OpenMed/multicare-articles huggingface dataset:
Periodontal considerations for Glanzmann's thrombasthenic patient
Authors: Umesh Yadalam, K Kranti, Hema Seshan
Journal: J Indian Soc Periodontol (2008)
Keywords: medically compromised, periodontal, thrombasthenia
MeSH terms: Case Reports

Glanzmann's thrombasthenia (GT) was reported and described as a bleeding diathesis seen in children and characterized by diminished clot retraction. The disorder is caused by a deficiency in the platelet membrane glycoprotein IIb-IIIa complex, with bleeding due to defective platelet hemostatic plug formation. The recurrent features of GT include purpura, epistaxis, gingival hemorrhage, and menorrhagia. GT being an autosomal recessive trait is reported to be especially prevalent in populations where intermarriage is common. Typically, the patients are diagnosed in infancy within the age of five. Though no differences appear to occur based on sex men more frequently present with gingival bleeding. We report the case of a female patient with GT who presented with the chief complaint of gingival bleeding. The patient was given periodontal treatment under platelet transfusion followed by proper oral hygiene instructions. The report discusses periodontal consideration for GT patients.
Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis
Authors: Kimia Najafi, Roxana Kariminejad, Kaveh Hosseini, Azadeh Moshtagh, Gole Maryam Abbassi, Neda Sadatian, Masood Bazrgar, Ariana Kariminejad, Mohamad Hassan Kariminejad
Journal: Case Rep Genet (2017)
MeSH terms: Case Reports

Introduction. Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive hypomyelinating leukodystrophy characterized by nystagmus, spastic quadriplegia, ataxia, and developmental delay. It is caused by mutation in the PLP1 gene. Case Description. We report a 9-year-old boy referred for oligoarray comparative genomic hybridization (OA-CGH) because of intellectual delay, seizures, microcephaly, nystagmus, and spastic paraplegia. Similar clinical findings were reported in his older brother and maternal uncle. Both parents had normal phenotypes. OA-CGH was performed and a 436 Kb duplication was detected and the diagnosis of PMD was made. The mother was carrier of this 436 Kb duplication. Conclusion. Clinical presentation has been accepted as being the mainstay of diagnosis for most conditions. However, recent developments in genetic diagnosis have shown that, in many congenital and sporadic disorders lacking specific phenotypic manifestations, a genotype-to-phenotype approach can be conclusive. In this case, a diagnosis was reached by universal genomic testing, namely, whole genomic array.
Case of the month 1-2019: CNS high-grade neuroepithelial tumor with BCOR alteration
Authors: Christine Haberler, Lilla Reiniger, Hajnalka Rajnai, Ognian Kalev, Ellen Gelpi, Melanie Tamesberger, Torsten Pietsch
Journal: Clin Neuropathol (2019)
MeSH terms: Brain Neoplasms / genetics, Brain Neoplasms / pathology, Neoplasms, Neuroepithelial / genetics, Neoplasms, Neuroepithelial / pathology, Proto-Oncogene Proteins / genetics, Repressor Proteins / genetics, Case Reports, Child, Preschool, Humans, Male, BCOR protein, human, Proto-Oncogene Proteins, Repressor Proteins

No abstract available.
A Rare Case of Digital Ischemia and Gangrene in ANCA-Associated Vasculitis with Review of the Literature
Authors: Richard A Lau, Ramandeep Bains, Duminda Suraweera, Jane Ma, Emil R Heinze, Andrew L Wong, Philip J Clements
Journal: Case Rep Rheumatol (2017)
MeSH terms: Case Reports

This paper describes one patient with Antineutrophil Cytoplasmic Antibody- (ANCA-) associated vasculitis who initially presented with multiple ischemic fingers and toes. On further evaluation, the patient was also found to have pulmonary-renal involvement and episcleritis. The diagnosis was supported with a positive cANCA (anti-proteinase 3) and a bronchoscopy consistent with diffuse alveolar hemorrhage. Although the patient refused a tissue biopsy, clinical presentation including nasal ulceration, sinus congestion, and epistaxis and anti-proteinase 3 antibody were more consistent with Granulomatosis with Polyangiitis (GPA) rather than Microscopic Polyangiitis (MPA) or Eosinophilic Granulomatosis with Polyangiitis (EGPA) based on the recently presented ACR/EULAR Provisional 2017 Classification Criteria for GPA (Luqmani et al., 2016). The patient responded well to therapy including high dose steroids and cyclophosphamide, with improvement of all organs involved and had no further digital ischemia or gangrene on follow-up. We include a review of the English literature summarizing presentation, management, and outcome of 16 similar cases.
Rare Case of Community-Acquired Endocarditis Caused by Neisseria meningitidis Assessed by Clinical Metagenomics
Authors: Vassili Choutko, Vladimir Lazarevic, Nadia Gaïa, Myriam Girard, Gesuele Renzi, Stefano Leo, Peter M Keller, Christoph Huber, Jacques Schrenzel
Journal: Front Cardiovasc Med (2019)
Keywords: neisseria meningitidis, cardiac valve, clinical metagenomics, culture-negative infection, endocarditis, next-generation sequencing
MeSH terms: Case Reports

The most common causes of infective endocarditis (IE) are Staphylococcus, Streptococcus, Enterococcus, and HACEK-related organisms. In 15-30% of the IE cases, standard blood cultures remain sterile. We aimed at identifying the causative agent of a blood-culture-negative IE by whole metagenome shotgun sequencing (WMGS). A 54-year old woman diagnosed with community-onset pneumonia by a general practitioner, was admitted with dyspnea, cough and fever. The patient's blood cultures were repeatedly negative. The transesophageal echocardiography and transthoracic echocardiography showed an echo density on the left coronary leaflet of the aortic valve and signs suggestive of a ruptured abscess of the mitro-aortic junction. The patient underwent a semi-urgent aortic valve replacement by a mechanical prosthetic valve. We extracted DNA from the surgically-removed fresh valve tissue. The extraction procedure included bacterial/fungal DNA enrichment procedure. Nextera XT library prepared from the valve DNA extract was sequenced (2 × 250) on an Illumina MiSeq instrument. Sequence reads were mapped against bacterial genomic sequences, 16S rRNA genes and clade-specific taxonomic markers. Most of the 103,136 sequencing reads classified as bacterial were assigned to Neisseria meningitidis. In line with these data, mapping of reads against clade-specific and 16S rRNA gene markers revealed N. meningitidis as the most represented species. Assembled metagenomic fragments had the best average nucleotide identity (ANI) with N. meningitidis. Comparison of assembled contigs to reference alleles showed that this strain belongs to the ST-41/44 complex. N. meningitidis is commonly associated with meningitis and/or septicemia but should not be neglected as a causative agent of IE, which became exceedingly rare with the introduction of antibiotics. Our data show that WMGS may be used as a diagnostic procedure to strengthen the diagnosis of IE and to obtain draft genomic sequence of the pathogen and typing information.
Case report: Recurrence of hypertension after renal artery angioplasty due to the progression of focal renal fibromuscular dysplasia
Authors: Mona Hong, Yuanyuan Kang, Jianzhong Xu, Jiguang Wang
Journal: Front Cardiovasc Med (2022)
Keywords: fibromuscular dysplasia (fmd), hypertension, in-stent restenosis, progression, renal artery
MeSH terms: Case Reports

Whether fibromuscular dysplasia (FMD) is a progressive disease, remains unclear. We reported a case of focal renal artery FMD that slowly progressed to a branching artery over a few years after the angioplasty without in-stent restenosis, which reconfirms that focal FMD is progressive and that such progression may be segmental. Stenting may be an option for young, risk factor-free patients with focal FMD.
Chair-Side Direct Microscopy Procedure for Diagnosis of Oral Candidiasis in an Adolescent
Authors: Mathieu Lemaitre, Sarah Cousty, Mathieu Marty
Journal: Case Rep Dent (2018)
MeSH terms: Case Reports

Oral candidiasis is caused by fungi of the genus Candida and one of the most common opportunistic fungal infections of the human oral cavity. Given the clinical variability of this disease, microbiological techniques are often required for clinical confirmation, as well as establishing a differential diagnosis with other diseases. The aim of this brief technical report is to illustrate a simple chair-side method, which can provide immediate microscopic diagnosis of this disease. We present the case of a 14-year-old boy suffering from a denture-related erythematous stomatitis, diagnosed and followed-up with a simplified direct microscopy technique. It enables an accurate diagnosis with a noninvasive and painless sampling method, linked to laboratory results.
Surgical Management of Extrafollicular Variant of Adenomatoid Odontogenic Tumor in the Maxillary Posterior Region
Authors: Gerardo La Monaca, Nicola Pranno, Cira Rosaria Tiziana di Gioia, Giorgio Pompa, Iole Vozza, Maria Paola Cristalli
Journal: Case Rep Dent (2019)
MeSH terms: Case Reports

Background:
Adenomatoid odontogenic tumor (AOT) is a relatively uncommon benign neoplasm of odontogenic epithelial origin, accounting for less than 5% of odontogenic tumors.
Case report:
The reported case describes morphological characteristics, clinical course, radiographic and histopathological features, and surgical therapy of an extrafollicular variant of AOT in the maxillary posterior region. An asymptomatic swelling on the left side in the posterior region of the maxilla, gradually increased since approximately 12 months, developed in a 16-year-old Caucasian female patient. Radiographic images revealed a well-defined, unilocular radiolucency, with some small foci of radiopacity inside, and root resorption of the first and second molars. On the base of the histological examination of the specimen retrieved by incisional biopsy, the diagnosis of AOT was made, and the conservative surgical enucleation of the lesion was performed.
Discussion:
The present case was reported in agreement with an extensive review, in which it was recommended to discontinue reporting classic follicular cases because their clinicopathological profile was well-known, but to continue reporting well-documented cases of the extrafollicular variant, with indication of the exact position.
Conclusion:
The present case was reported in order to expand the knowledge about the clinical behavior and surgical treatment of the extrafollicular variant of AOT.
Balloon atrial septostomy through internal jugular vein in a 45-day-old child with transposition of great arteries
Authors: Sumanta S Padhi, Kinjal D Bakshi, Avinash P Londhe
Journal: Ann Pediatr Cardiol (2010)
Keywords: balloon atrial septostomy, internal jugular vein, transposition of great arteries
MeSH terms: Case Reports

Balloon atrial septostomy is a common palliative procedure in D-transposition of great arteries. It is technically easy before 2-3 weeks of age when the septum primum is thin. Femoral vein or umbilical vein, when available, is the common access used for this procedure. In situations when these accesses are not available or in case of inferior vena cava interruption, trans-hepatic access is used. Internal jugular vein (IJV) access is not used as it is difficult to enter the left atrium through this route. We describe a case of successful Balloon atrial septostomy done through IJV in a 45-day-old child with emphasis on the technique, hardware and precautions necessary during the procedure.
Tracheal Resection for Critical Airway Obstruction in Morquio A Syndrome
Authors: Claire Frauenfelder, Elizabeth Maughan, Johnny Kenth, Reema Nandi, Simon Jones, Robert Walker, Bill Walsh, Nagarajan Muthialu, Iain Bruce, Richard Hewitt, Colin Butler
Journal: Case Rep Pediatr (2023)
MeSH terms: Case Reports

Introduction:
The primary cause of death in Morquio A syndrome (mucopolysaccharidosis (MPS) IVA) is airway obstruction, brought about by an inexorable and pathognomonic multilevel airway tortuosity, buckling, and obstruction. The relative pathophysiological contributions of an inherent cartilage processing defect versus a mismatch in longitudinal growth between the trachea and the thoracic cage are currently a subject of debate. Enzyme replacement therapy (ERT) and multidisciplinary management continue to improve life expectancy for Morquio A patients by slowing many of the multisystem pathological consequences of the disease but are not as effective at reversing established pathology. An urgent need has developed to consider alternatives to palliation of progressive tracheal obstruction to preserve and maintain these patients' hard-won good quality of life, as well as to facilitate spinal and other required surgery. Case Report. Following multidisciplinary discussion, transcervical tracheal resection with limited manubriectomy was successfully performed, without the need for cardiopulmonary bypass, in an adolescent male on ERT with the severe airway manifestations of Morquio A syndrome. His trachea was found to be under significant compressive forces at surgery. On histology, chondrocyte lacunae appeared enlarged, but intracellular lysosomal staining and extracellular glycosaminoglycan staining was comparable to control trachea. At 12 months, this has resulted in a significant improvement in respiratory and functional status, with corresponding enhancement to his quality of life.
Conclusion:
This addressing of tracheal/thoracic cage dimension mismatch represents a novel surgical treatment approach to an existing clinical paradigm and may be useful for other carefully selected individuals with MPS IVA. Further work is needed to better understand the role and optimal timing of tracheal resection within this patient cohort so as to individually balance considerable surgical and anaesthetic risks against the potential symptomatic and life expectancy benefits.
Chronic granulomatous disease associated with Duchenne muscular dystrophy caused by Xp21.1 contiguous gene deletion syndrome: Case report and literature review
Authors: Shaohua Bi, Liying Dai, Liangliang Jiang, Lili Wang, Mia Teng, Guanghui Liu, Ru-Jeng Teng
Journal: Front Genet (2023)
Keywords: duchenne muscular dystrophy, chronic granulomatous disease, contiguous gene deletion syndrome, hypertriglyceridemia, neonatal sepsis
MeSH terms: Case Reports

Chronic granulomatous disease (CGD) and Duchenne muscular dystrophy (DMD) are X-linked recessive disorders whose genes are 4.47 Mb apart within Xp21.1. A combination of both diseases is rare with only five cases reported in the literature where it is known as Xp21.1 "contiguous gene deletion syndrome". We describe a male neonate who presented with sepsis at 19 days of age. The diagnosis of CGD with DMD was established through copy number variation sequencing (CNV-seq) with an extensive 7.5 Mb deletion of Xp21.2-Xp11.4 of the proband. One of his elder sisters and his mother are carriers. The deletion includes six known genes: glycerol kinase (GK), dystrophin (DMD), cilia- and flagella-associated protein 47 (CFAP47), gp91 (CYBB), Kell antigen (XK), and retinitis pigmentosa GTPase regulator (RPGR). Laboratory assays revealed an increased creatine kinase (CK) level, decreased gp91 expression, and a positive nitroblue tetrazolium test. Due to the extensive gene deletion and the poor prognosis, the family determined to pursue conservative management without further laboratory workup. The patient passed away from a fulminant infection at the age of three-month at a local medical facility. To the best of our knowledge, this case of Xp21.1 contiguous gene deletion syndrome represents the most extensive deletion of genes in this region ever reported. A literature review of similar cases is presented.
Identifying main finding sentences in clinical case reports
Authors: Mengqi Luo, Aaron M Cohen, Sidharth Addepalli, Neil R Smalheiser
Journal: Database (Oxford) (2020)
MeSH terms: Data Mining / methods, Machine Learning, Medical Records / classification, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Humans, Natural Language Processing, Software

Clinical case reports are the 'eyewitness reports' of medicine and provide a valuable, unique, albeit noisy and underutilized type of evidence. Generally, a case report has a single main finding that represents the reason for writing up the report in the first place. However, no one has previously created an automatic way of identifying main finding sentences in case reports. We previously created a manual corpus of main finding sentences extracted from the abstracts and full text of clinical case reports. Here, we have utilized the corpus to create a machine learning-based model that automatically predicts which sentence(s) from abstracts state the main finding. The model has been evaluated on a separate manual corpus of clinical case reports and found to have good performance. This is a step toward setting up a retrieval system in which, given one case report, one can find other case reports that report the same or very similar main findings. The code and necessary files to run the main finding model can be downloaded from https://github.com/qi29/main_ finding_recognition, released under the Apache License, Version 2.0.
A rare case of ascending colon actinomycosis mimicking cancer
Authors: Dimitrios Filippou, Ioannis Psimitis, Diamanto Zizi, Spiros Rizos
Journal: BMC Gastroenterol (2005)
MeSH terms: Actinomycosis / diagnosis, Colon, Ascending / microbiology, Colonic Diseases / diagnosis, Colonic Neoplasms / diagnosis, Case Reports, Actinomycosis / complications, Actinomycosis / diagnostic imaging, Actinomycosis / pathology, Actinomycosis / surgery, Aged, Colectomy, Colon, Ascending / surgery, Colonic Diseases / complications, Colonic Diseases / diagnostic imaging, Colonic Diseases / pathology, Colonic Diseases / surgery, Diagnosis, Differential, Female, Humans, Intestinal Obstruction / etiology, Intestinal Obstruction / surgery, Tomography, X-Ray Computed

Background:
Actinomycosis is a rare inflammatory disease caused by an anaerobic bacterium that can rarely affect the large intestine.
Case presentation:
We present a rare case of a cecum and ascending colon actinomycosis in a 72 years old woman, mimicking clinically a malignant inflammatory tumor of the right colon. The patient complained of right lower quadrant pain. Although our first thought was a peri-appendiceal abscess, CT scan suggested a right colon tumor. The patient underwent a right colectomy and the histological examination of the specimen revealed colon actinomycosis.
Conclusions:
Preoperative diagnosis in colon actinomycosis is difficult to achieve. Treatment of choice is antibiotics administration. A review of the possible pathogenesis and therapeutic modalities is also presented.
Case Report: Low Rectal Cancer With Incidental Pelvic Solitary Kidney
Authors: Xiang Zhang, Chang Chen, Kexin Wang, Yong Dai, Yanlei Wang
Journal: Front Surg (2022)
Keywords: 3d reconstitution, case report, laparoscopy, pelvic kidney, rectal cancer
MeSH terms: Case Reports

Purpose:
Concurrence of pelvic solitary kidney and rectal cancer is a rare phenomenon. The presence of the kidney in a narrow pelvic cavity represents a great challenge for total mesenteric excision (TME) under laparoscopy.
Methods:
We reported a male patient with low rectal cancer and incidental pelvic solitary kidney and reviewed relevant literature.
Results:
The patient was successfully treated with laparoscopic surgery and was discharged on day 6 postoperatively without severe complications.
Conclusion:
This case suggests the feasibility of laparoscopic TME with pelvic solitary kidney in a certain male patient with rectal cancer and emphasizes the importance of comprehensive preoperative radiological evaluation, a multidiscipline team, and careful intraoperative dissection.
Periorbital edema as initial manifestation of chronic cutaneous lupus erythematosus
Authors: Samar Erras, Laila Benjilali, Lamiaa Essaadouni
Journal: Pan Afr Med J (2012)
Keywords: anti-dna antibodies, cutaneous lupus, morocco, systemic lupus erythematosus, periorbital edema
MeSH terms: Edema / etiology, Lupus Erythematosus, Discoid / complications, Lupus Erythematosus, Discoid / diagnosis, Orbital Diseases / etiology, Case Reports, Adult, Female, Humans

Periorbital edema occurs frequently in dermatomyositis, but it has rarely been noted in systemic systemic lupus erythematosus. We describe a patient who developed bilateral periorbital edema and erythema as the sole manifestation of systemic lupus erythematosus.
Effect of Osimertinib in Combination With Chemotherapy and Bevacizumab for Untreated Epidermal Growth Factor Receptor-Mutated Advanced Non-Small-Cell Lung Cancer: Case Report
Authors: Haifeng Qin, Fang Wang, Zhen Zeng, Suting Jia, Yuan Liu, Hongjun Gao
Journal: Front Pharmacol (2021)
Keywords: egfr, l858r, nsclc, osimertinib, bevacizumab, combined therapy
MeSH terms: Case Reports

Introduction: Osimertinib is an oral, third-generation, irreversible epidermal growth factor receptor tyrosine kinase inhibitor (EGFR-TKI) that selectively inhibits both EGFR-TKI-sensitizing and EGFR T790M resistance mutations. However, whether patients with EGFR mutations can be treated by osimertinib in combination with conventional therapies, remains unknown. Case presentation: We treated a 67-year-old female diagnosed with non-small-cell lung cancer with an EGFR 21 exon L858R-positive mutation. The patient was treated with 80 mg orally administered osimertinib daily, 830 mg pemetrexed, 120 mg cisplatin, and 500 mg bevacizumab. After two cycles of therapy, the patient's intrapulmonary lesions shrank from 18 × 24 mm to 16 × 4 mm. Moreover, two cycles of evaluation were PR, and four cycles of confirmation were PR. The patient continued to receive the treatments and tolerated them well. Conclusions: The patient benefited from treatment with osimertinib in combination with chemotherapy and bevacizumab.
A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy
Authors: M C J Dekker, A M Sadiq, R Mc Larty, R M Mbwasi, M A A P Willemsen, H R Waterham, B C Hamel
Journal: Case Rep Genet (2019)
MeSH terms: Case Reports

Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder with classical features, which can be also recognised in a low resource setting. It had been described in various populations across the globe, but very few cases have been reported from Africa. In a boy with features of a progressive central nervous system condition and adrenal failure, ABCD1 gene screening was performed based on a clinical history and basic radiological features which were compatible with ALD. A common ABCD1 mutation was identified in this patient, which is the first report of genetically confirmed ALD in Sub-Saharan Africa. ALD is likely under recognised in those areas where there is no neurologist. This genetic confirmation widens geographical distribution of ABCD1-associated disease, and illustrates recognisability of this disorder, even when encountered in a low-resource environment.