OpenMed/multicare-articles huggingface dataset:
An X-Linked Hyper-IgM Patient Followed Successfully for 23 Years without Hematopoietic Stem Cell Transplantation
Authors: Necil Kutukculer, Neslihan Edeer Karaca, Guzide Aksu, Ayca Aykut, Erhan Pariltay, Ozgur Cogulu
Journal: Case Reports Immunol (2018)
MeSH terms: Case Reports

When caring for patients with life-limiting diseases, improving survival and optimizing quality of life are the primary goals. For patients with X-linked hyper-IgM syndrome (XHIGM), the treatment modality has to be decided for a particular patient regarding hematopoietic stem cell transplantation or intravenous immunoglobulin replacement therapy with P. jiroveci prophylaxis. A seven-year-old male patient was admitted with recurrent upper and lower respiratory tract infections and recurrent otitis media. His initial immunologic evaluation revealed low IgG and normal IgA and IgM levels with normal lymphocyte phenotyping and inadequate specific antibody responses. He was diagnosed as common variable immunodeficiency and began to receive intravenous immunoglobulin (IVIG) (0.5 gm/kg) with four-week intervals. During follow-up for 23 years under IVIG therapy, he was extremely well and never had severe infections. In 2017, targeted next generation sequencing was performed in order to understand his molecular pathology. A previously described hemizygous c.31C>T(p.Arg11Ter) mutation was found in CD40LG gene. The mother was heterozygous carrier for this mutation and his sister did not have any mutation. Flow cytometric analysis for CD40LG expression on activated T cells showed highly decreased, but not absent, CD40LG expression. In conclusion, diagnostic delay is a clinical problem for patients with CD40LG deficiency, because of low or normal IgM levels, showing that all the hypogammaglobulinemic patients, not only with high serum IgM levels, but also with normal to low IgM levels, have to be examined for CD40LG expression on activated T lymphocytes. Secondly, type of CD40LG mutations leads to enormous interpatient variations regarding serum IgM levels, CD40LG levels on activated T cells, age at diagnosis, severity of clinical findings, and follow-up therapies with or without hematopoietic stem cell therapy.
To perform thrombolysis or not: a case of acute pancreatitis presenting with chest pain and transient left bundle branch block
Authors: S Ullah, S Mehmood, H A Chatha, A Mahmood
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

A suspected case of acute coronary syndrome presented with new-onset left bundle branch and first-degree heart blocks. The decision to thrombolyse was reverted as ECG changes proved to be transient within fifteen minutes of presentation. Later on the patient was diagnosed with acute pancreatitis based on laboratory results of serum amylase, confirmed on radiological investigations.
EUS-FNA for the Diagnosis of Retroperitoneal Primitive Neuroectodermal Tumor
Authors: Aijaz A Sofi, Ashish D Thekdi, Ali Nawras
Journal: Diagn Ther Endosc (2011)
MeSH terms: Case Reports

Primitive neuroectodermal tumor (PNET) is a rare "small round blue cell tumor" that is diagnosed by open biopsy or percutaneous biopsy of the lesion under radiologic guidance. In this case report, we present a novel approach to the diagnosis of a retroperitoneal PNET by endoscopic ultrasound- (EUS-) guided fine needle aspiration (FNA). A 35-year-old man presented with the history of left-sided flank pain and swelling of 3-weeks duration. Computerized tomography (CT) scan of his abdomen revealed a 12.8 × 13 × 12.5 cm cystic and solid mass arising from the retroperitoneum and displacing the third and fourth portions of the duodenum. He underwent EUS which revealed a well-circumscribed heterogeneous mass abutting the inferior portion of the stomach. EUS-FNA of the mass revealed malignant cells consistent with primitive neuroectodermal tumor (PNET)/Ewing's sarcoma. EUS-guided FNA is an appropriate technique for diagnosing retroperitoneal PNET/Ewing's sarcoma.
Case Report: Successful liver transplantation after achieving complete clinical remission of advanced HCC with Atezolizumab plus Bevacizumab combination therapy
Authors: Yasmina Chouik, Domitille Erard, Hassan Demian, Thomas Schulz, Tessa Mazard, Kerstin Hartig-Lavie, Teresa Antonini, Jean-Yves Mabrut, Kayvan Mohkam, Agnès Rode, Philippe Merle
Journal: Front Immunol (2023)
Keywords: atezolizumab, bevacizumab, case-report, complete response, hepatocellular carcinoma, immunotherapy, liver transplantation
MeSH terms: Liver Transplantation, Case Reports, Antibodies, Monoclonal, Humanized / therapeutic use, Bevacizumab / therapeutic use, Combined Modality Therapy, Humans, Male, Bevacizumab, atezolizumab, Antibodies, Monoclonal, Humanized

Background:
Atezolizumab plus Bevacizumab combination therapy has recently emerged as the new standard of care for unresectable HCC. Significant tumor burden reduction can be observed under that treatment, raising the question of liver transplantation (LT). The safety of another immune checkpoint inhibitor (ICI), nivolumab, is unclear in the pre-transplant setting.
Method:
We report the case of a 57-y old man, with initial unresectable multinodular HCC contraindicated to LT and locoregional therapies, who achieves complete tumor response after Atezolizumab/Bevacizumab, and subsequently underwent LT for liver failure.
Results:
Explant analysis revealed complete pathological response with no tumor remnant. The patient suffered from several post-operative complications but no HCC recurrence or biopsy-proven acute rejection occurred 10 months after LT.
Conclusions:
Atezolizumab/Bevacizumab therapy may enable complete pathological response of advanced HCC. Safety of prolonged treatment need to be assessed.
Silicone Breast Implant Rupture From Pectoralis Muscle Contraction Causing IgA Nephropathy: A Case Report
Authors: Mahno Noor Ezmas, Abdullah Norlia, Aziz Suraya, Wan Md Hafiz Wan Md Adnan, Lai Meng Looi
Journal: Front Oncol (2022)
Keywords: iga nephropathy, breast, carcinoma, contraction, implant, pectoralis, rupture, silicone
MeSH terms: Case Reports

A 34-year-old woman who was diagnosed with a left breast carcinoma underwent breast conserving surgery and axillary dissection. This was followed with adjuvant breast irradiation and endocrine therapy. She had a local recurrence in the breast 7 years later. She underwent a left nipple sparing mastectomy and submuscular implant reconstruction. The silicone implant ruptured during an episode of strong pectoralis muscle contraction, 5 years postimplantation. MRI confirmed the rupture to be intracapsular and extracapsular. She declined implant replacement. She presented with painless hematuria 2.5 years after the rupture. A renal biopsy confirmed IgA nephropathy.
Evidence of motor system reorganization in complex regional pain syndrome type 1: A case report
Authors: Marie-Philippe Harvey, Samuel Maher-Bussières, Elysa Emery, Marylie Martel, Francis Houde, Yannick Tousignant-Laflamme, Guillaume Léonard
Journal: Can J Pain (2018)
Keywords: complex regional pain syndrome, graded motor imagery, transcranial magnetic stimulation
MeSH terms: Case Reports

Background:
Central nervous system reorganization, particularly in networks devoted to somatosensation, is thought to be a significant feature of complex regional pain syndrome (CRPS).
Aims:
In the present case report, we evaluated the corticomotor system of a woman suffering from CRPS, as she started and completed her rehabilitation, in order to explore whether CRPS could also be linked to changes in motor networks.
Methods:
The patient, a 58-year-old woman, was diagnosed with right-hand CRPS. Transcranial magnetic stimulation measures, reflecting the strength of the corticospinal projections, were evaluated before, during, and after an 8-week graded motor imagery (GMI) program.
Results:
Before treatment, the patient reported significant pain and disability, and the strength of the corticospinal projections of the first dorsal interosseous of the affected hand was reduced compared to the healthy, unaffected hand. Pain and disability decreased as the patient completed the GMI program. These changes were paralleled by an increase in the strength of the corticospinal projections.
Conclusions:
These observations suggest that corticomotor changes can be observed in individuals suffering from CRPS and that some of the clinical manifestations observed in these patients (e.g., pain, disability) could possibly be linked to these neurophysiological changes.
Case Report: Novel SAVI-Causing Variants in STING1 Expand the Clinical Disease Spectrum and Suggest a Refined Model of STING Activation
Authors: Bin Lin, Sofia Torreggiani, Dana Kahle, Dax G Rumsey, Benjamin L Wright, Marco A Montes-Cano, Laura Fernandez Silveira, Sara Alehashemi, Jacob Mitchell, Alexander G Aue, Zheng Ji, Tengchuan Jin, Adriana A de Jesus, Raphaela Goldbach-Mansky
Journal: Front Immunol (2021)
Keywords: savi, sting, autoinflammatory disease, interferonopathy, pediatrics, type i interferon, whole exome sequencing
MeSH terms: Inflammation / genetics, Lung Diseases, Interstitial / genetics, Membrane Proteins / genetics, Mutation, Peripheral Vascular Diseases / genetics, Case Reports, Research Support, N.I.H., Intramural, Adult, Child, DNA Mutational Analysis, Exome Sequencing, Female, Genetic Predisposition to Disease, HEK293 Cells, Humans, Inflammation / diagnosis, Inflammation / metabolism, Inflammation / therapy, Lung Diseases, Interstitial / diagnosis, Lung Diseases, Interstitial / metabolism, Lung Diseases, Interstitial / therapy, Male, Membrane Proteins / metabolism, Middle Aged, Models, Molecular, Peripheral Vascular Diseases / diagnosis, Peripheral Vascular Diseases / metabolism, Peripheral Vascular Diseases / therapy, Phenotype, Protein Conformation, Protein Multimerization, Severity of Illness Index, Structure-Activity Relationship, Young Adult, Membrane Proteins, STING1 protein, human

Gain-of-function mutations in STING1 cause the monogenic interferonopathy, SAVI, which presents with early-onset systemic inflammation, cold-induced vasculopathy and/or interstitial lung disease. We identified 5 patients (3 kindreds) with predominantly peripheral vascular disease who harbor 3 novel STING1 variants, p.H72N, p.F153V, and p.G158A. The latter two were predicted by a previous cryo-EM structure model to cause STING autoactivation. The p.H72N variant in exon 3, however, is the first SAVI-causing variant in the transmembrane linker region. Mutations of p.H72 into either charged residues or hydrophobic residues all led to dramatic loss of cGAMP response, while amino acid changes to residues with polar side chains were able to maintain the wild type status. Structural modeling of these novel mutations suggests a reconciled model of STING activation, which indicates that STING dimers can oligomerize in both open and closed states which would obliviate a high-energy 180° rotation of the ligand-binding head for STING activation, thus refining existing models of STING activation. Quantitative comparison showed that an overall lower autoactivating potential of the disease-causing mutations was associated with less severe lung disease, more severe peripheral vascular disease and the absence of a robust interferon signature in whole blood. Our findings are important in understanding genotype-phenotype correlation, designing targeted STING inhibitors and in dissecting differentially activated pathways downstream of different STING mutations.
Metastatic infiltrating ductal carcinoma of the breast to the colon: a case report and literature review
Authors: Salih Samo, Muhammed Sherid, Husein Husein, Samian Sulaiman, Jeffrey V Brower, Seth Alper, Margaret Yungbluth, John A Vainder
Journal: Case Rep Gastrointest Med (2013)

True metastatic involvement of the colon is rare. Colonic metastases occur most commonly secondary to peritoneal metastases from intra-abdominal malignancies. Breast cancer is the most common malignancy that metastasizes hematogenously to the colon. Colonic metastatic disease mimics primary colonic tumors in its presentation. Colonic metastatic involvement is a poor prognostic sign, and the pathologist should be informed about the history of the primary breast cancer when examining the pathologic specimens. In this paper, we report a case of an ileocecal mass found to be histologically consistent with metastatic ductal breast cancer, and then we review the literature about breast cancer metastases to the gastrointestinal tract in general and colon in particular.
Fractured inferior pubic ramus with ipsilateral total hip replacement: a case report and review of the literature
Authors: Sarkhell Radha, Michael Shenouda, Alexandra Hazlerigg, Sujith Konan, Alison Hulme
Journal: Case Rep Orthop (2013)

Pubic rami fractures are common. They are associated with significant morbidity and mortality. These fractures are usually classified as stable injuries and traditionally receive limited orthopaedic input. Management typically involves hospital admission and early input from physiotherapists and occupational therapists. Early mobilisation is advocated as a central part of managing these patients, with emphasis on secondary prevention. We report a case diagnosed as minimally displaced inferior pubic ramus fracture in a patient with an ipsilateral total hip replacement (THR). The patient was mobilised early and despite analgesia continued to complain of groin pain. Repeat radiographs showed a fracture of the acetabulum with displacement of the acetabular component of the hip replacement. We advocate early orthopaedic input for all pubic rami fractures, particularly in patients with hip arthroplasty, and thorough investigation including a CT scan of the pelvis to exclude acetabular extension prior to mobilisation.
Intracerebral Hemorrhage as the Initial Presentation of Chronic Myeloid Leukemia: A Case Report and Review of the Literature
Authors: Huafeng Wang, Fei Cao, Jianhu Li, Ke Sun, Jie Jin, Ming Wang
Journal: Front Neurol (2020)
Keywords: chronic myeloid leukemia, dasatinib, hyperleukocytosis, intracerebral hemorrhage, intracranial involvement
MeSH terms: Case Reports

Intracerebral hemorrhage (ICH) is an unusual complication in chronic myeloid leukemia (CML). Intracranial involvement, causing ICH as an initial presentation is extremely rare in CML. Herein, we reported the first case of a newly diagnosed CML patient, who presented with headaches accompanied by nausea and vomiting as the initial presentations, caused by ICH. He underwent an emergency craniotomy twice and the postoperative pathologic examination confirmed intracranial CML involvement. Interestingly, his bone marrow and cerebrospinal fluid (CSF) smear and pathological study of the involved brain tissue showed proliferation of granulocytes, which were comprised mainly of metamyelocytes and myelocytes, without any blast within the brain tissue, suggesting the stage of CML was in the chronic phase (CP). He then received dasatinib treatment and achieved complete hematologic remission in the first 3-month follow-up but failed to reach a molecular response in the 6-month follow-up. By reporting this case and reviewing relevant references, we suggested intracranial CML involvement should be considered as a potential pathogenesis of ICH when the patient presents with hyperleukocytosis. A craniotomy is mainly for intracranial decompression and benefits the diagnosis of intracranial CML involvement. Tyrosine kinase inhibitors are effective in such patients to some extent, but more appropriate treatment strategies should be investigated in further detail.
Spontaneous Complete Regression of Colon Cancer Liver Metastases in a Lung Transplant Patient: A Case Report
Authors: Koen Zwart, Dieuwertje Ruigrok, Magda de Graaf-Bos, Roel Goldschmeding, Miriam Koopman, Guus M Bol
Journal: Case Rep Transplant (2023)
MeSH terms: Case Reports

Background:
Cancer has become an important cause of death in solid organ transplant patients. The cause of malignancies in patients with solid organ transplants is multifactorial, but the use of intensive immunosuppression is regarded as an important factor. We describe the spontaneous, complete regression of colon cancer liver metastases, without initiation of antitumor therapy, in a solid organ transplant patient after modulation of immunosuppressants. Case Presentation. A 59-year-old female was admitted with fever, general discomfort, and elevated liver enzymes. She had received a single lung transplant, five years prior, for end-stage chronic obstructive pulmonary disease. Abdominal ultrasound and a computed tomography scan showed extensive liver lesions, and liver biopsy determined that the lesions were liver metastases originating from a colonic adenocarcinoma. Histopathologic analysis revealed that the primary tumor and liver metastases were mismatch repair-deficient (BRAFV600E mutant and MLH1/PMS2-deficient), also known as a microsatellite instable tumor. The patient's clinical condition deteriorated rapidly, and she was discharged home with palliative care. No antitumor treatment was initiated. Additionally, there was a short period without any immunosuppressants. Unexpectedly, her clinical condition improved, and complete regression of liver metastases was observed on imaging two months later. Unfortunately, the patient developed rejection of her lung transplant and succumbed to pulmonary disease six months following her cancer diagnosis. The autopsy confirmed the primary colon tumor location and complete regression of >40 liver metastases.
Conclusions:
Disinhibition and reset of the host immune response could have led to immune destruction of the liver metastases of this patient's immunogenic dMMR colon carcinoma. This case underscores the huge impact that temporary relief from immunosuppressive therapy could have on tumor homeostasis. Balanced management of care for organ transplant recipients with malignancies requires a multidisciplinary approach involving medical oncologists and transplant physicians to reach the best quality of care in these complex cases.
"Awake" ECCO2R superseded intubation in a near-fatal asthma attack
Authors: Thomas-Michael Schneider, Tibor Bence, Franz Brettner
Journal: J Intensive Care (2017)
Keywords: ecco2r, ecmo, near-fatal asthma
MeSH terms: Case Reports

Background:
Near-fatal asthma attacks are life threatening events that often require mechanical ventilation. Extracorporeal carbon dioxide removal (ECCO2R) is, beside extracorporeal membrane oxygenation (ECMO), a well-established rescue option whenever ventilation gets to its limits. But there seems to be very rare experience with those techniques in avoiding mechanical ventilation in severe asthma attacks.
Case presentation:
A 67-year-old man with a near-fatal asthma attack deteriorated under non-invasive ventilation conditions. Beside pharmacological treatment, the intensivists decided to use an extracorporeal carbon dioxide removal system (ECCO2R) to avoid sedation and intubation. Within only a few hours, there was a breakthrough and the patient's status improved continuously. One and a half days later, weaning from ECCO2R was already completed.
Conclusions:
The discussion deals with several advantages of extracorporeal lung support in acute asthma, the potential of avoiding intubation and sedation, as well as the benefits of a conscious and spontaneously breathing patient. Extracorporeal membrane oxygenation (ECMO) in general and ECCO2R in particular is a highly effective method for the treatment of an acute near-fatal asthma attack. Pathophysiological aspects favor the "awake" approach, without sedation, intubation, and mechanical ventilation. Therefore, experienced clinicians might consider "awake" ECCO2R in similar cases.
Successful Treatment of a Multi-Drug-Resistant Severely Pruritic Hypersensitivity Dermatitis in a Cat
Authors: Urszula Rzeszutek
Journal: Case Rep Vet Med (2020)
MeSH terms: Case Reports

A 3-year-old neutered female domestic shorthair cat was presented with a severely pruritic dermatitis. After exclusion of flea allergy dermatitis, ectoparasite infestation, retroviral infection, neoplasia, and cutaneous adverse food reaction, a diagnosis of nonflea, nonfood hypersensitivity dermatitis (NFNFHD) was made. The resolution of complicating bacterial infection and yeast overgrowth did not improve the animal's condition. Numerous antipruritic treatment modalities used during the investigation proved unsuccessful, including anti-inflammatory and immunosuppressive prednisolone doses, oclacitinib, antihistamines, ciclosporin A, and supplementation with essential fatty acids. Allergen-specific serology test results were negative. Treatment with oral dexamethasone allowed a complete resolution of clinical signs. The cat has been successfully maintained in remission for over 12 months. To the author's knowledge, this is the first case report of a cat with multi-drug-resistant NFNFHD treated successfully with dexamethasone.
Bilateral subtrochanteric insufficiency fracture following mini-gastric bypass. A case report
Authors: Jad Mansour, Kaissar Yammine, Anthony El Alam, George Al-Hajj, Chahine Assi
Journal: SICOT J (2020)
Keywords: insufficiency fracture, mini-bypass bariatric surgery, vitamin d
MeSH terms: Case Reports

Insufficiency fractures are a common complication of bisphosphonate use and have recently been reported in association with Roux-en-Y Gastric Bypass Surgery (RYGB). This study reports a case of a 62-year-old female, 6 years status post Mini Gastric Bypass - One Anastomosis Gastric Bypass (MGB-OAGB), presenting to our institution with bilateral groin pain of 8 months duration unresponsive to conservative management. Diagnostic workup revealed bilateral medial sub-trochanteric insufficiency fractures. She underwent bilateral intramedullary fixation with satisfactory results. This case might suggest a particular fracture pattern in patients undergoing MGB-OAGB, and raises awareness to screen patients with such presentation to rule out a fracture or to prevent the extension of an existing one.
Invisalign Treatment of a Three-Year-Old Child with Bilateral Posterior Scissor Bite and Multisite Upper Airway Obstruction: A Case Report
Authors: Yilin Xin, Hongling Zhou, Yifan Zhao, Lixing Zhao
Journal: J Clin Med (2023)
Keywords: invisalign aligners, airway obstruction, crossbite, malocclusion, multidisciplinary, orthodontic, pediatrics, primary dentition, scissor bite
MeSH terms: Case Reports

Background:
Scissor bites have been reported in relatively few epidemiological studies because of their extremely low prevalence rate (below 1%). The etiology of scissor bites remains obscure, but its impact on growth and function should not be ignored.
Methods:
In this case report, a novel treatment that utilizes Invisalign aligners was performed on a 3-year-old child who presented with a bilateral posterior scissor bite and anterior crossbite, accompanied by multisite obstruction in the upper airway. The aligners functioned as occlusion pads to unlock the scissor bite relationship and combined with cross-traction to narrow the maxillary arch and enlarge the mandibular arch simultaneously.
Results:
The duration of orthodontic therapy was 28 weeks. A multidisciplinary consultation (orthodontics department, ENT department, and spinal surgery) was conducted and a stable result was achieved. A healthy occlusal relationship, improved dental esthetics and a better lateral profile were eventually obtained.
Conclusions:
Positive treatment outcomes rely on patients' good compliance in this case. In addition, we hope that clinicians will consider our situation in terms of alternative treatments and interprofessional experience.