OpenMed/multicare-articles huggingface dataset:
Acanthosis nigricans associated with morbid obesity and colorectal adenocarcinoma
Authors: J Li, A Yazdabadi, R Sinclair
Journal: Case Rep Dermatol Med (2012)
MeSH terms: Case Reports

We report a case of a morbidly obese 32-year-old man presenting with acanthosis nigricans in the setting of Duke's B adenocarcinoma of the hepatic flexure.
Large Bowel Endometriosis Mimicking Colorectal Cancer
Authors: Laís Marques Mota, Bruno Salomão Hirsch, Renato Seligman
Journal: Case Rep Med (2020)
MeSH terms: Case Reports

Endometriosis is characterized by the presence of endometrial tissue outside the uterus, with 1-7% prevalence in the female population. It is observed in various locations of the human body, and large bowel endometriosis is the most common extrapelvic site, affecting about 5 to 12% of all women who present endometriosis. This study aimed to report an interesting images related to stenosing large bowel endometriosis that was possible to be diagnosed only by surgical intervention. Hence, this pathology is a diagnostic challenge and should be remembered between differential diagnoses of nonspecific or even alarming symptoms of the gastrointestinal tract.
Case report: Oligodendroglioma, IDH-mutant and 1p/19q-codeleted, associated with a germline mutation in PMS2
Authors: Mythili Merchant, Margarita Raygada, Ying Pang, Martha Quezado, Mark Raffeld, Liqiang Xi, Jung Kim, Manoj Tyagi, Zied Abdullaev, Olga Kim, Zach Sergi, Tina Pillai, Byram Ozer, Kareem Zaghloul, John D Heiss, Terri S Armstrong, Mark R Gilbert, Kenneth Aldape, Jing Wu
Journal: Front Oncol (2022)
Keywords: cns, idh-mutant and 1p/19q-codeleted, pms2, lynch syndrome, oligodendroglioma
MeSH terms: Case Reports

Most tumors, including brain tumors, are sporadic. However, a small subset of CNS tumors are associated with hereditary cancer conditions like Lynch Syndrome (LS). Here, we present a case of an oligodendroglioma, IDH-mutant and 1p/19q-codeleted, and LS with a germline pathogenic PMS2 mutation. To our knowledge, this has only been reported in a few cases in the literature. While the family history is less typical of LS, previous studies have indicated the absence of a significant family history in patient cohorts with PMS2 mutations due to its low penetrance. Notably, only a handful of studies have worked on characterizing PMS2 mutations in LS, and even fewer have looked at these mutations in the context of brain tumor development. This report aims to add to the limited literature on germline PMS2 mutations and oligodendrogliomas. It highlights the importance of genetic testing in neuro-oncology.
Case Report: Successful Repair of Primary Aortoesophageal Fistula With an Endovascular Stent Graft and an Esophageal Stent
Authors: Zhi-Wei Wu, Yong-Dong Yao, Yi-Ming Li
Journal: Front Surg (2022)
Keywords: aortoesophageal fistula, case report, endovascular stent, esophageal stent, treatment
MeSH terms: Case Reports

Aortoesophageal fistula (AEF), secondary to thoracic pseudoaneurysm as a result of upper gastrointestinal bleeding, is a rare condition and will be undoubtedly lethal without prompt surgical intervention. The estimated annual incidence of primary AEFs and secondary AEFs is about 0.0015% and 0.6%-2%, respectively. The challenges of the therapy posed by AEF are control of the hemorrhage, arterial reconstruction in an infection field, control of sepsis, and re-establishment of the alimentary tract. We present a case of a 58-year-old man who suffered from chest pain and hematemesis and was finally diagnosed with pAEF caused by descending thoracic pseudoaneurysm. Our team successfully deployed an endovascular stent graft and esophageal stent to seal ruptured thoracic aorta and esophageal defects, which provided a new surgical strategy for aortoesophageal fistula in the endovascular era.
Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy
Authors: Spatikha Sitaram, Hetalika C Banka, Grace Vassallo, Julija Pavaine, Adele Fairclough, Ronnie Wright, Lynette Fairbanks, Jörgen Bierau, Lydia Bowden, Bernd Schwahn, Alistair Horman, Siddharth Banka
Journal: Am J Med Genet A (2023)
Keywords: adenylosuccinate lyase, molecular autopsy, reverse phenotyping
MeSH terms: Adenylosuccinate Lyase / genetics, Autistic Disorder, Purine-Pyrimidine Metabolism, Inborn Errors / genetics, Case Reports, Autopsy, Child, Humans, Infant, Infant, Newborn, Adenylosuccinate Lyase, Adenylosuccinate lyase deficiency

Adenylosuccinase deficiency is a rare inborn error of metabolism. We present a newborn who died at 52 days of age with clinical features suggestive of severe epileptic encephalopathy and leukodystrophy of unknown cause. Post-mortem examination showed an unusual vacuolar appearance of the brain. A molecular autopsy performed via singleton clinical exome analysis revealed a known pathogenic and a variant of uncertain significance in ADSL that encodes adenylosuccinase. Tests on previously stored plasma samples showed elevated succinyladenosine and succinylaminoimidazole carboxamide riboside levels. Adenylosuccinase activity in stored fibroblasts was only ~5% of control confirming the diagnosis of adenylosuccinase deficiency in the child. The parents opted for a chorionic villus biopsy in a subsequent pregnancy and had a child unaffected by adenylosuccinase deficiency. This report adds vacuolating leukodystrophy as a novel feature of adenylosuccinase deficiency and shows the power of biochemical investigations directed by genomic studies to achieve accurate diagnosis. Importantly, this case demonstrates the importance of anticipatory banking of biological samples for reverse biochemical phenotyping in individuals with undiagnosed disorders who may not survive.
Case Report: A Novel Non-Canonical Splice Site Variant (c.1638+7T>C) in TRPM6 Cause Primary Homagnesemia With Secondary Hocalcemia
Authors: Jiayu Song, Juan Lei, Jianxia Zhang, Aiqing Zhang, Weihua Gan, Bixia Zheng, Chunli Wang, Jing Gong
Journal: Front Pediatr (2022)
Keywords: trpm6 gene, abnormal mrna splicing, primary hypomagnesemia, secondary hypocalcemia, variant
MeSH terms: Case Reports

Objective:
Primary hypomagnesemia with secondary hypocalcemia (HSH) is caused by loss-of-function mutations in the TRPM6 gene encoding the epithelial magnesium channel. It is characterized by hypomagnesemia and secondary hypocalcemia associated with neurological symptoms. Here, we aimed to investigate the genetic defects of the TRPM6 gene found in a girl from China.
Methods:
The genomic DNA of the proband and the parents was extracted for whole-exome sequencing. Sanger sequencing was further performed to validate the candidate variants. Subsequently, the TRPM6 gene deletion was verified by quantitative PCR (qPCR) experiment. The effect of the variant on mRNA splicing was analyzed through a minigene splice assay and reverse transcription PCR (RT-PCR) in vitro.
Results:
The proband presented with the symptoms of generalized seizures, tetany, and muscle spasms, which were refractory to anticonvulsant treatment. Phenotypic data indicated that the patient had hypomagnesemia, poor parathyroid hormone response, and resultant hypocalcemia. The trio whole-exome sequencing identified that the proband carried compound heterozygous variants in the TRPM6 gene, a paternally derived exon 6 deletion, and a maternally derived splicing variant (c.1638+7T>C) in exon 14. The minigene splice assay confirmed that the c.1638+7T>C variant resulted in exon 14 skipping, which caused the alteration of TRPM6 mRNA splicing.
Conclusion:
Our results support that the compound heterozygous variants in TRPM6 are responsible for HSH in this patient. A novel pathogenic splicing variant (c.1638+7T>C) in the intron 14 disturbs the normal TRPM6 mRNA splicing, suggesting that the non-classical splice variant plays a critical role in HSH. This variant is essential for future effective genetic diagnosis.
Electrohydraulic lithotripsy through endoscopic retrograde cholangiopancreatography combined with SpyGlass in the treatment of complex pancreatic duct stones: A case report and literature review
Authors: Weigao Pu, Chenhui Ma, Bofang Wang, Yunpeng Wang, Haiyun Wang, Bo Xu, Puyi He, Hongbin Cui, Hao Chen
Journal: Front Surg (2023)
Keywords: spyglass, electrohydraulic lithotripsy, endoscopic retrograde cholangiopancreatography, pancreatic duct stones, pancreatitis

The incidence of pancreatic duct stones (PDS) is less than 1%. After the formation of stones, the lumen of the pancreatic duct is blocked, and the pancreatic juice cannot be discharged smoothly, resulting in the impairment of the internal and external secretions of the pancreas. Several national guidelines now recommend endoscopic retrograde cholangiopancreatography (ERCP) as the treatment for PDS. The emergence of SpyGlass makes it possible to visualize the ERCP blind area of the pancreatic system directly. Electrohydraulic lithotripsy (EHL) under SpyGlass can crush large and pressure-resistant stones into smaller fragments, significantly improving the success of the endoscopic treatment of large stones. Here, we report a patient presented with acute alcohol-associated pancreatitis, found to have PDS on imaging, who underwent ERCP combined with SpyGlass (EHL), avoiding surgery, reducing trauma, and being discharged from the hospital with a rapid recovery. Therefore, endoscopic therapy is effective and safe for PDS patients. The combination therapy of this patient is the first use of SpyGlass for PDS in our centre, which marks a new stage in the application of endoscopic therapy for pancreatic diseases.
Hallucination in a seizure patient using levetiracetam: a case report
Authors: D R Shakya, A Dutta, R Gautam
Journal: Case Rep Med (2012)

Levetiracetam, a relatively new antiepileptic drug (AED), is used mainly as adjuvant and less as monotherapy of seizure. Though rare, Levetiracetam is reported to induce hallucination. To highlight the potential of this adverse drug event, we report a seizure-case that had auditory hallucination with Levetiracetam. A 32-year lady had 7-year history of unresponsive spells which increased in the last year, also occurred while asleep and were diagnosed as "generalized seizure" with video-EEG. With gradual optimization of Levetiracetam to 2250 mg, she continuously heard distressing sound of saw cutting wooden blocks. After 3-day continuous auditory hallucination, Levetiracetam had to be changed to sodium valproate.
Type 1 Kounis Syndrome in Patient with Idiopathic Anaphylaxis
Authors: Tajda Keber, Jana Makuc, Gregor Sekavčnik
Journal: Case Rep Cardiol (2017)
MeSH terms: Case Reports

Kounis syndrome represents the concurrence of acute coronary syndromes or anginal pain with allergic, hypersensitivity, and anaphylactic reactions. It can be associated with normal coronary angiogram or preexistent coronary pathology. Idiopathic anaphylaxis is defined as anaphylaxis without any identifiable precipitating agent or event. We present a case of male who experienced attacks of dyspnoea, hypoxemia, hypotension, purple-red skin, and chest pain over several years. He was diagnosed with idiopathic anaphylaxis. Based on the pattern of chest pain of ischemic origin during the attacks he was retrospectively diagnosed with Kounis syndrome.
Case report: Efficacy and safety of regorafenib plus fluorouracil combination therapy in the treatment of refractory metastatic colorectal cancer
Authors: Emaan Haque, Ibrahim N Muhsen, Abdullah Esmail, Godsfavour Umoru, Charisma Mylavarapu, Veronica B Ajewole, Maen Abdelrahim
Journal: Front Oncol (2022)
Keywords: 5-fu, crc, fluorouracil (3385), metastatic colorectal cancer, regorafenib
MeSH terms: Case Reports

Background:
More than half of patients with colorectal cancer (CRC) present with metastatic disease or develop recurrent disease on first-line and second-line options. Treatment beyond the second line remains an area of unmet need for patients with progressive or recurrent disease.
Methods:
We retrospectively reviewed data of adult (>18 years old) patients with mCRC who received regorafenib + 5FU combination therapy at Houston Methodist Hospital with outcomes of interest including response rate, discontinuation due to side effects, and overall survival.
Results:
Seven patients received regorafenib + 5FU combination therapy for mCRC after receiving at least two other lines of therapy (including at least one fluorouracil-based therapy). Four patients (57%) achieved disease control in 7-12 weeks after therapy initiation while three patients developed recurrent disease. In patients who achieved disease control, no new adverse events were reported among patients with this combination.
Conclusion:
Regorafenib and Fluorouracil combination could be considered an option beyond the second line for patients with treatment-refractory metastatic colorectal cancer. Further studies, including a prospective trial, are needed to investigate the efficacy and safety of regorafenib plus 5FU therapy compared to other limited available therapies.
Development of a Computer-Aided Design and Finite Element Analysis Combined Method for Affordable Spine Surgical Navigation With 3D-Printed Customized Template
Authors: Peter Endre Eltes, Marton Bartos, Benjamin Hajnal, Agoston Jakab Pokorni, Laszlo Kiss, Damien Lacroix, Peter Pal Varga, Aron Lazary
Journal: Front Surg (2021)
Keywords: 3d printing, computed tomography, finite element simulation, navigation, spine surgery, surgical guidance/navigation

Introduction: Revision surgery of a previous lumbosacral non-union is highly challenging, especially in case of complications, such as a broken screw at the first sacral level (S1). Here, we propose the implementation of a new method based on the CT scan of a clinical case using 3D reconstruction, combined with finite element analysis (FEA), computer-assisted design (CAD), and 3D-printing technology to provide accurate surgical navigation to aid the surgeon in performing the optimal surgical technique by inserting a pedicle screw at the S1 level. Materials and Methods: A step-by-step approach was developed and performed as follows: (1) Quantitative CT based patient-specific FE model of the sacrum was created. (2) The CAD model of the pedicle screw was inserted into the sacrum model in a bicortical convergent and a monocortical divergent position, by overcoming the geometrical difficulty caused by the broken screw. (3) Static FEAs (Abaqus, Dassault Systemes) were performed using 500 N tensile load applied to the screw head. (4) A template with two screw guiding structures for the sacrum was designed and manufactured using CAD design and 3D-printing technologies, and investment casting. (5) The proposed surgical technique was performed on the patient-specific physical model created with the FDM printing technology. The patient-specific model was CT scanned and a comparison with the virtual plan was performed to evaluate the template accuracy Results: FEA results proved that the modified bicortical convergent insertion is stiffer (6,617.23 N/mm) compared to monocortical divergent placement (2,989.07 N/mm). The final template was created via investment casting from cobalt-chrome. The template design concept was shown to be accurate (grade A, Gertzbein-Robbins scale) based on the comparison of the simulated surgery using the patient-specific physical model and the 3D virtual surgical plan. Conclusion: Compared to the conventional surgical navigation techniques, the presented method allows the consideration of the patient-specific biomechanical parameters; is more affordable, and the intraoperative X-ray exposure can be reduced. This new patient- and condition-specific approach may be widely used in revision spine surgeries or in challenging primary cases after its further clinical validation.
Fifty-Two-Week Results of Clinical and Imaging Assessments of a Patient with Rheumatoid Arthritis Complicated by Systemic Sclerosis with Interstitial Pneumonia and Type 1 Diabetes despite Multiple Disease-Modifying Antirheumatic Drug Therapy That Was Successfully Treated with Baricitinib: A Novel Case Report
Authors: Yuya Fujita, Masao Nawata, Atsushi Nagayasu, Kazuki Someya, Kazuyoshi Saito, Yoshiya Tanaka
Journal: Case Rep Rheumatol (2019)
MeSH terms: Case Reports

Baricitinib is a Janus kinase 1/2 (JAK1/2) inhibitor used in the treatment of rheumatoid arthritis. A 71-year-old woman with rheumatoid arthritis complicated by systemic sclerosis and type 1 diabetes that were resistant to multiple disease-modifying antirheumatic drugs started treatment with baricitinib. After baricitinib administration, the disease activity of her rheumatoid arthritis was attenuated from the early stage of treatment, and the effect was maintained for up to 52 weeks. In addition, the skin sclerosis in systemic sclerosis showed an improvement. Regarding the influence on type 1 diabetes, the required daily dose of insulin and hemoglobin A1c (HbA1c) levels decreased. To date, no studies have demonstrated the effectiveness of baricitinib on systemic sclerosis or type 1 diabetes. We report that baricitinib was effective for systemic sclerosis and type 1 diabetes, as well as for rheumatoid arthritis, for up to 52 weeks.
Small cell neuroendocrine tumour of the endometrium and the importance of pathologic diagnosis
Authors: Adriana Estruch, Lucas Minig, Carmen Illueca, Ignacio Romero, Jose Luis Guinot, Andrés Poveda
Journal: Ecancermedicalscience (2016)
Keywords: endometrial cancer, endometrium, pathology diagnosis, small neuroendocrine tumour
MeSH terms: Case Reports

Small cell carcinoma of the endometrium is a very rare entity. They are very aggressive tumours, with a poor prognosis. They represent a clinical challenge because of a lack of a standardised treatment. We see here a case of a 67-year-old woman with a history of a lobular breast carcinoma, diagnosed in 2002. After presenting with postmenopausal vaginal bleeding in October 2014, she underwent a hysteroscopy-guided biopsy which revealed a metastasis of breast carcinoma. A hysterectomy and bilateral oophorectomy was performed because of uncontrolled uterine bleeding. The pathologic diagnosis was small cell carcinoma (SCC) of the endometrium. A surgical complete cytoreduction was achieved after the case being presented in a multidisciplinary tumour board. Pathologic results revealed metastasis from peritoneal implants of SCC on the endometrium, and metastasis in pelvic and para-aortic lymph nodes from serous carcinoma of the endometrium. A total of four cycles of adjuvant chemotherapy based on cisplatin (80mg/m² day one) and etoposide (100mg/m² day one, two, three) every 21 days was given. The patient experienced persistent disease and died 17 months after the diagnosis. SCC of the endometrium is a very rare and aggressive disease that requires an individualised multidisciplinary management.
Impossible airway requiring venovenous bypass for tracheostomy
Authors: Johnathan Gardes, Tracey Straker
Journal: Case Rep Anesthesiol (2012)

The elective surgical airway is the definitive management for a tracheal stenotic lesion that is not a candidate for tracheal resection, or who has failed multiple-tracheal dilations. This case report details the management of a patient who has failed an elective awake tracheostomy secondary to the inability to be intubated as well as severe scar tissue at the surgical site. A combination of regional anesthesia and venovenous bypass is used to facilitate the surgical airway management of this patient. Cerebral oximetry and a multidisciplinary team approach aid in early detection of an oxygenation issue, as well as the emergent intervention that preserved this patient's life.
Acute hepatic failure as a leading manifestation in exertional heat stroke
Authors: Qi Jin, Erzhen Chen, Jie Jiang, Yiming Lu
Journal: Case Rep Crit Care (2012)

Background. Acute hepatic failure (AHF) is uncommon as a leading symptom in patients with exertional heat stroke (EHS). Which stage to perform the liver transplantation for severe hepatic failure in EHS is still obscure at clinical setting. The conservative management has been reported to be successful in treating heat-stroke-associated AHF even in the presence of accepted criteria for emergency liver transplantation. Case Presentation. Here, we reported a 35-year-old male who presented with very high transaminases, hyperbilirubinemia, significant prolongation of the prothrombin time, and coma. No other causes for AHF could be identified but physical exhaustion and hyperthermia. Although the current patient fulfilled London criteria for emergency liver transplantation, he spontaneously recovered under conservative treatment including intravenous fluids, cooling, diuretics as mannitol, and hepatocyte growth-promoting factors. Conclusions. Meticulous supportive management could be justified in some selected cases of AHF due to EHS.
Hereditary neuropathy with liability to pressure palsy: a recurrent and bilateral foot drop case report
Authors: Filipa Flor-de-Lima, Liliana Macedo, Ricardo Taipa, Manuel Melo-Pires, Maria Lurdes Rodrigues
Journal: Case Rep Pediatr (2013)

Hereditary neuropathy with liability to pressure palsy is characterized by acute, painless, recurrent mononeuropathies secondary to minor trauma or compression. A 16-year-old boy had the first episode of right foot drop after minor motorcycle accident. Electromyography revealed conduction block and slowing velocity conduction of the right deep peroneal nerve at the fibular head. After motor rehabilitation, he fully recovered. Six months later he had the second episode of foot drop in the opposite site after prolonged squatting position. Electromyography revealed sensorimotor polyneuropathy of left peroneal, sural, posterior tibial, and deep peroneal nerves and also of ulnar, radial, and median nerves of both upper limbs. Histological examination revealed sensory nerve demyelination and focal thickenings of myelin fibers. The diagnosis of hereditary neuropathy with liability to pressure palsy was confirmed by PMP22 deletion of chromosome 17p11.2. He started motor rehabilitation and avoidance of stressing factors with progressive recovery. After one-year followup, he was completely asymptomatic. Recurrent bilateral foot drop history, "sausage-like" swellings of myelin in histological examination, and the results of electromyography led the authors to consider the diagnosis despite negative family history. The authors highlight this rare disease in pediatric population and the importance of high index of clinical suspicion for its diagnosis.