OpenMed/multicare-articles huggingface dataset:
The importance of prosthetic planning for implant-supported dentures in esthetic zones - A case report
Authors: Gustavo Vargas Da Silva Salomão, Fernando Toledo Santos, Sergio Allegrini Junior
Journal: Int J Surg Case Rep (2019)
Keywords: case report, cement-retained prosthesis, dental esthetics, dental implants, implant-supported denture

Introduction:
Implant-supported dentures in esthetic zones pose a great challenge to dental surgeons, since important factors are involved in treatment success, such as positioning of the implants, morphology of soft tissues, dental esthetics, and biomechanics of the prosthetic structure.
Presentation of case:
This clinical report describes the case of a patient previously subjected to dental surgery for implant placement on tooth #11 and subsequent prosthetic crown placement. The patient reported poor esthetics due to gingival retraction and changes on the surface of the ceramic material. After proper multidisciplinary planning, the prosthesis was remanufactured, with the selection of new components and periodontal surgery using a modified technique for the handling of soft tissues. After nine postoperative months, the patient had a better gingival alignment and reported esthetic and functional satisfaction.
Discussion:
After assessing the positioning of implants, it is important to select prosthetic components that are suitable to each clinical case, as they will guarantee clinical success for long time periods. In order to obtain a better gingival contour and avoid an extensive surgical procedure, two techniques were used: the pinhole surgical technique, in which the gingiva is repositioned without the use of grafts; and Tarnow's technique, in which a semilunar incision is made in soft tissues.
Conclusion:
The multidisciplinary approach, combining prosthetic and periodontal procedures, proved to be efficient, improving esthetic outcomes.
Aumolertinib Effectively Reduces Clinical Symptoms of an EGFR L858R-Mutant Non-Small Cell Lung Cancer Case Coupled With Osimertinib-Induced Cardiotoxicity: Case Report and Review
Authors: Qianqian Zhang, Haiyang Liu, Jia Yang
Journal: Front Endocrinol (Lausanne) (2022)
Keywords: l858r, nsclc, aumolertinib, cardiac failure, osimertinib
MeSH terms: Carcinoma, Non-Small-Cell Lung / drug therapy, Carcinoma, Non-Small-Cell Lung / genetics, Heart Failure, Lung Neoplasms / drug therapy, Lung Neoplasms / genetics, Lung Neoplasms / pathology, Case Reports, Review, Acrylamides, Aniline Compounds, ErbB Receptors / genetics, Female, Humans, Indoles, Middle Aged, Pyrimidines, Acrylamides, Aniline Compounds, Indoles, Pyrimidines, osimertinib, EGFR protein, human, ErbB Receptors, aumolertinib

Osimertinib, a third-generation epidermal growth factor receptor tyrosine kinase inhibitor (EGFR-TKI) first-line therapy, has shown good clinical outcomes in non-small cell lung cancer (NSCLC), but some serious adverse events such as cardiotoxicity have also been reported. Here, we present the first NSCLC case with osimertinib-induced cardiac failure. The case is successfully being treated by switching to another third-generation TKI, aumolertinib. A 62-year-old non-smoking woman was initially diagnosed with stage cT2aN2M1c IVB NSCLC with synchronous brain and bone metastasis in April 2020. Further genetic screening of the patient identified Leu858Arg (L858R) mutation in EGFR; thus, the patient was administered third-generation TKI osimertinib (80 mg/day) for 6 months. This treatment with osimertinib led to serious cardiac failure but no significant reduction in NSCLC tumor size. To cope with these conditions, another third-generation TKI, aumolertinib (110 mg/day), along with a supplement treatment plan was prescribed to the patient. Interestingly, this new treatment plan of aumolertinib significantly inhibited tumor growth in 8 months. Therefore, we conclude that the administration of second-line aumolertinib 110 mg/day has fewer adverse reactions and high efficacy against NSCLC as compared to osimertinib therapy.
Mixed Reality Technology in Total Knee Arthroplasty: An Updated Review With a Preliminary Case Report
Authors: Shilong Su, Pengfei Lei, Chenggong Wang, Fawei Gao, Da Zhong, Yihe Hu
Journal: Front Surg (2022)
Keywords: augmented reality, case report, mixed reality, navigation, total knee arthroplasty
MeSH terms: Case Reports

Background:
Augmented reality and mixed reality have been used to help surgeons perform complex surgeries. With the development of technology, mixed reality (MR) technology has been used to improve the success rate of complex hip arthroplasty due to its unique advantages. At present, there are few reports on the application of MR technology in total knee arthroplasty. We presented a case of total knee arthroplasty with the help of mixed reality technology.
Case presentation:
We presented a case of a 71-year-old woman who was diagnosed with bilateral knee osteoarthritis with varus deformity, especially on the right side. After admission, the right total knee arthroplasty was performed with the assistance of MR technology. Before the operation, the three-dimensional virtual model of the knee joint of the patient was reconstructed for condition analysis, operation plan formulation, and operation simulation. During the operation, the three-dimensional virtual images of the femur and tibia coincided with the real body of the patient, showing the osteotomy plane designed before the operation, which can accurately guide the completion of osteotomy and prosthesis implantation.
Conclusions:
As far as we know, this is the first report on total knee arthroplasty under the guidance of mixed reality technology.
Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome
Authors: Maria Clara Bonaglia, Sara Bertuzzo, Anna Maria Ciaschini, Giancarlo Discepoli, Lucia Castiglia, Romina Romaniello, Orsetta Zuffardi, Marco Fichera
Journal: Mol Cytogenet (2020)
Keywords: balanced rearrangements, cardiac disorder, chromosomal breakpoints, genotype-phenotype, haploinsufficiency, next-generation sequencing, phelan-mcdermid syndrome, ryr2, reciprocal translocation, shank3
MeSH terms: Case Reports

Background:
It has been known for more than 30 years that balanced translocations, especially if de novo, can associate with congenital malformations and / or neurodevelopmental disorders, following the disruption of a disease gene or its cis-regulatory elements at one or both breakpoints.
Case presentation:
We describe a 10-year-old girl with a non-specific neurodevelopmental disorder characterized by moderate intellectual disability (ID), gross motor clumsiness, social and communication deficits. She carries a de novo reciprocal translocation between chromosomes 1q43 and 22q13.3, the latter suggesting the involvement of SHANK3. Indeed, its haploinsufficiency associates with Phelan-McDermid Syndrome, whose main symptoms are characterized by global developmental delay and absent or severely delayed expressive speech. A deep molecular approach, including next-generation sequencing of SHANK3 locus, allowed demonstrating the breakage of RYR2 and SHANK3 on the derivative chromosomes 1 and 22 respectively, and the formation of two fusion genes SHANK3-RYR2 and RYR2-SHANK3 with concomitant cryptic deletion of 3.6 and 4.1 kilobases at translocation junction of both derivatives chromosomes 22 and 1, respectively.
Conclusions:
Although the interruption of SHANK3 accounts for the patient's psychomotor retardation and autism-like behavior, we do not exclude that the interruption of RYR2 may also have a role on her disorder, or result in further pathogenicity in the future. Indeed, RYR2 that has a well-established role in the etiology of two autosomal dominant adulthood cardiac disorders (#600996 and #604772) is also expressed in the brain (cerebellum, hippocampus, and cerebral cortex) and about half of RYR2 mutation carriers present late onset primary generalized epilepsy without cardiac arrhythmogenic disorders. Moreover, RYR2 variants have also been sporadically reported in individuals with early onset schizophrenia or ID, and its constraint values suggest intolerance to loss-of-function. This study not only confirms the usefulness of the molecular mapping of de novo balanced rearrangements in symptomatic individuals, but also underscores the need for long-term clinical evaluation of the patients, for better evaluating the pathogenicity of the chromosomal breakpoints.
Adrenal Oncocytic Neoplasm with Paradoxical Loss of Important Mitochondrial Steroidogenic Protein: The 18 kDA Translocator Protein
Authors: Roberto Ruiz-Cordero, Alia Gupta, Arumugam R Jayakumar, Gaetano Ciancio, Gunnlaugur Petur Nielsen, Merce Jorda
Journal: Case Rep Endocrinol (2017)
MeSH terms: Case Reports

The adrenal glands produce a variety of hormones that play a key role in the regulation of blood pressure, electrolyte homeostasis, metabolism, immune system suppression, and the body's physiologic response to stress. Adrenal neoplasms can be asymptomatic or can overproduce certain hormones that lead to different clinical manifestations. Oncocytic adrenal neoplasms are infrequent tumors that arise from cells in the adrenal cortex and display a characteristic increase in the number of cytoplasmic mitochondria. Since the rate-limiting step in steroidogenesis includes the transport of cholesterol across the mitochondrial membranes, in part carried out by the 18-kDa translocator protein (TSPO), we assessed the expression of TSPO in a case of adrenal oncocytic neoplasm using residual adrenal gland of the patient as internal control. We observed a significant loss of TSPO immunofluorescence expression in the adrenal oncocytic tumor cells when compared to adjacent normal adrenal tissue. We further confirmed this finding by employing Western blot analysis to semiquantify TSPO expression in tumor and normal adrenal cells. Our findings could suggest a potential role of TSPO in the tumorigenesis of this case of adrenocortical oncocytic neoplasm.
A Rare Case of Systemic AL Amyloidosis with Muscle Involvement: A Misleading Diagnosis
Authors: Fabrizio Accardi, Valentina Papa, Anna Rita Capozzi, Gian Luca Capello, Laura Verga, Cristina Mancini, Eugenia Martella, Roberta Costa, Laura Notarfranchi, Benedetta Dalla Palma, Franco Aversa, Vladimiro Pietrini, Giovanna Cenacchi, Nicola Giuliani
Journal: Case Rep Hematol (2018)
MeSH terms: Case Reports

Muscle involvement in AL amyloidosis is a rare condition, and the diagnosis of amyloid myopathy is often delayed and underdiagnosed. Amyloid myopathy may be the initial manifestation and may precede the diagnosis of systemic AL amyloidosis. Here, we report the case of a 73-year-old man who was referred to our center for a monoclonal gammopathy of undetermined significance (MGUS) diagnosed since 1999. He reported a progressive weakness of proximal muscles of the legs with onset six months previously. Muscle biopsy showed mild histopathology featuring alterations of nonspecific type with a mixed myopathic and neurogenic involvement, and the diagnostic turning point was the demonstration of characteristic green birefringence under cross-polarized light following Congo red staining of perimysial vessels. Transmission electron microscopy (TEM) confirmed amyloid fibrils around perimysial vessels associated with collagen fibrils. A stepwise approach to diagnosis and staging of this disorder is critical and involves confirmation of amyloid deposition, identification of the fibril type, assessment of underlying amyloidogenic disorder, and evaluation of the extent and severity of amyloidotic organ involvement.
Cryoglobulinemic Glomerulonephritis as a Presentation of Atypical Post-Infectious Glomerulonephritis
Authors: Christine Boumitri, Fady G Haddad, Chetana Rondla, Suzanne El-Sayegh, Elie El-Charabaty
Journal: J Clin Med Res (2016)
Keywords: acute kidney injury, cryoglobulinemia, post-infectious glomerulonephritis
MeSH terms: Case Reports

Post-infectious glomerulonephritis (PIGN) usually occurs within few days to weeks following an infection. Clinical presentation is variable, but in general, it is considered a benign entity with good prognosis. It rarely requires kidney biopsy to confirm the diagnosis. We present a case of a 55-year-old, previously healthy, male who presented for worsening shortness of breath, persistent cough, and right-sided pleuritic chest pain. Initial workup revealed a right exudative effusion with empyema. Hospital course was complicated by acute kidney injury requiring renal replacement therapy with a peak creatinine of 10.2 mg/dL from a baseline of 1.18 mg/dL. On kidney biopsy, findings were compatible with a diagnosis of cryoglobulinemic glomerulonephritis or an atypical form of PIGN. While a wide variety of histopathological findings on renal biopsies have been described to complement the usual diffuse proliferative glomerulonephritis pattern, cryoglobulinemic features with negative cryoglobulin have never been reported. Our case is unique not only by having an atypical histological presentation but also by meeting the criteria of atypical PIGN with persistent hypertension and microscopic hematuria.
Aneurysmectomy with partial nephrectomy on a living donor renal allograft: a case report
Authors: Siegfredo Paloyo, Junichiro Sageshima, Linda Chen, George W Burke 3rd, Gaetano Ciancio
Journal: Case Rep Transplant (2013)

Vascular anomalies among living kidney donors are seldom encountered and their presence offers a complex opportunity for every transplant surgeon. Furthermore, there has been an increasing trend with the use of marginal or kidneys with pathology to address the shortage of organs. We report a rare case of a kidney allograft with a saccular aneurysm and renal cortical cysts for which an excision with primary repair and partial nephrectomy were done, respectively. The recipient was a 45-year-old female with lupus nephritis and significant comorbidities who had excellent recovery and outcome. With good surgical techniques, these types of grafts continue to provide acceptable outcome but safety of the donor should be of utmost importance.
Extramammary Paget's Disease in the Genital Area of a Male: A Case Report and Review of the Literature
Authors: Dan Zhao, Bo-Ping Wen, Sen-Yin Xu
Journal: Front Oncol (2021)
Keywords: contrast-enhanced ultrasound (ceus), conventional ultrasonography (us), extramammary paget disease (empd), imaging findings, scrotum
MeSH terms: Case Reports

Extramammary Paget's disease (EMPD) is an uncommon intraepithelial malignancy that is rarely found in the male. Currently, there is very little knowledge pertaining to EMPD imaging, particularly in cases that involve the scrotum. Here, a 67-year-old man with lichenification on his left scrotum confirmed to be EMPD was reviewed. Bloodwork did not return a positive result, but syphilis-specific antibodies were found. Conventional high-frequency ultrasound (US) and contrast-enhanced ultrasound (CEUS) imaging were utilized to determine the lesion size and blood perfusion. In the present case, the lesion's size and involvement were vividly depicted by CEUS, while results obtained by conventional US were grossly underestimated. Consequently, multimodal imaging assessment is likely to provide more accurate diagnoses for uncommon diseases, such as EMPD, and to aid in clinical decision-making.
Lipedematous alopecia: clinical and histological analysis of the first male Chinese
Authors: Wei Wang, Guizhi Zhou, Yanfang Zhang, Changping Yu, Furen Zhang
Journal: Springerplus (2016)
Keywords: histological examination, lipedematous alopecia, male, skin biopsy

Background:
Lipedematous alopecia (LA) is a rare disorder clinically characterized by a thick boggy scalp and varying severity of hair loss, which primarily occurs in black female adults. In this study, we reported one male adult Chinese diagnosed with lipedematous alopecia for the first time.
Case presentation:
A Chinese male, aged 20 years old, admitted to Shandong Provincial Hospital for Skin Diseases was diagnosed with LA. Clinical, histological and imaging data were collected and analyzed. Literature review was performed.
Results:
Skin biopsy and pathological examination revealed the signs of increased subcutaneous adipose tissue, slight perivascular mononuclear infiltration into superficial dermis, adipocyte disruption and mucin deposition. CT scan demonstrated diffuse thickening of subcutaneous tissue in the occipital region. The symptoms were not significantly alleviated after 6-month combined therapy of prednisone and acupuncture.
Conclusions:
We reported one male Chinese of LA, who was the first case reported in China. Clinical and pathological findings of this case deepened the understanding of LA.
Simultaneous optic and vestibulocochlear syphilitic neuropathy in a patient with HIV infection
Authors: Ignacio Rodríguez-Uña, Mercedes Serrador-García, Enrique Santos-Bueso, David Díaz-Valle, Julián García-Feijóo
Journal: J Ophthalmic Inflamm Infect (2013)

Background:
The purpose of this report is to present a case of optic and vestibulocochlear neuropathy as a manifestation of concurrent HIV and syphilis coinfection. This is an interventional case report of a 37-year-old man who complained of blurry central vision in his left eye and hearing loss in his left ear over the past 2 weeks.
Findings:
Visual acuity was 20/20 in both eyes, and the anterior segment was normal in both eyes without relative afferent pupillary defect. Fundoscopy revealed swelling of the left optic disc. Optic coherence tomography and the Heidelberg retina tomograph confirmed and quantified the oedema of the left optic disc. An audiometry showed a left sensorineural deafness. Serological examinations disclosed confirmed HIV and syphilis infection. Magnetic resonance imaging of the brain showed no abnormalities. Properly treated with intravenous penicillin, the lesions resolved.
Conclusions:
Simultaneous optic and auditive involvement can be the first manifestation of syphilitic and HIV coinfection. To our knowledge, this report is the first to describe the rare occurrence of syphilitic optic neuritis and ipsilateral affectation of the vestibulocochlear nerve.
Case Report: Self-Resolved Macular Edema Secondary to Congenital Retinal Macrovessels
Authors: Fang Zheng, Kairan Lai, Houfa Yin, Jingliang He, Yufeng Xu, Panpan Ye
Journal: Front Med (Lausanne) (2022)
Keywords: ffa, oct, octa, congenital retinal macrovessels, macular edema
MeSH terms: Case Reports

Purpose:
To report a case of macular edema secondary to congenital retinal macrovessels (CRMs), which resolved spontaneously without any treatment.
Observations:
A 39-year-old female presented with blurry vision of the right eye for one day. Fundus examination revealed a branch of artery and vein of the inferior retinal arcade crossing the horizontal raphe. Optical coherence tomography (OCT) through the fovea showed cystoid macular edema in the outer plexiform layer. However, no leakage of the vessels was noticed by fundus fluorescein angiography (FFA). Observation was recommended with close follow-up. Two weeks later, the patient returned with good visual acuity, and the macular edema was resolved spontaneously.
Conclusions:
Macular edema is a possible complication of CRM by increasing retinal capillary hydrostatic pressure. Treatment is not necessary for this kind of macular edema if no leakage of the vessels is noticed on FFA.
Spatial heterogeneity and differential treatment response of acute myeloid leukemia and relapsed/refractory extramedullary disease after allogeneic hematopoietic cell transplantation
Authors: Desiree Kunadt, Sylvia Herold, David Poitz, Lisa Wagenführ, Theresa Kretschmann, Katja Sockel, Leo Ruhnke, Stefan Brückner, Ulrich Sommer, Frieder Meier, Christoph Röllig, Malte von Bonin, Christian Thiede, Johannes Schetelig, Martin Bornhäuser, Friedrich Stölzel
Journal: Ther Adv Hematol (2022)
Keywords: aml, allogeneic stem cell transplantation, clonal landscape, extramedullary
MeSH terms: Case Reports

Although extramedullary manifestations (EMs) are frequent in patients with acute myeloid leukemia (AML), they are often not detected during clinical workup and neither imaging- nor molecularly based diagnostic strategies are established to reveal their existence. Still, the detection of EM is essential for therapeutic decision-making, as EM present with aggressive and resistant disease and since mutational profiling might render patients within a different risk category, requiring personalized therapeutic strategies. Here, we report the case of an AML patient presenting with AML bone marrow (BM) infiltration and molecularly distinct EM at time of diagnosis followed by multiple EM relapses while undergoing several intensive chemotherapies including allogeneic hematopoietic cell transplantations (alloHCTs). 18Fluorodesoxy-glucose positron emission tomography (18FDG-PET)-imaging revealed EM sites in the mediastinum, duodenum, skin, and in retroperitoneal tissue, whereas recurrent BM biopsies showed continuous cytomorphologic and cytogenetic remission after alloHCT. To investigate the molecular background of the aggressive character of extramedullary disease and its differential treatment response, we performed amplicon-based next generation sequencing. An exon 4 (c.497_498insGA) frameshift RUNX1 mutation was exclusively found in all of the patient's EM sites, but not in the BM or in peripheral blood samples at time of EM reoccurrence. In addition, we detected an exon 13 (c.3306G>T) ASXL1 point mutation only in the retroperitoneal tumor tissue at the time of the fourth relapse. In contrast to the patient's intermediate-risk BM AML at diagnosis according to ELN2017, EM sites showed molecular adverse-risk features implicating intensified strategies like cellular therapies. Notably, disease relapse could only be detected by imaging throughout the course of disease. This case demonstrates both the necessity of continuous molecular profiling of EM to reveal differential molecular composition of EM and BM-derived AML, supposedly leading to divergent susceptibility to established therapies, as well as recurrent 18FDG-PET-imaging for detecting residual disease and assessment of treatment response in case of EM AML.
Case report: Otitis media with subsequent mastoiditis and cerebral herniation in a patient with Arnold chiari malformation
Authors: Oskar Feussner, Roland Haase, Jan Baier
Journal: Front Pediatr (2023)
Keywords: arnold-chiari-malformation, brain absces, mastoiditis, otitis media, sudden death
MeSH terms: Case Reports

We present the case of a 13-year-old boy who unexpectedly needed to be resuscitated at home after an assumed uncomplicated otitis media. Imaging at our clinic showed mastoiditis and a cystoid mass in the left cerebellopontine angle compressing the brainstem, as well as an Arnold-Chiari-Malformation. Both the laboratory examination of cerebrospinal fluid (CSF) and surgical biopsy with pathological evaluation of the mastoid supported the inflammatory etiology of the mass. Microbiologically, Streptococcus intermedius was detected in the blood culture and CSF. Due to brain death, which most likely already existed preclinically, the organs were released for donation during the course. Our case demonstrates a very rare lethal complication of acute otitis media on the basis of a cerebral malformation and emphasizes the need to stay alert when patients complain of symptoms after assumed resolution.