OpenMed/multicare-articles huggingface dataset:
A Rare Case of Human Diphallia Associated with Hypospadias
Authors: Andrey Frolov, Yun Tan, Mohammed Waheed-Uz-Zaman Rana, John R Martin 3rd
Journal: Case Rep Urol (2018)
MeSH terms: Case Reports

Diphallia or penile duplication is a rare congenital variant with an estimated frequency of 1 per 5 to 6 million live births. The extent of duplication varies widely and typically occurs with other malformations including urogenital, gastrointestinal, and musculoskeletal anomalies. Here we present a case of human diphallia that was detected during routine dissection of an 84-year-old cadaver. Upon thorough examination, this case was characterized as a complete bifid penis which was accompanied by hypospadias with no other anatomical abnormalities detected. To gain insights into the etiology of this case, we analyzed DNA procured from the body for putative genetic variants using Next Generation Sequencing (NGS) technology. Our results support clinical observations consistent with human diphallia being a polygenic syndrome and identify new genetic variants that might underlie its etiology.
Complications and risk management in the use of the reaming-irrigator-aspirator (RIA) system: RIA is a safe and reliable method in harvesting autologous bone graft
Authors: Patrick Haubruck, Julian Ober, Raban Heller, Matthias Miska, Gerhard Schmidmaier, Michael C Tanner
Journal: PLoS One (2018)
MeSH terms: Bone Transplantation, Fractures, Ununited / therapy, Postoperative Complications, Risk Management, Tissue and Organ Harvesting / methods, Adult, Aged, Area Under Curve, Blood Transfusion, Female, Femur / surgery, Humans, Logistic Models, Male, Middle Aged, Pain / etiology, ROC Curve, Tissue and Organ Harvesting / adverse effects, Transplantation, Autologous

Background:
Autologous bone grafting (ABG) remains the gold standard for augmentation of bone defects. The RIA system has become more prevalent, but evidence regarding risk management and complications remain scarce. This study presents the risk management and complications associated with RIA in the largest single-center case series to date.
Methods:
All records, operative notes, lab data and radiographs of patients receiving a RIA procedure at Heidelberg´s University Hospital between 01/01/2010 and 31/12/2016 were reviewed. Multivariate logistic regression models adjusting for clinically relevant covariates were used to examine the respective relevance regarding the presence and absence of prolonged postoperative pain (PPP).
Results:
A total of 341 RIA procedures on 306 patients were performed at our level-1 trauma center. The femur was the main donor site (98.53%; N = 336) whereas only in 1.47% (N = 5) the tibia was utilized. A total of 11 patients showed a relevant loss of hemoglobin requiring blood transfusion. A total of 22 patients suffered from PPP directly associated with the RIA procedure resulting in prevalence of 6.45%. The 6 major complications in our study were of diverse origin and all intraoperative complications took place in the early phase of the RIA procedure in our center (2010-2013). Our data revealed influence of sex (p = 0.0459) and age (p = 0.0596) on the criterion PPP. The favored model including sex and age resulted in an AUC of 66.2% (CI: 55.5%-76.9%).
Conclusion:
Perioperative blood loss remains a prevalent complication during RIA reaming. In addition, PPP occurs with a prevalence of 6.45%. This study showed a complication rate of 1.76%, emphasizing RIA´s overall safety and furthermore highlighting the need for vigilance in its application and prior extensive hands-on training of surgeons. Level of Evidence: II.
An adult B-cell precursor acute lymphoblastic leukemia with multiple secondary cytogenetic aberrations
Authors: Walid Al-Achkar, Abdulsamad Wafa, Moneeb Abdullah Kassem Othman, Faten Moassass, Abdulmunim Aljapawe, Thomas Liehr
Journal: Mol Cytogenet (2014)
Keywords: acute lymphoblastic leukemia, array-proven multicolor banding, fluorescence in situ hybridization, philadelphia chromosome, prognostic factors, secondary chromosomal abnormalities
MeSH terms: Case Reports

Background:
We report a clinically diagnosed acute lymphoblastic leukemia (ALL) with yet unreported secondary chromosomal aberrations.
Results:
A complete cytogenetic and molecular cytogenetic analysis, using GTG banding, fluorescence in situ hybridization (FISH) and array-proven multicolor banding (aMCB), for a female patient with clinically diagnosed ALL and immunophenotypically confirmed pre-B ALL (FAB classifications), revealed the presence of a complex structural rearrangement, der (2) (20qter- > 20q13.33::2q21- > 2p14::2q21 > 2qter) along with t (9;22) (q34;q11), t (12;14) (q12;p12) and a monosomy of chromosome 7.
Conclusions:
Molecular cytogenetic studies are suited best for identification and characterization of chromosomal rearrangements in acute leukemia. Single case reports as well as large scale studies are necessary to provide further insights in karyotypic changes taking place in human malignancies.
Case Report: SATB2-Associated Syndrome Overlapping With Clinical Mitochondrial Disease Presentation: Report of Two Cases
Authors: Yuri A Zarate, Hilary J Vernon, Katherine A Bosanko, Praveen K Ramani, Murat Gokden, Karin Writzl, Marija Meznaric, Tina Vipotnik Vesnaver, Raghu Ramakrishnaiah, Damjan Osredkar
Journal: Front Genet (2021)
Keywords: satb2, satb2-associated syndrome, glass syndrome, mitochondrial disease, muscle biopsy
MeSH terms: Case Reports

SATB2-associated syndrome (SAS) is an autosomal dominant neurogenetic multisystemic disorder. We describe two individuals with global developmental delay and hypotonia who underwent an extensive evaluation to rule out an underlying mitochondrial disorder before their eventual diagnosis of SAS. Although the strict application of the clinical mitochondrial disease score only led to the designation of "possible" mitochondrial disorder for these two individuals, other documented abnormalities included nonspecific neuroimaging findings on magnetic resonance imaging and magnetic resonance spectroscopy, decreased complex I activity on muscle biopsy for patient 2, and variation in the size and relative proportion of types of muscle fibers in the muscle biopsies that were aligned with mitochondrial diseases. SAS should be in the differential diagnoses of mitochondrial disorders, and broad-spectrum diagnostic tests such as exome sequencing need to be considered early in the evaluation process of undiagnosed neurodevelopmental disorders.
Thymoma associated myasthenia gravis with atypical presentation of lipomatous tongue atrophy: a case report
Authors: Suzan Salem, Islam Saad, Rana Alamri
Journal: Pan Afr Med J (2019)
Keywords: thymoma, lipomatous tongue atrophy, myasthenia gravis
MeSH terms: Myasthenia Gravis / complications, Thymoma / diagnosis, Thymus Neoplasms / diagnosis, Tongue Diseases / diagnosis, Case Reports, Adult, Atrophy / etiology, Deglutition Disorders / etiology, Female, Humans, Lipoma / diagnosis, Lipoma / etiology, Thymoma / etiology, Thymus Neoplasms / etiology, Tongue Diseases / etiology

A 28-year-old female patient came to the outpatient dental clinic for multiple teeth extractions and full mouth rehabilitation suffer from myasthenia gravis (MG) primary presentation as tongue atrophy and facial muscles weakness and the symptoms became worries, the patient unable to speak as well and change her voice and complaining of dysphagia and dysarthria. Oral symptoms, treatment schedule and protocol, the selection, prescription and impacts of medications, and prevention of myasthenic crisis are all important; aspects should be considered by dentists and oral health care providers. Weakness of facial and oropharyngeal muscle is considered very popular at disease onset and therefore oral health providers are often the first medical professionals to observe these patients. Myasthenic patients seek particular approach and consultation in order to ensure ideal and proper dental management.
Transcriptomics-Guided Personalized Prescription of Targeted Therapeutics for Metastatic ALK-Positive Lung Cancer Case Following Recurrence on ALK Inhibitors
Authors: Elena Poddubskaya, Alexey Bondarenko, Alexander Boroda, Evgenia Zotova, Alex Glusker, Svetlana Sletina, Luidmila Makovskaia, Philipp Kopylov, Marina Sekacheva, Alexey Moisseev, Madina Baranova
Journal: Front Oncol (2019)
Keywords: alk, nsclc, gene expression, personalized oncology, transcriptomics
MeSH terms: Case Reports

Non-small cell lung carcinoma (NSCLC) is the major cause of cancer-associated mortality. Identification of rearrangements in anaplastic lymphoma kinase (ALK) gene is an effective instrument for more effective targeted therapy of NSCLC using ALK inhibitors dramatically raising progression-free survival in the ALK-mutated group of patients. However, the tumors frequently develop resistance to ALK inhibitors. We describe here a case of 48 y.o. male patient with ALK-positive NSCLC who was clinically managed for 6.5 years from the diagnosis. The tumor was surgically resected, but 8 months later multiple brain metastases were discovered. The patient started receiving platinum-based chemotherapy and then was enrolled in a clinical trial of second-generation ALK inhibitor ceritinib, which resulted in a 21 months stabilization. Following disease relapse, the patient was successfully managed for 33 months with different lines of chemo- and local ablative therapies. Chemotherapy regimens, including off-label combination of crizotinib + bevacizumab + docetaxel, were selected using the cancer transcriptome data-guided bioinformatical decision support system Oncobox. These therapies led to additional stabilization for 22 months. Survival of our patient after developing resistance to ALK inhibitor was longer for 16 months than previously reported average survival for such cases. This case shows that transcriptomic-guided sequential personalized prescription of targeted therapies can be effective in terms of survival and quality of life in ALK-mutated NSCLC.
Low-Grade Appendiceal Mucinous Neoplasm (LAMN) Primarily Diagnosed as an Ovarian Mucinous Tumor
Authors: Konstantinos Perivoliotis, Gregory Christodoulidis, Athina A Samara, Ioanna-Konstantina Sgantzou, Theodoros Floros, Georgios Volakakis, Foteini Karasavvidou, Konstantinos Tepetes
Journal: Case Rep Surg (2021)
MeSH terms: Case Reports

Background:
Low-grade appendiceal mucinous neoplasms (LAMN) are detected in 0.7 to 1.7% of all appendicectomies. The diagnosis can be challenging, particularly in female patients where the differential diagnosis of primary appendiceal and ovarian mucinous neoplasms is unclear. Case Presentation. A 71-year-old female was referred to our tertiary hospital with the working diagnosis of a right ovarian cystic tumor. The lesion was identified through a transvaginal ultrasound performed for vague lower abdominal pain symptoms. CT scan confirmed these findings. Intraoperatively, an appendiceal mucocele was identified and a right hemicolectomy was performed. The histopathology examination revealed a LAMN. Six months later, the patient remains disease-free. A close biannual oncological follow-up has been suggested.
Conclusion:
This case underlines the difficulty in determining the origin of mucinous neoplasms of the right pelvic area. Mucocele of the appendix should be considered in the differential diagnosis of a mass in the right iliac fossa.
Germline Mutation in KIF1Bβ Gene Associated with Loss of Heterozygosity: Usefulness of Next-Generation Sequencing in the Genetic Screening of Patients with Pheochromocytoma
Authors: Giuseppina De Filpo, Elisa Contini, Viola Serio, Andrea Valeri, Massimiliano Chetta, Daniele Guasti, Daniele Bani, Massimo Mannelli, Elena Rapizzi, Michaela Luconi, Mario Maggi, Tonino Ercolino, Letizia Canu
Journal: Int J Endocrinol (2020)

The genetic approach of pheochromocytomas and paragangliomas has changed in the last two decades. Nowadays, we know that more than 40% of patients have a germline mutation in one of the susceptibility genes identified to date. Our aim is to underline how genetic diagnosis by next-generation sequencing (NGS) can improve the management of patients affected by pheochromocytomas and paragangliomas in our routine diagnostic screening. We reported a case presentation and next-generation sequencing analysis supported by in silico studies and evaluation of mitochondrial status in KIF1Bβ tissue. A 46-year-old male affected by a left secreting pheochromocytoma underwent surgery in 2017. After surgery, the normetanephrine levels decreased very slowly and a suspected abdominal lymph node was detected. We found a novel germline KIF1Bβ gene mutation, c.4052C > T, p. Pro1351Leu associated with tumor loss of heterozygosity, and resulted likely-pathogenetic by in silico studies. This mutation was also associated with an increased number of mitochondria through the electron microscopy compared with wild-type tissues as suggestive for mitochondria neoformation compensatory to the mitochondrial autophagic figures observed. Our results underline the usefulness of next-generation sequencing in the presence of multiple tumor predisposition genes and how, at the same time, its use may result challenging for the clinicians. To date, performing the genetic analysis according to the latest Consensus Statement is mandatory in patients affected by PHEO/PGL.
Imaging Pitfall in the Pediatric Knee: Irregular Epiphyseal Ossification at the Femoral Condyle
Authors: Frederiek Laloo, Marcela De La Hoz Polo, Saira Haque
Journal: J Belg Soc Radiol (2021)
Keywords: epiphyses, femur, magnetic resonance imaging, osteochondritis dissecans, osteogenesis, pediatrics
MeSH terms: Case Reports

Teaching point: Age-related variability in endochondral ossification of the femoral condyles in children is a normal variant of skeletal maturation and should not be misdiagnosed as osteochondritis dissecans or any other epiphyseal abnormality.
Spontaneous Bacterial Peritonitis Caused by Listeria monocytogenes Associated with Ascitic Fluid Lymphocytosis: A Case Report and Review of Current Empiric Therapy
Authors: Todd Yecies, Sanae Inagami
Journal: Case Reports Hepatol (2013)

Spontaneous bacterial peritonitis (SBP) is a potentially deadly complication of ascites. We describe a case of SBP caused by Listeria monocytogenes in a patient with alcoholic cirrhosis. This was associated with the unusual finding of ascitic fluid lymphocytosis, which previously had only been associated with tuberculoid or malignant ascites. Given increasing rates of cefotaxime-resistant SBP alongside the possibility of Listeriosis, the use of cefotaxime as first-line therapy in SBP should be reevaluated.
Automated and Quantitative Assessment of Tactile Mislocalization After Stroke
Authors: Mike D Rinderknecht, Julio A Dueñas, Jeremia P Held, Olivier Lambercy, Fabio M Conti, Leopold Zizlsperger, Andreas R Luft, Marie-Claude Hepp-Reymond, Roger Gassert
Journal: Front Neurol (2019)
Keywords: localization deficits, quantitative measurement, robotic, stroke, topesthesia, topognosis, touch, vibration
MeSH terms: Case Reports

Topesthesia, the recognition of tactile stimulation location on the skin, can be severely affected by neurological injuries, such as stroke. Despite topesthesia being crucial for manipulating objects and interacting with the environment during activities of daily living, deficits cannot be quantitatively captured with current clinical assessments and are, as a consequence, not well-understood. The present work describes a novel automated assessment tool for tactile mislocalization in neurological patients with somatosensory deficits. We present two cases of ischemic stroke patients, describe their tactile localization deficits with the automated assessment, and compare the results to a standard manual clinical assessment. Using the automated assessment tool, it was possible to identify, locate, precisely quantify, and depict the patients' deficits in topesthesia. In comparison, the clinical assessment was not sensitive enough and some deficits would remain undetected due to ceiling effects. In addition, an MRI structural analysis of the lesion supported the existence of somatosensory deficits. This novel and quantitative assessment may not only help to raise awareness of the implications of deficits in topesthesia, but would also allow monitoring recovery throughout the rehabilitation process, informing treatment design, and objectively evaluating treatment efficacy.
Expansion of the Spinocerebellar ataxia type 10 (SCA10) repeat in a patient with Sioux Native American ancestry
Authors: Khalaf Bushara, Matthew Bower, Jilin Liu, Karen N McFarland, Ivette Landrian, Diane Hutter, Hélio A G Teive, Astrid Rasmussen, Connie J Mulligan, Tetsuo Ashizawa
Journal: PLoS One (2013)
MeSH terms: DNA Repeat Expansion / genetics, Indians, North American / genetics, Nerve Tissue Proteins / genetics, Spinocerebellar Ataxias / genetics, Case Reports, Research Support, N.I.H., Extramural, Aged, 80 and over, Ataxin-10, Evolution, Molecular, Genetics, Population, Haplotypes, Humans, Male, Mutation, Polymorphism, Single Nucleotide, Quantitative Trait Loci, ATXN10 protein, human, Ataxin-10, Nerve Tissue Proteins, Spinocerebellar Ataxia 10

Spinocerebellar ataxia type 10 (SCA10), an autosomal dominant cerebellar ataxia, is caused by the expansion of the non-coding ATTCT pentanucleotide repeat in the ATAXIN 10 gene. To date, all cases of SCA10 are restricted to patients with ancestral ties to Latin American countries. Here, we report on a SCA10 patient with Sioux Native American ancestry and no reported Hispanic or Latino heritage. Neurological exam findings revealed impaired gait with mild, age-consistent cerebellar atrophy and no evidence of epileptic seizures. The age at onset for this patient, at 83 years of age, is the latest documented for SCA10 patients and is suggestive of a reduced penetrance allele in his family. Southern blot analysis showed an SCA10 expanded allele of 1400 repeats. Established SNPs surrounding the SCA10 locus showed a disease haplotype consistent with the previously described "SCA10 haplotype". This case suggests that the SCA10 expansion represents an early mutation event that possibly occurred during the initial peopling of the Americas.
Extensive sclerosing mesenteritis of the rectosigmoid colon associated with erosive colitis
Authors: C Nobili, L Degrate, R Caprotti, C Franciosi, B E Leone, F Romano, M Dinelli, Fr Uggeri
Journal: Gastroenterol Res Pract (2009)
MeSH terms: Case Reports

Sclerosing mesenteritis is a rare, idiopatic, usually benign, inflammatory process of the mesenteric adipose tissue. The most common site of involvement is the small bowel mesentery. We present a case of sclerosing mesenteritis of the rectosigmoid colon as a cause of severe abdominal pain, abdominal obstruction, and ischemic colic mucosal lesions. Contrast enema, colonoscopy, angiography, and CT were the imaging modalities used. A 20 cm diameter, fibrotic mass causing extensive compression of rectosigmoid colon was found at laparotomy. Histological examination showed extended fibrosis, inflammatory cells infiltration, lipophages, and granulomas within the mesenteric adipose tissue associated with erosive colitis. Clinical presentation and treatment are discussed.
Clival chordoma in a young male patient: a case report
Authors: Aref Zribi, Sonia Ben Nasr, Aya Khemir, Faten Gargouri, Ichrak Ben Abdallah, Issam Msakni, Sana Fendri, Mehdi Balti, Basma Laabidi, Abderrazek Haddaoui
Journal: Pan Afr Med J (2020)
Keywords: chordoma, clival, radiotherapy, surgery, treatment
MeSH terms: Chordoma / diagnostic imaging, Cranial Fossa, Posterior / diagnostic imaging, Skull Base Neoplasms / diagnostic imaging, Case Reports, Adult, Chordoma / pathology, Chordoma / therapy, Cranial Fossa, Posterior / pathology, Follow-Up Studies, Humans, Magnetic Resonance Imaging, Male, Radiotherapy, Adjuvant, Skull Base Neoplasms / pathology, Skull Base Neoplasms / therapy, Tomography, X-Ray Computed

Chordoma is a rare malignant tumor of the spine. We report the case of a 26-year-old man who presented with facial paralysis and upper limbs paresthesia. Cerebral CT-scan and cerebro-spinal MRI revealed a 58mm locally advanced middle clival mass with deviation of median cerebral structures. Endoscopic biopsy concluded to a chondroid chordoma. Skeletal survey and thoraco-abdomino-pelvic CT-scan were normal. Treatment consisted in complete surgical removal of the tumor followed by adjuvant radiotherapy. The patient is alive free of disease with a follow up of 12 months.
Case Report: "Area of Focus" Atypical Trichinellosis and Fascioliasis Coinfection
Authors: Meng Wang, Wei Liu, Ziman Xiong, Zhen Li, Jiansha Li, Xin Xu, Meng Zhang, Mingyou Xing, Qin Ning, Di Wu, Junying Qi
Journal: Front Med (Lausanne) (2022)
Keywords: fasciola hepatica, trichinella spiralis, case report, magnetic resonance imaging (mri), metagenomic next-generation sequencing (mngs)
MeSH terms: Case Reports

Parasitic co-infection is commonly observed in natural populations, yet rare in the laboratory. Multiparasitism can have negative effects on the host, ranging from the atypical manifestations to increased mortality, consequently, it may be misdiagnosed and treated with unsuitable anthelmintic medicines. Therefore, reliable diagnosis is critical for appropriate treatment of parasitic co-infection. Herein, we report a case of a 31-year-old woman with persistent eosinophilia and hypoechoic liver lesion on ultrasound. The microscopic examination of multiple stool specimens did not find any pathogens. The patient had serum specific anti-Trichinella IgG antibody by Dot enzyme-linked immunosorbent assay (Dot-ELISA). After treatment with albendazole, contrast-enhanced magnetic resonance imaging (MRI) revealed more lesions in the liver. Subsequently, liver biopsy was performed in this patient and Fasciola hepatica was identified using metagenomic next-generation sequencing (mNGS) as well as polymerase chain reaction. After treatment with triclabendazole, which is the only anthelmintic drug specifically available against this fluke, her eosinophil count returned normal, and the liver lesions were significantly regressed. This case highlights the diagnostic challenge posed by parasitic co-infection, which merits more in-depth evaluation to confirm the diagnosis.
Opsoclonus-myoclonus syndrome associated with multiple system atrophy
Authors: Kazumasa Shindo, Akiko Onohara, Takanori Hata, Fumikazu Kobayashi, Kaori Nagasaka, Takamura Nagasaka, Yoshihisa Takiyama
Journal: Cerebellum Ataxias (2014)
Keywords: cerebellar vermis, multiple system atrophy, ocular symptom, opsoclonus-myoclonus syndrome, pontine reticular formation
MeSH terms: Case Reports

Opsoclonus-myoclonus syndrome (OMS) is well known as a paraneoplastic syndrome or as a parainfectious neurologic complication. However, OMS associated with a neurodegenerative disorder has not been described previously. A 48-year-old woman had been diagnosed as multiple system atrophy-parkinsonian type (MSA-P) based on the findings of dopamine non-responsive parkinsonism with autonomic failure and typical findings on magnetic resonance imaging 5 years ago. She exhibited recurrent asynchronous and arrhythmic myoclonic movements of the upper limbs and abdomen with a very short duration, and involuntary eye movements, which were repetitive, rapid, random, multidirectional, conjugate saccades of irregular amplitude and frequency at rest. Based on hematological and radiological findings, the diagnosis was advanced MSA-P associated with OMS. As far as we are aware, there have not been any previous reports of such a case.