OpenMed/multicare-articles huggingface dataset:
The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D
Authors: Jie-Yuan Jin, Dan-Yu Liu, Zi-Jun Jiao, Yi Dong, Jie Li, Rong Xiang
Journal: Biomed Res Int (2020)
MeSH terms: Arthrogryposis / genetics, Arthrogryposis / pathology, Arthrogryposis / physiopathology, Metalloendopeptidases / genetics, Mutation / genetics, Ophthalmoplegia / genetics, Ophthalmoplegia / pathology, Ophthalmoplegia / physiopathology, Retinal Diseases / genetics, Retinal Diseases / pathology, Retinal Diseases / physiopathology, Case Reports, Child, DNA Mutational Analysis, Humans, Male, Pedigree, Polymorphism, Single Nucleotide / genetics, ECEL1 protein, human, Metalloendopeptidases, Oculomelic amyoplasia

Introduction:
Distal arthrogryposis type 5D (DA5D) is an autosomal recessive disease. The clinical symptoms include contractures of the joints of limbs, especially camptodactyly of the hands and/or feet, unilateral ptosis, a round-shaped face, arched eyebrows, and micrognathia, without ophthalmoplegia. ECEL1 is a DA5D causative gene that encodes a membrane-bound metalloprotease. ECEL1 plays important roles in the final axonal arborization of motor nerves in limb skeletal muscles and neuromuscular junction formation during prenatal development.
Methods:
A DA5D family with webbing of the elbows and fingers was recruited. We performed whole-exome sequencing (WES) and filtered mutations by disease-causing genes of arthrogryposis multiplex congenita (AMC). Mutational analysis and cosegregation confirmation were then performed.
Results:
We identified novel compound heterozygous mutations of ECEL1 (NM_004826: c.69C>A, p.C23∗ and c.1810G>A, p.G604R) in the proband.
Conclusions:
We detected causative mutations in a DA5D family, expanding the spectrum of known ECEL1 mutations and contributing to the clinical diagnosis of DA5D.
Thoracic Paravertebral Mass as an Infrequent Manifestation of IgG4-Related Disease
Authors: Melissa Matzumura Kuan, Bernard Rubin, Alireza Meysami
Journal: Case Rep Rheumatol (2017)
MeSH terms: Case Reports

Case:
A 50-year-old African American male presented with abdominal pain and significant weight loss. On physical examination, he had parotid and submandibular gland enlargement associated with right eye proptosis. Computed tomography showed a thoracic paravertebral soft tissue mass, enlarged lymph nodes, and ascending aortic aneurysm. Laboratory results were remarkable for elevated total IgG and IgG4 subclass. The submandibular gland pathology revealed chronic sclerosing sialadenitis, with a large subset of inflammatory cells positively staining for IgG4. The histology of the paravertebral mass demonstrated fibrosclerosis with increased lymphocytic infiltrate, associated with increased IgG4 plasma cells. He was diagnosed with immunoglobulin G4-related disease (IgG4-RD). Steroid therapy initially yielded improvement; however, after steroids were stopped, there was disease recurrence. Prednisone was restarted, and the plan was to start him on rituximab. Interestingly, the patient's brother also had IgG4-RD.
Conclusion:
IgG4-RD can present as a paravertebral mass which is usually responsive to steroids; however, recurrent and resistant disease can be seen for which steroid-sparing agents such as rituximab should be considered. In addition, to the best of our knowledge, this is the first reported case of IgG4-RD in two family members presenting as a paravertebral mass, highlighting an exciting area for more research in the future.
Adenomatoid odontogenic tumor of the mandible: review of the literature and report of a rare case
Authors: Jörg Gk Handschel, Rita A Depprich, André C Zimmermann, Stefan Braunstein, Norbert R Kübler
Journal: Head Face Med (2005)
MeSH terms: Adenomatoid Tumor / diagnosis, Mandibular Neoplasms / diagnosis, Odontogenic Tumors / diagnosis, Case Reports, Adenomatoid Tumor / surgery, Diagnosis, Differential, Humans, Male, Mandibular Neoplasms / surgery, Odontogenic Tumors / surgery, Oral Surgical Procedures / methods, Young Adult

Adenomatoid odontogenic tumor (AOT) is a rare odontogenic tumor which is often misdiagnosed as odontogenic cyst. To acquire additional information about AOT, all reports regarding AOT and cited in "pubmed" since 1990 onward were reviewed. AOT accounts for about 1% until 9% of all odontogenic tumors. It is predominantly found in young and female patients, located more often in the maxilla in most cases associated with an uneruppted permanent tooth. For radiological diagnose the intraoral periapical radiograph seems to be more useful than panoramic. However, AOT frequently resemble other odontogenic lesions such as dentigerous cysts or ameloblastoma. Immunohistochemically AOT is characterized by positive reactions with certain cytokeratins. Treatment is conservative and the prognosis is excellent. For illustration a rare case of an AOT in the mandible is presented.
Small Bowel Obstruction with Perforation Secondary to PillCam
Authors: Toan Pham, Ashley Miller, Domenic La Paglia, Alvin Cham
Journal: Case Rep Gastrointest Med (2018)
MeSH terms: Case Reports

We present a case of a 63-year-old female who presented with small bowel obstruction and perforation secondary to a retained PillCam®. She initially presented with iron-deficiency anaemia (haemoglobin 44 g/L, ferritin 190 mcg/L). After unremarkable upper and lower gastrointestinal endoscopies and biopsies, she was referred for wireless capsule endoscopy (WCE). Four days afterwards she re-presented with small bowel obstruction and perforation related to the PillCam, which was confirmed on X-ray, on computed topography (CT), and at laparotomy.
Effects of community ambulation training with 3D-printed ankle-foot orthosis on gait and functional improvements: a case series of three stroke survivors
Authors: Ji-Eun Cho, Kyeong-Jun Seo, Sunghe Ha, Hogene Kim
Journal: Front Neurol (2023)
Keywords: 3d printing, ankle-foot-orthosis (afo), community, gait, stair, stroke
MeSH terms: Case Reports

Introduction:
Many of the patients using ankle-foot orthoses (AFOs) experience poor fit, pain, discomfort, dislike of the aesthetics of the device, and excessive range of motion restrictions, which diminish the use of AFOs. Although 3D-printed ankle-foot orthoses (3D-AFOs) affect patient satisfaction and overall gait functions such as ankle moment, joint range of motion (ROM), and temporal-spatial parameters, the material properties and manufacturing process of 3D-AFOs are still diverse; the clinical effects of community ambulation using 3D-AFOs and satisfaction in patients with stroke are poorly understood.
Case description:
Case 1: A 30-year-old man, with a history of right basal ganglia hemorrhage, presented with marked foot drop and genu recurvatum. Case 2: A 58-year-old man, with a history of multifocal scattered infarction, presented with an asymmetrical gait pattern due to abnormal pelvic movement. Case 3: A 47-year-old man, with a history of right putamen hemorrhage, presented with recent poor balance and a prominent asymmetrical gait pattern due to increased ankle spasticity and tremor. All patients could walk independently with AFOs.
Interventions and outcomes:
Gait was assessed under three walking (even, uneven, and stair ascent/descent) and four AFO (no shoes, only shoes, shoes with AFOs, and shoes with 3D-AFOs) conditions. After 4 weeks of community ambulation training with 3D-AFO or AFO, the patients were followed up. Spatiotemporal parameters; joint kinematics; muscle efficiency; clinical evaluations including impairments, limitations, and participation; and patient satisfaction with wearing 3D-AFO were evaluated.
Results and conclusion:
3D-AFOs were suitable for community ambulation of patients with chronic stroke and effective on step length, stride width, symmetry, ankle range of motion, and muscle efficiency during even surface walking and stair ascent in patients with chronic stroke. The 4-week community ambulation training with 3D-AFOs did not promote patient participation; however, it increased ankle muscle strength, balance, gait symmetry, and gait endurance and reduced depression among patients with a history of stroke. The participants were satisfied with 3D-AFO's thinness, lightweight, comfortable feeling with wearing shoes, and gait adjustability.
A large maxillary cemento-ossifying fibroma superimposed with solitary bone cyst documented over 18 years: A case report
Authors: Sarmad Aburas, Patrick Bandura, Ali Al-Ibraheem, Sebastian Berger, Marius Meier, Dritan Turhani
Journal: Int J Surg Case Rep (2020)
Keywords: case report, cemento-ossifying fibroma, fibrous dysplasia, juvenile ossifying fibroma, solitary bone cyst
MeSH terms: Case Reports

Introduction:
Cemento-ossifying fibromas are rare, benign lesions of the head and neck regions. The origin of these lesions can be traced to the periodontal ligament, because its cells are able to form cement, lamellar bone, or fibrous tissue.
Case presentation:
A rare case report of a young Caucasian female with a COF is described including follow-ups. She remained untreated for several years despite early radiographic findings of the lesion without a definitive diagnosis. The patient ultimately underwent radical surgery and the whole lesion was removed. The subsequent histological examination confirmed the clinical diagnosis of a COF. Since then, the patient has been under regular clinical and radiological follow-ups.
Discussion:
This rare case report of a COF, documented over 18 years, shows the importance of consecutive therapy after radiologic and clinical findings, as such lesions continue growing and may subsequently lead to severe medical conditions. Therefore, complete surgical resection of COFs is advised to achieve good results in terms of health and recurrence.
Conclusion:
Long-term follow-up of patients is required as recurrences can occur for up to 10 years following treatment. Well-planned radical and wide surgical resection of these lesions has proven not only to be effective in eliminating the aetiological factors, but can also achieve decent bone regeneration and aesthetic results with almost no deformation in the surgical site.
Zenker's diverticulum: a case report and literature review
Authors: Moawia Elbalal, Abu Baker Mohamed, Anas Hamdoun, Khalid Yassin, Elhadi Miskeen, Osman Khalaf Alla
Journal: Pan Afr Med J (2014)
Keywords: oropharyngeal dysphagia, zenker′s diverticulum, pharyngeal pouch
MeSH terms: Deglutition Disorders / etiology, Zenker Diverticulum / physiopathology, Case Reports, Review, Age Factors, Aged, Humans, Male, Sudan, Zenker Diverticulum / diagnosis, Zenker Diverticulum / therapy

The pharyngeal pouch (Zenker's diverticulum) is a diverticulum of the mucosa of the pharynx, just above the cricopharyngeal muscle (i.e. above the upper sphincter of the oesophagus). It occurs commonly in elderly patients (over 70 year) and the typical symptoms include dysphagia, regurgitation, chronic cough, aspiration and weight loss. We are reporting a case of an oropharyngeal dysphagia due to a Zenker's diverticulum in 75 years old Sudanese man with a chronic history of dysphagia for solids. The pathophysiology of Zenker's diverticulum, clinical presentation, and management are reviewed.
Occurrence of Recurrent Aphthous Stomatitis (RAS) as a Rare Oral Manifestation in a Patient with Gilbert's Syndrome
Authors: Artak Heboyan, Anna Avetisyan, Hans Erling Skallevold, Dinesh Rokaya, Vinay Marla, Anna Vardanyan
Journal: Case Rep Dent (2021)
MeSH terms: Case Reports

Recurrent aphthous stomatitis is an ulcerative disease of the oral cavity and can occur in isolation or as a manifestation of many systemic diseases. It is a quite common entity and may hence often be overlooked as an isolated lesion. Gilbert's syndrome is a genetic disorder where a deficiency of an enzyme associated with the conjugation of bilirubin results in unconjugated hyperbilirubinemia. The disease is generally asymptomatic and is aggravated by certain trigger factors. No associated oral manifestations are known. In this case report, we discuss the concomitant presence of recurrent aphthous stomatitis in a patient of Gilbert's syndrome. The presence of such recurrent stomatitis may represent as an oral manifestation of Gilbert's syndrome. Early identification of these entities may improve the overall quality of life of the patient.
Disappearance of a thrombotic microangiopathy-like glomerular lesion in a patient with a placental site trophoblastic tumor after hysterectomy
Authors: Masato Sawamura, Atsushi Komatsuda, Mizuho Nara, Masaru Togashi, Hideki Wakui, Naoto Takahashi
Journal: Clin Nephrol Case Stud (2018)
Keywords: tma-like lesion, nephrotic syndrome, placental site trophoblastic tumor
MeSH terms: Case Reports

A 32-year-old woman presented with amenorrhea after a normal childbirth and subsequently developed nephrotic syndrome. Renal biopsy showed a thrombotic microangiopathy (TMA)-like glomerular lesion with deposits of immunoglobulins, complements, and fibrinogen. Increased serum levels of the beta subunit of human chorionic gonadotropin, abnormal uterine findings from imaging studies, and endometrial biopsy findings suggested gestational trophoblastic disease. She was diagnosed with a placental site trophoblastic tumor (PSTT) after hysterectomy and, following treatment, her proteinuria disappeared. Follow-up renal biopsy showed the disappearance of the TMA-like lesion. To our knowledge, this is the first case report of the pathological remission of renal disease associated with PSTT.
Long-term survival in extensive-stage small-cell lung cancer treated with different immune checkpoint inhibitors in multiple-line therapies: A case report and literature review
Authors: Xu Zhang, Jiabin Zheng, Yun Niu, Chongxiang Xue, Yixuan Yu, Kexin Tan, Huijuan Cui
Journal: Front Immunol (2022)
Keywords: es-sclc, icis, combined regimens, long-term survival, re-challenge
MeSH terms: Lung Neoplasms / pathology, Small Cell Lung Carcinoma / drug therapy, Small Cell Lung Carcinoma / pathology, Review, Case Reports, Research Support, Non-U.S. Gov't, Disease Progression, Humans, Immune Checkpoint Inhibitors / therapeutic use, Immunotherapy, Middle Aged, Immune Checkpoint Inhibitors

Background:
Extensive-stage small-cell lung cancer (ES-SCLC) is highly malignant, is highly prone to recurrence, and has a short survival period. It is very difficult to achieve long-term survival in ES-SCLC, which has not been significantly improved in the last 20 years. For a long time, platinum-based chemotherapy has occupied the core position in the treatment of small-cell lung cancer (SCLC), but there are few options for treatment drugs or regimens, and if disease progression occurs, the options for follow-up regimens are obviously limited. The advent of immunotherapy has changed this situation to some extent, and immunotherapy has shown some effects in improving efficiency and prolonging survival, whether in first- or third-line therapy, but it is still unsatisfactory.
Case presentation:
A 57-year-old patient with ES-SCLC experienced disease progression after four lines of treatment including synchronous radiotherapy, chemotherapy, and antiangiogenesis. However, the patient still benefited when switching to the programmed cell death receptor-1 (PD-1) inhibitor toripalimab in combination with chemotherapy in the fifth line. Even after the development of immune resistance, the patient still benefited after switching to tislelizumab in combination with different chemotherapy regimens or alone in the sixth and seventh lines. Following the progression of tislelizumab in combination with chemotherapy, the patient again profited after switching to durvalumab in combination with anlotinib and again achieved a progressive-free survival (PFS) of 11 months. Overall, the patient achieved a total of 45 months of PFS and 50 months of overall survival (OS), with a shocking and exciting 30 months of PFS achieved in the immune combination phase alone.
Conclusion:
We report a patient with ES-SCLC who achieved long-term survival after at least eight lines of therapy including chemotherapy, antiangiogenesis, and different immune checkpoint inhibitors (ICIs). This suggests that long-term survival in SCLC is possible with aggressive, combined, and standardized treatment. Otherwise, immunotherapy postline enablement can still benefit patients, rechallenge after immune resistance is also possible in SCLC, and combination with chemotherapy or antiangiogenic therapy can improve the efficacy and prolong the survival. This will provide new ideas and options for the selection of treatment options for SCLC.
Unilateral sublingual salivary gland hypertrophy with herniation through a boutonniére defect and contralateral sublingual gland hypoplasia
Authors: Zenab Arooj Sher, Garryck Tan
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

A 74-year-old male attended our ear, nose and throat clinic with left-sided otalgia. MRI highlighted an area of abnormal signal in the region of the right mylohyoid muscle in the floor of the oral cavity. The patient was called back for a post-contrast MRI scan for clarification. Post-contrast MRI demonstrated a left-sided hypoplastic sublingual salivary gland and a hypertrophied right-sided sublingual salivary gland. The left sublingual gland hypoplasia had resulted in compensatory hypertrophy of the contralateral (right) sublingual salivary gland, extending through the mylohyoid gap or "boutonnière defect". This is a common incidental variant often encountered in radiological imaging. This is the only report of a case of contralateral compensatory hypertrophy of sublingual salivary gland, as all the others have reported ipsilateral hypertrophy of either submandibular salivary glands.
Hemifacial spasm caused by unruptured fusiform vertebral aneurysm treated with endovascular coil embolization: a case report
Authors: Pengchen He, Zongping Li, Han Jiang
Journal: Front Neurol (2023)
Keywords: fusiform aneurysm, hemifacial spasm, lateral spread response, occlusion, vertebral artery
MeSH terms: Case Reports

Hemifacial spasm due to fusiform aneurysm of the vertebral artery is extremely rare. The lateral spread response (LSR) is routinely used to monitor hemifacial spasms during microvascular decompression to predict the degree of postoperative remission of hemifacial spasm. We report a case of hemifacial spasm caused by an unruptured fusiform vertebral aneurysm treated with intravascular intervention and monitoring of LSR. A 59-year-old man was admitted to the hospital with a left facial spasm that gradually worsened for 1 year. Preoperative cerebrovascular angiography indicated fusiform aneurysms in the intracranial segment of the left vertebral artery close to the left facial nerve. The patient underwent parent artery occlusion and aneurysm embolization, and LSR was monitored intraoperatively. After intraoperative aneurysm embolization, LSR disappeared immediately. The postoperative review of cerebrovascular angiography indicated that the parent artery and aneurysm were embolized successfully, and the patient's left facial spasm was relieved after surgery. Hemifacial spasm caused by the vertebral artery fusiform aneurysm can be safely and effectively treated by parent artery occlusion and aneurysm embolization. Meanwhile, intraoperative LSR monitoring can be used to predict postoperative efficacy.
Acute Myelogenous Leukemia with the t(7;7)(p15;p22) Translocation, a Novel Simple Variant of t(7;11)(p15;p15) Translocation: First Description
Authors: Motoharu Shibusawa
Journal: Case Rep Hematol (2021)
MeSH terms: Case Reports

The t(7;11)(p15;p15) translocation is a recurrent genetic abnormality associated with acute myelogenous leukemia (AML). The translocation results in a fusion between the nucleoporin 98 and homeobox genes. We describe a case of AML with t(7; 7)(p15;p22) translocation, which is a novel simple variant of the t(7;11)(p15;p15) translocation. A 66-year-old woman presented with subcutaneous hemorrhage in both forearms. Laboratory test revealed hyperleukocytosis (white blood cell count: 97,800 cells/µL (blasts, 51.0%)), anemia (hemoglobin level: 7.6 g/dL), thrombocytopenia (platelet count: 6.5 × 104/μL), and hyperfibrinolysis (elevated d-dimer level: 12.4 µg/mL; fibrin/fibrinogen degradation products: 26.9 µg/mL). The patient was diagnosed with AML; the blast morphology was unclassifiable according to the French-American-British classification. Flow cytometry CD45 gating revealed that the blasts expressed CD34, CD13, CD33, and CD117. G-banding of tumor cells revealed the t(7;7)(p15;p22) translocation [20/20]. The patient underwent chemotherapy. At 48 days of admission, the patient died of multiple organ failure. The t(7;7)(p15;p22) translocation involved chromosome 7p15, indicating its association with the homeobox genes. To the best of our knowledge, this is the first report of a patient with AML with the t(7;7)(p15;p22) translocation, which is a simple novel variant of the t(7;11)(p15;p15) translocation.
Tuberous Sclerosis and Bilateral Renal Angiomyolipomas: A Case Report and Literature Review of Emerging Treatment Strategies
Authors: Francois Jo-Hoy, Omar Tolaymat, Ryan Kunjal, Leighton R James
Journal: Case Rep Nephrol (2016)

Tuberous sclerosis complex is a rare multisystemic genetic disorder associated with the development of benign hamartomas. Angiomyolipomas are one such characteristic finding that may be seen in 55-80% of tuberous sclerosis complex patients. While being normally asymptomatic, they can also cause significant morbidity and mortality. We present the case of a patient with tuberous sclerosis complex and recently discovered bilateral renal angiomyolipomas, admitted for hematuria who underwent left renal artery embolization; however, worsening renal function necessitated subsequent nephrectomy. Despite still being mainstays of treatment, invasive interventions are now being recommended for specific patient populations as demonstrated in our case. Emerging strategies targeting the PI3K/AKT/mTOR pathway have been shown to reduce the size of angiomyolipomas and are now used to treat asymptomatic cases >3 cm. Our review discusses these treatment options with the intention of increasing awareness of current recommendations and hopefully leading to increased application of these novel therapies that will reduce the need for invasive interventions.