OpenMed/multicare-articles huggingface dataset:
Case Report: Two cases of recurrences at the suprasternal space and lymph nodes between the sternocleidomastoid and sternohyoid muscles in papillary thyroid carcinoma
Authors: Hae Won Choi, Chang Myeon Song, Yong Bae Ji, Kyung Tae
Journal: Front Surg (2024)
Keywords: central neck dissection, lymph node metastasis, papillary thyroid carcinoma, recurrence, suprasternal space, thyroid cancer
MeSH terms: Case Reports

Recently, lymph node metastasis to the suprasternal space (SSLN) and lymph nodes between the sternocleidomastoid and sternohyoid muscles (LNSS) have received attention. This article reports two cases of SSLN and LNSS recurrence and emphasizes the need for a thorough evaluation and consideration of the possibility of recurrence in this region. The clinical significance of the prophylactic dissection of SSLN and LNSS remains unclear, and further studies are required to determine its value. Regular follow-up checks of suspicious lymph nodes at SSLN and LNSS, as well as the central and lateral compartments, are recommended after thyroidectomy to detect recurrences and ensure appropriate management.
Rhino-orbital cerebral mycosis: a case series of non-mucorales in COVID patients
Authors: Rajashri Patil, Jyoti Ajagunde, Sameena Khan, Sriram Kannuri, Nageswari Gandham, Sahjid Mukhida
Journal: Access Microbiol (2023)
Keywords: cladosporium, fusarium, neurospora, mycosis, post-covid
MeSH terms: Case Reports

Introduction:
Rhino-Orbito-cerebral mycoses are not only caused by Aspergillus spp. and Zygomycetes spp. but also can be associated with other rare species such as Neurospora spp., Cladosporium spp. and Fusarium spp. Mucormycosis is associated causatively with immunocompromised states, for example patients with comorbidities such as diabetes mellitus. Clinical symptoms of coronavirus disease (COVID) and mucormycosis in tandem are critical and relentless, frequently with no life-saving treatment.
Case series:
We report three patients with COVID-19 infection, who during the course of treatment developed rhino-orbital-cerebral mycosis including oral cavity involvement. Rhinocerebral mycosis along with oral cavity involvement was diagnosed by radiological investigations and preliminary screening for fungal infection (KOH mount) in all three cases. Empirical treatment was started but patients did not respond to treatment. All patients died even after debridement and maxillectomy. On culture, rare species of fungi were isolated in all three cases which, with the help of a reference laboratory, were identified as Neurospora, Cladosporium and Fusarium. Neurospora is considered nonpathogenic to humans. Cladosporium is a dematiaceous fungus found in soil in all climates, associated with disseminated or cerebral infections; and Fusarium, though considered a saprophytic colonizer of skin and respiratory mucosa along with other bacteria, is a common cause of mycotic keratitis worldwide.
Conclusion:
Immune system modifications due to COVID-19 with/without other risk factors can result in fungal co-infections that prove to be fatal for the patients. It is vital to be aware that COVID-19 patients, particularly those who are critically ill, may acquire secondary fungal infections and early detection is critical.
Case report: Rare floating gallbladder torsion in a child
Authors: Haiyang Ren, Hao Liu, Xiurui Liu, Hua Wei, Ping Tian
Journal: Front Med (Lausanne) (2024)
Keywords: acute abdomen, child, floating gallbladder, gallbladder torsion, laparoscopic cholecystectomy
MeSH terms: Case Reports

Gallbladder Torsion (GT) refers to serious biliary emergencies caused by the torsion of the gallbladder on its mesentery along the axis of the cystic duct and cystic artery. It is very rare, especially in children. The clinical data of a child with floating gallbladder torsion who was treated in our hospital on March 14, 2024, were analyzed. A 6-year-old girl presented with abdominal pain and vomiting. Physical examination showed a mass in the right middle abdomen. Laboratory tests showed normal liver biochemical function and white blood cells. The benign lesion was considered by color Doppler ultrasound and CT, and the floating torsion of the gallbladder was diagnosed by MRCP and laparoscopic exploration. The child was treated with laparoscopic cholecystectomy (LC) and recovered well after the operation.
A diminutive perivascular epithelioid cell tumor in the colon
Authors: Naoki Sugimura, Daizen Hirata, Mineo Iwatate, Santa Hattori, Mikio Fujita, Wataru Sano, Takahiro Fujimori, Yasushi Sano
Journal: DEN Open (2024)
Keywords: pecoma, angiomyolipoma, colon, diminutive, mesenchymal tumor
MeSH terms: Case Reports

Perivascular epithelioid cell tumor (PEComa) is a rare mesenchymal tumor. Some papers have reported that colonoscopy could be used to treat PEComa with a predominantly pedunculated polyp, whereas surgical intervention is often required for cases with submucosal-type tumors. These findings suggest that the morphology of PEComa changes dramatically with disease progression. Because of the rapid progression of PEComa, endoscopic treatment remains challenging, and early-stage PEComa morphology is not well understood. A 64-year-old man presented to our hospital for a follow-up colonoscopy after undergoing multiple polypectomies. He had a medical history of colorectal adenoma and prostate cancer. A 4-mm pale blue elevated but not pedunculated lesion was observed in the transverse colon, an area where he had not had polyps previously. Since no epithelial change was observed, the presence of a submucosal tumor, such as a gastrointestinal stromal tumor, was suspected. Cold snare polypectomy was performed, and the lesion was completely resected. Histological evaluation using hematoxylin and eosin staining identified that the submucosal tumor included thickened vascular walls and adipose tissue. Although fragmented due to significant degeneration, spindle-shaped cells staining positive for smooth muscle actin were observed within and surrounding the unstructured hyalinized tissue with calcifications. Based on these findings, the lesion was diagnosed as angiomyolipoma, a subtype of PEComa. Complete resection was confirmed by histopathology. To our knowledge, this PEComa is the smallest of any PEComa reported in the literature. Our finding provides valuable insights into the very early stage of colorectal PEComas.
Non-syndromic Parachute Mitral Valve "When the Valve Dives in": Case Report and Review of the Literature
Authors: Ahmad Damlakhy, Angelo A Messina Alvarez, Robert H Martin, Arif H Hakim, Ramegowda Rajagopal
Journal: Cureus (2024)
Keywords: adult congenital heart disease, mitral regurgitation, mitral valve anomaly, mitral valve stenosis, parachute mitral valve, shone complex
MeSH terms: Case Reports

A parachute mitral valve (PMV) is a congenital mitral valve anomaly diagnosed in infancy, and it can also be discovered in adults during echocardiography. Surgical management is common in infants to prevent complications from left-heart obstructions. In adults, PMV may be found independently or with other cardiac defects. Prophylactic antibiotics are recommended for certain congenital heart anomalies before dental procedures. A study suggests reconsidering guidelines to include anomalies like bicuspid aortic valve and MVP for antibiotic prophylaxis. PMV, with transvalvular blood flow turbulence, may increase the risk of infective endocarditis, as seen in a reported case with a parachute-like mitral valve. Here, we present the case of a 62-year-old female incidentally found to have a PMV during an echocardiogram.
Case report: Molecular profiling facilitates the diagnosis of a challenging case of lung cancer with choriocarcinoma features
Authors: Hui Li, Xin Hu, Matthew S Ning, Gregory N Fuller, John M Stewart, Jared C Gilliam, Jia Wu, Xiuning Le, Ara A Vaporciyan, J Jack Lee, Don L Gibbons, John V Heymach, Andrew Futreal, Jianjun Zhang
Journal: Front Oncol (2024)
Keywords: immune checkpoint inhibitors, ipilimumab, lung cancer with choriocarcinoma features, nivolumab, whole exome sequencing, whole transcriptome sequencing
MeSH terms: Case Reports

Accurate diagnoses are crucial in determining the most effective treatment across different cancers. In challenging cases, morphology-based traditional pathology methods have important limitations, while molecular profiling can provide valuable information to guide clinical decisions. We present a 35-year female with lung cancer with choriocarcinoma features. Her disease involved the right lower lung, brain, and thoracic lymph nodes. The pathology from brain metastasis was reported as "metastatic choriocarcinoma" (a germ cell tumor) by local pathologists. She initiated carboplatin and etoposide, a regimen for choriocarcinoma. Subsequently, her case was assessed by pathologists from an academic cancer center, who gave the diagnosis of "adenocarcinoma with aberrant expression of β-hCG" and finally pathologists at our hospital, who gave the diagnosis of "poorly differentiated carcinoma with choriocarcinoma features". Genomic profiling detected a KRAS G13R mutation and transcriptomics profiling was suggestive of lung origin. The patient was treated with carboplatin/paclitaxel/ipilimumab/nivolumab followed by consolidation radiation therapy. She had no evidence of progression to date, 16 months after the initial presentation. The molecular profiling could facilitate diagnosing of challenging cancer cases. In addition, chemoimmunotherapy and local consolidation radiation therapy may provide promising therapeutic options for patients with lung cancer exhibiting choriocarcinoma features.
Case Report: Integrative naturopathic approach for the management of sequestered lumbar disc herniation with neurological impairments: a case series with two year follow up
Authors: Sunil Paudel, Chethana A M Paudel, Karishma Silwal
Journal: Front Pain Res (Lausanne) (2024)
Keywords: case series, conservative treatments, disc sequestration, lumbar disc herniation, naturopathy
MeSH terms: Case Reports

Lumbar Disc Herniation (LDH) is a common condition, and contemporary pain research emphasizes the importance of adopting a comprehensive biopsychosocial perspective in pain treatment for positive clinical outcomes. Integrated Naturopathy and Yoga (INY) is a non-invasive medical system that takes a holistic and patient-centric approach to healing diseases. However, there is limited evidence on the effectiveness of INY, particularly in managing Sequestered LDH. We present two cases of patients experiencing radicular low back pain, lower limb weakness, and neuro-claudication who opted for conservative naturopathic management with INY. Following the INY treatments, both patients reported gradual relief from lower back pain, radicular pain, and neurological deficits. These findings are significant and contribute valuable evidence, suggesting that INY could be a viable therapeutic approach for managing sequestered LDH. This represents the first report on a non-invasive method for resolving sequestered LDH by utilizing INY.
Cervical Facial Actinomycosis Complicated by Bacteremia After 30 Years of Dental Neglect: Successful Treatment With Ceftriaxone and Metronidazole
Authors: Paul Wasuwanich, Dominique Szymkiewicz, Jaya Kumari, Diego Vanegas Acosta
Journal: Cureus (2024)
Keywords: actinomyces, bacteremia, dental neglect, mandibular abscess, mandibular actinomycosis
MeSH terms: Case Reports

Actinomycosis is an uncommon bacterial infection, caused by the Actinomyces species, and it most commonly presents as cervicofacial actinomycosis. The most common risk factors for actinomycosis are poor dental hygiene, oral surgery, maxillofacial trauma, local tissue inflammation, and diabetes. We discuss a case of a male patient in his 50s with 30 years of poor dental hygiene, complicated by tobacco use, who presented with septic shock and was found to have cervicofacial actinomycosis and bacteremia. The treatment of severe actinomycosis often involves prolonged penicillin-based antibiotic therapy. This is the first case in the literature to describe the successful treatment of cervicofacial actinomycosis and bacteremia with intravenous cefepime (later narrowed to ceftriaxone) and oral metronidazole.
Pregnancy-Related Eccrine Angiomatous Hamartoma: Case Report
Authors: Jonathan David Serrano Arias, Juan Jacobo Del Valle Saavedra, Luz Ellis Arrieta Blanquicet, Ana C Ruiz Suarez
Journal: Cureus (2024)
Keywords: benign vascular tumors, clinico-pathological, eccrine sweat glands, skin diseases, sweat gland neoplasms
MeSH terms: Case Reports

Eccrine angiomatous hamartoma is rare, slow-growing, and benign neoplasm that is diagnosed based on clinical characteristics and histological findings. It usually presents as a solitary nodule on the extremities and may arise at birth or in childhood. Although it is usually asymptomatic, in some cases it can cause pain and hyperhidrosis. From a histological perspective, it is characterized by an increase in the number of eccrine glands and a proliferation of vascular channels. We present the case of a 26-year-old woman who developed an eccrine angiomatous hamartoma in her right leg. The rapid growth of the lesion during pregnancy coupled with the challenges posed by a superficial biopsy, complicated the differential diagnosis.
Deep Brain Stimulation for an Unusual Presentation of Myoclonus Dystonia Associated with Russell-Silver Syndrome
Authors: Danielle S Shpiner, Taylor K Peabody, Corneliu C Luca, Jonathan Jagid, Henry Moore
Journal: Tremor Other Hyperkinet Mov (N Y) (2023)
Keywords: russell silver syndrome, deep brain stimulation, myoclonus dystonia, uniparental disomy
MeSH terms: Deep Brain Stimulation / methods, Dystonia / complications, Dystonia / genetics, Dystonia / therapy, Myoclonus / complications, Myoclonus / genetics, Myoclonus / therapy, Silver-Russell Syndrome / genetics, Case Reports, Adult, Female, Humans, Uniparental Disomy, Young Adult, Myoclonic dystonia

Background:
Myoclonus dystonia syndrome typically results from autosomal dominant mutations in the epsilon-sarcoglycan gene (SGCE) via the paternally expressed allele on chromosome 7q21. There is evidence that deep brain stimulation (DBS) is beneficial for this genotype, however, there are few prior case reports on DBS for myoclonus dystonia syndrome secondary to other confirmed genetic etiologies.
Case report:
A 20-year-old female with concomitant Russell-Silver syndrome and myoclonus dystonia syndrome secondary to maternal uniparental disomy of chromosome 7 (mUPD7) presented for medically refractory symptoms. She underwent DBS surgery targeting the bilateral globus pallidus interna with positive effects that persisted 16 months post-procedure.
Discussion:
We present a patient with the mUPD7 genotype for myoclonus dystonia syndrome who exhibited a similar, if not superior, response to DBS when compared to patients with other genotypes.
Highlights:
This report outlines the first described case of successful deep brain stimulation treatment for a rare genetic variant of myoclonus dystonia syndrome caused by uniparental disomy at chromosome 7. These findings may expand treatment options for patients with similar conditions.
A case of angioimmunoblastic T-cell lymphoma presenting with migration of lung shadows
Authors: Tomoya Maruyama, Takashi Ishiguro, Kenji Takano, Yoshihiko Shimizu
Journal: Respir Med Case Rep (2023)
Keywords: angioimmunoblastic t-cell lymphoma, common variant immunodeficiency, epstein-barr virus, migration, wandering
MeSH terms: Case Reports

A 62-year-old woman presented with chronic cough. Chest CT showed multiple nodules and consolidation. Bronchoscopy could not confirm a specific diagnosis. Because her symptoms and lung opacities improved spontaneously, she was followed without treatment. Seven months later, chest radiography showed worsening of consolidation and a tumorous shadow. After performing cervical lymph node and lung tissue biopsies, we diagnosed her as having angioimmunoblastic T-cell lymphoma (AITL). Cases of AITL showing migration of lung shadows have not been reported. AITL development is influenced by immunodeficiency and reactivation of EBV, and migration of lung opacities may be related to the patient's immune status.
A Case of TAFRO Syndrome Developed after COVID-19 Vaccination
Authors: Hitomi Hirose, Hitoshi Suzuki, Yukako Umezawa, Masako Iwasaki, Hiromitsu Fukuda, Hisatsugu Takahara, Shigeki Tomita, Yusuke Suzuki
Journal: Case Rep Nephrol (2023)
MeSH terms: Case Reports

TAFRO syndrome is a systemic inflammatory disorder, which is characterized by thrombocytopenia, anasarca, fever, reticulin myelofibrosis, renal dysfunction, and organomegaly. It often presents with progressive clinical symptoms and can be fatal. COVID-19 vaccination is important to reduce the number of COVID-19-infected populations and lower the risk of becoming severe. However, serious adverse events have been reported. TAFRO syndrome that progresses after the COVID-19 mRNA vaccination has not yet been reported. A 45-year-old man developed fever, gross hematuria, renal dysfunction, pleural effusions, and ascites immediately after vaccination. This case fulfilled three major categories (thrombocytopenia, anasarca, and systemic inflammation) and two minor categories (renal insufficiency and myelofibrosis) and was diagnosed with TAFRO syndrome. High-dose steroid treatment was initiated, followed by prednisolone administration. After treatment, renal dysfunction and fluid retention were resolved. Universal vaccination against COVID-19 is important for lowering the risk of spreading COVID-19 infection. Several complications, such as renal, hematological, and heart diseases, have been reported; however, its pathogenesis is unclear. The possibility of various complications after the COVID-19 vaccination, including TAFRO syndrome, should be considered.
Case report: Complete paternal isodisomy on chromosome 18 induces methylation changes in PARD6G-AS1 promotor in a case with arthrogryposis
Authors: Johanna Moch, Maximilian Radtke, Janina Gburek-Augustat, Maike Karnstedt, Senta Schönnagel, Stephan H Drukewitz, Laura Pilgram, Julia Hentschel, Isabell Schumann
Journal: Front Genet (2023)
Keywords: allele frequency, case report, gene regulation, imprinting, methylome, next-generation-sequencing, uniparental disomy
MeSH terms: Case Reports

Uniparental disomy (UPD) is the inheritance of both alleles of a chromosome from only one parent. So far, the detection of UPDs in sequencing data is not well established and a known gap in next-generation sequencing (NGS) diagnostics. By developing a new tool for UPD detection, we re-evaluated an eight-year-old individual presenting with scoliosis, muscle weakness and global developmental delay. Previous panel analysis identified a homozygous likely pathogenic loss-of-function variant in the PIEZO2-gene associated with arthrogryposis (OMIM # 617146). Interestingly, during a re-evaluation process, we identified a region of homozygosity (ROH) covering over 95% of chromosome 18. Segregation and microsatellite analysis within the family revealed that only the father is a heterozygous carrier of the variant in PIEZO2 and confirmed paternal uniparental isodisomy (iUPD) on chromosome 18 in the individual. Further methylation analysis indicated demethylation of the promotor region of PARD6G-AS1, which is described to be maternally imprinted and could possibly influence the individuals' phenotype. Our report describes the first complete iUPD on chromosome 18 and highlights that UPDs can be a cause for homozygous pathogenic variants, which reduces the risk of reoccurrence in case of a new pregnancy in comparison to an autosomal recessive inheritance trait significantly.
Uncommon Haematological Transformation: Chronic Myeloid Leukaemia Transitioning Into Plasma Cell Leukaemia in a Single Patient
Authors: Mili A Jain, Sourya Acharya, Aryan S Pal, Lalit Raut
Journal: Cureus (2024)
Keywords: chronic myeloid leukaemia, imatinib, leukaemia, myelocytes, peripheral smear, plasma cell leukaemia
MeSH terms: Case Reports

A 40-year-old male patient who was a known case of chronic myeloid leukaemia (CML) was diagnosed two years back on tab imatinib 400 mg/day; he came with complaints of easy fatigability, syncopal attacks, and bone pain associated with low-grade fever for 15 days. Repeat haematological profile and a peripheral smear of the patient suggested features of plasma cell leukaemia (PCL)/plasma cell dyscrasia (PCD). A definitive treatment protocol of lenalidomide, bortezomib, and dexamethasone for PCL was prescribed to the patient. This medical case study emphasizes the rare possibility of the transformation of CML into PCL and the possible trigger of tyrosine kinase inhibitor for the same.
The Clinical Spectrum of Adrenoleukodystrophy at a Portuguese Tertiary Hospital: Case Series and Review of Literature
Authors: Catarina Menezes, Ana Losa, Sara Mosca, Ana de Carvalho Vaz, Catarina M Figueiredo, Cristina Garrido, Teresa Borges, Joana Borges Correia
Journal: Cureus (2024)
Keywords: adrenal insufficiency (ai), cerebral x-linked adrenoleukodystrophy, demyelinating disorders, peroxisomal disorders, x- linked adrenoleukodystrophy
MeSH terms: Case Reports

Adrenoleukodystrophy, a rare genetic disease associated with the X chromosome (X-ALD - X-linked adrenoleukodystrophy), predominantly affects males and stems from mutations in the ABCD1 gene, responsible for transporting very long chain fatty acids (VLCFA) into peroxisomes. It leads to adrenal insufficiency (AI) and axonal demyelination. In males, the phenotype varies from isolated adrenocortical insufficiency and progressive myelopathy to cerebral adrenoleukodystrophy (CALD). The aim of this case series is to characterize patients with different clinical presentations of X-ALD with follow-up at a tertiary Portuguese hospital. All four patients were males, and the median age at the diagnosis was 5 years. Three patients were diagnosed through family screening, with the oldest already displaying hyperpigmentation. Two distinct forms were identified: adolescent CALD (25%) and isolated primary adrenal insufficiency (75%). Analytical studies revealed elevated plasma VLCFA levels in all cases, and genetic analysis demonstrated two different mutations in the ABCD1 gene. This disorder requires early diagnosis for improved prognosis. Screening male children with primary AIfor X-ALD using a VLCFA panel should be considered, particularly after ruling out the most common causes or when learning difficulties are evident. Genetic confirmation of the diagnosis is essential, enabling genetic counseling, family planning, and preimplantation genetic diagnosis.
Pseudoangiomatous stromal hyperplasia: a rare cause of gynecomastia in men
Authors: Sarah Saoud, Doha Arreyouchi, Anas Ankiz, Anass Haloui, Nassira Karich, Amal Bennani, Ayat Allah Oufkir
Journal: Case Reports Plast Surg Hand Surg (2024)
Keywords: pash, gynecomastia, male breast
MeSH terms: Case Reports

A 17-year-old male with chest malformation and left breast enlargement underwent surgery for gynecomastia. Histological examination revealed mammary fibrous stroma with ductal hyperplasia and features of pseudoangiomatous stromal hyperplasia. Postoperative follow-up showed no complications, but 8 months later, the patient experienced a mild recurrence with enlargement of the nipple-areolar complex. Although recommended for secondary glandular resection, the patient declined further surgery.