OpenMed/multicare-articles huggingface dataset:
An unusual case of colon vascularization by the inferior mesenteric artery
Authors: Serghei Covanțev, Natalia Mazuruc, Olga Belic
Journal: J Vasc Bras (2017)
Keywords: accessory left colic artery, accessory middle colic artery, inferior mesenteric artery variation
MeSH terms: Case Reports

In this article we present a rare variant in which the large intestine was vascularized by the inferior mesenteric artery. It was encountered during macro and microscopic dissection of the cadaver of a 63-year-old woman at a university department of human anatomy. In this case, the ascending, transverse, descending, and sigmoid colon and rectum were vascularized by the inferior mesenteric artery, whereas the small intestine, cecum and appendix were supplied by the superior mesenteric artery.
Thumb reconstruction by "on-top-plasty" of the long finger
Authors: Mark A Greyson, Sarah Kinsley, Simon G Talbot
Journal: Case Reports Plast Surg Hand Surg (2021)
Keywords: thumb, amputation, pollicization, reconstruction, ‘on-top’ plasty
MeSH terms: Case Reports

A 61 year old man sustained electrical burns to hands requiring amputation of the right thumb and index finger at the metacarpophalangeal level. The thumb was reconstructed by means of on-top-plasty of the long finger. This is a reliable and safe technique in selected patients with severe, traumatic hand injuries.
Appendiceal Intussusception Secondary to Endometriosis: A Rare Etiology of Right Lower Quadrant Abdominal Pain
Authors: Cedric Trefois, Emmanuel Coche
Journal: J Belg Soc Radiol (2022)
Keywords: appendiceal intussusception, appendix, computed tomography, endometriosis, invagination, ultrasonography
MeSH terms: Case Reports

Teaching Point: Appendiceal intussusception appears as a "sausage or target shaped" lesion in the caecal lumen and may be caused by a "lead point".
Case report: A novel reciprocal ROS1-CD74 fusion in a NSCLC patient partially benefited from sequential tyrosine kinase inhibitors treatment
Authors: Xugang Zhang, Baoming Wang, Chunyang Wang, Chengde Liao, Shiping Wang, Ran Cao, Tonghui Ma, Kun Wang
Journal: Front Oncol (2022)
Keywords: ngs, ros1, inhibitor, sequencing, sequential detection
MeSH terms: Case Reports

Background:
The clinical significance of majority oncogenic novel fusions is still unknown due to scarcity. Reciprocal ROS1 translocation is a rare form of ROS1 fusion and has not yet been clearly analyzed.
Case presentation:
A 44-year-old Chinese woman with a large dimension in the left lobe of the lung was admitted to the hospital with IVB lung adenocarcinoma. It was discovered that intron 28 of ROS1 and intron 6 of CD74 produced a unique reciprocal ROS1 rearrangement. In addition, the dual CD74-ROS1 fusions were discovered using the RNA next-generation sequencing (NGS) findings. Although benefiting from crizotinib and lorlatinib sequential treatment, the overall prognosis of the patient was relatively poor, whose progression-free survival was 4 and 5 months for crizotinib treatment and lorlatinib treatment, respectively.
Conclusion:
In summary, a novel ROS1-CD74 fusion identified by DNA NGS was translated into dual CD74-ROS1 transcripts. Furthermore, this patient with non-small cell lung cancer benefited from consecutive tyrosine kinase inhibitor therapy. Our discovery broadened the range of targetable ROS1 fusions and underlined the importance of sequential DNA and RNA sequencing in identifying uncommon but beneficial fusions, which eventually bring benefits to the patients.
Whole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA Depletion
Authors: Justin Kurtz, Joseph Americo Fernandes Jr, Mahesh Mansukhani, William C Copeland, Ali B Naini
Journal: Case Rep Genet (2021)
MeSH terms: Case Reports

Mitochondrial DNA (mtDNA) depletion syndromes are a group of autosomal recessive disorders associated with a spectrum of clinical diseases, which include progressive external ophthalmoplegia (PEO). They are caused by variants in nuclear DNA (nDNA) encoded genes, and the gene that encodes for mtDNA polymerase gamma (POLG) is commonly involved. A splice-site mutation in POLG, c.3104+3A > T, was previously identified in three families with findings of PEO, and studies demonstrated this variant to result in skipping of exon 19. Here, we report a 57-year-old female who presented with ophthalmoplegia, ptosis, muscle weakness, and exercise intolerance with a subsequent muscle biopsy demonstrating mitochondrial myopathy on histopathologic evaluation and multiple mtDNA deletions by southern blot analysis. Whole-exome sequencing identified the previously characterized c. 3104+3A > T splice-site mutation in compound heterozygosity with a novel frameshift variant, p.Gly23Serfs ∗ 236 (c.67_88del). mtDNA copy number analysis performed on the patient's muscle showed mtDNA depletion, as expected in a patient with biallelic pathogenic mutations in POLG. This is the first reported case with POLG p.Gly23Serfs ∗ 236, discovered in a patient presenting with features of PEO.
Unsuspected Diagnosis of Uterine Leiomyosarcoma after Laparoscopic Myomectomy in an Isolated Bag
Authors: Süleyman Salman, Fatma Ketenci Gencer, Bülent Babaoğlu, Melih Bestel, Serkan Kumbasar, Guray Tuna, Esra Güzel, Durkadın Elif Yıldız, Tuba Kotancı, Ali Selçuk Yeniocak, Özlem Sögüt
Journal: Case Rep Obstet Gynecol (2018)
MeSH terms: Case Reports

Minimally invasive techniques are generally applied for patients suspected of having benign fibroids if medical treatment is insufficient. On the other hand, sometimes some occult carcinomas of uterus like leiomyosarcomas may be reported for the patients' applied morcellation. This condition is rare but outcomes are clinically significant. Fragmentation of occult sarcoma in the abdominal cavity without isolation bag results in widespread and poor survival. In this article, we report a case of 37-year-old woman suffering from pain due to unexpected leiomyosarcoma. Laparoscopic myomectomy was performed with power morcellation in an isolated bag. Although isolation bag is generally reported to be preventive, recurrence of sarcoma was seen at 5th month of follow-up. Even though morcellation within a bag seems to block wide spreading, dispersion of tumor cannot be stopped and more investigations have to be done.
Palbociclib in breast cancer neoadjuvant setting
Authors: Sílvia Alexandra Cabral Duarte, Daniela Silva Pádua de Azevedo, Teresa Tomé Ribeiro Malheiro Sarmento, Marta Verónica Velho Sousa
Journal: Autops Case Rep (2021)
Keywords: breast neoplasms, case reports, cyclin-dependent kinase 4, cyclin-dependent kinase 6
MeSH terms: Case Reports

Cyclin-dependent kinase 4/6 inhibitors represent a major advance in breast cancer treatment, emerging as the standard of care of the initial treatment of hormone receptor-positive and HER2-negative metastatic breast cancer. Their activity in this subset of patients leads to interest in their use in the adjuvant and neoadjuvant settings. This case report presents a real-life case of cyclin-dependent kinase 4/6 inhibitors use in a patient initially considered to have stage IV luminal HER2-negative breast cancer with liver metastasis. The discrepancy of treatment response between the breast tumor and liver node led to a repetition of the liver biopsy, which revealed metastasis of a neuroendocrine tumor of unknown primary. The breast tumor showed a partial response, and the initial therapeutic strategy was then redefined for curative intent. While cyclin-dependent kinase 4/6 inhibitors are not yet approved for clinical practice in the neo / adjuvant treatment of hormone receptor-positive breast cancer, this case report portrays a successful example of its application in a neoadjuvant setting.
Squamous Cell Carcinoma Developing in a Buccal Mucosa Graft after Urethroplasty: A Report of 2 Cases of Malignant Degeneration
Authors: Catti Massimo, Nappo Gerocarni Simona, Tadini Barbara, Cerchia Elisa, Ferrero Luisa, Gambella Alessandro, Pacchioni Donatella, Elisabetta Teruzzi, Marco Falcone, Sedigh Omidreza, Gontero Paolo
Journal: Case Rep Urol (2021)
MeSH terms: Case Reports

Buccal mucosa graft (BMG) was originally described in 1992 for the treatment of challenging cases of hypospadias (proximal or redo cases) and has gained increasingly popularity also when dealing with complicated urethral stenosis, as it is associated with a good outcome. The development of a malignancy in a BMG urethroplasty was reported for the first time in 2017. We report two more cases of a malignant degeneration of a BMG used in a urethroplasty to treat recurrent urethral stricture.
Dental and Maxillofacial Manifestations of Axenfeld-Rieger Syndrome: Presentation of a Case in a 5-Year-Old Girl
Authors: Carlos-Martín Ardila, Efraín Álvarez-Martínez
Journal: Case Rep Dent (2022)
MeSH terms: Case Reports

In this case study, the dental and maxillofacial manifestations of a 5-year-old girl with Axenfeld-Rieger syndrome (ARS) are described. This syndrome is characterized by craniomaxillofacial, ocular, dental, and umbilical disorders. The patient presented ocular dyscoria and corectopia, iris abnormalities, midface hypoplasia with a thin upper lip, and a protruded lower lip. Hyperplastic maxillary labial frenulum, oligodontia, ghost teeth, bilateral Class III molar and canine relationship, and right posterior crossbite were also found. An everted umbilicus with redundant periumbilical skin was evident. Early diagnosis of ARS is essential to establishing preventive and corrective measures that provide a good quality of life for patients who suffer from this syndrome.
Case Report: Preservation of Otolithic Function After Triple Semicircular Canal Occlusion in a Patient With Intractable Ménière Disease
Authors: Yuzhong Zhang, Ying Cheng, Zichen Chen, Feiyun Chen, Qing Zhang
Journal: Front Neurol (2021)
Keywords: ménière disease, hearing preservation, triple semicircular canal occlusion, vestibular evoked myogenic potentials, vestibular function preservation
MeSH terms: Case Reports

Operative measures are considered when medical treatment fails to control vertigo in patients with intractable Ménière disease. The present report discusses a case in which triple semicircular canal occlusion was performed in a 30-year-old female patient who responded poorly to previously performed endolymphatic sac surgery. Her vestibular and auditory functions were evaluated both before and after surgery. Class A control of vertigo was achieved during the 76-month postoperative follow-up period. Ocular and cervical vestibular evoked myogenic potentials could be elicited before and after surgery. This case suggests that relatively long-term preservation of otolithic function can be achieved following triple semicircular canal occlusion, highlighting its potential as an alternative treatment for patients with Ménière disease.
Flecainide Toxicity Secondary to Accidental Overdose: A Pediatric Case Report of Two Brothers
Authors: Sarah E Gardner Yelton, James B Leonard, Caridad M de la Uz, Rajeev S Wadia, Sean S Barnes
Journal: Case Rep Crit Care (2021)
MeSH terms: Case Reports

Flecainide is a class 1C antiarrhythmic with a narrow therapeutic window and thereby a high-risk medication for causing acute toxicity. Dysrhythmias secondary to flecainide ingestion are often refractory to antiarrhythmics and cardioversion, and patients commonly require extracorporeal support. We review the successful resuscitation of two brothers aged 2 and 4 who presented two years apart with unstable wide-complex tachyarrhythmia suspicious for severe flecainide toxicity. Each patient received sodium bicarbonate and 20% intravenous lipid emulsion with a full recovery. While extracorporeal support is often required following flecainide ingestion, we present two cases where it was avoided due to aggressive multimodal management with sodium bicarbonate, electrolyte repletion, and 20% intravenous lipid emulsion. In addition, avoidance of agitation-induced tachycardia may be beneficial.
Asymptomatic filariasis and leprosy co-morbidity in a patient with suspected Guillain-Barrè syndrome: the first case report of an incidental finding in a slit-skin smear
Authors: Soumyabrata Nag, Sneha Gupta, Juhi Sisodia, Richa Misra
Journal: Access Microbiol (2019)
Keywords: lymphatic filariasis, leprosy, neglected tropical diseases
MeSH terms: Case Reports

Introduction:
Lymphatic filariasis (LF) and leprosy are both endemic in India. These diseases are on the World Health Organization (WHO) list of neglected tropical diseases (NTDs), as they affect the most marginalized communities in the world, resulting in deformities and functional limitation. We report the first case of asymptomatic filariasis and leprosy co-morbidity in a patient with suspected Guillain-Barré syndrome.
Case presentation:
A 55-year-old male who was a farmer by occupation presented to the Neurology Outpatient Department (OPD) of our institute with complaints of weakness in all four limbs for the last 15 days. After admission, a detailed history revealed that the patient had been taking multi-drug therapy (MDT) for leprosy for the previous 6 months. After symptomatic management of the presenting complaints, the patient was sent to the Department of Microbiology for a consultation and six-site slit-skin sampling. The initial screening of Ziehl-Neelsen (ZN)-stained smears under a 10× objective led to the incidental finding of sheathed structures resembling microfilaria (Mf) on the smear made from ear lobules. In addition, short acid-fast bacilli (AFB) were also observed under the oil-immersion objective.
Conclusion:
We emphasize that a high index of suspicion and thorough screening of smears by a microbiologist is essential in specimens obtained from any body site.
The experience of conducting collaborative and intensive pragmatic qualitative (CLIP-Q) research to support rapid public health and healthcare innovation
Authors: Jeremy Horwood, Christalla Pithara, Ava Lorenc, Joanna M Kesten, Mairead Murphy, Andrew Turner, Michelle Farr, Jon Banks, Sabi Redwood, Helen Lambert, Jenny L Donovan, NIHR ARC West Behavioural and Qualitative Science Team
Journal: Front Sociol (2022)
Keywords: applied health research, qualitative health research, qualitative methods, rapid appraisal, rapid qualitative methods, rapid qualitative research

A key challenge for qualitative methods in applied health research is the fast pace that can characterize the public health and health and care service landscape, where there is a need for research informed by immediate pragmatic questions and relevant findings are required quickly to inform decision-making. The COVID-19 pandemic accelerated the pace at which evidence was needed to inform urgent public health and healthcare decision-making. This required qualitative researchers to step up to the challenge of conducting research at speed whilst maintaining rigor and ensuring the findings are credible. This article illustrates how working with multidisciplinary, collaborative teams and the tailoring of qualitative methods to be more pragmatic and efficient can provide timely and credible results. Using time-limited case studies of applied qualitative health research drawn from the work of the Behavioral and Qualitative Science Team from the National Institute for Health and Care Research Applied Research Collaboration West (NIHR ARC West), we illustrate our collaborative and intensive pragmatic qualitative (CLIP-Q) approach. CLIP-Q involves (i) collaboration at all stages of the design, conduct and implementation of projects and, where possible, co-production with people with lived experience, (ii) an intensive team-based approach to data collection and analysis at pace, and (iii) pragmatic study design and efficient strategies at each stage of the research process. The case studies include projects conducted pre COVID-19 and during the first wave of the pandemic, where urgent evidence was required in weeks rather than months to inform rapid public health and healthcare decision making.
Temporal Change in Blood Group after Bone Marrow Transplant: A Case of Successful ABO-Incompatible Deceased Donor Transplant
Authors: Susanna Lam, Sebastian Hultin, John Preston, Scott Campbell
Journal: Case Rep Transplant (2020)
MeSH terms: Case Reports

ABO-incompatible kidney transplantation has been successfully utilised in a deceased donor and living donor kidney transplantation to improve organ utilisation and decrease waiting times. We describe a case of a successful, unanticipated ABO-incompatible donation after cardiac death (DCD) kidney transplant in a patient who had a previous ABOi haematopoietic stem cell transplant (HSCT) and had reverted to his original blood group B, after matching as a blood group A recipient with a blood group A donor. The recipient was unsensitized with a cPRA which was 0% and no donor-specific antibodies and zero HLA mismatch. An urgent anti-A titre was 1 : 2. Given the low antibody titres, we proceeded to transplantation. The patient developed delayed graft function and required dialysis on postoperative day 1 and day 2. The creatinine fell spontaneously on day 5, with progressively increased urine output and stable graft function on discharge at day 6. Anti-A titres were 1 : 1 on serial postoperative measurements. There were no rejection episodes, and the patient has a functioning graft at 16 months posttransplant. We describe a rare case in which the blood group can change after stem cell transplant and should be checked. We also demonstrate that a DCD ABOi transplant in the context of low anti-A titres for a patient with previous ABOi stem cell transplant can be performed successfully with standard immunosuppression.
Armored brain in a young girl with a syndromal hydrocephalus
Authors: Ilaria Viozzi, Kirsten van Baarsen, André Grotenhuis
Journal: Acta Neurochir (Wien) (2017)
Keywords: armored brain, bilateral chronic ossified hematoma, matrioska effect, shunt complication
MeSH terms: Calcinosis / etiology, Hematoma, Subdural, Chronic / etiology, Hydrocephalus / surgery, Ossification, Heterotopic / etiology, Ventriculoperitoneal Shunt / adverse effects, Case Reports, Adolescent, Calcinosis / therapy, Female, Hematoma, Subdural, Chronic / therapy, Humans, Ossification, Heterotopic / therapy, Syndrome

The authors present a case of a young girl affected by a syndromal hydrocephalus who developed a bilateral ossified chronic subdural hematoma with the typical radiological appearance of "the armored brain". Bilateral calcified chronic subdural hematoma is a rare complication of ventriculoperitoneal shunt. There is controversy in the treatment, but most published literature discourages a surgical intervention to remove the calcifications.
Reconstruction of a metacarpal head defect due to bite injury: two case reports
Authors: Akito Nakanishi, Kenji Kawamura, Shohei Omokawa, Takamasa Shimizu, Yasuhito Tanaka
Journal: Case Reports Plast Surg Hand Surg (2018)
Keywords: vascularised osteoarticular flap, bite injury, metacarpophalangeal joint, osteomyelitis
MeSH terms: Case Reports

We present two rare cases of acute osteomyelitis after bite injury that were reconstructed with a third metacarpal base osteoarticular flap and a vascularised medial femoral trochlea osteocartilaginous flap. The outcomes show that a vascularised osteoarticular flap is a good treatment option for a metacarpal head defect.
Deep hypothermic circulatory arrest with lung perfusion/ventilation in a patient with acute type a aortic dissection
Authors: Yiliam F Rodriguez-Blanco, Lester Garcia, Tania Brice, Marco Ricci, Tomas A Salerno
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

A 50-year-old black male presented with acute type A aortic dissection. Surgical repair was performed under deep hypothermic circulatory arrest (DHCA) with lung perfusion/ventilation throughout the procedure. Details of the lung perfusion technique and its potential benefits and drawbacks are discussed.
Management of Intrauterine Device Migrated into the Bladder: A Case Report and Literature Review
Authors: A K Paré, A Ouattara, D Yé, B Kabré, A Bako, B M Abubakar, T Kambou
Journal: Case Rep Urol (2020)
MeSH terms: Case Reports

Intrauterine device represents the most reversible method of contraceptive worldwide. Its insertion is a medical procedure not free from complication. We report a rare case of intravesical migration of a copper intrauterine device inserted 18 months earlier in a 28-year-old multiparous woman. The patient presented with irritative lower urinary tract symptoms, and she was managed endoscopically. This case underscores the role of cystoscopy in irritative lower urinary tract symptoms post IUD insertion.
Precocious puberty and Chiari I malformation with syrinx: a case report of an unusual presentation of Costello syndrome
Authors: Naomi S Schwartz, Molly O Regelmann
Journal: Int J Pediatr Endocrinol (2019)
Keywords: chiari i malformation, costello syndrome, precocious puberty, syrinx
MeSH terms: Case Reports

Background:
Costello syndrome (CS) is a rare RASopathy causing developmental delays, short stature and classically, delayed puberty. We present a patient with CS and central precocious puberty (CPP).
Case presentation:
A female patient with CS presented at 6 years 10 months of age with breast development. CPP was biochemically confirmed at 7 years 1 month of age, no additional pituitary dysfunction was noted and puberty progressed at follow-up. Brain magnetic resonance imaging (MRI) revealed a Chiari I malformation with a syrinx, requiring surgical decompression. The patient was successfully treated with histrelin.
Conclusions:
Although recent publications do not recommend routine brain MRI in girls with isolated CPP over 6 years of age, in those with CS actionable MRI findings are more likely and imaging should be performed. It is unclear whether the cerebral malformation in the patient contributed to CPP or was an incidental syndromic finding.