OpenMed/multicare-articles huggingface dataset:
Successful pregnancy with donor eggs in-vitro fertilization after premature ovarian insufficiency in a tertiary hospital in a low-income setting: a case report
Authors: Thomas Obinchemti Egbe, Carine Youta Wafo, Berthe Bebey Bollo, Christian Pany, Monique Jong Onomo, Guy Sandjon
Journal: Fertil Res Pract (2016)
Keywords: cesarean section, donor eggs, in-vitro fertilization, premature ovarian insufficiency, recipient
MeSH terms: Case Reports

Background:
Premature Ovarian Insufficiency (POI) is classically defined as 4-6 months of cessation of menses (amenorrhea) in women under 40, associated with menopausal level of serum gonadotropins FSH > 40 IU/L and hypo-estrogenism and is also referred to as hypergonadotropic hypogonadism. This disorder can manifest as primary amenorrhea without the onset of menses (menarche), or as secondary amenorrhea after menarche and pubertal development. The diagnosis of this condition in Cameroon is sometimes difficult because of the high cost of hormonal assays and the few laboratories offering these services.
Case presentation:
The patient was a 38-year-old G2P0020, blood group O Rh positive, genotype AA and BMI 19 kg/m2 who came to our service because of secondary amenorrhea and infertility of 2 years' duration. She has a history of pulmonary tuberculosis that was treated in Cameroon. After laparoscopy and hormonal profile, the diagnosis of premature ovarian insufficiency was reached. The woman underwent a successful donor egg in-vitro fertilization cycle and delivered a female fetus. Two years later YE requested IVF with autologous eggs, which was not possible, and since then she has remained with one child.
Conclusion:
The diagnosis of premature ovarian insufficiency is difficult in Cameroon because of the high cost of laboratory investigations and difficult access to the tests. In-vitro fertilization with donor egg is a better treatment option. Unfortunately, it is not accessible to most Cameroonians because of lack of technical ability and the existence of cultural and financial barriers.
Chronic q Fever with no elevation of inflammatory markers: a case report
Authors: Matteo Boattini, André Almeida, Rita Barata Moura, João Abreu, Ana Sofia Santos, Miguel Toscano Rico
Journal: Case Rep Med (2012)

We describe the case of a 55-year-old man with a biological prosthetic aortic valve who suffered from epigastrium and right hypochondrium pain associated with intermittent night sweats. Liver biopsy showed infectious hepatitis pattern without pathognomonic features. Coxiella burnetii serology was suggestive of chronic Q fever, and modified Duke's criteria for endocarditis were also fulfilled. The authors present a brief literature review concerning chronic Q fever, emphasizing absent previous reports of chronic Q fever with hepatitis and endocarditis and no increase in inflammatory markers.
Case Report: Deficiency of Adenosine Deaminase 2 Presenting With Overlapping Features of Autoimmune Lymphoproliferative Syndrome and Bone Marrow Failure
Authors: Gianluca Dell'Orso, Alice Grossi, Federica Penco, Roberta Caorsi, Elena Palmisani, Paola Terranova, Francesca Schena, Michela Lupia, Erica Ricci, Shana Montalto, Filomena Pierri, Isabella Ceccherini, Francesca Fioredda, Carlo Dufour, Marco Gattorno, Maurizio Miano
Journal: Front Immunol (2021)
Keywords: dada2, autoimmune lymphoproliferative syndrome (alps), bone marrow failure (bmf), inborn errors of immunity (iei), next-generation sequencing (ngs), primary immune regulatory disorders (pirds)
MeSH terms: Adenosine Deaminase / deficiency, Autoimmune Lymphoproliferative Syndrome / genetics, Bone Marrow Failure Disorders / genetics, Intercellular Signaling Peptides and Proteins / deficiency, Case Reports, Research Support, Non-U.S. Gov't, Adrenal Cortex Hormones / therapeutic use, Anemia, Hemolytic, Autoimmune / genetics, Blood Component Transfusion, Child, Preschool, Combined Modality Therapy, Delayed Diagnosis, Fatal Outcome, Genes, Recessive, Genetic Association Studies, High-Throughput Nucleotide Sequencing, Humans, Immunosuppressive Agents / therapeutic use, Iron Chelating Agents / therapeutic use, Multiple Organ Failure / etiology, Mutation, Missense, Pedigree, Pulmonary Embolism / etiology, Purpura, Thrombocytopenic, Idiopathic / genetics, STAT3 Transcription Factor / genetics, Splenectomy, Symptom Assessment, Adrenal Cortex Hormones, Immunosuppressive Agents, Intercellular Signaling Peptides and Proteins, Iron Chelating Agents, STAT3 Transcription Factor, STAT3 protein, human, ADA2 protein, human, Adenosine Deaminase

Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disease associated with a highly variable clinical presentation, such as vasculitis, inflammation, and hematologic manifestations. Some associations of clinical features can mimic autoimmune lymphoproliferative syndrome (ALPS). We report a case of a female patient who fulfilled the 2009 National Institute of Health revised criteria for ALPS and received a delayed diagnosis of DADA2. During her childhood, she suffered from autoimmune hemolytic anemia, immune thrombocytopenia, and chronic lymphoproliferation, which partially responded to multiple lines of treatments and were followed, at 25 years of age, by pulmonary embolism, septic shock, and bone marrow failure with myelodysplastic evolution. The patient died from the progression of pulmonary disease and multiorgan failure. Two previously unreported variants of gene ADA2/CECR1 were found through next-generation sequencing analysis, and a pathogenic role was demonstrated through a functional study. A single somatic STAT3 mutation was also found. Clinical phenotypes encompassing immune dysregulation and marrow failure should be evaluated at the early stage of diagnostic work-up with an extended molecular evaluation. A correct genetic diagnosis may lead to a precision medicine approach consisting of the use of targeted treatments or early hematopoietic stem cell transplantation.
Mendelian Susceptibility to Mycobacterial Disease: The First Case of a Diagnosed Adult Patient in the Czech Republic
Authors: Miroslav Prucha, Hana Grombirikova, Pavel Zdrahal, Marketa Bloomfield, Zuzana Parackova, Tomas Freiberger
Journal: Case Reports Immunol (2020)
MeSH terms: Case Reports

We present a case of a 42-year-old woman with Mendelian susceptibility to mycobacterial disease. The disease was diagnosed at an adult age with relatively typical clinical manifestations; the skeleton, joints, and soft tissues were affected by nontuberculous mycobacteria: Mycobacterium lentiflavum, M. kansasii, and M. avium. A previously published loss-of-function and functionally validated variant NM_000416.2:c.819_822delTAAT in IFNGR1 in a heterozygous state was detected using whole-exome sequencing. After interferon-γ therapy was started at a dose of 200 µg/m2 three times a week, there was significant clinical improvement, with the need to continue the macrolide-based combination regimen. In the last 4 months, she has been in this therapy without the need for antibiotic treatment.
Non-ketotic Hyperglycemia Chorea-Ballismus and Intracerebral Hemorrhage: A Case Report and Literature Review
Authors: Mingming Dong, Jian-Yu E, Liyang Zhang, Weiyu Teng, Li Tian
Journal: Front Neurosci (2021)
Keywords: case report, diabetic striatopathy, differential diagnosis, hyperdense signs on neuroimaging, intracerebral hemorrhage, metabolical syndrome, non-ketotic hyperglycemia chorea-ballismus
MeSH terms: Case Reports

Non-ketotic hyperglycemia chorea-ballismus (NKH-CB) is a rare metabolical syndrome secondary to the hyperglycemic condition, which is characterized by a triad of acute or subacute hemichorea-hemiballismus, hyperglycemic state, and unique abnormalities limited to the striatum on neuroimaging. Several related case studies on this disorder have been reported previously, but NKH-CB had never been associated with intracerebral hemorrhage (ICH). Herein, we report an uncommon case of NKH-CB and ICH that occurred simultaneously in one patient, which provides a challenge for clinicians in making a correct diagnosis. An 88-year-old woman with a long-term history of poor-controlled type 2 diabetes mellitus and hypertension, who presented with a sudden-onset headache, restlessness, severe bilateral choreiform and ballistic movements, elevated levels of glucose and osmolality in the serum, an increased white blood cell count, and two-type hyperdense signs on CT imaging, was finally diagnosed with NKH-CB and ICH. Despite administrated active treatments, the patient's clinical status did not improve and ultimately passed away. This case is reported to remind clinicians to consider the possibility of NKH-CB when patients present sudden-onset choreiform and ballistic movements. It is also the first entity with two-type hyperdense signs on CT imaging simultaneously, which helps us distinguish NKH-CB from ICH more intuitively.
Suspected Pulmonary Metastasis of Actinic Cutaneous Squamous Cell Carcinoma
Authors: Monet E Meter, David J Nye, Christian R Galvez
Journal: Case Rep Surg (2017)
MeSH terms: Case Reports

Introduction. It is rare for actinic or squamous cell carcinoma (SCC) in situ to metastasize. Case Presentation. A 67-year-old male had a significant medical history including severe psoriatic arthritis treated with UVB, methotrexate, and rapamycin. He had twenty-five different skin excisions of actinic keratosis four of which were invasive SCC. Our patient developed shortness of breath necessitating a visit to the emergency department. A CT scan of his chest revealed a mass in the right lower lung. A subsequent biopsy of the mass revealed well-differentiated SCC. He underwent thoracoscopic surgery with wedge resection of the lung lesion. Discussion. Actinic keratosis (AK) is considered precancerous and associated with UV exposure. It exists as a continuum of progression with low potential for malignancy. The majority of invasive SCCs are associated with malignant progression of AK, but only 5-10% of AKs will progress to malignant potential. Conclusion. In this case, a new finding of lung SCC in the setting of multiple invasive actinic cutaneous SCC associated with a history of extensive UV light exposure and immunosuppression supports a metastatic explanation for lung cancer.
Case Report: Monoclonal Gammopathies of Clinical Significance-Associated Myopathy: A Case-Based Review
Authors: Hongbin Yu, Du He, Qing Zhang, Bei Cao, Weiping Liu, Yu Wu
Journal: Front Oncol (2022)
Keywords: mgcs, mgus, amyloidosis, myopathy, nemaline myopathy
MeSH terms: Case Reports

Monoclonal gammopathies of clinical significance (MGCS)-associated myopathy is a group of muscular MGCS-based rare manifestations. It mainly includes amyloid light chain (AL) amyloidosis and sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance. When myopathy manifests as the initial or sole clinical symptom, it can often be delayed or misdiagnosed as other myopathies. We report the case of a 60-year-old man who initially presented with fatigue and muscle weakness of the symmetric proximal lower limbs. Muscle biopsy did not reveal mononuclear cell infiltration, atrophy, necrosis, or positive Congo red staining results. The results of serum protein electrophoresis and immunofixation electrophoresis were negative. No specific diagnosis was established. After 1 year, the patient was diagnosed with AL amyloidosis after myocardial and fat pad biopsies were performed and myopathy was diagnosed as AL amyloidosis-associated myopathy after reassessment. The patient received CyBorD regime chemotherapy and achieved hematological and organ remission. Therefore, we reviewed the clinical and pathological manifestations of MGCS-associated myopathies. Based on published articles and the present case, we conclude that comprehensive screening for MGCS in unexplained myopathy is essential to avoid misdiagnosis or delayed diagnosis.
Case report: Overlapping syndrome mimicking infectious meningoencephalitis in a patient with coexistent MOG, NMDAR, mGluR5 antibody positivity
Authors: Jie Fu, Lilei Peng, Yang Yang, Yang Xie, Zuoxiao Li, Benbing Rong
Journal: Front Immunol (2022)
Keywords: n-methyl-d-aspartate receptor, meningoencephalitis, metabotropic glutamate receptor 5, myelin oligodendrocyte glycoprotein, overlapping syndrome
MeSH terms: Autoimmune Diseases, Connective Tissue Diseases, Encephalitis, Meningoencephalitis / diagnosis, Meningoencephalitis / drug therapy, Case Reports, Research Support, Non-U.S. Gov't, Humans, Male, Myelin-Oligodendrocyte Glycoprotein, Psychomotor Agitation, Receptors, N-Methyl-D-Aspartate, Seizures, Syndrome, Myelin-Oligodendrocyte Glycoprotein, Receptors, N-Methyl-D-Aspartate

A 38-year-old Chinese Han man presented with fever, headache and difficulty in language expression. The initial cerebrospinal fluid (CSF) analysis revealed lymphocytic-predominant pleocytosis with a normal glucose level, and magnetic resonance imaging (MRI) showed extensive cortical edema in left cerebral hemisphere. He received the antiviral treatment. However, one week later, he developed psychomotor agitation and seizures. Lumbar puncture was performed again and further testing for autoantibodies was conducted in both the CSF and serum. His CSF was positive for anti-myelin oligodendrocyte glycoprotein (MOG), anti-N-methyl-D-aspartate receptor (NMDAR) and anti-metabotropic glutamate receptor 5 (mGluR5) antibodies. He was diagnosed with overlapping syndrome of MOG antibody-related cerebral cortical encephalitis and anti-NMDAR, anti-mGluR5 autoimmune encephalitis. He received intravenous methylprednisolone and immunoglobulin, followed by oral prednisone and mycophenolate mofetil. His psychomotor agitation and seizures were relieved, and he gradually recovered his language expression ability. We reported for the first time a case that was positive for coexistent MOG, NMDAR, mGluR5 antibodies, which was initially misdiagnosed as infectious meningoencephalitis. This case widens the clinical spectrum of the overlapping syndrome recently reported.
Case Report: Missing zinc finger domains: hemophagocytic lymphohistiocytosis in a GATA2 deficiency patient triggered by non-tuberculous mycobacteriosis
Authors: Xin Huang, Bingxuan Wu, Di Wu, Xiaoming Huang, Min Shen
Journal: Front Immunol (2023)
Keywords: gata2, gata2 deficiency, mycobacterium avium, hemophagocytic lymphohistiocytosis (hlh), zinc finger domain
MeSH terms: GATA2 Deficiency / complications, GATA2 Deficiency / diagnosis, GATA2 Deficiency / genetics, Lymphohistiocytosis, Hemophagocytic / diagnosis, Lymphohistiocytosis, Hemophagocytic / genetics, Mycobacterium avium-intracellulare Infection / complications, Mycobacterium avium-intracellulare Infection / diagnosis, Review, Case Reports, Research Support, Non-U.S. Gov't, Adult, GATA2 Transcription Factor / genetics, Haploinsufficiency, Humans, Male, Zinc Fingers / genetics, GATA2 protein, human, GATA2 Transcription Factor

Haploinsufficiency of GATA2, also known as GATA2 deficiency, leads to a wide spectrum of clinical manifestations. Here we described another 28-year-old man with a GATA2 variant who also suffered from hemophagocytic lymphohistiocytosis(HLH), who was finally diagnosed with HLH triggered by Mycobacterium avium bloodstream infection due to primary immunodeficiency. We reviewed GATA2 deficiency patients with HLH and found that GATA2 variants causing loss of zinc finger domains were associated with HLH, and erythema nodosa might be an accompanying symptom.
Aberrant right subclavian artery: case report and literature review
Authors: Michel Nasser, Bruna Beatriz Petrocheli, Thais Keltke Santos Felippe, Beatriz Isola, Beatriz Caroline Dos Santos Pereira, Ana Luiza Carvalho Sartoreli, João Marques Batista, Gustavo Muçouçah Sampaio Brandão
Journal: J Vasc Bras (2023)
Keywords: kommerell diverticulum, aberrant right subclavian artery, arteria lusoria, vascular anomaly
MeSH terms: Case Reports

The aberrant right subclavian artery, also known as the arteria lusoria, is the most common aortic arch anomaly, occurring in 0.5 to 1% of the population. There is a higher prevalence in women and it is usually associated with other anatomical variations, such as the non-recurrent laryngeal nerve, present in 86.7% of cases. In the majority of cases, the aberrant right subclavian artery causes no symptoms. We describe this anomaly in an 82-year-old, hypertensive, and asymptomatic patient who had undergone a thoracoabdominal angiography to investigate a chronic DeBakey type III aortic dissection with dilation of the descending aorta. The aberrant right subclavian artery followed a retroesophageal course and was associated with a Kommerell diverticulum. In view of its rarity, we conducted an integrative bibliographic review of literature from the last 6 years indexed on the Medline, UpToDate, Lilacs, Scielo, and Portal Capes databases and discuss the most frequent anatomical changes, symptomatology, and therapeutic management adopted.
Gastric adenocarcinoma: A one-of-a-kind etiology of autoimmune paraneoplastic encephalitis
Authors: Luisa Trujillo-Guerrero, Sebastian Vásquez-Garcia, Camilo Ramírez-Giraldo
Journal: Int J Surg Case Rep (2023)
Keywords: case report, gastric cancer, limbic encephalitis, paraneoplastic neurological syndrome
MeSH terms: Case Reports

Introduction and importance:
Paraneoplastic neurologic syndromes are a group of neurologic disorders that can affect any part of the nervous system and are mediated by immune pathogens produced by cancer. These disorders occur distant to a malignant tumor and are not caused by metastasis, nutritional disorders or side effects of therapy related to the tumor.
Clinical findings:
We present the case of a 47-year-old male patient who was admitted to the emergency department due to 1 month of neurological impairment including generalized tonic-clonic movements. He was admitted to the institution and was taken to multiple neurologic tests, all of which were normal, including a negative panel for onconeural antibodies. He persisted with seizures and was taken to a 24-hour video electroencephalogram which showed features consistent with moderate encephalopathy and focal epileptiform activity, which evolved into status epilepticus. Suspecting immune - mediated encephalitis, a therapeutic trial was started with methylprednisolone and plasma exchange, and a positron emission tomography was indicated. The positron emission tomography showed in the brain regions of marked hypometabolism and hypermetabolic thickening of gastric infiltrative aspect fundocorporal topography. Upper gastrointestinal endoscopy revealed in the subcardial region a mass-like lesion with an ulcer-infiltrative appearance, pathology showed an adenocarcinoma.
Conclusion:
Autoimmune encephalitis as a paraneoplastic neurological syndrome of a gastric adenocarcinoma have been documented in few patients in the literature. It is important to describe and recognize clinical findings in this cases to be able to suspect malignancy and thus have early diagnosis, start treatment promptly and avoid irreversible neurological sequelae.
Case Report: Successful Treatment With Anti-C5 Monoclonal Antibody in a Japanese Adolescent Who Developed Thrombotic Microangiopathy After Autologous Bone Marrow Transplantation for Malignant Lymphoma
Authors: Shoichi Shimizu, Tamaki Morohashi, Koji Kanezawa, Hiroshi Yagasaki, Shori Takahashi, Ichiro Morioka
Journal: Front Pediatr (2022)
Keywords: acute kidney injury (aki), anti-c5 monoclonal antibody (eculizumab), graft-versus-host disease (gvhd), membrane attack complex (c5b-9), transplant-associated thrombotic microangiopathy (ta-tma)
MeSH terms: Case Reports

Background:
Transplant-associated thrombotic microangiopathy (TA-TMA) is a serious complication of bone marrow transplantation (BMT). Recently, abnormalities in the complement system have been identified in the pathogenesis of TA-TMA, and there are series of reports stating that anti-C5 monoclonal antibody (eculizumab) is effective in patients with high levels of the membrane attack complex (C5b-9).
Case presentation:
A 12-year-old boy underwent autologous BMT after receiving high-dose chemotherapy for malignant lymphoma. The patient was engrafted on day 19 after transplantation; however, hemolytic anemia and non-immune thrombocytopenia persisted, and haptoglobin decreased on day 46. Moreover, on day 83, the patient developed pulmonary hemorrhage, hypertension, severe proteinuria, hematuria, and acute kidney injury (AKI). Pulmonary bleeding stopped with daily platelet transfusion and hemostatic agents, but reappeared on day 100. Based on the presence of destruction of red blood cells, elevated lactate dehydrogenase levels, negative direct and indirect Coombs tests, normal ADAMTS13 levels, hemolytic anemia, non-immune thrombocytopenia, and AKI, the patient was diagnosed with systemic TA-TMA and we initiated plasma exchange (PE) and continuous hemodialysis for AKI. High C5b-9 levels were identified at the start of the series of PE, therefore we decided to administer eculizumab. After three courses of eculizumab, no pulmonary hemorrhage was observed, and anemia, thrombocytopenia, renal dysfunction, hematuria, and proteinuria all tended to improve. Three years after transplantation, the patient is alive and does not require eculizumab.
Discussion:
Eculizumab is a humanized monoclonal antibody that binds complement protein C5, preventing cleavage C5 and the formation of C5b-9. In this case, TA-TMA could not be controlled with PE alone. We therefore decided to use eculizumab relatively early based on the high C5b-9 level and could resolve the momentum of TA-TMA.
Conclusion:
In previous reports, TA-TMA typically occurred in early post-allogeneic BMT of patients with lymphoma or in post-autologous BMT of patients with neuroblastoma and was treated with eculizumab. We here reported that eculizumab could be successful treatment for TA-TMA in post-autologous BMT of patient with lymphoma.
Left ventricular "diverticulum" in a patient affected by galactosialidosis
Authors: Alessandro Durante, Mariaemilia Traini, Roberto Spoladore
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

We present the case of a 35-year-old man affected by the late juvenile form of galactosialidosis. He was known for a moderate pericardial effusion which remained unchanged in the last 12 months. Last follow-up transthoracic echocardiographic examination showed a bulging of the posterior and lateral wall of the left ventricle. This finding has never been described before in galactosialidosis.
Local recurrence of gastric cancer after total gastrectomy: an unusual presentation
Authors: Bruno Martella, Fabrizio Cardin, Renata Lorenzetti, Claudio Terranova, Bruno Amato, Carmelo Militello
Journal: BMC Surg (2012)
MeSH terms: Adenocarcinoma / surgery, Gastrectomy, Neoplasm Recurrence, Local / diagnostic imaging, Stomach Neoplasms / surgery, Tomography, X-Ray Computed, Case Reports, Adenocarcinoma / diagnostic imaging, Adenocarcinoma / drug therapy, Adenocarcinoma / pathology, Aged, Antineoplastic Agents / administration & dosage, Antineoplastic Combined Chemotherapy Protocols / therapeutic use, Chemotherapy, Adjuvant, Etoposide / therapeutic use, Fluorouracil / therapeutic use, Humans, Levoleucovorin / therapeutic use, Male, Neoplasm Recurrence, Local / pathology, Stomach Neoplasms / diagnostic imaging, Stomach Neoplasms / drug therapy, Stomach Neoplasms / pathology, Antineoplastic Agents, Etoposide, Levoleucovorin, Fluorouracil, ELF protocol

A 71 years old Italian man had type 3 gastric cancer of the greater curvature. Total gastrectomy with splenectomy and D2 lymph node dissection were performed. After discharge chemotherapy ELF regimen was administered for 6 months. After 16 months from the operation a local recurrence was discovered by CT scan. Surgical en-bloc resection was performed removing pancreatic tail, splenic colic flexure and a portion of left diaphragm. Histological examination confirmed local recurrence of gastric adenocarcinoma infiltrating pancreas, colon and diaphragm with lymph node metastasis.