OpenMed/multicare-articles huggingface dataset:
Paediatric Wolfram syndrome Type 1: should gonadal dysfunction be part of the diagnostic criteria?
Authors: Giulio Frontino, Raffaella Di Tonno, Marianna Rita Stancampiano, Francesca Arrigoni, Andrea Rigamonti, Elisa Morotti, Daniele Canarutto, Riccardo Bonfanti, Gianni Russo, Graziano Barera, Lorenzo Piemonti
Journal: Front Endocrinol (Lausanne) (2023)
Keywords: wolfram syndrome, wolfram syndrome 1 (wfs1), gonadal dysfunction, hypergonadotropic hypogonadism, hypogonadism, monogenic diabetes
MeSH terms: Diabetes Mellitus, Type 1, Gonadal Disorders, Wolfram Syndrome / complications, Wolfram Syndrome / diagnosis, Adult, Child, Female, Gonads, Humans, Male, Quality of Life

Aims:
Wolfram Syndrome Spectrum Disorder (WFS1-SD), in its "classic" form, is a rare autosomal recessive disease with poor prognosis and wide phenotypic spectrum. Insulin dependent diabetes mellitus (DM), optic atrophy (OA) diabetes insipidus (DI) and sensorineural deafness (D) are the main features of WFS1-SD. Gonadal dysfunction (GD) has been described mainly in adults with variable prevalence and referred to as a minor clinical feature. This is the first case series investigating gonadal function in a small cohort of paediatric patients affected by WFS1-SD.
Methods:
Gonadal function was investigated in eight patients (3 male and 5 female) between 3 and 16 years of age. Seven patients have been diagnosed with classic WFS1-SD and one with non-classic WFS1-SD. Gonadotropin and sex hormone levels were monitored, as well as markers of gonadal reserve (inhibin-B and anti-Mullerian hormone). Pubertal progression was assessed according to Tanner staging.
Results:
Primary hypogonadism was diagnosed in 50% of patients (n=4), more specifically 67% (n=2) of males and 40% of females (n=2). Pubertal delay was observed in one female patient. These data confirm that gonadal dysfunction may be a frequent and underdiagnosed clinical feature in WFS1-SD.
Conclusions:
GD may represent a frequent and earlier than previously described feature in WFS1-SD with repercussions on morbidity and quality of life. Consequently, we suggest that GD should be included amongst clinical diagnostic criteria for WFS1-SD, as has already been proposed for urinary dysfunction. Considering the heterogeneous and elusive presentation of WFS1-SD, this clinical feature may assist in an earlier diagnosis and timely follow-up and care of treatable associated diseases (i.e. insulin and sex hormone replacement) in these young patients.
Case report: Multiple epstein-barr virus-associated smooth muscle tumours in a child with IL-2-inducible T-cell kinase mutation of undetermined clinical significance
Authors: Qiongli Wen, Jing Ning, Zhiqun Mao, Xiangdang Long, Xiangling He, Zhihong Chen, Qiuyi Di, Qiaorong Li, Yu Zhuo, Gang Zhong
Journal: Front Pediatr (2023)
Keywords: il-2-inducible t-cell kinase, epstein-barr virus, gene, immunodeficiency, mutation, smooth muscle tumour
MeSH terms: Case Reports

Background:
EBV-associated smooth muscle tumours (EBV-SMTs) are uncommon neoplasms associated with immunodeficiency. The pathogenesis of EBV-SMTs is poorly understood. IL-2-inducible T-cell kinase (ITK), a member of the Tec family of tyrosine kinases, is the predominant Tec kinase in T cells. Researchers have shown that ITK is involved in the pathogenesis of autoimmune diseases and carcinogenesis, and the loss of ITK function due to mutation in patients can lead to EBV-associated lymphoproliferation. Multiple Epstein-Barr virus-associated smooth muscle tumours with ITK mutation have rarely been reported.
Case presentation:
A 6-year-old female child was admitted to the hospital due to recurrent bilateral hip pain for more than one year. Tumours were found in the lung, near the intracranial cavernous sinus and in the lumbar spine and paraspinal soft tissues by CT and MRI. The patient underwent vertebral tumour biopsy, which suggested low-grade myogenic or inflammatory myofibroblastic tumours, so the patient was given three courses of chemotherapy without symptom relief or mass reduction. The patient underwent lumbar mass resection, the pathological results indicated EBV-SMT, and a novel germline homozygous deletion mutation in the ITK gene was detected. The deletion mutation in this gene has not yet been reported and the clinical significance of the pathogenicity of the variant is unknown. Intrabronchial mass resection was performed under fibre bronchoscopy, and the pathological results indicated EBV-SMT. No significant recurrence or progression was observed after more than 2 years of follow-up.
Conclusions:
We present a rare case of multiple EBV-SMTs combined with ITK gene mutation. Some of the tumours were removed, and some were treated conservatively. There was no significant recurrence or progression after more than two years of follow-up. The optimal treatment regimen still needs to be further explored, and the relationship between ITK gene mutation at this locus and immunodeficiency and EBV-SMT warrants further investigation.
Dermoscopic features of a black hairy tongue in 2 Japanese patients
Authors: Ken Kobayashi, Yasuhiko Takei, Mizuki Sawada, Sumiko Ishizaki, Haruo Ito, Masaru Tanaka
Journal: Dermatol Res Pract (2010)
MeSH terms: Case Reports

Dermoscopic features of a black hairy tongue have never been reported. Dermoscopy might be useful in speculating pathologic features of oral lesions. The objective was to identify additional dermoscopic criteria. Two Japanese patients who were clinically given a diagnosis of "black hairy tongue" were evaluated for dermoscopic features. We have shown characteristic dermoscopic features of brownish hair-like elongation of filiform papillae with whitish lingual papillae. Dermoscopic examination seemed useful as an adjunct to the diagnosis of this benign disorder of the tongue, demonstrating exact changes in shape and color of filiform papillae. It might also be helpful in more objective observation of the therapeutic efficacy.
Case report: Disease phenotype associated with simultaneous biallelic mutations in ABCA4 and USH2A due to uniparental disomy of chromosome 1
Authors: R Villafuerte-De la Cruz, O F Chacon-Camacho, A C Rodriguez-Martinez, N Xilotl-De Jesus, R Arce-Gonzalez, C Rodriguez-De la Torre, J E Valdez-Garcia, A Rojas-Martinez, J C Zenteno
Journal: Front Genet (2022)
Keywords: abca4 gene, stargardt disease, ush2a gene, usher syndrome, retinal dystrophy, uniparental disomy
MeSH terms: Case Reports

Inherited retinal diseases (IRDs) represent a spectrum of clinically and genetically heterogeneous disorders. Our study describes an IRD patient carrying ABCA4 and USH2A pathogenic biallelic mutations as a result of paternal uniparental disomy (UPD) in chromosome 1. The proband is a 9-year-old girl born from non-consanguineous parents. Both parents were asymptomatic and denied family history of ocular disease. Clinical history and ophthalmologic examination of the proband were consistent with Stargardt disease. Whispered voice testing disclosed moderate hearing loss. Next-generation sequencing and Sanger sequencing identified pathogenic variants in ABCA4 (c.4926C>G and c.5044_5058del) and USH2A (c.2276G>T). All variants were present homozygously in DNA from the proband and heterozygously in DNA from the father. No variants were found in maternal DNA. Further analysis of single nucleotide polymorphisms confirmed paternal UPD of chromosome 1. This is the first known patient with confirmed UPD for two recessively mutated IRD genes. Our study expands on the genetic heterogeneity of IRDs and highlights the importance of UPD as a mechanism of autosomal recessive disease in non-consanguineous parents. Moreover, a long-term follow-up is essential for the identification of retinal features that may develop as a result of USH2A-related conditions.
Case Report: A Case Series Linked to Vitamin D Excess in Pet Food: Cholecalciferol (Vitamin D3) Toxicity Observed in Five Cats
Authors: Carla G Vecchiato, Costanza Delsante, Giorgia Galiazzo, Simone Perfetti, Carlo Pinna, Maria C Sabetti, Laura Zagnoli, Giacomo Biagi, Marco Pietra
Journal: Front Vet Sci (2021)
Keywords: case report, cat food, cholecalciferol intoxication, feline nutrition, hypercalcemia, vitamin d3
MeSH terms: Case Reports

Cholecalciferol (vitamin D3) toxicity caused by defective pet food formulations is a rare occurrence described in cats. Nevertheless, it poses a health risk, even though the affected pet food is not fed as the sole diet. Excessive vitamin D3 intake might cause hypercalcemia and soft tissue mineralization, which are findings that prompt clinicians to further investigate the feasible etiology. This case series describes the effects of an extremely high vitamin D3 intake in five young cats caused by the consumption of a fish-based complementary kitten pet food (KPF) that was fed to all of the cats as part of their diet (cases 1, 2, and 3) or eaten exclusively (cases 4 and 5). Due to the different amounts of vitamin D3 consumed, diagnostic examinations showed different degrees of severity of hypercalcemia and azotemia as well as different radiographic findings in cases where diagnostic imaging was performed (cases 2, 4, and 5). All of the cats were treated by withdrawing the affected food and providing medical management of the hypercalcemia. All of the cats recovered, except for two persistent azotemic cats, which developed chronic kidney disease. The goal of this case series is, therefore, to describe the occurrence and resolution of an acute vitamin D3 toxicity due to the highest amount of dietary vitamin D3 intake that has ever been described in domestic cats.
Innovative gamification and outreach tools to raise awareness about antimicrobial resistance
Authors: Antonio Tarín-Pelló, Elisa Marco-Crespo, Beatriz Suay-García, Carolina Galiana-Roselló, José I Bueso-Bordils, María-Teresa Pérez-Gracia
Journal: Front Microbiol (2022)
Keywords: amr awareness, antibiotics, antimicrobial resistance, antimicrobial stewardship, citizen science, education, health communication, scientific awareness

Since 2017, the SWICEU team has developed various informative actions and innovative gamification supports to educate and raise awareness about antimicrobial resistance (AMR) and the correct use of antibiotics among the general population especially among young people. This case study presents the results obtained in the last 5 years with the strategies carried out by this team, composed of students and professors of Health Sciences, Industrial Design Engineering, and Communication Sciences at CEU Cardenal Herrera University (CEU UCH) in Valencia (Spain). Over the past 5 years, playful educational supports have been developed to make the health problem of bacterial resistance and the action of antibiotics more understandable among young people. The dissemination media used, with the same objective of teaching and raising awareness about AMR in a creative and innovative way, have been selected according to the trends in digital communication and use of scientific and health content provided by the most recent studies carried out among the Spanish population. These strategies have included decalogues or "tips" with useful advice, infographics, YouTube videos, Twitter threads, online challenges on Kahoot, stories on Instagram, use of QR codes, etc. These actions have also obtained diffusion in the media and have been awarded by different national and international entities. The good results obtained in the case under study allow us to establish recommendations for the design of innovative educational gamification and dissemination supports on AMR, especially aimed at younger audiences.
Deep Venous Thrombosis after Ad26.COV2.S Vaccination in Adult Male
Authors: Habiba Hussain, Matthew Sehring, Sheryll Soriano
Journal: Case Rep Crit Care (2021)
MeSH terms: Case Reports

With extensive loss of life and well-being seen since the beginning of the SARS-CoV-2 pandemic, the initiation of vaccinations has come with enormous hope towards the end of this pandemic. Detailed discussions regarding the safety and efficacy of these vaccines led to their approval. With such success, there have also been reports of vaccine-associated adverse events-allergic reactions, anaphylaxis, immune thrombocytopenia, and thrombosis. We discuss and report the first case of a healthy young adult male developing extensive thrombosis, after receiving the Ad26.COV2.S (Johnson & Johnson/Janssen) vaccine.
A Complicated Pregnancy in an Adult with HNF4A p.R63W-Associated Fanconi Syndrome
Authors: Oluwaseun Anyiam, Elizabeth Wallin, Felicity Kaplan, Christopher Lawrence
Journal: Case Rep Med (2019)
MeSH terms: Case Reports

Renal Fanconi syndrome (RFS) is characterised by generalised dysfunction of the proximal renal tubules, resulting in excessive urinary loss of solutes, most notably bicarbonate, and type II (proximal) renal tubular acidosis. It is a rare condition, and literature around its management through pregnancy is limited. We present the management of a 37-year-old woman with RFS secondary to the HNF4A p.R63W mutation, through her third pregnancy. She presented at 28 + 5 weeks with dehydration, low serum bicarbonate, and profound metabolic acidosis. Daily infusions of sodium bicarbonate were necessary, and the requirements increased throughout the pregnancy. She also demonstrated both fasting hypoglycaemia and episodes of postprandial hyperglycaemia which required complex management. Due to concerns around fetal health, an elective caesarean section was performed at 34 weeks, delivering a healthy baby girl. This case highlights the potential complexity of pregnancy in patients with RFS and the need for a multidisciplinary approach to its management.
Case Report: Suppression of Harem Stallion Behavior and Fertility Following Anti-Gonadotropin-Releasing Hormone Vaccination of a Captive Wild Przewalski's Horse ( Equus ferus przewalskii)
Authors: Jérôme Ponthier, Goulven Rigaux, Sonia Parrilla-Hernandez, Sophie Egyptien, Carine Gatez, Carla Carrasco Leroy, Stéfan Deleuze
Journal: Front Vet Sci (2020)
Keywords: przewalski horse (equus ferus przewalskii), anti-gnrh immunization, castration, electro-ejaculation, neutering, wildlife preservation
MeSH terms: Case Reports

This report describes an option to modulate the testicular function of wild horses and field methods to assess it. Non-surgical castration of a captive wild Przewalski's stallion with anti-gonadotropin-releasing hormone (GnRH) immunization was performed by sub-cutaneous injection of two doses of 450 μg (3 ml) of GnRH conjugated to diphtheria toxin, further repeated every 6 months. Semen quality was assessed after collection by electro-ejaculation under general anesthesia. Endocrine and behavioral consequences were studied during a 2-year follow-up period. The procedure of electro-ejaculation was safe and effective to collect spermatozoa. Motility was low but was improved by a significant dilution of sample (1v/4v-1v/5v) after collection. Immuno-neutering resulted in a decrease of the total spermatozoa number and motility 1 month after primary vaccination. However, infertility could not yet be guaranteed. Six months post-vaccination, serum testosterone concentrations had decreased and the treated stallion had lost his harem stallion role. Moreover, at the same time, the total spermatozoa number was near zero with no motile spermatozoa, and offspring was no longer observed. As a conclusion, electro-ejaculation under general anesthesia is suitable on wild horses to obtain spermatozoa that should be washed or largely diluted before use for artificial insemination (AI) programs. Anti-GnRH immuno-neutering protocol led to a dramatic decrease of spermatozoa number, motility, and testosterone production. This also induced deep changes in the social structure of the band. Such technique could be considered as an alternative to surgical castration in wild horses.
Ehrlichiosis-Associated Hemophagocytic Lymphohistiocytosis: A Case Series and Review of the Literature
Authors: Kassem Hammoud, Robert Fulmer, Megan Hamner, Wissam El Atrouni
Journal: Case Rep Hematol (2023)
MeSH terms: Case Reports

Background:
Human monocytic ehrlichiosis (HME) is a potentially life-threatening tick-borne illness. HME-associated hemophagocytic lymphohistiocytosis (HLH) is a rare entity with a paucity of published literature regarding treatment and outcome. We present the clinical features, treatment, and outcomes of 4 patients at our institutions with HME-associated HLH. This review also summarizes the current literature regarding the presentation, treatment, and outcome of this infection-related HLH.
Methods:
We searched the PubMed database for case reports and case series. All cases were diagnosed according to the HLH-04 criteria.
Results:
Four cases of HME-associated HLH were included from our institutions. The literature review yielded 30 additional cases. About 41% of the cases were in the pediatric population; 59% were female; and all patients had fever, cytopenia, and elevated ferritin. Most patients were immunocompetent; all but one patient with available data were treated with doxycycline, and eight of the patients with available data received the HLH-94 treatment protocol. The mortality rate was 17.6%.
Conclusions:
HME-associated HLH is a rare but serious syndrome with significant mortality. Early treatment with doxycycline is critical, but the role of immunosuppressive therapy is individualized.
Pacinian hyperplasia presenting with Raynaud's phenomenon
Authors: Brent B Pickrell, Simon G Talbot, Danielle C Costigan, Christian E Sampson
Journal: Case Reports Plast Surg Hand Surg (2019)
Keywords: crest syndrome, pacinian corpuscle, raynaud’s phenomenon, digital ischemia, hand pain, hyperplasia
MeSH terms: Case Reports

Pacinian corpuscle pathology is a rare clinical entity and an uncommonly reported cause of digital pain. While many prior reports implicate hand trauma, we describe a case of Pacinian hyperplasia found in a patient with Raynaud's phenomenon and propose a potential mechanism of disease.
Delayed Diagnosis of Unilateral Mandibular Condylar Fracture in a Posterior Edentulous Patient
Authors: Sahani Anupama, Pilana Vithanage Kalani Shihanika Hettiarachchi
Journal: Case Rep Dent (2021)
MeSH terms: Case Reports

Background:
Fractures of the mandible are common in elderly patients, and among them, condylar fractures are the most frequent type. A change in occlusion is the most common physical finding in patients with fractures of the mandible. Therefore, it is challenging to identify mandibular fractures in posterior edentulous patients due to the lack of posterior occlusal contacts. It is crucial to do radiological investigations in such patients to exclude fractures. Case Presentation. This article describes a case of delayed diagnosis of a unilateral mandibular condylar fracture for a week's duration and treating the condition as temporomandibular pathology in a posterior edentulous, 52-year-old patient.
Conclusion:
This clinical case highlights the importance of radiological investigations and occlusal analysis for early diagnosis of condylar fractures, particularly in posterior edentulous patients, lacking posterior occlusal contacts.
Rickettsial fever leading to upper disphagya: A rare neurovascular conflict between vertebral artery and glossopharyngeal nerve
Authors: Jorge Lourenco, Joana Coelho, Pedro Ribeiro
Journal: IDCases (2021)
Keywords: dysphagia, fever, neuropathy, rickettsia
MeSH terms: Case Reports

Rickettsial fevers are a common type of zoonosis with potential neurological involvement, mostly in form of meningoencephalitis. However, there are some rare cases that could compromise cranial nerves function through vascular inflammation. In this paper, we describe a rare case of dysphagia related to glossopharyngeal involvement by juxtaposed vertebral artery vasculitis.
Rapid response to monotherapy with MEK inhibitor trametinib for a lung adenocarcinoma patient harboring primary SDN1-BRAF fusion: A case report and literature review
Authors: Yang Yu, Min Yu, Yanying Li, Xiaojuan Zhou, Tian Tian, Yijia Du, Zegui Tu, Meijuan Huang
Journal: Front Oncol (2022)
Keywords: braf fusion, mapk pathway, sdn1-braf, lung adenocarcinoma, trametinib
MeSH terms: Case Reports

BRAF gene has been identified as an oncogenic driver and a potential target in various malignancies. BRAF fusions are one subtype of BRAF alterations with a rare frequency. Here, we first report a previously treated advanced lung adenocarcinoma patient with de novo SND1-BRAF fusion who achieves partial response to the MAK inhibitor trametinib. We also provide a literature review on targeted therapies for BRAF fusions.
Atypical steatocystoma multiplex with calcification
Authors: Muhammad Hasibur Rahman, Muhammad Saiful Islam, Nazma Parvin Ansari
Journal: ISRN Dermatol (2011)
MeSH terms: Case Reports

A 60-year-old male reported to us with an atypical case of giant steatocystoma multiplex in the scrotum with calcification. There was no family history of similar lesions. Yellowish, creamy material was expressed from a nodule during punch biopsy. The diagnosis was based on clinical as well as histological findings. Successful surgical excision was done to cure the case without any complications.
18F-Fluoride PET/CT Imaging of Medication-Related Osteonecrosis of the Jaw in Conservative Treatment-A Case Report
Authors: Christian Philipp Reinert, Christina Pfannenberg, Sergios Gatidis, Christian la Fougère, Konstantin Nikolaou, Sebastian Hoefert
Journal: Front Oncol (2021)
Keywords: 18f-fluoride, pet/ct, antiresorptive therapy, bisphosphonates, hybrid imaging, medication-related osteonecrosis of the jaw
MeSH terms: Case Reports

Medication-related osteonecrosis of the jaw (MRONJ) is a serious side effect in antiresorptive treatment. Treatment of MRONJ is considered primarily conservative with oral mouth rinses and antibiotics but may demand surgery, depending on the complaints and general condition of the patient, the extent of the necrosis, and the overall prognosis with respect to the underlying disease. A 77 year old female patient with invasive ductal breast cancer and bone metastases was treated with intravenous bisphosphonate (BP) zoledronic acid. During therapy, she developed MRONJ in the mandible with severe pain. Clinical examination revealed confluent exposed bone of the lower left jaw and a fistula at the right molar region. The panoramic radiograph revealed a mandibular osseous involvement with diffuse radiopaque areas between radiolucent areas. For preoperative planning, 18F-fluoride positron emission tomography/computed tomography (PET/CT) of the jaw was performed, showing substantially increased 18F-fluoride uptake in regions 38 to 47 of the mandible with a focal gap in region 36 (area of clinically exposed bone). CT revealed medullary sclerosis and cortical thickening with confluent periosteal reaction and focal cortical erosion in the regions 37 to 42, whereas the regions 43 to 47 were only subtly sclerotic without cortical thickening. After systemic antibiotic therapy with sultamicillin following significant symptom and pain relief, 18F-fluoride PET/CT imaging was performed again after 5 months. No changes in either CT and PET were observed in regions 38 to 42, whereas the bony sclerosis was slightly increased in regions 43 to 47 with a slight reduction of 18F-fluoride uptake. 18F-fluoride PET/CT showed no significant changes assessing the extent of MRONJ prior and after systemic antibiotic therapy, providing no evidence that conservative treatment reduced the extent of the MRONJ-affected jawbone. The additional information of 18F-fluoride PET enables to identify the true extent of MRONJ which may be underestimated by CT imaging alone. Patients with MRONJ undergoing conservative treatment could benefit because additional imaging may be avoided as the pre-therapeutic 18F-fluoride PET/CT delivers all information needed for further treatment. Our findings support the recommendation of a surgical approach as long-term antibiotics cannot downsize the extent of MRONJ.