding phenotypically to thrombocytopenia-associated multiple organ failure. The patient received continuous venous hemofiltration and therapeutic plasma exchange, recovering satisfactorily. She was discharged after 30 days of hospitalization under the guidance of the childcare service, and was healthy after one year of follow-up. Toxicological samples confirmed high levels of cocaine and derivatives in blood, urine and hair.
Comments:
To our knowledge, this is the first reported pediatric case. There are particularities of cocaine intoxication pathophysiology that can trigger thrombotic microangiopathies because of vasoconstriction, direct endothelial injury, platelet activation, and increasing von Willebrand factor and fibrinogen levels. All of which results in a prothrombotic state, inflammatory dysregulation, and microvascular thrombi. The increasing use of cocaine, especially among young adults, puts children at high risk of toxicity, either by passive unintentional exposure, or abuse due to the increased availability in homes.
Longitudinal Extensive Transverse Myelitis due to Varicella-Zoster Virus Infection in an Undiagnosed HIV-Positive Patient
Authors: Elahe Yaghmaei, Ahmad Najafi, Reza Daneshvar Kakhki
Journal: Case Rep Neurol Med (2024)
MeSH terms: Case Reports

Introduction:
Longitudinal extensive transverse myelitis (LETM) has four main causes: inflammatory, malnutrition, vascular, and infectious causes. Among the commonly described viral causes leading to LETM are the Herpesviridae family, HIV, and HTLV-1. Case Presentation. A 43-year-old man presented with asymmetric weakness of the lower limbs (the left side was weaker), urinary retention, and flank pain. The symptoms began five days after shingle eruption and progressed over twelve days. He was diagnosed with longitudinal extensive transvers myelitis extending from T4 to T6, which corresponded to the same dermatome involved in shingles. The PCR result of cerebrospinal fluid was positive for varicella-zoster virus with a viral load of 500 copies/ml. Additionally, the initial HIV enzyme-linked immunosorbent assay (ELISA) test was positive, and his CD4 count was 72 cells/mm3. Other lab results were normal. Based on the appearance of LETM in the thoracic MRI at T4-T6, VZV myelitis was diagnosed, and treatment was initiated with acyclovir (30 mg/kg divided daily for twenty-one days), methylprednisolone (1 g/day for three days), prophylactic antibiotics (trimethoprim/sulfamethoxazole, rifampin, and isoniazid), and antiretroviral therapy (dolutegravir and Truvada). After 2-month follow-up, he was nearly free of symptoms.
Conclusion:
Infection is one of the critical causes of transverse myelitis. When a patient presents with skin shingles along with myelopathy, varicella-zoster myelitis should be considered, and the patient should be evaluated in terms of immune system dysfunction. Treatment with acyclovir has been shown to be effective in reducing clinical symptoms in such cases.