OpenMed/multicare-articles huggingface dataset:
Custard apple seed induced keratitis: a harmful traditional practice in South India
Authors: Pratheeba Devi Nivean, S Malarkodi, M Nishanth, M Nivean
Journal: GMS Ophthalmol Cases (2017)
Keywords: custard apple seeds, harmful traditional practice, keratitis
MeSH terms: Case Reports

Custard apple seeds have been used as a traditional remedy for scalp infestation of lice and dandruff since many years in our part of the world. Not many people, doctors even, are aware about the ill effects of this practice. Surprisingly, there are very few reports on poisoning due to these seeds and the management is not very well streamlined. Rohit Shetty et al. highlighted the ill effects of the seeds and the need to avoid steroids in these cases as they worsen the clinical scenario. We present 2 patients who developed keratoconjunctivitis due to ocular exposure with custard apple seeds. However, we managed our cases slightly differently. We scraped off the loose epithelium and patched the eye for a day or two with topical antibiotics and lubricants. The patients responded very well. We highlight our series to describe an alternate way of treatment for cases with custard apple seed injury.
Familial Hemophagocytic Lymphohistiocytosis Secondary to PRF1 Mutation
Authors: Albaraa T Alfaraidi, Abdulaziz A Alqarni, Mohammed T Aqeel, Turki A Albalawi, Ahmed S Hejazi
Journal: Case Rep Hematol (2021)
MeSH terms: Case Reports

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome that causes systemic inflammation which can progress to multiorgan failure and death. Symptoms and signs commonly seen in HLH include high fever, hepatosplenomegaly, pancytopenia, and hypertriglyceridemia. This report describes the 8-month clinical course of a 17-year-old male with G6PD deficiency who presented with intermittent high fever of unknown origin for 8 months accompanied by pancytopenia and bilateral lower limb weakness. A pathogenic homozygous missense mutation (c.1081A > T p.(Arg361Trp)) in the PRF1 gene was detected by whole exome sequencing (WES). The brain and the whole spine MRI showed leptomeningeal enhancement at different levels involving both the brain and the spine. Therefore, a diagnosis of familial HLH type 2 with CNS involvement was confirmed. Accordingly, treatment with dexamethasone, cyclosporin, and etoposide in addition to intrathecal methotrexate and hydrocortisone was given. The patient showed a dramatic response with significant neurological improvement of the bilateral lower limb weakness. Genetic analysis has helped the patient's family with appropriate genetic counselling. This case highlights the importance of immediate treatment with immunosuppressants and the high clinical suspicion of physicians regarding HLH in areas where consanguinity is common.
Orbital Floor and Maxillary Reconstruction With Titanium Mesh and Anterolateral Thigh Free Flap
Authors: Paul Lavadera, Jerette Schultz, Jeremy C Sinkin
Journal: Eplasty (2019)
Keywords: anterolateral thigh flap, fibrous dysplasia, maxillary reconstruction, maxillectomy, orbital floor
MeSH terms: Case Reports

A 57-year-old woman with a 15-year history of a slowly growing fibrous dysplastic maxillary bony tumor underwent total left maxillectomy with subsequent maxillary reconstruction with anterolateral thigh single perforator free flap and orbital floor reconstruction with a titanium mesh implant.
Endoscopic cystogastrostomy: minimally invasive approach for pancreatic pseudocyst
Authors: Gull-Zareen Khan Sial, Abid Quddus Qazi, Mohammed Aasim Yusuf
Journal: APSP J Case Rep (2015)
Keywords: endoscopic cystogastrostomy, paediatric patients, pancreatic pseudocyst
MeSH terms: Case Reports

Pancreatic pseudocysts in children are not uncommon. Non-resolving pseudocysts often require surgical intervention. Endoscopic cystogastrostomy is a minimally invasive procedure which is recommended for this condition. We report a large pancreatic pseudocyst in a 4-year old child, which developed following therapy with PEG-Asparaginase for acute lymphoblastic leukemia. It was managed with minimally invasive procedure.
Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity MYCN Mutation: A Case Report
Authors: Magdalena Klaniewska, Krystian Toczewski, Anna Rozensztrauch, Michal Bloch, Agata Dzielendziak, Piotr Gasperowicz, Ryszard Slezak, Rafał Ploski, Małgorzata Rydzanicz, Robert Smigiel, Dariusz Patkowski
Journal: Front Pediatr (2021)
Keywords: feingold syndrome, mycn, esophageal atresia, familial occurrence, tracheoesophageal fistula
MeSH terms: Case Reports

The MYCN oncogene encodes a transcription factor belonging to the MYC family. It is primarily expressed in normal developing embryos and is thought to be critical in brain and other neural development. Loss-of-function variants resulting in haploinsufficiency of MYCN, which encodes a protein with a basic helix-loop-helix domain causes Feingold syndrome (OMIM 164280, ORPHA 391641). We present an occurrence of esophageal atresia (EA) with tracheoesophageal fistula in siblings from a three-generation family affected by variable expressivity of MYCN mutation p.(Ser90GlnfsTer176) as a diagnostic effect of searching the cause of familial esophageal atresia using NGS-based whole-exome sequencing (WES). All of our affected patients showed microcephaly and toe syndactyly, which were frequently reported in the literature. Just one patient exhibited clinodactyly. None of the patients exhibited brachymesophalangy or hypoplastic thumbs. The latest report noted that patients with EA and Feingold syndrome were also those with the more complex and severe phenotype. However, following a thorough review of the present literature, the same association was not found, which is also confirmed by the case we described. The variable phenotypic expression of the patients we described and the data from the literature guide a careful differential diagnosis of Feingold syndrome even in cases of poorly expressed and non-specific symptoms.
Effects of electroacupuncture on pediatric chronic urinary retention: a case-series study
Authors: Min Yang, Shuai Gao, Hao Yao, Xin He, Jiufei Fang, Yu Chen, Zhishun Liu
Journal: Front Pediatr (2023)
Keywords: case-series, chronic urinary retention, electroacupuncture, lumbosacral surgeries, pediatric patients

Objectives:
This study aims to preliminarily evaluate the effect and safety of electroacupuncture (EA) in treating pediatric chronic urinary retention (CUR) following lumbosacral surgeries, with treatment duration evaluated.
Methods:
This prospective case-series study was performed from August 5, 2017, to July 31, 2022. Pediatric patients diagnosed with CUR following lumbosacral surgeries were included and treated by EA for 2-16 weeks. Responders were defined as participants achieving a reduction of 50% or more in post void residuals (PVR) from baseline. Time-to-event analysis was applied to explore the association between EA treatment duration and response rate. Adverse event was recorded.
Results:
Totally 14 participants (mean [SD] age, 12 [4] years) completed EA treatment. Response rate was 71% (10/14) at the 12th week. 50% (7/14) of participants removed catheters at the 12th week, and none of them experienced re-catheterization in the 24-week follow-up. No serious adverse event was reported. Time-to-event analysis estimated that over 50% patients could respond to EA of more than 8 weeks. Subgroup analysis showed that participants with baseline PVR ≥300 ml and CUR duration ≥12 months experienced longer EA duration to reach the response rate of 50%, compared with those whose PVR <300 ml and CUR duration <12 months (median value: 12 weeks vs. 8 weeks, 12 weeks vs. 4 weeks, respectively).
Conclusions:
EA could reduce PVR for pediatric patients suffering from CUR following lumbosacral surgeries, with long-term efficacy and safety. EA treatment of more than 8 weeks was reasonable. Further study of a larger sample and controlling is needed.
Clinical trial registration:
www.chictr.org.cn, identifier, ChiCTR1800020222.
Beyond the Local Basic Panel: Full CFTR Gene Analysis Identifies Novel CF Mutation Missed on Standard Testing in an Arabic Child
Authors: Nader Francis, Sinan Yavuz, Basil Elnazir
Journal: Cureus (2023)
Keywords: cf diagnosis, cftr gene mutation, cystic fibrosis (cf), pediatric, rare genetic mutation
MeSH terms: Case Reports

Cystic fibrosis (CF) is an autosomal recessive disease caused by different mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It is the most common inherited disorder in the Caucasian population, with around 2000 mutations identified for the CFTR gene. The precise prevalence of CF in Arab countries remains unknown, with the prevalence of F508 del found to be a common type with other endemic mutations. We describe the case of a CF patient who was diagnosed at the age of seven years. She presented post-cardiac surgery for further evaluation for a recurrent chest infection and subtle dysmorphic features. CF genetic testing for the most common 31 mutations (CF panel) was negative, and a novel mutation was identified on CFTR gene sequencing.
COVID-19 Presentation in Association with Myasthenia Gravis: A Case Report and Review of the Literature
Authors: Elif Aksoy, Turgut Oztutgan
Journal: Case Rep Infect Dis (2020)
MeSH terms: Case Reports

Currently, there are scarce data on how COVID-19 affects people with myasthenia gravis. Theoretically, there is a higher risk of experiencing severe manifestations of COVID-19 due to the common use of immunosuppressive drugs and potential respiratory failure in relation to respiratory muscle weakness. This is one of the early cases of COVID-19 reported in association with myasthenia gravis. Here, we highlight the prognosis, discuss the pathophysiological mechanisms, and prompt the consideration of convalescent plasma therapy in myasthenia gravis patients with concomitant COVID-19.
A case report of surgical repair of a post-catheterization radial pseudoaneurysm
Authors: Spyros Ioannis Papadoulas, Polyzois Tsantrizos, Natasa Kouri, Andreas Tsimpoukis, Nikolaos Koutsogiannis, Konstantinos George Moulakakis, Stavros Konstantinos Kakkos, Periklis Davlouros
Journal: Pan Afr Med J (2022)
Keywords: radial access, case report, radial pseudoaneurysm
MeSH terms: Aneurysm, False / diagnostic imaging, Aneurysm, False / etiology, Aneurysm, False / surgery, Radial Artery / surgery, Case Reports, Aged, 80 and over, Catheterization / adverse effects, Coronary Angiography, Humans, Rupture, Wrist

We report an 83-year-old patient with a huge post-catheterization right radial pseudoaneurysm, presented 17 months after a coronary angiography. Cases of radial post-catheterization pseudoaneurysms with a similar size are scarce in the literature. Delay in presentation led to painful skin ischemia due to tension, a sign of imminent rupture, which is also rare in the literature. Symptomatology included severe wrist pain and clinical signs consisted of a pulsatile painful mass in the right distal forearm. Management consisted of surgical excision and ligation of the radial artery in an urgent base. This case emphasizes the need for early diagnosis and management of post-catheterization pseudoaneurysms as delay may lead to severe enlargement with skin necrosis and imminent rupture. Ligation of the radial artery is an acceptable option when reconstruction of the artery is troublesome, provided that the palmar arch remains patent.
Percutaneous Trans-septal Mitral Valve-in-Ring Implantation Using a Transcatheter Balloon-Expandable Transcatheter Heart Valve With Elective Intra-Procedural Artero-Venous ECMO in a Patient With Severely Reduced Left Ventricular Ejection Fraction
Authors: Francesca Ristalli, Silvia Maiani, Brunilda Hamiti, Alessio Mattesini, Francesco Meucci, Miroslava Stolcova, Carlo Di Mario
Journal: Front Cardiovasc Med (2019)
Keywords: va-ecmo, left ventricular dysfunction (lv dysfunction), mitral valve in ring, trans-septal access, transcatheter heart valve (thv)
MeSH terms: Case Reports

Percutaneous mitral valve-in-valve implantation is an emerging option in patients with surgical bioprosthesis failure or failing mitral annuloplasty and increased surgical risk. We present a case of transcatheter transvenous trans-septal mitral valve-in-ring (TMVinR) procedure, in a patient with severe left ventricular dysfunction and severe mitral regurgitation, after surgical mitral annuloplasty, managed with periprocedural mechanical circulatory support (MCS) with VA-ECMO.
A Rapidly Enlarging Squamous Inclusion Cyst in an Axillary Lymph Node following Core Needle Biopsy
Authors: Cunxian Zhang, Jinjun Xiong, M Ruhul Quddus, Joyce J Ou, Katrine Hansen, C James Sung
Journal: Case Rep Pathol (2012)
MeSH terms: Case Reports

A 73-year-old woman was found to have a 1.7 cm axillary mass, for which a core needle biopsy was performed. The specimen revealed fragmented squamous epithelium surrounded by lymphoid tissue consistent with a squamous inclusion cyst in a lymph node, but a metastatic squamous cell carcinoma could not be excluded. Within one month, the lesion enlarged to 5 cm and was excised. Touch preparation cytology during intraoperative consultation displayed numerous single and sheets of atypical epithelioid cells with enlarged nuclei and occasional mitoses, suggesting a carcinoma. However, multinucleated giant cells and neutrophils in the background indicated reactive changes. We interpreted the touch preparation as atypical and recommended conservative surgical management. Permanent sections revealed a ruptured squamous inclusion cyst in a lymph node with extensive reactive changes. Retrospectively, the atypical epithelioid cells on touch preparation corresponded to reactive histiocytes. This is the first case report of a rapidly enlarging ruptured squamous inclusion cyst in an axillary lymph node following core needle biopsy. Our case demonstrates the diagnostic challenges related to a ruptured squamous inclusion cyst and serves to inform the readers to consider this lesion in the differential diagnosis for similar situations.
Results after En Bloc Lateral Wall Decompression Surgery with Orbital Fat Resection in 111 Patients with Graves' Orbitopathy
Authors: Nicole Fichter, Rudolf F Guthoff
Journal: Int J Endocrinol (2015)

Purpose. To evaluate the effect of en bloc lateral wall decompression with additional orbital fat resection in terms of exophthalmos reduction and complications. Methods. A retrospective, noncomparative case series study from 1999 to 2011 (chart review) in Graves' orbitopathy (GO) patients. The standardized surgical technique involved removal of the lateral orbital wall including the orbital rim via a lid crease approach combined with additional orbital fat resection. Exophthalmos, diplopia, retrobulbar pressure sensation, and complications were analyzed pre- and postoperatively. Results. A total of 111 patients (164 orbits) with follow-up >3 months were analysed. Mean exophthalmos reduction was 3.05mm and preoperative orbital pressure sensation resolved or improved in all patients. Visual acuity improved significantly in patients undergoing surgery for rehabilitative or vision threatening purposes. Preoperative diplopia improved in 10 patients (9.0%) but worsened in 5 patients (4.5%), necessitating surgical correction in 3 patients. There were no significant complications; however, one patient had slight hollowing of the temporalis muscle around the scar that did not necessitate revision, and another patient with a circumscribed retraction of the scar itself underwent surgical correction. Conclusions. The study confirms the efficiency of en bloc lateral wall decompression in GO in a large series of patients, highlighting the low risk of disturbance of binocular functions and of cosmetic blemish in the temporal midface region.
Monoclonal antibody desensitization in a patient with a generalized urticarial reaction following denosumab administration
Authors: D Gutiérrez-Fernández, María-Jesús Cruz, A Foncubierta-Fernández, A Moreno-Ancillo, M J Fernández-Anguita, F Medina-Varo, J A Andres-García
Journal: Allergy Asthma Clin Immunol (2015)
Keywords: hypersensitivity reaction, osteoporosis, mabs
MeSH terms: Case Reports

Denosumab is a human monoclonal antibody indicated for the treatment of osteoporosis in postmenopausal women with a high risk of fractures. To our knowledge, no cases of desensitization to this drug have been described in the literature. We report the first case of generalized urticarial reaction and facial angioedema after therapy with denosumab. A subcutaneous desensitization protocol was successfully completed in this patient. Rapid desensitization is a promising method for the delivery of denosumab after a hypersensitivity reaction, and should be considered in osteoporosis treatment when no acceptable therapeutic alternatives are available.
Case Report: A rare cause of vaginal bleeding at Keren Zonal Referral Hospital, Eritrea
Authors: Million Abraha, Shiden Solomon
Journal: F1000Res (2019)
Keywords: anemia, case report, infestation, leech, vaginal bleeding
MeSH terms: Case Reports

Vaginal bleeding due to leech infestation is a very uncommon but important gynaecological problem. This report presents the case of a 65-year-old woman who presented to Keren Regional Referral Hospital, Eritrea, with vaginal bleeding of two and half weeks duration, dizziness and fatigue. On the day of her admission complete blood count and speculum exam were done and she was diagnosed with anaemia due to cervical leech infestation. Routine speculum exam for vaginal bleeding is recommended in cases with history of holy water or springs visits to prevent unnecessary diagnostic tests and for rapid management.
Case Report: Exceptional Response to Poziotinib in Patient with Metastatic Non-Small Cell Lung Cancer With EGFR Exon 20 Insertion Mutation
Authors: Arsela Prelaj, Achille Bottiglieri, Gajanan Bhat, Rocky Washington, Giuseppina Calareso, Gabriella Francesca Greco, Roberto Ferrara, Marta Brambilla, Alessandro De Toma, Mario Occhipinti, Sara Manglaviti, Alberto Soro, Monica Ganzinelli, Giuseppe Lo Russo, Claudia Proto
Journal: Front Oncol (2022)
Keywords: egfr, nsclc, complete response (cr), exon 20 insertion (ex20ins), exon 20 insertion mutation, lung cancer, poziotinib, target therapy
MeSH terms: Case Reports

Among the several next-generation tyrosine kinase inhibitors (TKIs) tested against uncommon EFGR alterations, poziotinib has been demonstrated to be a powerful agent for metastatic non-small-cell lung cancer (mNSCLC) with aberrations in HER2 exon 20, and FDA approval is being sought in the previously-treated population. Poziotinib has also shown activity in mNSCLC with aberrations in EGFR exon 20. Herein, we report the first published case of a patient affected by mNSCLC harbouring an EGFR exon 20 insertion (EGFRex20ins) mutation who achieved a complete response (CR) under treatment with poziotinib as part of the ZENITH20 trial. In January 2021, a former smoker 62-year-old female patient was diagnosed with relapse, after two surgeries and post-operative chemotherapy of mNSCLC, at liver and retroperitoneal nodes. Given the identification by Next Generation Sequencing (NGS) of EGFRex20ins mutation, she was enrolled in ZENITH20-cohort 5 trial, a phase 2 multicentre study aimed to assess the efficacy and safety of poziotinib in patients with EGFR or HER2 exon 20 insertion mutations. Poziotinib as first-line systemic therapy for metastatic disease was initiated at the end of January 2021 and administrated at the initial dosage of 8 mg orally twice daily (BID). The most common side effects from the beginning of the treatment included alopecia, macular skin rash, diarrhoea, xerostomia, and conjunctivitis. Due to these adverse events, poziotinib was discontinued during the first 3 months and then reduced to 6 mg orally BID in April 2021. After the dose de-escalation, the adverse events ameliorated, and the patient better tolerated the treatment without further interruption. Since the first reevaluation (after 4 weeks of therapy), the treatment with poziotinib resulted to be remarkably effective, with a partial response (PR) subsequently confirmed in May and July 2021. Then, in October 2021, a CT scan confirmed a CR, maintained with good tolerance at the last reevaluation in February 2022. Treatment is still ongoing at the same dosage. In this case, poziotinib has represented a successful and well-tolerated first-line treatment alternative to chemotherapy in this patient with EGFR exon 20 insertion mutated mNSCLC.
Case report: Aortoesophageal fistula-an extremely rare but life-threatening cardiovascular cause of hematemesis
Authors: Alexis Ching Wong, Yu-Mou Chou, Zhong Ning Leonard Goh, Kuang-Fu Chang, Chen-June Seak
Journal: Front Cardiovasc Med (2023)
Keywords: chiari's triad, aortoesophageal fistula, computed tomography angiography, emergency department, haematemesis, upper gastrointestinal bleeding
MeSH terms: Case Reports

Aortoesophageal fistula (AEF) is an extremely rare cardiovascular etiology of hematemesis and upper gastrointestinal bleeding. As such, its recognition and diagnosis are challenging and may be delayed when such patients present to the emergency department (ED). Without timely surgical intervention, AEF is almost always fatal. Awareness of AEF as a possible diagnosis and consequently early identification of these patients presenting to the ED are therefore crucial in optimizing clinical outcomes. We report a 45-year-old male presenting to the ED with the classical triad of an AEF (Chiari's triad)-midthoracic pain or dysphagia, a sentinel episode of minor hematemesis, then massive hematemesis with risk of exsanguination. The case report highlights the importance of considering the differential diagnosis of AEF when evaluating patients presenting to the ED with hematemesis, especially if they have predisposing risk factors such as prior aortic or esophageal surgeries, aortic aneurysms, or thoracic malignancies. Patients suspected of having AEF should be prioritized for early computed tomography angiography to expedite diagnosis and treatment.
Inflammatory Pseudotumor of the Mesentery
Authors: Jonas De Melio, Veerle Mertens, Stefaan Gryspeerdt
Journal: J Belg Soc Radiol (2021)
Keywords: abdominal radiology, ipt, epithelioid variant, inflammatory pseudotumor, mesentery
MeSH terms: Case Reports

Teaching point: An inflammatory pseudotumor can occur almost everywhere in the body and has nonspecific imaging findings.
Tailoring Immunotherapy Treatment of Synchronous Renal Cell Carcinoma (RCC) and Triple-Negative Breast Cancer (TNBC)
Authors: Iris Y Sheng, Megan Kruse, Kathryn M Leininger, Moshe C Ornstein
Journal: Case Rep Oncol Med (2019)
MeSH terms: Case Reports

Synchronous tumors are defined as two tumors arising concurrently or within six months of each other. Reports of synchronous RCC and breast cancer are limited to nonmetastatic renal cell carcinoma (RCC) and hormone receptor-positive infiltrative ductal carcinoma. We present the first case of synchronous metastatic renal cell carcinoma and metastatic triple-negative breast cancer, managed with a novel combination of immunotherapy and chemotherapy.