OpenMed/multicare-articles huggingface dataset:
Renal hypouricemia complicated with kidney stone: a case report
Authors: Yuhao Yang, Xingyu Mu, Zengxiang Wu, Zhenmei An, Shuangqing Li
Journal: Front Med (Lausanne) (2024)
Keywords: slc22a12, asymptomatic kidney stones, mutation, next-generation sequencing, renal hypouricemia
MeSH terms: Case Reports

Renal hypouricemia (RHUC) is a rare autosomal recessive disorder characterized by impaired renal tubular uric acid reabsorption and abnormally high uric acid clearance, which may be manifested by reduced serum uric acid (SUA) levels and elevated fractional excretion of uric acid (FE-UA >10%). Most RHUC patients are often asymptomatic or have accidentally decreased SUA levels during health examinations, while others develop kidney stones and exercise-induced acute kidney injury (EIAKI). We now report a case of RHUC complicated with an asymptomatic kidney stone, and we identified a heterozygous mutation of c.269G > A (p.R90H) and a novel heterozygous mutation of c.674C > G (p.T225R) in the SLC22A12 gene in the patient through whole exon gene detection (NGS method). This case offers valuable insights into the mechanisms, clinical management, and prognosis of RHUC and its associated complications.
Dupilumab-Related Diabetes Mellitus With Reversal of Symptoms in a Non-genetically Predisposed Patient
Authors: Tanner C Blaylock, Daniel Leon
Journal: Cureus (2024)
Keywords: autoimmune disease, autoimmune type 1 diabetes mellitus, dupilumab, immunogenicity, monoclonal antibodies (mabs)
MeSH terms: Case Reports

Dupilumab is a fully humanized monoclonal antibody that binds to IL-4 receptors and blocks IL-4 and IL-13 mediated T-helper 2 (Th2) responses. Dupilumab is estimated to be used by over 600,000 patients worldwide for the treatment of atopic dermatitis and other immunologic conditions. Recently, a 66-year-old male patient being treated for atopic dermatitis with dupilumab presented to the clinic with complaints of polyuria and polydipsia. Upon initial testing, the patient was found to have considerable hyperglycemia. Upon genetic testing, he showed no predisposition for autoimmune diabetes and was negative for type I diabetes mellitus-associated human leukocyte antigen (HLA) genes. After immediate cessation of dupilumab, and with subsequent insulin therapy, the patient was able to obtain glycemic control. Following taper and eventual cessation of insulin therapy and over the course of seven months, the patient was able to achieve a full resolution of symptoms and his glycosylated hemoglobin (HgBA1c) levels returned to normal ranges. This case represents only the second documented case of dupilumab-induced diabetes mellitus and is the first known documented case of dupilumab-induced diabetes mellitus in a non-genetically predisposed individual. This case also describes a previously unobserved spontaneous resolution of symptoms upon cessation of the drug. This case further illustrates the potential existence of immunogenic or immunomodulatory side effects of the monoclonal antibody dupilumab that can affect patients who are both genetically and non-genetically predisposed to autoimmune diabetes mellitus.
Case Report: Complete tomographic resolution of focal choroidal excavation complicated with choroidal neovascularization after anti-VEGF treatment
Authors: Imène Zhioua Braham, Selim Haddar, Mejdi Boukari, Manel Mokrani, Ilhem Mili, Raja Zhioua
Journal: F1000Res (2023)
Keywords: choroidal neovascularization, focal choroidal excavation, optical coherence tomography
MeSH terms: Choroidal Neovascularization / diagnostic imaging, Choroidal Neovascularization / drug therapy, Macular Edema, Case Reports, Adult, Choroid / diagnostic imaging, Choroid / pathology, Female, Humans, Tomography, Optical Coherence / adverse effects, Tomography, Optical Coherence / methods, Vision Disorders / complications, Vision Disorders / pathology

Purpose We report a case of focal choroidal excavation (FCE) that resolved after intravitreal injection of anti-vascular endothelial growth factor (VEGF) for choroidal neovascularization (CNV) and we describe its tomographic features. Case report A 43-year-old female presented with blurred vision and metamorphopsia in her left eye (LE) evolving for 10 years. The best corrected visual acuity (BCVA) was 20/20 in the right eye and 20/32 in the LE. Fundus examination revealed the presence of a yellowish foveal lesion which corresponded to a conforming FCE associated to a pachychoroid on swept-source optical coherence tomography (OCT). The OCT-Angiography showed a foveal flow void in the choriocapillaris layer corresponding to the FCE area. Three years later, the patient complained of visual impairment, more metamorphopsia with a BCVA of 20/80 on her LE. The OCT showed intraretinal fluid with a foveal retinal pigment epithelium (RPE) detachment. The OCT-angiography confirmed the presence of CNV. Two months after one intravitreal bevacizumab injection, the OCT documented the complete resolution of macular edema, the regression of the CNV tissue and the restoration of a normal aspect of the fovea without any FCE. Her BCVA improved to 20/32 with resolution of the metamorphopsia. The OCT aspect remained stable during 3 years of follow-up. Conclusion CNV can develop in FCE and anti-VEGF therapy is a good option treatment. After treatment, FCE pattern can change et may completely resolve.
Angular Pregnancy: A Case Report
Authors: Urvashi R Jainani, Rajendra Shitole, Pojala Ramyapriya, Jyotsna Patil
Journal: Cureus (2024)
Keywords: angular pregnancy, ectopic pregnanacy, hysterectomy, operative hysteroscopy, uterine rupture
MeSH terms: Case Reports

Angular pregnancy, a rare condition, marked by implantation positioned medially to the uterotubal junction within the lateral angle of the endometrial cavity poses a risk of severe complications, such as uterine rupture, placental retention, postpartum hemorrhage, and even necessitating hysterectomy, all of which can be fatal. Distinguishing angular pregnancy from other emergent conditions, particularly interstitial and cornual pregnancies, is crucial due to similar presentations and difference in embryo viability, risk, and management. While angular pregnancies can progress to term, they are associated with an elevated complication rate. Here, we present a case of primigravida with angular pregnancy who opted for evacuation under hysteroscopic guidance subsequent to unsuccessful pregnancy.
Double-dose osimertinib combined with intrathecal injection of pemetrexed improves the efficacy of EGFR-mutant non-small cell lung cancer and leptomeningeal metastasis: case report and literature review
Authors: Wenjuan Zhong, Longqiu Wu, Lixing Huang, Jianfeng Wang, Huaqiu Shi, Shugui Wu
Journal: Front Oncol (2024)
Keywords: intrathecal chemotherapy, leptomeningeal metastasis, non-small cell lung cancer, osimertinib, pemetrexed
MeSH terms: Case Reports

Leptomeningeal metastasis (LM) is a complication of non-small cell lung cancer (NSCLC) characterized by poor prognosis and short survival. A variety of therapeutic approaches have been sought to improve the efficacy of LM. Here we present a clinical case and conduct a literature review to investigate the effectiveness and safety of double-dose osimertinib combined with a pemetrexed intrathecal injection. This is an older man who underwent thoracoscopic pneumonectomy and was diagnosed with stage IIA lung adenocarcinoma with EGFR21 L858R mutation. He experienced thoracic vertebral metastases 33 months postoperatively and received first-line treatment with gefitinib combined with radiotherapy for vertebral metastases. However, the patient developed a grade 3 rash with unacceptable toxicity and his CEA levels were significantly increased 22 months later, leading to a targeted treatment adjustment to 80 mg of osimertinib orally once daily. Four months later, the patient developed LM and osimertinib dosage was increased to 160 mg once daily; however, neurological symptoms did not improve, and cerebrospinal fluid (CSF) tumor cells remained detected. Accordingly, the patient received an intrathecal injection of pemetrexed (dose 30 mg) every 2-3 months, 2-3 times per course (4-6 days each time), and continued to receive a double dose of osimertinib. After three courses of intrathecal chemotherapy, CSF tumor cells were eliminated, and neurological symptoms significantly improved. During the treatment, he experienced a one-degree rash, leukopenia, thrombocytopenia, and fatigue. This patient has been alive and well with disease control for 28 months since the diagnosis of meningeal metastases. Combining double-dose osimertinib and an intrathecal injection of pemetrexed demonstrated therapeutic efficacy and manageable adverse effects in this patient with advanced NSCLC with EGFR-mutant and LM.
A Pediatric Patient with Severe Obstructive Sleep Apnea and Comorbid Depression and Substance Abuse
Authors: Caitlin E Leconte, Joshua W Ng, Ann M Manzardo, Mitchell M Douglass
Journal: Case Rep Psychiatry (2023)
MeSH terms: Case Reports

Obstructive sleep apnea (OSA), depression, and substance abuse problems share similar symptomatology and have significant interplay. An underlying diagnosis of OSA can often be overlooked in patients with significant psychiatric illness and polysubstance use. Pediatric OSA is often associated with adenotonsillar hypertrophy and frequently requires surgical intervention for resolution of symptoms. Untreated OSA can worsen mental status and encourage polysubstance abuse as a form of self-medication. Proper identification and management of OSA plays an important role in treating psychiatric conditions. We report a 16-year-old with major depressive disorder (MDD), suicide attempts, polysubstance use disorder, and severe OSA admitted to an inpatient psychiatric facility. History included sleep and mood disturbances started at age 12. Patient presented with apnea-hypopnea index greater than 50 and started on bilevel-positive airway pressure (BiPAP) prior to admission. Management of OSA led to significant improvement of MDD, insomnia, and polysubstance abuse. OSA can often be overlooked in patients with MDD or substance abuse. Among adolescent patients with poorly managed psychiatric conditions, significant sleep disturbances, and polysubstance abuse, providers should maintain a high degree of suspicion for OSA, as its proper management will aid in the management of the other conditions.
An Unusual Case of Lethal Strongyloides stercoralis-Associated Chronic Fulminant Colitis in an Immunocompetent Patient
Authors: Joseph Do Woong Choi, Rukmini Kulkarni, Aswin Shanmugalingam, Charlotte Kwik, Indy Sandaradura, Jasveen Renthawa, Matthew R Watts, James Wei Tatt Toh
Journal: Case Rep Infect Dis (2024)
MeSH terms: Case Reports

A 70-year-old immunocompetent Lebanese male presented with 3-month history of watery diarrhoea and abdominal pain after recently arriving to Australia from Lebanon. He had a colectomy for an iatrogenic bowel perforation associated with a colonoscopy in Lebanon several months prior. His computed tomography (CT) scan demonstrated pancolitis. Stool culture and polymerase chain reaction (PCR) were positive for Strongyloides stercoralis. Despite Strongyloides treatment and total parenteral nutrition, his pancolitis unexpectedly persisted despite negative stool cultures, and the patient failed to progress over several weeks with worsening abdominal pain. A colectomy was considered. However, due to his recent myocardial infarct requiring cardiac stenting, his anticoagulant and antiplatelets could not be ceased for at least 3 months without significant cardiac risk. After hospitalisation for several weeks in Australia, he was discharged against medical advice and flew back to Lebanon, where he presented with worsening pain and underwent a subtotal colectomy. Unfortunately, he developed multiorgan failure and died 3 weeks following his colectomy. Strongyloides-related pancolitis is a rare condition in immunocompetent adults that has the potential to persist and be lethal, despite microbiological antiparasitic eradication.
A Rare Case of Granulomatosis With Polyangiitis Complicated by Splenic Rupture
Authors: Olfat M Awad, Ibrahim A Srour, Fatima A Mekdad, Samih M Hamadeh, Majdi S Hamadeh
Journal: Cureus (2024)
Keywords: aav, anca, autoimmune, biopsy, glomerulonephritis, renal failure, rpgn, splenic rupture, vasculitis, wegener's granulomatosis
MeSH terms: Case Reports

Granulomatosis with polyangiitis (GPA), formerly known as Wegener's granulomatosis (WG), is a condition marked by necrotizing vasculitis of the small-medium vessels that results in necrotizing granulomatous inflammation. Splenic involvement in GPA is a potentially life-threatening consequence of connective tissue disease and is rarely described as the main presenting feature. We present a case of a patient with perinuclear anti-neutrophil cytoplasmic antibodies (p-ANCA) who experienced spontaneous splenic rupture. A CT scan of the abdomen, an ANCA test, and a splenic biopsy were employed to identify ANCA-associated vasculitis (AAV) splenic rupture. Our patient's splenic rupture could be attributed to GPA. Nonetheless, since it may alter patient follow-up and therapy, a patient with spontaneous splenic rupture without an obvious explanation should be promptly evaluated for connective-tissue disease. This report highlights the intricacy and unpredictability of the clinical symptoms linked to AAV, as well as the possibility of misinterpreting them.
Löfgren Syndrome: A Mosaic of Sarcoidosis Phenotypes
Authors: Francisca Martins, Miguel Martins, Rui Malheiro
Journal: Cureus (2024)
Keywords: acute sarcoidosis, löfgren syndrome, panniculitis, sarcoid arthritis, subcutaneous sarcoidosis
MeSH terms: Case Reports

Sarcoidosis is an autoimmune multisystemic granulomatous disease with an unknown etiology. Löfgren syndrome (LS), an infrequent initial presentation of acute sarcoidosis, is characterized by the classic triad of acute arthritis, erythema nodosum (EN), and bilateral hilar lymphadenopathy (BHL). The presence of this triad offers high diagnostic specificity for sarcoidosis, eliminating the need for a confirmatory biopsy. Typically, LS follows a predictable, self-limiting clinical course. However, atypical presentations require early suspicion and closer monitoring. This case report highlights an unusual clinical manifestation of LS, marked by an incomplete presentation with acute panniculitis and joint lesions in the absence of EN. Acute sarcoidosis should be considered among the differential diagnoses when these clinical manifestations are present, and chest radiography should be performed to rule out BHL. In atypical cases, the disease course becomes less predictable, as exemplified in our case, where recurrence of the disease may occur, necessitating consistent monitoring.
Flea-Borne Typhus Presenting with Acalculous Cholecystitis and Severe Anemia
Authors: Ramya Varadarajan, Ashmi P Patel, Keyvon Rashidi, Albert Oh, Rashmeen Rahman, Ryan Neal
Journal: Case Rep Infect Dis (2023)
MeSH terms: Case Reports

Background:
Flea-borne typhus (FBT), an uncommon illness in the United States, typically presents as a high continuous fever with commonly associated symptoms including headache, myalgias, and rashes on the trunk and extremities. Patients infected with FBT may also present with atypical symptoms. As such, the combination of its relatively low incidence in the United States coupled with its variability in associated symptoms poses a diagnostic challenge for clinicians; early empiric treatment with doxycycline is warranted prior to a definitive diagnosis to reduce the risk of damage to vital organs. Case Report. This case describes a 54-year-old male who presented to an emergency room in Houston, Texas, with one week of constant right upper quadrant abdominal pain and fevers up to 40°C. The patient was initially diagnosed with Grade III severe acute cholangitis after abdominal ultrasound revealed gallbladder sludge and wall thickening without ductal dilatation, but a subsequent endoscopic retrograde cholangiopancreatography was unremarkable. Following intermittent fevers and worsening anemia, the patient was started on oral doxycycline for atypical infection, and an infectious disease workup subsequently returned a positive titer for Rickettsia typhi. He experienced rapid symptomatic and clinical improvement, and the patient was discharged home with a final diagnosis of flea-borne typhus.
Conclusion:
Albeit uncommon, the presentation of this patient's symptoms and final diagnosis of flea-borne typhus demonstrates the importance of (1) keeping atypical infections such as FBT in the differential diagnosis and (2) beginning empiric treatment to prevent damage to vital organs if suspicion of FBT is high.
Case of Accidental Trauma Resulting in Condylar Fractures in 3-Month-Old
Authors: Maggie M Mouzourakis, Sarah S Seo, Resmiye Oral
Journal: Case Rep Dent (2023)
MeSH terms: Case Reports

While mandibular fractures represent the most common craniofacial injury in the pediatric population, craniofacial fractures in infants are rare. Diagnosis is challenging with nonspecific presenting symptoms and often limited radiographic imaging. We report a case of nondisplaced mandibular condylar head fractures in a 3-month-old patient as a result of a fall with impact onto the chin, with associated sublingual hematoma (Coleman's sign). Although the initially observed sole finding of sublingual hematoma raised concern for child physical abuse, detailed history, oral exam, and multidisciplinary review of radiologic records by pediatrics, otolaryngology, and child protection teams established the accidental trauma diagnosis. The patient was managed conservatively with normal resumption of feeding. Detailed history and multidisciplinary approach to the management of pediatric facial trauma are important in establishing diagnoses and management.
Intraoperative Heparin Resistance after Administration of Andexanet Alfa to Manage an Internal Iliac Artery Aneurysm Rupture: A Case Report
Authors: Kanetsugu Nagao, Shigeyuki Yamashita, Rina Ebe, Norihito Naruto, Hisakatsu Ito, Saori Nagura, Toshio Doi, Kazuaki Fukahara, Naoki Yoshimura
Journal: Ann Vasc Dis (2023)
Keywords: andexanet alfa, endovascular aneurysm repair, heparin resistance
MeSH terms: Case Reports

Antithrombotic agents are increasingly prescribed to older adults; however, they are associated with bleeding-related complications. We describe a case of intraoperative heparin resistance after administration of andexanet alfa (AA). An 81-year-old man was diagnosed with a ruptured internal iliac artery aneurysm. The patient required emergency endovascular aneurysm repair and was treated with AA because he was receiving apixaban. Despite high-dose intraoperative heparin administration, his activated coagulation time was not prolonged. Our findings suggest that AA should be administered with caution in patients experiencing potentially fatal bleeding (requiring surgical intervention) who are also receiving direct oral anticoagulants.
Gastric Outlet Obstruction Caused by Complicated Cholelithiasis: Bouveret Syndrome
Authors: Bjorn Valgaeren, Elyn Van Snick, Bart Claikens
Journal: J Belg Soc Radiol (2023)
Keywords: bouveret syndrome, bilioduodenal fistula, computed tomography, gallstone ileus, gastric outlet obstruction, pneumobilia
MeSH terms: Case Reports

Teaching Point: Bouveret syndrome can be diagnosed on plain film, ultrasound, computed tomography and magnetic resonance imaging by demonstrating Rigler's triad which includes a dilated stomach, pneumobilia, and ectopic gallstone.
Germ Cell Neoplasia in Situ Recognized Incidentally with Complaining of Discomfort in the Right Testis: A Case Report
Authors: Keiji Takahashi, Kazuhiko Mizushima, Mai Yamazaki, Naoko Takazawa, Hideyuki Isobe, Miki Asahina, Shu Hirai, Shigeo Horie
Journal: Juntendo Iji Zasshi (2023)
Keywords: germ cell neoplasia in situ, testicular cancer, testis
MeSH terms: Case Reports

A 27-year-old man experienced discomfort in his right testis in early September, 2021, and visited the hospital five days later. Physical examination did not detect any abnormalities in the scrotum. However, an ultrasound revealed a tumor in the central part of the right testis, and a Magnetic Resonance Imaging (MRI) showed a tumor 2.7cm in diameter with clear boundaries and a marginally smooth surface. The level of alpha-fetoprotein, human chorionic gonadotropin, human chorionic gonadotropin-β subunit, and lactate dehydrogenase were within normal limits. A Computed Tomography (CT) scan showed no abnormalities. We can't rule out the possibility of malignancy, right radical orchiectomy was performed with a diagnosis of right testicular tumor in mid-September 2021. The macroscopic lesion was 1.5×1.3 cm in size, and no viable tumorous cells were found pathologically. Atypical cells were observed in the seminiferous tubules from the spermatic cord, which were positively stained with immune-histochemical staining CD117 (c-kit), D2-40, and MIB-1 but negatively with alpha-fetoprotein, human chorionic gonadotropin, and human chorionic gonadotropin-β subunit. The pathological diagnosis was germ cell neoplasia in situ, and no continuity was observed between these cells and bleeding necrosis. The patient has been followed up for 1 year and 4 months after surgery, with no recurrence or metastasis observed.
Case report: Side effects of etomidate in propylene glycol in five Göttingen Minipigs
Authors: Mariafrancesca Petrucci, Simone de Brot, Daniela Casoni
Journal: Front Vet Sci (2024)
Keywords: etomidate, general anesthesia, hemolysis, intubation, laryngeal edema, minipigs, propylene glycol, side effects
MeSH terms: Case Reports

Etomidate, an agonist of the GABA A receptors, is available for clinical use either in combination with 35% propylene glycol or in a lipid emulsion. Its recognized ability to minimally impact the cardiovascular system made etomidate a suitable option for cardiac-compromised patients. Myoclonus and pain at the injection site are recognized side effects of etomidate in propylene glycol, affecting both human and veterinary species. There is no information available concerning potential side effect in minipigs. In the present case series, we report the side effects related to the use of etomidate in 35% propylene glycol in five Ellegaard Göttingen Minipigs that underwent general anesthesia for cardiac magnetic resonance imaging days or weeks after experimentally induced myocardial infarction. Following intravenous injection of etomidate, laryngeal edema and hyperemia were observed in one case. In another case, tachycardia, apnea, and decreased oxygen saturation, accompanied by laryngeal edema and hyperemia, were observed, which resolved spontaneously in a few minutes. In the arterial or venous samples collected shortly after the induction of general anesthesia, hemolysis was macroscopically visible and subsequently confirmed with a hematological exam in all five cases, as well as hemoglobinuria. Necropsies carried out immediately after euthanasia confirmed macroscopic laryngeal edema, marked diffuse lung alveolar and interstitial edema and hyperemia at histology in one animal, and marked acute lung congestion in another animal. These side effects were not observed when etomidate in a lipid emulsion was injected into another 24 animals. The role played by the different formulations (propylene glycol versus lipidic formulation) has not yet been fully elucidated. Based on our observations, we recommend caution in using the formulation of etomidate in 35% propylene glycol in Göttingen Minipigs.