OpenMed/multicare-articles huggingface dataset:
A Case of Non-Small Cell Lung Cancer with Possible "Disease Flare" on Nivolumab Treatment
Authors: Shotaro Chubachi, Hiroyuki Yasuda, Hidehiro Irie, Koichi Fukunaga, Katsuhiko Naoki, Kenzo Soejima, Tomoko Betsuyaku
Journal: Case Rep Oncol Med (2016)
MeSH terms: Case Reports

Background. Recent clinical trials proven the clinically significant efficacy and tolerability of nivolumab, a programmed death 1 (PD-1) inhibitor, in previously treated patients with non-small cell lung cancer (NSCLC). Case Presentation. Here, we describe the case of a patient who experienced possible "disease flare" immediately after initiation of nivolumab treatment. A 54-year-old man was diagnosed with Stage IIB (T2N1M0) lung adenocarcinoma. After 7 years from recurrence, 10th line chemotherapy, nivolumab, was initiated. Six weeks later, after 3 cycles of nivolumab treatment, rapid lung cancer progression was observed with an increase in the size of the primary lesion, multiple novel nodules on both lungs, and multiple novel brain metastases. Conclusion. We believe that physicians should be made aware that, in a subset of NSCLC patients, disease flare might occur on nivolumab treatment.
Duplication cyst of pyloroduodenal canal: a rare cause of neonatal gastric outlet obstruction: a case report
Authors: Vijai D Upadhyaya, Punit K Srivastava, Richa Jaiman, Ajay N Gangopadhyay, Dinesh K Gupta, Shiv P Sharma
Journal: Cases J (2009)

Background:
A 21 day old male child presented with non bilious vomiting and abdominal mass.
Case presentation:
This case is reported because pyloroduodenal duplication cysts are an extremely rare congenital anomaly, whose clinical presentation often mimics those of hypertrophic pyloric stenosis. Ultrasound examination showed cystic mass at pyloric region and barium study was suggestive of extrinsic mass compressing the pyloric region. A laparotomy, a tense cystic mass was present at the pyloroduodenal junction (PDC) which was resected and end to end anastomosis was done. Patients followed an uneventful recovery and doing well.
Conclusion:
The clinical and radiological analysis can reveal configurational changes consistent with a large extrinsic mass rather than muscular hypertrophy and can lead to accurate preoperative diagnosis.
Dialysis catheter fibrin sheath stripping: a useful technique after failed catheter exchange
Authors: Af Mohamad Ali, E Uhwut, Sk Liew
Journal: Biomed Imaging Interv J (2012)
Keywords: ct, fine needle aspiration(fna), biopsy, lung lesion, pneumothorax
MeSH terms: Case Reports

Fibrin sheath formation around long-term haemodialysis catheter is a common cause of failed dialysis access. Treatment options include pharmacological and mechanical methods. This paper reports a case of failed dialysis access due to fibrin sheath encasement. Pharmacologic thrombolysis, mechanical disruption using guide wire and catheter exchange had failed to address the issue. Eventually, fibrin sheath stripping using the loop snare technique was able to successfully restore the catheter function.
Severe Case of Plasmodium falciparum Malaria in a Pregnant Woman from Nigeria
Authors: Kruti Yagnik, Bilal Farooqi, Molly W Mandernach, Anthony P Cannella, Gautam Kalyatanda
Journal: Case Rep Infect Dis (2019)
MeSH terms: Case Reports

Human malaria has arguably affected more of human history than any other pathogen. Pregnant women have a higher risk of developing severe malaria as well as the risk of severe complications. We present a case of severe malaria in a pregnant patient from sub-Saharan Africa who was treated successfully with artesunate. A 28-year-old Nigerian woman with a 20-week intrauterine pregnancy presented with a five-day history of fever and diffuse joint pains. Evaluation of peripheral thin blood smear demonstrated a parasitemia of 9.8%. The patient was admitted to the intensive care unit, and oral clindamycin/quinine was initiated until intravenous artesunate was obtained. The patient completed four doses of IV artesunate, and after the 4th dose of artesunate, no blood parasites were seen on peripheral smear. The patient was discharged home and, upon clinic follow-up, did not have any further complications associated with either her disease or therapy. A review on the treatment of severe malaria in all trimesters of pregnancy supports the WHO recommendation for intravenous artesunate as the drug of choice. This case illustrates the importance of recognizing malaria in pregnant women from endemic countries and shows that artesunate compounds can be used safely in pregnancy, particularly with high parasitemia.
PC Splice-Site Variant c.1825+5G>A Caused Intron Retention in a Patient With Pyruvate Carboxylase Deficiency: A Case Report
Authors: DongYing Tao, HuiQin Zhang, Jingmin Yang, HuanHong Niu, JingJing Zhang, Minghua Zeng, ShengQuan Cheng
Journal: Front Pediatr (2022)
Keywords: pc gene, c1825+5g>a, pathogenic variant, pyruvate carboxylase deficiency, splice-site variant
MeSH terms: Case Reports

Background:
Pyruvate carboxylase deficiency (PCD; MIM#266150) is a rare autosomal recessive disorder characterized by a wide range of clinical features, including delayed neurodevelopment, elevated pyruvate levels, lactic acidosis, elevated ketone levels, and hyperammonemia. The pyruvate carboxylase (PC) gene was identified to be the disease-causing gene for PCD. A novel homozygous splice variant in the PC gene was identified in a Chinese boy, but the pathogenicity is still unclear. The objective of the present study was to determine the effect of this splice-site variant by reverse transcription analysis.
Methods:
We reported the clinical course of a 20-month-old Chinese pediatric patient who was diagnosed with PCD using whole-exome sequencing (WES). The effects of the variant on mRNA splicing were analyzed through the transcript analysis in vivo.
Results:
The results of metabolic blood and urine screening suggested PCD by employing tandem mass spectrometry. WES revealed a novel homozygous splice-site variant (c.1825+5G>A) in the PC gene. in vivo transcript analysis indicated that the splice-site variant caused the retention of 192 bp of the intron.
Conclusion:
Thus, c.1825+5G>A was established as a pathogenic variant, thereby enriching the mutational spectrum of the PC gene and providing a basis for the genetic diagnosis of PCD.
A case of recurrent transient monocular visual loss after receiving sildenafil
Authors: Asaad Ghanem Ghanem
Journal: Case Rep Ophthalmol Med (2011)
MeSH terms: Case Reports

A 53-year-old man was attended to the Clinic Ophthalmic Center, Mansoura University, Egypt, with recurrent transient monocular visual loss after receiving sildenafil citrate (Viagra) for erectile dysfunction. Examination for possible risk factors revealed mild hypercholesterolemia. Family history showed that his father had suffered from bilateral nonarteritic anterior ischemic optic neuropathy (NAION). Physicians might look for arteriosclerotic risk factors and family history of NAION among predisposing risk factors before prescribing sildenafil erectile dysfunction drugs.
JC virus granule cell neuronopathy onset two months after chemotherapy for low-grade lymphoma
Authors: Kathryn B Holroyd, Elias S Sotirchos, Scott R DeBoer, Kelly A Mills, Scott D Newsome
Journal: Cerebellum Ataxias (2017)
Keywords: ataxia, cerebellar degeneration, granule cell neuronopathy, lymphoma, progressive multifocal leukoencephalopathy, rituximab
MeSH terms: Case Reports

Background:
Granule cell neuronopathy (GCN) is a rare disease caused by the JC virus, leading to degeneration of cerebellar granule cell neurons. Primarily described in patients with AIDS, it has also been diagnosed in patients with lymphoproliferative diseases and after long-term treatment with immune-suppressing medications such as natalizumab.
Case presentation:
A 69 year old woman presented with progressive ataxia which began 2 months after initiation of treatment for follicular low-grade B cell lymphoma with rituximab/bendamustine, and progressed for 2 years prior to admission. Extensive prior evaluation included MRI that showed atrophy of the cerebellum but normal CSF analysis and serum studies. Neurologic exam on admission was notable for severe appendicular ataxia and fatigable end-gaze direction-changing horizontal nystagmus. FDG-PET/CT scan was unremarkable and repeat lumbar puncture revealed 2 WBCs/mm3, 148 RBCs/mm3, glucose 70 mg/dL, protein 37.7 mg/dL and negative flow cytometry/cytopathology. Standard CSF JC virus PCR testing was negative, but ultrasensitive TaqMan real-time JC virus PCR testing was positive, consistent with JC virus-related GCN.
Conclusions:
Because of the diagnostic challenges in identifying GCN, a high threshold of suspicion should be maintained in patients with an immune-suppressing condition such as lymphoma or on immune-suppressing agents such as rituximab, even shortly after initiation of therapy.
Primary Burkitt lymphoma of the thyroid gland: case report of an exceptional type of thyroid neoplasm and review of the literature
Authors: Mohamed Allaoui, Ilias Benchafai, El Mehdi Mahtat, Safae Regragui, Adil Boudhas, Mustapha Azzakhmam, Mohammed Boukhechba, Abderrahmane Al Bouzidi, Mohamed Oukabli
Journal: BMC Clin Pathol (2016)
Keywords: burkitt lymphoma, chemotherapy, thyroid gland
MeSH terms: Case Reports

Background:
Primary thyroid lymphoma is an uncommon pathological entity that accounts for only 1 to 5 % of all thyroid malignancies. Primary Burkitt lymphoma of the thyroid gland is very rare. This article presents the first Moroccan case of a primary BL of the thyroid to be reported in the literature to date.
Case presentation:
We describe here a case of a 70-year-old male who developed a rapidly enlarging thyroid gland with progressive symptoms of compression. Core biopsy confirmed the diagnosis of Burkitt lymphoma. The patient died of septic shock, 2 weeks after the first cycle of appropriate therapeutic chemotherapy.
Conclusions:
This presentation emphasizes the importance of considering lymphoma when dealing with a thyroid mass, as its management is different from that of other thyroid pathologies, and affords an opportunity to review a very rare type of primary thyroid lymphoma.
Pediatric Isolated Sinonasal Schwannoma: A New Case Report and Literature Review
Authors: Xiao-Hui Ma, Hai-Chun Zhou, Can Lai, Kun Zhu, Xuan Jia
Journal: Case Rep Med (2016)

Schwannomas of the paranasal sinus are uncommon. Less than 4% of schwannomas involve the nasal cavity and paranasal sinuses, even less in the pediatric age group. A case of schwannoma arising in maxillary sinus in a 2.5-year-old Chinese boy is reported. The basis for discussion of this case is the exceptional rarity of sinonasal schwannoma in pediatric patients.
Atypical Sweet syndrome: skin sinus tracts in an acutely febrile patient after lymphoma treatment: a case report
Authors: Shi-Ying Lu, Hui-Fang Yang, Qing-Li Zeng, Peng Chen, Li Chen, Jing Gao, Xue-Kui Gu, Hai Lan, Man Luo
Journal: Front Immunol (2023)
Keywords: brentuximab vedotin, drug-induced sweet syndrome, granulocyte colony-stimulating factor, local sinus ulcer, systemic anaplastic large-cell lymphoma
MeSH terms: Fistula, Immunoconjugates / therapeutic use, Lymphoma, Large-Cell, Anaplastic / chemically induced, Lymphoma, Large-Cell, Anaplastic / drug therapy, Lymphoma, Large-Cell, Anaplastic / pathology, Sweet Syndrome / chemically induced, Sweet Syndrome / diagnosis, Sweet Syndrome / drug therapy, Case Reports, Brentuximab Vedotin / therapeutic use, Fever / drug therapy, Granulocyte Colony-Stimulating Factor, Humans, Male, Immunoconjugates, Brentuximab Vedotin, Granulocyte Colony-Stimulating Factor

Sweet syndrome (SS) is an uncommon inflammatory disease that involves painful skin, edematous, red papules, plaques, or nodules often accompanied by fever and leukocytosis. SS has three subtypes, including classical, malignant-tumor associated, and drug-induced SS (DISS). Patients with DISS have clear histories of recent drug exposure. The incidence of SS is high in hematological malignancy but rare in lymphomas. Glucocorticoid treatment is the recommended treatment for all subtypes of SS. This case study describes a male patient who had a history of sALCL(Systemic anaplastic large cell lymphoma) and was treated with multiple cycles of monoclonal-antibody (mAb) therapy. They also received the G-CSF injection at the site where skin lesions later developed. They met the diagnosis criteria for DISS, which was considered to be caused by the G-CSF injection. In addition, BV(Brentuximab vedotin) administration might predispose them to DISS. This case illustrates the first reported SS during the lymphoma treatment, with rare clinical presentations of local crater-like suppurative skin lesions. This case expands the available literature on SS and hematologic neoplasms and reminds clinicians to promptly recognize and diagnose SS to minimize patient morbidity and long-term sequelae.
Case Report: PAFAH1B1 Mutation and Posterior Band Heterotopia With Focal Temporal Lobe Epilepsy Treated by Responsive Neurostimulation
Authors: Frank G Gilliam, Paddy Ssentongo, Michael Sather, Yuka I Kawasawa
Journal: Front Neurol (2021)
Keywords: lis1 gene, pafah1b1, band heterotopia, responsive neurostimulation (rns), temporal lobe epilepsy
MeSH terms: Case Reports

Subcortical band heterotopia (SBH), also known as double cortex syndrome, is a malformation of cortical development caused by inherited or somatic gene variants. We present a case of a young adult with posterior SBH and electroclinical features of focal neocortical temporal lobe epilepsy. Genomic blood analysis identified a pathogenic somatic mosaicism duplication variant of the PAFAH1B1 gene. Despite bilateral cortical MRI abnormalities, the interictal and ictal EEG findings indicated a focal epileptogenic region in the left posterior temporal region. Chronic responsive cortical neurostimulation across two four-contact depth electrodes placed 5 mm on either side of the maximal interictal spiking identified during intraoperative electrocorticography resulted in a consistent 28% reduction in duration of electrographic seizures and as well as constricted propagation. Although electrographic seizures continued, the family reported no clinical seizures and a marked improvement in resistant behaviors. This observation supports that focal neocortical neuromodulation can control clinical seizures of consistently localized origin despite genetic etiology, bilateral structural brain abnormalities, and continuation of non-propagating electrographic seizures. We propose that a secondary somatic mutation may be the cause of the focal neocortical temporal lobe epilepsy.
Acute lymphoblastic leukemia with e1a3 BCR/ABL fusion protein. A report of two cases
Authors: Bernardo López-Andrade, Francesca Sartori, Antonio Gutiérrez, Lucia García, Vanesa Cunill, María Antonia Durán, Antonia Sampol, Marta Bernués, Julio Iglesias, Rafael Ramos, Josep Lladó, María Sánchez, Juan Carlos Amat, Jordi Martínez-Serra
Journal: Exp Hematol Oncol (2016)
MeSH terms: Case Reports

B Acute Lymphoblastic leukemia (B-ALL) with Philadelphia chromosome (Ph') is a neoplasm of lymphoblast committed to the B cell lineage. The clinical presentation of B-ALL Ph'+ is similar to B-ALL, but is more common in adults than in children. The e1a3 rare variant is produced by the fusion of BCR exon 1 to ABL exon 3. The presence of this translocation has been associated with good disease outcome for chronic myeloid leukemia in a very small series of only 5 cases; there is no such evidence for B-ALL. We report two new cases of B-ALL Ph+ with the rare e1a3 fusion transcript. The e1a3 and e1a2 (p190) transcripts have been reported to have a similar molecular weight and probably a similar clinical profile, thus in these cases the presence of e1a3 was associated with extramedullary infiltration and disease acceleration.
Subacute Hypophysitis with Panhypopituitarism as First Presentation of HIV and Syphilis Coinfection
Authors: Rute Alves, Margarida França
Journal: Case Rep Infect Dis (2017)
MeSH terms: Case Reports

Infection by Treponema pallidum still represents a clinical challenge due to its various forms of presentation. HIV coinfection added diversity and changed the natural history of syphilis as a systemic infection. We present a rare case of subacute hypophysitis and panhypopituitarism due to an early active neurosyphilis in a previously unknown HIV coinfected patient.
Case report: Insulin desensitization as the only option for managing insulin allergy in a Sudanese patient
Authors: Rihan Said, Rayan Goda, Ihab B Abdalrahman, Nahla H H Erwa
Journal: Front Allergy (2023)
Keywords: allergen immunotherapy, anaphylaxis, desensitization, insulin allergy, insulin desensitization
MeSH terms: Case Reports

Introduction:
Allergic reactions to insulin have become very rare with the introduction of human insulin. Anaphylaxis is a life-threatening condition that results from immediate IgE-mediated hypersensitivity. Desensitization to human insulin was reported to control immediate hypersensitivity reactions to insulin. Here, we describe the history and challenges of managing our patient and the development of an insulin desensitization protocol in a resource-limited setup.
Case summary:
A 42-year-old Sudanese woman with poorly controlled type 2 diabetes on maximum antidiabetic medications required insulin therapy to achieve reasonable glycemic control. She developed progressive and severe immediate hypersensitivity reactions to insulin, including anaphylaxis. Serum sample analysis demonstrated insulin-specific IgE antibodies. The patient's poor glycemic control and the need for breast surgery indicated insulin desensitization. A 4-day desensitization protocol was delivered in an ICU bed for close observation. Following successful desensitization and 24-h observation, our patient was discharged on pre-meal human insulin, which was tolerated well to the current date.
Conclusions:
Although insulin allergy is rare, once encountered, it is very challenging in patients who have no other treatment options available. Different protocols for insulin desensitization are described in the literature; the agreed protocol was implemented successfully in our patient despite the limited resources.
Chronic disease management in children based on the five domains of health
Authors: Wing Lung Alvin So
Journal: Case Rep Pediatr (2013)

Through a case study of a child with cystic fibrosis, the interactions among various domains of health have been discussed-namely, biomedical, physical, psychological/behavioural, and social. In pediatrics, development is another key domain relevant to the management of a chronic disease. An individualised management plan for this case has been outlined, and consideration of this framework may be worthwhile when managing other paediatric patients with chronic disease. Patient empowerment and parental education, as well as good co-ordination of health service delivery, are imperative to holistic patient care.
A case of fatal multidrug intoxication involving flualprazolam: distribution in body fluids and solid tissues
Authors: Arianna Giorgetti, Michaela J Sommer, Maurice Wilde, Markus Große Perdekamp, Volker Auwärter
Journal: Forensic Toxicol (2022)
Keywords: designer benzodiazepine, flualprazolam, lc–ms/ms, novel psychoactive substance (nps), standard addition method, triazolobenzodiazepine
MeSH terms: Body Fluids, Drug-Related Side Effects and Adverse Reactions, Case Reports, Alprazolam, Benzodiazepines, Humans, flualprazolam, Benzodiazepines, Alprazolam

Purpose:
Designer benzodiazepines (DBZDs) increasingly emerged on the novel psychoactive substance (NPS) market in the last few years. They are usually sold as readily available alternatives to prescription benzodiazepines (BZDs) or added to counterfeit medicines. BZDs are generally considered relatively safe drugs due to the low risk of serious acute adverse effects in mono-intoxication, though e.g., alprazolam seems to display an elevated risk of respiratory depression. Here we report on a fatal intoxication involving the novel DBZD flualprazolam.
Methods:
A complete postmortem examination was performed. General unknown screenings and analysis of drugs of abuse were performed on postmortem samples by immunoassay, gas chromatography-mass spectrometry and liquid chromatography-mass spectrometry. The standard addition method was employed to quantify flualprazolam in postmortem blood and tissues. Finally, a toxicological significance score (TSS) was assigned.
Results:
Flualprazolam was detected in heart serum (25.4 ng/mL) and peripheral blood (21.9 ng/mL) as well as in urine, stomach contents, brain, liver and kidney (65.2-323 ng/g). The cause of death was deemed as central nervous system (CNS) and respiratory depression with agonal aspiration of stomach contents, in the setting of a multiple drug intake. Given the concentration levels of the co-consumed CNS depressants, the contribution of flualprazolam to the death was considered likely (TSS of 3).
Conclusions:
Our results support that highly potent DBZDs like flualprazolam carry an elevated risk for unintended toxicity, especially in association with other CNS depressants. A multidisciplinary evaluation of fatalities remains mandatory, especially when pharmacological/toxicological data on intoxicating compounds are lacking. To our knowledge this is the first report of flualprazolam concentrations in solid tissues in human.
Primary intestinal lymphangiectasia diagnosed by double-balloon enteroscopy and treated by medium-chain triglycerides: a case report
Authors: Yu Lai, Tao Yu, Xiao-Yu Qiao, Li-Na Zhao, Qi-Kui Chen
Journal: J Med Case Rep (2013)

Introduction:
Primary intestinal lymphangiectasia is a disorder characterized by exudative enteropathy resulting from morphologic abnormalities of the intestinal lymphatics. Intestinal lymphangiectasia can be primary or secondary, so the diagnosis of primary intestinal lymphangiectasia must first exclude the possibility of secondary intestinal lymphangiectasia. A double-balloon enteroscopy and biopsy, as well as the pathology can be used to confirm the diagnosis of intestinal lymphangiectasia. A polymeric diet containing medium-chain triglycerides and total parenteral nutrition may be a useful therapy.
Case presentation:
A 17-year-old girl of Mongoloid ethnicity was admitted to our hospital with a history of diarrhea and edema. She was diagnosed with protein-losing enteropathy caused by intestinal lymphangiectasia. This was confirmed by a double-balloon enteroscopy and multi-dot biopsy. After treatment with total parenteral nutrition in hospital, which was followed by a low-fat and medium-chain triglyceride diet at home, she was totally relieved of her symptoms.
Conclusion:
Intestinal lymphangiectasia can be diagnosed with a double-balloon enteroscopy and multi-dot biopsy, as well as the pathology of small intestinal tissue showing edema of the submucosa and lymphangiectasia. Because intestinal lymphangiectasia can be primary or secondary, the diagnosis of primary intestinal lymphangiectasia must first exclude the possibility of secondary intestinal lymphangiectasia. A positive clinical response to the special diet therapy, namely a low-fat and medium-chain triglyceride diet, can further confirm the diagnosis of primary intestinal lymphangiectasia.
Acquired Perforating Dermatosis in a Patient on Peritoneal Dialysis: A Case Report and Review of the Literature
Authors: Talha H Imam, Hassan Patail, Nabeela Khan, Phillip T Hsu, David S Cassarino
Journal: Case Rep Nephrol (2018)
MeSH terms: Case Reports

Acquired perforating dermatosis (APD) is a debilitating and itchy skin disease. Its diagnosis is based on biopsy and the treatment is not very clear. It is not well established as to how wide spread it is in patients on peritoneal dialysis (PD) and its implications in this population have not been well studied. Here we present a case of APD that developed in a patient on PD. Its pathology and treatment options are reviewed. More studies are needed to assess the prevalence of APD in PD population.