OpenMed/multicare-articles huggingface dataset:
Rehabilitation of Posterior Maxilla with Obturator Supported by Zygomatic Implants
Authors: Sankalp Mittal, Manoj Agarwal, Debopriya Chatterjee
Journal: Case Rep Dent (2018)
MeSH terms: Case Reports

Prosthetic rehabilitation of atrophic maxilla and large maxillary defects can be done successfully by zygomatic implant-supported prosthesis. Zygomatic implants are an avant-garde to complex and invasive-free vascularised osteocutaneous flaps, distraction osteogenesis, and the solution to flap failures. A treated case of tuberculous osteomyelitis, with a class II (Aramany's classification) maxillary defect, reported to oral maxillofacial department, Government Dental College (RUHS-CODS). The defect in this group was unilateral, retaining the anterior teeth. The patient was previously rehabilitated with a removable maxillary obturator. Inadequate retention affected essential functions like speaking, mastication, swallowing, esthetics, and so on due to lack of sufficient supporting tissues. A fixed prosthetic rehabilitation of posterior maxillary defect was done with obturator supported with two single-piece zygomatic implants. At 1-year follow-up, the patient was comfortable with the prosthesis, and no further complaints were recorded.
Targeted Next-Generation Sequencing Identified Compound Heterozygous Mutations in MYO15A as the Probable Cause of Nonsyndromic Deafness in a Chinese Han Family
Authors: Longhao Wang, Lin Zhao, Hu Peng, Jun Xu, Yun Lin, Tao Yang, Hao Wu
Journal: Neural Plast (2020)
MeSH terms: Cochlear Implantation, Deafness / genetics, Mutation, Myosins / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adolescent, Audiology, China, Deafness / diagnostic imaging, Deafness / surgery, High-Throughput Nucleotide Sequencing, Humans, Magnetic Resonance Imaging, Male, Pedigree, Tomography, X-Ray Computed, MYO15A protein, human, Myosins, Nonsyndromic Deafness

Hearing loss is a highly heterogeneous disorder, with more than 60% of congenital cases caused by genetic factors. This study is aimed at identifying the genetic cause of congenital hearing loss in a Chinese Han family. Auditory evaluation before and after cochlear implantation and targeted next-generation sequencing of 140 deafness-related genes were performed for the deaf proband. Compound heterozygous mutations c.3658_3662del (p. E1221Wfs∗23) and c.6177+1G>T were identified in MYO15A as the only candidate pathogenic mutations cosegregated with the hearing loss in this family. These two variants were absent in 200 normal-hearing Chinese Hans and were classified as likely pathogenic and pathogenic, respectively, based on the ACMG guideline. Our study further expanded the mutation spectrum of MYO15A as the c.3658_3662del mutation is novel and confirmed that deaf patients with recessive MYO15A mutations have a good outcome for cochlear implantation.
Unusual Case of Metastatic Gastrointestinal Adenocarcinoma to the Cervical Spine without a Detectable Primary Source in a Patient with Acquired Immunodeficiency Syndrome: A Case Report
Authors: Paul E Kaloostian, Marc Barry, James Fred Harrington
Journal: Case Rep Surg (2012)

The authors report a case of metastatic gastrointestinal adenocarcinoma to the cervical spine in a patient with acquired immunodeficiency syndrome (AIDS) being treated with antiretroviral therapy. The source of this tumor could not be identified despite a thorough evaluation. A 49-year-old male being treated for AIDS presents with worsening neck pain and left distal arm weakness. MRI demonstrated an erosive mass within the cervical four vertebral body extending through the pedicle on the left side. Patient underwent needle biopsy followed by combined anterior and posterior fusion procedures. Pathology demonstrated metastatic gastrointestinal adenocarcinoma without known primary origin. He is currently undergoing palliative radiotherapy. This is an unusual case of metastatic gastrointestinal adenocarcinoma to the cervical spine. This should be included on the differential diagnosis of spinal lesions in this patient population and may represent a unique tumor in patients with HIV/AIDS who are on immunosuppressive therapy.
Endometriosis Mimicking a Cecum Mass with Complete Bowel Obstruction: An Infrequent Cause of Acute Abdomen
Authors: Gabriel A Molina, Darwin R Ramos, Alberto Yu, Patricio A Paute, Paul S Llerena, S Alexandra Valencia, Jose V Fonseca, Jhonatan F Morillo, Sandra C López, Bernardo M Gutierrez
Journal: Case Rep Surg (2019)
MeSH terms: Case Reports

Endometriosis is a common entity among fertile women which unfortunately manifests through variable symptomatology. Intestinal involvement in endometriosis is quite common and can simulate several diseases such as Crohn's disease, appendicitis, tubo-ovarian abscess, or malignant tumors. Intestinal obstruction due to endometriosis is rare, and preoperative diagnosis is difficult because the signs and symptoms are nonspecific and can be easily confused. In the case of patients without a history of endometriosis, diagnosis is further complicated. We present a case of a 41-year-old female patient. She presented to the emergency room with complete bowel obstruction and a mass in the cecum. Surgery was decided, and the patient underwent full recovery. Endometriosis was the final diagnosis for the observed condition.
Pregnancy in Noncommunicating Rudimentary Horn of Unicornuate Uterus: A Case Report and Review of the Literature
Authors: Melese Gezahegn Tesemma
Journal: Case Rep Obstet Gynecol (2019)
MeSH terms: Case Reports

Pregnancy implanted in the rudimentary horn of unicornuate uterus is very rare with an incidence of 1 in 75,000 to 1 in 150,000 pregnancies. Both prerupture and postrupture diagnosis of ectopic pregnancy in the rudimentary horn of a unicornuate uterus is difficult. Here is a case of a 21-year-old gravida 5 para 3 abortion 1 mother presented with abdominal pain of 2 days duration following a falling accident. The patient was severely anemic and was in hypovolemic shock at the time of presentation. She had diffused lower abdominal tenderness with hemoperitonium. After clinical and ultrasound evaluation, emergency laparotomy was decided for preop diagnosis of ruptured cornual ectopic pregnancy to rule out uterine rupture at gestational age of 16 weeks. Intraoperatively, ruptured ectopic pregnancy in noncommunicating rudimentary horn was diagnosed. Resection of rudimentary horn and ipsilateral salpingectomy was done. She was transfused with 5 units of compatible blood. It is better to increase awareness about pregnancy occurring in this rare uterine anomaly, so as to have a high index of suspicion as early detection before it gets ruptured is difficult.
An unusual contrast-induced encephalopathy following percutaneous coronary intervention in patients with cerebrovascular abnormalities: A case report
Authors: Jiangquan Liao, Yan Wang, Mingjing Shao, Yanling Wang, Jinhang Du, Xianlun Li, Peng Yang, Dongliang Fu, Zhe Dong, Mengru Liu
Journal: Front Cardiovasc Med (2022)
Keywords: blood-brain barrier, cerebrovascular abnormalities, contrast-induced encephalopathy, hypothyroidism, percutaneous coronary intervention
MeSH terms: Case Reports

Introduction:
Contrast-induced encephalopathy (CIE) is a complication associated with the administration of iodinated contrast, which usually happens minutes to hours after contact with contrast, and fully recovers within 72 h. The clinical manifestations of CIE are diverse, and the pathological mechanism is not explicit.
Methods:
We report the case of a 66-year-old female who suffered from a delayed CIE following the administration of iodinated contrast agent. Symptoms were severe. Imaging examination, biochemical and etiological detection were performed timely. The course of neurological symptoms was atypical. Her complex complications of hypothyroidism and cerebrovascular abnormalities contributed to more challenges, which were also clues to the diagnosis. With prompt and active treatment, the patient recovered fully over 10 days.
Discussion:
The diagnosis standard of CIE highly depends on the association with the contact of contrast and the exclusion of other nervous system diseases. Complicated clinical circumstances and individual specificity can lead to different clinical manifestations of CIE, making it even more difficult to diagnose and treat. Prompt and dynamic imaging examination would provide great value in the diagnosis and evaluation of CIE. Timely diagnosis and intervention may be the key to its satisfying prognosis.
Acquired haemophilia a in the elderly: case reports
Authors: Antonella Tufano, Antonio Coppola, Anna Guida, Ernesto Cimino, Angela Maria De Gregorio, Anna Maria Cerbone, Giovanni Di Minno
Journal: Curr Gerontol Geriatr Res (2010)
MeSH terms: Case Reports

Acquired hemophilia A (AHA) is a very rare disease, caused by the development of autoantibodies, directed against circulating factor VIII of coagulation. Age distribution is bimodal, with a first peak occurring among young women in the postpartum period, and a second major peak of incidence among elderly patients in whom it is frequently associated with malignancy and drugs. This disease often represents a life-threatening bleeding condition, especially in the elderly, thus requiring a prompt therapeutic intervention, including control of acute bleeding and eradication of the inhibitor by immunosuppressive therapy. The diagnosis of AHA should be considered in any elderly patient who presents with bleeding and prolonged activated Partial Thromboplastin Time. Moreover, the coexistence of a series of underlying diseases associated with AHA should be always searched for. An early recognition and an adequate treatment of this coagulation disorder and of the possible associated diseases play a significant role for a favourable outcome, but concomitant morbidities in the elderly may limit aggressive therapy and may complicate the clinical scenario. We report 3 consecutive elderly patients successfully treated with recombinant activated factor VII and standard immunosuppressive regimens, with remission of the disease.
IgG4-related inflammatory pseudotumor of the renal pelvis involving renal parenchyma, mimicking malignancy
Authors: Ho Gyun Park, Kyoung Min Kim
Journal: Diagn Pathol (2016)
MeSH terms: Granuloma, Plasma Cell / diagnosis, Immunoglobulin G / analysis, Kidney Diseases / diagnosis, Kidney Neoplasms / diagnosis, Kidney Pelvis / immunology, Case Reports, Aged, Biopsy, Diagnosis, Differential, Granuloma, Plasma Cell / immunology, Granuloma, Plasma Cell / pathology, Granuloma, Plasma Cell / surgery, Humans, Immunohistochemistry, Incidental Findings, Kidney Diseases / immunology, Kidney Diseases / pathology, Kidney Diseases / surgery, Kidney Pelvis / pathology, Kidney Pelvis / surgery, Male, Nephrectomy, Predictive Value of Tests, Tomography, X-Ray Computed, Immunoglobulin G

Background:
IgG4-related disease is a recently recognized systemic disease characterized by storiform fibrosis with infiltration of IgG4-positive plasma cells. In rare incidences, IgG4-related renal disease can present as a solitary mass lesion at renal pelvis and can pose a diagnostic challenge since these lesions mimic malignancy. Herein, we present a rare case of IgG4-related disease presenting as inflammatory pseudotumor lesion, involving the renal pelvis and also neighboring renal parenchyma.
Case presentation:
A 75-year-old man with no history of IgG4-related disease underwent computed tomography (CT) scan for evaluation of prostatic cancer. The CT scan incidentally revealed a mass lesion located at the right renal pelvis. Radiologic findings were highly suggestive of malignancy. Therefore, the patient underwent right nephroureterectomy. Microscopically, the mass lesion showed storiform fibrosis with diffuse and intense inflammatory cell infiltration. Infiltrating cells were mainly histiocytes and plasma cells. Tubulointerstitium adjacent to the lesion also showed fibrosis with abundant plasmacytic infiltration. Immunohistochemical staining revealed the presence of IgG4-positive plasma cells in both the mass lesion and tubulointerstitium (mean of 94/HPF per field).
Conclusion:
Considering these findings, we diagnosed the mass lesion as IgG4-related inflammatory pseudotumor of the renal pelvis. In patients with renal pelvic masses, IgG4-related inflammatory pesudotumor should be considered in the differential diagnosis to avoid unnecessary surgical intervention.
C1 posterior arch screw as an auxiliary anchor in posterior reconstruction for atlantoaxial dislocation associated with type II odontoid fracture: a case report and review of the literature
Authors: Narihito Nagoshi, Kota Suda, Tomonori Morita, Satoko Matsumoto, Seiji Iimoto, Keigo Yasui, Miki Komatsu, Yosuke Kobayashi, Akio Minami, Yoshiaki Toyama, Morio Matsumoto, Masaya Nakamura
Journal: Springerplus (2014)
Keywords: atlantoaxial dislocation, odontoid fracture, posterior arch screw, vertebral artery injury

Introduction:
Although pedicle or lateral mass screws are usually chosen to fix atlantoaxial (C1-C2) instability, there is an increased risk for vertebral artery (VA) injury when used in patients with bone or arterial anomalies or osteoporotic bone. Here we report the C1 posterior arch screw as a new technique for upper cervical fixation.
Case description:
A 90-year-old man complained of upper cervical pain after falling in his house. The initial computed tomography (CT) scan showed C1-C2 posterior dislocation with a type II odontoid fracture. The patient underwent C2 fracture reduction and posterior C1-C2 fixation. On the right side of C1, because lateral mass screw placement could cause injury to the dominant VA considering a risk in oldest-old osteoporotic patients, a posterior arch screw was chosen instead as an auxiliary anchor. An intralaminar screw was placed on the right side of C2 because a high-riding VA was observed. A lateral mass screw and a pars interarticularis screw were placed on the left side of C1 and C2, respectively. Ten months later, the odontoid fracture had healed, with normal anatomical alignment. Although the patient experienced slight weakness when spreading his bilateral fingers, his overall condition was good.
Discussion and evaluation:
We have presented a novel technique using C1 posterior arch screws for the fixation of a C1-C2 dislocation. Such a screw is an alternative to the C1 lateral mass screw in patients who are at risk for a VA injury because of anomalous bone and arterial structures or poor bone quality.
Conclusions:
Although there have been few comparable studies, and the long-term outcome is unknown, fixation with a posterior arch screw could be a beneficial choice for surgeries involving the upper cervical region.
Clinical, Radiological, and Genetic Profile of Spinocerebellar Ataxia 12: A Hospital-Based Cohort Analysis
Authors: Valakunja Harikrishna Ganaraja, Vikram V Holla, Albert Stezin, Nitish Kamble, Ravi Yadav, Meera Purushottam, Sanjeev Jain, Pramod Kumar Pal
Journal: Tremor Other Hyperkinet Mov (N Y) (2022)
Keywords: ataxia, spinocerebellar ataxia type 12, tremors, trinucleotide repeats
MeSH terms: Spinocerebellar Ataxias / diagnostic imaging, Spinocerebellar Ataxias / genetics, Tremor / diagnostic imaging, Tremor / genetics, Case Reports, Ataxia, Cohort Studies, Female, Genetic Profile, Hospitals, Humans, Male, Nerve Tissue Proteins / genetics, Retrospective Studies, Nerve Tissue Proteins, Spinocerebellar Ataxia 12

Introduction:
Spinocerebellar ataxia type-12 (SCA12) is a rare form of SCA, most commonly reported from the Indian Agarwal and related families. In this study we describe the clinical, genetic, and radiological characteristics of a sizeable cohort of genetically proven SCA12.
Methods:
A retrospective chart-review of the genetically confirmed SCA12 patients from our centre. The demographic, clinical, and investigation findings were reviewed. Correlation of expanded repeats length with various demographic and clinical features were studied.
Results:
A total of 49 patients (34 males, 42 families) were included of which 79.6% belonged to Agarwal community. The mean age at onset and age at presentation were 46.38 ± 11.7 years and 53.16 ± 12.78 years respectively. The most common initial symptom was tremor (73.5%), followed by ataxia (18.4%). At presentation, 95.9% of the patients had tremor with predominant distribution in the bilateral upper limbs (85.7%). At presentation, 73.5% of patients had ataxia and 22.4% had cognitive dysfunction. The mean CAG repeat length in PPP2R2B in the expanded allele was 53.26 ± 6.10 (40-72). The lowest pathogenic expanded repeat sizes in PPP2R2B recorded in our cohort was 40 & 42 repeats from two patients with a consistent clinical phenotype. Another unusual phenotype was the presence of prominent myoclonus. There was no significant correlation between the age at onset of symptoms and the repeat size of CAG repeat.
Conclusion:
SCA12 is not confined to a single ethnicity. Upper limb tremor and ataxia were the most common presentation. Unusual presentation may cause diagnostic confusion especially when recorded in patients from non-Aggarwal families.
A Case Report of Thalamic Infarction after Lumbar Drain: A Unique Cause of Perioperative Stroke?
Authors: Daniel N Kianpour, Thomas M Nguyen, Arthur M Lam
Journal: Case Rep Anesthesiol (2019)
MeSH terms: Case Reports

In the case presented, a patient has an unexplained episode of hypertension during aneurysm clipping. Following the procedure, the patient was discovered to have bilateral thalamic infarctions unrelated to the vascular location of the aneurysm. After a review of the case, it becomes apparent that intracranial hypotension caused by lumbar over drainage of cerebrospinal fluid (CSF) is the likely cause of both the episode of intraoperative hypertension and the thalamic infarcts. It is often presumed that having an open dura protects against intracranial hypotension and subsequent herniation. We present this case to suggest that opening the dura might not be protective in all cases and anesthesiologists must pay particular attention to the rate of CSF drainage. Lumbar CSF drainage is a technique frequently employed during neurological surgery and it is important for anesthesiologists to understand the signs, symptoms, and potential consequences of intracranial hypotension from rapid drainage.
Case Report: Multiple hemorrhagic metastases to the brain from primary lung choriocarcinoma
Authors: Sunil Munakomi
Journal: F1000Res (2017)
Keywords: brain, choriocarcinoma, lung, metastasis, primary

Herein we report a very rare entity of multiple hemorrhagic metastases to the brain from a primary lung choriocarcinoma in a young woman. The patient presented with recent onset of progressive headache, decreased level of consciousness and multiple episodes of vomiting. CT of the head revealed multiple hemorrhagic lesions within the brain. The patient's serum B-human chorionic gonadotrophin was increased. A chest X-ray revealed a right lung mass. The patient urgently underwent operative excision of the lesion in the posterior fossa, so as to prevent impending tonsillar herniation. The histology from the lesion provided the diagnosis of choriocarcinoma. After surgery, ultrasonography of the abdomen and pelvis was normal, and a chest CT revealed an enhanced and highly vascular right apical lung lesion, suggestive of lung primary choriocarcinoma, with regard to the clinical background. The patient was then started on chemotherapy, following which her serum B-HCG level decreased rapidly. This case highlights the importance of keeping this entity in the differential diagnosis of hemorrhagic lesions in any patients of a child bearing age. Early diagnosis and rapid initiation of multimodal therapy is prudent for ensuring a good outcome from an otherwise rapidly metastasizing and highly vascular lesion.
Functional elbow range of motion 6 months after contracture release and ORIF K-wire in elbow stiffness with malunion capitellum and neglected radial head and ulnar dislocation: a case report
Authors: Wahyu Widodo, M Ade Refdian, Ajiantoro
Journal: Int J Surg Case Rep (2019)
Keywords: contracture release, elbow stiffness, functional elbow range of motion, malunion capitellum fracture, neglected dislocation of radial head and ulnar

Introduction:
Elbow stiffness is the most common complication following trauma of the elbow. This is because the elbow joint is susceptible to effusion, hemarthrosis, scarring, and capsule thickening due to its small intracapsular volume. Surgical treatment is therefore necessary to release soft tissue contracture.
Case:
A male teenager was unable to flex his elbow since 1 year prior to admission after falling down during football practice. He didn't seek any medical treatment and had his elbow massaged since 5 months ago. On physical examination, his right elbow was extended, with flexion-extension range of motion (ROM) of 300 - 00. On the radiograph, there was malunion fracture of left capitellum and neglected posterosuperior dislocation of radial head and ulna. Surgery was performed to release contracture and correct the malunion. Normal activity with functional elbow flexion-extension ROM of 1100 - 300 was achieved in 6 months after operation.
Discussion:
Elbow stiffness is a challenging case for surgeon, especially in regards of developing good perioperative plan. The aim of treatment for elbow stiffness is to achieve a pain-free and functional elbow ROM.
Conclusion:
To achieve functional elbow ROM, surgical treatment was necessary to release the contracture. In addition, the etiology of trauma must be thoroughly investigated and a good rehabilitation program must be integrative to the treatment.
Truths and Lies from the Polysomnography ECG Recording: An Electrophysiologist Perspective
Authors: Adrian Baranchuk, Christina Quinlan, Kevin Michael, Christopher S Simpson, Damian P Redfearn, Michael Fitzpatrick
Journal: Case Rep Med (2009)
MeSH terms: Case Reports

Polysomnography remains the gold standard for diagnosis of Sleep Apnea (SA) and evaluation of the apnea/hypopnea index (AHI) which is used as the primary index of SA severity. The electrocardiogram (typically a single lead) obtained during the polysomnographic study is usually used to report the association between SA and cardiac rhythm disturbances. These findings help in guiding medical decisions but they could also represent a source for confusion. Electrophysiologists are frequently consulted to determine whether interventions need to be taken. We present 2 cases where the ECG during a polysomnography study required the intervention of an electrophysiologist to help with management.
Acute aortic dissection type A discloses Corpus alienum
Authors: Aron Frederik Popov, Mersa Mohammed Baryalei, Jan Dieter Schmitto, Jose Hinz, Christoph Hermann Wiese, Björn Raab, Philipp Kolat, Friedrich Albert Schoendube, Ralf Seipelt
Journal: J Cardiothorac Surg (2009)
MeSH terms: Aortic Aneurysm, Thoracic / complications, Aortic Dissection / complications, Foreign Bodies / complications, Case Reports, Aortic Aneurysm, Thoracic / diagnostic imaging, Aortic Aneurysm, Thoracic / surgery, Aortic Dissection / diagnostic imaging, Aortic Dissection / surgery, Female, Foreign Bodies / surgery, Humans, Middle Aged, Radiography, Reoperation, Treatment Outcome

We report an unusual case of an aortic type A dissection with a corpus alienum which compresses the right ventricle. The patient successfully underwent an aortic root replacement in deep hypothermia with re-implantation of the coronary arteries using a modified Bentall procedure and the resection of the corpus alienum. Intraoperative finding reveals 3 greatly adhered gauze compresses, which were most likely forgotten in the operation 34 years ago.