OpenMed/multicare-articles huggingface dataset:
Removal of Subinternal Limiting Membrane Hemorrhage Secondary to Valsalva Retinopathy Using a Fovea-Sparing Internal Limiting Membrane Fissure Creation Technique
Authors: Yasuyuki Sotani, Hisanori Imai, Maya Kishi, Hiroko Yamada, Wataru Matsumiya, Akiko Miki, Sentaro Kusuhara, Makoto Nakamura
Journal: Case Rep Ophthalmol Med (2024)
Keywords: valsalva retinopathy, internal limiting membrane peeling, macular hole, subinternal limiting membrane hemorrhage, vitrectomy
MeSH terms: Case Reports

Introduction: Valsalva retinopathy can cause submacular hemorrhage (SMH), which may lead to visual disturbances. SMH can extend into the subinternal limiting membrane (ILM) and vitreous spaces, sometimes occurring concomitantly with full-thickness macular holes (FTMHs). Herein, we describe a case in which sub-ILM hemorrhage was removed without peeling the ILM of the central fovea, thus preserving the foveal ILM. Case Presentation: A 48-year-old female patient developed rapid-onset bilateral visual impairment due to SMH secondary to Valsalva retinopathy. The SMH predominantly consisted of sub-ILM hemorrhage. However, detailed observation was challenging due to the dense sub-ILM hemorrhage in the left eye. Initial best-corrected visual acuity (BCVA) in the right and left eyes were 1.2 and 0.03, respectively. Intravitreal tissue plasminogen activator (tPA) and sulfur hexafluoride (SF6) gas injections were initially administered to displace the SMH in the left eye; however, the SMH could not be successfully displaced. A vitrectomy was then performed. Intraoperatively, an ILM fissure beyond the foveal region was created using ILM forceps. The balanced salt solution was sprayed onto the ILM, and the sub-ILM hemorrhage was drained into the vitreous cavity from the ILM fissure. The surgery successfully displaced the sub-ILM hemorrhage while preserving the foveal ILM. No postoperative complications were observed. Visual acuity remained at 1.2 in the right eye and improved to 1.2 in the left eye 6 months postoperatively. Conclusion: Removing foveal sub-ILM hemorrhage without peeling the foveal ILM can be a viable treatment option to preserve the foveal ILM.
Splenogonadal fusion: a case report of three cases and a literature review
Authors: Na Luo, Qitao Xu, Hao Wang, Jiahong Su, Shoulin Li
Journal: Front Pediatr (2024)
Keywords: intra-abdominal cryptorchidism, orchiectomy, scrotal swelling, splenogonadal fusion, testicular tumor
MeSH terms: Case Reports

Purpose:
This case report aims to enhance the understanding of clinical physicians regarding splenogonadal fusion (SGF) and to help them consider SGF as a differential diagnosis when testicular tumors are suspected, thus avoiding unnecessary orchiectomies.
Methods:
We report three cases of SGF admitted to our hospital, one of which presented as a suspected testicular tumor. We also searched the literature on scrotal masses from the last 25 years and summarize the characteristics of cases of SGF manifesting as scrotal swelling combined with our cases.
Results:
After conducting a thorough search, we found a total of 24 publications relevant to this case study, which included 25 testes. All lesions were located on the left side, and the average age of those affected was 20.22 years. Seven cases were of the continuous type. Three cases presented with pain, all of which were intratesticular masses. Thirty cases had a definite onset duration, ranging from 3 weeks to 10 years. Nine patients (36%) underwent orchiectomy, and one underwent partial orchiectomy.
Conclusion:
It is crucial to identify SGF in the clinic. When a patient presents with scrotal swelling, diagnosing SGF preoperatively is challenging, and it should be considered when there is a long history of a stable testicular mass. An intraoperative frozen section should be performed if a testicular tumor is suspected to avoid unnecessary orchiectomy.
Osteosynthesis with Arthroscopy of a Nonunited Tibial Anterior Cruciate Ligament Avulsion Fracture 30 Years after Injury
Authors: Jun Tanaka, Takuya Ohno, Hiroki Ishikawa, Shogo Fujita, Hiroki Okamura, Shigeo Yamakami, Yoshifumi Kudo
Journal: Case Rep Orthop (2023)
MeSH terms: Case Reports

There are a few reports on the treatment of nonunited tibial anterior cruciate ligament (ACL) avulsion fractures. To our knowledge, this is the first report of a case of nonunited tibial ACL avulsion fracture 30 years after injury. A 36-year-old woman injured her knee during a road traffic accident 30 years ago. Since then, she had persistent knee instability that was left untreated. She presented to our clinic because of knee pain she had been experiencing for a week. Radiography and computed tomography revealed tibial ACL avulsion fracture nonunions. Screw fixation with arthroscopy was performed, and bone fusion was obtained. The knee injury and osteoarthritis outcome score improved from 24 points preoperatively to 83 points postoperatively. The nonunion of intercondylar eminence fractures of the tibia, even up to 30 years after the initial injury, can be treated by osteosynthesis with arthroscopy.
Schizodontic Molarization of Mandibular Premolars: A Case Report of Gemination
Authors: Harshata Tirtalli Sathish, Sharad Kamat, Mamata Kamat, Rudrayya S Puranik
Journal: Ethiop J Health Sci (2024)
Keywords: bicuspid, case report, dental restoration, gemination, orthopantomography
MeSH terms: Bicuspid / abnormalities, Mandible / abnormalities, Case Reports, Female, Humans, Male, Tooth Abnormalities / etiology

Background:
Tooth gemination is a single enlarged or joined tooth with a normal tooth count when the anomalous tooth is counted as one. Mandibular second premolars show an elevated variability of crown morphology. Only nine cases of isolated second premolar macrodontia have been reported in the literature.
Case description:
This case report presents the clinical and radiographic findings and conservative treatment of an atypical and rare case of localized bilateral molarization of mandibular second premolars.
Conclusion:
Dental professionals should acquire deeper knowledge about anomalies and plan treatment carefully to avoid unexpected complications during dental procedures caused by morphological ignorance.
Ten-year anemia as initial manifestation of Castleman disease in the abdominal cavity: A case report
Authors: Pingping Xiao, Qingqing Wang, Zhigao Dong, Junnan Su, Yongquan Chen, Wei Fan
Journal: Open Life Sci (2024)
Keywords: castleman disease, anemia, case report
MeSH terms: Case Reports

Castleman disease (CD) is a relatively rare lymphoproliferative disorder. Lesions predominantly originate on the chest and neck and rarely occur on the abdomen. A 34-year-old female presented to our hospital with an unexplained 10-year history of anemia. A pathological diagnosis of plasma cell-type CD was established. One cycle of chemotherapy (thalidomide, cyclophosphamide, and prednisolone) improved her anemia significantly. Prompt etiological diagnosis and early intervention are essential to address systemic manifestations in patients with CD, and it is crucial to consider CD as a differential diagnosis when intra-abdominal masses are detected.
Repeated AAV9 Titer Determination in a Presymptomatic SMA Patient with Three SMN2 Gene Copies - A Case Report
Authors: Astrid Eisenkölbl, Manuel Pühringer
Journal: J Neuromuscul Dis (2024)
Keywords: aav9 antibody titer, spinal muscular atrophy, floppy infant, gene transfer therapy, onasemnogene abeparvovec
MeSH terms: Muscular Atrophy, Spinal / genetics, Muscular Atrophy, Spinal / therapy, Placenta, Case Reports, Dependovirus / genetics, Female, Genetic Therapy, Genetic Vectors, Humans, Infant, Motor Neurons, Pregnancy, Survival of Motor Neuron 2 Protein / genetics, SMN2 protein, human, Survival of Motor Neuron 2 Protein

Adeno-associated viruses (AAV) are well-suited to serve as gene transfer vectors. Onasemnogene abeparvovec uses AAV9 as virus vector. Previous exposure to wild-type AAVs or placental transfer of maternal AAV antibodies, however, can trigger an immune response to the vector virus which may limit the therapeutic effectiveness of gene transfer and impact safety. We present the case of a female patient with spinal muscular atrophy (SMA) and three survival motor neuron 2 (SMN2) gene copies. The infant had elevated titers of AAV9 antibodies at diagnosis at 9 days of age. Being presymptomatic at diagnosis, it was decided to retest the patient's AAV9 antibody titer at two-weekly intervals. Six weeks after initial diagnosis, a titer of 1:12.5 allowed treatment with onasemnogene abeparvovec. The presented case demonstrates that, provided the number of SMN2 gene copies and the absence of symptoms allow, onasemnogene abeparvovec therapy is feasible in patients with initially exclusionary AAV9 antibody titers of >1:50.
Effectiveness of direct needle puncture for complete hepaticojejunostomy anastomotic stricture after pancreaticoduodenectomy (with video)
Authors: Koichi Soga, Fuki Hayakawa, Takeshi Fujiwara, Yoshinori Gyotoku, Yumi Kusano, Ikuhiro Kobori, Masaya Tamano
Journal: DEN Open (2024)
Keywords: anastomotic stricture, biliary drainage, hepaticojejunostomy, injection needle, pancreaticoduodenectomy
MeSH terms: Case Reports

A 79-year-old Japanese woman, who had undergone pancreaticoduodenectomy 6 months prior to presentation owing to pancreatic cancer, complained of jaundice with high fever. Computed tomography revealed proximal bile duct dilatation with complete hepaticojejunostomy anastomotic stricture (HJAS). We performed a single-balloon endoscopy for biliary drainage. The presence of a scar-like feature surrounding the anastomosis was identified as the HJAS. White-light imaging during single-balloon endoscopy revealed that the HJAS contained a milky whitish area (MWA), suggesting that a membranous and fibrosis layer affected continuous inflammation around the center of the anastomosis (within a scar-like feature). Endoscopic dilatation was performed using an endoscopic injection needle, with the MWA used as an indicator. A 23-gauge endoscopic injection needle was used to penetrate the center of the blind lumen within the MWA, and a pinhole was created in the stricture. After confirming the position of the proximal bile duct using a contrast medium with the needle, an endoscopic guidewire with a cannula was inserted into the pinhole. A through-the-scope sequential balloon dilator was used to dilate the stricture, and a plastic stent was inserted into the proximal bile duct. This endoscopic intervention led to positive outcomes. In cases of complete HJAS occlusion, an endoscopic approach to the bile duct is difficult because the anastomotic opening of the HJAS is not visible. Thus, puncturing within the MWA, which can be used as a scar-like landmark within a complete membranous HJAS, is considered a useful endoscopic strategy.
Retrosternal hematoma causing torsade de pointes after coronary artery bypass graft surgery; a case report
Authors: Mohammadbagher Sharifkazemi, Mohammad Ghazinour, Mehrzad Lotfi, Soorena Khorshidi, Tahereh Davarpasand
Journal: Front Cardiovasc Med (2024)
Keywords: cardiac tamponade, case report, coronary artery bypass, myocardial infarction, torsades de pointes
MeSH terms: Case Reports

Myocardial infarction is among the top causes of mortality worldwide. Survivors may also experience several complications. Infarct-related torsade de pointes (TdP) is an uncommon complication. In the context of myocardial infarction, coronary artery bypass graft (CABG) surgery is the prevalent therapeutic modality associated with several early and late complications. Ventricular tachyarrhythmias, including TdP, because of electrical inhomogeneity, would potentially be a lethal complication of CABG. Here, we report the occurrence of medically intractable TdP in the presence of an uncommon case of a post-CABG retrosternal hematoma. Arrhythmia was properly resolved after hematoma removal surgically. It showed the possibility of a "cause and effect" relationship between these two complications. This unique case emphasizes the post-CABG medically-resistant TdP, considering the mechanical pressure effect of retrosternal hematoma that stimulates this potentially malignant arrhythmia, especially in the absence of electrolyte disturbances and evident symptoms of ongoing ischemia.
Case report: Distinctive cardiac features and phenotypic characteristics of Noonan syndrome with multiple lentigines among three generations in one family
Authors: Chon-Hou Chan, Man-Fong Chu, U-Po Lam, Toi-Meng Mok, Weng-Chio Tam, Brian Tomlinson, Ricardo Coelho, Màrio Évora
Journal: Front Cardiovasc Med (2023)
Keywords: noonan syndrome with multiple lentigines, echocardiography, hypertrophic cardiomyopathy, inherited disorder, sudden cardiac death
MeSH terms: Case Reports

Noonan syndrome with multiple lentigines (NSML, formerly known as LEOPARD syndrome) is a variant of Noonan syndrome which is an autosomal dominant disorder. Most cases of NSML are secondary to mutations of the protein-tyrosine phosphatase nonreceptor type 11 (PTPN11). Hypertrophic cardiomyopathy (HCM) remains the most frequent and serious cardiac abnormality in this inherited syndrome, and it may lead to sudden cardiac death related to HCM-associated outflow obstruction and fatal arrhythmia. Beyond cardiac involvement, NSML may present with multiple lentigines, ocular hypertelorism, genital anomalies, short stature and deafness. Herein, we report three patients with NSML among three generations in one family, all presenting with multiple lentigines, HCM and other distinctive clinical and molecular features, including facial dysmorphism, deafness, family history of sudden death and PTPN11 mutations. This case series highlights the importance of early echocardiography examinations for patients with NSML. Careful family screening and genetic counselling are also necessary, especially in patients with diffuse lentigines or a history of sudden death among family members. We also discuss the distinctive cardiac features and phenotypic characteristics at different stages of NSML, including childhood, adulthood and elderhood.
Bulbar Onset Amyotrophic Lateral Sclerosis in an African American Older Adult
Authors: Arielle Kasindi, Kathy Jo Carstarphen
Journal: Ochsner J (2023)
Keywords: amyotrophic lateral sclerosis, delayed diagnosis, dysarthria, lower urinary tract symptoms, motor neuron disease, religion
MeSH terms: Case Reports

Background: Amyotrophic lateral sclerosis (ALS), a fatal neuromuscular disease, affects the motor tracts and anterior horn cells of the spinal cord, causing both upper and lower motor neuron dysfunction. ALS typically involves progressive peripheral weakness and mobility issues. Case Report: An African American male in his early 70s presented to his primary care provider (PCP) with bulbar weakness and urinary tract symptoms. At presentation, and even later in the disease course, he ambulated well and did not report any limb issues. After some months of worsening symptoms of dyspnea, dysarthria, dysphagia, and urinary incontinence, a diagnosis of ALS was made via collaborative work between the PCP, a medical student, and various medical specialists including a neurosurgeon and neurologist. Because of the absence of limb abnormalities, the patient had difficulty accepting a diagnosis of ALS, thus delaying treatment onset. Conclusion: Clinicians must consider the patient's presentation holistically so that they do not miss insidious, complex, or unique presentations. ALS can present with bulbar symptoms early in the disease course with no upper motor neuron/lower motor neuron involvement. Older adult African American males can present with ALS. Mistrust of health care systems and resistance to science based on religious beliefs can impact patient acceptance of diagnoses and engagement in treatments. Having a long-term relationship with a PCP who also represents the patient's community can influence patient willingness to accept diagnoses, especially those that are life-limiting.
Lobomycosis in a Post-Covid 19 Patient: A Case Report and Review of Literature
Authors: Sateesh S Chavan, Thotadamane Nagaraja Chandrashekhar
Journal: Turk Patoloji Derg (2023)
MeSH terms: COVID-19 / complications, Lobomycosis / diagnosis, Lobomycosis / pathology, Review, Case Reports, Biopsy, Humans, Male, Middle Aged, Skin / pathology

Aim:
To document a case of lobomycosis and to discuss its epidemiology & diagnosis.
Case report:
A 53-year-old male presented with a history of nasal congestion, nasal discharge, and epistaxis following Covid 19 infection. On physical examination, there was necrotic slough in the nasal vestibule near the inferior turbinate. Scrapings and punch biopsy were taken from the lesion. Hematoxylin-eosin-stained sections showed necrotic and mucoid areas with mixed inflammatory cell infiltration and numerous budding yeasts 3- 7μm diameter in singles, and small clusters with single narrow based budding as well as multiple budding including sequential budding forming "chains of yeasts". A diagnosis of Lobomycosis was made. Yeasts of lobomycosis are often confused with other yeasts such as P. brasiliensis, Candida spp., B. dermatitidis, and Cryptococci, but characteristic 'sequential budding' with a 'chain of yeasts" aid in the final diagnosis. Demonstration of yeasts with characteristic chains either in tissue sections or in potassium hydroxide (KOH) preparation of scraped material, exudate, or exfoliative cytology is the mainstay in the diagnosis as the organisms are uncultivable in vitro in culture medium.
Case Series: ATRX Variants in Four Patients with Metastatic Pheochromocytoma
Authors: Briana N Cortez, Mickey J M Kuo, Abhishek Jha, Mayank Patel, Jorge A Carrasquillo, Tamara Prodanov, Kailah M Charles, Sara Talvacchio, Alberta Derkyi, Frank I Lin, David Taïeb, Jaydira Del Rivero, Karel Pacak
Journal: Front Endocrinol (Lausanne) (2024)
Keywords: atrx, case report, imaging, pheochromocytoma, prognosis
MeSH terms: Adrenal Gland Neoplasms / diagnostic imaging, Adrenal Gland Neoplasms / genetics, Adrenal Gland Neoplasms / pathology, Adrenal Gland Neoplasms / secondary, Adrenal Gland Neoplasms / therapy, Pheochromocytoma / diagnostic imaging, Pheochromocytoma / genetics, Pheochromocytoma / pathology, X-linked Nuclear Protein / genetics, Case Reports, Adult, Female, Humans, Male, Middle Aged, Mutation, Paraganglioma / diagnostic imaging, Paraganglioma / genetics, Paraganglioma / pathology, Positron Emission Tomography Computed Tomography, X-linked Nuclear Protein, ATRX protein, human

Few reports have highlighted the rare presence of somatic ATRX variants in clinically aggressive, metastatic pheochromocytoma/paraganglioma (PCC/PGL); however, none have addressed detailed clinical presentation (including biochemistry and imaging) and management of these patients. Here, we address these clinical features and management based on four PCC patients with somatic ATRX variants from our National Institutes of Health PCC/PGL cohort. A total of 192 patients underwent exome sequencing (germline, somatic, or both), and four males were found to have somatic ATRX variants (with additional somatic VHL and FH oncogenic variants in patients 2 and 4, respectively). Per-lesion and per-patient comparisons were performed among functional imaging scans performed at the NIH. Biochemical phenotype and response to systemic treatment were evaluated. This mini-series supports prior studies showing aggressive/metastatic PCC in patients with somatic ATRX variants, as all developed widespread metastatic disease. All four PCC patients presented with noradrenergic biochemical phenotype, and some with significant elevation in 3-methoxytyramine. 18F-FDOPA PET/CT was found to be the superior functional imaging modality, with 100% lesion detection rate when compared to that of 68Ga-DOTATATE, 18F-FDG, 18F-FDA, and 123I-MIBG scans. While patients did not respond to chemotherapy or tyrosine kinase inhibitors, they responded to targeted radiotherapy using high-specific-activity 131I-MIBG (Azedra®) or 177Lu-DOTATATE (Lutathera®).
Paroxysmal Sympathetic Hyperactivity Syndrome in the Setting of Fat Emboli Syndrome Secondary to Polytrauma
Authors: Lauren Gould, Michael Taylor, Matthew Forestiere
Journal: Case Rep Crit Care (2024)
MeSH terms: Case Reports

Paroxysmal sympathetic hyperactivity (PSH) syndrome is a potentially life-threatening complication after traumatic brain injuries that results from a massive release of catecholamines in the brain. Fat embolism syndrome (FES) is a complication of long bone fractures that results in cerebral or pulmonary fat emboli. We describe PSH in the setting of cerebral FES in an adolescent female following polytrauma secondary to a motor vehicle collision to highlight the importance of rapid diagnosis and treatment of this rare complication.
Subcutaneous Angiofibroma of the Ankle: A Rare, Undescribed Clinical Entity
Authors: Sanjay V Deshpande, Vivek H Jadawala, Salahuddin Ahmed, Sachin Goel
Journal: Cureus (2024)
Keywords: benign tumor, fibrovascular tumor, liposarcoma, soft tissue angiofibroma, spindle cells
MeSH terms: Case Reports

Soft tissue angiofibroma is a pathology consisting of a benign fibrous vascularized tumor that mimics low-grade sarcoma. Such tumors frequently arise in the extremities, more commonly in the lower extremities, presenting as a slow-growing, painless swelling. Females are more commonly affected than males. We present the case of a 42-year-old male with a slow-growing, painless mass on the extensor aspect of his left foot. Differential diagnoses considered were soft tissue fibrosarcoma, liposarcoma, and sebaceous cysts. Surgical excision of the tumor was done, and upon histopathology, there were multiple lobules with well-circumscribed, alternating areas of collagenous and myxoid tissues. There was a prominent small vascular network with uniformly arranged spindle cells consisting of pale eosinophil-rich cytoplasm and small ovoid nuclei, fine chromatin, and an indistinct nucleolus. There are not many reported cases of this clinical entity, and every new case reported brings light to the pathology and progression of this tumor. Understanding this pathology is necessary since it mimics many other skin and soft tissue tumors.
Bleeding hepatocellular adenoma: historical series and outcomes
Authors: Felipe Antônio Cacciatori, Pablo Duarte Rodrigues, Paulo Roberto Ott Fontes
Journal: Rev Col Bras Cir (2023)
MeSH terms: Adenoma, Liver Cell / complications, Adenoma, Liver Cell / pathology, Adenoma, Liver Cell / surgery, Carcinoma, Hepatocellular / pathology, Liver Neoplasms / pathology, Liver Neoplasms / surgery, Adult, Female, Hemoperitoneum / complications, Humans, Male, Retrospective Studies

Introduction:
hepatocellular adenoma - AHC - is a rare benign neoplasm of the liver more prevalent in women at reproductive age and its main complication is hemorrhage. In the literature, case series addressing this complication are limited.
Methods:
between 2010 and 2022, 12 cases of bleeding AHC were attended in a high-complexity university hospital in southern Brazil, whose medical records were retrospectively evaluated.
Results:
all patients were female, with a mean age of 32 years and a BMI of 33kg/m2. The use of oral contraceptives was identified in half of the sample and also half of the patients had a single lesion. The mean diameter of the largest lesion was 9.60cm and the largest lesion was responsible for bleeding in all cases. The presence of hemoperitoneum was documented in 33% of the patients and their age was significantly higher than the patients who did not have hemoperitoneum - 38 vs 30 years, respectively. Surgical resection of the bleeding lesion was performed in 50% of the patients and the median number of days between bleeding and resection was 27 days. In only one case, embolization was used. The relation between ingrowth of the lesions and the time, in months, was not obtained in this study.
Conclusion:
it is concluded that the bleeding AHC of the present series shows epidemiological agreement with the literature and may suggest that older patients trend to have hemoperitoneum more frequently, a fact that should be investigated in further studies.