OpenMed/multicare-articles huggingface dataset:
Esthetic Rehabilitation with Direct Composite Resin in a Patient with Amelogenesis Imperfecta: A 2-Year Follow-Up
Authors: Nathaly Stephania Palacios Rizzo, Leonardo Fernandes da Cunha, Bruno Vinueza Sotelo, Carla Castiglia Gonzaga, Gisele Maria Correr, Ubiracy Gaião
Journal: Case Rep Dent (2019)
MeSH terms: Case Reports

Amelogenesis imperfecta is a group of conditions caused by over 15 different genes that affects the development of dental enamel and poses some challenges to dentists. An adult patient with amelogenesis imperfecta with severe changes in tooth color and reduction of occlusal vertical dimension sought dental treatment. Diagnostic wax-up was carried out to guide the stratification of a nanoparticulate resin for the restorative treatment. Direct composite resin restorations were applied on all teeth for modification of both esthetics and occlusion. After a 2-year follow-up, the findings appear to suggest that composite resin is a low-cost alternative when compared with indirect ceramic restorations, provides a good esthetic outcome, and offers considerable longevity for cases like the one reported herein.
Case Report: Complete pathologic response to neoadjuvant selpercatinib in a patient with resectable early-stage RET fusion-positive non-small cell lung cancer
Authors: Jonathan W Goldman, Lynette M Sholl, Sanja Dacic, Michael C Fishbein, Yonina R Murciano-Goroff, Ravi Rajaram, Sylwia Szymczak, Anna M Szpurka, Bo H Chao, Alexander Drilon
Journal: Front Oncol (2023)
Keywords: nsclc, ret fusion, case report, major pathologic response, neoadjuvant, pathologic complete response, selective ret inhibitor
MeSH terms: Case Reports

The LIBRETTO-001 trial demonstrated the activity of the selective rearrangement during transfection (RET) inhibitor selpercatinib in advanced RET fusion-positive non-small cell lung cancer (NSCLC) and resulted in the drug's approval for this indication. A cohort that included neoadjuvant and adjuvant selpercatinib was opened on LIBRETTO-001 for early-stage RET fusion-positive NSCLC with the primary endpoint of major pathologic response. A patient with a stage IB (cT2aN0M0) KIF5B-RET fusion-positive NSCLC received 8 weeks of neoadjuvant selpercatinib at 160 mg twice daily followed by surgery. While moderate regression in the primary tumor (stable disease, Response Evaluation Criteria in Solid Tumors (RECIST) guidelines version 1.1) was observed radiologically, assessment via an Independent Pathologic Review Committee revealed a pathologic complete response (0% viable tumor). This consensus assessment by three independent pathologists was aided by RET fluorescence in situ hybridization testing of a reactive pneumocyte proliferation showing no rearrangement. Neoadjuvant selpercatinib was well-tolerated with only low-grade treatment-emergent adverse events. The activity of prospective preoperative selpercatinib in this case establishes proof of concept of the potential utility of RET inhibitor therapy in early-stage RET fusion-positive NSCLC.
Deep brain stimulation in posterior subthalamic area for Holmes tremor: Case reports with review of the literature
Authors: Hikaru Kamo, Genko Oyama, Masanobu Ito, Hirokazu Iwamuro, Atsushi Umemura, Nobutaka Hattori
Journal: Front Neurol (2023)
Keywords: holmes tremor (ht), cerebellothalamic tract, cortico-basal ganglia loops, deep brain stimulation, posterior subthalamic area
MeSH terms: Case Reports

Background:
Holmes tremor (HT) is a refractory tremor associated with cortico-basal ganglia loops and cerebellothalamic tract abnormalities. Various drug treatments have been attempted; however, no treatment method has yet been established. Historically, thalamic deep brain stimulation (DBS) has been performed in medically refractory cases. Recently, the posterior subthalamic area (PSA) has been used for HT. Here, we report cases of HT and review the effectiveness and safety of PSA-DBS for HT.
Cases:
We conducted a retrospective chart review of two patients with HT who underwent PSA-DBS. Improvement in tremors was observed 1 year after surgery without apparent complications.
Literature review:
We identified 12 patients who underwent PSA-DBS for HT, including our cases. In six patients, PSA was targeted alone; for the rest, the ventralis intermediate nucleus (Vim) of the thalamus and PSA were simultaneously targeted. The Fahn-Tolosa-Marin Tremor Rating Scale improvement rates were 56.8% (range, 33.9-82.1%; n = 6) and 77.8% (range, 42.6-100%; n = 5) for the PSA-DBS and PSA+Vim-DBS, respectively.
Conclusion:
Reasonable improvements in HT were observed after PSA-DBS. PSA might be an appropriate target for improving the symptoms of HT. Long-term observations, accumulation of cases, and randomized studies are required in future.
Case Report: Mitochondrial Encephalomyopathy Presents as Epilepsy, Ataxia, and Dystonia With a Rare Mutation in MT-TW
Authors: Shuang Wang, Jing Miao, Jiachun Feng
Journal: Front Neurol (2021)
Keywords: mt-tw, ataxia, dystonia, epilepsy, mitochondrial encephalomyopathy
MeSH terms: Case Reports

Mitochondrial diseases are a group of common inherited disorders caused by mutations in nuclear DNA or mitochondrial DNA (mtDNA); the clinical phenotype of diseases caused by mutant mtDNA is challenging owing to heteroplasmy of mtDNA and may delay diagnosis and treatment. Herein, we report the case of an adult male who slowly developed epilepsy, ataxia, dystonia, impaired cognition, and hearing impairment over 14 years in the absence of clinical myopathy. His lactate level was normal. Brain computed tomography showed calcifications of the bilateral basal ganglia, thalamus, and cerebellar dentate nuclei. Magnetic resonance imaging revealed multiple lesions in the bilateral internal capsule and periventricular areas, which were hypointense on T1-weighted images and hyperintense on T2-weighted images. The first blood genetic test result was negative. Two years later, a muscle biopsy was performed. Succinate dehydrogenase (SDH) staining showed several ragged blue fibers and atypical strongly SDH-reactive vessels. Cytochrome C oxidase (COX) staining revealed abundant COX-deficient fibers. mtDNA testing of blood and muscle revealed a rare m.5549G>A mutation in the MT-TW gene. It was heteroplasmic, with 5.4% mutant mtDNA in the blood and 61.5% in the muscle. The patient was diagnosed with mitochondrial encephalomyopathy and treated with levetiracetam instead of valproate to reduce possible mitochondrial toxicity. After receiving anti-epileptic drugs and mitochondrial supplements, the patient remained clinically stable. For mitochondrial disease, when mutant mtDNA is not detected in blood, muscle biopsy should be performed in routine analysis, and it should be genetically tested, even if there are no manifestations of myopathy.
Scaphoid Waist Nonunion in an 8-Year-Old: A Rare Occurrence
Authors: T M Gause 2nd, T E Moran, J B Carr, D N Deal
Journal: Case Rep Orthop (2019)
MeSH terms: Case Reports

Case:
Historically, the most common pattern of pediatric scaphoid injury described is at the distal pole, which has a high rate of success with nonoperative management. Injury patterns have evolved as children are more commonly presenting with adult-type fracture patterns. We present the case of a scaphoid waist fracture in an 8-year-old male that resulted in nonunion and required surgical fixation.
Conclusion:
This case highlights the trend of adult pattern scaphoid fractures in the pediatric population and the utility of magnetic resonance imaging in patients who do not have complete carpal bone ossification at the time of initial radiographic evaluation.
Combined resection of the gastroduodenal artery without revascularization in distal pancreatectomy with en bloc celiac axis resection (extended DP-CAR) for pancreatic cancer: A case report
Authors: Atsushi Tomioka, Mitsuhiro Asakuma, Nao Kawaguchi, Koji Komeda, Tetsunosuke Shimizu, Sang-Woong Lee
Journal: Int J Surg Case Rep (2023)
Keywords: case report, dp-car, extended dp-car, gastroduodenal artery, locally advanced pancreatic cancer
MeSH terms: Case Reports

Introduction:
Distal pancreatectomy with en bloc celiac axis resection (DP-CAR) is performed to remove locally advanced pancreatic cancer (LAPC) that involves the celiac axis (CA), the common hepatic artery (CHA), or the root of the splenic artery (SpA). It is not usually applied to LAPC involving both the CA and the gastroduodenal artery (GDA) because transection of the GDA cannot assure hepatic perfusion. Preserving the replaced hepatic artery might allow combined resection of the GDA without revascularization.
Presentation of case:
A 78-year-old woman who was diagnosed with LAPC of the pancreatic head and body that invaded the GDA and proper hepatic artery, as well as the CA. The left hepatic artery (LHA) was solitarily branched from the left gastric artery (LGA), which was branched from proximal to the confluence of the CHA and the SpA. The root of the LGA was intact. We successfully performed DP-CAR with combined resection of the GDA, without revascularization, by preserving the LGA.
Discussion:
This is the first English literature case of extended DP-CAR with preservation of the replaced LHA (r-LHA). Aberrant right and left hepatic arteries are common variations. Checking the arterial variations is very important when deciding the treatment strategy for LAPC, especially in cases that appear unresectable.
Conclusion:
Our case indicated that the r-LHA alone can supply the entire liver in extended DP-CAR. The resectability must be decided with close evaluations of the vessel variations and the tumor status.
P67-phox (NCF2) lacking exons 11 and 12 is functionally active and leads to an extremely late diagnosis of chronic granulomatous disease (CGD)
Authors: Joachim Roesler, Florian Segerer, Henner Morbach, Stefan Kleinert, Sebastian Thieme, Angela Rösen-Wolff, Johannes G Liese
Journal: PLoS One (2012)
MeSH terms: Exons / genetics, Granulomatous Disease, Chronic / diagnosis, Granulomatous Disease, Chronic / genetics, Phosphoproteins / genetics, Case Reports, Delayed Diagnosis, Humans, Male, Middle Aged, Phosphoproteins, neutrophil cytosol factor 67K

Two brothers in their fifties presented with a medical history of suspected fungal allergy, allergic bronchopulmonary aspergillosis, alveolitis, and invasive aspergillosis and pulmonary fistula, respectively. Eventually, after a delay of 50 years, chronic granulomatous disease (CGD) was diagnosed in the index patient. We found a new splice mutation in the NCF2 (p67-phox) gene, c.1000 + 2T → G, that led to several splice products one of which lacked exons 11 and 12. This deletion was in frame and allowed for remarkable residual NADPH oxidase activity as determined by transduction experiments using a retroviral vector. We conclude that p67-phox which lacks the 34 amino acids encoded by the two exons can still exert considerable functional activity. This activity can partially explain the long-term survival of the patients without adequate diagnosis and treatment, but could not prevent progressing lung damage.
Cortical Osteolytic Lesion in an Older Patient: Always Consider Metastasis
Authors: Frederiek Laloo, Thiebault Saveyn, Wouter Huysse
Journal: J Belg Soc Radiol (2023)
Keywords: adult, bone neoplasms, femur, lung neoplasms, mri, neoplasms metastasis
MeSH terms: Case Reports

Teaching point: Cortical metastasis has to be considered in older patients with a cortical osteolytic lesion.
De Novo Duplication of 11p15 Associated With Congenital Diaphragmatic Hernia
Authors: Gabriel C Dworschak, Hartmut Engels, Jessica Becker, Lukas Soellner, Thomas Eggermann, Florian Kipfmueller, Andreas Müller, Heiko Reutter, Martina Kreiß
Journal: Front Pediatr (2018)
Keywords: 11p15 duplication, bws, beckwith-wiedemann syndrome, cdh, congenital diaphragmatic hernia, de novo, methylation status, partial trisomy
MeSH terms: Case Reports

Background: Congenital diaphragmatic hernia (CDH) is a rare defect of the diaphragm commonly associated with high morbidity and mortality due to lung hypoplasia and pulmonary hypertension. Although in 70% of patients the etiology of a CDH remains unknown, a multitude of causative chromosomal aberrations has been identified. Case presentation: We describe the first case of isolated 11p15 duplication with CDH. The 18.6 Mb large duplication affected 285 RefSeq genes and included the Beckwith-Wiedemann (BWS)-associated imprinting control region 2 (ICR2, KCNQ1OT1 TSS DMR), whereas the ICR1 (H19 TSS DMR) was not affected. We were able to demonstrate de novo occurrence of the duplication. The paternal origin of the chromosomal material was detected by methylation testing the ICR2. Corresponding to other patients with duplications of the paternal ICR2 copy, a BWS phenotype is not present. Conclusions: The patient presented here together with the review of four other cases from the literature indicate an association between duplications of the chromosomal region 11p15 and developmental defects of the diaphragm. Thus, we suggest duplications of 11p15 as a rare cause of CDH. This association may or may not appear in the context of BWS depending on the extent of the duplication and the imprinting status. Hence, a genetic workup should be performed in patients with CDH, particularly when other abnormalities are noted.
Constitutional 763.3 Kb chromosome 1q43 duplication encompassing only CHRM3 gene identified by next generation sequencing (NGS) in a child with intellectual disability
Authors: Xiaofei Cheng, Qifang Yang, Jun Liu, Juan Ye, Huiying Xiao, Gaimei Zhang, Yuanyuan Pan, Xia Li, Ruifeng Hao, Yinfeng Li
Journal: Mol Cytogenet (2019)
Keywords: 1q43 duplication, chrm3, intellectual disability
MeSH terms: Case Reports

Background:
Deletion or duplication on the distal portion of the long arm of chromosome 1 result in complex and highly variable clinical phenotype including.intellectual disability and autism.
Case presentation:
We report on a patient with intellectual disability and a 763.3 Kb duplication on 1q43 that includes only CHRM3, which was detected by next generation sequencing (NGS). The patient presented with intellectual disability, developmental delay, autistic behavior, limited or no speech, social withdrawal, self-injurious, feeding difficulties, strabismus, short stature, hand anomalie, and no seizures, anxiety, or mood swings, and clinodactyly.
Conclusions:
We propose that CHRM3 is the critical gene responsible for the common characteristics in the cases with 1q43 duplication and deletion.
Occlusion of Internal Carotid Artery in Kimura's Disease
Authors: Tomonori Tamaki, Node Yoji
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

We describe a unique case of Kimura's disease in which cerebral infarction was caused by occlusion of the right internal carotid artery. A 25-year-old man with Kimura's disease was admitted to our hospital because of left hemiparesis. Computed tomography and magnetic resonance imaging of the head showed infarction in the right frontal and temporal lobes. Cerebral angiography demonstrated right internal carotid artery occlusion affecting the C1 segment, with moyamoya-like collateral vessels arising from the right opthalamic artery. Kimura's disease is a chronic disease characterized by the clinical triad of slowly enlarging subcutaneous masses with lymphoid hyperplasia in the head and neck. It often occurs in young Asian men. In our patient, the pathogenesis of internal carotid artery occlusion was unknown. There have only been a few case reports in which occlusion of the internal carotid artery was associated with autoimmune disease, and no previous cases of internal carotid occlusion associated with Kimura's disease have been reported. We suspected that occlusion of this patient's internal carotid artery may be caused by the autoimmune mechanism that underlies Kimura's disease.
Autonomic dysfunction as the initial presentation in spinocerebellar ataxia type 3: A case report and review of the literature
Authors: Yi Jin, Yuchao Chen, Dan Li, Mengqiu Qiu, Menglu Zhou, Zhouyao Hu, Qiusi Cai, Xulin Weng, Xiaodong Lu, Bin Wu
Journal: Front Neurol (2022)
Keywords: autonomic dysfunction, early stage, initial presentation, sexual dysfunction, spinocerebellar ataxia type 3
MeSH terms: Case Reports

Spinocerebellar ataxia type 3 (SCA3), as the most frequent autosomal dominant ataxia worldwide, is characterized by progressive cerebellar ataxia, dysarthria and extrapyramidal signs. Additionally, autonomic dysfunction, as a common clinical symptom, present in the later stage of SCA3. Here, we report a 44-year-old male patient with early feature of autonomic dysfunction includes hyperhidrosis and sexual dysfunction, followed by mild ataxia symptoms. The Unified Multiple System Atrophy Rating Scale (UMSARS) indicated significant dysautonomia during autonomic function testing. Combination of early and autonomic abnormalities and ataxia would be more characteristic of the cerebellar type of multiple system atrophy (MSA-C), the patient's positive family history and identification of an ATXN3 gene mutation supported SCA3 diagnosis. To best of our knowledge, the feature as the initial presentation in SCA3 has not been described. Our study demonstrated that autonomic dysfunction may have occurred during the early stages of SCA3 disease.
Acquired brachial cutaneous dyschromatosis in a 60-year-old male: a case report and review of the literature
Authors: Nadia Abidi, Kristen Foering, Joya Sahu
Journal: Case Rep Dermatol Med (2014)

Acquired brachial cutaneous dyschromatosis is an acquired pigmentary disorder that has been described in only 20 patients but likely affects many more. This case of a man with acquired brachial cutaneous dyschromatosis is unique as most reports are in women. We report the case of a 60-year-old male who presents with an asymptomatic eruption characterized by hyperpigmented and telangiectatic macules coalescing into patches on the bilateral extensor aspects of the forearms which is consistent clinically and histopathologically with acquired brachial cutaneous dyschromatosis. Given its presence in patients with clinical evidence of chronic sun exposure and its histopathological finding of solar elastosis, acquired brachial cutaneous dyschromatosis is likely a disorder caused by cumulative UV damage. However, a possible association between angiotensin-converting enzyme inhibitors and acquired brachial cutaneous dyschromatosis exists. Further investigation is needed to elucidate both the pathogenesis of the disorder and forms of effective management. Treatment of the disorder should begin with current established treatments for disorders of dyspigmentation.
Francisella tularensis peritonitis in stomach cancer patient
Authors: Xiang Y Han, Linus X Ho, Amar Safdar
Journal: Emerg Infect Dis (2004)
MeSH terms: Peritonitis / microbiology, Stomach Neoplasms / complications, Tularemia / diagnosis, Case Reports, Humans, Male, Middle Aged, Peritonitis / complications, Tularemia / complications

Tularemia with peritonitis developed in a 50-year-old man soon after diagnosis of stomach cancer with metastasis. The ascites grew Francisella tularensis subsp. holarctica, which was identified by sequencing analysis of the 16S rDNA. The infection resolved with antimicrobial treatment. Antibodies detected 4 weeks after onset disappeared after chemotherapy-associated lymphopenia.
An ileo-ileal intussusception secondary to polypoid lipoma in a child, a case report and review of the literature
Authors: Sarah Magdy Abdelmohsen, Mohamed Abdelkader Osman, Marwa T Hussien
Journal: Int J Surg Case Rep (2019)
Keywords: intramuscular lipoma, small intestinal intussusception, small intestinal lipoma, unusual presentation of intussusception

Background:
Intramuscular intestinal lipoma is one of the rare benign tumours of the small intestine in children and acts as a lead point of intussusception.
Presentation of case:
We describe a case in which a 4-year-old boy presented with recurrent attacks of colicky abdominal pain and non-bilious vomiting. Abdominal examination was irrelevant. Per rectum (PR) examination indicated an empty rectum without red currant jelly stool and non-palpable mass. Abdominal ultrasonography revealed a target sign of intussusception. After a period of conservative treatment, the child passed normal coloured and well-formed stool. Exploratory laparotomy referred to a long segment ileo-ileal intussusception with a polypoid lipoma as a lead point. Microscopic examination showed a benign non-capsulated intramuscular ileal lipoma.
Discussion:
Small bowel lipoma produces symptoms of intermittent bowel obstruction. Herein, the child presented with non- bilious vomiting, we attribute this to reflex sympathetic stimulation of the pylorus leading to pylorospasm.
Conclusion:
Small intestinal lipoma is a rare finding in children that may cause intussusception which does not resolve spontaneously.
Schwannoma of the radial nerve: a case report
Authors: Jihane Hamdaoui, Hind Elkamch, Noureddine Gharib, Samir El Mazouz, Abdellah Abbassi, Jawad Hafidi
Journal: Pan Afr Med J (2022)
Keywords: schwannoma, case report, delayed diagnosis, enucleation, radial nerve
MeSH terms: Neurilemmoma / diagnostic imaging, Neurilemmoma / surgery, Soft Tissue Neoplasms, Case Reports, Humans, Magnetic Resonance Imaging, Radial Nerve, Ultrasonography

Schwannomas are the most common benign tumors of the peripheral nerves, but represents only 5%-8% of all soft tissue tumors. Their diagnosis is usually delayed due to their slow growth and the nervous adaptation to their increased volume. Ultrasound sonography and magnetic resonance imaging (MRI) images usually ease the diagnosis. Correct enucleation offers very good postoperative outcomes and avoids recurrences. We report an unusual case of schwannoma of the radial nerve (RN) that remained asymptomatic for one year and a half, and treated well, had good outcomes.
Cervical spine osteomyelitis and epidural abscess after chemoradiotherapy for hypopharyngeal carcinoma: a case report
Authors: Yushi Ueki, Jun Watanabe, Shigehisa Hashimoto, Sugata Takahashi
Journal: Case Rep Otolaryngol (2014)

Osteomyelitis of mandible as a delayed adverse event following radiation therapy has been widely reported; however, osteomyelitis of the cervical spine has rarely been reported. In this study, we reported our experience with a case of cervical spine osteomyelitis and epidural abscess after concurrent chemoradiotherapy (CCRT) for hypopharyngeal carcinoma. The case involved a 68-year old man who underwent radical CCRT after a diagnosis of stage IVb, T4bN2cM0 posterior hypopharyngeal wall carcinoma. At 7 months after completing the initial therapy, the patient complained of severe pain in the neck and both shoulders and reduced muscular strength in the extremities. A large defect was found on the mucosa of posterior hypopharyngeal wall. On cervical magnetic resonance imaging, cervical spine osteomyelitis and an epidural abscess were observed. Because antimicrobial therapy was not effective, hyperbaric oxygen therapy was administered. Abscess reduction and improvement of the mucosal defect were observed. Because cervical spine complications after CCRT can be fatal upon worsening, adequate attention must be given.