OpenMed/multicare-articles huggingface dataset:
An Uncommon Encounter: A Comprehensive Case Report of an Advanced Esophageal Neuroendocrine Carcinoma
Authors: Kamlesh Taori, Vijendra Kirnake, Parmeshwar R Junare, Vishal Padwale
Journal: Cureus (2024)
Keywords: case report, chemotherapy, esophageal cancer, neuroendocrine tumor, small cell carcinoma
MeSH terms: Case Reports

Esophageal neuroendocrine carcinomas (E-NECs) are rare malignant tumors with unknown etiology and pathogenesis. The aggressive nature of E-NECs coupled with a tendency to metastasize and no available treatment guidelines lead to poor prognosis. Here, we report a case of a 65-year-old, previously healthy female who presented with difficulty in swallowing solids, burning sensation over the epigastric region, weight loss (>10%), and altered bowel habits for the last three months. Contrast-enhanced CT (CECT) thorax revealed asymmetric mid-esophageal wall thickening with lymphadenopathy and metastasis in both hepatic lobes. Esophageal endoscopy revealed a large circumferential ulcero-proliferative mass and umbilicated lesions. A histopathological examination revealed small cells with scant cytoplasm and pleomorphic, hyperchromatic nuclei with prominent nuclear molding, and extensive necrosis. Immunohistochemistry revealed positivity for synaptophysin, chromogranin A, and CD56. Ki-67 index was 53%. These findings suggested poorly differentiated, small cell type, high-grade E-NEC. Chemotherapy with cisplatin (30mg/m2) + irinotecan (60mg/m2) was initiated. However, following two chemotherapy cycles, the patient succumbed.
Autoimmune Polyglandular Syndrome II: A Case Report
Authors: Olfat Awad, Hadil Basma, Rim Masri, Samih Hamadeh, Majdi Hamadeh
Journal: Cureus (2024)
Keywords: adrenal insufficiency, aps ii, case report, diabetes, hyponatremia, siadh
MeSH terms: Case Reports

Autoimmune polyglandular syndrome II (APS-II), also known as Schmidt syndrome, is a rare endocrine disorder characterized by endocrine and non-endocrine illnesses. Addison's disease and at least one additional autoimmune condition, such as autoimmune thyroid disease or type 1 diabetes mellitus (T1DM), are features of APS-II. It can result from genetic and non-genetic factors. We present a case of a 60-year-old female patient with a history of T1DM and a recent diagnosis of Hashimoto's thyroiditis who was admitted to the nephrology department for hyponatremia. Investigations showed the presence of adrenal insufficiency (AI), so she was diagnosed with APS-II and had the full triad of this syndrome. Thus, it is important to think about the diagnosis of AI or other autoimmune conditions in a patient who already has one or more autoimmune diseases.
Case Report: Resuscitation of patient with tumor-induced acute pulmonary embolism by venoarterial extracorporeal membrane oxygenation
Authors: Shuang-Long Zhang, Qi-Feng Zhang, Gang Li, Miao Guo, Xiao-Xia Qi, Xiao-Hui Xing, Zheng Wang
Journal: Front Cardiovasc Med (2024)
Keywords: va-ecmo, pulmonary embolism, renal cell carcinoma, resuscitation, tumor-induced pulmonary
MeSH terms: Case Reports

Background:
Pulmonary embolism is a condition of right cardiac dysfunction due to pulmonary circulation obstruction. Malignant tumor-induced pulmonary embolism, which has a poor therapeutic outcome and a significant impact on hemodynamics, is the cause of sudden death in patients with malignant tumors.
Case description:
A 38-year-old female patient, who had a medical history of right renal hamartoma, and right renal space-occupying lesion, was admitted to the hospital. During the procedure to resect the right renal malignancy, the blood pressure and end-tidal carbon dioxide level dropped, and a potential pulmonary embolism was considered as a possibility. After inferior vena cava embolectomy, the hemodynamics in the patient remained unstable. The successful establishment of venoarterial extracorporeal membrane oxygenation (VA-ECMO) resulted in the stabilization of her hemodynamics and ventilation. On Day 2 of VA-ECMO support, her respiration and hemodynamics were relatively stable, and ECMO assistance was successfully terminated following the "pump-controlled retrograde trial off (PCRTO)" test on Day 6. The patient improved gradually after the procedure and was discharged from the hospital after 22 days.
Conclusion:
VA-ECMO can be used as a transitional resuscitation technique for patients with massive pulmonary embolism. It is critical for the perfusion of vital organs and can assist with surgical or interventional treatment, lower right heart pressure, and hemodynamic stability. VA-ECMO has a significant impact on patient prognosis and can reduce the mortality rate.
CEP55-associated lethal fetal syndrome: a case report of a Chinese family
Authors: Yeping Wang, Fang Sheng, Lingjing Ying, Qiaoli Lou, Zhaonan Yu, Kaixuan Wang, Haoyi Wang
Journal: Front Genet (2023)
Keywords: cep55, meckel syndrome, case report, fetal loss, stillbirth
MeSH terms: Case Reports

Background: Research on fetal loss related to germline mutations in single genes remains limited. Disruption of CEP55 has recently been established in association with perinatal deaths characterized by hydranencephaly, renal dysplasia, oligohydramnios, and characteristic dysmorphisms. We herein present a Chinese family with recurrent fetal losses due to compound heterozygous nonsense CEP55 variants. Case presentations: The Chinese couple had a history of five pregnancies, with four of them proceeding abnormally. Two stillbirths (II:3 and II:4) sequentially occurred in the third and fourth pregnancy. Prenatal ultrasound scans revealed phenotypic similarities between fetuses II:3 and II:4, including oligohydramnios, bilateral renal dysplasia and hydrocephalus/hydranencephaly. Clubfoot and syndactyly were also present in both stillborn babies. Fetus II:3 presented with endocardial cushion defects while fetus II:4 did not. With the product of conception in the fourth pregnancy, whole exome sequencing (WES) on fetus II:4 identified compound heterozygous nonsense CEP55 variants comprised of c.190C>T(p.Arg64*) and c.208A>T(p.Lys70*). Both variants were expected to result in lack of the TSG101 and ALIX binding domain. Sanger sequencing confirmed the presence and cosegregation of both variants. Conclusion: This is the fifth reported family wherein biallelic CEP55 variants lead to multiple perinatal deaths. Our findings, taken together with previously described phenotypically similar cases and even those with a milder and viable phenotype, broaden the genotypic and phenotypic spectrum of CEP55-associated lethal fetal syndrome, highlighting the vital biomolecular function of CEP55.
Case report: A case of novel homozygous LRBA variant induced by chromosomal segmental uniparental disomy - genetic and clinical insights
Authors: Lihua Jiang, Sen Chen
Journal: Front Immunol (2024)
Keywords: lrba gene variant, immune dysregulation, pancytopenia, paternal origin, uniparental disomy
MeSH terms: Leukocytes, Mononuclear, Uniparental Disomy / genetics, Case Reports, Adaptor Proteins, Signal Transducing / genetics, Biomarkers, Child, Preschool, Homozygote, Humans, Phenotype, Biomarkers, LRBA protein, human, Adaptor Proteins, Signal Transducing

Objective:
The study aims to report a rare case of a novel homozygous variant in the LRBA gene, originating from uniparental disomy of paternal origin. This case contributes new clinical data to the LRBA gene variant database.
Methods:
The study details the case of a 2-year-old child diagnosed in May 2023 at our center with a homozygous LRBA gene variant. Detailed clinical data of the patient were collected, including whole-exome sequencing of peripheral blood mononuclear cells, with parental genetic verification.
Results:
The child presented with recurrent respiratory infections and chronic neutropenia, progressing to pancytopenia. Imaging showed splenomegaly and enlarged lymph nodes in the axillary and abdominal regions. Peripheral blood lymphocyte count revealed reduced B cells and NK cells. Elevated cytokine levels of IFN-α and IFN-r were observed. Whole-exome sequencing revealed a nonsense homozygous variant in the LRBA gene, specifically c.2584C>T (p.Gln862Ter). The father exhibited a heterozygous variant at this locus, while no variant was found in the mother. Sample analysis indicated characteristics of uniparental disomy. According to the guidelines of the American College of Medical Genetics and Genomics (ACMG), this variant is preliminarily classified as "Likely pathogenic". Currently, there are no reports in academic literature regarding this specific variant site.
Conclusion:
LRBA gene variants can lead to a rare inborn error of immunity disease. The c.2584C>T (p.Gln862Ter) variant in exon 22 of the LRBA gene is a newly identified pathogenic variant, and the homozygous variant caused by uniparental disomy is exceedingly rare. This case represents the second global report of an LRBA gene function loss due to uniparental disomy abnormalities.
A rare case report of Erdheim-Chester disease with pericardial effusion, conduction abnormalities, and atrial infiltration
Authors: Charaf Yassine, Giuseppe Colletti, Acasandrei Ciprian, Mairesse George
Journal: Eur Heart J Case Rep (2024)
Keywords: braf(v600e), case report, dabrafenib, erdheim–chester disease, pericardial effusion
MeSH terms: Case Reports

Background:
Erdheim-Chester disease (ECD) is a rare multisystem disorder that primarily affects adults. It is characterized by the excessive production and accumulation of histiocytes, a type of white blood cell, within multiple tissues and organs, including the cardiovascular system. The infiltration of histiocytes can cause a range of cardiovascular symptoms, including pericardial effusion, myocardial infiltration, and heart failure, among others. Despite the potential severity of these cardiovascular manifestations, ECD is often misdiagnosed or underdiagnosed, leading to delays in appropriate treatment and poor outcomes for patients. As such, there is a pressing need for increased awareness and understanding of ECD's cardiovascular manifestations among clinicians and researchers. This article aims to highlight the importance of considering ECD as a potential underlying cause of cardiovascular complaints and to encourage further investigation into this uncommon but potentially life-threatening condition.
Case summary:
A 63-year-old man presented as outpatient complaining of dyspnoea on exertion during the last 3 weeks (New York Heart Association functional class III). He had also experienced a left shoulder and bilateral knee pain over the last 6 months. The patient was found to have a massive pericardial effusion associated with ECD. While pericardial effusions can have various causes, including infection, cancer, and autoimmune disorders, ECD is one potential cause of this condition. Therefore, it is important for clinicians to consider ECD in the differential diagnosis of patients presenting with unexplained pericardial effusions, particularly in the context of other systemic symptoms suggestive of ECD. We discuss about this specific aetiology and the clinical management of this uncommon condition.
Discussion:
Erdheim-Chester disease, a non-Langerhans cell histiocytosis, is a rare multisystem disorder. Diagnosis is challenging and should be suspected in the presence of a pericardial effusion with conduction abnormalities with indicators of a multisystem disease.
New Instruments for the Management of Cochlear Implantation in an Individual with a Fracture of the Temporal Bone and Cochlear Ossification
Authors: Antonio Frisina, Francesco Seno, Gionata Conni
Journal: Case Rep Otolaryngol (2024)
MeSH terms: Case Reports

Cochlear implant surgery can be highly complex in cases where ossification of the internal ear has taken place. In this case report, we report the use of new technological instruments to optimise the surgical process of implantation. These were the combined use of a surgical approach extended by a subtotal petrosectomy, a pre-operative radiological study with the OTOPLAN software for choosing the most suitable electrode array, and a residual functionality test of the auditory nerve using the ANTS test electrode array prior to inserting the cochlear implant electrode array. These were used to successfully treat a case of total deafness caused by a fracture in the temporal bone complicated with ossification of the basal turn of the cochlea. These instruments ensured that the operation was performed with excellent results, reducing the risk of failure to a minimum in this complex case.
Use of Clamp-Like Devices to Fix Bifrontal Basal Craniotomies: Three Case Reports
Authors: Álvaro Gomez de la Riva
Journal: Cureus (2024)
Keywords: case report, cranial loop, craniotomy, frontal bone, neurosurgical procedures
MeSH terms: Case Reports

The three case reports presented here provide clinical evidence of a configuration to easily and successfully fix bifrontal basal craniotomies with a clamp-like fixation device (Cranial LOOP™, NEOS Surgery, Barcelona, Spain): A 72-year-old woman undergoing resection of a meningioma at the sphenoidal level, a 43-year-old man undergoing clipping of an anterior communicating artery aneurism, and a 55-year-old woman undergoing macroscopical resection of a meningioma on the olfactory groove had their surgery performed through a bifrontal basal craniotomy, and, once the intervention was completed, the fixation of the cranial flap was performed using Cranial LOOP™, with a configuration consisting of two Cranial LOOP™ L at the basal lateral level and two additional products at the posterior frontal level. The result of this fixation was very satisfactory with no settling or artifacts during the follow-up. These cases show that Cranial LOOP™ can be used to fixate bifrontal basal craniotomies.
Repurposing of Bryophyllum pinnatum for dysmenorrhea treatment: a systematic scoping review and case series
Authors: Leonie Zurfluh, Marialuigia Giovannini Spinelli, Cornelia Betschart, Ana Paula Simões-Wüst
Journal: Front Pharmacol (2023)
Keywords: bryophyllum pinnatum, kalanchoe pinnata, contractility, dysmenorrhea, inflammation, pain, smooth muscle
MeSH terms: Systematic Review

Dysmenorrhea affects women throughout their reproductive years but there has been a lack of effective and well-tolerated treatment options. Pain symptoms mainly result from inflammatory processes and increased contractile activity in the myometrium. The reported use of Bryophyllum pinnatum preparations against inflammation and pain in ethnomedicine as well as current pharmacological data on their inhibition of myometrial contractility led us to hypothesize that this medicinal plant might be a new treatment option for dysmenorrhea. In the first part of the present work, clinical, in vivo, and in vitro studies on the anti-nociceptive and anti-inflammatory, as well as on myometrium relaxing properties of B. pinnatum are reviewed. In the second part, cases of five women with dysmenorrhea who were tentatively treated with a B. pinnatum product are described. The review revealed thirty-three experimental in vivo and in vitro studies, but no clinical study, reporting anti-nociceptive and anti-inflammatory effects of B. pinnatum extracts and compounds in a wide range of conditions. Moreover, sixteen publications on smooth muscle contractility revealed relaxing effects. The latter consisted of clinical evidence, as well as of in vivo and in vitro data. The evidence reviewed therefore provided a rational basis for the use of B. pinnatum in the treatment of dysmenorrhea. We subsequently set out to tentatively treat patients with a well-tolerated B. pinnatum product that is registered (without indication) and commonly used in obstetrics and gynecology in Switzerland. All five treated patients reported a reduction in pain symptoms and 4 out of 5 indicated a reduced intake of painkillers during menstruation. Taken together, the reviewed information on the pharmacological properties and clinical evidence of B. pinnatum extracts and compounds as well as the outcomes of all five patients in the case series support our hypothesis in favor of B. pinnatum as a new, well-tolerated therapeutic approach for dysmenorrhea. Prospective clinical studies are urgently needed.
Combined Central Retinal Artery Occlusion (CRAO) and Central Retinal Vein Occlusion (CRVO) in a Celiac Disease Patient: A Case Report
Authors: Fahad Al Fardan, Mohammed H Aldebasi, Faisal Y AlThekair, Muataz Guma, Tariq Aldebasi
Journal: Cureus (2024)
Keywords: central retinal artery occlusion, central retinal vein occlusion (crvo), combined central retinal artery and vein occlosion, s
MeSH terms: Case Reports

Celiac disease (CD) is a digestive disorder caused by an abnormal immune reaction to gluten, leading to severe malabsorption syndrome. Central retinal vein occlusion (CRVO) was reported in a couple of cases worldwide in patients with this disease entity. Herein, we are reporting a rare case of combined central retinal vein and artery occlusion in a young female celiac disease patient presented with a counting finger vision at six feet and improved to 20/60 vision after conservative management.
Fluoroscopic-Guided Removal of Jejunal Sharp Foreign Body: An Alternative Approach to Surgery
Authors: Abdulrahman Qatomah, Simon McQueen, Wafa Qatomah, Aishah Qatomah, Ali Bessissow
Journal: Case Rep Gastrointest Med (2024)
MeSH terms: Case Reports

Introduction:
Foreign body (FB) ingestion represents a frequently encountered scenario in clinical practice. Most ingested FBs typically pass spontaneously, requiring no intervention. Endoscopic removal stands out as the least invasive method, with only a minimal 1% needing surgical intervention. Case Presentation. We present a case of a 30-year-old male who ingested multiple FBs located in the stomach and small bowel. While successful removal of the stomach FB was achieved through endoscopy, the second FB in the small bowel proved challenging due to perforation concerns and limited expertise. Given a history of prior surgical intervention resulting in a large incisional hernia, surgical removal was discouraged. Consequently, a collaborative decision involving surgeon and interventional radiologist (IR) led to the adoption of a fluoroscopic-guided removal approach facilitated by IR techniques.
Conclusion:
This case highlights the potential for a less invasive alternative in situations where both endoscopic and surgical interventions are deemed not feasible.
A case of autoimmune pulmonary alveolar proteinosis responding to oral statin therapy
Authors: So Shimamura, Honami Morikawa, Ken Shinohara, Hiroki Ohkoshi, Chisa Omori, Yuuki Hoshino, Yoshinori Uchida, Saiki Masafumi, Shinnosuke Ikemura, Naoki Ohishi, Tetsuo Kondo, Kenzo Soejima
Journal: Respir Med Case Rep (2024)
MeSH terms: Case Reports

There is no approved drug treatment for autoimmune pulmonary alveolar proteinosis (APAP), although traditionally requires complex treatments such as whole lung lavage (WLL). We herein report on a 67-year-old man diagnosed with APAP. Treatment with atorvastatin (5 mg daily) resulted in significant improvement in symptoms, lung function, and computed tomography findings, with enhanced oxygenation, although serum anti-GM-CSF antibody levels remained elevated. This case suggests that the remission observed in this case could potentially be attributed to a direct effect of atorvastatin within the pulmonary alveoli. Statins may be considered as one of the treatment options for APAP.
Critical bloodstream infection caused by Chromobacterium violaceum: a case report in a 15-year-old male with sepsis-induced cardiogenic shock and purpura fulminans
Authors: Xueqing Wang, Yunliang Tu, Yingqun Chen, Huilin Yang, Minghua Luo, Yanyan Li, Lei Huang, Hua Luo
Journal: Front Med (Lausanne) (2024)
Keywords: chromobacterium violaceum, va ecmo, cardiogenic shock, purpura fulminans, sepsis
MeSH terms: Case Reports

Chromobacterium violaceum (C. violaceum) is a gram-negative bacillus that is widespread in tropical and subtropical areas. Although C. violaceum rarely infects humans, it can cause critical illness with a mortality rate above 50%. Here, we report the successful treatment of a 15-year-old male who presented with bloodstream infection of C. violaceum along with sepsis, specific skin lesions, and liver abscesses. Cardiogenic shock induced by sepsis was reversed by venoarterial extracorporeal membrane oxygenation (VA ECMO). Moreover, C. violaceum-related purpura fulminans, which is reported herein for the first time, was ameliorated after treatment. This case report demonstrates the virulence of C. violaceum with the aim of raising clinical awareness of this disease.
A case of paradoxical vocal cord movement misdiagnosed as anaphylaxis
Authors: Mustafa Ilker Inan, Yasemin Akgul Balaban, Sait Yesillik, Ozgur Kartal
Journal: Allergol Select (2024)
Keywords: anaphylaxis, paradoxical vocal cord movement
MeSH terms: Case Reports

Introduction:
Anaphylaxis is a severe and life-threatening systemic hypersensitivity reaction. The most frequently encountered causes are foods, drugs, and bee venom, but anaphylaxis may also occur idiopathically. Paradoxical vocal cord movement (PVCM), is a cause of upper airway obstruction due to abnormal adduction of vocal cords during inspiration and, to some degree on expiration. It may be misdiagnosed as asthma or anaphylaxis, and there may be delays in diagnosis.
Case report:
We present a 20-year-old male patient with coexistence of urticaria and stridor findings who was evaluated and treated as having idiopathic anaphylaxis but then was diagnosed with PVCM after recurrence of stridor attacks.
Conclusion:
It is useful to bear the diagnosis of PVCM in mind in patients with recurrent and unexplained stridor or in patients with stridor that does not improve despite treatment for another diagnosis such as anaphylaxis. This way, administration of epinephrine, high-dose corticosteroids and interventions such as intubation or tracheostomy can be avoided.
Case Report: Anti-mGluR5 antibody-negative Ophelia syndrome with failed lymph node biopsy due to steroid therapy
Authors: Yui Sanpei, Masahito Miura, Homare Funasaka, Akira Hanazono, Sachiko Kamada, Masashiro Sugawara
Journal: Front Immunol (2023)
Keywords: hodgkin lymphoma, ophelia syndrome, anti-mglur5 antibody, paraneoplastic limbic encephalitis, steroid
MeSH terms: Hodgkin Disease / complications, Limbic Encephalitis / etiology, Case Reports, Antibodies, Humans, Lymph Nodes / pathology, Steroids / therapeutic use, Syndrome, Antibodies, Steroids

Ophelia syndrome is paraneoplastic limbic encephalitis (PLE) with Hodgkin lymphoma. Some Ophelia syndrome patients have been reported as testing positive for anti-metabotropic glutamate receptor 5 (mGluR5) antibodies. However, we experienced a case of anti-mGluR5 antibody-negative Ophelia syndrome. The type of onset, neurological symptoms, and imaging as well as electroencephalographic findings were like previous reports except for a normal cell count in cerebrospinal fluid (CSF). Unfortunately, a lymph node biopsy failed and could not diagnose the patient before death because steroid treatment for limbic encephalitis had shrunk lymph nodes. We believe it is essential to accumulate cases of this syndrome and clarify the association between PLE and Hodgkin lymphoma so chemotherapy can be initiated even if malignant lymphoma cannot be pathologically proven or when antibodies cannot be measured or are negative.