OpenMed/multicare-articles huggingface dataset:
Zinc Monotherapy as an Alternative Treatment Option for Decompensated Liver Disease due to Wilson Disease?
Authors: Hansa Haftu, Mohammed Mustefa, Teklu Gebrehiwot
Journal: Case Reports Hepatol (2020)
MeSH terms: Case Reports

Background:
Wilson disease is a rare metabolic disorder involving copper metabolism, and patients may present with a variable degree of hepatic, neurologic, and psychiatric manifestations. In the case of hepatic presentation, treatment is usually initiated with potentially toxic copper chelators (D-penicillamine or Trenton). Although zinc is of low toxicity and low cost for treatment of Wilson disease, it has been limited to the adjunctive as a single maintenance drug or for asymptomatic patients. The use of zinc monotherapy in patients suffering from a severe liver disease was not well studied. In our case report, we describe a pediatric patient who presented with liver failure and the use of zinc monotherapy in patients with severe hepatic manifestations. Case presentation. A 15-year-old male patient from Ethiopia presented with generalized body swelling (edema and ascites) with yellowish discoloration of his eyes and easy fatigability. He had hyperbilirubinemia, coagulopathy, hypoalbuminemia, and deranged liver enzymes. He had a Keyser-Fleischer ring visible with the naked eye, which was confirmed by slit-lamp examination. He had very low serum ceruloplasmin (<8 mg/L) and high 24-hour urine copper (150 mcg/dl). In accordance with the scoring system proposed by the 8th International Meeting on Wilson Disease and Menkes Disease, a diagnosis of Wilson disease was made. Zinc monotherapy with low copper diet was initiated for decompensated liver disease due to Wilson disease because of the inaccessibility of chelators (D-penicillamine or Trientine). After months of treatment with zinc, the patient experienced normalization of hepatic synthetic function and resolution of hypoalbuminemia and coagulopathy. The patient had also clinically stabilized (ascites, lower extremity swelling, edema, and jaundice were improved. Currently, the patient is on follow-up almost for the last four years in the gastrointestinal clinic.
Conclusion:
Our case shows that zinc has the potential for treatment in improving liver function. Though zinc has its own side effects, it is important and maybe an alternative treatment option in those with limited resources (not able to access chelators). This example hopefully will encourage future investigations and researches on zinc monotherapy for treating symptomatic decompensated hepatic Wilson disease.
Case Report: Ninjin'yoeito May Improve Quality of Life After Hospitalization for Acute Illness in Patients With Frailty
Authors: Masayuki Kashima
Journal: Front Nutr (2021)
Keywords: acute illness, frailty, hospitalization, ninjin'yoeito, quality of life
MeSH terms: Case Reports

Introduction: Frail patients are susceptible to a large number of diseases, and frailty particularly is known to develop after acute illness. No conventional drugs are known to prevent such exacerbation after acute illness. However, traditional Japanese medicine, Kampo, is thought to confer efficacious energy and nutritional supplements and serve to improve malaise after acute illness. Ninjin'yoeito is a representative Kampo medicine for such situation. Cases: We describe three frail patients hospitalized for acute illness who started taking ninjin'yoeito at the time of discharge. Case 1: An 87-year-old man admitted with acute prostatitis complicated by hypertension and chronic obstructive pulmonary disease (COPD). His 36-Item Short Form Health Survey (SF-36) score, which is representative of total quality of life and comprises eight components, showed consistent improvements after 4 and 12 weeks of ninjin'yoeito administration, especially for body pain (BP; scores from 41 to 51 and 100, respectively), social function (SF; 50, 100, 100), and mental health (MH; 75, 75, 90). Case 2: A 65-year-old man admitted with urinary tract infection complicated by primary sclerosing cholangitis and COPD. All SF-36 component scores showed improvement 12 weeks later: physical function (PF; 70-95), role physical (RP; 75-100), BP (72-84), general health (GH; 45-52), vitality (VT; 37.5-75), SF 75-100, role emotional (RE; 75-100), and MH (70-90). Case 3: An 80-year-old man admitted for pneumonia complicated with hypertension. SF-36 score was improved 4 weeks later for RP (68.8-100), BP (52-61), GH (52-72), VT (43.8-62.5), SF (37.5-100), and RE (58.3-91.7). Conclusion: Patients with frailty often have a worsened SF-36 score after discharge following acute illness, but the score may be improved by taking ninjin'yoeito.
Case report Iatrogenic parasitic leiomyoma: the surgeon's invisible hand
Authors: Shahzia Lambat Emery, Nicola Pluchino, Antonella Martino, Fabio Mauri, Patrick Petignat, Jean Dubuisson
Journal: Front Surg (2023)
Keywords: endobag, endometriosis, morcellation, parasitic leiomyoma, surgical leiomyoma treatment
MeSH terms: Case Reports

Uterine leiomyoma is the most common benign tumour of the uterus in women of reproductive age. When removed surgically, a mini-invasive procedure is preferentially used (laparoscopic or robotic) and the extraction of the specimen can be managed by power morcellation. In this consecutive case-series, we present three cases of parasitic leiomyoma that appeared following previous surgical management of leiomyoma using the technique of laparoscopic myomectomy with uncontained power morcellation. The time frame in between the initial surgery and the diagnosis of the parasitic leiomyoma was 5.7 years. All three patients were diagnosed with endometriosis: 2 cases prior to the initial surgery and 1 case after the initial surgery. One hypothesis could be that, due to pelvic inflammation, endometriosis is a risk factor for iatrogenic parasitic leiomyoma development in case of uncontained morcellation of leiomyoma during myomectomy.
Case Report: Paraneoplastic Tumefactive Demyelination Associated With Seminoma
Authors: Wataru Shiraishi, Takeru Umemura, Yuuki Nakayama, Yui Yamada, Masahiro Shijo, Tetsuya Hashimoto
Journal: Front Neurol (2022)
Keywords: covid-19 vaccination, anti-amphiphysin antibody, demyelinating disease, paraneoplastic syndrome, seminoma, stereotactic biopsy, steroid therapy, tumefactive demyelination
MeSH terms: Case Reports

Paraneoplastic tumefactive demyelination (TD) is a rare disorder of the central nervous system that can be challenging to diagnose. Here, we describe a 32-year-old Japanese man with a TD associated with testicular seminoma. He presented with symptoms of right-sided motor and sensory impairment 2 days after vaccination for coronavirus disease 2019 (COVID-19). Brain magnetic resonance imaging (MRI) showed a high-intensity lesion in the left internal capsule. He had a 3-year history of enlargement of the left testicle. Blood examination showed tumor marker elevation and the presence of anti-amphiphysin antibodies. Whole-body computed tomography (CT) revealed mass lesions in the left testicle and enlargement of the retroperitoneal lymph nodes. Radical orchiectomy was performed. As the pathology showed testicular seminoma, chemotherapy was administered. After surgery, his neurological symptoms deteriorated. MRI revealed that the brain lesion had enlarged and progressed to a tumefactive lesion without gadolinium enhancement. The cerebrospinal fluid (CSF) examination was normal without pleocytosis or protein elevation. Steroid pulse therapy was added; however, his symptoms did not improve. A brain stereotactic biopsy was performed and the sample showed demyelinating lesions without malignant cells. As the initial corticosteroid therapy was ineffective, gamma globulin therapy was administered in parallel with chemotherapy, and the clinical symptoms and imaging findings were partially ameliorated. TD seldom appears as a paraneoplastic neurological syndrome. In addition, there are few reports of COVID-19 vaccination-associated demyelinating disease. Clinicians should recognize paraneoplastic TD, and the further accumulation of similar cases is needed.
Successful management of total knee replacement in a high responder hemophilia patient with a history of inhibitor
Authors: Roya Dolatkhah, Mohammad Reza Bazavar, Masoud Poureisa, Iraj Asvadi Kermani, Jalil Vaez Gharamaleki, Zohreh Sanaat, Jamal Eivazi Ziaei, Alireza Nikanfar, Ali Esfahani, Seyed Hadi Chavoshi
Journal: Iran Red Crescent Med J (2013)
Keywords: hemophilia a, hemophilia b, inhibitor, orthopedics
MeSH terms: Case Reports

The development of inhibitors against administered clotting factors may render replacement therapy ineffective for some hemophilia patients. Such patients are therefore at the highest risk of developing arthropathy. Elective orthopedic surgery (EOS) in hemophilic patients having such inhibitors remains a rare, expensive, and difficult surgery, whose management represents a significant challenge. We report the case of a 35-year-old man with a severe form of hemophilia A (factor VIII < 1%), who was suffering from repetitive spontaneous hemarthrosis, especially in his knee joints that had consequently become more susceptible to bleeding. The patient had a history of high levels of factor VIII inhibitor (> 5.0 Bethesda Unit [BU]/ml) as shown by the factor VIII inhibitor assay; therefore, we began treatment with factor VIIa for his mild-to-moderate bleeding (90 µg/kg intravenous bolus injections). The interval between injections varied with the severity of the hemorrhage in each bleeding episode. The inhibitor level reduced to 3.1 BU/ml after three months, to 1.6 BU/ml after six months, and disappeared completely after one year of treatment. We administered factor VIII at a dose of 50 IU/kg every eight hours during the first three post-operative days, then continued administration with a dose of 40 IU/kg every 12 hours for another four days, and observed a very good response to treatment with no bleeding. Recombinant activated factor VII (rFVIIa) is not an inhibitor-removal strategy, but an inhibitor-bypassing product. However, in our patient, the treatment of mild-to-moderate bleeding with short-term use of rFVIIa and no exposure to factor VIII caused a gradual reduction in the inhibitor level over a period of 1 year.
Vessel wall magnetic resonance and arterial spin labelling imaging in the management of presumed inflammatory intracranial arterial vasculopathy
Authors: L A Benjamin, E Lim, M Sokolska, J Markus, T Zaletel, V Aggarwal, R Luder, E Sanchez, K Brown, R Sofat, A Singh, C Houlihan, E Nastouli, N Losseff, D J Werring, M M Brown, J C Mason, R J Simister, H R Jäger
Journal: Brain Commun (2022)
Keywords: asl, cerebral vasculitis, neuroinflammation, stroke, vessel wall mr

Optimal criteria for diagnosing and monitoring response to treatment for infectious and inflammatory medium-large vessel intracranial vasculitis presenting with stroke are lacking. We integrated intracranial vessel wall MRI with arterial spin labelling into our routine clinical stroke pathway to detect presumed inflammatory intracranial arterial vasculopathy, and monitor disease activity, in patients with clinical stroke syndromes. We used predefined standardized radiological criteria to define vessel wall enhancement, and all imaging findings were rated blinded to clinical details. Between 2017 and 2018, stroke or transient ischaemic attack patients were first screened in our vascular radiology meeting and followed up in a dedicated specialist stroke clinic if a diagnosis of medium-large inflammatory intracranial arterial vasculopathy was radiologically confirmed. Treatment was determined and monitored by a multi-disciplinary team. In this case series, 11 patients were managed in this period from the cohort of young stroke presenters (<55 years). The median age was 36 years (interquartile range: 33,50), of which 8 of 11 (73%) were female. Two of 11 (18%) had herpes virus infection confirmed by viral nucleic acid in the cerebrospinal fluid. We showed improvement in cerebral perfusion at 1 year using an arterial spin labelling sequence in patients taking immunosuppressive therapy for >4 weeks compared with those not receiving therapy [6 (100%) versus 2 (40%) P = 0.026]. Our findings demonstrate the potential utility of vessel wall magnetic resonance with arterial spin labelling imaging in detecting and monitoring medium-large inflammatory intracranial arterial vasculopathy activity for patients presenting with stroke symptoms, limiting the need to progress to brain biopsy. Further systematic studies in unselected populations of stroke patients are needed to confirm our findings and establish the prevalence of medium-large artery wall inflammation.
Case report: Long-term clinical benefit of pyrotinib therapy following trastuzumab resistance in HER2-amplification recurrent mucinous ovarian carcinoma
Authors: Xiangming Fang, Haibo Mou, Xinxin Ying, Xuehua Hou, Luo Wang, Ying Wu, Naimeng Yan, Lijie Guo, Qin Liao
Journal: Front Oncol (2022)
Keywords: her2 amplification, mucinous ovarian carcinoma, next-generation sequencing, pyrotinib, trastuzumab
MeSH terms: Case Reports

Advanced or recurrent mucinous carcinoma of the ovary minimally responds to current cytotoxic treatments and has a poor prognosis. Despite multimodal treatment with chemotherapy and surgery, most patients ultimately progress and require palliative systemic therapy. Anti-HER2 therapy has been demonstrated to be an effective strategy for the treatment of HER2-positive breast cancer. However, the role of anti-HER2 therapy in ovarian cancer remains largely unknown. Here, we report the case of a young woman with FIGO Stage IIIc recurrent mucinous ovarian carcinoma (MOC) who developed trastuzumab resistance and disease progression following cross-treatment with trastuzumab combined with pertuzumab. HER2 amplification was discovered using next-generation sequencing (NGS). The patient then received bevacizumab, and pyrotinib (an irreversible HER2 antagonist) plus capecitabine treatment, and achieved a long-term clinical benefit for 22 months. Pyrotinib combined with bevacizumab is a potential treatment for MOC patients who are heavily pretreated and harbor a HER2 amplification. Our case may provide valuable treatment information for patients with advanced or recurrent MOC.
Acute presentation of vasospastic angina induced by oral capecitabine: a case report
Authors: Christos Golias, Georgios Dimitriadis, Dimokritos Dimitriadis, Christos Graidis, Ilias Dimitrelos, Afroditi Tsiakou, Theodosis Bitsis, Konstantinos Charalabopoulos
Journal: J Med Case Rep (2014)

Introduction:
Oral capecitabine is an oral prodrug of 5-fluorouracil that has been integrated into the management of multiple cancer types because of the convenience of administration and its efficacy compared with 5-fluorouracil. Capecitabine mimics the pharmacokinetics of intravenous 5-fluorouracil. While cardiac events associated with the use of 5-fluorouracil are a well-known side effect, capecitabine-induced cardiotoxicity has only been rarely reported.
Case presentation:
We present a case of a 46-year-old woman of Greek ethnicity who presented to our institution with an operated gastric sarcoma who experienced capecitabine-induced vasospastic angina. Primarily a clinical diagnosis of a possible acute coronary syndrome was proposed and the patient was admitted to the hospital for further investigation which was proved between normal limits. After a witnessed episode of angina, her prior history of capecitabine intake and an undertaken further imaging investigation we associated anginal symptoms and signs with vasospastic angina induced by capecitabine 36 hours prior to hospital admission.
Conclusion:
Cardiologists should be aware of the potential cardiac hazards of capecitabine, especially in patients with cardiovascular risk factors. Due to the increasing usage of capecitabine during the last years, patients should be warned for the possibility of chest pain, particularly during the first few days of capecitabine treatment. Specifically, patients developing acute coronary syndrome should not be retreated with capecitabine. On the other hand, due to its promising antitumoral efficacy, its use should not be discouraged.
Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports
Authors: F Sheth, O R Akinde, C Datar, O V Adeteye, J Sheth
Journal: Case Rep Genet (2012)

The Wolf-Hirschhorn syndrome (WHS) is a multiple malformation and contiguous gene syndrome resulting from the deletion encompassing a 4p16.3 region. A microscopically visible terminal deletion on chromosome 4p (4p16→pter) was detected in Case 1 with full blown features of WHS. The second case which had an interstitial microdeletion encompassing WHSC 1 and WHSC 2 genes at 4p16.3 presented with less striking clinical features of WHS and had an apparently "normal" karyotype. The severity of the clinical presentation was as a result of haploinsufficiency and interaction with surrounding genes as well as mutations in modifier genes located outside the WHSCR regions. The study emphasized that an individual with a strong clinical suspicion of chromosomal abnormality and a normal conventional cytogenetic study should be further investigated using molecular cytogenetic techniques such as fluorescence in situ hybridization (FISH) or array-comparative genomic hybridization (a-CGH).
Congenital tuberculosis in a neonate following in vitro fertilization-embryo transfer: A case report
Authors: Guiying Zhuang, Linzhi Yang, Liuhong Qu, Weiqi Liu, Huanjin Zhu
Journal: Front Pediatr (2022)
Keywords: mycobacterium tuberculosis, congenital tuberculosis, in vitro fertilization-embryo transfer, infection, neonate
MeSH terms: Case Reports

Background:
Congenital tuberculosis is becoming increasingly common, but congenital tuberculosis infection in neonates following in vitro fertilization and embryo transfer (IVF-ET) has been rarely reported; a diagnosis of congenital tuberculosis is often delayed due to the non-specificity of maternal IVF treatments and clinical manifestations during pregnancy-particularly in low-birth-weight preterm infants.
Case presentation:
We herein report a case of congenital tuberculosis. The infant was born at 27+5 weeks of gestation and was admitted to the hospital due to hypopnea after birth. Due to a poor response to treatment, we conducted pathogenic microorganism metagenomic analysis to assess the nucleotide sequences within the Mycobacterium tuberculosis complex. After collecting sputum, the strains from the tuberculosis analysis were isolated and confirmed. From a detailed examination of the mother and in accordance with the child's congenital tuberculosis, we confirmed the diagnosis of pelvic tuberculosis.
Conclusion:
IVF treatment and pregnancy can exacerbate latent tuberculosis, especially in women from a family with a history of tuberculosis infections. We posit that the optimal way to prevent neonatal congenital tuberculosis in IVF-ET is to procure a detailed maternal medical or family history and to identify and treat maternal tuberculosis during IVF treatment.
Laparoscopic Repair of Diaphragmatic Rupture: A Case Report with Radiological and Surgical Correlation
Authors: Patrick Nguyen, Bonnie Davis, Daniel D Tran
Journal: Case Rep Surg (2017)
MeSH terms: Case Reports

The leading cause of diaphragmatic rupture is penetrating abdominal trauma, including gunshot- and stab-related wounds; however, diaphragmatic rupture can also result from blunt trauma to the abdomen. The diagnosis can be difficult to make as the physical examination may be unremarkable, and imaging, that is, a conventional chest X-ray and/or CT imaging, may initially fail to reveal the injury. Failure to recognize diaphragmatic rupture can result in a delayed presentation, sometimes years later, with a potential catastrophic outcome. Therefore, prompt and swift diagnosis is critical to avoid this potential harmful scenario. Traditionally, repair is performed through a laparotomy or a thoracotomy incision. Owing to the many advances made in minimally invasive surgery, not only has laparoscopy become the modality of choice to diagnose diaphragmatic rupture due to its high degree of sensitivity and specificity, but it can provide simultaneous therapeutic intervention as well. We report a case of laparoscopic repair of a diaphragmatic rupture in a 22-year-old female who sustained blunt abdominal trauma during a motor vehicle accident.
Primary Alveolar Rhabdomyosarcoma of the Breast in an Adult: An Extremely Rare Case
Authors: Helen J Trihia, Natasa Novkovic, Ioannis Provatas, Anastasios Mavrogiorgis, Evangelos Lianos
Journal: Case Rep Pathol (2019)
MeSH terms: Case Reports

Sarcomas of the breast constitute less than 1% of all malignant breast tumors and primary rhabdomyosarcoma (RMS) is a very rare entity with limited case reports in the literature. RMS is common in children and adolescents and rare in adults. Primary RMS arising from the breast is exceedingly rare in adults. We report a case of a primary RMS of the breast in a 60-year-old woman, who presented in an early stage, mimicking invasive ductal carcinoma clinically and is in complete remission after three years of diagnosis and one year of treatment.
Spinal Anesthesia in Hemodynamic Instability: A Case Report
Authors: Luciana Lopes, Joana Marialva, Helder Cardoso
Journal: Cureus (2023)
Keywords: continuous spinal anesthesia, contraindication, hemodynamic instability, medical dilemma, prophylactic norepinephrine
MeSH terms: Case Reports

Anesthetic dilemmas are not rare in daily practice. Frequently, patients present with comorbid conditions that make general anesthesia risky (e.g., difficult airway and severe pulmonary dysfunction) and contraindications to neuraxial anesthesia at the same time. Reports on the successful anesthetic management of these patients can provide useful information. We report a case of a patient with severe hemodynamic instability who underwent spinal anesthesia for surgical hip debridement. General anesthesia and airway manipulation were avoided because the patient had recently recovered from SARS-CoV-2 pneumonia amid the first wave of the coronavirus disease 2019 (COVID-19) pandemic when very little was known about the disease and no ventilators were available for postoperative care. We explain in detail the continuous spinal anesthesia technique using a conventional epidural catheter and prophylactic norepinephrine when cardiovascular instability was the major concern.