OpenMed/multicare-articles huggingface dataset:
Gastric Duplication: A Rare Cause of Recurrent Vomiting
Authors: Brahmananda Koduri, Katie McHale, Christina Yost, Michael H Goodman, Dennis Hoelzer
Journal: Case Rep Pediatr (2017)
MeSH terms: Case Reports

Vomiting is a physical finding that can occur at any age but presents the greatest challenge when it is recurrent in a child. The etiology is varied (Sieunarine and Manmohansingh, 1989; Suzuki, 1982), and recurrent vomiting can be a symptom of life threatening medical or surgical emergencies. Early recognition is mandatory for preventing delay in management and potential complications. Gastric duplication is rare and mostly diagnosed in infancy with only a few cases documented in the medical literature presenting in childhood. We present a three-year-old Vietnamese female with recurrent vomiting. Obstruction and sepsis were ruled out as a cause of the recurrent vomiting by history and appropriate tests. Persistent vomiting and paucity of air on the plain abdominal films provided a clue to the diagnosis. A CT scan of the abdomen with contrast revealed a uniformly thin walled fluid attenuation mass in the epigastric region which did not opacify with contrast. An abdominal ultrasound confirmed gastric duplication cyst and the patient was taken to the operating room for excision of the cyst.
Intracystic papillary carcinoma of the breast: report of three cases and literature review
Authors: Yassir Ait Benkaddour, Sawsane El Hasnaoui, Karima Fichtali, Bouchra Fakhir, Hicham Jalal, Mouna Kouchani, Abderrahim Aboulfalah, Hassan Abbassi
Journal: Case Rep Obstet Gynecol (2012)
MeSH terms: Case Reports

Intracystic papillary carcinoma is a rare malignant tumor of the breast. It occurs communally in postmenopausal women. Clinically it can be asymptomatic or manifested by a breast mass or a nipple discharge. On imaging intracystic papillary carcinoma has usually benign features. Pathologic diagnosis can be difficult at classical histological examination and identification of myoepithelial cells layer by immunohistochemical study can be useful. In the majority of cases of pure intracystic papillary carcinoma, conservative management is possible. Adjuvant therapy is still controversial and prognosis is excellent. We report three cases of intracystic papillary carcinoma diagnosed on immunohistochemical examination and managed with conservative surgery.
A Complication of an Endoscopic Pigtail Stent Migration into the Cavity during Deployment as a Treatment for Gastric Leak
Authors: Abrar A AlAtwan, Ali AlJewaied, Talal AlKhadher, Mohannad AlHaddad, Iqbal Siddique
Journal: Case Rep Surg (2019)
MeSH terms: Case Reports

Gastric leak following gastrointestinal surgery is the most dreadful complication, which implies long hospital stay, morbidities, and not irrelevant mortalities. There is no standard recommendation for treating postlaparoscopic sleeve gastrectomy leak, which makes its management challenging. Endoscopic internal drainage by double-pigtail drains currently became the recommended approach. Complications to this approach include bleeding, ulceration at the tip of the double-pigtail stent, and uncommon migration. Here, we report our experience with drain displacement into the cavity while deployment in a patient who experienced gastric leakage after undergoing sleeve gastrectomy.
Intradural Staphylococcus aureus Abscess of the Cauda Equina in an Otherwise Healthy Patient
Authors: Thomas J Sorenson, Giuseppe Lanzino
Journal: Case Rep Surg (2019)
MeSH terms: Case Reports

Abscesses involving the spine are usually located in the epidural space. In rare circumstances, intradural spinal abscesses can occur, typically in the setting of tuberculosis or other predisposing systemic conditions. In this illustrated case report, we discuss the imaging and intraoperative findings of an otherwise healthy patient with an intradural abscess of the cauda equina caused by Staphylococcus aureus. Although rare, intradural spinal abscesses can occur in the absence of typical "red flags" for infection, and a bacterial abscess should be considered in the differential diagnosis of intradural spinal cystic enhancing lesions.
Sustained Glycemic Control With Ivacaftor in Cystic Fibrosis-Related Diabetes
Authors: Francis Christian, Andrew Thierman, Erin Shirley, Karen Allen, Cory Cross, Kellie Jones
Journal: J Investig Med High Impact Case Rep (2019)
Keywords: cystic fibrosis, cystic fibrosis–related diabetes, ivacaftor
MeSH terms: Aminophenols / administration & dosage, Cystic Fibrosis / complications, Diabetes Mellitus / drug therapy, Insulin / administration & dosage, Quinolones / administration & dosage, Case Reports, Adult, Blood Glucose / drug effects, Cystic Fibrosis / drug therapy, Cystic Fibrosis / genetics, Cystic Fibrosis Transmembrane Conductance Regulator / genetics, Diabetes Mellitus / diagnosis, Diabetes Mellitus / etiology, Glucose Intolerance, Glucose Tolerance Test, Glycated Hemoglobin / analysis, Humans, Male, Aminophenols, Blood Glucose, CFTR protein, human, Glycated Hemoglobin A, Insulin, Quinolones, Cystic Fibrosis Transmembrane Conductance Regulator, ivacaftor

Cystic fibrosis-related diabetes (CFRD) is a common comorbidity in cystic fibrosis with pancreatic insufficiency occurring early in the disease process. Current treatment is exogenous insulin therapy as CFRD is due to impaired insulin secretion. Recent small studies have shown improvement in endogenous insulin secretion with a short period of ivacaftor therapy in primarily pediatric patients with cystic fibrosis transmembrane conductance regulator mutations amenable to potentiation. In this article, we present the case of an adult patient with long-standing CFRD who developed sustained improvement in glycemic control after initiation of ivacaftor.
SePIA: RNA and small RNA sequence processing, integration, and analysis
Authors: Katherine Icay, Ping Chen, Alejandra Cervera, Ville Rantanen, Rainer Lehtonen, Sampsa Hautaniemi
Journal: BioData Min (2016)
Keywords: breast cancer, integration, rna, sequencing, mirna, totalrna

Background:
Large-scale sequencing experiments are complex and require a wide spectrum of computational tools to extract and interpret relevant biological information. This is especially true in projects where individual processing and integrated analysis of both small RNA and complementary RNA data is needed. Such studies would benefit from a computational workflow that is easy to implement and standardizes the processing and analysis of both sequenced data types.
Results:
We developed SePIA (Sequence Processing, Integration, and Analysis), a comprehensive small RNA and RNA workflow. It provides ready execution for over 20 commonly known RNA-seq tools on top of an established workflow engine and provides dynamic pipeline architecture to manage, individually analyze, and integrate both small RNA and RNA data. Implementation with Docker makes SePIA portable and easy to run. We demonstrate the workflow's extensive utility with two case studies involving three breast cancer datasets. SePIA is straightforward to configure and organizes results into a perusable HTML report. Furthermore, the underlying pipeline engine supports computational resource management for optimal performance.
Conclusion:
SePIA is an open-source workflow introducing standardized processing and analysis of RNA and small RNA data. SePIA's modular design enables robust customization to a given experiment while maintaining overall workflow structure. It is available at http://anduril.org/sepia.
A multisystem syndrome compatible with systemic lupus erythematosus: Case report and review of literature
Authors: Samira Alesaeidi, Morteza Daraei, Amir Salami Khanshan, Hamed Zainaldain
Journal: Caspian J Intern Med (2021)
Keywords: cyclophosphamide therapy, lupus nephritis, systemic lupus erythematosus
MeSH terms: Case Reports

Background:
Abdominal pain is a routine symptom. Mesenteric arteritis, intestinal vasculitis, enteric vasculitis, mesenteric vasculitis, lupus peritonitis, and abdominal serositis are the possible differential diagnoses. Therefore, lupus enteritis has an uncertain outbreak.
Case presentation:
A 27-year-old woman presented with clinical presentation of peritonitis suggestive of acute abdominal crisis with three days history of fever, bloody diarrhea, nausea, vomiting and seizure. Further work up revealed microangiopathic hemolytic anemia, thrombocytopenia, proteinuria, polyserositis and her initial autoimmune panel all were negative. Since SLE was at the top of our diagnosis, we considered glucocorticoid and cyclophosphamide pulse therapy. After approximately two months of her initial presentation, when all of her symptoms subsided by initial therapy, her antinuclear antibody became positive at 1:320 titers and renal biopsy was compatible with lupus nephritis (stage III).
Conclusion:
It is crucial to take the diagnosis of lupus into consideration, in case of any young female with multiorgan involvement even without positive antibody tests. As in this case, it took more than two months after initial presentation to confirm the diagnosis via renal biopsy and only after then, serum autoantibodies became seropositive.
Case Report: Ultrasound Guided Mucosal Fold Lateralization for Laryngeal Webs
Authors: Sohit Paul Kanotra
Journal: Front Surg (2021)
Keywords: airway, laryngeal web, laser, pediatric, stridor, suture laterization, tracheostomy, ultrasound
MeSH terms: Case Reports

The surgical management of Laryngeal webs is challenging and is associated with a high recurrence rate due the presence of opposing raw mucosal surfaces of the vocal cords, especially near the anterior commissure which causes re-scarring. We describe an endoscopic technique of mucosal flap lateralization (MFL) with ultrasound guidance, which prevents the apposition of the anterior raw surfaces of the vocal cords after web incision, thus avoiding recurrence.
Spinal Cord Lesion by Minor Trauma as an Early Sign of Multiple System Atrophy
Authors: Marisa Brum, Sofia Reimão, Djalma Sousa, Rui de Carvalho, Joaquim J Ferreira
Journal: Front Neurol (2016)
Keywords: atypical parkinsonism, early sign, multiple system atrophy, spinal cord lesion, trauma
MeSH terms: Case Reports

Multiple system atrophy (MSA) is characterized clinically by parkinsonism, cerebellar, autonomic, and corticospinal features of variable severity. When the presentation is only parkinsonism, the disease might be difficult to differentiate from Parkinson's disease (PD). We present a case of an 80-year-old man with previous diagnosis of PD. One year after the diagnosis, he had a whiplash cervical trauma due to a tricycle accident caused by a hole in the road. This low-energy trauma caused an unstable C4-C5 cervical fracture with spinal cord injury, which required surgical decompression and stabilization. Neurological examination showed marked postural instability, no rest and postural tremor, finger tapping slowed on the right, spastic tetraparesis (ASIA D) - predominantly on the left side, brisk deep tendon reflexes in the upper and lower extremities, and bilateral extensor plantar response. He also presented with vertical gaze restriction, mild hypometria in horizontal saccades, moderate dysphagia, and dysphonia. As atypical parkinsonism was suspected, he underwent an MRI that revealed conjunction of findings suggestive of parkinsonian-type MSA. In our case, we hypothesize that the loss of postural reflexes, as an early manifestation of MSA, did not allow the patient to have an effective reaction response to a low-energy trauma, resulting in a more severe injury. With this case report, we speculate that the severe spinal lesions caused by minor accidents can be an early sign of postural instability, which may lead to clinical suspicion of neurodegenerative disorder manifested by postural reflexes impairment.
Robotic Assisted Laparoscopic Prostatectomy after High Intensity Focused Ultrasound Failure
Authors: Leon Telis, Seyed Behzad Jazayeri, David B Samadi
Journal: Case Rep Urol (2017)
MeSH terms: Case Reports

Background. Prostate cancer is the most common cancer diagnosed in men. As new focal therapies become more popular in treatment of prostate cancer, failure cases requiring salvage therapy with either surgical or other techniques are being reported. Objective. To report the options in treatment of prostate cancer after recurrence or failure of the primary treatment modality. Methods. We report a salvage robotic assisted laparoscopic radical prostatectomy (RALP) for prostate cancer recurrence following high intensity focused ultrasound treatment (HIFU) in the United States. Results. A 67-year-old man who underwent HIFU treatment for prostate adenocarcinoma 2 years prior was presented with a rising prostate specific antigen of 6.1 ng/mL to our clinic. A biopsy proven recurrent disease in the area of previous treatment documented the failure of treatment. The patient elected to undergo a salvage RALP. The operation time was 159 minutes. The patient was discharged from the hospital on postoperative day 1 with no complications. The catheter was removed on post-op day 10. The patient reserved sexual function and urinary continence. The PSA levels on 6 months' follow-up are undetectable. Conclusions. Salvage RALP is an effective and safe treatment choice for recurrent prostate adenocarcinoma following failed HIFU treatment if operated by an experienced surgeon.
Case report: The CCDC103 variant causes ultrastructural sperm axonemal defects and total sperm immotility in a professional athlete without primary ciliary diskinesia
Authors: Francesca Paola Luongo, Alice Luddi, Rosetta Ponchia, Rossella Ferrante, Sara Di Rado, Eugenio Paccagnini, Mariangela Gentile, Pietro Lupetti, Raffaella Guazzo, Alfredo Orrico, Liborio Stuppia, Paola Piomboni
Journal: Front Genet (2023)
Keywords: axoneme, ccdc103, dynein arms, infertility, nasal cilia, sperm immotility
MeSH terms: Case Reports

Primary ciliary dyskinesia (PCD) is an inherited autosomal-recessive disorder characterized by abnormal ciliary motion, due to a defect in ciliary structure and/or function. This genetic condition leads to recurrent upper and lower respiratory infections, bronchiectasis, laterality defect, and subfertility. Male infertility is often associated with PCD, since the ultrastructure of the axoneme in the sperm tail is similar to that of the motile cilia of respiratory cells. We present the first reported case of a male patient from a non-consanguineous Italian family who exhibited a severe form of asthenozoospermia factor infertility but no situs inversus and absolutely no signs of the clinical respiratory phenotype, the proband being a professional basketball player. Whole-exome sequencing (WES) has identified a homozygote mutation (CCDC103 c.461 A>C, p.His154Pro) in the proband, while his brother was a heterozygous carrier for this mutation. Morphological and ultrastructural analyses of the axoneme in the sperm flagellum demonstrated the complete loss of both the inner and outer dynein arms (IDA and ODA, respectively). Moreover, immunofluorescence of DNAH1, which is used to check the assembly of IDA, and DNAH5, which labels ODA, demonstrated that these complexes are absent along the full length of the flagella in the spermatozoa from the proband, which was consistent with the IDA and ODA defects observed. Noteworthy, TEM analysis of the axoneme from respiratory cilia showed that dynein arms, although either IDAs and/or ODAs seldom missing on some doublets, are still partly present in each observed section. This case reports the total sperm immotility associated with the CCDC103 p.His154Pro mutation in a man with a normal respiratory phenotype and enriches the variant spectrum of ccdc103 variants and the associated clinical phenotypes in PCD, thus improving counseling of patients about their fertility and possible targeted treatments.
Case report: Diagnosis, management and evolution of a bulky and invasive cardiac mass complicated by complete atrioventricular block
Authors: Yohann Bohbot, Jérôme Garot, Isabelle Danjon, Dominique Thébert, Louis Nahory, Philippe Gros, Fiorella Salerno, Philippe Garot
Journal: Front Cardiovasc Med (2023)
Keywords: atrioventicular block, biopsy, cardiac magnet resonance imaging (cmr), chemotherapy, lymphoma
MeSH terms: Case Reports

Introduction:
Cardiac lymphoma is a rare but serious disease that is usually located in the right heart. The symptoms (dyspnea, respiratory distress, fatigue, syncope…) are not specific and depend on the mass location. Cardiac magnetic resonance has a crucial role in the diagnostic strategy but biopsy is mandatory to confirm the diagnosis.
Case presentation:
We report the case of a 63-yeart old man who presented with severe dyspnea and complete atrioventricular block (AVB). A bulky and invasive mass was found in the left atrium extending to the right atrium through the interatrial septum. A cardiac lymphoma was suspected by cardiac magnetic resonance (CMR) imaging and confirmed by transvenous biopsy. The patient was treated with urgent chemotherapy (R-CHOP) and pacemaker implantation. After 4 cycles of R-CHOP the patient was in complete remission with total disappearance of the mass and return of a spontaneous sinus rhythm.
Conclusion:
lymphoma is a therapeutic emergency as appropriate treatment can lead to complete remission even when the mass is extensive and invasive. Complete AVB is a potentially reversible complication of cardiac lymphoma, and the decision to implant a pacemaker must be carefully weighed.
Hydroxychloroquine and Fabry Disease: Three Case Reports Examining an Unexpected Pathologic Link and a Review of the Literature
Authors: Rouhin Sen, Kathleen Borghoff, Kirk W Foster, Stanley J Radio, Alan Erickson, Michelene Hearth-Holmes
Journal: Case Rep Rheumatol (2022)
MeSH terms: Case Reports

Background:
Hydroxychloroquine is an effective and widely used treatment in multiple autoimmune connective tissue diseases that gained a lot of publicity in the coronavirus disease 2019 (COVID-19) pandemic. Our case reports are unique in that they explore the rare and sometimes overlooked effects of this drug on multiple organ systems, specifically the kidney, cardiac muscle, and skeletal muscle. We include key histologic features in images which aid in identifying and distinguishing hydroxychloroquine toxicity from mimickers. Lastly, we report the very interesting similarity in the intracellular action of hydroxychloroquine to the pathology of Fabry disease (and its associated lysosomal enzyme, α-galactosidase A). Case Presentation. We will examine the case presentations of three female Caucasian patients: a 22-year-old with lupus nephritis class V, a 72-year-old with long-standing systemic lupus erythematosus, and a 74-year-old with undifferentiated connective tissue disease. All three patients were on hydroxychloroquine therapy for varying amounts of time with histologic evidence of hydroxychloroquine toxicity that is three is present in histological samples of the kidney, the heart, and the skeletal muscle.
Conclusions:
Hydroxychloroquine is a very important and beneficial medication used for various autoimmune connective tissue diseases. Clinicians should be aware of the rare but sometimes serious side effects that can result from the medication, which at times can mimic manifestations of the connective tissue disease itself or Fabry disease. A thorough investigation should be performed in these cases to properly elucidate the cause followed by the appropriate targeted therapy.
Reconstruction of osteosarcoma of the proximal tibia using bone on polyethylene hemiarthroplasty knee joint system: A case report
Authors: Yogi Prabowo, Muhammad Rizqi Adhi Primaputra, Evelina Kodrat
Journal: Int J Surg Case Rep (2020)
Keywords: hemiarthroplasty, osteosarcoma, polyethylene, reconstruction
MeSH terms: Case Reports

Introduction:
Current treatment in treating patient with osteosarcoma is combination of chemotherapy and surgery, either limb-sparing or limb-ablation surgery. One challenge in limb-sparing technique in children is how to deal with the remaining growth of the bone. We created a limb-sparing reconstruction technique that can be fitted in many types of hospital and have a good functional outcome.
Case presentation:
We reported a case of 13-years-old female with left knee pain since 8 months prior hospital admission with previous treatment to a bone setter and open biopsy at previous hospital. Histopathological findings demonstrated osteosarcoma. The patient had a neoadjuvant chemotherapy and followed with limb-sparing surgery. We performed wide excision of proximal tibia and reconstruction using a bone on polyethylene hemiarthroplasty system of the knee joint. Patient then continued on adjuvant chemotherapy. Later on, local recurrence occurred and we performed excision again. Within one year, the patient could walk full weight bearing, perform daily activities with no limitation and no pain, and she had MSTS score of 21.
Discussion:
Limb-sparing surgery remains a challenging procedure in skeletally immature patients. This bone on polyethylene technique would be functional due to high adaptability in paediatric patients in order to decrease the number of surgeries until the final goal of limb equalization.
Conclusion:
Bone on polyethylene hemiarthroplasty system enables good and reliable functional outcome while maintaining the knee joint for daily activity. It can be chosen as one of viable options in treating osteosarcoma around the knee joint in children.