OpenMed/multicare-articles huggingface dataset:
Small Cell Lung Cancer Transformation as a Resistance Mechanism to Osimertinib in Epidermal Growth Factor Receptor-Mutated Lung Adenocarcinoma: Case Report and Literature Review
Authors: Alessandro Leonetti, Roberta Minari, Giulia Mazzaschi, Letizia Gnetti, Silvia La Monica, Roberta Alfieri, Nicoletta Campanini, Michela Verzè, Andrea Olivani, Luigi Ventura, Marcello Tiseo
Journal: Front Oncol (2021)
Keywords: egfr, nsclc, sclc transformation, osimertinib resistance, phenotype switch
MeSH terms: Case Reports

Introduction: Small cell lung cancer (SCLC) transformation represents a mechanism of resistance to osimertinib in EGFR-mutated lung adenocarcinoma, which dramatically impacts patients' prognosis due to high refractoriness to conventional treatments. Case Description: We present the case of a patient who developed a SCLC phenotypic transformation as resistance mechanism to second-line osimertinib for T790M-positive EGFR-mutated NSCLC. Our patient received platinum-etoposide doublet following SCLC switch and achieved a modest clinical benefit which lasted 4 months. NGS and IHC analyses for p53 and Rb were performed on subsequent liver biopsies, revealing baseline TP53 mutation and complete absence of p53 and Rb expression. Primary cell cultures were established following a liver biopsy at the time of SCLC transformation, and drug sensitivity assays showed meaningful cell growth inhibition when osimertinib was added to platinum-etoposide compared with control (p < 0.05). A review of the current literature regarding SCLC transformation after failure of osimertinib was performed. Conclusions: Based on retrospective data available to date, platinum-etoposide chemotherapy is the preferred treatment choice in the occurrence of SCLC transformation after osimertinib failure. The extension of osimertinib in combination with chemotherapy in the occurrence of SCLC transformation as resistance mechanism to osimertinib is a matter of debate. The combination of osimertinib and platinum-etoposide was effective in inhibiting cell growth in our primary cell cultures. Clinical studies are needed to further explore this combination in the occurrence of SCLC transformation as a resistance mechanism to osimertinib.
Concurrent acute myocardial infarction and acute ischemic stroke: Case reports and literature review
Authors: Cheng-Hong Bao, Chen Zhang, Xiao-Min Wang, Yi-Bin Pan
Journal: Front Cardiovasc Med (2022)
Keywords: acute ischemic stroke, electrocardiogram (ecg), intravenous thrombolysis, myocardial infarction, percutaneous coronary intervention
MeSH terms: Case Reports

Acute myocardial infarction (AMI) and acute ischemic stroke (AIS) are the main causes of disability and mortality worldwide. Although reperfusion therapy is the most effective treatment for the two diseases, it is still a great challenge for treating the two diseases at the same time. Here we share 2 cases: one patient was hospitalized for AMI, developed AIS after receiving percutaneous coronary intervention (PCI), and suffered from cardiac rupture after alteplase thrombolytic therapy. The other patient was admitted for AIS, who had sudden chest pain during the thrombolytic process of alteplase. Considering AMI, emergency PCI was performed, and he was finally discharged.
Occult Cervical Avulsion: A Rare Cause of Intrapartum Vaginal Bleeding
Authors: Charity Hulin, Brennan Lang, Jennifer Stanley, Christina Davidson
Journal: Case Rep Obstet Gynecol (2019)
MeSH terms: Case Reports

Background:
Cervical avulsion, complete or partial, is a rare intrapartum complication that can go unrecognized without proper physician vigilance.
Cases:
Case 1 is a 32-year-old multiparous woman admitted for induction of labor at 37 2/7 weeks for abnormal antenatal testing. Case 2 is a 22-year-old multiparous woman at 29 0/7 with spontaneous preterm labor 10 days after cerclage removal for preterm contractions. Vaginal bleeding and fetal heart rate decelerations complicated each patient's intrapartum course. Annular cervical detachment noted at time of delivery resulted in partial or complete amputation of the cervix. Both women recovered well postpartum.
Conclusion:
This rare phenomenon should be considered in the differential of intrapartum vaginal bleeding to avoid a missed or delayed diagnosis.
The Use of Caffeine Citrate for Respiratory Stimulation in Acquired Central Hypoventilation Syndrome: A Case Series
Authors: Pei Ling Tan, Chuan Poh Lim, Sharon Ong, Geoffrey Sithamparapillai Samuel
Journal: J Crit Care Med (Targu Mures) (2023)
Keywords: acquired central hypoventilation, apnea, caffeine, respiratory stimulation

Introductions:
Caffeine is commonly used as a respiratory stimulant for the treatment of apnea of prematurity in neonates. However, there are no reports to date of caffeine used to improve respiratory drive in adult patients with acquired central hypoventilation syndrome (ACHS).
Presentation of case series:
We report two cases of ACHS who were successfully liberated from mechanical ventilation after caffeine use, without side effects. The first case was a 41-year-old ethnic Chinese male, diagnosed with high-grade astrocytoma in the right hemi-pons, intubated and admitted to the intensive care unit (ICU) in view of central hypercapnia with intermittent apneic episodes. Oral caffeine citrate (1600mg loading followed by 800mg once daily) was initiated. His ventilator support was weaned successfully after 12 days. The second case was a 65-year-old ethnic Indian female, diagnosed with posterior circulation stroke. She underwent posterior fossa decompressive craniectomy and insertion of an extra-ventricular drain. Post-operatively, she was admitted to the ICU and absence of spontaneous breath was observed for 24 hours. Oral caffeine citrate (300mg twice daily) was initiated and she regained spontaneous breath after 2 days of treatment. She was extubated and discharged from the ICU.
Conclusion:
Oral caffeine was an effective respiratory stimulant in the above patients with ACHS. Larger randomized controlled studies are needed to determine its efficacy in the treatment of ACHS in adult patients.
Approach and Treatment of Giant Luminal Unicystic Ameloblastoma
Authors: George Borja de Freitas, Evelyne Pedroza de Andrade, Riedel Frota Sá Nogueira Neves, Stefanny Torres Dos Santos, Daniella Cristina da Costa Araújo, Victor Ângelo Montalli
Journal: Case Rep Dent (2018)
MeSH terms: Case Reports

Unicystic ameloblastoma is an odontogenic tumor that affects mainly young patients and usually involves the posterior region of the mandible. In this article, we report on the case a 12-year-old girl presenting with an 8-month history of facial swelling in her lower right quadrant. Radiographic examination revealed a unilocular radiolucent lesion extending from the body of the mandible through to the angle and ascending ramus. An incisional biopsy was performed, and a diagnosis of luminal unicystic ameloblastoma was made based on clinicopathological features. The lesion was treated in two stages, namely, an initial conservative approach via decompression and subsequent excision. The patient has been followed up for 6 months without clinical and radiographic evidence of recurrence. In conclusion, conservative timely intervention combined with a conservative surgical approach has proven efficacious in the treatment of ameloblastoma in this young patient.
Radical cystectomy and lymphadenectomy to two patients with pelvic kidney: surgical pitfalls and considerations
Authors: I Adamakis, C Pournaras, I Katafigiotis, G Kousournas, E Fragkiadis, I Leotsakos, C Alamanis, D Mitropoulos, C Constantinides
Journal: Case Rep Med (2013)

Our goal is to describe our experience in the difficulties encountered during radical cystectomy for muscle invasive bladder cancer in patients with contemporary pelvic kidney. Two patients with muscle invasive bladder cancer and contemporary pelvic kidney were subjected to radical cystectomy and extended lymphadenectomy with conversion to an ileal pouch. In both cases, lymphadenectomy was the first step after entering the true pelvis. In order to proceed to the cystoprostatectomy, careful dissection of the ectopic renal vessels and proper mobilization of the kidney were performed. In both cases, an ileal pouch was our choice. The pelvic kidney is the most common sight of renal ectopia. The etiology is the aborted ascent of the fetal kidney from its initial position in the pelvis. This is the first case series describing radical cystectomy for muscle invasive urothelial carcinoma of the bladder in patients with a pelvic kidney.
Fungal nasal septum abscess caused by Aspergillus flavus complicating sinonasal surgery
Authors: Youssef Rochdi, Youness Labani, Omar Oulghoul, Mohamed Mehdi El Fakiri, Hassan Nouri, Abdelaziz Raji
Journal: Pan Afr Med J (2020)
Keywords: aspergillus flavus, fungal, endoscopic surgery, nasal septum abscess
MeSH terms: Abscess / diagnosis, Aspergillosis / diagnosis, Aspergillus flavus / isolation & purification, Nasal Septum / microbiology, Case Reports, Abscess / microbiology, Antifungal Agents / administration & dosage, Aspergillosis / microbiology, Diabetes Mellitus, Type 2 / physiopathology, Female, Humans, Middle Aged, Nasal Polyps / microbiology, Nasal Polyps / surgery, Rhinitis / diagnosis, Rhinitis / microbiology, Sinusitis / diagnosis, Sinusitis / microbiology, Antifungal Agents

The fungal nasal septum abscess is a rare localized invasive form of fungal rhinosinusitis. Rare cases have been described in the literature. In this article, we intend to describe a new case of fungal nasal septum abscess caused by Aspergillus flavus in diabetic patient after sinonasal surgery. A 53-year-old woman with a history of uncontrolled type 2 diabetes and asthma developed a nasal septum abscess after a sinonasal endoscopic surgery which was performed for nasal polyposis. Needle aspiration of the abscess was performed and the pus cultures were positive for Aspergillus flavus. The patient was treated with antifungal drugs and surgical drainage of the abscess. A clinical and biological improvement was observed. Her case has been followed up for 18 months, and there hasn't been any recurrence of the infection. The fungal nasal septum abscess should be suspected in patients who do not respond adequately to standard treatment of nasal septum abscess, especially patients with risk factors of fungal rhinosinusitis.
An innovative fixation technique by osteosuture in a young athletic female patient with coracoid process fracture: a case report
Authors: Juliette Fradet, Alexandre Losson, Christopher Koneazny, Tanguy Vendeuvre
Journal: Pan Afr Med J (2021)
Keywords: fracture avulsion, case report, coracoclavicular joint, fracture fixation, shoulder injuries
MeSH terms: Acromioclavicular Joint, Fractures, Bone / surgery, Sports, Case Reports, Coracoid Process, Female, Humans, Ligaments, Articular

Coracoid process fractures are uncommon lesions but are frequently associated with an acromioclavicular dislocation. The aim of this article is to report our experience of an innovative fixation technique by osteosuture in a young athletic female patient presenting a displaced fracture of the coracoid process on the insertion footprint of coracoclavicular ligaments, with no breach of continuity of the lower coracoid cortex. She also had a roockwood type 3 acromioclavicular dislocation. After a deltopectoral approach, the fracture was reduced to the anatomical position and stabilized by a first lacing, using a non-absorbable large caliber thread passing under the mid part of the coracoid process between the 2 coracoclavicular ligaments. A second lacing passing under the coracoid process and through the trapezoid ligament, and a third one through the conoïd ligament. At 6 months, the fracture was consolidated and the constant score was 100/100. This innovative fixation provides good clinical and radiological results in the short and medium term.
The successful treatment of Enterocytozoon bieneusi Microsporidiosis with nitazoxanide in a patient with B-ALL: A Case Report
Authors: Lanlan Zhou, Zebing Guan, Chaolun Chen, Qiuhua Zhu, Shiqiu Qiu, Yanan Liu, Mingjie Li, Wenbin Zeng, Hong Wang, Yanmin Gao, Yuemei Yuan, Hanling Zhang, Guanqiao Ruan, Xueyi Pan
Journal: Front Cell Infect Microbiol (2023)
Keywords: enterocytozoon bieneusi infection, case report, leukemia, metagenomic next-generation sequencing, nitazoxanide
MeSH terms: Enterocytozoon / genetics, Microsporidiosis / drug therapy, Neoplasms, Case Reports, Research Support, Non-U.S. Gov't, Diarrhea, Feces / microbiology, Humans, Male, Middle Aged, Positron Emission Tomography Computed Tomography, nitazoxanide

Introduction:

Enterocytozoon bieneusi (E. bieneusi) Microsporidia can cause opportunistic infections in immunocompromised patients and is also an emerging disease in these individuals. Its clinical manifestations are chronic diarrhea and severe wasting syndrome, these can be extremely debilitating and carry a significant risk of death for immunocompromised patients. Often, microsporidia cannot be confirmed immediately by routine examination and culture. Effective and available treatment options are limited for infections caused by E. bieneusi in humans. Such cases are very rare in Chinese Mainland.
Case presentation:
A 47-year-old male had recurrent, profuse watery diarrhea and abdominal discomfort for more than 7 months, with a fever for 5 days. Two years earlier, he received treatment with a modified BFM-90 protocol for acute B cell lymphoblastic leukemia and is currently in the final stages of maintenance therapy with oral methotrexate and mercaptopurine. The leukemia was assessed as still in remission two months ago. PET/CT showed massive peritoneal fluid accumulation and a high uptake area in the diffused peritoneum (SUVmax 12.57), suggesting tumor invasion or microbial infections. However, broad-spectrum antibacterial therapies were ineffective. Metagenomic sequencing of plasma and peritoneal fluid showed no suggestion of the existence of a tumor but instead showed a high sequence number of DNA and RNA of the Microsporidia. His albendazole treatment failed and subsequent treatment with nitazoxanide successfully resolved the infection.
Conclusion:
This case shows that we should consider the possibility of atypical pathogen infection in patients with hematologic malignancy who repeatedly develop unexplained diarrhea with wasting. mNGS can help rule out malignant neoplasms and diagnose infections. Our results suggest that nitazoxanide effectively treats E. bieneusi microsporidia infections.
Dosing of Antimycotic Treatment in Sepsis-Induced Liver Dysfunction by Functional Liver Testing with LiMAx®
Authors: Carmen Kirchner, Jasmin Sibai, Elke Schwier, Dietrich Henzler, Claas Eickmeyer, Günther Winde, Thomas Köhler
Journal: Case Rep Crit Care (2019)
MeSH terms: Case Reports

Background:
Sepsis-treatment is one of the major challenges in our time. Especially fungal infections play an important role in patient's morbidity and mortality. In patients with septic shock, liver function is often significantly impaired and therefore also hepatic drug metabolism is altered.
Case presentation:
We report about a 56-year-old man suffering from invasive fungal infection with multiorgan failure, after complicated medical history due to symptomatic infrarenal aortic aneurysm. On the first postoperative day, a CT scan was undertaken due to massive back pain showing renal infarction on both sides. As qualitative and quantitative renal function was impaired, hemodialysis was started immediately. Subsequently, the patient developed a compartment syndrome of the left leg and underwent fasciotomy. On admission day 7, the patient presented with hematochezia leading to colonoscopy. During this procedure, an ischemic colitis was observed. As conservative treatment failed, the patient underwent Hartmann's procedure due to progredient ischemia followed by a worsening of the clinical status due to sepsis. The patient suffered from an invasive fungal infection with Candida spp. and Aspergillus spp. Systemic antifungal treatment was initiated. Although azoles are considered first-line treatment in these cases we chose the echinocandin caspofungin for its presumed lower impact on liver function compared to azoles like voriconazole or Amphothericin B. However, caspofungin is also metabolised in the liver and can cause hepatotoxic effects. Therefore we measured metabolic liver function capacity using LiMAx®and adapted the patient's dose of caspofungin to the evaluated liver function capacity to achieve an effective and liver-protective level of the active drug. After complicated medical history with 15 weeks of hospital stay, the patient was discharged in general good condition.
Conclusions:
To our knowledge, this is the first report that relates antimycotic drug dosing to a functional liver test. We provide a new approach for sepsis treatment considering liver function capacity to optimize dosage of hepatically metabolised drugs with potential hepatotoxic effects.
Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene
Authors: Gerarda Cappuccio, Alessandro Rossi, Paolo Fontana, Emma Acampora, Valeria Avolio, Giuseppe Merla, Leopoldo Zelante, Aurelio Secinaro, Generoso Andria, Daniela Melis
Journal: BMC Med Genet (2014)
MeSH terms: Abnormalities, Multiple / genetics, DNA-Binding Proteins / genetics, Face / abnormalities, Hematologic Diseases / genetics, Lung / abnormalities, Mutation, Neoplasm Proteins / genetics, Vestibular Diseases / genetics, Case Reports, Research Support, Non-U.S. Gov't, Cytogenetic Analysis, Exons / genetics, Female, Hematologic Diseases / complications, Humans, Hypoglycemia / complications, Infant, Infant, Newborn, Male, Pregnancy, Sequence Deletion, Vestibular Diseases / complications, DNA-Binding Proteins, KMT2D protein, human, Neoplasm Proteins, Kabuki syndrome

Background:
Kabuki syndrome (KS) is a rare, multiple congenital anomalies/intellectual disability syndrome caused by mutations of MLL2 gene, which codifies for a histone methyltrasferase that regulates the embryogenesis and the tissue development. Left-bronchial isomerism is a rare congenital abnormality that can be defined as the absence of the normal lateralizing features which distinguish right and left-sides in the lungs. To date, this is the first report of left-bronchial isomerism in association with KS.
Case presentation:
A one-month-old Caucasian male patient underwent our attention for microcephaly, dysmorphic features (long palpebral fissures, eyebrows with sparse lateral third, everted lower eyelids, blue sclerae, large dysplastic ears, lower lip pits), persistent fetal fingertip pads, short stature, heart defects (interventricular defect and aortic coarctation), unilateral cryptorchidism, hypotonia and delay in gross motor skills. These features suggested a diagnosis of KS and a molecular analysis confirmed a novel frame-shift mutation in the exon 11 of MLL2 gene. Subsequently, given recurrent respiratory infections with a normal immunological status, he underwent a chest CT scan that showed a left bronchial isomerism.
Conclusion:
We report a patient affected by KS, with a novel MLL2 mutation and an atypical phenotype characterized by left-side bronchial isomerism. Interestingly, genes involved in the heterotaxia/isomerism such as ROCK2 and SHROOM3 are known to interact with MLL2 gene. In order to achieve a correct diagnosis and an appropriate therapy, the presence of pulmonary anatomical variations should be investigated in KS patients with respiratory signs not associated to immunological deficiency. Finally, our findings support the hypothesis that the mutations leading to a complete loss of function of MLL2 gene is often associated with complex visceral malformations.
Cerebellar Hemangioblastomas in a High-risk Pregnancy: A Case Report and Review of Literature
Authors: Xue Wang, Yang Liu, Da-Ping Song
Journal: Curr Med Imaging (2023)
Keywords: cns, cerebellar, ga, case report, hemangioblastoma, high-risk pregnancy
MeSH terms: Cerebellar Neoplasms / diagnostic imaging, Cerebellar Neoplasms / surgery, Hemangioblastoma / diagnostic imaging, Hemangioblastoma / surgery, Review, Case Reports, Research Support, Non-U.S. Gov't, Adult, Cesarean Section, Female, Humans, Pregnancy, Pregnancy, High-Risk

Introduction:
Hemangioblastomas are highly vascular benign tumors that may increase in size during pregnancy. The concurrence of cerebellar hemangioblastoma in high-risk pregnancy is extremely rare and the treatment in this situation can be challenged.
Case:
Here, we report a case of a 30-year-old woman in the 33rd PW who had experienced a severe headache, dizziness, vomiting, and limb weakness. Cesarean section was performed in the 34th PW, followed by neurosurgery under multidisciplinary discussion.
Discussion:
The pathological exam suggested hemangioblastomas. Finally, both the pregnancy and the fetus had a good outcome.
Conclusion:
This case emphasizes that the timing of surgery should be determined according to the neurological symptoms of the pregnancy and the gestational age (GA) and condition of the fetus.
H syndrome treated with Tocilizumab: two case reports and literature review
Authors: Robin Jacquot, Maurine Jouret, Mathieu Gerfaud Valentin, Maël Richard, Yvan Jamilloux, Florent Rousset, Jean-François Emile, Julien Haroche, Lars Steinmüller, Franck Zekre, Alice Phan, Alexandre Belot, Pascal Seve
Journal: Front Immunol (2023)
Keywords: h syndrome, slc29a3, hyperpigmentation, lymphoproliferative syndrome, monogenic autoinflammatory disease, recurrent febrile attacks, tocilizumab
MeSH terms: Contracture, Hearing Loss, Sensorineural, Histiocytosis / diagnosis, Histiocytosis / drug therapy, Histiocytosis / genetics, Review, Case Reports, Adult, Child, Preschool, Female, Fever, Humans, Nucleoside Transport Proteins / genetics, tocilizumab, SLC29A3 protein, human, Nucleoside Transport Proteins, Histiocytosis with joint contractures and sensorineural deafness

H syndrome is a rare autosomal recessive genetic disorder characterized by the following clinical features: cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature, hallux valgus, hyperglycemia, fixed flexion contractures of the toe joints, and the proximal interphalangeal joints. In rare cases, autoinflammatory and lymphoproliferative manifestations have also been reported. This disorder is due to loss-of-function mutations in SLC29A3 gene, which encode the equilibrative nucleoside transporter ENT3. This deficiency leads to abnormal function and proliferation of histiocytes. H syndrome is part of the R-group of histiocytosis. We report two different cases, one was diagnosed in adulthood and the other in childhood. The first case reported is a 37-year-old woman suffering from H syndrome with an autoinflammatory systemic disease that begins in adulthood (fever and diffuse organ's infiltration) and with cutaneous, articular, auditory, and endocrinological manifestations since childhood. The second case reported is a 2-year-old girl with autoinflammatory, endocrine, and cutaneous symptoms (fever, lymphadenopathy, organomegaly, growth delay, and cutaneous hyperpigmentation). Homozygous mutations in SLC29A3 confirmed the diagnosis of H syndrome in both cases. Each patient was treated with Tocilizumab with a significant improvement for lymphoproliferative, autoinflammatory, and cutaneous manifestations. Both cases were reported to show the multiple characteristics of this rare syndrome, which can be diagnosed either in childhood or in adulthood. In addition, an overview of the literature suggested Tocilizumab efficiency.