OpenMed/multicare-articles huggingface dataset:
The Association in Myopic Tractional Maculopathy With Myopic Atrophy Maculopathy
Authors: Jiaxin Tian, Yue Qi, Caixia Lin, Kai Cao, Ningli Wang
Journal: Front Med (Lausanne) (2021)
Keywords: association, characteristics, fundus images, myopic atrophy maculopathy, myopic tractional maculopathy, optical coherence tomography

Purpose: To investigate the relationship between myopic tractional maculopathy (MTM) and myopic atrophy maculopathy (MAM). Method: Two hundred and six eyes with definitive myopic retinoschisis were assessed in the retrospective observational case series study and the atrophic and tractional features were further evaluated. Atrophic changes were analyzed according to the atrophic component in the ATN classification and the occurrence of gamma zones and delta zones. Tractional changes were evaluated based on different retinoschisis layers, the location and range of outer retinoschisis, retinal detachment, inner lamellar macular hole (ILMH), outer lamellar MH (OLMH), full-thickness MH (FTMH), and paravascular abnormalities. Results: Of all the eyes, 29.6, 42.7, 19.4, and 8.3% presented MAM grades with A1, A2, A3, and A4, respectively. The three layers of retinoschisis and the entire macular retinoschisis had the highest incidences in A2 (38.6%; 54.5%). The numbers of retinoschisis layers and the grades of outer retinoschisis had a weak negative correlation with MAM (r = -0.138, P = 0.048; r = -0.139, P = 0.047). All the eyes had gamma zones, and 82.52% of eyes also had delta zones. The incidence of retinal detachment and OLMH reached the peak in A2 and then decreased gradually. With MAM aggravation, the prevalence of ILMH decreased. Eyes with A1 and A2 were more likely to have OLMH, and those with A3 and A4 were more likely to have FTMH (P = 0.028; OR, 3.423; 95% CI, 1.144-10.236; P = 0.004; OR, 7.752; 95% CI, 1.951-30.803). With the MAM grades growing, the types of paravascular abnormalities increased (r = 0.165, P = 0.018). Conclusion: Diffuse chorioretinal atrophy was the dominant MAM grade in eyes with MTM. In the study, 72.3% of eyes with MTM presented with diffuse chorioretinal atrophy and a tessellated fundus. Over 80% of eyes with MTM had both gamma zones and delta zones. Diffuse chorioretinal atrophy might be a complicated stage for MTM with the highest rate of three layers of retinoschisis, the entire macular retinoschisis, RD, and OLMH. Atrophic progression might involve the development of MH. When MTM combines with well-defined atrophy, the occurrence of FTMH should be noted.
Case report: Oral anticoagulant combined with percutaneous coronary intervention for peripheral embolization of left ventricular thrombus caused by myocardial infarction in a patient with diabetes mellitus
Authors: Chao Zhu, Li Zhou, Hongli Gao, Jiali Wang, Jiayu Li, Hui Chen, Hongwei Li
Journal: Front Cardiovasc Med (2022)
Keywords: diabetes mellitus, left ventricular thrombus, myocardial infarction, oral anticoagulant, peripheral embolization
MeSH terms: Case Reports

Background:
Left ventricular thrombus (LVT) is a well-recognized complication of myocardial infarction (MI) in patients with diabetes. An embolic complication caused by LVT is a key clinical problem and is associated with worsened long-term survival.
Case presentation:
A 45-year-old man with persistent left abdominal pain for 1 week and left leg fatigue was admitted to the emergency department. The cause of abdominal pain was embolism of the renal artery, the splenic artery, and the superior mesenteric artery caused by cardiogenic thrombosis, which further led to splenic infarction and renal infarction. It was unclear when MI occurred because the patient had no typical critical chest pain, which may have been related to diabetic complications, such as diabetic peripheral neuropathy. Diabetes plays a pivotal role in MI and LVT formation. Because coronary angiography suggested triple vessel disease, percutaneous transluminal coronary angioplasty (PTCA) was conducted, and two drug-eluting stents were placed in the left anterior descending coronary artery (LAD). Due to a lack of randomized clinical control trials, the therapy of LVT and associated embolization has been actively debated. According to the present guidelines, this patient was treated with low-molecular-weight heparin and warfarin (oral anticoagulants) for 3 months in addition to aspirin (100 mg/day) and clopidogrel (75 mg/day) for 1 year. No serious bleeding complications were noted, and a follow-up examination showed no thrombus in the left ventricle or further peripheral thrombotic events.
Conclusion:
Peripheral embolization of LVT caused by MI leading to multiple organ embolization remains a rare occurrence. Diabetes plays a pivotal role in MI and LVT formation. Successful revascularization of the infarct-related coronary artery and anticoagulation therapy is important to minimize myocardial damage and prevent LVT. The present case will help clinicians recognize and manage LVT in patients with diabetes and related peripheral arterial thrombotic events with anticoagulation.
Acute Primary Adrenal Insufficiency after Hip Replacement in a Patient with Acute Intermittent Porphyria
Authors: Adele Latina, Massimo Terzolo, Anna Pia, Giuseppe Reimondo, Elena Castellano, Micaela Pellegrino, Giorgio Borretta
Journal: Case Rep Endocrinol (2018)
MeSH terms: Case Reports

Adrenal insufficiency is a potentially life-threatening condition when it occurs acutely, as in adrenal hemorrhage. Generally it is not reversible and requires chronic replacement therapy. Acute intermittent porphyria (AIP) is a rare genetic disease characterized by alterations in heme biosynthesis that result in accumulation of precursors in tissues. A crisis can be triggered by many conditions such as surgery and infections. Symptoms are similar to those of acute hypoadrenalism. Moreover, both conditions are characterized by hyponatremia. We describe the case of a postmenopausal woman known to be affected by AIP who developed after surgery a primary adrenal insufficiency associated with adrenal enlargement; the latter completely reverted in six months.
Is Conservative Surgery the Best Approach for Peripheral Calcifying Epithelial Odontogenic Tumors?
Authors: Isadora Luana Flores, Tissiana Rachel Rossi Schneider, Ana Carolina Uchoa Vasconcelos, Sandra Beatriz Chaves Tarquinio, Ricardo Alves de Mesquita, Ana Paula Neutzling Gomes
Journal: Open Dent J (2018)
Keywords: calcifying epithelial odontogenic tumor, clear cell, oral diagnosis, peripheral, surgery, treatment
MeSH terms: Review

Background:
Peripheral Calcifying Epithelial Odontogenic Tumors (CEOT) rich in clear cells are a rare entity in the oral cavity, with only 14 previous case reports in the English literature. None have discussed recommended treatment approaches for extraosseous CEOT.
Objective:
This brief descriptive review describes a treatment approach for peripheral CEOT including the clear cell variant.
Study design:
A complete review of all well-documented extraosseous case reports with an emphasis on the treatment was performed. Additionally, the present article reports a case of a 21-year-old woman with an asymptomatic swelling in the gingiva finally diagnosed as peripheral CEOT abundant in clear cells.
Results:
Twenty-four cases of peripheral CEOT were described; conservative surgery was the first treatment approach in approximately 80% of cases, with only one recurrence.
Discussion:
Clear cell finding was not associated with more aggressive behavior.
Conclusion:
Conservative surgery may be an advantageous approach for this group of peripheral lesions with or without clear cells, with a recurrence rate of approximately 4%.
Case Report: Identification of Novel Variants in ERCC4 and DDB2 Genes in Two Tunisian Patients With Atypical Xeroderma Pigmentosum Phenotype
Authors: Imen Nabouli, Asma Chikhaoui, Houcemeddine Othman, Sahar Elouej, Meriem Jones, Arnaud Lagarde, Meriem Ben Rekaya, Olfa Messaoud, Mohamed Zghal, Valerie Delague, Nicolas Levy, Annachiara De Sandre-Giovannoli, Sonia Abdelhak, Houda Yacoub-Youssef
Journal: Front Genet (2021)
Keywords: ddb2 gene, ercc4/xpf, ner defects, skin cancer, xeroderma pigmentosum
MeSH terms: Case Reports

Xeroderma Pigmentosum (XP) is a rare genetic disorder affecting the nucleotide excision repair system (NER). It is characterized by an extreme sensitivity to sunlight that induces cutaneous disorders such as severe sunburn, freckling and cancers. In Tunisia, six complementation groups have been already identified. However, the genetic etiology remains unknown for several patients. In this study, we investigated clinical characteristics and genetic defects in two families with atypical phenotypes originating from the central region in Tunisia. Clinical investigation revealed mild cutaneous features in two patients who develop multiple skin cancers at later ages, with no neurological disorders. Targeted gene sequencing revealed that they carried novel variants. A homozygous variation in the ERCC4 gene c.1762G>T, p.V588F, detected in patient XP21. As for patient XP134, he carried two homozygous mutations in the DDB2 gene c.613T>C, p.C205R and c.618C>A, p.S206R. Structural modeling of the protein predicted the identified ERCC4 variant to mildly affect protein stability without affecting its functional domains. As for the case of DDB2 double mutant, the second variation seems to cause a mild effect on the protein structure unlike the first variation which does not seem to have an effect on it. This study contributes to further characterize the mutation spectrum of XP in Tunisian families. Targeted gene sequencing accelerated the identification of rare unexpected genetic defects for diagnostic testing and genetic counseling.
Case report: Fractional brain tumor burden magnetic resonance mapping to assess response to pulsed low-dose-rate radiotherapy in newly-diagnosed glioblastoma
Authors: Ryan F Amidon, Fernando Santos-Pinheiro, Michael Straza, Melissa A Prah, Wade M Mueller, Max O Krucoff, Jennifer M Connelly, Christopher J Kleefisch, Dylan J Coss, Elizabeth J Cochran, Joseph A Bovi, Christopher J Schultz, Kathleen M Schmainda
Journal: Front Oncol (2022)
Keywords: mri, fractional tumor burden (ftb), glioblastoma, pseudoprogression, pulsed low-dose-rate radiotherapy (pldr), relative cerebral blood volume (rcbv), treatment effect, tumor progression
MeSH terms: Case Reports

Background:
Pulsed low-dose-rate radiotherapy (pLDR) is a commonly used reirradiation technique for recurrent glioma, but its upfront use with temozolomide (TMZ) following primary resection of glioblastoma is currently under investigation. Because standard magnetic resonance imaging (MRI) has limitations in differentiating treatment effect from tumor progression in such applications, perfusion-weighted MRI (PWI) can be used to create fractional tumor burden (FTB) maps to spatially distinguish active tumor from treatment-related effect.
Methods:
We performed PWI prior to re-resection in four patients with glioblastoma who had undergone upfront pLDR concurrent with TMZ who had radiographic suspicion for tumor progression at a median of 3 months (0-5 months or 0-143 days) post-pLDR. The pathologic diagnosis was compared to retrospectively-generated FTB maps.
Results:
The median patient age was 55.5 years (50-60 years). All were male with IDH-wild type (n=4) and O6-methylguanine-DNA methyltransferase (MGMT) hypermethylated (n=1) molecular markers. Pathologic diagnosis revealed treatment effect (n=2), a mixture of viable tumor and treatment effect (n=1), or viable tumor (n=1). In 3 of 4 cases, FTB maps were indicative of lesion volumes being comprised predominantly of treatment effect with enhancing tumor volumes comprised of a median of 6.8% vascular tumor (6.4-16.4%).
Conclusion:
This case series provides insight into the radiographic response to upfront pLDR and TMZ and the role for FTB mapping to distinguish tumor progression from treatment effect prior to redo-surgery and within 20 weeks post-radiation.
Case report: Variants in the ERCC4 gene as a rare cause of cerebellar ataxia with chorea
Authors: Joanna Kulikowska, Anna Jakubiuk-Tomaszuk, Małgorzata Rydzanicz, Rafał Płoski, Jan Kochanowicz, Alina Kulakowska, Katarzyna Kapica-Topczewska
Journal: Front Genet (2023)
Keywords: ercc4, ner (nucleotide excision repair), ataxia, brain atrophy, chorea, gene variant
MeSH terms: Case Reports

Variants in the ERCC4 gene have been described to be associated with the following autosomal recessive diseases: xeroderma pigmentosum group F (XPF), xeroderma pigmentosum type F/Cockayne syndrome (XPF/CS), Fanconi anemia complementation group Q (FANCQ), and XFE progeroid syndrome (XFEPS). In this paper, we present a case of a 53-year-old Caucasian female patient with rare variants in the ERCC4 gene. When she was 42 years old, falls and loss of balance occurred. At the age of 48, involuntary, uncoordinated movements of the upper limbs and head, tongue stereotypes (licking and extending movements), speech problems (dysarthria), memory deterioration, and hearing loss occurred. Since childhood, she has shown hypersensitivity to UV radiation. The neurological examination revealed chorea syndrome, cerebellar ataxia, dysarthria, and bilateral hearing loss. She has numerous pigmented lesions on the skin. Brain MRI demonstrated massive cortico-subcortical atrophy. The neuropsychological examination revealed dysfunctions in the executive domain in terms of attention, working memory, organizing, and planning activities. The genetic diagnostics was performed which excluded spinocerebellar ataxia types 1, 2, 3, 6, and 17, Huntington's disease, and FMR1 premutation. In the genetic analysis of next-generation sequencing (NGS), two variants: c.2395C > T and c.1349G > A in the ERCC4 gene were identified in a heterozygote configuration. So far, a few cases of ERCC4 gene variants, which are associated with nucleotide excision repair pathways, have been described in connection with symptoms of cerebellar ataxia. In patients with ERCC4 biallelic variants, the adult neurological phenotype can sometimes be the first symptom and reason for access to genetic testing. The aforementioned case highlights the occurrence of rare genetic causes of progressive neurodegenerative diseases in adults, especially with the spectrum of autosomal recessive nucleotide excision repair pathway disorders (NERDs).
Multidrug Resistant Brain Abscess Due to Acinetobacter baumannii Ventriculitis Cleared by Intraventricular and Intravenous Tigecycline Therapy: A Case Report and Review of Literature
Authors: Wenyong Long, Jian Yuan, Jingping Liu, Jinfang Liu, Ming Wu, Xin Chen, Gang Peng, Changwu Wu, Chi Zhang, Xiangyu Wang, Wei Zhao, Qing Liu
Journal: Front Neurol (2018)
Keywords: acinetobacter baumannii, intracranial infection, multidrug-resistant, tigecycline therapy, ventriculitis
MeSH terms: Case Reports

Objective: Ventricular infection from multidrug-resistant (MDR) Acinetobacter baumannii (A. baumannii) is one of the most severe complications of craniotomy. However, the availability of effective therapeutic options for these infections is limited. Thus, this report aims to describe the efficacy of abscess clearance by intraventricular and intravenous tigecycline therapy in managing patients with multidrug-resistant A. baumannii ventriculitis after neurosurgery. Moreover, the current literature on the use of tigecycline therapy for these life-threatening infections is reviewed and summarized, and a treatment regimen based on the available data is proposed. Methods: A patient with multidrug-resistant A. baumannii ventriculitis was admitted in our hospital and was provided with a detailed therapeutic schedule. Tigecycline treatments for multidrug-resistant A. baumannii ventriculitis that were reported in the literature were also reviewed and summarized. Results: The patient in our hospital underwent abscess clearance on a ventriculoscope and was subsequently subjected to multi-route tigecycline therapy 14 days after the start of the continuous ventricular irrigation (CVI) tigecycline and 3 days after the intraventricular (IVT) tigecycline. The signs of ventriculitis disappeared, and the Acinetobacter cerebrospinal fluid (CSF) load steadily decreased until CSF sterilization. Literature review identified seven cases of ventricular infection from multidrug-resistant A. baumannii treated with tigecycline. In the eight cases, all patients were male adults (>18 years), with a mean age of 46.1 (range: 22-75) years. Meningitis/ventriculitis was secondary to neurosurgery procedures for the management of various central nervous system diseases in all cases. A good clinical outcome was achieved in all eight patients with multidrug-resistant A. baumannii meningitis/ventriculitis treated with CVI and/or IVT tigecycline, and any relevant complications were not observed. Conclusions: CVI and IVT tigecycline and IVT colistin could be considered as the first-line therapy in patients with ventricular infections from MDR/extreme drug-resistant A. baumannii. However, more studies should be conducted to confirm our observation.
Intracerebral opportunistic infections caused by immunosuppressants after orthotopic liver transplantation: Report of two cases and literature review
Authors: Yafei Guo, Zebin Zhu, Wei Cai, Shengwei Tao, Dalong Yin
Journal: Front Immunol (2022)
Keywords: hhv-6 encephalitis, immunosuppressant, intracranial infections, opportunistic infections, orthotopic liver transplantation
MeSH terms: Liver Transplantation / adverse effects, Opportunistic Infections / diagnosis, Opportunistic Infections / drug therapy, Opportunistic Infections / etiology, Roseolovirus Infections, Review, Case Reports, Adult, Humans, Immunosuppressive Agents / adverse effects, Transplantation, Homologous / adverse effects, Immunosuppressive Agents

Central nervous system (CNS) infections in adults are rare because of normal immunity and the existence of the blood brain barrier, which prevents the invasion of pathogenic microorganisms. Liver transplant recipients are at an increased risk of opportunistic infections (OI) due to immunosuppressive therapy compared to those with normal immunity. Early diagnosis and timely implementation of treatment are critical for the successful treatment of these infections. We present two cases of intracerebral OI after orthotopic liver transplantation (OLT), with different clinical presentations. Patient 1 presented with epileptic seizures, mainly manifested as unresponsiveness, unconsciousness, and coma complicated with involuntary limb twitching. Patient 2 presented with a consciousness disorder, mainly manifested as unclear consciousness content, poor orientation, calculation power, and logical ability. Next-generation sequencing (NGS) examination of the cerebrospinal fluid confirmed human herpesvirus 6 B (HHV-6B) infection in patient 1 and intracranial Aspergillus infection in patient 2. Intracranial OI has insidious onset and atypical clinical manifestations. NGS can allow for the proper diagnosis and monitoring of the effects of treatment.
A perfect storm: acute portal vein thrombosis in a patient with severe dengue and hemorrhagic manifestations-a case report
Authors: Carlos Eduardo Ruiz Gonzalez, Juan Daniel Criado Villamizar, Yuderleys Masías León, Diego Fernando García García, Katherine Tatiana Centeno Hurtado
Journal: Egypt Liver J (2022)
Keywords: dengue, portal vein thrombosis, thrombocytopenia
MeSH terms: Case Reports

Background:
Dengue constitutes a public health problem in endemic regions. The clinical course can range from asymptomatic to severe expressions. Hemorrhagic manifestations are the most frequently reported complications; on the contrary, thrombotic complications are unusual.
Clinical case:
We present the case of an adult patient who presented hemodynamic instability, severe thrombocytopenia, and positive serology for dengue, in whom acute portal vein thrombosis was documented. The possible pathophysiology of thrombocytopenia and thrombosis in dengue is discussed, as well as the dilemmas regarding the treatment of associated hemorrhagic and thrombotic manifestations.
Conclusions:
The present case brings up the importance of considering the possibility of thrombotic events in patients with severe dengue. A high degree of suspicion, close assessment of hemostatic function, and quality supportive care are essential to improve outcomes. To our knowledge, this is the first report of dengue-associated portal vein thrombosis.
Primary teratoma of the lesser sac: lesser sac teratoma
Authors: Brandon M Hardesty, Thomas M Ulbright, Christopher Touloukian, Lawrence H Einhorn
Journal: Case Rep Oncol Med (2012)
MeSH terms: Case Reports

Germ cell tumors predominantly involve the gonads but may rarely be found outside of the gonads, primarily in midline structures. We describe the case of a 27-year-old male with an asymptomatic 8 cm teratoma located within the lesser sac of his omentum. This is the fourth case of a teratoma located within the lesser sac of the omentum, which provides the opportunity to make some comparisons. Finally, we discuss some of the etiologic theories behind extragonadal germ cell tumors and how they relate to teratomas in the lesser sac.
Novel Eye Movement Disorders in Whipple's Disease-Staircase Horizontal Saccades, Gaze-Evoked Nystagmus, and Esotropia
Authors: Aasef G Shaikh, Fatema F Ghasia
Journal: Front Neurol (2017)
Keywords: neurodegeneration, parkinsonism, progressive supranuclear palsy, slow saccade, strabismus
MeSH terms: Case Reports

Whipple's disease, a rare systemic infectious disorder, is complicated by the involvement of the central nervous system in about 5% of cases. Oscillations of the eyes and the jaw, called oculo-masticatory myorhythmia, are pathognomonic of the central nervous system involvement but are often absent. Typical manifestations of the central nervous system Whipple's disease are cognitive impairment, parkinsonism mimicking progressive supranuclear palsy with vertical saccade slowing, and up-gaze range limitation. We describe a unique patient with the central nervous system Whipple's disease who had typical features, including parkinsonism, cognitive impairment, and up-gaze limitation; but also had diplopia, esotropia with mild horizontal (abduction more than adduction) limitation, and vertigo. The patient also had gaze-evoked nystagmus and staircase horizontal saccades. Latter were thought to be due to mal-programmed small saccades followed by a series of corrective saccades. The saccades were disconjugate due to the concurrent strabismus. Also, we noted disconjugacy in the slow phase of gaze-evoked nystagmus. The disconjugacy of the slow phase of gaze-evoked nystagmus was larger during monocular viewing condition. We propose that interaction of the strabismic drifts of the covered eyes and the nystagmus drift, putatively at the final common pathway might lead to such disconjugacy.
11p15.4 Microdeletion Associates with Hemihypertrophy
Authors: Surasak Puvabanditsin, Mehrin Sadiq, Marianne Jacob, Maaz Jalil, Kenya Cabrera, Omer Choudry, Rajeev Mehta
Journal: Case Rep Genet (2018)
MeSH terms: Case Reports

We report a preterm female infant with intrauterine growth retardation, dysmorphic facies, missing rib, small hands and feet, and hemihypertrophy. The results of whole genome SNP microarray analysis showed approximately 77 Kb interstitial deletion of the short arm of chromosome 11 (11p15.4). We report novel clinical findings of this rare genetic condition.