OpenMed/multicare-articles huggingface dataset:
A Case of Transient Hypercalcemia Following Fistulization of a Calcified Mitral Annulus
Authors: Kobi Jacob Perl, Michal Julius, Dror Cantrell
Journal: JCEM Case Rep (2024)
Keywords: caseous mitral annular calcification (cmac), hypercalcemia, hyperphosphatemia, liquefaction necrosis, mitral annulus calcification (mac)
MeSH terms: Case Reports

We report a case of severe symptomatic hypercalcemia that resolved after a short course of therapy of exclusively fluids and furosemide. An extensive workup for metabolic, neoplastic, and drug-induced causes did not provide a possible etiology of the hypercalcemia. After calcium level returned to baseline, the patient was discharged, only to return a week later with multiple embolic strokes of unknown source. The comparison of cardiac imaging obtained during the hospitalization periods established a possible mechanism for both phenomena; the interior caseous cavity of a calcified mitral annulus (CMAC), which was demonstrated on echocardiography during the first hospitalization, disappeared in a subsequent study in the second hospitalization, probably reflecting a fistulization of the structure into the left ventricle. The spill of contents into the bloodstream, over several days presumably, explains the transient increase in calcium, and the embolic events that followed. We hereby demonstrate a clear relationship between the fistulization of a CMAC and hypercalcemia, emphasizing the risks of this valvular pathology, and introducing a rare mechanism for transient and potentially severe hypercalcemia.
Case report: A pregnant woman accidental treated with spironolactone in mid-gestation
Authors: Nianying Deng, Jiayi Zhong, Zhengjun Deng, Minling Chen, Liangqi Yan, Haiting Li, Jiawei Han, Enfu Tao
Journal: Front Pharmacol (2024)
Keywords: antiandrogenic effects, feminization, fetal safety, pregnancy, spironolactone
MeSH terms: Case Reports

Spironolactone, a potassium-sparing diuretic, is used to treat hypertension, heart failure, and certain hyperandrogenic disorders. Its use during pregnancy is not recommended due to the risk of feminizing male fetuses, primarily because of its antiandrogenic activity. However, human data remain scarce and largely inconclusive. Here, we present the first case of a 25-year-old pregnant woman, at 16 weeks of gestation, who was inadvertently exposed to spironolactone (240 mg/day) for 1 week due to a pharmacy dispensing error. The patient subsequently delivered a healthy male infant with normal genitalia at 38 weeks of gestation following vaginal delivery. Current follow-up shows that the infant is healthy and developing normally. This article summarizes the potential causes of spironolactone-induced anomalous genital development and explores the safety of new-generation mineralocorticoid receptor antagonists (MRAs) during pregnancy. The mechanisms behind spironolactone-induced anomalous genital development in male fetuses have not been fully elucidated. Spironolactone competes with dihydrotestosterone for binding to androgen receptors and inhibits enzymes involved in androgen biosynthesis, which may partly explain its antiandrogenic effects. Recent advancements in MRAs have led to the development of compounds with higher selectivity for the mineralocorticoid receptor, thereby reducing the incidence of antiandrogen side effects. These new-generation MRAs may be effective alternatives during pregnancy, but more data are needed to establish their safety in pregnant women. This case contributes to the limited but growing body of literature on the safety profile of spironolactone in pregnancy, providing insights into its effects during a critical period of fetal development.
Anal canal duplication with heterotopic gastric mucosa and anal stenosis: first case report and literature review
Authors: Chen Liu, Chuanzhen Xu, Xiaoliang Xu, Yan Zhang, Lei Geng, Yanhui Mei, Hong Ji, Tingliang Fu, Guojian Ding
Journal: Front Pediatr (2024)
Keywords: anal canal duplication, children, gastrointestinal duplication, heterotopic gastric mucosa, mucosectomy, surgery
MeSH terms: Case Reports

Introduction:
Anal canal duplication (ACD) is a rare entity of gastrointestinal duplication that may be asymptomatic or present complications, such as abscess, fistulae, or malignant changes. The diagnosis and rational management of ACD still need to be clarified.
Case presentation:
We present a case of an 18-month-old girl with intractable perianal erosion and painful bowel movements for one year, and chronic constipation for six months. Fistulography revealed a tubular structure (3 cm in length), located posterior to the native anal canal. Mucosectomy was performed through a perineal approach combined with a coccigeal approach, and the postoperative course was uneventful. The pathological findings confirmed the diagnosis of ACD with heterotopic gastric mucosa, a rare combination that has not been described in the literature before. A literature search was conducted on the Medline database for studies reporting ACD in children. The study pool consisted of 77 cases of ACD from 32 studies, including the present case. According to our case report and in line with the literature, 43 cases (55.84%) were incidentally found; the most frequent symptom was constipation (14.29%), followed by painful anal mass or sacral pain (10.39%), and recurrent fistula (7.79%). Coexisting diseases were observed in 31 patients (40.26%), including 19 (24.68%) cases associated with presacral masses. Surgical management was employed in 73 patients (94.81%). ACD excision was performed in 47 patients (64.38%), combined with presacral mass resection or coccygectomy in 19 cases (26.03%).
Conclusion:
Preoperative imaging, including fistulography, ultrasonography, and magnetic resonance imaging, can provide useful information, especially for screening its associated anomalies. To prevent potential complications, surgical removal of ACD and associated anomalies is recommended. Mucosectomy may be one of the most effective surgical options for ACD due to its excellent functional outcome.
Novel SLC18A2 Variant in Infantile Dystonia-Parkinsonism Type 2
Authors: Sakari Kaasalainen, Harri Arikka, Mika H Martikainen, Valtteri Kaasinen
Journal: Case Rep Neurol Med (2024)
MeSH terms: Case Reports

Infantile dystonia-parkinsonism type 2 (PKDYS2) is a rare inherited autosomal recessive movement disorder with onset in infancy. The disease is associated with a mutation in the solute carrier family 18 member A2 gene (SLC18A2). There are reports of trials with dopaminergic drugs and the condition of patients given levodopa almost always worsens and dopamine agonists give varying degrees of benefit to some. Here, we report a PKDYS2 patient with a new variant in the SLC18A2 gene who underwent multiple trials of pharmacotherapy. The abnormalities in development and neurological examination of the case were first noted at the age of 2 months, and after a series of treatment attempts (e.g., with antiepileptics) and diagnostic procedures, the diagnosis of PKDYS2 was determined when whole exome sequencing (WES) at age 6, revealed a homozygous pathologic variant NM_003054.4:c.1107dup, p.(Val370Serfs∗91) in the SLC18A2 gene. The patient then received treatment with multiple dopaminergic drugs (e.g., levodopa, pramipexole, and methylphenidate). The patient with PKDYS2 harbored a new variant in SLC18A2. The phenotype of the patient resembles that of some previously reported patients with PKDYS2. The patient received minor benefits from certain dopaminergic drugs, such as pramipexole, but side effects led to the discontinuation of tested medications.
Parathyroid Hormone-Related Peptide-Producing Gallbladder Cancer Presenting With Humoral Hypercalcemia of Malignancy: A Case Report
Authors: Koji Takahashi, Hiroshi Ohyama, Izumi Ohno, Yuichi Takiguchi, Naoya Kato
Journal: Cureus (2024)
Keywords: cachexia, gallbladder cancer, humoral hypercalcemia of malignancy, hypercalcemia, parathyroid hormone-related protein
MeSH terms: Case Reports

Humoral hypercalcemia of malignancy (HHM) is often reported in cancers derived from the squamous epithelium; however, there are very few reports of HHM in patients with gallbladder cancer. We report a case of a parathyroid hormone-related protein (PTHrP)-producing gallbladder cancer presenting with HHM. A 43-year-old woman presented with appetite loss, nausea, and brown-colored urine. Blood tests revealed that she had hypercalcemia, high serum bilirubin, and high serum parathyroid hormone. Contrast-enhanced computed tomography revealed a gallbladder tumor, liver metastasis, and bile duct obstruction caused by the gallbladder tumor in the hilar region. No bone metastasis was observed. Endoscopic retrograde cholangiopancreatography revealed pancreaticobiliary maljunction. Metal biliary stents were placed, and a transpapillary biopsy of the gallbladder tumor revealed a pathological diagnosis of adenocarcinoma. The patient was diagnosed with HHM due to gallbladder cancer with liver metastasis. Although her hypercalcemia and jaundice improved, her appetite loss and nausea did not improve. Subsequently, the patient developed disseminated intravascular coagulation, and her general condition gradually deteriorated. Due to her poor general condition, chemotherapy could not be administered. The patient died six weeks after visiting our hospital. Although rare, some gallbladder cancers cause HHM due to PTHrP production.
Low serum level and chronic toxicity for methotrexate. Case Report
Authors: Ibtisam Musameh, Faten Al-Bakri, Asmaa Ezzeldin
Journal: Qatar Med J (2023)
Keywords: case reports, leucovorin, methotrexate, overdose, serum level, toxicity

Introduction:
Methotrexate (MTX) is a folic acid antagonist used to treat different immunological or proliferative illnesses because of its anti-proliferative and anti-inflammatory effects. MTX Toxicity is considered a severe problem. Although acute toxicity related to high-dose administration (doses ≥500 mg/m2) can be predicted based on the given dose, chronic toxicity still has no specific factors to predict it, so treatment depends on the history and symptoms of toxicity. MTX was initially used for oncology indications with high cyclic doses, then expanded to non-oncology indications with different low doses and frequencies. This significant change in doses resulted in dosing errors that contributed to MTX toxicity reports. Measures to prevent the toxicity of MTX should be implemented.
Case:
A 66-year-old female patient ingested 10 mg of MTX daily for one month instead of the once-toxicity symptoms. The serum level of MTX was requested, and treatment with folinic acid was initiated until the patient improved with the discontinuation of MTX.
Discussion:
There is limited literature about the lack the total cumulative dose, duration of intake, or serum level of MTX. All this information was provided in this case report, but drug-drug interactions were not reviewed, although aspirin and pantoprazole were identified as having interactions with methotrexate in this patient. Minimum total cumulative dose identification may help assess the toxicity risk in such patients.
Conclusion:
Low-dose MTX chronic toxicity still needs further information to guide the patient's risk of toxicity and when to initiate treatment. Safety-practical measures should be implemented to prevent such administration errors.
Case report: Pathological complete response of pregnancy associated pulmonary enteric adenocarcinoma to chemoradiotherapy
Authors: Yukiko Nemoto, Koji Kuroda, Rintaro Oyama, Masataka Mori, Shohei Shimajiri, Fumihiro Tanaka
Journal: Front Oncol (2024)
Keywords: brain metastasis, case report, chemoradiotherapy, complete pathological response, pregnancy-associated adenocarcinoma, pulmonary enteric adenocarcinoma
MeSH terms: Case Reports

Pulmonary enteric adenocarcinoma (PEAC) is a rare lung adenocarcinoma with morphological features similar to those of primary and metastatic colorectal adenocarcinoma. To date, only a few studies have reported the therapeutic effects of chemoradiotherapy on PEAC. This report describes the case of a 28-year-old woman with pregnancy-related PEAC who presented with left shoulder pain. A superior sulcus tumor was identified in the left thoracic cavity, and the biopsy indicated more than 50% intestinal differentiation components. Moreover, immunohistochemical staining revealed positive CDX2 and CK7 expression. Positron emission tomography-computed tomography, upper endoscopy, colonoscopy, and small intestinal capsule endoscopy revealed no gastrointestinal malignancies. The patient was diagnosed with locally advanced PEAC (clinical stage T4N0M0; stage IIIA). Therefore, the patient was treated with preoperative chemoradiotherapy and underwent gross total resection during surgery. Pathological evaluation of the specimen revealed no residual tumor, indicating that the chemoradiotherapy for PEAC was highly effective. One subsequent brain metastasis was also resected, and the patient has not experienced recurrence in 28 months since this resection and continues to be monitored regularly. This is the first pathologically confirmed report of the use of chemoradiotherapy (carboplatin [CBDCA] and paclitaxel [PTX]) for PEAC and its clinical efficacy. Unlike previous reports, the efficacy of this treatment is attributed to the use of PTX in preoperative chemotherapy and the p21- status of the patient, which may have increased sensitivity to chemoradiation therapy. Therefore, chemoradiotherapy (CBDCA + PTX) may be a viable treatment option for advanced intestinal lung adenocarcinoma.
Improving single nucleotide polymorphisms genotyping accuracy for dihydropyrimidine dehydrogenase testing in pharmacogenetics
Authors: Annalaura Montella, Sueva Cantalupo, Giuseppe D'Alterio, Vincenzo Damiano, Achille Iolascon, Mario Capasso
Journal: Explor Target Antitumor Ther (2024)
Keywords: pharmacogenetics, dihydropyrimidine dehydrogenase, genotyping
MeSH terms: Case Reports

Fluoropyrimidines, crucial in cancer treatment, often cause toxicity concerns even at standard doses. Toxic accumulation of fluoropyrimidine metabolites, culminating in adverse effects, can stem from impaired dihydropyrimidine dehydrogenase (DPYD) enzymatic function. Emerging evidence underscores the role of single nucleotide polymorphisms (SNPs) in DPYD gene, capable of inducing DPYD activity deficiency. Consequently, DPYD genotyping's importance is on the rise in clinical practice before initiating fluoropyrimidine treatment. Although polymerase chain reaction (PCR) followed by Sanger sequencing (SS; PCR-SS) is a prevalent method for DPYD genotyping, it may encounter limitations. In this context, there is reported a case in which a routine PCR-SS approach for genotyping DPYD SNP rs55886062 failed in a proband of African descent. The Clinical Pharmacogenetics Implementation Consortium (CPIC) categorizes the guanine (G) allele of this SNP as non-functional. The enforcement of whole genome sequencing (WGS) approach led to the identification of two adenine (A) insertions near the PCR primers annealing regions in the proband, responsible for a sequence frameshift and a genotyping error for rs55886062. These SNPs (rs145228578, 1-97981199-T-TA and rs141050810, 1-97981622-G-GA) were extremely rare in non-Finnish Europeans (0.05%) but prevalent in African populations (16%). Although limited evidence was available for these SNPs, they were catalogued as benign variants in public databases. Notably, these two SNPs exhibited a high linkage disequilibrium [LD; squared correlation coefficient (R2) = 0.98]. These findings highlighted the importance to consider the prevalence of genetic variants within diverse ethnic populations when designing primers and probes for SNP genotyping in pharmacogenetic testing. This preventive measure is essential to avoid sequence frameshifts or primer misalignments arising from SNP occurrences in the genome, which can compromise PCR-SS and lead to genotyping failures. Furthermore, this case highlights the significance of exploring alternative genotyping approaches, like WGS, when confronted with challenges associated with conventional techniques.
Case Report: Reflection on a case of splenic abscess in a child
Authors: Tao Zhou, Yongfang Liu
Journal: Front Pediatr (2024)
Keywords: aseptic splenic abscess, child, diagnostics, pathogenic, splenic abscess, treatment
MeSH terms: Case Reports

Splenic abscesses (SA), especially in children, are rare in clinical practice. The missed diagnosis rate of SA is high and the probability of rapidly diagnosing it is relatively low due to its low incidence rate and the presence of non-specific clinical symptoms and imaging manifestations. Antibiotics are the primary treatment for SA; however, ultrasound-guided percutaneous puncture suction or drainage, and splenectomy are other effective treatment strategies. In this study, we report one case of SA in a 16-year-old male patient who presented with abdominal pain, fever, and cough, and the therapeutic effect was unsatisfactory (recurrent fever). After admission, the patient was diagnosed with a solitary SA by abdominal CT with contrast and upper abdominal MRI; fever and abdominal pain were relieved and the SA gradually disappeared after antibiotic treatment.
Rothia dentocariosa endocarditis with brain abscess and splenic abscess: case report and brief review
Authors: Xue Zheng, Fang Liu, Qiaoli Ma, Jing Li, Huiping Ma
Journal: Front Cardiovasc Med (2024)
Keywords: rothia dentocariosa, aortic valve replacement, brain abscess, endocarditis, spleen abscess
MeSH terms: Case Reports

Rothia dentocariosa is a conditionally pathogenic bacterium that may cause infective endocarditis (IE) in selected patients and give rise to a variety of clinical complications, albeit it is not a common IE pathogen. We present the case of a patient diagnosed with Rothia dentocariosa-associated IE secondary to influenza B and thrombocytopenic purpura. The blood culture revealed Rochebacterium caries, cardiac ultrasound detected vegetation, while brain and spleen abscesses manifested and progressively deteriorated. Despite a suboptimal response to anti-infective therapy, the patient ultimately underwent aortic valve replacement. Discharge from the hospital was achieved upon control of the brain abscess and spleen abscess.
Stevens-Johnson syndrome/toxic epidermal necrolysis in an orthotopic liver transplant recipient: a case report
Authors: Chun-Sing Huang, Emily Strouphauer, Christine O'Mahony, Nhu T N Galván, Ronald Cotton, John Goss, Abbas Rana
Journal: J Surg Case Rep (2024)
Keywords: stevens–johnson syndrome, adverse drug reactions, liver transplantation, rare diseases
MeSH terms: Case Reports

Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a rare spectrum of acute, mucocutaneous drug reactions characterized by epidermal necrosis of the skin and mucous membranes with progressive multiorgan failure. Cutaneous presentation of SJS/TEN is similar to that of acute graft-versus-host disease, creating a diagnostic dilemma in solid-organ transplant recipients presenting with diffuse, erythematous eruptions, skin sloughing, and systemic sequelae, reflective of both diseases. This case report details a 48-year-old woman post-orthotopic liver transplantation (OLT) who developed a diffuse, painful, morbilliform rash with progressive desquamation, along with corresponding pathological analysis indicative of SJS/TEN. There are few documented reports of SJS/TEN in solid-organ transplant recipients, and this case illustrates successful intervention and resolution of SJS/TEN in an OLT recipient while managing intraabdominal sepsis and an episode of acute rejection. Despite its rarity, prompt diagnosis of SJS/TEN and the implementation of tailored therapeutic strategies are crucial in the care of solid-organ transplant recipients.
Treatment of long COVID complicated by postural orthostatic tachycardia syndrome-Case series research
Authors: Tomoya Tsuchida, Yuki Ishibashi, Yoko Inoue, Kosuke Ishizuka, Kohta Katayama, Masanori Hirose, Yu Nakagama, Yasutoshi Kido, Yoshihiro Akashi, Takehito Otsubo, Takahide Matsuda, Yoshiyuki Ohira
Journal: J Gen Fam Med (2023)
Keywords: long covid, postural orthostatic tachycardia syndrome, β‐blocker

Background:
Coronavirus disease 2019 (COVID-19) sequelae, also known as long COVID, can present with various symptoms. Among these symptoms, autonomic dysregulation, particularly postural orthostatic tachycardia syndrome (POTS), should be evaluated. However, previous studies on the treatment of POTS complicated by COVID-19 are lacking. Therefore, this study aimed to investigate the treatment course of long COVID complicated by POTS.
Methods:
The medical records of patients who complained of fatigue and met the criteria for POTS diagnosis were reviewed. We evaluated the treatment days, methods and changes in fatigue score, changes in heart rate on the Schellong test, and social situation at the first and last visits.
Results:
Thirty-two patients with long COVID complicated by POTS were followed up (16 males; median age: 28 years). The follow-up period was 159 days, and the interval between COVID-19 onset and initial hospital attendance was 97 days. Some patients responded to β-blocker therapy. Many patients had psychiatric symptoms that required psychiatric intervention and selective serotonin reuptake inhibitor prescription. Changes in heart rate, performance status, and employment/education status improved from the first to the last visit. These outcomes were believed to be because of the effects of various treatment interventions and spontaneous improvements.
Conclusions:
Our study suggests that the condition of 94% of patients with POTS complicated by long COVID will improve within 159 days. Therefore, POTS evaluation should be considered when patients with long COVID complain of fatigue, and attention should be paid to psychological symptoms and the social context.
Two Cases of Mycobacterium shinjukuense Pulmonary Disease With a Long-Term Response to Treatment With Clarithromycin, Rifampicin, and Ethambutol
Authors: Takeshi Imakura, Soji Kakiuchi, Hitomi Kagawa, Naoya Murakami, Takashi Haku
Journal: Cureus (2024)
Keywords: clarithromycin, isoniazid, mycobacterium shinjukuense, nontuberculous mycobacteriosis, tuberculosis
MeSH terms: Case Reports

Mycobacterium shinjukuense is a nontuberculous mycobacterium, and standard treatment for the infection has not been established. We report two cases of M. shinjukuense pulmonary disease in which two patients were treated with clarithromycin (CAM), rifampicin (RFP), and ethambutol (EB). Based on computed tomography (CT) findings, the patients experienced improvement with treatment. Reports of multiple cases of M. shinjukuense pulmonary disease treated with clarithromycin, rifampicin, and ethambutol are valuable, and they suggest that this regimen may be a new treatment option.