OpenMed/multicare-articles huggingface dataset:
Interpersonal psychotherapy for traumatic grief following a loss due to COVID-19: a case report
Authors: Farah Deena Abdul Samad, Xavier Vincent Pereira, Siew Koon Chong, Muhammad Hanif Bin Abdul Latif
Journal: Front Psychiatry (2023)
Keywords: covid-19 pandemic, complicated grief, grief and loss, interpersonal psychotherapy, posttraumatic stress disorder, traumatic grief
MeSH terms: Case Reports

Interpersonal psychotherapy (IPT) is a highly regarded evidence-based psychotherapy that aims to alleviate the suffering of clients and improve their interpersonal functioning. Research has demonstrated the effectiveness of IPT in depressive, bipolar and eating disorders. IPT also focuses on grief and loss as a problem area to help clients address and process their grief symptoms, leading them to reach a phase of finding meaning. However, traumatic grief which is characterized by someone who has both symptoms of trauma and grief can further complicate treatment. As for Posttraumatic Stress Disorder (PTSD), IPT can be a choice of treatment by addressing perceived isolation and emotional dysregulation through mobilizing adequate social support. This case study highlights the efficacy of IPT in treating complicated grief with traumatic experiences caused by the loss of a loved one during the COVID-19 pandemic, without undergoing exposure-based therapy. The treatment course consisted of 12 sessions scheduled twice weekly, and the client received antidepressant medication augmented with antipsychotic medication. After undergoing IPT, the client experienced an improvement in symptoms, gradual recovery of functional disability, and more meaningful interpersonal relationships. The case study presented provides evidence to suggest that IPT is a promising treatment approach for individuals struggling with trauma related to grief.
Behavioral Changes in Patients With Prader-Willi Syndrome Can Mask Severe Physical Illness
Authors: Liselotte Van Loo, Annick Vogels, Anne Rochtus
Journal: JCEM Case Rep (2023)
Keywords: prader-willi syndrome, behavioral changes, severe underlying illness
MeSH terms: Case Reports

Behavioral and psychiatric problems are common in patients with Prader-Willi syndrome (PWS), while physical complaints such as pain, fever, and vomiting are rare due to a high pain threshold and dysregulation of temperature control. PWS patients have an increased mortality rate, some due to undiagnosed life-threatening diseases. We describe 2 patients with PWS whose behavioral changes, initially thought to be part of their behavioral phenotype, delayed the final diagnosis of a life-threatening underlying illness. A 13-year-old girl with PWS presented with a sudden change in behavior including aggression, scratching, and self-injury. She was seen by several health care providers, and after 5 months the diagnosis of pyosalpinx was made, for which laparoscopic resection of an infected tailgut cyst was performed, resolving the behavioral symptoms. A 38-year-old man with PWS presented with recurrent vague inguinal pain and nonepileptic seizures. After several years of consulting physicians and psychiatrists, including several hospital admissions, the diagnosis of bilateral inguinal hernia was made. After surgical correction, the pain and seizures ceased. In PWS patients presenting with unexplained behavioral changes and unusual somatic complaints, clinicians should perform an extensive clinical examination and consider underlying physical illness rather than attribute the problem to the behavioral phenotype.
Exploring Non-puerperal Uterine Inversion: A Case Series
Authors: Ramanujam Shasindran, Nadaraja Dharshini, Naidu Aruku, Arajunan Sasikala
Journal: Cureus (2024)
Keywords: hultain's procedure, non-puerperal, ocejo’s technique, uterine inversion, vaginal hysterectomy
MeSH terms: Case Reports

Uterine inversion is a condition characterized by the turning of the uterus inside out. We present a case series of non-puerperal uterine inversion that we managed based on the clinical presentation. A total of three cases highlight the challenges associated with diagnosis and surgical management, respectively. As a side note, we also have reviewed the available literature regarding the type of management available.
Case Report: Abdominal surgery with the support of Impella (SURGELLA), a new frontier to be explored
Authors: Stefano Guarracini, Pierluigi Di Sebastiano, Fabio Francesco Di Mola, Raffaella Di Renzo, Lorenzo Mazzocchetti, Antonio M Calafiore, Michele Di Mauro
Journal: Front Cardiovasc Med (2024)
Keywords: cancer, circulatory assist device, heart failure, hemodynamics, impella
MeSH terms: Case Reports

A 74-year-old man with advanced heart failure was admitted to the hospital with a diagnosis of colorectal cancer, and he underwent surgery. To maintain stable hemodynamics, the Impella CP device was used. The patient was weaned from the device shortly after surgery, and he had an uneventful postoperative course. This case may pave the way for non-procrastinating surgery in patients with poorly stable hemodynamics.
Biochemical characterization on muscle tissue of a novel biallelic ACO2 mutation in an infant with progressive encephalopathy
Authors: Federica Silvia Ricci, Serena Stanga, Mariarosa Mezzanotte, Cristina Marinaccio, Rossella D'Alessandro, Alessandra Somà, Stefano Sottemano, Alessandra Conio, Giovanni Morana, Marco Spada, Marina Boido, Tiziana E Mongini
Journal: JIMD Rep (2023)
Keywords: aco2 gene, mitochondrial aconitase, neonatal neurometabolic disorder
MeSH terms: Case Reports

The ACO2 gene encodes the mitochondrial protein aconitate hydratase, which is responsible for catalyzing the interconversion of citrate into isocitrate in the tricarboxylic acid (TCA) cycle. Mitochondrial aconitase is expressed ubiquitously, and deficiencies in TCA-cycle enzymes have been reported to cause various neurodegenerative diseases due to disruption of cellular energy metabolism and development of oxidative stress. We investigated a severe early infantile-onset neurometabolic syndrome due to a homozygous novel variant in exon 13 of the ACO2 gene. The in vitro pathogenicity of this variant of unknown significance was demonstrated by the loss of both protein expression and its enzymatic activity on muscle tissue sample taken from the patient. The patient presented with progressive encephalopathy soon after birth, characterized by hypotonia, progressive severe muscle atrophy, and respiratory failure. Serial brain magnetic resonance imaging showed progressive abnormalities compatible with a metabolic disorder, possibly mitochondrial. Muscle biopsy disclosed moderate myopathic alterations and features consistent with a mitochondriopathy albeit nonspecific. The course was characterized by progressive worsening of the clinical and neurological picture, and the patient died at 5 months of age. This study provides the first report on the validation in muscle from human subjects regarding in vitro analysis for mitochondrial aconitase activity. To our knowledge, no prior reports have demonstrated a correlation of phenotypic and diagnostic characteristics with in vitro muscle enzymatic activity of mitochondrial aconitase in humans. In conclusion, this case further expands the genetic spectrum of ACO2 variants and defines a complex case of severe neonatal neurometabolic disorder.
Case report: Spontaneous regression of extruded lumbar disc herniation with acupuncture therapy
Authors: Haiwen Liang, Jianhao Huang
Journal: Front Neurol (2024)
Keywords: acupuncture, case report, conservative treatment, extruded lumbar disc herniation, regression
MeSH terms: Case Reports

Most patients with lumbar disc herniation (LDH) derive benefit from conservative treatment, prompting growing global interest in non-surgical approaches. Despite being recognized as one of the effective conservative therapies, there is currently limited evidence to support the sole efficacy of acupuncture in treating patients with acute extruded LDH. Here we report the case of a 52-year-old male who presented with low back pain and persistent radiating lower limb pain and numbness. Physical examination and magnetic resonance imaging (MRI) revealed an extruded LDH at the L5/S1 level, compressing the nerve root and causing severe radiculopathy symptoms. After 23 days of continuous inpatient acupuncture treatment, followed by 5 intermittent outpatient acupuncture treatment over 2 months, patient's pain and numbness was significantly alleviated and a followed-up MRI showed a remarkable regression of the extruded disc fragment. In this case, acupuncture as a monotherapy is safe and effective, but more conclusive evidence is needed.
Surgical reconstruction of a composite nasomaxillary and superior labial defect in a dog with a fascia lata graft, titanium mesh implant and angularis oris axial pattern flap
Authors: Tsung-Han Tu, Graham P Thatcher, Jason W Soukup
Journal: Front Vet Sci (2024)
Keywords: angularis oris axial pattern flap, dog, nasomaxillary defect, reconstruction, titanium mesh

Objective:
To document the successful surgical reconstruction of a composite nasomaxillary and superior labial defect using a fascia lata graft, titanium mesh and angularis oris axial pattern flap in a dog.
Case summary:
An estimated 2-year-old female intact mixed-breed dog was presented with a composite (hard and soft tissue) nasomaxillary defect, suspected to be caused by a chemical burn. Physical examination revealed nasal discharge, exposed bilateral maxilla and nasal bone, nasomaxillary fistula with air movement, and intrinsic discoloration of the left maxillary canine tooth. The soft tissue lesion extended from the nasal planum rostrally to the medial canthus of the left eye distally and from the right maxillary bone to include a full thickness loss of the left maxillary labium laterally. Computed tomographic images of the head showed chronic osteomyelitis of the maxilla, zygomatic and nasal bones with nasomaxillary fistula and numerous exposed roots of the left maxillary premolars. Staged surgical procedures to address the dentition and nasomaxillary defect were planned. The first procedure consisted of the extraction of periodontally compromised left maxillary premolars, and standard root canal therapy of bilateral maxillary canine teeth. The second procedure consisted of debridement of the non-vital soft and hard tissues and surgical reconstruction of the nasomaxillary defect after virtual surgical planning. Head computed tomography performed 5 months post-operatively revealed a decrease in the size of the osseous defect as well as the resolution of rhinitis.
Clinical relevance:
This case demonstrates the feasibility of using a combination of soft tissue graft, titanium mesh, and axial pattern flap in managing nasomaxillary defects. Such defects can lead to chronic rhinitis, infection, discomfort, and long-term morbidity. This case report provides a novel but practical approach for managing defects in the nasomaxillary region in dogs.
Case Report: Long-term metabolic response of metastatic uveal melanoma to pembrolizumab on FDG-PET/CT despite a serial pseudoprogressions phenomenon
Authors: Karim Amrane, Coline Le Meur, Philippe Thuillier, Jacques Dzuko Kamga, Pierre Alemany, Frederic Chauvelot, Clémence Niel, Alex Bellange, Ronan Abgral
Journal: Front Immunol (2023)
Keywords: fdg-pet, immune checkpoint inhibition, pembrolizumab, pseudoprogression, uveal melanoma
MeSH terms: Melanoma / diagnostic imaging, Melanoma / drug therapy, Melanoma / pathology, Case Reports, Aged, 80 and over, Fluorodeoxyglucose F18, Humans, Positron Emission Tomography Computed Tomography / methods, Positron-Emission Tomography / methods, Fluorodeoxyglucose F18, pembrolizumab, Uveal melanoma

Uveal melanoma (UV) is a rare and aggressive melanoma with poor 1-year survival. up to 50% of UV patients develop metastases, mainly to the liver. Here, the authors present a 2-deoxy-2-[18F] fluoro-D-glucose positron emission tomography (18F-FDG-PET) study of a very rare case of secondarily metastatic UV in an 81-year-old Caucasian with a dramatic response to pembrolizumab associated with serial pseudogression. 18F-FDG-PET associated with clinical status and peripheral blood derived neutrophil-to-lymphocyte ratio (dNLR) were performed to guide therapeutic strategy due to an atypical pseudoprogression phenomenon.
TSC2 nonsense mutation in angiomyolipoma with epithelial cysts: a case report and literature review
Authors: Hong Song, Guoliang Mao, Nanlin Jiao, Jiajia Li, Wanwan Gao, Yinhua Liu, Linming Lu
Journal: Front Oncol (2024)
Keywords: amlec, pi3k-akt, tsc2, angiomyolipoma, case report
MeSH terms: Case Reports

Background:
Angiomyolipoma with epithelial cysts (AMLEC) is an extremely rare subtype of kidney angiomyolipoma that contains epithelial-lined cysts. The most distinctive immunohistochemical feature of AMLEC is its immunoreactivity with melanocytic markers. AMLEC also has a distinct histological structure, which aids in its pathological diagnosis. To date 27 cases of AMLEC have been reported in 11 case series. However, the molecular biology underlying the pathogenesis of AMLEC remains unexplored.
Case report:
A 30-year-old female was diagnosed with AMLEC and underwent partial nephrectomy. Histologically, the cross-section of cystic tissue revealed a multilocular appearance, with some cysts containing thrombus-like material, and the wall thickness was approximately 0.2 ~ 0.3 cm. Additionally, the compact subepithelial cellular stroma showed strong and diffuse nuclear labeling for estrogen receptor, progesterone receptor, and CD10, as well as HMB45 and Melan A, which are markers of melanocytic differentiation. Furthermore, using a DNA targeted sequencing panel with next-generation sequencing, we identified a nonsense mutation in TSC Complex Subunit 2 (TSC2) gene, resulting in the formation of a premature termination codon. Moreover, the mutated genes found to be enriched in the PI3K-AKT pathway. The patient in this case had a favorable postoperative follow-up at 3 months.
Conclusion:
To the best of our knowledge, this study represents the first analysis of genotype mutations in AMLEC, providing valuable insights for future clinical practice. These findings have significant potential in guiding the understanding and management of AMLEC, paving the way for further research and advancements in the field.
Retrospective identification of the first cord blood-transplanted severe aplastic anemia in a STAT1-associated chronic mucocutaneous candidiasis family: case report, review of literature and pathophysiologic background
Authors: Franz-Martin Fink, Reinhard Höpfl, Martina Witsch-Baumgartner, Gabriele Kropshofer, Sabine Martin, Valentin Fink, Maximilian Heeg, Christina Peters, Johannes Zschocke, Oskar A Haas
Journal: Front Immunol (2024)
Keywords: stat1, chronic mucocutaneous candidiasis (cmc), gain-of-function pathogenic variant, severe aplastic anemia (saa), transplantation
MeSH terms: Anemia, Aplastic / genetics, Candidiasis, Chronic Mucocutaneous / genetics, STAT1 Transcription Factor / genetics, STAT1 Transcription Factor / metabolism, Case Reports, Review, Adult, Cord Blood Stem Cell Transplantation, Female, Humans, Male, Pedigree, Retrospective Studies, STAT1 protein, human, STAT1 Transcription Factor

Severe aplastic anemia (SAA) is a life-threatening bone marrow failure syndrome whose development can be triggered by environmental, autoimmune, and/or genetic factors. The latter comprises germ line pathogenic variants in genes that bring about habitually predisposing syndromes as well as immune deficiencies that do so only occasionally. One of these disorders is the autosomal dominant form of chronic mucocutaneous candidiasis (CMC), which is defined by germ line STAT1 gain-of-function (GOF) pathogenic variants. The resultant overexpression and constitutive activation of STAT1 dysregulate the Janus kinase/signal transducer and activator of transcription 1 (STAT) signaling pathway, which normally organizes the development and proper interaction of different components of the immunologic and hematopoietic system. Although SAA is an extremely rare complication in this disorder, it gained a more widespread interest when it became clear that the underlying causative pathomechanism may, in a similar fashion, also be instrumental in at least some of the idiopathic SAA cases. Based on these premises, we present herein what is the historically most likely first cord blood-transplanted SAA case in a CMC family with a documented STAT1 GOF pathogenic variant. In addition, we recapitulate the characteristics of the six CMC SAA cases that have been reported so far and discuss the significance of STAT1 GOF pathogenic variants and other STAT1 signaling derangements in the context of these specific types of bone marrow failure syndromes. Because a constitutively activated STAT1 signaling, be it driven by STAT1 GOF germ line pathogenic variants or any other pathogenic variant-independent events, is apparently important for initiating and maintaining the SAA disease process, we propose to acknowledge that SAA is one of the definite disease manifestations in STAT1-mutated CMC cases. For the same reason, we deem it necessary to also incorporate molecular and functional analyses of STAT1 into the diagnostic work-up of SAA cases.
Intranodal palisaded myofibroblastoma in the submandibular gland region: a case report
Authors: Han Zhang, Min Wang, Liang Li, Shuo Shao, Ning Zheng
Journal: Front Oncol (2024)
Keywords: case report, intranodal palisaded myofibroblastoma, lymph node, magnetic resonance imaging, pathology, submandibular gland
MeSH terms: Case Reports

Intranodal palisaded myofibroblastoma (IPM) is a rare benign tumor of the lymph nodes, particularly in inguinal lymph nodes. IPM originating from the submandibular gland lymph nodes is rarely encountered in clinical practice. Herein, we report the case of a 31-year-old male patient with IPM of the submandibular gland region and describe in detail magnetic resonance imaging findings and pathology. Magnetic resonance imaging detected a heterogeneous lesion with a hypointense rim on T2-weighted imaging with specificity in the left submandibular gland region. This case report will contribute to the accumulation of experience in the diagnosis of this disease.
A not so incidental 'incidentaloma' - pediatric ganglioneuroma-associated cerebellar degeneration and super-refractory status epilepticus: case report and literature review
Authors: Albert Aboseif, Kaitlyn Palmer, Aaron W Abrams, Deepak Lachhwani, Elia Margarita Pestana Knight, Ahsan Moosa Naduvil Valappil, Andrew Zeft
Journal: Front Neurol (2023)
Keywords: autoimmune encephalitis (ae), cerebellar degeneration, ganglioneuroma, incidentaloma adrenal tumor, paraneoplastic neurologic syndrome, super-refractory status epilepticus (srse)
MeSH terms: Case Reports

Paraneoplastic neurological disorders are rare in children, with paraneoplastic cerebellar degeneration (PCD) considered highly atypical. We describe a 13-year-old girl with progressive neurobehavioral regression, cerebellar ataxia, and intractable epilepsy presenting in super-refractory status epilepticus. After an extensive evaluation, her clinical picture was suggestive of probable autoimmune encephalitis (AE). Further diagnostic testing revealed a molecularly undefined neural-restricted autoantibody in both serum and CSF, raising suspicion over an adrenal mass previously considered incidental. Surgical resection led to a robust clinical improvement, and pathology revealed a benign ganglioneuroma. This report widens the spectrum of paraneoplastic manifestations of ganglioneuroma, reviews the diagnostic approach to antibody-negative pediatric AE, and raises important clinical considerations regarding benign and incidentally found tumors in the setting of a suspected paraneoplastic neurologic syndrome.
Achieving Digestive Autonomy and Gastrointestinal Continuity in a Patient with Short Bowel Syndrome Secondary to Concomitant Jejunal Atresia and Small Intestinal Hirschsprung's Disease
Authors: Alejandro R Velasquez, Thomas O Xu, Yu-Ting Liu, Sulaiman Kidwai, Teresa L Russell, Laura Tiusaba, Krystal Artis, Anthony Sandler, Andrea Badillo, Marc A Levitt
Journal: European J Pediatr Surg Rep (2024)
Keywords: hirschsprung's pull-through, step procedure, jejunal atresia, short bowel syndrome, total colonic hirschsprung's disease
MeSH terms: Case Reports

Concomitant presentation of jejunal atresia and Hirschsprung's disease is rare and places children at high risk for developing short bowel syndrome and parenteral nutrition dependence, which can affect the feasibility/timing of pull-through. A patient was born with jejunal atresia with a delayed diagnosis of Hirschsprung's disease. After several procedures and bowel resections, the patient was ultimately left with an end jejunostomy and long Hartman's pouch with short bowel syndrome, dependent on parenteral nutrition. The patient initially presented to our institution at age 2 with failure to thrive secondary to an obstructed/dilated jejunostomy and mild enterocolitis of their defunctionalized segment. The patient subsequently underwent completion of subtotal colectomy and revision of jejunostomy utilizing a serial transverse enteroplasty to manage the dilated bowel and gain length. The patient was able to wean off parenteral nutrition and achieve nutritional autonomy by age 5. Following this, the patient was able to undergo an ileoanal pull-through. After the pull-through, the patient was able to pass stool independently and suffered no major complications to date. Serial transverse enteroplasty can be successfully utilized in patients with a history of Hirschsprung's disease and jejunal atresia to achieve nutritional autonomy and ultimately reestablish gastrointestinal continuity with pull-through.
Impressive and Prolonged Response with Lenvatinib in a Highly Pretreated Patient with Metastatic Clear Cell Renal Cancer: A Case Report
Authors: Sara Demurtas, Mara Frascaroli, Federico Sottotetti, Alessandro Rametta, Giuseppe Procopio, Laura Deborah Locati
Journal: J Kidney Cancer VHL (2024)
Keywords: vhl mutation, case report, lenvatinib, renal cell carcinoma, tyrosine kinase inhibitor
MeSH terms: Case Reports

Clear cell renal carcinoma (ccRCC) can occur in young people and could be associated with an aggressive behavior. While for the first-line treatment in metastatic disease, there is an agreement to rely on an immunotherapy (IO)-based combination regimen, no standard second-line regimens exist. Generally, tyrosine kinase inhibitors (TKIs) are employed, even in sequence, although no trials have demonstrated yet the best succession. Herein, we present the case of a 39-year-old male, with a very aggressive ccRCC with somatic VHL mutation and distant metastases at diagnosis. He was treated with four different lines of therapies, including TKIs, with progressive multiple tumor deposits. Lenvatinib alone as the fifth line was able to induce a remarkable and prolonged tumor shrinkage with manageable toxicities.