OpenMed/multicare-articles huggingface dataset:
Kleefstra Syndrome-Dental Manifestations and Needs: A Case Report with a Literature Review
Authors: Victoria Karlak, Jakub Jankowski, Julia Kolasińska, Kacper Nijakowski
Journal: Case Rep Dent (2023)
MeSH terms: Case Reports

Kleefstra syndrome (KS) is a rare genetic disorder (prevalence < 1/1 000 000) characterised by autistic spectrum disorder (ASD), childhood hypotonia, and seizures. A typical facial appearance includes microcephaly, arched eyebrows, synophrism, hypertelorism, a short nose, midface hypoplasia, prognathism, and tongue protrusion. This case report presents a 19-year-old female with KS from a dentist's perspective. The patient demonstrates limited mouth opening with a slight deviation of the mandible on the left side. The mandibular prognathism and anterior open bite are visible. A generalised inflammatory gingival enlargement is most likely a response to local irritants like plaque and calculus but is enhanced by the patient's mouth breathing habit. Also, the tongue is unusually large-macroglossia. Dental anomalies were diagnosed by digital panoramic radiograph, including dilaceration of the maxillary left second premolar and taurodontism. The patient was qualified to be treated under general anaesthesia with multiple extractions, restorations, hygienisation procedures, and tooth remineralisation. This individual should also be considered for orthodontic treatment and an eventual tongue reduction procedure. In the case of KS, multidisciplinary cooperation as well as frequent dental check-ups with fluoride prophylaxis are recommended. Unfortunately, dental treatment is still not an integral part of taking care of disabled children and youth with rare diseases.
Case report: Severe sinus tachycardia as a leading manifestation of systemic lupus erythematosus flare
Authors: Anas A Ashour, Shafik Mansour, Mohamad Talal Basrak, Mohammad Altermanini, Bisher Sawaf, Mohamed A Atta, Mhd Baraa Habib
Journal: Front Med (Lausanne) (2023)
Keywords: sle, arrhythmia, case report, flare, systemic lupus erythematosus, tachycardia
MeSH terms: Case Reports

Systemic lupus erythematosus (SLE) is known to have various cardiac manifestations, including arrhythmias and tachycardia. However, it is rare to encounter severe sinus tachycardia as a presenting feature in patients with SLE. Herein, we present a case of a 32-year-old Filipino female with a history of recurrent hospital admissions due to palpitations and uncontrolled tachycardia. Despite trying various symptomatic treatments, her symptoms remained persistent. Ultimately, the patient was diagnosed with SLE during her hospital stay. Eventually, her symptoms improved after initiating steroids. In conclusion, severe sinus tachycardia could be an unusual presentation of SLE that physicians should consider.
Artificial intelligence planning and 3D printing augmented modules in the treatment of a complicated hip joint revision: a case report
Authors: Yikai Liu, Zian Zhang, Wenzhe Wang, Chaoqun Yu, Chang Liu, Zhenchao Huang, Kaige Xu, Haining Zhang
Journal: Front Surg (2023)
Keywords: artificial intelligence planning, osseous defectdefects, three-dimensional printing, total hip arthroplasty, total hip revision
MeSH terms: Case Reports

Total hip revision with osseous defects can be very difficult. Artificial intelligence offers preoperative planning, real-time measurement, and intraoperative judgment, which can guide prothesis placement more accurately. Three-dimensional printed metel augment modules which are made according to the individualized osseous anatomy, can fit the osseous defects well and provide mechanical support. In this case, we used AI to plan the size and position of the acetabular cup and 3D-printed augmented modules in a complicated hip revision with an acetabular bone defects, which achieved stable fixation and relieved hip pain postoperatively.
Persistent primary hyperparathyroidism caused by an ectopic adenoma in the piriform sinus: case report and review of the literature
Authors: Chiara Sardella, Veronica Seccia, Massimo Giambalvo, Laura Pierotti, Elisa Dinoi, Simone Della Valentina, Elena Pardi, Gabriele Materazzi, Iacopo Dallan, Stefano Berrettini, Filomena Cetani
Journal: Front Oncol (2024)
Keywords: ectopic parathyroid adenoma, parathyroid glands, persistent primary hyperparathyroidism, pyriform sinus, transoral robotic parathyroidectomy
MeSH terms: Case Reports

Introduction:
Primary hyperparathyroidism (PHPT) is a common endocrine disorder in which surgery is the only curative therapy. Ectopic parathyroid adenoma in the pyriform sinus resulting from a pathological migration of parathyroid glands along the embryological development is a rare cause of PHPT. We describe a case of a persistent primary hyperparathyroidism after previous unsuccessful surgery due to an ectopic parathyroid adenoma within the pyriform sinus and we review the previous reports on this issue.
Case presentation:
A 62-year-old woman was referred for persistent hypercalcemia following unsuccessful cervical exploratory surgery. Cervical ultrasound did not detect any parathyroid abnormalities. At variance, 99mTc-sestamibi SPECT/CT and CT scan of the neck identified a parathyroid adenoma in the left pyriform sinus, which was confirmed by endoscopy. The patient was successfully treated by transoral robotic resection and the pathology confirmed a parathyroid adenoma.
Conclusions:
The ectopic parathyroid adenoma in the pyriform sinus is so uncommon that only fourteen cases have been reported. However, the pyriform sinus should be considered a possible location of ectopic parathyroid glands, especially in the setting of persistent or recurrent PHPT after parathyroid surgery.
Risk Management During the Transition From Hospital to Home: A Multiple Case Study Documenting the Experience of Patients Living With a Major Neurocognitive Disorder, Their Caregivers, and Healthcare Professionals
Authors: Véronique Provencher, Chantal Viscogliosi, Julie Lacerte, Monia D'Amours, Didier Mailhot-Bisson, Lise Gagnon, Guy Lacombe
Journal: J Patient Exp (2024)
Keywords: healthcare transitions, major neurocognitive disorder, patient experience, risk management

Understanding the risks in the months following hospital discharge is crucial for healthcare professionals to ensure the need for assistance is met. However, this may be challenging in the case of patients living with a major neurocognitive disorder (PLMNCD). Thus, it is important to incorporate patients' and caregivers' experiences of the transition from hospital to home in the risk assessment. This multiple case study comprised 7 PLMNCD, their caregivers, and occupational therapists. Fifty-four interviews, conducted just before, as well as 3 weeks and 3 to 6 months after hospital discharge, were qualitatively analyzed. Results revealed that risk management during the hospital-to-home transition is a dynamic process aimed at establishing a satisfactory routine while avoiding adverse events. This risk management process, which identifies challenges over time and between stakeholders, involves (a) determining the seriousness and acceptability of risks, (b) reflecting on ways to manage risks, and (c) taking steps to manage risks. This knowledge will help to provide more appropriate care and services that strike a balance between safety and autonomy.
"Surthriving" Hand Rehabilitation: Proposing Interventions to Support Novice Occupational Therapists Working in Underserved Contexts
Authors: Kirsty van Stormbroek, Tania van der Merwe, Lisa O'Brien, Hellen Myezwa
Journal: Occup Ther Int (2023)
MeSH terms: Hand Injuries, Occupational Therapy, Humans, Learning, Occupational Therapists, Qualitative Research

Hand rehabilitation delivered to underserved South African communities is often the responsibility of novice or generalist occupational therapists. Novice therapists typically work with restricted supervision, support, and resources. Little is known about how these therapists should be supported in order to strengthen the services that they deliver. This study is aimed at understanding how novice occupational therapists in their first year of practice describe their experience of delivering hand rehabilitation in order to identify their support and development needs and propose interventions to address these needs. A qualitative instrumental case study design was used. Data were collected from novice occupational therapists (n = 9) who participated in an online community of practice. Data collection techniques included photoelicitation, facilitated reflection activities, and case discussion. Reflexive thematic analysis was employed. Trustworthiness strategies included reflexive writing, prolonged engagement, data source triangulation, member checking, and peer audit. Analysis generated three themes: (1) "submerged: I had to drown a little" captured participants' experience of being saturated by contextual features including poverty and poor basic management of hand injuries. (2) "Starting somewhere" captured participants' journey of treating patients with hand injuries. They transitioned from an initial sense of having "no idea" to developing "some idea"; their clinical reasoning was challenged when working with no diagnosis, unfamiliar presentations, or when contextual features rendered traditional approaches to therapy inappropriate. Finally, (3) "dynamics of 'surthrival'" captured elements that contributed to participants either thriving or merely surviving their hand rehabilitation experience. The proposed strategies identified in this study to address the support and development needs of novice therapists include interventions focused on systems and health services; learning opportunities to support competency and physical resources; and emotional support. Beyond application to the South African context, these strategies may be considered for supporting generalist or novice therapists delivering hand rehabilitation in other low- to middle-income countries.
Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
Authors: Xiaohui Fu, Shuli Chen, Xiao Huang, Qinghua Lu, Yunfei Cui, Weinan Lin, Qin Yang
Journal: Front Endocrinol (Lausanne) (2024)
Keywords: mtx2 gene, exon skipping, mandibular hypoplasia (mad) syndrome, progeria syndrome, splice-site mutation
MeSH terms: Lipodystrophy / genetics, Progeria / complications, Progeria / diagnosis, Progeria / genetics, Review, Case Reports, Female, Growth Disorders / complications, Humans, Mutation, Rare Diseases, Syndrome

Background:
Mandibuloacral dysplasia (MAD) syndrome is a rare genetic disease. Several progeroid syndromes including mandibuloacral dysplasia type A (MADA), mandibuloacral dysplasia type B(MADB), Hutchinson-Gilford progeria (HGPS) and mandibular hypoplasia, deafness, and lipodystrophy syndrome (MDPL) have been reported previously. A novel MAD progeroid syndrome (MADaM) has recently been reported. So far, 7 cases of MADaM diagnosed with molecular diagnostics have been reported in worldwide. In the Chinese population, cases of MAD associated with the MTX2 variant have never been reported.
Methods:
The clinical symptoms and the genetic analysis were identified and investigated in patients presented with the disease. In addition, we analyzed and compared 7 MADaM cases reported worldwide and summarized the progeroid syndromes reported in the Chinese population to date.
Results:
The present study reports a case of a novel homozygous mutation c.378 + 1G > A in the MTX2 gene, which has not been previously reported in the literature. Patients present with early onset and severe symptoms and soon after birth are found to have growth retardation. In addition to the progeroid features, skeletal deformities, generalized lipodystrophy reported previously, and other multisystem involvement, e.g. hepatosplenic, renal, and cardiovascular system, this case was also reported to have combined hypogammaglobulinemia. She has since been admitted to the hospital several times for infections. Among 22 previously reported progeroid syndromes, 16/22 were MADA or HGPS caused by LMNA gene mutations, and the homozygous c.1579C > T (p.R527C) mutation may be a hot spot mutation for MAD in the Chinese population. MAD and HGPS mostly present in infancy with skin abnormalities or alopecia, MDPL mostly presents in school age with growth retardation as the first manifestation, and is often combined with an endocrine metabolism disorder after several decades.
Conclusion:
This is the first case of MAD syndrome caused by mutations in MTX2 gene reported in the Chinese population. MTX2 gene c.378 + 1G > A homozygous mutation has not been previously reported and the report of this patient expands the spectrum of MTX2 mutations. In addition, we summarized the genotypes and clinical characteristics of patients with progeroid syndromes in China.
Case report: Insulinoma masquerades as epilepsy - quantitative EEG analysis
Authors: Natalia Kostolanska, Petr Klimes, Jitka Kocvarova, Hana Pikulova, Ondrej Strycek, Milan Brazdil, Irena Dolezalova
Journal: Front Neurol (2024)
Keywords: eeg postprocessing, acute symptomatic seizures, epilepsy, hypoglycemia, insulinoma
MeSH terms: Case Reports

Insulinomas are rare gastrointestinal tumors with an incidence of 1-3 per million inhabitants annually. These tumors result in excessive insulin production, culminating in hypoglycemia. Such hypoglycemia triggers various central nervous system (CNS) manifestations, including headache, confusion, abnormal behavior, and epileptic seizures, which can lead to misdiagnosis as epilepsy. This case report documents a 46-year-old male who presented seizure-like episodes. Episodes occurred mainly during the night, lasting several minutes to hours. Initial seizures were characterized by bizarre behavior and altered responsiveness. Over time, seizure frequency, complexity, and severity escalated. We managed to record two episodes during long-term EEG and report, as the first ones, the detailed quantitative EEG analysis of these hypoglycemia-related events. EEG changes preceded the development of clear-cut pathological motor activity in tens of minutes and were present in all investigated frequency bands. The development of profound motor activity was associated with other increases in EEG power spectra in all frequencies except for delta. The most pronounced changes were found over the left temporal region, which can be the most susceptible to hypoglycemia. In our patient, the seizure-like episodes completely disappeared after the insulinoma removal, which demonstrates their relationship to hypoglycemia.
Atypical presentations of UTUC: a case report of three patients
Authors: Linfa Guo, Xiaojie Bai, Kuerban Tuoheti, Xiaolong Wang, Tongzu Liu
Journal: Front Oncol (2024)
Keywords: case report, fever, misdiagnosis, upper tract urothelial carcinoma, white blood cell count
MeSH terms: Case Reports

Background:
Upper tract urothelial carcinoma (UTUC) is a rare clinical condition primarily characterized by symptoms such as gross or microscopic hematuria, flank pain, and renal colic. Although computed tomography urography (CTU) is currently the most accurate imaging modality for diagnosis, atypical presentations and physical examination findings can sometimes obscure lesions, posing diagnostic challenges.
Case presentation:
In this report, three patients exhibited atypical symptoms, sharing a common complaint of flank pain. Notably, the first patient, who had recently undergone laparoscopic right duplex nephrectomy, presented with microscopic hematuria, whereas the other two did not show any gross or microscopic hematuria. Computed tomography urography revealed hydronephrosis and infection without significant renal pelvic space-occupying lesions, with persistently elevated white blood cell (WBC) counts, but no fever. These atypical clinical presentations confounded clinicians, delaying the diagnosis of upper tract urothelial carcinoma until postoperative pathological examination for the first two patients and resulting in advanced-stage diagnosis for the third patient. Postoperative pathology confirmed high-grade invasive upper tract urothelial carcinoma in all three patients.
Conclusion:
Upper tract urothelial carcinoma can manifest atypically without hematuria and may be challenging to visualize on computed tomography urography, potentially leading to misdiagnosis. Therefore, clinicians should maintain a high level of suspicion for malignant tumors when patients exhibit hydronephrosis, infection on imaging, and persistently elevated white blood cell counts without fever, even in the absence of typical signs of upper urothelial carcinoma on computed tomography urography.
A Complete Response to Pembrolizumab in Malignant Peritoneal Mesothelioma: A Case Report
Authors: Maria Bairos Menezes, Rita Pedroso de Lima, Inês Dunões, Mariana Inácio, Rui Dinis
Journal: Cureus (2024)
Keywords: clinical complete response, immune checkpoint inhibitors (icis), immunotherapy, interdisciplinary cancer treatment, malignant peritoneal mesothelioma, pembrolizumab, treatment
MeSH terms: Case Reports

Malignant peritoneal mesothelioma (MPeM) is a rare cancer of the peritoneum with a poor prognosis and nonspecific clinical course. We discuss a case of MPeM in a 59-year-old male who presented with abdominal pain and distension, without any known previous asbestos exposure. The diagnosis was made after a second biopsy finally confirmed epithelioid MPeM in an advanced stage with pleural effusion. The patient underwent six cycles of chemotherapy with cisplatin and pemetrexed, experienced disease progression, and was then started on pembrolizumab as a second-line treatment. The patient achieved a complete response after two years of treatment with pembrolizumab and has been disease-free for almost four years with an Eastern Cooperative Oncology Group (ECOG) performance status of 0. Despite the lack of evidence to support the treatment with immunotherapy for MPeM, our case report encourages its use, highlighting its ability to enable a complete response with pembrolizumab with an excellent quality of life.
Case report: Short-term efficacy and changes in 18F-FDG-PET with acute multi-target stimulation in spinocerebellar ataxia type 3 (SCA3/MJD)
Authors: Zhiqiang Cui, Yina Lan, Yan Chang, Xinyun Liu, Jian Wang, Xin Lou, Ruimin Wang
Journal: Front Neurol (2023)
Keywords: 18f-fluoro-2-deoxy-d-glucose positron emission computed tomography (18f-fdg-pet), machado-joseph disease (mjd), deep brain stimulation (dbs), dentate nucleus (dn), dopamine transporter (dat) pet, globus pallidus internus (gpi), spinocerebellar ataxia type 3 (sca3)
MeSH terms: Case Reports

Objective:
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is a rare neurodegenerative disease for which there is no specific treatment. Very few cases have been treated with single-target deep brain stimulation (DBS), and the results were not satisfactory. We applied multi-target DBS to an SCA3/MJD patient and performed positron emission computed tomography (PET) before and after DBS to explore the short-term clinical therapeutic effect.
Materials and methods:
A 26-year-old right-hand-dominant female with a family history of SCA3/MJD suffered from cerebellar ataxia and dystonia. Genetic testing indicated an expanded CAG trinucleotide repeat in the ATXN3 gene and a diagnosis of SCA3/MJD. Conservative treatment had no obvious effect; therefore, leads were implanted in the bilateral dentate nucleus (DN) and the globus pallidus internus (GPi) and connected to an external stimulation device. The treatment effect was evaluated in a double-blind, randomized protocol in five phases (over a total of 15 days): no stimulation, GPi, DN, or sham stimulation, and combined GPi and DN stimulation. 18F-fluoro-2-deoxy-d-glucose and dopamine transporter PET, Scale for the Assessment and Rating of Ataxia, Fahn-Tolosa-Marin Clinical Rating Scale for Tremor (FTM), Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS), and SF-36 quality of life scores were compared before and after DBS.
Results:
The Total Scale for the Assessment and Rating of Ataxia scores improved by ~42% (from 24 to 14). The BFMDRS movement scores improved by ~30% (from 40.5 to 28.5). The BFMDRS disability scores improved by ~12.5% (from 16 to 14). Daily living activities were not noticeably improved. Compared with the findings in pre-DBS imaging, 18F-fluoro-2-deoxy-d-glucose uptake increased in the cerebellum, while according to dopamine transporter imaging, there were no significant differences in the bilateral caudate nucleus and putamen.
Conclusion:
Multi-target acute stimulation (DN DBS and GPi DBS) in SCA3/MJD can mildly improve cerebellar ataxia and dystonia and increase cerebellar metabolism.
Closed Catheter Drainage for Klebsiella pneumoniae Empyema Necessitans
Authors: Mohammed Ishaq, Abdullah Bahadi
Journal: Case Rep Surg (2023)
MeSH terms: Case Reports

Empyema necessitans is a rare complication of pneumonia, which can be seen more frequently with tuberculosis (TB). In this case report, we include a 47-year-old female with empyema necessitans; closed drainage has been sought as a sole treatment based on the clinical presentation and radiological findings of an empyema necessitans. Scarce evidence with regard to adult empyema necessitans with Klebsiella was found in the literature where adult cases were managed exclusively using combination of intravenous (IV) antibiotic and closed drainage, reporting such case can help guiding management for similar presentation.
Recurrent cholangitis and bacteraemia due to Edwardsiella tarda: a case report
Authors: Makoto Hasegawa, Yohei Sanmoto
Journal: Oxf Med Case Reports (2024)
Keywords: edwardsiella tarda, bacteraemia, carriage, cholangitis, colonization
MeSH terms: Case Reports

Edwardsiella tarda is typically isolated from aquatic environments. It rarely causes infections in humans. Edwardsiella tarda infections in humans result from the consumption of infected or contaminated food. Here, we present a case of recurrent cholangitis and bacteraemia associated with E. tarda. An 82-year-old man with no history of seafood inoculation was admitted to our hospital because of difficulty in moving his body. The patient was diagnosed with cholangitis, and the blood culture revealed the presence of E. tarda. The patient underwent bile duct stenting and received antibiotic therapy for 14 days. Forty-four days after discharge, cholangitis recurred, and blood culture again showed the presence of E. tarda. The patient underwent bile duct stenting and antibiotic therapy for 11 days. No cholangitis or bacteraemia associated with E. tarda was observed in the following 3 years. Our case strongly suggests that colonization with E. tarda results in recurrent cholangitis and bacteraemia.
Cariprazine maintenance treatment during pregnancy - a case report
Authors: Róbert Herold, Tamás Tényi, Márton Herold, Tünde Tóth
Journal: Front Psychiatry (2024)
Keywords: antipsychotics, cariprazine, case report, pregnancy, schizophrenia
MeSH terms: Case Reports

Data on reproductive safety of recently approved newer antipsychotics are limited. Here, we report a case vignette of a patient with schizophrenia treated with cariprazine during pregnancy. The patient became pregnant unexpectedly while taking medication. As a result of shared decision-making, the patient and her psychiatrist decided to continue the treatment, which proved to be protective against relapse and had no adverse effect either on the course of pregnancy or on the health of the newborn. Cariprazine maintenance treatment during pregnancy was found to be safe in our case.