OpenMed/multicare-articles huggingface dataset:
A Novel Loss-of-Function MKRN3 Variant in a Chinese Patient With Familial Precocious Puberty: A Case Report and Functional Study
Authors: Xueling Yin, Junqi Wang, Tianting Han, Zhang Tingting, Yuhong Li, Zhiya Dong, Wei Wang, Chuanyin Li, Wenli Lu
Journal: Front Genet (2021)
Keywords: gnrh, mkrn3, central precious puberty, makorin ring-finger protein 3, ubiquitination

Background: Central precocious puberty (CPP) is one of the most common and complex problems in clinical pediatric endocrinology practice. Mutation of the MKRN3 gene can cause familial CPP. Methods and Results: Here we reported a Chinese patient bearing a novel MKRN3 mutation (c.G277A/p.Gly93Ser) and showing the CPP phenotype. Functional studies found that this mutation of MKRN3 attenuated its autoubiquitination, degradation, and inhibition on the transcriptional activity of GNRH1, KISS1, and TAC3 promoters. Conclusion: MKRN3 (Gly93Ser) is a loss-of-function mutation, which attenuates the inhibition on GnRH1-related signaling, suggesting that this mutant can lead to central precocious puberty.
Primary Intracranial Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor Mimicking Meningioma: A Case Report and Literature Review
Authors: Yining Jiang, Liyan Zhao, Yubo Wang, Xinrui Liu, Xinmin Wu, Yunqian Li
Journal: Front Oncol (2020)
Keywords: central nervous system, diagnosis, ewing sarcoma, peripheral primitive neuroectodermal tumor, primary intracranial, treatment
MeSH terms: Case Reports

Background: Primary intracranial Ewing sarcoma (ES)/peripheral primitive neuroectodermal tumors (pPNETs) are extremely rare malignancies, which arise in children and adolescents, with only 9 cases reported in patients over 30 years of age. Due to its rarity, MRI features and treatment strategies for primary intracranial ES/pPNETs remain unclear. The purpose of this study was to explore the clinical features, imaging findings, pathological characteristics, different diagnoses, treatment, and prognosis of cerebellar liponeurocytoma in adults. Case Description: A 55-year-old female was admitted to the hospital with memory decline over 1 month, which aggravated in the last 2 weeks. MRI showed a 4.3 × 6.5 × 3.5 cm heterogeneous large mass in the left frontal lobe with mild peritumoral edema. The mass was successfully removed under neuronavigation and electrophysiological monitoring. The entire mass was removed, and postoperative pathology indicated an ES pPNET diagnosis, with an EWSR1 gene rearrangement. Subsequently, the patient underwent disciplinary radiotherapy. Conclusion: The diagnosis of primary intracranial ES/pPNETs depends on the comprehensive consideration of histological examination, immunohistochemical analysis, and genetic detection. Gross tumor resection combined with radiotherapy and chemotherapy might be the most beneficial treatment.
The Lateral Approach in the Surgical Treatment of a Complex Dorsal Metacarpophalangeal Joint Dislocation of the Index Finger
Authors: Joana Monteiro Pereira, Miguel Quesado, Marcos Silva, João Das Dores Carvalho, Hélder Nogueira, Jorge Alves
Journal: Case Rep Orthop (2019)
MeSH terms: Case Reports

Complex dorsal metacarpophalangeal (MCP) joint dislocations as a result of hyperextension injuries are uncommon in the pediatric population and irreducible to closed maneuvers. Treatment of these complex lesions is invariably surgical, and dorsal or volar approaches are traditionally used. The authors describe a case of a 16-year-old male who suffered a fall onto his outstretched right hand in a soccer game. The patient presented to the ER with pain and deformity of the index finger MCP joint. Radiographs confirmed a complex MCP dislocation with a small osteochondral fragment. A lateral surgical approach was made, and interposition of the volar plate and an osteochondral fragment blocking the reduction were found. This versatile approach allowed access to volar and dorsal structures, minimizing the risk of surgical scarring and mobility arch limitation. To our knowledge, there are no reported cases regarding a lateral surgical approach.
Video recording emergency care and video-reflection to improve patient care; a narrative review and case-study of a neonatal intensive care unit
Authors: Veerle Heesters, Ruben Witlox, Henriette A van Zanten, Sophie J Jansen, Remco Visser, Veerle Heijstek, Arjan B Te Pas
Journal: Front Pediatr (2022)
Keywords: clinical audit, emergency care, quality improvement, video recording, video review, video-reflection, videotape recording
MeSH terms: Review

As the complexity of emergency care increases, current research methods to improve care are often unable to capture all aspects of everyday clinical practice. Video recordings can visualize clinical care in an objective way. They can be used as a tool to assess care and to reflect on care with the caregivers themselves. Although the use of video recordings to reflect on medical interventions (video-reflection) has increased over the years, it is still not used on a regular basis. However, video-reflection proved to be of educational value and can improve teams' management and performance. It has a positive effect on guideline adherence, documentation, clinical care and teamwork. Recordings can also be used for video-reflexivity. Here, caregivers review recordings together to reflect on their everyday practice from new perspectives with regard to context and conduct in general. Although video-reflection in emergency care has proven to be valuable, certain preconditions have to be met and obstacles need to be overcome. These include gaining trust of the caregivers, having a proper consent-procedure, maintaining confidentiality and adequate use of technical equipment. To implement the lessons learned from video-reflection in a sustainable way and to continuously improve care, it should be integrated in regular simulation training or education. This narrative review will describe the development of video recording in emergency care and how video-reflection can improve patient care and safety in new ways. On our own department, the NICU at the LUMC, video-reflection has already been implemented and we want to further expand this. We will describe the use of video-reflection in our own unit. Based on the results of this narrative review we will propose options for future research to increase the value of video-reflection.
Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay - New Cases With TRAF7 Variants
Authors: Justyna Paprocka, Magdalena Nowak, Maria Nieć, Izabela Janik, Małgorzata Rydzanicz, Śmigiel Robert, Magdalena Klaniewska, Karolina Rutkowska, Rafał Płoski, Aleksandra Jezela-Stanek
Journal: Front Med (Lausanne) (2021)
Keywords: traf7 variants, blepharophimosis, developmental delay, dysmorphic features, facial features, ptosis
MeSH terms: Case Reports

Germline variants in tumor necrosis factor receptor-associated factor 7 (TRAF7) gene have recently been described in about 50 patients with developmental delay and cardiac, facial, and digital anomalies (CAFDADD). We aimed to depict further the clinical and genetic spectrum associated with TRAF7 germline variants in two additional patients, broaden the mutational spectrum, and support the characteristic clinical variety to facilitate the diagnostics of the syndrome among physician involved in the evaluation of patients with developmental delay/congenital malformations.
Severe Myositis, Myocarditis, and Myasthenia Gravis with Elevated Anti-Striated Muscle Antibody following Single Dose of Ipilimumab-Nivolumab Therapy in a Patient with Metastatic Melanoma
Authors: Mahdieh Fazel, Patrick M Jedlowski
Journal: Case Reports Immunol (2019)
MeSH terms: Case Reports

Immune checkpoint inhibitors targeting programmed cell death protein 1 and cytotoxic T-lymphocyte associated protein 4 have improved survival in patients with metastatic melanoma, especially in combination (i.e., ipilimumab-nivolumab). Postmarketing surveillance has identified rare but at times life-threatening adverse effects associated with these agents in combination and as monotherapy, which include myocarditis, myositis, myasthenia gravis (MG), and hepatotoxicity. Further evaluation of immune checkpoint therapy-induced MG identified the rapid clinical progression, prolonged treatment/supportive therapy course, and higher frequency of myasthenic crisis in these patients versus those with idiopathic MG. More rapid incorporation of aggressive treatment options (i.e., intravenous immunoglobulin, plasmapheresis) may be necessary in these cases. Anti-striational antibodies are often detected in individuals with myasthenia gravis and concurrent myositis and myocarditis. A high-index of suspicion is necessary to assist with rapid treatment initiation as these patients can rapidly deteriorate into respiratory compromise. A case of a 78-year-old woman with metastatic melanoma status after combination therapy with ipilimumab-nivolumab that developed transaminitis, myositis, myocarditis, and myasthenia gravis (with positive anti-striational antibodies) five days after the first cycle, is presented. Despite high dose intravenous methylprednisolone and intravenous immunoglobulin treatment, she ultimately entered hospice care eight days after hospital admission, 36 days after her first cycle.
A rare root canal configuration of maxillary second molar: a case report
Authors: Gautam P Badole, Rakesh N Bahadure, M M Warhadpande, Rajesh Kubde
Journal: Case Rep Dent (2012)

A thorough knowledge of root canal morphology is a prerequisite for the endodontic therapy. The maxillary molars, especially the second molars, have the most complicated root canal system in permanent dentition. There are many variations in canal number and configuration in maxillary molars. Treatment may be unsuccessful because the dentist may fail to recognize the unusual canal configuration. The present paper describes a case of a right maxillary second molar with a canal configuration rarely reported in the literature. The tooth had four roots with four root canals, two individual palatal roots (mesiopalatal and distopalatal) with their own separate canals. The mesiobuccal and distobuccal root had normal anatomy. This paper may intensify the complexity of maxillary molar variation and is intended to reinforce clinician's awareness of the rare morphology of root canals.
Posterior Cord Syndrome and Trace Elements Deficiency as an Uncommon Presentation of Common Variable Immunodeficiency
Authors: Yuri Silva Macedo, Ananda Dos Santos Mota, Priscila Morais Monteiro, Angela Cristina Gouvêa Carvalho, Barbara Fernandes Diniz, Pedro Gemal Lanzieri, Ricardo Carneiro Ramos, Luis Otavio Mocarzel, Ronaldo Altenburg Gismondi
Journal: Case Rep Med (2017)
MeSH terms: Case Reports

Diarrhea is one of the most common symptoms in common variable immunodeficiency, but neurologic manifestations are rare. We presented a 50-year-old woman with recurrent diarrhea and severe weight loss that developed a posterior cord syndrome. Endoscopy found a duodenal villous blunting, intraepithelial lymphocytosis, and lack of plasma cells and magnetic resonance imaging of the spine was normal. Laboratory assays confirmed common variable immunodeficiency syndrome and showed low levels of trace elements (copper and zinc). Treatment was initiated with parenteral replacement of trace elements and intravenous human immunoglobulin and the patient improved clinically. In conclusion, physicians must be aware that gastrointestinal and neurologic disorders may be related to each other and remember to request trace elements laboratory assessment.
Small bowel obstruction secondary to left paraduodenal hernia: A case report and literature review
Authors: Youssef Sleiman, Alaa El-Kheir, Melody El-Khoury, Omar Hamdach, Layla Ismail, Mustafa Allouch
Journal: Int J Surg Case Rep (2018)
Keywords: internal hernia, intestinal obstruction, landzert fossa, left paraduodenal hernia

Introduction:
Internal hernias are uncommon and are defined by the protrusion of a viscus through intraperitoneal defects. Left paraduodenal hernias (LPDH) are the most common type of congenital internal hernia (CIH). We report a clinical case of a patient with a small bowel obstruction (SBO) due to a LPDH.
Case presentation:
An elderly patient, with negative surgical history, presented to the emergency room with abdominal pain and vomiting. Clinical and radiologic investigations were consistent with SBO due to an internal hernia. During laparotomy, a large LPDH containing dilated small bowel loops was identified. The hernia contents were reduced and the opening was closed with non-absorbable sutures. The post-operative course was uneventful without signs of recurrence at follow up.
Discussion:
LPDH result from absence of retroperitoneal fixation of the descending colon mesentery. Usually, patients are asymptomatic and LPDH are incidental findings detected on imaging and/or during laparotomy. However, LPDH may lead to acute SBO therefore a high index of clinical suspicion and preoperative imaging is crucial to make an early diagnosis.
Conclusion:
CIH is a rare condition due to embryologic developmental abnormalities. Their diagnosis is based on pathognomonic findings on computed tomography scanner (CTscan). Surgical treatment is the mainstay treatment. Delay diagnosis of strangulated CIH is associated with significant morbidity andmortality.
Case report: Importance of early and continuous tocilizumab therapy in nephrotic syndrome associated with idiopathic multicentric Castleman disease: A case series
Authors: Daiki Kojima, Shintaro Yamaguchi, Akinori Hashiguchi, Kaori Hayashi, Kiyotaka Uchiyama, Norifumi Yoshimoto, Keika Adachi, Takashin Nakayama, Ken Nishioka, Takaya Tajima, Kohkichi Morimoto, Jun Yoshino, Tadashi Yoshida, Toshiaki Monkawa, Takeshi Kanda, Hiroshi Itoh
Journal: Front Med (Lausanne) (2023)
Keywords: il-6 inhibitor, acute kidney injury, idiopathic multicentric castleman disease, renal pathology, renal replacement therapy, secondary nephrotic syndrome, tocilizumab
MeSH terms: Case Reports

Idiopathic multicentric Castleman disease (iMCD) is a systemic and polyclonal lymphoproliferative disease involving multiple organs, including the kidneys, due to the overproduction of interleukin-6 (IL-6). Recently, several reports have suggested that excessive IL-6 actions in iMCD could have a causal relationship with the development of diverse histopathological renal manifestations that cause nephrotic syndrome. However, the treatment for such cases remains unclear. We report a series of three cases of nephrotic syndrome due to iMCD that helps to delineate the importance of early and continuous therapy with the anti-interleukin-6 receptor antibody tocilizumab. First, treatment was suspended for infectious control, and the patient presented with nephrotic syndrome due to diffuse mesangial and endocapillary hypercellularity without immune deposits complicating acute kidney injury. Second, iMCD was treated with prednisolone alone. The patient suddenly developed nephrotic syndrome due to immune-complex glomerulonephritis, not otherwise specified, complicated with acute kidney injury. In the third case, nephrotic syndrome secondary to membranous glomerulonephritis was diagnosed, with a skin rash and IgE antibodies to tocilizumab, and was therefore treated with prednisolone alone. In contrast to the first two cases, the third progressed to end-stage renal disease on hemodialysis. Taken together, this series suggests that clinicians should maintain clinical vigilance for iMCD as a possible underlying component of nephrotic syndrome, since iMCD presents with a variety of renal pathologies. Prompt initiation and continuous administration of tocilizumab are likely key determinants of renal outcomes in such cases. In particular, when tocilizumab is suspended due to infection or in the perioperative period, consideration of its expeditious resumption should be made, taking into account both the withdrawal period and systemic conditions.
Pulmonary Edema and Diastolic Heart Failure in the Perioperative Period
Authors: Galen Royce-Nagel, Kunal Karamchandani
Journal: Case Rep Anesthesiol (2018)
MeSH terms: Case Reports

Heart failure with preserved ejection fraction (HFPEF) is a diagnosis encountered with increasing frequency in the aging population. We present a case of postoperative pulmonary edema in 63-year-old male with HFPEF. This patient highlights the gap in risk stratification with respect to diastolic heart failure.
Chryseobacterium indologenes Keratitis: Successful Treatment of Multidrug-Resistant Strain
Authors: Ivan J Lee, Thomas Mauger
Journal: Case Rep Ophthalmol Med (2021)
MeSH terms: Case Reports

A 72-year-old male with history of monocular vision with complete vision loss in his right eye from previous retinal detachment presented with 20/200 vision in the left eye with a corneal ulcer. Culture was obtained, and the patient was started on fortified tobramycin, fortified vancomycin, and amphotericin. Despite the antibiotics, the patient did not significantly improve, after which another culture was obtained before the patient was taken to the surgery for cryotherapy and a partial conjunctival flap. The culture identified Chryseobacterium indologenes. There have been fewer than a handful of cases reported in the last three decades with different antibiotic susceptibility profiles. Our patient was successfully treated with ciprofloxacin and ceftazidime with the final vision of 20/40.
A Curious Case of Chryseobacterium indologenes Culture in a Young Adult Kidney Transplant Patient
Authors: Riddhi R Machchhar, Jessica S Yang, Marciano Figueroa, Kajal Ghodasara, Bassam Hasan
Journal: Cureus (2023)
Keywords: chryseobacterium indologenes, immunocompromised patient, multi-drug resistant organism (mdro), symptomatic uti, trimethoprim/sulfamethoxazole
MeSH terms: Case Reports

Chryseobacterium indologenes (C. indologenes) is an increasingly common multidrug-resistant organism (MDRO) and is not part of the normal human flora. It is most commonly found in patients who are immunocompromised and/or in poor health, with multiple comorbidities. As an increasingly identified MDRO, C. indologenes needs to be identified early, especially in patients with multiple comorbidities, organ transplants, or on mechanical ventilation. We present a case of a young immunocompromised male with an extensive kidney disease history who acquired this new MDRO bacteria, C. indologenes.
Extramedullary plasmocytoma relapsing at differents sites: an unusual presentation
Authors: Maryame Ahnach, Sofia Marouan, Mohamed Rachid, Abdellah Madani, Asmaa Quessar, Said Benchekroun, Meryem Quachouh
Journal: Pan Afr Med J (2013)
Keywords: extramedullary plasmocytoma, primary testicular plasmocytoma, recurrence, retroperitoneal plasmocytoma
MeSH terms: Plasmacytoma / pathology, Plasmacytoma / secondary, Testicular Neoplasms / pathology, Case Reports, Aged, Humans, Male

Extramedullary plasmacytoma (EMP) is an uncommon plasma cell neoplasm results from plasma cell proliferation and consists of monoclonal plasmacytic infiltration, without bone marrow involvement and any other systemic characteristics of multiple myeloma. EMP accounts for 3% of all plasma cell neoplasms and approximately 80% to 90% of EMP involve submucosa of the upper aerodigestive, while scrotal, dermis and retroperitoneal infiltration are very rare. There are no consensus guidelines for treatment, but EMP is highly radiosensitive, surgery may be considered for some sites, but 11 at 30% can progress in multiple myeloma. We report here an exceptional case of recurrent EMP in much localization. It's about a man 72 years old with initially testicular plasmocytoma who generalized the plasmacytic infiltration after 16 months in skin and progressively in mediastinal and retroperitoneal plasmacytoma, without any medullar and bone involvement.
Effects of Intravenous Immunoglobulin and Acyclovir in Preventing Neonatal Varicella
Authors: Waritsara Piyanonpong
Journal: Case Rep Infect Dis (2020)
MeSH terms: Case Reports

Neonatal varicella mostly results from maternal varicella. The disease can cause presentation ranging from mild symptoms to varicella pneumonia, hepatitis, meningoencephalitis, or fatality. If the mother develops symptoms implying varicella 4-5 days antepartum to 2 days postpartum, the mortality rate of the baby may reach 20%. We report a case of neonatal varicella from maternal varicella. The patient's mother initially developed maculopapular rash over her trunk 1 day after giving birth; she had a family member in the same household diagnosed with herpes zoster recently, and another member with diagnosed varicella, whose rash disappeared before the patient's birth. On the baby's third day of life, discrete vesicular rashes on erythematous background and discrete erythematous maculopapular rashes were found over his trunk, arms, and legs. The baby was subsequently diagnosed with neonatal varicella and was treated by intravenous immunoglobulin (IVIG) because there was no varicella zoster immunoglobulin (VZIG) available in the hospital, and also, intravenous acyclovir was given for 7 days. The rash completely resolved by the baby's fifth day of life, without any complications. The combination of IVIG and acyclovir might not effectively prevent neonatal varicella, but the medication could prevent the baby from developing serious complications and shorten the clinical course.
Fiber-reinforced Composite Resin Bridge: A Treatment Option in Children
Authors: Amit Gupta, Rama Krishna Yelluri, A K Munshi
Journal: Int J Clin Pediatr Dent (2015)
Keywords: composite resin, polyethylene fiber, pontic, resin bridge, ribbond
MeSH terms: Case Reports

A number of treatment options, ranging from Maryland bridges to implants, are available for the replacement of congenitally or traumatically missing permanent anterior teeth. But, there are several limitations of these therapeutic options when they have to be used before the completion of the growth, particularly in children. Reinforcement of composite resins with polyethylene fibers significantly improves their mechanical properties. Fiber-reinforced composite (FRC) bridge can offer a good alternative to conventional treatment options in replacing a missing permanent anterior tooth until a more definitive prosthesis can be provided at the end of the growth period. The purpose of this article is to present a clinical case of a single tooth replacement utilizing noninvasive and metal free fixed FRC bridge in a 13 years old child as an interim treatment option. How to cite this article: Gupta A, Yelluri RK, Munshi AK. Fiber-reinforced Composite Resin Bridge: A Treatment Option in Children. Int J Clin Pediatr Dent 2015;8(1):62-65.
Multifocal and multicentric glioblastoma with leptomeningeal gliomatosis: a case report and review of the literature
Authors: Sophia F Shakur, Esther Bit-Ivan, William G Watkin, Ryan T Merrell, Hamad I Farhat
Journal: Case Rep Med (2013)

Glioblastoma (GBM) rarely presents as an infratentorial tumor in adults. The authors present a case of concomitant supratentorial and infratentorial GBM in an adult. A 72-year-old man presented with headache, nausea, vomiting, and lightheadedness. Initial MR images revealed enhancing masses in the right cerebellum and right posterior periventricular region. The patient underwent a suboccipital craniotomy and resection of the cerebellar lesion. Final histopathology was consistent with glioblastoma. The patient went on to receive standard radiation treatment for GBM with concurrent and adjuvant temozolomide. However, the patient experienced clinical deterioration within a few days after starting radiotherapy. He and his family decided to forego treatment and pursue palliative care. The patient expired three months after the initial diagnosis. Autopsy findings supported the diagnosis of GBM with leptomeningeal gliomatosis and involvement of the cerebrum, cerebellum, and spinal cord. The authors review the literature and propose that the pathogenesis of multiple and multicentric GBM may involve neural stem cells within the subventricular zone or could result from tumor dissemination along established CNS routes, such as white matter tracts and CSF pathways.