OpenMed/multicare-articles huggingface dataset:
Case report: Rapid-onset parkinsonism after a hornet sting
Authors: Svetlana Tomic, Milorad Zjalic, Zvonimir Popovic, Zdravka Krivdic Dupan, Marija Heffer, Darija Snajder Mujkic, Dario Mandic, Silva Guljas, Igor N Petrovic
Journal: Front Neurol (2024)
Keywords: basal ganglia damage, insect, parkinsonism, rapid onset, sting
MeSH terms: Case Reports

Neurological manifestations with basal ganglia involvement following Hymenoptera stings are rare and clinically ill-defined conditions. We present a patient with acute parkinsonism non-responsive to levodopa, who developed striatal lesions after a hornet sting. We report his response to immunomodulatory treatment and subsequent clinical and brain magnetic resonance imaging (MRI) follow-up. We also searched the literature for patients with acute extrapyramidal syndromes following an insect sting. Fourteen cases have been published; 12 of them are reviewed here. The majority of cases presented with symmetric akinetic syndrome with axial rigidity and/or gait impairment. Six patients were treated with levodopa and only two of these had a modest response to therapy. Brain MRI/computed tomography scan revealed lesions of the basal ganglia, which resulted in fatal outcome in four patients, whereas only one achieved complete recovery. Clinicians should be aware of this rare but devastating cause of acute-onset parkinsonism and specific clinical presentation of this condition, and should consider prompt and prolonged immunomodulatory treatment to prevent irreversible basal ganglia damage.
A Case Report and Literature Review of Bilateral Cervical Chondrocutaneous Branchial Remnants
Authors: Yuehua He, Huiling Zhu, Hang Ji, Weining Huang, Zhongrong Liu
Journal: Case Rep Dermatol Med (2023)
MeSH terms: Case Reports

Chondrocutaneous branchial remnants (CCBRs) are rare congenital heterotopic tissue formations originating from the first or second embryonic branchial arches. Clinically, CCBRs are characterized predominantly by unilateral and solitary cartilaginous nodules found on the lower neck region. Herein, we present a case of CCBRs in a 9-year-old male patient who presented with horn-shaped projecting masses on either side of the anterior border of the sternocleidomastoid muscle. The pathological report following surgical resection revealed that the lesion was located in the dermis and consisted primarily of hyaline cartilage tissue enclosed by a fibrous capsule, with few local vascular proliferations. Based on the clinical and pathological features, the patient was ultimately diagnosed with congenital bilateral cervical chondrocutaneous branchial remnants.
Chondrosarcoma With Pulmonary Metastatic Calcifications: A Case Report and Review of the Literature
Authors: Paul F Hanona, Daniel Ezekwudo, Joseph Anderson, Ishmael Jaiyesimi
Journal: Cureus (2024)
Keywords: bone cancer, cartilage [c26411], high-grade chondrosarcoma, metastatic calcifications, rare cancers
MeSH terms: Case Reports

A chondrosarcoma with pulmonary metastatic calcifications is a rarely reported phenomenon. This report discusses chondrosarcomas and their clinical features, diagnosis, and treatment, using as an example the case of a 55-year-old female with a right pelvic chondrosarcoma that developed over 10 years. In the last two years, the patient had increasing pulmonary findings, including pulmonary nodules, ground glass opacities, and likely pulmonary metastatic calcifications. The objective of this report is to explore chondrosarcomas and their pattern of metastatic presentation, with the hope of improving recognition of the disease and streamlining treatment.
Case Report: Optical coherence tomography to guide PCI of iatrogenic injury of the circumflex artery after minimally invasive mitral valve repair
Authors: Dusan Borzanovic, Ivan Ilic, Dusan Nikolic, Ivan Stojanovic
Journal: Front Cardiovasc Med (2023)
Keywords: circumflex, complication, coronary, intervention, minimally invasive surgery, mitral valve, optical coherence tomography (oct), port-access
MeSH terms: Case Reports

We present a case of a 42-year-old man who suffered an iatrogenic injury to his left circumflex (Cx) coronary artery after mitral valve (MV) repair surgery. After the patient suffered from myocardial infarction without ST-segment elevation following minimally invasive MV surgery, we performed repeated coronary angiography and optical coherence tomography (OCT), which revealed severe coronary stenosis of the dominant Cx caused by intramural hematoma. In addition, we proceeded with percutaneous coronary intervention and stent implantation.
Large Immature Intracranial Teratoma in an Infant: A Case Report
Authors: Ajf Da Silva, Carolina Martins Lessa Barreto, Laís Lopes Melo Kummer, Beatriz Profírio Barros Correia, Rosilene Alves Teixeira Ewbank Udihara
Journal: Cureus (2024)
Keywords: acute hydrocephalus, immature teratoma, nervous central system, somatic malignancy, tumours
MeSH terms: Case Reports

Intracranial immature teratomas are rare, highly malignant, and fast-growing with a poor prognosis. We report the case of an infant with a large immature teratoma in the intracranial compartment. A two-month-old child presented to the emergency room with drowsiness and seizures. CT and cranial MRI showed hydrocephalus with a large expansive process in the right cerebral hemisphere extending to the infratentorial compartment, compressing the cerebellum and brainstem. It was then decided to partially resect the lesion. Postoperatively, due to the aggressiveness of the residual tumor, the patient developed complications (status epilepticus, hyperthermia, and electrolyte disorders) and died. Histopathological and immunohistochemical studies confirmed an immature teratoma. Teratomas are a subtype of germ cell tumors. Immature teratomas contain a population of cells that retain embryonic characteristics and tissues with more primitive components derived from all or some of the three germ layers (ectoderm, mesoderm, and endoderm). The prognosis of immature teratomas is associated with the degree of tumor differentiation, and those composed of undifferentiated embryonic tissues have a poor prognosis. This case report illustrates the rare and severe occurrence of a bulky immature cerebral teratoma in an infant. Unfortunately, despite undergoing a planned partial resection, the infant ended up having complications and died. Therefore, due to the size of the lesion in an infant, these cases are always complex when deciding on a surgical approach.
Idiosyncratic Drug-Induced Liver Injury in a Healthy Patient following PCSK9-Inhibitor Injection
Authors: B-O Stüben, D P Hoyer, S Radunz, F Saner, H Schmidt, H A Baba, J W Treckmann, L I Mazilescu
Journal: Case Reports Hepatol (2024)
MeSH terms: Case Reports

Background:
Acute liver injury is a life-threatening condition with disparate aetiology. Swift and adequate interdisciplinary treatment is essential to assure the best possible outcomes in these patients. Investigations to identify the cause of the condition and the implementation of quick and appropriate treatment can be lifesaving. Case Presentation. In October 2022, an otherwise healthy 66-year-old male presented at the University Hospital Essen with acute liver injury following an inclisiran injection for hypercholesterinaemia. Four weeks following admission, the patient fully recovered after initially receiving short-term cortisol therapy and open albumin (OPAL) dialysis, and the indices of liver, kidney, and coagulation function were normal at discharge.
Conclusion:
This is to our knowledge the first reported acute liver injury due to an inclisiran injection. Cortisol in combination with OPAL dialysis is an effective method for the treatment of acute liver injury caused by inclisiran injury, and in this case, it led to a near-complete reversal of the acute liver injury at the time of discharge.
Endodontic Treatment of a Maxillary First Molar With Two Separate Palatal Roots: A Case Report
Authors: He Liu, Ya Shen
Journal: Cureus (2024)
Keywords: cone- beam computed tomography, dental operating microscope, extra palatal root, maxillary first molar, root canal treatment
MeSH terms: Case Reports

Maxillary first molars exhibit considerable anatomical variation, with a single palatal root being the most common occurrence, while two palatal roots are notably less frequent. This case report details the endodontic treatment of a maxillary first molar with two separate palatal roots. It highlights the critical importance of recognizing these anatomical variations and their unique challenges during endodontic procedures. This report emphasizes the essential role of advanced diagnostic methods, such as cone-beam computed tomography, and the use of microscopic techniques in identifying and treating such cases.
Case report: Atypical lipomatous tumor of the thigh in a four-year-old girl
Authors: Itaru Ogawa, Michiyuki Hakozaki, Yoichi Kaneuchi, Takeo Suzuki, Takuya Nikaido, Shoki Yamada, Akihito Utsumi, Osamu Hasegawa, Hideki Sano, Yoshihiro Matsumoto
Journal: Front Oncol (2024)
Keywords: cdk4, mdm2, adipocytic tumor, atypical lipomatous tumor, child, cyclin-dependent kinase 4, lipoblastoma, murine double minute 2
MeSH terms: Case Reports

Atypical lipomatous tumors (ALTs) are locally aggressive adipocytic malignancies that frequently occur in middle-aged adults. We report the rare case of an ALT of the thigh that occurred in a 4-year-old girl. Since the tumor was initially diagnosed as a lipoblastoma by incisional biopsy, marginal resection was performed. Histopathological findings of the surgical specimen revealed the proliferation of mature and variously sized adipocytes, as well as ectopic ossification; these features differ from the typical findings of lipoblastoma. Immunohistochemical findings showed nuclear positivity for a murine double minute 2 (MDM2) and cyclin-dependent kinase 4 (CDK4) and negativity for pleomorphic adenoma gene 1 (PLAG1). Fluorescence in situ hybridization showed abnormal amplification of the MDM2 gene. The patient was thus finally diagnosed as having an ALT. No signs of local recurrence or metastasis were noted 1 year postoperatively. This case is instructive in the differential diagnosis of primary adipocytic tumors. Lipoblastomas are the most common adipocytic tumors in children, but if a tumor is located in the deep tissue or imaging findings are not typical, the possibility of ALT should be considered and immunohistochemistry for MDM2 and CDK4 should be added.
Case report: Deep sequencing and long-read genome sequencing refine prior genetic analyses in families with apparent gonadal mosaicism in PIK3CD-related activated PI3K delta syndrome
Authors: Halyn Orellana, Jia Yan, Alex Paul, Mari Tokita, Yan Ding, Rajarshi Ghosh, Katie L Lewis, Joie Davis, Leila Jamal, Colleen Jodarski, Morgan Similuk, Nermina Saucier, Zhanyang Zhu, Yihe Wang, Sitao Wu, Jason Ruggieri, Helen C Su, Gulbu Uzel, Shareef Nahas, Megan Cooper, Magdalena A Walkiewicz
Journal: Front Immunol (2024)
Keywords: pik3cd, gonadal mosaicism, gonosomal mosaicism, inborn errors of immunity, primary immunodeficiency diseases
MeSH terms: Class I Phosphatidylinositol 3-Kinases / genetics, High-Throughput Nucleotide Sequencing, Mosaicism, Pedigree, Case Reports, Adult, Child, Female, Genetic Predisposition to Disease, Gonads, Humans, Male, Mutation, Class I Phosphatidylinositol 3-Kinases, PIK3CD protein, human

Gonadal and gonosomal mosaicism describe phenomena in which a seemingly healthy individual carries a genetic variant in a subset of their gonadal tissue or gonadal and somatic tissue(s), respectively, with risk of transmitting the variant to their offspring. In families with one or more affected offspring, occurrence of the same apparently de novo variants can be an indicator of mosaicism in either parent. Panel-based deep sequencing has the capacity to detect low-level mosaic variants with coverage exceeding the typical limit of detection provided by current, readily available sequencing techniques. In this study, we report three families with more than one affected offspring with either confirmed or apparent parental gonosomal or gonadal mosaicism for PIK3CD pathogenic variants. Data from targeted deep sequencing was suggestive of low-level maternal gonosomal mosaicism in Family 1. Through this approach we did not detect pathogenic variants in PIK3CD from parental samples in Family 2 and Family 3. We conclude that mosaicism was likely confined to the maternal gonads in Family 2. Subsequent long-read genome sequencing in Family 3 showed that the paternal chromosome harbored the pathogenic variant in PIK3CD in both affected children, consistent with paternal gonadal mosaicism. Detection of parental mosaic variants enables accurate risk assessment, informs reproductive decision-making, and provides helpful context to inform clinical management in families with PIK3CD pathogenic variants.
TIAP: an observational procedure for assessing family relationships: a clinical case from the parenting evaluation context
Authors: Ada Cigala, Elena Venturelli, Laura Fruggeri
Journal: Front Psychol (2024)
Keywords: family assessment, family functioning, family relationships, observational methods, parenting evaluation, triadic interactions

TIAP is an observational procedure to assess family functioning detecting simultaneously the role of each participant and the interdependence of relational behaviors. In particular, the procedure requires family members to play according to different interactive configurations (parent1-children; parent2-children, all together, children and parents as separate units) and therefore different microtransitions from one configuration to another. As such, the procedure allows to study how family members coordinate to maintain stability, promote change, and encourage members to explore different interactive configurations within the family system. TIAP has been validated through several studies conducted with different non-clinical groups of families that have highlighted the salient aspects of family functioning, and significant correlations with variables external to the family system, such as children's social-emotional competence in the educational context. This paper focuses on the use of TIAP in the contexts of assessing parental competence. Specifically, the article aims to describe, through the reference to a clinical case, the results emerged from a study conducted with 33 families involved in a parenting assessment process. The study is part of a broader collaborative project between the Child and Adolescent Neuropsychiatry Clinic of the Italian National Health Service in Parma, the University of Parma, and the Bologna Family Therapy Center. TIAP was administered to all the families involved as a complement to other tools routinely used for all cases handled by the professionals of the clinic. The coding system includes different indices. Some analyze the interactive family modes: family coordination (mutual attention and responsiveness), the responses to potentials for change (disregard, absorption, amplification), and intra-familiar exploration. Other indices concern the quality of the interactions: the relational triadic dynamic of microtransition (detaching-entrusting-welcoming-joining) and the consistency/inconsistency of the communication channels. The results highlighted how TIAP makes it possible to identify the specific interactive modalities of the different members and their interdependence and reciprocity, favoring the identification of both family weaknesses and family resources, including the children's contribution. Furthermore, the general data trend showed that TIAP indices detect some important prognostic elements capable of guiding the court's decisions.
Case Report: Halting terminal osseous overgrowth post tibia amputation in children: a report of three cases
Authors: Chee-Chun Pon, Ting-Jie Ong, Ahmad Fazly Abd Rasid, Abdul Halim Abd Rashid, Kamal Jamil
Journal: Front Surg (2024)
Keywords: fibula transfer, osseous overgrowth, osteocartilaginous transfer, pediatric amputation, trans-diaphyseal amputation
MeSH terms: Case Reports

Terminal osseous overgrowth is a common complication after trans-diaphyseal amputation in children, leading to pain, soft tissue problems, and recurrent surgical procedures. We report three different cases with post-amputation issues of osseous overgrowth, ulceration, and deformity over the amputation site. The first case involves a 9-year-old boy with a right leg congenital amputation secondary to amniotic band syndrome. The right below-knee stump later experienced recurrent episodes of osseous overgrowth, leading to ulceration. After the prominent tibia was resected and capped with the ipsilateral proximal fibula, a positive outcome was achieved with no more recurrent overgrowth over the right leg stump. The second case involves a 9-year-old girl born with an amniotic constriction band over both legs. Her left leg remained functional after a circumferential Z-plasty, but the right leg was a congenital below-knee amputation. Multiple refashioning surgeries were performed on the right leg due to osseous overgrowth but the patient continued to experience recurrent overgrowth causing pain and difficulty fitting into a prosthesis. We performed osteocartilaginous transfer of the proximal part of the ipsilateral fibula to the right tibial end, successfully preventing the overgrowth of the tibia without any complications. The third case involves an 11-year-old boy with a history of meningococcal septicemia who underwent a right below-knee amputation and left ankle disarticulation due to complications of septic emboli. He experienced a prominent right distal tibia stump, which later developed into valgus deformity as a result of the previous insult to the proximal tibial growth plate. We performed a corrective osteotomy over the proximal right tibia and capped the entire tibia with the ipsilateral fibula as an intramedullary splint for the osteotomy site. Post-operatively, we achieved satisfactory deformity correction and successfully halted the recurrent overgrowth over the right tibia stump. The method of ipsilateral fibula capping is safe and effective in managing the osseous overgrowth complications in trans-diaphyseal amputations among children. Therefore, it is a reasonable option during primary below-knee amputations in children compared to multiple refashioning surgeries.
Evidence-based early rehabilitation for children with cerebral palsy: co-development of a multifaceted knowledge translation strategy for rehabilitation professionals
Authors: Jessica H Hanson, Annette Majnemer, Filomena Pietrangelo, Leigh Dickson, Keiko Shikako, Noémi Dahan-Oliel, Emma Steven, Georgia Iliopoulos, Tatiana Ogourtsova
Journal: Front Rehabil Sci (2024)
Keywords: cerebral palsy, early interventions, evidence-based practice, knowledge translation, rehabilitation

Background:
Cerebral palsy (CP) is the most common childhood physical disability. Early and evidence-based rehabilitation is essential for improving functional outcomes in children with CP. However, rehabilitation professionals face barriers to adopting evidence-based practices (EBP)s. The objective of this project is to develop a knowledge translation (KT) strategy to support CP-EBP among pediatric rehabilitation professionals.
Methods:
We follow an integrated KT approach by collaborating with clinician- and patient-partners. Partners engaged in co-design through team meetings and content review via email. The KT strategy comprises two components: (1) An electronic (e)-KT toolkit was created from summarized evidence extracted from randomized clinical trials on early rehabilitation for children with CP, and (2) a multifaceted online KT training program developed with guidance from a scoping review exploring effective KT strategies.
Results:
The e-KT toolkit summarizes twenty-two early interventions for children with or at risk for CP aged 0-5 years. Each module features an introduction, resources, parent/family section, and clinician information, including outcomes, intervention effectiveness, and evidence level. The KT training program includes three 10-15 min video-based training modules, text summaries, quizzes, and case studies. Site champions, identified as qualified rehabilitation professionals, were onboarded to support the site implementation of the training program. A champion-training booklet and 1-hour session were designed to equip them with the necessary knowledge/resources.
Conclusion:
The tailored, multifaceted, and co-designed KT strategy aims to be implemented in pediatric rehabilitation sites to support professional's uptake of CP-EBPs. Lessons learned from its development, including the co-development process and multifaceted nature, hold potential for broader applications in rehabilitation.
The Management of Plaque Psoriasis With Halobetasol and Tacrolimus Combination Therapy Versus Calcipotriol Monotherapy: A Case Report
Authors: Mohammed Z Sarwar, Nawaid H Khan, MIrza Masroor Ali Beg, Niloufer Mariam Javeed Ankolvi, Kudaibergen Osmonaliev
Journal: Cureus (2024)
Keywords: calcipotriol, combination therapy, halobetasol, plaque psoriasis, tacrolimus
MeSH terms: Case Reports

Psoriasis is an inflammatory, immune-mediated, persistent, and multifactorial skin disease. Chronic plaque psoriasis is the most common clinical form of psoriasis. Pro-inflammatory cytokines play a primary role in the pathogenicity of this disease. Psoriasis is mainly diagnosed using clinical and dermoscopic examination of the cutaneous lesions, and skin biopsy is used in atypical cases. Psoriasis has no definitive cure. However, several topical agents are effective in managing mild and chronic cases. Combination therapy with these topical agents is more effective than with a single agent. We report a case of chronic plaque psoriasis in a 33-year-old man presenting with an itchy circumscribed, erythematous, scaly plaque, and a single cutaneous lesion covering >50% of both forearms and a few lesions on the back. The right forearm was treated with calcipotriol alone, whereas the left forearm was treated with a tacrolimus and halobetasol combination with emollients to be applied twice a day on both arms. We observed treatment responses for seven days with 24-hour intervals after each application. Combination therapy yielded a better response. In conclusion, topical treatment with a combination of halobetasol and tacrolimus is more effective compared to that with a single agent while being cost-effective and causing minimal adverse effects.