OpenMed/multicare-articles huggingface dataset:
Timbral cues underlie instrument-specific absolute pitch in expert oboists
Authors: Niels Chr Hansen, Lindsey Reymore
Journal: PLoS One (2024)
MeSH terms: Cues, Music, Pitch Perception / physiology, Acoustic Stimulation, Adult, Female, Humans, Male, Middle Aged, Young Adult

While absolute pitch (AP)-the ability to identify musical pitches without external reference-is rare even in professional musicians, anecdotal evidence and case-report data suggest that some musicians without traditional AP can nonetheless better name notes played on their musical instrument of expertise than notes played on instruments less familiar to them. We have called this gain in AP ability "instrument-specific absolute pitch" (ISAP). Here, we report the results of the first two experiments designed to investigate ISAP in professional oboists. In Experiment 1 (n = 40), superiority for identifying the pitch of oboe over piano tones varied along a continuum, with 37.5% of oboists demonstrating significant ISAP. Variance in accuracy across pitches was higher among ISAP-possessors than ISAP-non-possessors, suggestive of internalized timbral idiosyncrasies, and the use of timbral cues was the second-most commonly reported task strategy. For both timbres, both groups performed more accurately for pitches associated with white than black piano keys. In Experiment 2 (n = 12), oboists with ISAP were less accurate in pitch identification when oboe tones were artificially pitch-shifted. The use of timbral idiosyncrasies thus may constitute a widespread mechanism of ISAP. Motor interference, conversely, did not significantly reduce accuracy. This study offers the first evidence of ISAP among highly trained musicians and that reliance on subtle timbral (or intonational) idiosyncrasies may constitute an underlying mechanism of this ability in expert oboists. This provides a path forward for future studies extending the scientific understanding of ISAP to other instrument types, expertise levels, and musical contexts. More generally, this may deepen knowledge of specialized expertise, representing a range of implicit abilities that are not addressed directly in training, but which may develop through practice of a related skill set.
Case report: Disseminated Cladophialophora bantiana phaeohyphomycosis in a dog with hepatic dysfunction, and concurrent ehrlichiosis
Authors: Flavio H Alonso, Heather Fenton, Ananda Muller, Mark A Freeman, Anne A M J Becker, Kerry Rolph, Nicole Abramo, Gilda Rawlins, Liam Kitson, Erica Kessel, Mary Anna Thrall
Journal: Front Vet Sci (2024)
Keywords: acquired portosystemic shunt, ascites, fungal infection, hepatopathy, low-protein transudate, portal hypertension
MeSH terms: Case Reports

A 1-year-old mixed breed dog initially presented with marked ascites due to a low-protein transudate resulting from portal hypertension. Laboratory evaluation revealed non-regenerative anemia, lymphopenia, thrombocytopenia, evidence of hepatic insufficiency [hypoalbuminemia, decreased urea, increased post-prandial bile acids, prolonged activated partial thromboplastin time (aPTT)] and Ehrlichia canis infection. Approximately a week later, the dog was declining and was euthanized. On autopsy, multifocal hepatic granulomas and acquired portosystemic shunts (APSS) were seen. Imprint cytology revealed fungal hyphae and pyogranulomatous inflammation in the liver and brain. Disseminated Cladophialophora bantiana phaeohyphomycosis was diagnosed by histologic examination, culture and PCR. Immunosuppression due to ehrlichiosis is suspected to have predisposed this animal to fungal infection. To the authors' knowledge, this is the first report of C. bantiana in the West Indies.
A case report of Cogan's syndrome with recurrent coronary stenosis
Authors: Gao Na, Zhang Nan, Meng Jingjing, Pan Lili
Journal: Front Cardiovasc Med (2024)
Keywords: cogan’s syndrome, case report, coronary angiography, recurrent coronary stenosis, variable vasculitis
MeSH terms: Case Reports

Cogan's syndrome (CS) is recognized as a form of variable vasculitis. This report presents the case of a middle-aged woman experiencing recurrent coronary artery stenosis, accompanied by a history of non-syphilis keratitis, vestibular auditory symptoms, and venous thrombosis. Positron emission tomography/computed tomography revealed an elevated uptake of (18)F-fluorodeoxyglucose in the subclavian artery, common carotid artery, aortic arch, and thoracic aorta. A diagnosis of Cogan's syndrome was made. The aim of this study was to increase clinicians' awareness of the vascular manifestations in CS and to emphasize the importance of thorough history taking. CS should be included in the differential diagnosis when patients present with recurrent coronary artery stenosis.
The first compound heterozygous mutations in SLC12A3 and PDX1 genes: a unique presentation of Gitelman syndrome with distinct insulin resistance and familial diabetes insights
Authors: Yaqi Yin, Liqin Li, Songyan Yu, Yu Xin, Lili Zhu, Xiao Hu, Kang Chen, Weijun Gu, Yiming Mu, Li Zang, Zhaohui Lyu
Journal: Front Endocrinol (Lausanne) (2024)
Keywords: gitelman syndrome, mody4, pdx1, slc12a3, insulin resistance
MeSH terms: Diabetes Mellitus / genetics, Gitelman Syndrome / diagnosis, Gitelman Syndrome / genetics, Insulin Resistance / genetics, Case Reports, Glucose, Humans, Male, Mutation, Solute Carrier Family 12, Member 3 / genetics, Solute Carrier Family 12, Member 3, Glucose, SLC12A3 protein, human

Background:
Gitelman Syndrome (GS) patients frequently exhibit disrupted glucose metabolism, attributed to hypokalemia, hypomagnesemia and heightened aldosterone. This study delved into the genetic underpinnings linked to insulin resistance and diabetes in a GS patient, contextualized within his family history.
Methods:
The hydrochlorothiazide and furosemide loading test were performed to ascertain the presence of GS. Oral glucose tolerance test (OGTT) evaluated glucose metabolism and insulin sensitivity. Whole-exome sequencing, validated by Sanger sequencing, was employed to confirm gene mutations, which were then tracked among the patient's relatives.
Results:
Symptoms and laboratory examination confirmed the clinical diagnosis of GS. Comprehensive whole-exome sequencing, augmented by Sanger sequencing validation, revealed a compound heterozygous mutation within the SLC12A3 gene (c.1108G>C in exon 9, c.676G>A in exon 5 and c.2398G>A in exon 20) in the patient. The OGTT affirmed diabetes and heightened insulin resistance, distinct from previous patients with GS we evaluated. Further genetic analysis identified a missense heterozygous mutation (c.97C>G in exon 1) within the PDX1 gene, inherited from the patient's diabetic mother without GS. Furthermore, the patient's brother, with impaired glucose tolerance but regular potassium levels, also bore this mutation, hinting at additional impacts of the PDX1 gene mutation on glucose metabolism regulation beyond the known impacts of GS.
Conclusion:
This study unveils unprecedented compound heterozygous mutations in the SLC12A3 and PDX1 genes in a GS patient. These findings illuminate the potential complex genetic factors influencing glucose metabolism disruptions in GS.
Take-home message:
This research uncovers a novel combination of SLC12A3 and PDX1 gene mutations in a Gitelman Syndrome patient, revealing intricate genetic factors that potentially disrupt glucose metabolism and shedding light on familial diabetes links.
Purse-string suture with nylon cords and metal clips for the treatment of duodenal fistulae under the endoscope: a case report
Authors: Lei Wang, Ruiya Zhang, Bochu Wang, Guoxiong Zhou, Xiaorong Zhou, Run Meng
Journal: Front Med (Lausanne) (2024)
Keywords: duodenal fistulae, endoscope, metal clips, minimally invasive treatment, purse-string suture
MeSH terms: Case Reports

Purse-string suture with nylon cords and metal clips under the endoscope is a novel therapeutic technique which is minimally invasive and it is particularly indicated for the closure and repair of gastrointestinal fistula or perforations such as duodenal fistulae. Duodenal fistulae are often caused by medical manipulation, disease progression or trauma. Once this occurs, it leads to a series of pathophysiologic changes and a variety of complications. In most cases, these complications will exacerbate the damage to the organism, and the complications are difficult to treat and can lead to infections, nutrient loss, multi-organ dysfunction and many other adverse effects. In this case report, the use of endoscopic nylon cords combined with purse-string suture and metal clips in the treatment of duodenal fistula is presented and discussed. The patient was treated with endoscopic purse-string suture and the duodenal fistula was significantly improved. The results indicate that endoscopic purse-string suture is an effective strategy for the treatment of duodenal fistulae.
Case report: Exceptional disease progression in a 70-year-old patient: generalized melanosis and melanuria in the course of metastatic melanoma - a case study
Authors: Jacek Calik, Piotr Dzięgiel, Natalia Sauer
Journal: Front Oncol (2024)
Keywords: braf mutation, generalized melanosis, melanoma, melanuria, metastatic melanoma
MeSH terms: Case Reports

This case study documents an extraordinary disease progression in a 70-year-old patient diagnosed with metastatic melanoma. The patient's condition advanced to an unusual manifestation characterized by generalized melanosis and melanuria, a rare and foreboding complication of metastatic melanoma. The clinical presentation involved rapid-onset skin darkening, primarily affecting the face and torso, along with darkened urine, marking the onset of melanuria. Despite extensive diagnostic evaluations, including abdominal ultrasound, neck ultrasound, thoracic CT scans, and endoscopic examinations, the exact metastatic sites remained elusive, demonstrating the diagnostic challenges associated with this condition. Laboratory tests revealed abnormal hematological and biochemical markers, along with elevated S100 protein levels, indicating disease progression. The patient underwent a surgical skin biopsy that confirmed the diagnosis of metastatic melanoma, leading to a multidisciplinary approach to treatment. Following this, the patient-initiated chemotherapy with dacarbazine (DTIC). Regrettably, this was necessitated by the absence of reimbursement for BRAF and MEK inhibitors as well as immunotherapy, and it subsequently led to rapid disease progression and a decline in the patient's clinical condition. The patient's condition further complicated with erysipelas and increased distress, ultimately leading to their unfortunate demise. This case highlights the aggressive nature of generalized melanosis, characterized by a rapid clinical course, substantial pigmentation, and limited response to conventional chemotherapy. Importantly, the patient had a BRAF mutation, emphasizing the urgency of exploring alternative treatment strategies. Patients with a BRAF mutation are excellent candidates for BRAF and MEK inhibitor treatment, potentially allowing them to extend their lifespan if this therapy were available. The challenges encountered in diagnosing, managing, and treating this aggressive form of metastatic melanoma underline the need for early detection, tailored therapeutic approaches, and ongoing research efforts to improve patient outcomes in such cases.
Laparoscopic partial pancreatectomy through an advanced lateral approach as treatment for insulinoma in dogs: a case series
Authors: Justin N P Keulen, Sebastiaan A van Nimwegen
Journal: Front Vet Sci (2024)
Keywords: abdominal surgery, canine, companion animals, endocrine, minimally invasive, neoplasia, neuroendocrine, pancreas

A minimally invasive partial pancreatectomy was performed through a novel laparoscopic lateral flank approach in sternal-oblique recumbency in four clinical cases presented with an insulinoma. All four cases were female castrated dogs of older age (range 7-9 years) and different breeds (Wire haired dachshund, German shepherd, Jack Russel terrier, and Boxer), and all presented with episodic weakness, tremors, and/or seizures. The diagnosis was based on plasma glucose level below reference range with concomitant increased or normal insulin level. A laparoscopic approach was considered based on triple-phase contrast-enhanced computed tomography findings of the abdomen, revealing a pancreatic mass situated in the right pancreatic limb or left pancreatic limb without suspicion of metastasis. Laparoscopic procedures were performed without any major complications, and peri-operative glycemia increased to (supra-)normal levels in all cases. Histopathologic reports qualified the masses as neuroendocrine carcinomas, and in conjunction with the clinical picture, this neoplasia was further defined as insulinoma. Post-operative care in an intensive care unit was of short duration, and all animals were discharged being clinically normal and normoglycemic in between 1.5 and 2.5-day post-surgery. At short-term follow-up, no dogs showed clinical abnormalities, all recovered well from the surgical procedure, and blood glucose levels remained in the normal range. During long-term follow-up, 2 cases remained clinically normal at the time of writing, 564 and 1,211 days after surgery, 1 dog had recurrence of hypoglycemic episodes after 246 days and was euthanized after 673 days of surgery due to progressing disease, and 1 dog was euthanized after 1,028 days of surgery due to reasons unrelated to the insulinoma. Survival times ranged from 599 to 1,232 days after diagnosis. Considering the highly metastatic nature and difficulty of full laparoscopic staging of insulinoma patients, thorough pre-operative disease staging is warranted when considering a laparoscopic approach. This case series shows the feasibility of a novel laparoscopic flank approach for right and left partial pancreatectomy in dogs. Furthermore, proper case selection resulted in favorable outcome in these insulinoma patients.
Ceramic fragmentation after total hip arthroplasty: two case reports and literature review
Authors: Tingyu Wu, Sijia Guo, Yaping Jiang, Weipeng Shi, Yingzhen Wang, Tao Li
Journal: Front Surg (2024)
Keywords: case report, ceramic fracture, ceramic fragmentation, literature review, total hip arthroplasty
MeSH terms: Case Reports

Background:
Ceramic fragmentation is a rare but serious complication after total hip arthroplasty (THA). We reviewed the PubMed literature from 1990 to 2023 and found only 31 case reports of ceramic fragmentation after THA. Our case reports help to expand understanding of this rare complication. We shared our surgical experience and identified an ideal material for revision surgery, which can serve as a useful reference for other orthopedic surgeons to perform ceramic fragmentation revision surgery in the future. We also analyzed the possible causes, diagnosis, and treatment opinions of ceramic fragmentation.
Case presentation:
This study presents two cases of ceramic fragmentation after THA. One patient had ceramic head fragmentation 10 years after the primary THA, and one patient had ceramic liner fragmentation 5 years after the primary THA. Both patients presented with pain, and one patient also reported a clicking sound in the hip. The two patients described here had BMIs of 23.7 and 23.1, respectively. Both patients' ceramic fragmentation were due to aseptic loosening, not periprosthetic joint infections, as confirmed by negative microbiological cultures. Radiographic examinations of both patients revealed radio-opaque wear debris around the hip joint prostheses and we describe the surgical protocols and intraoperative findings in both cases in detail.
Conclusion:
Our cases and the literature suggest that ceramic fragmentation can occur at any time after THA. The most immediate symptoms are pain and noise, but some patients may be asymptomatic. Ceramic on polyethylene bearings is recommended for revision surgery whenever possible; metal bearings should be avoided.
Mature Teratoma at the Lumbar Spinal Cord: A Case Report and Literature Review
Authors: Lilian Zavala-Romero, Eliezer Villanueva-Castro, Rudradeep Datta-Banik, Alexis Genaro Ortiz-Altamirano, María Magdalena Rodriguez-Esquivel, Jesús Cienfuegos-Meza, Juan Nicasio Arriada-Mendicoa
Journal: Cureus (2024)
Keywords: intramedullary tumor, lumbar intradural tumor surgery, neurosurgery, spinal cord tumor surgery, spinal teratoma, teratoma
MeSH terms: Case Reports

Mature spinal teratoma is a rare type of germ cell tumor that arises from any of the three germ cell layers (ectoderm, mesoderm, and endoderm) and consists of differentiated tissues and structures that reflect the cellular organization and morphology of normal adult tissues. It has the ability to grow independently and cause compressive symptoms when found in this rare location. In this article, we present the case of a 29-year-old male patient with the onset of neurological symptoms beginning with pelvic limb paresthesias and progressing to back pain. Magnetic resonance imaging (MRI) revealed a tumor at L1-L4, which was resected by laminotomy, and histopathology revealed a mature intradural teratoma. Fortunately, this histologic type had a good prognosis for our patient, who had a significant clinical improvement. A systematic review was performed using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) methodology with PubMed and Google Scholar to find similar case reports and to summarize the main features of this disease, which contributes to the understanding of its diagnostic presentation, treatment, and prognosis, improving clinical practice in the management of similar cases. The rarity of this condition, together with its wide clinical heterogeneity and prognosis, underscores the importance of a thorough evaluation of cases of intramedullary lesions, where the consideration of uncommon diseases in the differential diagnosis should be highlighted.
The Autoimmune/Inflammatory Syndrome Induced by Adjuvants (ASIA), Associated with Renal Compromise and Cutaneous Calcinosis: A Case Report and Literature Review
Authors: Cristian Betancur Henao, Juan Guillermo Rifaldo, Rafael Vicente-Pérez, Maria Cristina Martinez-Avila, Rodrigo Daza-Arnedo, Jorge Rico-Fontalvo
Journal: Case Rep Nephrol (2024)
MeSH terms: Case Reports

The autoimmune/inflammatory syndrome induced by adjuvants (ASIA) was first introduced in 2011 to provide a more precise syndromic characterization of clinical manifestations observed in patients exposed to adjuvant substances such as biopolymers and silicone, among others. The clinical spectrum of this entity is variable, ranging from local involvement to potentially fatal immune-mediated systemic involvement. The interest in ASIA has grown in recent years, reinforcing diagnostic criteria and deepening the understanding of its pathophysiological behavior. This case report highlights a distinct range of clinical symptoms, such as general symptoms, advanced-stage chronic kidney disease, persistent hypercalcemia with suppressed parathyroid hormone (PTH), bilateral nephrocalcinosis, cutaneous calcinosis, and the presence of positive autoantibodies, emphasizing the significance of understanding this condition.
Case series: raw, whole, plant-based nutrition protocol rapidly reverses symptoms in three women with systemic lupus erythematosus and Sjögren's syndrome
Authors: Brooke Goldner, Kara Livingston Staffier
Journal: Front Nutr (2024)
Keywords: sjögren’s syndrome, autoimmune, disease reversal, lifestyle medicine, raw foods, systemic lupus erythematosus, vegan, whole-food, plant-based (wfpb)
MeSH terms: Case Reports

Systemic lupus erythematosus (SLE) and Sjögren's syndrome (SS) are chronic autoimmune diseases. Symptoms of SLE can vary widely but often include fatigue, pain, photosensitivity, and, in some cases, nephritis. SS is frequently characterized by extreme dry eye and mouth, resulting from damage to moisture-producing glands, and is often present in combination with SLE. While the health benefits of plant-based diets have been well-established with respect to weight and cardiometabolic outcomes, less research is available to support the role of diet in treatment and management of autoimmune disease. This case series presents three women with SLE and SS who adopted a nutrition protocol to reverse symptoms of autoimmune disease. The protocol emphasizes leafy greens, cruciferous vegetables, omega-3 polyunsaturated fatty acids, and water, and includes predominately raw foods. The three patients reported dramatic improvements in physical symptoms, with nearly all symptoms of SLE and SS resolving after 4 weeks or less of adhering to the protocol. All three patients have remained symptom-free, two of whom have remained symptom-free for 6+ years with no recent medication use. Patients and practitioners should be made aware of the promising possibility of food as medicine in the treatment of SLE and SS. Future research should explore whether dietary changes may be a potential treatment strategy for individuals suffering from severe symptoms and poor quality of life due to SLE and SS.
Severe SARS-CoV-2 and subsequent fungal infections after CAR T-cell therapy for relapsed/refractory multiple myeloma: a challenging and happy ending fight
Authors: Claudia Ielo, Francesca Fazio, Serena Rocchi, Ilaria Rizzello, Katia Mancuso, Elena Zamagni, Michele Cavo, Maria Teresa Petrucci
Journal: Leuk Res Rep (2023)
Keywords: cellular therapies, infectious complications, multiple myeloma
MeSH terms: Case Reports

Chimeric antigen receptor (CAR) T-cells have unveiled a promising therapeutic horizon for relapsed/refractory multiple myeloma (R/R MM). Nevertheless, immune impairment induced by cellular therapies, previous treatments and MM itself could promote infectious events. COVID-19 could evolve into a life-threating infection in R/R MM patients who often have suboptimal responses to SARS-CoV-2 vaccines. Here, we describe a case of severe and long-lasting COVID-19 pneumonia after CAR T-cell therapy for R/R MM requiring a complex clinical management. Long-term infectious complications in MM patients undergoing CAR T-cells should be taken into consideration as they could counteract the efficacy of this new treatment.