OpenMed/multicare-articles huggingface dataset:
Case report: Reversible encephalopathy associated with liposomal amphotericin B in a patient with cryptococcal meningitis
Authors: Si Luo, Han Wen, Meihong Zhou, Chengsi Wu, Daojun Hong
Journal: Front Neurol (2022)
Keywords: cryptococcal meningitis, encephalopathy, leukoencephalopathy, liposomal amphotericin b, neurotoxicity
MeSH terms: Case Reports

Liposomal amphotericin B (L-AMB) is an anti-fungus medicine that has fewer side effects than traditional amphotericin B (AMB). Neurotoxicity of L-AMB has rarely been observed, and only one case of leukoencephalopathy during intravenous L-AMB has been reported. Herein, we described a patient with cryptococcal meningitis presenting with late-onset reversible encephalopathy associated with liposomal amphotericin B.
Adjacent Segment Infection after Lumbar Fusion: A Case Report and the Literature Review
Authors: Wenlong Wang, Zheng Liu, Sijun Wu
Journal: Case Rep Orthop (2020)
MeSH terms: Case Reports

Introduction:
Adjacent segment infective spondylodiscitis is a rare type of surgical spinal infection after lumbar fusion with few reports. We report a further case of adjacent segment infection after three-level lumbar fusion managed successfully with anti-infective therapy and revision surgery. Case Description. A clinical case of a 69-year-old female with multilevel lumbar degenerative disease received three-level fusion. The leading preoperative symptoms were relieved after decompression surgery. However, severe back pain recurred and prompted her to be rehospitalized 2 months later. The signal of spondylitis and discitis at the adjacent segment was detected by magnetic resonance imaging (MRI). No bacteria were identified despite blood cultures being taken before antibiotic treatment. After a long-term anti-infective therapy with vancomycin, the patient gained symptom relief and was discharged home. However, the patient complained of severe back pain again after long-term oral antibiotic treatment and was rehospitalized 6 months after surgery. The computed tomography (CT) scan showed obvious bony endplate destruction at the adjacent segment space. The patient received a debridement operation and autologous iliac bone graft. The infective inflammatory markers were controlled, and the infective space achieved fusion finally.
Conclusion:
Adjacent segment space infection is a rare reported complication that occurs after spinal fusion surgery. Conservative antibiotic therapy may not control the infection completely, and disc space debridement and autologous iliac bone graft can achieve ultimate fusion and a satisfactory outcome.
Close Call From a Sweet Twist: A Case of Licorice-Induced Torsades De Pointes
Authors: Victor Molina-Lopez, Andrew Engel-Rodriguez, Jose Escabi-Mendoza
Journal: Cureus (2023)
Keywords: hypokalemia, licorice, other causes of hypokalemia, pseudohyperaldosteronism, qt prolongation, refractory hypokalemia, resistant hypertension, secondary hypertension, supplements, torsades de pointes (tdp)
MeSH terms: Case Reports

Torsades de pointes (TdP) is a life-threatening cardiac arrhythmia that can result from QT interval prolongation, sometimes secondary to medication adverse effects and electrolyte derangements. We present a 95-year-old Hispanic male with advanced chronic kidney disease (CKD) that was evaluated for dizziness and progressive weakness. The diagnosis of severe symptomatic hypokalemia and QT prolongation was made, and the patient was admitted for telemetry monitoring and aggressive intravenous electrolyte replacements. While under observation, the patient experienced syncope due to ventricular tachycardia (VT) with episodes of torsades de pointes. Due to refractory potassium depletion and hypertension, workup for hyperaldosteronism revealed renal potassium wasting, inappropriately normal plasma renin levels, and almost undetectable aldosterone levels. Careful analysis revealed the excessive chronic daily ingestion of licorice-containing candy twists and tea, which may cause pseudohyperaldosteronism. Licorice is a commonly used natural product that is available in many forms. It is sometimes used as a natural supplement and as a sweetener that can be widely found in many food products. Excessive ingestion can lead to apparent mineralocorticoid excess, reduced plasma potassium, sodium retention, hypertension, and metabolic alkalosis. Hypokalemia can be severe in some patients and lead to fatal cardiac arrhythmias such as ventricular tachycardia and torsades de pointes. Careful analysis is essential in cases of refractive hypokalemia and renal potassium wasting, especially in elderly patients with underlying renovascular disease.
Uterine sarcoidosis: a rare extrapulmonary site of sarcoidosis
Authors: Creticus P Marak, Narendrakumar Alappan, Amit Chopra, Olena Dorokhova, Sumita Sinha, Achuta K Guddati
Journal: Case Rep Rheumatol (2013)

Sarcoidosis is a multisystem disease which is most commonly manifested in the pulmonary system. However, extrapulmonary manifestations have also been frequently reported. Isolated occurrence of sarcoidosis in the genital system is rare and poses a diagnostic and therapeutic dilemma. Uterine sarcoidosis can present with cervical erosions, endometrial polypoid lesions, and recurrent serometra. In majority of cases, it is diagnosed by endometrial curettage, but it has also been detected by examination of hysterectomy, polypectomy, and autopsy specimens. Nonnecrotizing granulomas are the characteristic pathologic finding of sarcoidosis. However, many infectious and noninfectious etiologies including certain neoplasms can produce similar granulomatous reactions in the female genital tract. These conditions affect the female genital tract more commonly than sarcoidosis, and therefore it is important to rule out these conditions first before making a diagnosis of sarcoidosis. Treatment of sarcoidosis is different from treating these other conditions and the most commonly used systemic or local corticosteroids can be hazardous if the underlying cause is infection. In this case report, the clinical presentation, histopathology, clinical course, and treatment of a patient with isolated uterine sarcoidosis are described, and a brief literature review of sarcoidosis of the female genital tract is provided.
It Is Not Always Sepsis: Fatal Tachypnea in a Newborn
Authors: Rachel Levene, Elza Pollak-Christian, Ashish Garg, Michael Keenaghan
Journal: Case Rep Pediatr (2018)
MeSH terms: Case Reports

Coarctation of the aorta (CoA) is a congenital cardiac malformation that is well understood. Despite being well characterized, CoA is a commonly missed congenital heart disease (CHD) during the newborn period. We report a full-term nine-day-old male who presented to the pediatric emergency department (ED) with isolated tachypnea. After an initial sepsis workup, subsequent investigations revealed critical CoA. Because the primary workup focused on sepsis, there was a significant delay in prostaglandin E1 (PGE1) initiation. This case illustrates the importance of early CoA recognition and timely initiation of PGE1 in newborns who present with suspected sepsis along with tachypnea.
12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region
Authors: Adrian Mc Cormack, Cynthia Sharpe, Nerine Gregersen, Warwick Smith, Ian Hayes, Alice M George, Donald R Love
Journal: Case Rep Genet (2015)

To date, there have been only a few reports of patients carrying a microdeletion in chromosome 12q14. These patients usually present with pre- and postnatal growth retardation, and developmental delay. Here we report on two additional patients with both genotype and phenotype differences. Similar to previously published cases, one patient has haploinsufficiency of the HMGA2 gene and shows severe short stature and developmental delay. The second patient is only one of a handful without the loss of the HMGA2 gene and shows a much better growth profile, but with absolute macrocephaly. This patient's deletion is unique and hence defines a likely macrocephaly locus that contributes to the general phenotype characterising the 12q14 syndrome.
Imaging in Van Wyk Grumbach syndrome: An uncommon presentation of hypothyroidism
Authors: Poonam Sherwani, Khanak K Nandolia, Kirti Joshi, Radhapyari Lourembam
Journal: SA J Radiol (2023)
Keywords: van wyk grumbach syndrome (vwgs), galactorrhoea, hypothyroidism, isosexual precocious puberty, ovarian mass, per vagina, pituitary, thyroid stimulating hormone (tsh)
MeSH terms: Case Reports

Isosexual precocious puberty with ovarian masses in long-standing juvenile hypothyroidism is well described in the literature as Van Wyk Grumbach syndrome (VWGS). The present case reports this rare entity in a 4-year-old girl who was referred for imaging to evaluate the cause of non-traumatic bleeding per vagina. Antecedent history, clinical features and thyroid function tests were consistent with long-standing juvenile hypothyroidism with documented clinical response to thyroxine replacement therapy.
Contribution:
Typical clinical and radiological features of the syndrome are reported, which helps in the early diagnosis and management, henceforth avoiding the associated complications.
Rare Presentation of Cardiotoxicity Related to 5-Fluorouracil
Authors: Mariam Charkviani, Natia Murvelashvili, Francisco Barrera, Alisha Sharma, Randa Sharag Eldin, Nur Un Nisa Nabil
Journal: Case Rep Oncol Med (2020)
MeSH terms: Case Reports

5-Fluorouracil (5-FU) is a chemotherapeutic agent frequently used for the treatment of solid tumors. In a few cases, 5-FU can be associated with coronary vasospasm, cardiac ischemia, or life-threatening arrhythmias. Recognition of 5-FU cardiotoxicity is clinically important as after the rapid sensation of therapy, cardiotoxicity can be completely reversible, and on the other hand, readministration may lead to serious damage of the heart and even death. A 70-year-old male came to the emergency department (ED) with chest pain which started while receiving an infusion of 5-FU. The patient did not have a personal history or risk factors of coronary artery disease and his electrocardiogram (ECG) before starting chemotherapy was completely normal. In the ED, his ECG had ischemic changes, troponin was elevated, and echocardiogram showed anterior wall hypokinesis. However, emergent coronary angiogram did not reveal any acute coronary occlusion. 5-FU-induced cardiotoxicity was suspected; the patient was admitted to a progressive care unit for close monitoring and infusion of calcium channel blockers was initiated. The patient's symptoms and ECG findings gradually resolved, and two days later on discharge, patient was chest pain free and ECG was normal. This case supports the vasospastic hypothesis of 5-FU cardiac toxicity, describes its clinical course, and emphasizes the importance of better awareness and early recognition of the rare side effect as it may allow physicians to reduce the risk of life-threatening complications.
Shoshin Beriberi and Severe Accidental Hypothermia as Causes of Heart Failure in a 6-Year-Old Child: A Case Report and Brief Review of Literature
Authors: Alfredo Vicinanza, Corinne De Laet, Shancy Rooze, Ariane Willems, Xavier Beretta-Piccoli, Daphné Vens, Cédric Voglet, Caroline Jacquemart, Martial Massin, Dominique Biarent
Journal: Front Pediatr (2019)
Keywords: child, heart failure, malnutrition, refeeding syndrome, severe accidental hypothermia, thiamine deficiency
MeSH terms: Case Reports

Severe accidental hypothermia has been demonstrated to affect ventricular systolic and diastolic functions, and rewarming might be responsible of cardiovascular collapse. Until now, there have been only a few reports on severe accidental hypothermia, none of which involved children. Herein, we describe here a rare case of heart failure in a 6-year-old boy admitted to the emergency unit owing to severe hypothermia and malnutrition. After he was warmed up (core temperature of 27.2°C at admission), he developed cardiac arrest, requiring vasoactive amines administration, and veno-arterial extracorporeal membrane oxygenation. Malnutrition and refeeding syndrome might have caused the thiamine deficiency, commonly known as beriberi, which contributed to heart failure as well. He showed remarkable improvement in heart failure symptoms after thiamine supplementation. High-dose supplementation per os (500 mg/day) after reconstitution of an adequate electrolyte balance enabled the patient to recover completely within 2 weeks, even if a mild diastolic cardiac dysfunction persisted longer. In conclusion, we describe an original pediatric case of heart failure due to overlap of severe accidental hypothermia with rewarming, malnutrition, and refeeding syndrome with thiamine deficiency, which are rare independent causes of cardiac dysfunction. The possibility of beriberi as a cause of heart failure and adequate thiamine supplementation should be considered in all high-risk patients, especially those with malnutrition. Refeeding syndrome requires careful management, including gradual electrolyte imbalance correction and administration of a thiamine loading dose to prevent or correct refeeding-induced thiamine deficiency.
Case Report: Unravelling the Mysterious Lichtenberg Figure Skin Response in a Patient With a High-Voltage Electrical Injury
Authors: Andrew Lindford, Susanna Juteau, Viljar Jaks, Mariliis Klaas, Heli Lagus, Jyrki Vuola, Esko Kankuri
Journal: Front Med (Lausanne) (2021)
Keywords: lichtenberg figures, electrical injury, lactoferrin, skin, tissue response
MeSH terms: Case Reports

We describe a case of Lichtenberg Figures (LFs) following an electrical injury from a high-voltage switchgear in a 47 year-old electrician. LFs, also known as ferning pattern or keraunographic markings, are a pathognomonic skin sign for lightning strike injuries. Their true pathophysiology has remained a mystery and only once before described following an electical injury. The aim was to characterise the tissue response of LFs by performing untargeted non-labelled proteomics and immunohistochemistry on paraffin-embedded sections of skin biopsies taken from the area of LFs at presentation and at 3 months follow-up. Our results demonstrated an increase in dermal T-cells and greatly increased expression of the iron-binding glycoprotein lactoferrin by keratinocytes and lymphocytes. These changes in the LF-affected skin were associated with extravasation of red blood cells from dermal vessels. Our results provide an initial molecular and cellular insight into the tissue response associated with LFs.
Intrafamilial phenotypic variation in spinocerebellar ataxia type 23
Authors: Shunichi Satoh, Yasufumi Kondo, Shinji Ohara, Tomomi Yamaguchi, Katsuya Nakamura, Kunihiro Yoshida
Journal: Cerebellum Ataxias (2020)
Keywords: multiple system atrophy (msa), prodynorphin, spinocerebellar ataxia type 23 (sca23)
MeSH terms: Case Reports

Background:
Spinocerebellar ataxia type 23 (SCA23) is an autosomal dominant cerebellar ataxia caused by pathogenic variants in the prodynorphin gene (PDYN). The frequency of PDYN variants is reportedly very low (~ 0.1%) in several ataxia cohorts screened to date.
Case presentations:
We found five cases of SCA23 in two families (mean age at onset: 37.8 ± 5.5 years; mean age at examination: 64.2 ± 12.3 years) with a novel PDYN variant (c.644G > A:p.R215H). We identified marked heterogeneity in the clinical features in Family 1: the proband showed clinical and neuroimaging features suggestive of multiple system atrophy with predominant parkinsonism (MSA-P). Conversely, the proband's mother with the PDYN p.R215H variant had no subjective symptoms; she had not come to medical attention before our survey, although she showed apparent cerebellar atrophy on brain magnetic resonance imaging (MRI). The other two patients in Family 1 and a patient in Family 2 showed slowly progressive cerebellar ataxia.
Conclusions:
We here report two Japanese families with SCA23, one of which showed considerable phenotypic variation in affected members. Our findings support that SCA23 can phenotypically overlap with MSA.
Cardiac involvement in a patient with B-cell lymphoblastic lymphoma/acute lymphoblastic leukemia and a history of allogeneic hematopoietic stem cell transplantation and CAR T-cell therapy: A case report
Authors: Yigeng Cao, Yadan Liu, Rongli Zhang, Weihua Zhai, Qiaoling Ma, Jialin Wei, Donglin Yang, Aiming Pang, Yi He, Xin Chen, Erlie Jiang, Sizhou Feng, Mingzhe Han
Journal: Front Immunol (2023)
Keywords: b cell acute lymphoblastic leukemia, b cell lymphoblastic lymphoma, allogeneic hematopoietic stem cell transplantation, cardiac involvement, chimeric antigen receptor t cells
MeSH terms: Burkitt Lymphoma, Hematopoietic Stem Cell Transplantation / adverse effects, Pericardial Effusion, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma, Precursor Cell Lymphoblastic Leukemia-Lymphoma / therapy, Case Reports, Adult, Antigens, CD19, Female, Humans, Immunotherapy, Adoptive, T-Lymphocytes, Antigens, CD19

Cardiac involvement in hematological malignancies is uncommon, with only a few cases reported to date, and it often leads to a poor prognosis. Here, we report a case of a 42-year-old woman with a history of allogeneic hematopoietic stem cell transplantation (allo-HSCT) and anti-CD19 chimeric antigen receptor (CAR) T-cell therapy for B-cell lymphoblastic lymphoma/acute lymphoblastic leukemia in whom cardiac mass and myocardial infiltration were detected. Prior to this presentation, massive pericardial effusion had occurred 6 months after CAR T-cell therapy, which was improved via ultrasound-guided pericardiocentesis. We observed elevated cytokine levels and increased copy number of CAR DNA in both pericardial effusion and serum. Upon detecting cardiac mass and myocardial infiltration, the patient was administered tocilizumab (a humanized monoclonal antibody against IL-6 receptor), which controlled the serum cytokine levels, and reduced intensity chemotherapy, including vindesine, cyclophosphamide, and prednisolone. However, the patient finally died of multiple organ failure. To the best of our knowledge, this is the first report on the development of a cardiac mass and occurrence of myocardial infiltration after allo-HSCT and CAR T-cell therapy. This report may provide supporting data for the early diagnosis and immediate treatment of patients with cardiac involvement.
Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China
Authors: Hui-Ming Yan, Zhi-Mei Liu, Bei Cao, Victor Wei Zhang, Yi-Duo He, Zheng-Jun Jia, Hui Xi, Jing Liu, Fang Fang, Hua Wang
Journal: Front Genet (2021)
Keywords: combined oxidative phosphorylation deficiency 23, gtpbp3 gene, hyperalaninemia, hyperlactacidemia, mitochondrial disease

Combined Oxidative Phosphorylation Deficiency 23 (COXPD23) caused by mutations in GTPBP3 gene is a rare mitochondrial disease, and this disorder identified from the Chinese population has not been described thus far. Here, we report a case series of three patients with COXPD23 caused by GTPBP3 mutations, from a severe to a mild phenotype. The main clinical features of these patients include lactic acidosis, myocardial damage, and neurologic symptoms. Whole genome sequencing and targeted panels of candidate human mitochondrial genome revealed that patient 1 was a compound heterozygote with novel mutations c.413C > T (p. A138V) and c.509_510del (p. E170Gfs∗42) in GTPBP3. Patient 2 was a compound heterozygote with novel mutations c.544G > T (p. G182X) and c.785A > C (p.Q262P), while patient 3 was a compound heterozygote with a previously reported mutation c.424G > A (p.E142K) and novel mutation c.785A > C (p.Q262P). In conclusion, we first describe three Chinese individuals with COXPD23, and discuss the genotype-phenotype correlations of GTPBP3 mutations. Our findings provide novel information in the diagnosis and genetic counseling of patients with mitochondrial disease.
Clinical management of finger joint capsulitis/synovitis in a rock climber
Authors: Jared Vagy
Journal: Front Sports Act Living (2023)
Keywords: finger pain, joint capsulitis, joint synovitis, physical therapy, rock climbing

This case study presents a 23-year-old male recreational rock climber, who climbed an average of 3-4 times per week and presented with finger joint capsulitis/synovitis after increasing his climbing intensity and training from moderate to high over 6 months, which led up to injury. During the exam, the diagnosis was ruled in with clinical orthopedic testing. Additional movement analyses revealed improper gripping mechanics contributing to asymmetric finger loading. A comprehensive rehabilitation program was developed based on the concept of a progressive framework that included unloading of the affected tissues, increasing mobility, improving muscle performance, and correcting suboptimal climbing movements. After 6 weeks, the climber's pain 24 h after climbing, which was rated on a visual analog pain scale (VAS), decreased from 5.5/10 to 1.5/10 and 0/10 at the 12-month follow-up. His patient-specific functional scale improved from 0% at the initial evaluation to 43% after 6 weeks and to 98% after 12 months. His sports-specific disabilities of the arm, shoulder, and hand improved from 69% to 34% to 6% during the initial evaluation, 6-week follow-up, and 12-month discharge. He made a full recovery to his previous grade of V8 bouldering. This is the first case study of its kind to provide a rehabilitation framework for the management of finger joint capsulitis/synovitis in a rock climber.
High acceptability of a contraceptive vaginal ring among women in Kigali, Rwanda
Authors: Evelyne Kestelyn, Jennifer Ilo Van Nuil, Marie Michelle Umulisa, Grace Umutoni, Alice Uwingabire, Lambert Mwambarangwe, Mireille Uwineza, Stephen Agaba, Tania Crucitti, Janneke van de Wijgert, Thérèse Delvaux, Ring Plus Study Group
Journal: PLoS One (2018)
MeSH terms: Contraceptive Devices, Female, Randomized Controlled Trial, Research Support, Non-U.S. Gov't, Adult, Contraception Behavior, Developing Countries, Female, Focus Groups, Humans, Interviews as Topic, Patient Acceptance of Health Care / psychology, Rwanda, Surveys and Questionnaires

Background:
Introduction of contraceptive vaginal rings (CVRs) could expand the contraceptive method mix reducing the unmet need for family planning in Rwanda, but data on acceptability of CVRs from low and middle-income countries are lacking.
Methods:
This study explores acceptability of contraceptive vaginal ring (NuvaRing) use in Kigali, Rwanda using a mixed methods approach. We collected quantitative and qualitative data before, during and after conducting a clinical trial, using Case Report Forms, Interviewer Administered Questionnaires, In Depth Interviews and Focus Group Discussions. We analyzed the data using an existing theoretical framework including product attributes, relationship attributes and sexual encounter attributes as well as the contextual environment.
Results:
Our data showed that initial worries reduced over time with actual ring use and ring insertions and removals were described as easy. Most women did not feel the ring during daily activities, appreciated the lack of perceived negative side effects and the increased lubrication. Relationship attributes and sexual encounter attributes such as sexual comfort played a significant role in ring acceptability of the participants and their partners. The contextual environment including Rwandan cultural norms around sexuality positively influenced the acceptance of the NuvaRing. Overall satisfaction was high.
Conclusions:
Acceptability of the Nuvaring was high among study participants and represents a promising option that could contribute to lowering the unmet need for family planning in Rwanda.