OpenMed/multicare-articles huggingface dataset:
Nephrotoxicity in a Patient With Inadequate Pain Control: Potential Role of Pharmacogenetic Testing for Cytochrome P450 2D6 and Apolipoprotein L1
Authors: Emma M Tillman, Todd C Skaar, Michael T Eadon
Journal: Front Pharmacol (2020)
Keywords: genetic testing, opioid, pharmacogenomic testing, renal insufficiency, substance-related disorders
MeSH terms: Case Reports

A case is presented which demonstrates the perils of opioid inefficacy and how pharmacogenomic testing may have prevented nonsteroidal anti-inflammatory drug (NSAID)-induced nephrotoxicity and progression to chronic kidney disease (CKD). A 62 year-old female with back pain was treated with tramadol and hydrocodone; however, neither proved effective. Consequently, to control her pain, she resorted to cocaine, marijuana, and high dose nonsteroidal anti-inflammatory drugs (NSAIDs). She eventually developed CKD. To identify CKD contributors, she underwent genotyping for Apolipoprotein L1 (APOL1), a known risk factor of CKD, as well as relevant pharmacogenomic genes. Her APOL1 genotype was *G1(GM)/*G1(GM), placing her at increased risk of CKD progression. Her CYP2D6 genotype was *5/*17, consistent with intermediate metabolism, making opioid drugs reliant on CYP2D6 activation, such as tramadol and hydrocodone, relatively ineffective in this patient. Thus, this patient was at genetic risk for CKD and reduced opioid efficacy. We conclude that this genetic combination likely contributed to opioid inefficacy and the eventual progression to CKD.
Metatarsophalangeal Joint Reconstruction Using Talar Osteochondral Allograft following a Failed Dorsal Cheilectomy
Authors: Alexandria J Lichtl, Kelly L Vittetoe, Connie P Friedman, Hardik P Parikh, Christopher S Lee
Journal: Case Rep Orthop (2022)
MeSH terms: Case Reports

Dorsal cheilectomy is often used as a first-line surgical treatment for hallux rigidus; however, revision surgery is needed in nearly 9% of cases. One option for revision surgery is interpositional arthroplasty, which is designed to preserve joint motion and is favorable in young, active populations. This case discusses a young female patient with persistent, painful hallux rigidus and a large osteochondral defect despite prior dorsal cheilectomy. We performed an interpositional arthroplasty of the first metatarsophalangeal joint using an osteochondral allograft from the talus. At three-year follow-up, she had greatly improved function and was able to run without pain. To our knowledge, this is the first documented use of an osteochondral allograft from the talus in conjunction with metatarsophalangeal joint interpositional arthroplasty for treatment of hallux rigidus and a severe osteochondral defect. This technique introduces osseous subchondral scaffolding as well as mature hyaline cartilage into an osteochondral lesion, thereby reestablishing proper joint architecture and congruent articulation and ultimately improving range of motion and reducing pain. We present this technique as an experimental treatment option for restoring both the integrity and function of the metatarsophalangeal joint following trauma, osteochondritis dissecans, or prior operative failure in patients who wish to delay metatarsophalangeal joint fusion.
The "hot cross bun sign" in patients with autoimmune cerebellar ataxia: A case report and literature review
Authors: Mange Liu, Haitao Ren, Nan Lin, Ying Tan, Siyuan Fan, Hongzhi Guan
Journal: Front Neurol (2022)
Keywords: anti-ri antibody, autoimmune cerebellar ataxia, case report, hot cross bun sign, paraneoplastic neurological syndrome (pns)
MeSH terms: Case Reports

Objectives:
The "hot cross bun sign" (HCBs) on magnetic resonance imaging (MRI) has been initially considered specific for multiple system atrophy with cerebellar features. However, a number of other conditions have since been described, which may be associated with this imaging sign. We herein describe a patient with anti-Ri and paraneoplastic cerebellar ataxia, and review the association of the HCBs on imaging with various neurological autoimmune conditions.
Methods:
We report a 40-year-old woman with anti-Ri-associated paraneoplastic neurological syndrome and breast carcinoma, in whom brain MRI revealed the HCBs late in the disease course. We also reviewed similar cases reported in the literature.
Results:
The patient presented with cerebellar ataxia, polyneuropathy, and pyramidal signs. Although brain MRI was initially unremarkable, the HCBs and T2-weighted hyperintensity of the bilateral middle cerebellar peduncles were observed at later follow-up. Anti-Ri was detected in the serum and cerebrospinal fluid. Breast adenocarcinoma was confirmed via an axillary lymph node biopsy. Her symptoms partially resolved after the first corticosteroid pulse. However, subsequent immunotherapy and tumor treatments were ineffective. Four autoimmune cerebellar ataxia cases with the HCBs (two paraneoplastic and two non-paraneoplastic) were identified in the literature.
Discussion:
The HCBs can be associated with paraneoplastic and non-paraneoplastic cerebellar ataxia, which may reflect neurodegeneration secondary to autoimmune injury. Thus, the HCBs should not be considered a contraindication for autoimmune cerebellar syndrome.
Multiple recurrent stent thrombosis in a patient with coexisting clopidogrel resistance and increased anticardiolipin antibodies: a case report
Authors: Erik H Middlebrooks, Mukta Panda
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

The antiphospholipid syndrome (APS) is a common cause of both arterial and venous thrombosis. While studies exist demonstrating the role of APS in coronary artery bypass graft failure, its role in stent thrombosis is less clearly documented. Also, a literature search of PubMed did not reveal any articles regarding the coexistence of clopidogrel resistance and APS despite increasing awareness of resistance to clopidogrel treatment. We present a case of a 59-year-old male having recurrent myocardial infarction after subacute restenosis of multiple drug-eluting stents despite anticoagulant therapy. The patient had in-stent thrombosis of seven drug-eluting stents in a course of eight days. He was subsequently found to have mild elevation of IgG anticardiolipin (aCL) antibody titers and resistance to clopidogrel. Long-term anticoagulation with a combination of low-molecular-weight heparin, clopidogrel, and aspirin has been effective. While the patient's aCL titer level was not elevated above the level required by the current diagnostic criteria for APS, we believe that this patient suffers from the antiphospholipid syndrome. We will discuss some of the controversies surrounding the diagnosis of APS as well as appropriate treatment and recognition of the coexistence of APS and clopidogrel resistance in patients with stent thrombosis.
Acute anterior uveitis after topical interferon for conjunctival intraepithelial neoplasia (CIN)
Authors: Ameay V Naravane, Jacquelyn Weber, Grishma Barucha, Joshua H Hou
Journal: GMS Ophthalmol Cases (2021)
Keywords: 5-fu, cin, ifn alpha-2b, ossn, anterior uveitis
MeSH terms: Case Reports

Objective: Ocular surface squamous neoplasia (OSSN) is the most common type of non-melanocytic ocular surface tumor. Conjunctival intraepithelial neoplasia (CIN) is a type of OSSN that be medically managed by either topical interferon alpha-2b (IFN α-2b), 5-fluorouracil (5-FU), or mitomycin C. While a paradoxical response to IFN α-2b in the HIV population has been reported, we report a case of a paradoxical response in an immunocompetent individual. Methods: A 65-year-old immunocompetent female presents to the clinic with CIN. Results: She is started on topical IFN α-2b, resulting in an unexpected hypopyon, increased corneal epithelial defect, and increased size of the lesion. Switching to topical 5-FU resulted in decreasing size of the CIN lesion and resolution of the epithelial defect. Conclusions: Topical IFN α-2b can produce a paradoxical worsening of CIN lesions in some patients. Providers should be aware of this reaction, as well as the presenting signs and symptoms, to make appropriate treatment changes when treating CIN.
Case report: LAMC3- associated cortical malformations: Case report of a novel stop-gain variant and literature review
Authors: Giovanni Falcicchio, Antonella Riva, Angela La Neve, Michele Iacomino, Patrizia Lastella, Patrizia Suppressa, Vittorio Sciruicchio, Maria Trojano, Pasquale Striano
Journal: Front Genet (2023)
Keywords: lamc3 case report, cortical malformations, epilepsy, exome sequencing, genetic mutations
MeSH terms: Case Reports

Background: Malformations of cortical development (MCDs) can lead to peculiar neuroradiological patterns and clinical presentations (i.e., seizures, cerebral palsy, and intellectual disability) according to the specific genetic pathway of the brain development involved; and yet a certain degree of phenotypic heterogeneity exists even when the same gene is affected. Here we report a man with an malformations of cortical development extending beyond occipital lobes associated with a novel stop-gain variant in LAMC3. Case presentation: The patient is a 28-year-old man suffering from drug-resistant epilepsy and moderate intellectual disability. He underwent a brain magnetic resonance imaging showing polymicrogyria involving occipital and temporal lobes bilaterally. After performing exome sequencing, a novel stop-gain variant in LAMC3 (c.3871C>T; p. Arg1291*) was identified. According to the cortical alteration of the temporal regions, temporal seizures were detected; instead, the patient did not report occipital seizures. Different pharmacological and non-pharmacological interventions (i.e., vagus nerve stimulation) were unsuccessful, even though a partial seizure reduction was obtained after cenobamate administration. Conclusion: Our case report confirms that variants of a gene known to be related to specific clinical and neuroradiological pictures can unexpectedly lead to new phenotypes involving different areas of the brain.
Malignant rhabdoid tumour of the liver in the young adult: report of first two cases
Authors: Ettore Marzano, Emilie Lermite, Cinzia Nobili, Carlos Teyssedou, Philippe Bachellier, Jean-Pierre Arnaud, Patrick Pessaux
Journal: HPB Surg (2009)
MeSH terms: Liver Neoplasms / surgery, Rhabdoid Tumor / surgery, Case Reports, Adolescent, Adult, Diagnostic Imaging, Fatal Outcome, Humans, Liver Neoplasms / diagnosis, Liver Neoplasms / pathology, Male, Rhabdoid Tumor / diagnosis, Rhabdoid Tumor / pathology

Few cases of malignant rhabdoid tumour (MRT) of the liver are reported in literature and always in paediatric patients. We report the first two cases of young adults submitted to hepatic resection for MRT of the liver. A major liver resection was performed in both cases. The histology showed round or fusiform, loosely cohesive cells. The cytoplasm contained abundant eosinophilic inclusions, which caused the nuclei to be located in eccentric locations, giving the characteristic rhabdoid appearance. The immunohistochemical study was performed, and characteristic lack of nuclear INI1 protein expression was found. In a case surgery was associated to chemoradiotherapy. One patient died at 48 months followup for tumour recurrence. The other is still alive at 25 months followup. MRTs are rare tumours of pediatric age with poor prognosis. Hypothetical less malignant behaviour in the young adults could be supposed. Therefore an aggressive surgical and oncological treatment seems justified.
Choroidal detachment with exudative retinal detachment following Ahmed valve implantation in Sturge-Weber syndrome
Authors: Bipul Kumer De Sarker, Ginger Helen, Mohammad Ibn Abdul Malek, Abdullahi Sadiq, Zafrul Hassan, Jahangir Kabir, Sarat Badmus, Iftekhar Sazzad, Mostafizur Rahman, Mallika Mahatma, Abdus Salam
Journal: GMS Ophthalmol Cases (2019)
Keywords: ahmed glaucoma valve, sturge-weber syndrome, choroidal detachment, choroidal hemangioma
MeSH terms: Case Reports

Ahmed glaucoma valve implant appears to be a relatively useful drainage device in eyes with glaucoma secondary to Sturge-Weber syndrome (SWS). However, early postoperative choroidal and exudative retinal detachment may occur from a rapid expansion of the choroidal hemangioma with effusion of fluid into the suprachoroidal and subretinal spaces. We report the case of a ten-year-old boy who had SWS with choroidal haemangioma and secondary glaucoma. He had Ahmed glaucoma valve implantation on account of the secondary glaucoma which had been refractory to both conventional medical and surgical managements. He developed choroidal and exudative retinal detachment postoperatively. However, he responded to conservative treatment and further surgical management was not required. Ahmed glaucoma valve in the treatment of glaucoma secondary to SWS is useful, but the risk of choroidal effusion with exudative retinal detachment is still present. Surgeons should be alert to this likely complication and be prepared for prompt management.
Medullary thyroid carcinoma with micronodular lung metastases: a case report with an emphasis on the imaging findings
Authors: Nina Ventura, Edson Marchiori, Gláucia Zanetti, Antonio Muccillo, Mariana Leite Pereira, Guilherme Abdalla, Pedro Martins, Carolina Lamas Constantino, Rodrigo Canellas, Viviane Brandão, Romulo Varella de Oliveira
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Medullary thyroid carcinoma is a rare malignancy that arises from calcitonin-producing C-cells and frequently metastasizes to lymph nodes in the neck. Distant metastases may involve bone, lung, and liver. The infrequent number of cases limits the clinical nature and ability to optimize diagnostic tools. Here, we present a case of a micronodular radiographic pattern in metastatic medullary thyroid cancer in order to enhance awareness of the disease process. A case discussion and relevant review of the literature are provided.
The use of intravenous Milrinone to treat cerebral vasospasm following traumatic subarachnoid hemorrhage
Authors: Oliver Lasry, Judith Marcoux
Journal: Springerplus (2014)
Keywords: milrinone, post-traumatic vasospasm, subarachnoid hemorrhage, traumatic brain injury, vasospasm

Introduction:
Traumatic subarachnoid hemorrhage (SAH) is a common intracranial lesion after traumatic brain injury (TBI). As in aneurysmal SAH, cerebral vasospasm is a common cause of secondary brain injury and is associated with the thickness of traumatic SAH. Unfortunately, there is limited literature on an effective treatment of this entity. The vasodilatory and inotropic agent, Milrinone, has been shown to be effective in treating vasospasm following aneurysmal SAH. The authors hypothesized that this agent could be useful and safe in treating vasospasm following tSAH.
Case descriptions:
Case reports of 2 TBI cases from a level 1 trauma centre with tSAH and whom developed delayed ischemic neurological deficits (DINDs) are presented. Intravenous Milrinone treatment was provided to each patient following the "Montreal Neurological Hospital Protocol".
Discussion and evaluation:
Both patients had an improvement in their DINDs following the treatment protocol. There were no complications of treatment and the Glasgow Outcome Scores of the patients ranged from 4 to 5.
Conclusion:
This is the first report of the use of intravenous Milrinone to treat cerebral vasospasm following traumatic SAH. This treatment option appeared to be safe and potentially useful at treating post-traumatic vasospasm. Prospective studies are necessary to establish Milrinone's clinical effectiveness in treating this type of cerebral vasospasm.
Change in psychotherapy: a dialogical analysis single-case study of a patient with bulimia nervosa
Authors: Alessandro Salvini, Elena Faccio, Giuseppe Mininni, Diego Romaioli, Sabrina Cipolletta, Gianluca Castelnuovo
Journal: Front Psychol (2012)
Keywords: i-positions, dialogical self, discourse analysis, motivation for change, psychotherapy, relational perspective

Starting from the critical review of various motivational frameworks of change that have been applied to the study of eating disorders, the present paper provides an alternative conceptualization of the change in psychotherapy presenting a single-case study. We analyzed six psychotherapeutic conversations with a bulimic patient and found out narratives "for" and "against" change. We read them in terms of tension between dominance and exchange in I-positions, as described by Hermans. These results indicate that the dialogical analysis of clinical discourse may be a useful method to investigate change from the beginning to the end of therapy.
Favorable Outcome Twenty-Two Months after Delbet Type Ib Capital Femoral Transepiphyseal Fracture and Posterior Column Acetabular Fracture in a Fifteen-Year-Old Male
Authors: Saranya A Sethuraman, Ashlyn S Morse, Javier Z Guzman, Robert Cristofaro, David E Asprinio
Journal: Case Rep Orthop (2022)
MeSH terms: Case Reports

Case:
A fifteen-year-old male patient sustained a posteriorly dislocated right capital femoral Delbet type Ib epiphyseal fracture-separation and a right acetabular posterior column fracture after a low-energy trip and fall. The capital femoral epiphysis was closed reduced and fixed with cannulated screws on an urgent basis. He underwent acetabular osteosynthesis via a Kocher-Langenbeck approach two days thereafter. Twenty-two months after injury, he was weight-bearing on the right lower extremity without radiologic evidence of avascular necrosis or clinical evidence of pain or functional deficit.
Conclusion:
Fracture-separation of the capital femoral epiphysis comprises only 8% of skeletally immature femoral neck fractures in the Delbet and Colonna classification. Prognosis is worse with ipsilateral hip dislocation due to the risk of avascular necrosis from disruption of the medial femoral circumflex artery. Urgent referral to a trauma center and treatment by appropriate specialists enables good long-term results after this uncommon traumatic injury pattern.
Inherited heterozygous Fanconi anemia gene mutations in a therapy-related CMML patient with a rare NUP98-HOXC11 fusion: A case report
Authors: Kefeng Shen, Meilan Zhang, Jiachen Wang, Wei Mu, Jin Wang, Chunyan Wang, Shugang Xing, Zhenya Hong, Min Xiao
Journal: Front Oncol (2022)
Keywords: fanconi anemia gene, nup98-hoxc11 fusion, hereditary cancer predisposition syndromes, ovarian cancer, therapy-related cmml (t-cmml)
MeSH terms: Case Reports

Fanconi anemia (FA) genes play critical roles in the repair of DNA lesions. Non-FA (or underlying FA) patients harboring heterozygous germline FA gene mutations may also face an increased risk of developing bone marrow failure, primary immunodeficiency disease, and hereditary cancer predisposition syndromes. We report a female patient who suffered from ovarian cancer at 50 years of age. During the initial treatment, six cycles of docetaxel and carboplatin (DC) combination chemotherapy were administered followed by two cycles of docetaxel maintenance therapy. Then, she received a routine follow-up every 3 months for the next 3 years, and all the results of the examination and laboratory tests were normal. Unfortunately, at 54 years of age, she developed a secondary cancer of therapy-related (t-) chronic myelomonocytic leukemia (t-CMML). After two courses of a highly intensive induction chemotherapy regimen with DAC (decitabine) and HAA (homoharringtonine, cytarabine), the patient suffered from severe and persistent bone marrow failure (BMF). Targeted next-generation sequencing (NGS) of a panel of 80 genes was performed on her initial bone marrow aspirate sample and identified PTPN11, NRAS, and DNMT3A somatic mutations. In addition, RNA sequencing (RNA-seq) revealed a rare NUP98-HOXC11 fusion. Whole-exome sequencing (WES) verified RAD51C, BRIP1, PALB2, and FANCG heterozygous germline mutations of the FA pathway, which were further confirmed in buccal swab samples by Sanger sequencing. For this patient, we hypothesized that an altered FA pathway resulted in genomic instability, hypersensitivity to DNA-crosslinking agents or cytotoxic chemotherapeutics, and unsuccessful DNA damage repair. Consequently, she developed ovarian cancer and secondary t-CMML and then suffered from BMF and delayed post-chemotherapy bone marrow recovery after several chemotherapy courses. This case highlights the importance of genetic counseling in patients with hematopoietic neoplasms with high clinical suspicion for carrying cancer susceptibility gene mutations, which require timely diagnosis and personalized management.
Atypical Hemolytic Uremic Syndrome Presenting as Acute Heart Failure-A Rare Presentation: Diagnosis Supported by Skin Biopsy
Authors: Asim Kichloo, Savneek Singh Chugh, Sanjeev Gupta, Jay Pandav, Praveen Chander
Journal: J Investig Med High Impact Case Rep (2019)
Keywords: atypical hemolytic uremic syndrome, complement dysregulation, heart failure, microangiopathic hemolytic anemia
MeSH terms: Atypical Hemolytic Uremic Syndrome / diagnosis, Atypical Hemolytic Uremic Syndrome / physiopathology, Heart Failure / etiology, Skin / pathology, Case Reports, Acute Kidney Injury / etiology, Biopsy, Diagnosis, Differential, Humans, Male, Purpura, Thrombotic Thrombocytopenic / etiology, Thrombotic Microangiopathies / etiology, Young Adult

Atypical hemolytic uremic syndrome (aHUS) is a rare disorder of uncontrolled complement activation that manifests classically as anemia, thrombocytopenia, and renal failure, although extrarenal manifestations are observed in 20% of the patient most of which involving central nervous system, with relatively rare involvement of the heart. In this article, we report the case of a 24-year-old male with no history of heart disease presenting with acute systolic heart failure along with microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. Given his presentation of thrombotic microangiopathy (TMA), along with laboratory results significant for low haptoglobin, platelets, hemoglobin, C3, C4, CH50, and normal ADAMTS13 levels, with no diarrhea and negative STEC polymerase chain reaction in stool, aHUS diagnosis was established with strong clinical suspicion, and immediate initiation of treatment was advised. Kidney biopsy to confirm diagnosis of aHUS was inadvisable because of thrombocytopenia, so the skin biopsy of a rash on his arm was done, which came to be consistent with thrombotic microangiopathy. Our case highlights a relatively rare association between aHUS and cardiac involvement, and the use of skin biopsy to support diagnosis of aHUS in patients who cannot undergo renal biopsy because of thrombocytopenia.