OpenMed/multicare-articles huggingface dataset:
End-organ damage due to iron overload related to blood transfusion in an 11-year-old male
Authors: Ahmad Chreitah, Omar Aljanati, Fatima Bress, Bushra Jamahiri, Zeina Alkilany, Sidra Assaf
Journal: Ann Med Surg (Lond) (2023)
Keywords: autoimmune haemolytic anaemia, chelators, diabetes mellitus, iron accumulation, iron overload
MeSH terms: Case Reports

Introduction and importance:
Iron overload is an abnormal accumulation of iron in parenchymal organs that leads to end-organ damage which could be either primary or secondary to repeated blood cell transfusion, its manifestations usually start in middle age and rarely in childhood.
Case presentation:
The authors present a rare case of an 11-year-old male with iron overload secondary to repeated packed blood transfusion for autoimmune haemolytic anaemia. He developed type 1 diabetes, pituitary atrophy, and hepatic injury. It was difficult to maintain good control of his diabetes. He had a fatal acute circulatory collapse due to multiple organ failure.
Clinical discussion:
Iron overload is a clinical consequence of repeated blood transfusion that could result in end-organ damage, usually occurring in adolescence and is less likely at a young age as in our case. The accumulation of iron in the tissues causes diabetes mellitus due to the destruction of β cells in the pancreas, and the increase in insulin resistance in the peripheral tissues.
Conclusion:
Iron overload is a serious complication of repeated blood transfusion, which could be prevented by early treatment with iron chelators at maximum tolerated doses.
Acute Renal Infarction After a Bilateral Aortic-Iliac Stent Thrombosis
Authors: Beatriz Chambino, Cláudio Gouveia, Cristiana Camacho, Antony Dionisio, Ana Margarida Ribeiro, Célia Henriques
Journal: Cureus (2024)
Keywords: abdominal ct angiography, aortic-iliac stent, high blood pressure, nephritic syndrome, renal artery infarction, sustained low-efficiency dialysis
MeSH terms: Case Reports

A renal infarction occurs when kidney's arterial blood supply is compromised, causing parenchymal necrosis and loss of function. It is a relatively uncommon complication and its treatment is time-dependent. We present a case where a female patient with a history of bilateral aortic-iliac stenting over 10 years before presented with chest pain, palpitations, and dyspnea associated with hypertension. The patient progressed with an acute worsening of renal function and anuria, with an urgent need for renal replacement therapy. The abdominal CT angiography confirmed a complete chronic stent thrombosis and a recent occlusion of the right renal artery causing an acute renal infarction; however, this exam was performed more than 72 hours after admission. There was no longer indication for reperfusion therapy, taking into account the time course. This case reinforces the importance of a thorough clinical history and awareness of risk factors to raise the suspicion of renal infarction that should lead to an early contrast-enhanced CT scan so that adequate therapy can be performed.
Immune dysregulation due to bi-allelic mutation of the actin remodeling protein DIAPH1
Authors: Sagar Bhattad, Somashekara H Ramakrishna, Ratan Kumar, Joseph M Choi, Janet G Markle
Journal: Front Immunol (2024)
Keywords: enteropathy, inborn errors of immunity, inflammatory bowel disease, medical genetics, pediatrics
MeSH terms: Formins / genetics, Mutation, Case Reports, Adaptor Proteins, Signal Transducing / genetics, Alleles, Female, Humans, Inflammatory Bowel Diseases / genetics, Inflammatory Bowel Diseases / immunology, Phenotype, Formins, DIAPH1 protein, human, Adaptor Proteins, Signal Transducing

Children with severe inflammatory diseases are challenging to diagnose and treat, and the etiology of disease often remains unexplained. Here we present DIAPH1 deficiency as an unexpected genetic finding in a child with fatal inflammatory bowel disease who also displayed complex neurological and developmental phenotypes. Bi-allelic mutations of DIAPH1 were first described in patients with a severe neurological phenotype including microcephaly, intellectual disability, seizures, and blindness. Recent findings have expanded the clinical phenotype of DIAPH1 deficiency to include severe susceptibility to infections, placing this monogenic disease amongst the etiologies of inborn errors of immunity. Immune phenotypes in DIAPH1 deficiency are largely driven aberrant lymphocyte activation, particularly the failure to form an effective immune synapse in T cells. We present the case of a child with a novel homozygous deletion in DIAPH1, leading to a premature truncation in the Lasso domain of the protein. Unlike other cases of DIAPH1 deficiency, this patient did not have seizures or lung infections. Her major immune-related clinical symptoms were inflammation and enteropathy, diarrhea and failure to thrive. This patient did not show T or B cell lymphopenia but did have dramatically reduced naïve CD4+ and CD8+ T cells, expanded CD4-CD8- T cells, and elevated IgE. Similar to other cases of DIAPH1 deficiency, this patient had non-hematological phenotypes including microcephaly, developmental delay, and impaired vision. This patient's symptSoms of immune dysregulation were not successfully controlled and were ultimately fatal. This case expands the clinical spectrum of DIAPH1 deficiency and reveals that autoimmune or inflammatory enteropathy may be the most prominent immunological manifestation of disease.
Non-insulinoma pancreatogenous hypoglycemia syndrome (NIPHS)/Nesidioblastosis as the underlying cause of recurrent hypoglycemia in a diabetic adult
Authors: Samikshya Thapa, Kirandeep Kaur, Gajendra Kumar Yadav, Divya Kumari, Ravi Hari Phulware
Journal: Autops Case Rep (2023)
Keywords: hyperinsulinism, hypoglycemia, nesidioblastosis, nutritional and metabolic diseases, pancreatic diseases
MeSH terms: Case Reports

Non-insulinoma pancreatogenous hypoglycemia syndrome (NIPHS), without previous bariatric surgery, is a rare form of hypoglycemia in adult patients and is associated with nesidioblastosis. Adult-onset nesidioblastosis in diabetic patients is rare and histologically identical to "non-insulinoma pancreatogenous hypoglycemia syndrome (NIPHS)". Nesidioblastosis is rare in adults and clinically and biochemically mimics Insulinoma. In the literature, there have only been four cases of adult nesidioblastosis that followed diabetes mellitus. We report a case of nesidioblastosis in a 36-year-old diabetic female presenting with dizziness, sweating, and palpitations for three years. Selective non-invasive techniques failed to detect a tumor. Based on the pursuit of an insulinoma, a distal pancreatectomy specimen was received at our laboratory, and a diagnosis of nesidioblastosis was made. She is currently on follow-up with a favorable outcome. The definitive diagnosis of nesidioblastosis is made on a histological basis. The preferred form of treatment is pancreatic surgical resection. Nesidioblastosis should be taken into consideration in cases where diabetes transforms into hyperinsulinemic hypoglycemia.
Hemoptysis caused by Parvimonas micra: case report and literature review
Authors: Axue Shao, Qingqing He, Xin Jiao, Jianbo Liu
Journal: Front Public Health (2024)
Keywords: mngs, parvimonas micra, case report, hemoptysis, literature review
MeSH terms: Firmicutes, Gram-Positive Bacterial Infections / complications, Gram-Positive Bacterial Infections / genetics, Gram-Positive Bacterial Infections / microbiology, Hemoptysis / etiology, Piperacillin, Case Reports, Review, Systematic Review, Base Composition, Humans, Male, Middle Aged, Phylogeny, RNA, Ribosomal, 16S, Sequence Analysis, DNA, Piperacillin, RNA, Ribosomal, 16S, Parvimonas micra

Background:

Parvimonas micra (P. micra), a Gram-positive anaerobic bacterium, exhibits colonization tendencies on oral mucosal and skin surfaces, potentially evolving into a pathogenic entity associated with diverse diseases. The diagnostic trajectory for P. micra-related diseases encounters delays, often with severe consequences, including fatality, attributed to the absence of symptom specificity and challenges in culture. The absence of a consensus on the diagnostic and therapeutic approaches to P. micra exacerbates the complexity of addressing associated conditions. This study aims to elucidate and scrutinize the clinical manifestations linked to P. micra, drawing insights from an extensive literature review of pertinent case reports.
Case presentation:
A 53-year-old male sought medical attention at our institution presenting with recurrent hemoptysis. Empirical treatment was initiated while awaiting pathogen culture results; however, the patient's symptoms persisted. Subsequent metagenomic next-generation sequencing (mNGS) analysis revealed a pulmonary infection attributable to P. micra. Resolution of symptoms occurred following treatment with piperacillin sulbactam sodium and moxifloxacin hydrochloride. A comprehensive literature review, utilizing the PubMed database, was conducted to assess case reports over the last decade where P. micra was identified as the causative agent.
Conclusion:
The literature analysis underscores the predilection of P. micra for immunocompromised populations afflicted by cardiovascular diseases, diabetes, orthopedic conditions, and tumors. Risk factors, including oral and periodontal hygiene, smoking, and alcohol consumption, were found to be associated with P. micra infections. Clinical manifestations encompassed fever, cough, sputum production, and back pain, potentially leading to severe outcomes such as Spondylodiscitis, septic arthritis, lung abscess, bacteremia, sepsis, and mortality. While conventional bacterial culture remains the primary diagnostic tool, emerging technologies like mNGS offer alternative considerations. In terms of treatment modalities, β-lactam antibiotics and nitroimidazoles predominated, exhibiting recovery rates of 56.10% (46/82) and 23.17% (19/82), respectively. This case report and literature review collectively aim to enhance awareness among clinicians and laboratory medicine professionals regarding the intricacies of P. micra-associated infections.
Efgartigimod as Rescue Medication in a Patient with Therapy-Refractory Myasthenic Crisis
Authors: Omar Alhaj Omar, Norma J Diel, Stefan T Gerner, Anna Mück, Hagen B Huttner, Heidrun H Krämer-Best
Journal: Case Rep Neurol Med (2024)
MeSH terms: Case Reports

Myasthenic crises (MC) are potentially life-threatening acute exacerbations of myasthenia gravis (MG) characterized by profound muscle weakness, bulbar symptoms, and potential for respiratory failure. Intravenous immunoglobulins (IVIG) and plasma exchange (PLEX) are conventional treatments for myasthenic exacerbations. Recently, new therapeutic options for generalized acetylcholine-receptor antibody positive (AchR+) MG were approved as an add-on therapy. They mainly consist of complement C5 inhibitors such as eculizumab and ravulizumab and neonatal Fc receptor antagonists such as efgartigimod with the approval of more options pending, e.g., zilucoplan and rozanolixizumab. More therapeutic options are in the pipeline. Although the data show a quick and reliable treatment response, these medications have not been studied for the therapy of myasthenic crisis. We present the case of a 57-year-old male with his first episode of generalized myasthenia gravis (MG) and positive acetylcholine-receptor antibodies (AchR+) who was transferred to our neurological intensive care unit with worsening generalized weakness, dysphagia, and respiratory distress. The crisis was triggered by pneumonia due to dysphagia. He was diagnosed with myasthenic crisis and treated with intravenous pyridostigmine, plasmapheresis (PLEX), and continued prednisone. Initial improvement was followed by deterioration, requiring readmission and additional PLEX. After a further decline, efgartigimod was administered, leading to significant improvement within 48 hours, as evidenced by reduced MG-ADL and QMG scores. The patient continued to improve and was stable enough for transfer to a rehabilitation facility. This case illustrates the potential of efgartigimod as a novel treatment for refractory myasthenic crises.
Case report: A safeguard in the sea of variants of uncertain significance: a case study on child with high risk neuroblastoma and acute myeloid leukemia
Authors: Francesco Fabozzi, Rosalba Carrozzo, Mariachiara Lodi, Angela Di Giannatale, Selene Cipri, Chiara Rosignoli, Isabella Giovannoni, Alessandra Stracuzzi, Teresa Rizza, Claudio Montante, Emanuele Agolini, Michela Di Nottia, Federica Galaverna, Giada Del Baldo, Francesco Del Bufalo, Angela Mastronuzzi, Maria Antonietta De Ioris
Journal: Front Oncol (2024)
Keywords: acute myeloid leukemia, cancer predisposition syndrome, neuroblastoma, succinate dehydrogenase complex subunit c (shdc) gene, variants of uncertain significance (vus)
MeSH terms: Case Reports

The increased availability of genetic technologies has significantly improved the detection of novel germline variants conferring a predisposition to tumor development in patients with malignant disease. The identification of variants of uncertain significance (VUS) represents a challenge for the clinician, leading to difficulties in decision-making regarding medical management, the surveillance program, and genetic counseling. Moreover, it can generate confusion and anxiety for patients and their family members. Herein, we report a 5-year-old girl carrying a VUS in the Succinate Dehydrogenase Complex Subunit C (SHDC) gene who had been previously treated for high-risk neuroblastoma and subsequently followed by the development of secondary acute myeloid leukemia. In this context, we describe how functional studies can provide additional insight on gene function determining whether the variant interferes with normal protein function or stability.
Case report: A case of anti-recoverin antibody-positive encephalitis exhibiting Cotard and Capgras delusions that was successfully treated with electroconvulsive therapy
Authors: Takaki Akahane, Naomi Takahashi, Ryota Kobayashi, Konoka Nomura, Masakazu Akiho, Yukihiro Shikama, Keisuke Noto, Akihito Suzuki
Journal: Front Psychiatry (2024)
Keywords: capgras delusion, cotard delusion, ect, anti-recoverin antibody, case report, encephalitis, rcbf
MeSH terms: Case Reports

Recoverin is a neuron-specific calcium-binding protein that is mainly located in the retina and pineal gland. Few reports have described patients with anti-recoverin antibody-positive encephalitis, and no cases of psychosis associated with this encephalitis have been reported. We report a patient with anti-recoverin antibody-positive encephalitis with Cotard and Capgras delusions who was successfully treated with electroconvulsive therapy (ECT). The patient was a 25-year-old woman. She exhibited disorientation, executive function deficits, tremors in the upper limbs, generalized athetoid-like involuntary movements, hallucinations, incontinence, and fever, which led to her admission to our hospital. Upon admission, she complained of Cotard delusions. Various diagnostic tests, including cerebrospinal fluid analysis, antibody screening, and brain imaging, were unremarkable, except for positivity for serum anti-recoverin antibodies, non-specific general slowing on electroencephalography and decreased regional cerebral blood flow (rCBF) in the frontal and occipital lobes, and increased rCBF in the basal ganglia and pons on single-photon emission computed tomography. She was eventually diagnosed with encephalitis positive for anti-recoverin antibodies and treated with immunoglobulins and steroids. Her neurological symptoms improved temporarily, but three months later, psychiatric symptoms, i.e., suicidal thoughts and Cotard and Capgras delusions, were exaggerated. After ECT, her condition significantly improved. In conclusion, the present report suggests that pineal gland dysfunction due to anti-recoverin antibody or its cross-reactivity with neuron-specific calcium-binding proteins may contribute to the neuropsychiatric symptoms observed in anti-recoverin antibody-positive encephalitis and that ECT can be a viable treatment option if immunotherapy proves ineffective. Additionally, decreased rCBF in the prefrontal cortex may be associated with the clinical features of Capgras and Cotard delusions.
A Case of Primary Aldosteronism Turned Out to Be Adrenocortical Carcinoma With Disorganized Steroidogenesis
Authors: Yohsuke Ohkubo, Yasuho Shimada, Hiroki Tanaka, Masanori Yamazaki, Mitsuhisa Komatsu
Journal: Cureus (2024)
Keywords: adrenocortical carcinoma, cortisol hypersecretion, disorganized steroid production, primary aldosteronism, steroid enzyme immunostaining
MeSH terms: Case Reports

Adrenocortical carcinoma (ACC) is a rare disease with a poor prognosis, which essentially needs an early diagnosis because surgery is the only hope of a cure. On the other hand, primary aldosteronism (PA) is an overproduction of aldosterone from the adrenal glands and is known as one of the most common causes of secondary hypertension and hypokalemia. It is mostly a benign disease. ACC accompanied by PA is extremely rare, which can result in delayed diagnosis and clinical pitfalls. A 56-year-old woman was diagnosed with PA. Mild, symptomatic PA was clinically diagnosed as a right-sided aldosterone-producing adenoma (APA) with adrenal tumor using adrenal vein sampling (AVS). The tumor imaging findings showed abnormalities on computed tomography (CT) in terms of size and attenuation value compared with typical benign adenomas. Twelve months later, the tumor was confirmed to be an ACC with cortisol hypersecretion. The resected ACC specimen did not clearly show positive findings for CYP11B1 or CYP11B2, and disorganized steroid production was suspected. However, the prevalence and clinical characteristics of adrenocortical carcinomas with disorganized steroid production remain unclear. Steroidogenic enzyme immunostaining analysis is important not only for the diagnosis of adrenal adenoma but also for a better understanding of the clinical course of hormone-producing ACC.
Apatinib manifests an unexpectedly favorable outcome in the management of axillary lymph node follicular dendritic cell sarcoma: a case report
Authors: Zhiying Feng, Zhonghai Du, Yan Liang, Juyue Zhou
Journal: Front Oncol (2024)
Keywords: apatinib, axillary lymph node, case report, follicular dendritic cell sarcoma, treatment
MeSH terms: Case Reports

We present a case of follicular dendritic cell sarcoma in the axillary lymph node, which unexpectedly showed favorable outcomes after the application of apatinib. Follicular Dendritic Cell Sarcoma (FDCS) exhibits a rare incidence and an unclear pathogenic mechanism, contributing to the limited breakthroughs in its treatment to date within the medical field. The current mainstream therapeutic approaches include surgery, CHOP(cyclophosphamide, doxorubicin, vincristine, prednisone), ICE(ifosfamide, carboplatin, etoposide), ABVD(doxorubicin, bleomycin, vinblastine, dacarbazine), and immune checkpoint inhibitors. A 38-year-old male patient was admitted to the hospital due to a lump in the right axilla and underwent surgical treatment. Postoperative pathology confirmed the diagnosis of follicular dendritic cell sarcoma. Two months post-surgery, he faced a recurrence, prompting a subsequent surgical intervention complemented by tumor radiofrequency ablation. Despite these interventions, the treatment response was suboptimal. Subsequently, the patient was treated with the CHOP regimen, but after two cycles, he developed bone metastasis. Due to the patient's limited financial resources and refusal of immunotherapy, we switched to a regimen of gemcitabine and docetaxel, but the disease progressed again after two cycles. A one-cycle trial of albumin-bound paclitaxel yielded unsatisfactory results. Ultimately, the patient was treated with Apatinib, achieving a 10-month progression-free survival. Due to the patient's limited financial circumstances, we, in the absence of guideline recommendations and evidence from evidence-based medicine, achieved a 10-month progression-free survival (PFS) solely based on experiential use of the anti-angiogenic drug, Apatinib. The purpose of this case report is to provide additional therapeutic options for FDCS treatment and to pave the way for exploring the mechanism of action of Apatinib in FDCS.
A Case of Epstein-Barr Virus-Negative Post-transplant Lymphoproliferative Disorder in a Solid Organ Transplant Recipient With Untreated Chronic Hepatitis C
Authors: Edgar Asiimwe, Monica Mead
Journal: Cureus (2024)
Keywords: ebv ptld, hepatitis c virus (hcv) infection, non-hodgkin’s lymphoma, pancreas and kidney transplant, post-transplant lymphoproliferative disorder (ptld)
MeSH terms: Case Reports

Post-transplant lymphoproliferative disorder (PTLD) is one of the most common malignancies affecting solid organ transplant recipients. The disease is frequently associated with Epstein-Barr virus (EBV) infection (70% of cases) and cases are often delineated by EBV positivity status. The oncogenesis of EBV-positive PTLD is well-described in the literature; however, the etiology of the EBV-negative subtype is poorly understood. This report describes a case of EBV-negative PTLD developing in a combined kidney-pancreas transplant recipient with an incidental finding of untreated chronic hepatitis C virus (HCV). Our experience suggests an association between HCV and EBV-negative PTLD. Additional well-designed studies are needed to further investigate this association.
CO-INFECTION OF DENGUE AND HEPATITIS A VIRUSES: A RARE CASE REPORT
Authors: Rodriguez-Saldaña Christian Alberto, Fiestas-Cordova Jessenia, Saldaña-Flores José Gerardo, Abramonte-Tene Walter David
Journal: Afr J Infect Dis (2024)
Keywords: case report, co-infection, dengue virus, hepatitis a virus

Dengue fever and hepatitis A are endemic infections caused by viruses that mostly affect developing countries (Volchkova et al., 2016). Co-infection is rare, and represents a diagnostic challenge due to their overlapping symptoms (Yakoob et al., 2009). The febrile syndrome accompanied by abdominal pain and vomiting are the common clinical manifestations of both pathologies. However, confirmation of diagnosis depends on laboratory tests ( Khetarpal and Khanna, 2016; Abutaleb and Kottilil, 2020). We report a case of a young female with dengue and hepatitis A co-infection.