OpenMed/multicare-articles huggingface dataset:
Partial response to niraparib in combination with tislelizumab in a patient with metastatic undifferentiated tonsillar carcinoma: a case report and literature review
Authors: Jing Zhang, Zi Dai, Pei Liao, Jieshan Guan
Journal: Front Oncol (2023)
Keywords: parp inhibitor, case report, immune checkpoint inhibitors, metastatic undifferentiated tonsillar carcinoma, next-generation sequencing, niraparib
MeSH terms: Case Reports

Undifferentiated tonsillar carcinoma is an extremely rare head and neck cancer. The treatment options are challenging due to insensitivity to chemotherapy and easy development of drug resistance. In this study, we reported a case of advanced undifferentiated tonsillar carcinoma with multiple mediastinal lymph node metastases that failed to respond to chemotherapy. Next-generation sequencing (NGS) revealed germline BReast CAncer gene (BRCA) 1 mutation and a high tumor mutational burden. Poly (adenosine diphosphate [ADP]-ribose) polymerase (PARP) inhibitors have demonstrated efficacy in solid tumors with BRCA1/2 mutations. Immune checkpoint inhibitors (ICIs) provide a treatment option for unresectable head and neck cancer. After local control treatment by embolization, niraparib and tislelizumab were administered to this patient. A partial response (PR) was achieved, and progression-free survival (PFS) and overall survival (OS) were 12 months and 19 months, respectively. This case reveals molecular profiling as an important therapeutic strategy for rare malignancies with no standard of care. Moreover, the underlying synergistic antitumor activity of PARPi and PD-L1 blockade was reviewed.
Case report and discussion: Pre-implantation genetic diagnosis with surrogacy in vascular Ehlers-Danlos syndrome
Authors: Chloe Angwin, Neeti Ghali, Fleur Stephanie van Dijk
Journal: Front Genet (2023)
Keywords: ehlers–danlos syndrome, in vitro fertilization, pre-implantation genetic diagnosis, surrogacy, vascular
MeSH terms: Case Reports

Introduction: Vascular Ehlers-Danlos syndrome (vEDS) is an autosomal dominant inherited connective tissue condition, characterized by generalized tissue fragility with an increased risk of arterial dissection and hollow organ rupture. In women with vEDS, pregnancy and childbirth carry significant risks of both morbidity and mortality. The Human Fertilisation and Embryology Authority has approved vEDS for pre-implantation genetic diagnosis (PGD), given the potential for life-limiting complications. PGD avoids implantation of embryos that are affected by specific disorders by carrying out genetic testing (either for a familial variant or whole gene) and selecting unaffected embryos prior to implantation. Case: We present an essential clinical update to the only published clinical case of a woman with vEDS undergoing PGD with surrogacy, initially through stimulated in vitro fertilization (IVF) and in vitro maturation (IVM) and subsequently through natural IVF. Discussion: In our experience, a subset of women with vEDS do wish to have biological, unaffected children through PGD despite being aware of the risks of pregnancy and delivery. Given the clinical heterogeneity in vEDS, these women could be considered on a case-by-case basis for PGD. Controlled studies with comprehensive patient monitoring evaluating the safety of PGD are essential to equitable healthcare provision.
Case study of colorectal endometriosis treated with endoscopic submucosal excavation
Authors: Tangzhou Xu, Bingfeng Qiu, Qi Xu, Junhan Qu, Dandan Zhuang, Qiancheng Xu
Journal: Front Physiol (2023)
Keywords: cem, colorectal endometriosis, endometriosis, endoscopic submucosal excavation, surgical treatment

Colorectal endometriosis (CEM) is a rare and complicated form of deep invasive endometriosis. Its treatment methods include drug therapy and surgery. However, it is often difficult to alleviate symptoms and address problems, such as infertility, using drug treatment alone. Surgical intervention provides a histologic diagnosis, allows assessment of pelvic cysts or masses with features concerning for malignancy, and reduces pain by destroying the endometriotic implants. We consider surgery in women with the following: Persistent pain despite medical therapy; Contraindications to or refusal of medical therapy; Need for a tissue diagnosis of endometriosis; Exclusion of malignancy in an adnexal mass; Obstruction of the bowel or urinary tract. But there is no consensus about the surgical methods. With the rapid development of gastroenteroscopy technology in recent years, many local gastrointestinal tumors that previously required surgical resection can now be removed by endoscopic surgery. Herein, we report one case of CEM treated by endoscopic submucosal excavation (ESE) to provide a new treatment option for the radical resection of single CEM.
Preliminary Evaluation of Zanubrutinib-Containing Regimens in DLBCL and the Cerebrospinal Fluid Distribution of Zanubrutinib: A 13-Case Series
Authors: Yan Zhang, Yanan Li, Zhe Zhuang, Wei Wang, Chong Wei, Danqing Zhao, Daobin Zhou, Wei Zhang
Journal: Front Oncol (2021)
Keywords: zanubrutinib, cerebrospinal fluid, diffuse large b-cell lymphoma, distribution, liquid chromatography–tandem mass spectrometry

Zanubrutinib is a second-generation Bruton's tyrosine kinase inhibitor. Its safety and effectiveness in central nervous system (CNS) lymphoma along with its distribution in the brain and ability to cross the blood-brain barrier (BBB) remain unknown. This retrospective case series involved patients with diffuse large B-cell lymphoma (DLBCL) treated with zanubrutinib-containing regimens from August to December 2020 in PUMCH. The amounts of zanubrutinib in the plasma and brain were assessed by liquid chromatography-tandem mass spectrometry in paired plasma and cerebrospinal fluid (CSF) samples. In total, 13 patients were included: eight primary CNS lymphoma cases and five systemic DLBCL cases with 61.5% (8/13) refractory/relapsed and 84.6% (11/13) showing CNS involvement. The overall response rates were 84.5% in the entire population and 81.8% in the CNS-involved cases. A total of 23 time-matched plasma-CSF sample pairs were collected. The mean peak concentration of zanubrutinib in CSF was 2941.1 pg/ml (range, 466-9032.0 pg/ml). The corrected mean CSF/plasma ratio determined based on 94% protein binding was 42.7% ± 27.7% (range, 8.6%-106.3%). This preliminary study revealed the effectiveness of zanubrutinib-containing regimens in DLBLC, especially CNS-involved cases, for the first time. The excellent BBB penetration of zanubrutinib supports its further investigation for the treatment of CNS lymphoma.
Transformation of follicular lymphoma to double hit B-cell lymphoma causing hypercalcemia in a 69-year-old female: a case report and review of the literature
Authors: Sakshi Kapur, Miles B Levin
Journal: Case Rep Hematol (2014)

Double hit B-cell lymphomas are rare tumors that are defined by a chromosomal breakpoint affecting the MYC/8q24 locus in combination with another recurrent breakpoint, mainly a t(14;18)(q32;q21) involving BCL2. These tumors mostly occur in adults and carry a very poor prognosis. Double hit lymphomas can occur de novo, or arise from transformation of follicular lymphoma. We report a case of a 69-year-old female with abdominal distention and progressively worsening weakness over six months. Patient presented with severe hypercalcemia and multiple intra-abdominal/pelvic masses. Histopathology results of the abdominal mass were compatible with a double hit B-cell lymphoma. However, bone marrow biopsy results showed a low grade follicular lymphoma, thus suggesting peripheral transformation of follicular lymphoma to double hit B-cell lymphoma. Patient was transferred to a tertiary care center and was started on combination chemotherapy (EPOCH: doxorubicin, etoposide, vincristine, cyclophosphamide, and prednisone). Our paper highlights not only transformation of follicular lymphoma to double hit B-cell lymphoma and the challenges encountered in diagnosing and treating these aggressive tumors, but also the association of new onset/worsening hypercalcemia in such patients.
Distal chromosome 1q aberrations and initial response to ibrutinib in central nervous system relapsed mantle cell lymphoma
Authors: Marcus Høy Hansen, Karen Juul-Jensen, Oriane Cédile, Stephanie Kavan, Michael Boe Møller, Jacob Haaber, Charlotte Guldborg Nyvold
Journal: Leuk Res Rep (2021)
Keywords: central nervous system relapse, chromosome 1 aberration, copy number alteration, ibrutinib response, mantle cell lymphoma
MeSH terms: Case Reports

Relapse involving the central nervous system (CNS) is an infrequent event in the progression of mantle cell lymphoma (MCL) with an incidence of approximately four percent. We report four cases of MCL with CNS relapse. In three of the four patients a large chromosomal copy-number alteration (CNA) of 1q was demonstrated together with TP53 mutation/deletion. These patients experienced brief response to ibrutinib, whereas a fourth patient harboring mutated ATM demonstrated a long-term effect to ibrutinib and no CNA. Although it is unclear whether chromosome 1q CNA contribute to specific phenotypes these reports may be of value as such lesions are uncommon features of MCL.
Iatrogenic intraprosthetic dislocation after closed reduction of dual mobility total hip arthroplasty: Report of two cases
Authors: Marco Rotini, Marco Cianforlini, Daniele Aucone, Emanuele Pacetti, Rocco Politano
Journal: Int J Surg Case Rep (2020)
Keywords: case report, dislocation, dual mobility, iatrogenic, intraprosthetic, total hiparthroplasty
MeSH terms: Case Reports

Introduction:
Among hip arthroplasty, dual mobility aims to improve ROM and reduce dislocation rates, however this particular implant can fail in specific ways. Iatrogenic intraprosthetic dislocation (IPD) is a rare occurrence that can happen during closed reduction of a dislocated dual mobility total hip arthroplasty.
Presentation of case:
#1 - A 34-year-old male who came to our attention with an undiagnosed IPD. He had experienced a classic dislocation 6 days earlier, which was treated with closed reduction. CT-scan confirmed decoupling of the metal head and PE liner. #2 - An 89-year-old male came to our attention for THA dislocation. During closed reduction manouvers he suffered IPD of the implant. Both patients were treated with revision surgery.
Discussion:
Despite being already reported in literature, IPD are still not well known to practitioners and sometimes overlooked even by orthopaedic specialists. Given the good results and diffusion of this kind of implant, iatrogenic IPD in the contest of a classic dislocation might become more frequent in the clinical practice.
Conclusion:
When performing reduction maneuvers for a dislocated dual mobility total hip arthroplasty, X-rays must be carefully inspected for signs of IPD which, if undiagnosed, can lead to major implant damage and the need for extensive revision surgery.
Checkpoint inhibitor-induced gastritis followed by delayed severe hepatitis in a patient with lung metastases of head and neck squamous cell carcinoma: a case report
Authors: Tomoyuki Otsuka, Yoshiko Hashii, Sei Murayama, Yasunobu Ishizuka, Yoshiki Kojitani, Minako Nishio, Toshihiro Kudo
Journal: Front Oncol (2023)
Keywords: case report, delayed severe hepatitis, gastritis, head and neck squamous cell carcinoma, immune-related adverse events
MeSH terms: Case Reports

Pembrolizumab, an anti-programmed death-1 (PD-1) receptor monoclonal antibody, is an effective first-line therapy for metastatic head and neck squamous cell carcinoma. Immune-related adverse events (irAEs) are well-described complications of PD-1 inhibitors, and multiorgan irAEs are known to occur occasionally. We report a patient with pulmonary metastases of oropharyngeal squamous cell carcinoma (SCC), who developed gastritis followed by delayed severe hepatitis and recovered with triple immunosuppressant therapy. A 58-year-old Japanese male with pulmonary metastases of oropharyngeal SCC who was treated with pembrolizumab, subsequently developed new-onset appetite loss and upper abdominal pain. Upper gastrointestinal endoscopy revealed gastritis and immunohistochemistry revealed pembrolizumab-induced gastritis. The patient developed delayed severe hepatitis at 15 months after initiating pembrolizumab treatment, presenting "Grade 4 aspartate aminotransferase increase" and "Grade 4 alanine aminotransferase increase." Impaired liver function persisted despite pulse corticosteroid therapy with intravenous methylprednisolone 1,000 mg/day, followed by oral prednisolone 2 mg/kg/day and oral mycophenolate mofetil 2,000 mg/day. Tacrolimus, which reached target serum trough concentrations of 8-10 ng/mL, gradually improved irAE grades from Grade 4 to Grade 1. The patient responded well to triple immunosuppressant therapy comprising prednisolone, mycophenolate mofetil, and tacrolimus. Therefore, this immunotherapeutic approach could be effective for multiorgan irAEs in patients with cancer.
New Implant Design with Midcrestal and Apical Wing Thread for Increased Implant Stability in Single Postextraction Maxillary Implant
Authors: Antonio Scarano, Bartolomeo Assenza, Francesco Inchingolo, Filiberto Mastrangelo, Felice Lorusso
Journal: Case Rep Dent (2019)
MeSH terms: Case Reports

Background:
The immediate placement of a dental implant could represent an option treatment for the rehabilitation of a postextractive missing tooth socket to replace compromised or untreatable teeth, with the advantage of single-session surgery. In this way, the anatomy of the alveolar bone defect, the preservation of the buccal cortical bone, and the primary stability of the fixture represent the critical factors that consent a precise implant placement.
Objective:
This case report describes a novel fixture design for postextractive alveolar socket immediate implant.
Methods:
Two patients (25 and 31 years old) were treated for postextractive dental implant placement to replace both central upper incisor teeth with four implants. The residual bone implant gap was not filled with graft or bone substitute. The restoration was provided following a standard loading protocol by a cement-sealed prosthetic abutment.
Results:
Clinically, all implants positioned showed an excellent insertion torque. No postoperative complications were reported. At 6 months of healing, the buccal cortical bone and the implant stability were present and well maintained.
Conclusion:
The evidence of this study allows us to underline the possible advantages of this new fixture design for postextractive implant technique.
Cavernous Hemangioma of Temporalis Muscle: A Case Report
Authors: Gholamreza Motazedian, Ali Khojasteh, Nasrin Motazedian, Mohammad Hossein Anbardar
Journal: World J Plast Surg (2020)
Keywords: cavernous hemangioma, iran, temporalis muscle
MeSH terms: Case Reports

Cavernous hemangioma is an encapsulated nodular mass composed of dilated, cavernous vascular space separated by connective tissue stroma. Flattened endothelial cells line the vascular spaces, which were filled with blood. Though hemangiomas are the mast common benign neoplasms seen in children, they rarely occur in adults. In the head and neck region, the masseter and trapezius muscles are most commonly involved. Herein, the case is a 64 years old male who presented with a round, painless mass in the right temporal fossa with extension to infratemporal fossa. The lesion was surgically excised and histopathology confirmed the diagnosis of cavernous hemangioma.
Exceptional evolution of hepatocellular carcinoma
Authors: Haithem Rejab, Aymen Trigui, Youssef Mejdoub, Hazem Ben Ameur, Ahmed Kchaou, Aida Jemal, Khayreddine Ben Mahfoudgh, Rafik Mzali
Journal: Pan Afr Med J (2019)
Keywords: hepatocellular carcinoma, radiotherapy, spinal cord compression
MeSH terms: Carcinoma, Hepatocellular / complications, Liver Neoplasms / complications, Spinal Cord Compression / etiology, Case Reports, Review, Carcinoma, Hepatocellular / pathology, Humans, Liver Neoplasms / pathology, Male, Middle Aged

Hepatocellular carcinoma (HCC) tumor is the most common primary hepatic cancer. Bone metastases are rare with an incidence varying from 2% to 20% during autopsy. Spinal cord compression secondary to HCC is exceptional (0.03%-1.52%). It represents a therapeutic emergency. Therefore, it must be systematically searched in case of neurological signs. We report here two new cases of spinal cord compression secondary to HCC with a review of the literature.
Retinal Occlusive Vasculitis in a Patient with Hyperimmunoglobulin E Syndrome
Authors: Mohsen Farvardin, Mohammad Hassan Jalalpour, Mohammad Reza Khalili, Golnoush Mahmoudinezhad, Fereshteh Mosavat, Soheila Aleyasin, Hamidreza Jahanbani-Ardakani
Journal: Case Rep Ophthalmol Med (2021)
MeSH terms: Case Reports

Background:
Hyperimmunoglobulin E syndrome (HIES), or Job's syndrome, is a primary immunodeficiency disorder that is characterized by an elevated level of IgE with values reaching over 2000 IU (normal < 200 IU), eczema, and recurrent staphylococcus infection. Affected individuals are predisposed to infection, autoimmunity, and inflammation. Herein, we report a case of HIES with clinical findings of retinal occlusive vasculitis. Case Presentation. A 10-year-old boy with a known case of hyperimmunoglobulin E syndrome had exhibited loss of vision and bilateral dilated fixed pupil. Fundoscopic examination revealed peripheral retinal hemorrhaging, vascular sheathing around the retinal arteries and veins, and vascular occlusion in both eyes. A fluorescein angiography of the right eye showed hyper- and hypofluorescence in the macula and hypofluorescence in the periphery of the retina, peripheral arterial narrowing, and arterial occlusion. A fluorescein angiography of the left eye showed hyper- and hypofluorescence in the supranasal area of the optic disc. Macular optical coherence tomography of the right eye showed inner and outer retinal layer distortion. A genetic study was performed that confirmed mutations of the dedicator of cytokinesis 8 (DOCK 8). HSV polymerase chain reaction testing on aqueous humor and vitreous was negative, and finally, the patient was diagnosed with retinal occlusive vasculitis.
Conclusion:
Occlusive retinal vasculitis should be considered as a differential diagnosis in patients with hyperimmunoglobulin E syndrome presenting with visual loss.
Prelaminated Gracilis Flap with Buccal Mucosal Graft for Salvage of Devastated Urethra
Authors: Dmitriy Nikolavsky
Journal: Case Rep Urol (2015)

In patients with devastated bulbous urethra, that is, bulbar necrosis, failed fasciocutaneous repairs and "watering can perineum" repair options are limited by paucity of reliable local tissue suitable for reconstruction. In this case report we demonstrate a novel variation of a two-stage technique for reconstruction of a devastated bulbous urethra in a 57-year-old male who suffered penetrating trauma to his previously reconstructed urethra. Because of extensive loss of local tissue from the prior reconstruction and subsequent trauma and infection a 2-stage technique with use of gracilis was employed. This technique involved creation of two independently vascularized urethral hemi-plates prelaminated with buccal mucosa graft (BMG). In the first stage the dorsal plate was created by quilting buccal graft onto corpora cavernosa to create a temporary augmented perineal urethrostomy. In the same stage the future ventral neourethral plate was created by grafting another BMG onto the exposed distal gracilis muscle. Eight weeks later the two prelaminated plates were anastomosed by tunneling the gracilis-BMG composite into the perineum. At 8-month follow-up patient has normal voiding and continence. To our knowledge this is the first report of reconstructing an entire segment of devastated urethra in such a manner.
Three-dimensional printed, proximal phalangeal prosthesis with metatarsophalangeal joint arthroplasty for the treatment of a giant cell tumor of the fifth toe: The first case report
Authors: Chandhanarat Chandhanayingyong, Korakod Srikong, Chedtha Puncreobutr, Boonrat Lohwongwatana, Rapin Phimolsarnti, Bavornrit Chuckpaiwong
Journal: Int J Surg Case Rep (2020)
Keywords: case report, giant cell tumor of bone, metatarsophalangeal joint replacement, phalangeal tumor, three-dimensional printed prosthesis
MeSH terms: Case Reports

Introduction:
The majority of patients with bone sarcoma or an aggressive benign tumor of the toe can be successfully treated by amputation. However, limb-salvage surgery for toe tumors remains challenging.
Presentation of case:
A 26-year-old female presented with an enlarging mass on her right 5th toe. Imaging studies revealed an expansile osteolytic, destructive lesion of the proximal phalanx of the 5th toe with metatarsophalangeal (MTP) joint invasion. A biopsy specimen confirmed a grade 1, giant cell tumor of the bone. An en bloc resection of the proximal phalanx was performed, and the defect was reconstructed with a patient-matched, three-dimensional, printed titanium proximal phalanx endoprosthesis with an MTP joint extension. The postoperative course was uneventful. The patient has walked with full weight-bearing since early postoperatively. No local recurrence or metastases were evident. However, scar formation occurred after two years, causing an overriding toe deformity.
Discussion:
This case represents the first use of a toe prosthesis with MTP joint reconstruction. The complex MTP structure with a preserved metatarsal head facilitates the effort to mimic normal weight-bearing.
Conclusion:
A three-dimensional printed prosthesis of the 5th toe is a viable alternative to a bone graft or amputation. However, to avoid stiffness and complications, further study is needed to improve the prosthesis design.
Management of a Growth Hormone-Secreting Pituitary Macroadenoma Associated With Idiopathic Intracranial Hypertension and an Empty Sella
Authors: Hunter J King, Evan Luther, Alexis A Morell, Michael Ivan, Ricardo J Komotar
Journal: Cureus (2023)
Keywords: acromegaly, csf leak, empty sella turcica, idiopathic intracranial hypertension (iih), pituitary adenoma
MeSH terms: Case Reports

Idiopathic intracranial hypertension (IIH) is a -condition associated with elevated intracranial pressure (ICP) and frequently presents with headaches, papilledema, and visual loss. Rarely, IIH has been reported in association with acromegaly. Although removal of the tumor may reverse this process, elevated ICP, especially in the setting of an otherwise empty sella, may result in a cerebrospinal fluid (CSF) leak that is exceedingly difficult to manage. We present the first case of a patient with a functional pituitary adenoma causing acromegaly associated with IIH and an otherwise empty sella and discuss our management paradigm for this rare condition.
Peripheral ameloblastoma: a case report and review of literature
Authors: V T Beena, Kanaram Choudhary, R Heera, R Rajeev, R Sivakumar, K Vidhyadharan
Journal: Case Rep Dent (2012)
MeSH terms: Case Reports

Peripheral ameloblastoma, a rare and unusual variant of odontogenic tumour, comprises about 2-10% of all ameloblastomas. The extraosseous location is the peculiar feature of this type of tumour, which is otherwise similar to the classical ameloblastoma. This paper describes a case of peripheral ameloblastoma in a 67-year-old female affecting the lingual alveolar mucosa of the mandibular 32-34 region which was clinically diagnosed as pyogenic granuloma. This paper becomes important due to availability of all data, makeing it a well-documented case.