OpenMed/multicare-articles huggingface dataset:
Detection of BCR-ABL Positive Cells in an Asymptomatic Patient: A Case Report and Literature Review
Authors: Soley Bayraktar, Mark Goodman
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

We report a case of an asymptomatic 39-year-old male who was incidentally found to have a white blood cell count of 15 000/mm(3) associated with a positive BCR-ABL/t(9;22)(q34;q11) chromosomal translocation detected in 51/300 of cells by FISH and RT-PCR from peripheral blood. Within the next 3 months, leukocytosis spontaneously subsided; however, BCR-ABL by RT-PCR and FISH was persistent both in peripheral blood and bone marrow. The patient was not started on any therapy and is being followed regularly with laboratory checkup and physical examination for monitoring signs and symptoms of chronic myeloid leukemia (CML) and biological behavior of his BCR-ABL transcripts. At 1 year of surveillance, he is disease free; however he has persistent detection of BCR-ABL fusion gene. Our case is challenging because actual risk of developing CML in BCR-ABL positive healthy, asymptomatic patients is not known.
Cyclodialysis Clefts following Microinvasive Glaucoma Surgery with Consecutive Intraocular Pressure Spikes
Authors: Ahmed Alshaikhsalama, Niraj Nathan
Journal: Case Rep Ophthalmol Med (2022)
MeSH terms: Case Reports

The purpose of this study is to report a case of cyclodialysis clefts associated with microinvasive glaucoma surgery (MIGS) having two distinct consecutive IOP spikes during cleft closure. A 65-year-old female with a history of primary open angle glaucoma was evaluated for right eye blurry vision since cataract surgery 11 months prior. She reported a MIGS procedure that resulted in a cyclodialysis cleft, with resultant hypotony without resolution. On gonioscopy, two clock hours of widened angle were noted nasally, with small clefts (0.5 clock hour) inferonasally and superonasally. Conservative therapy with cycloplegia was unsuccessful. Argon laser photocoagulation was performed for cleft closure. Initially, while there was visible improvement in the cleft size, it did not close completely, and IOP remained low. Additional laser was performed, one week following, she presented with an acute IOP increase to 55 mmHg. On gonioscopy, it was noted that despite the IOP spike indicating inferonasal closure, the superonasal cleft remained small but open. She was started on IOP-lowering therapy. Her IOP normalized shortly thereafter. Two weeks later, she experienced another acute IOP spike to 54 mmHg. On gonioscopy, the residual cleft had closed. Again, her IOP normalized shortly after and has remained normal since. While IOP spikes after cyclodialysis cleft closure have been reported many times, two consecutive IOP spikes of similar magnitude during sequential closure of two concurrent cyclodialysis clefts have not been reported in the literature. This case raises interesting questions about the physiology underlying an acute increase in IOP following cleft closure.
Intraductal papillary mucinous neoplasm of the biliary tract in the caudate lobe of the liver: a case report and literature review
Authors: Xunhao Zhu, Qingqiang Ni, Qianchang Wang, Chaoqun Ma, Faji Yang, Hengjun Gao, Huaqiang Zhu, Xu Zhou, Hong Chang, Jun Lu, Fangfeng Liu
Journal: Front Oncol (2023)
Keywords: bile duct, biliary tract surgery, diagnosis, intraductal papillary mucinous neoplasm, pathology, treatment
MeSH terms: Case Reports

An intraductal papillary mucinous neoplasm of the biliary tract (BT-IPMN) in the caudate lobe of the liver is a rare tumor originating from the bile duct. Approximately 40% of the intraductal papillary neoplasms of the biliary tract (IPNB) secrete mucus and can grow in the intrahepatic or extrahepatic bile ducts. A 65-year-old woman presented with recurrent episodes of right upper pain. She developed her first episode 8 years ago, which resolved spontaneously. The frequency of symptoms has increased in the last 2 years. She underwent laparoscopic hepatectomy and choledochal exploration and was pathologically diagnosed with a rare BT-IPMN of the caudate lobe after admission. Here, we review studies on IPNB cases and systematically describe the pathological type, diagnosis, and treatment of IPNB to provide a valuable reference for hepatobiliary surgeons in the diagnosis and treatment of this disease.
Recurrent Thyrotoxicosis due to Both Graves' Disease and Hashimoto's Thyroiditis in the Same Three Patients
Authors: Ashley Schaffer, Vidya Puthenpura, Ian Marshall
Journal: Case Rep Endocrinol (2016)

Hashimoto's thyroiditis (HT) and Graves' disease (GD) are the 2 most common autoimmune disease processes affecting the thyroid gland. The relationship between the two is complex and not clearly understood. It has been theorized that HT and GD are 2 separate disease processes due to unique genetic differences demonstrated by genome studies. On the other hand, based on occurrence of both HT and GD in monozygotic twins and within the same family, they have been regarded to represent 2 ends of the same spectrum. This case report describes 3 patients who presented with thyrotoxicosis due to both GD and HT. The initial presentation was thyrotoxicosis due to GD treated with antithyroid medication followed by temporary resolution. They all subsequently experienced recurrence of thyrotoxicosis in the form of Hashitoxicosis due to HT, and then eventually all developed thyrotoxicosis due to GD, requiring radioablation therapy.
Neurological Complications in Young Infants With Acute Bacterial Meningitis
Authors: Mei-Hsin Hsu, Jen-Fu Hsu, Hsuan-Chang Kuo, Mei-Yin Lai, Ming-Chou Chiang, Ying-Jui Lin, Hsuan-Rong Huang, Shih-Ming Chu, Ming-Horng Tsai
Journal: Front Neurol (2018)
Keywords: bacteremia, group b streptococcus, late-onset sepsis, meningitis, neurological complications

We aimed to evaluate the occurrence, treatment, and outcomes of neurological complications after bacterial meningitis in young infants. A case series study from a retrospective cohort from two tertiary-level medical centers in Taiwan between 2007 and 2016 was conducted. Eighty-five young infants aged < 90 days with bacterial meningitis were identified. 25 (29.4%) were born at preterm. Group B Streptococcus (GBS) and Escherichia coli caused 74.1% of identified cases. Despite the majority (90.6%) initially received microbiologically appropriate antibiotics, 65 (76.5%) had experienced at least one neurological complication identified at a median of 6 days (range: 1-173) after onset of bacterial meningitis. The most common neurological complication was seizure (58.8%), followed by subdural effusion (47.1%), ventriculomegaly (41.2%), subdural empyema (21.2%), hydrocephalus (18.8%), ventriculitis (15.3%), periventricular leukomalacia (11.8%), and encephalomalacia (10.6%). Nine patients (10.6%) died (including 4 had critical discharge on request) and 29/76 (38.2%) of the survivors had major neurological sequelae at discharge. Nighteen (22.4%) received surgical intervention due to these complications. After multivariate logistic regression, initial seizure (adjusted odds ratio [aOR]: 4.76, 95% confidence interval [CI]: 1.7-13.0, P = 0.002) and septic shock (aOR: 6.04; 95% CI: 1.35-27.0, P = 0.019) were independent predictors for final unfavorable outcomes. Conclusions: Neurological complications and sequelae are common in young infants after bacterial meningitis. Patients presented with early seizure or septic shock can be an early predictor of final unfavorable outcomes and require close monitoring. Further research regarding how to improve clinical management and outcomes is warranted.
Anesthesia in a Patient with Potocki-Lupski Syndrome
Authors: Songhyun Kim, Yunhee Lim, In-Jung Jun, Byunghoon Yoo, Kye-Min Kim
Journal: Case Rep Anesthesiol (2021)
MeSH terms: Case Reports

Introduction:
Potocki-Lupski syndrome (PTLS) is a rare disease caused by the duplication of a small segment of chromosome 17 (17p11.2). The clinical presentation of this syndrome is quite variable and includes hypotonia, failure to thrive, oropharyngeal dysphagia, developmental delay, and behavioral abnormalities. In addition, congenital heart disease, sleep apnea, and mildly dysmorphic features are common and should be considered during anesthetic management. However, because of the rarity and newness of the syndrome, there are few reports on the anesthetic care of patients with PTLS. Case Report. We report a case of a 4-year-old girl diagnosed with this syndrome who underwent general anesthesia for exotropia surgery. The patient exhibited micrognathia; a mild decrease in muscle tone; and a developmental delay in motor, speech, and cognition. She had a history of swallowing incoordination and gastroesophageal reflux. No abnormalities were found on a preoperative echocardiography. A videolaryngoscope was used for tracheal intubation, and the state of neuromuscular blockade was monitored in addition to standard monitoring. Anesthesia was maintained with sevoflurane and remifentanil. The patient recovered without any adverse events.
Conclusion:
As PTLS patients may have several malformations, preanesthetic evaluation is important. Preoperative echocardiography and cardiologic consultations are required. It is desirable to prepare for the risk of difficult airway and pulmonary aspiration. Postoperatively, close monitoring is needed to prevent airway compromise.
Treatment of Infected Pseudoarthrosis in a Subtrochanteric Fracture in a Patient with Osteopetrosis
Authors: Llano Lionel, Jorge D Barla, Campelo Diego, Taype Danilo, Carlos F Sancineto, Guido Carabelli
Journal: Case Rep Orthop (2020)
MeSH terms: Case Reports

Osteopetrosis is a disease of osteoclasts that results in failure of bone remodeling. Despite the sclerotic radiographic appearance of the thickened cortices and its material hardness, osteopetrotic bone is weak and prone to fracture by minor trauma. We report a case of a subtrochanteric fracture in an osteopetrotic patient, with further pseudoarthrosis and infection. Several surgical procedures were required, with further complications. The outcome of each procedure and the final result are also described.
Treatment of thoracolumbar spinal infections through anterolateral approaches using expandable titanium mesh cage for spine reconstruction
Authors: Tarantino Roberto, Marruzzo Daniele, Cappelletti Martina, De Giacomo Tiziano, Delfini Roberto
Journal: ScientificWorldJournal (2012)
MeSH terms: Plastic Surgery Procedures / methods, Spine / pathology, Spondylitis / diagnosis, Thoracic Vertebrae / pathology, Titanium / therapeutic use, Case Reports, Adult, Aged, Humans, Male, Spine / surgery, Spondylitis / surgery, Thoracic Vertebrae / surgery, Titanium

Pyogenic vertebral osteomyelitis (PVO) is still a rare pathology. However, its incidence is on the rise. This is due to an increasing population with predisposing factors. Also, the availability of more effective diagnostic tools has brought it increasingly to the surgeon's attention. In this study the patients were treated in the Neurosurgery Division of the Department of Neurological Sciences and Psychiatry of the Sapienza University of Rome, between 2001 and 2009. They had thoracolumbar pyogenic spondylitis. This study was undertaken in order to identify the correct diagnostic and therapeutic treatment needed in such cases. From the cases studied here, it is evident that spinal infections can be extremely insidious and that diagnosis tends to be reached late. Surgery, along with the antibiotic treatment, allows for eradication of the causes of the pathology by the reclamation of the affected region. Surgery is also fundamental in helping to recover vital functions and in restoring as much as possible the correct curvature of the rachises. The use of an anterolateral approach is dictated by the necessity of obtaining 360° stability as well as by the need to clear away extensive infections, which are not always reachable using a posterior approach.
Anesthetic management during a cesarean section in a patient with cleidocranial dysplasia: a case report
Authors: Yumiko Nishio, Teruyuki Hiraki, Hiroko Taniguchi, Kazuo Ushijima
Journal: JA Clin Rep (2018)
Keywords: cesarean section, cleidocranial dysplasia, neuraxial anesthesia

Background:
Cleidocranial dysplasia is a type of skeletal dysplasia, which is primarily characterized by delayed ossification of skeletal structures. It causes facial and oral abnormalities, resulting in difficult airway management and neuraxial anesthesia.
Case presentation:
The patient was a 24-year-old primipara (height 138 cm, weight 42 kg) with a hypoplastic right clavicle, patent fontanelles, dental malalignment, and a high palate. She was diagnosed with cleidocranial dysplasia at birth, although gene examination has not been performed. The fetus was confirmed to have short limbs and large fontanelles during an examination performed at 28 weeks gestation, suspected to have cleidocranial dysplasia. The mother was scheduled for a cesarean section at 37 weeks and 1 day due to cephalopelvic disproportion. Preoperative radiography and magnetic resonance imaging revealed no vertebral and spinal abnormalities, which allowed combined spinal-epidural analgesia (CSEA) to be performed. The surgery was safely concluded under CSEA with no intraoperative respiratory or circulatory problems.
Conclusions:
Patients with cleidocranial dysplasia exhibit facial, oral abnormalities, and often vertebral abnormalities. Imaging assessments before neuraxial anesthesia and careful preparation for airway management are required.
Two Novel NF1 Pathogenic Variants Causing the Creation of a New Splice Site in Patients With Neurofibromatosis Type I
Authors: Vita Setrajcic Dragos, Ana Blatnik, Gasper Klancar, Vida Stegel, Mateja Krajc, Olga Blatnik, Srdjan Novakovic
Journal: Front Genet (2019)
Keywords: nf1, ngs, functional analysis, mrna, neurofibromatosis type i, splicing, splicing alteration, variant of uncertain significance
MeSH terms: Case Reports

Neurofibromatosis type I (NF1) is one of the most common autosomal dominant disorders, since the estimated incidence is one in 3,500 births. In this study, we present bioinformatical and functional characterization of two novel splicing NF1 variants, detected in NF1 patients. Patient 1, carrying NF1:c.122A>T, which introduces a new exonic 5' donor splice site, was diagnosed with hormone-positive, Her-2-negative breast cancer at the age of 47. She had an atypical presentation of NF1, with few café-au-lait spots and no Lisch nodules. Patient developed a hemothorax due to subclavian artery rupture, which has previously been described as an extremely rare complication of NF1. Patient 2, carrying NF1:c.7395-17T>G that creates a new intronic 3' acceptor splice site, had quite a typical clinical presentation of NF1: formations on her tongue in the region of her left metacarpal bones and on her left foot, plexiform neurofibroma in her pelvis, several café-au-lait spots, and axillary freckling. She was also diagnosed with cognitive impairment. In the report, we are presenting two novel variants which were successfully classified based on NGS and mRNA analysis. Based on results of mRNA analysis, both variants were classified as likely pathogenic according to ACMG guidelines applying evidence categories PS3, PM2, PP3, and PP1 supporting. By characterizing those two novel NF1 splicing variants, we have confirmed the neurofibromatosis type I phenotype in the two probands.
Copper Beaten Skull! Can It be a Usual Appearance?
Authors: Vela Desai, Smita R Priyadarshini, Rajeev Sharma
Journal: Int J Clin Pediatr Dent (2014)
Keywords: copper beaten skull, cranio-synostosis, intracranial tension
MeSH terms: Case Reports

'Copper beaten' skull refers to the prominent convolutional markings seen in multiple bones of the skull. Underlying cause is thought to be related to increased intracranial pressure resulting from such processes as craniosynostosis, obstructive hydrocephalus and/or intracranial masses. However, the copper beaten appearance of the skull has poor sensitivity in detecting increased intracranial pressure as such an appearance can also be seen in normal patients. In this article, we have reported a case of a 5 years old child with classical features of beaten silver skull. How to cite this article: Desai V, Priyadarshini SR, Sharma R. Copper Beaten Skull! Can It be a Usual Appearance? Int J Clin Pediatr Dent 2014;7(1):47-49.
Rechallenge with EGFR-TKI after failure of immunotherapy is considered an effective treatment for advanced lung adenocarcinoma patients with EGFR exon 19 deletion: a case report
Authors: Shubin Chen, Qitao Yu, Wei Jiang, Yukun Lu, Yun Zhao, Huilin Wang
Journal: Front Med (Lausanne) (2023)
Keywords: egfr exon 19 deletion, egfr-tki, advanced lung adenocarcinoma, immunotherapy, rechallenge
MeSH terms: Case Reports

In advanced lung adenocarcinoma patients with epidermal growth factor receptor (EGFR) mutation, epidermal growth factor receptor-tyrosine kinase inhibitors (EGFR-TKIs) have an excellent and long-lasting therapeutic response; however, virtually all patients eventually develop drug resistance and experience disease progression. The use of immunotherapy after EGFR-TKIs may be a successful therapeutic option for individuals who are resistant to them. It is still unclear if EGFR-TKIs can be administered again after immunotherapy has failed. We describe a case of a 37-year-old woman who was found to have T4N3M1a stage IVa lung adenocarcinoma. Amplification refractory mutation system PCR (ARMS-PCR) genetic testing suggested EGFR exon 19 deletion. The patient was initially treated with a regimen of icotinib (125 mg tid) combined with anlotinib (8 mg qd d1-d14) with an optimal efficacy rating of partial response (PR) and was granted a PFS of 7 months. In second-line treatment, the patient received three cycles of a KN046 (KN046 is a bispecific antibody inhibitor of PD-L1 and CTLA-4) 295 mg d1, pemetrexed 800 mg d1, plus carboplatin 750 mg d1 regimen, with an optimal efficacy rating of stable disease (SD) on CT. The third-line therapy was chosen to be afatinib with docetaxel, and the patient was evaluated for PR on CT. Up to 15 August 2022, the patient had a progression free survival (PFS) of 14 months. The successful treatment of this patient is a reminder that EGFR-TKI rechallenge in EGFR exon 19 deletion patients with EGFR-TKI resistance, in which immunotherapy has failed, may be effective.
NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement
Authors: Péter Balicza, Zoltán Grosz, Viktor Molnár, Anett Illés, Dora Csabán, Andras Gézsi, Lívia Dézsi, Dénes Zádori, László Vécsei, Mária Judit Molnár
Journal: Front Genet (2018)
Keywords: nkx2-1 gene, nkx2-1 related disorders, benign hereditary chorea, brain-lung-thyroid syndrome, chorea, empty sella, myoclonus dystonia, pituitary
MeSH terms: Case Reports

Background:NKX2-1 related disorders (also known as brain-lung-thyroid syndrome or benign hereditary chorea 1) are associated with a wide spectrum of symptoms. The core features are various movement disorders, characteristically chorea, less frequently myoclonus, dystonia, ataxia; thyroid disease; and lung involvement. The full triad is present in 50% of affected individuals. Numerous additional symptoms may be associated, although many of these were reported only in single cases. Pituitary dysfunction was ambiguously linked to NKX2-1 haploinsufficiency previously. Case Presentation: We examined two members of a family with motor developmental delay, mixed movement disorder (myoclonus, dystonia and chorea) and endocrinological abnormalities (peripheric thyroid disease, and pituitary hormone deficiencies). Dystonia predominated at the father, and myoclonus at the daughter. The father had hypogonadotropic hypogonadism, while the daughter was treated with growth hormone deficiency. Both patients had empty sella on MRI. Candidate gene analyses were negative. Exome sequencing detected a pathogenic stop variation (NM_003317:c.338G>A, p.Trp113*) in the NKX2-1 gene. Conclusions: This case study has two highlights. (1) It draws attention to possible pituitary dysfunction in brain-lung-thyroid syndrome, and provide further evidences that this might be linked to loss of function of the NKX2-1 gene. (2) It underscores the importance of considering NKX2-1 related disorders in the differential diagnosis of myoclonus dystonia.
Painful Horner syndrome as a harbinger of silent carotid dissection
Authors: Amit Nautiyal, Sonal Singh, Michael DiSalle, John O'Sullivan
Journal: PLoS Med (2005)
MeSH terms: Carotid Artery, Internal, Dissection / complications, Horner Syndrome / etiology, Case Reports, Adult, Anticoagulants / therapeutic use, Carotid Artery, Internal, Dissection / diagnosis, Carotid Artery, Internal, Dissection / drug therapy, Female, Heparin / therapeutic use, Humans, Warfarin / therapeutic use, Anticoagulants, Warfarin, Heparin

A painful Horner's syndrome should alert clinicians to the possibilty of a silent carotid dissection
Unprompted Closure of Spontaneous Macular Hole Secondary to Retained Subfoveal Perfluorocarbon Liquid
Authors: Hamouda Hamdy Ghoraba, Hashem Hamouda Ghoraba, Adel Galal Zaky
Journal: Case Rep Ophthalmol Med (2022)
MeSH terms: Case Reports

Purpose:
To report unprompted closure of spontaneous macular hole secondary to inadvertent subfoveal perfluorocarbon liquid (PFCL) after vitrectomy surgery. Observations. We present a case of a retained large single subfoveal PFCL droplet following vitrectomy and silicone oil injection for subtotal rhegmatogenous retinal detachment that showed spontaneous release 3 weeks postoperatively, with subsequent development of full thickness macular hole (FTMH) which completely closed later on after silicone oil removal without internal limiting membrane peeling with marvelous anatomic and visual improvement after spontaneous closure of MH.
Conclusions:
Different fates of subfoveal PFCL droplets may happen. Spontaneous release of subfoveal PFCL without surgical interference has rarely been reported.
Case report: Successful outcome of a young patient with rhabdomyolysis and shock caused by diquat poisoning
Authors: Yunchao Chen, Zejin Ou, Ruichang Zhang, Zhenhong Long, Rushen Fu, Shihao Tang, Zhi Wang
Journal: Front Med (Lausanne) (2023)
Keywords: diquat, multi-organ dysfunction, pulse indicator continuous cardiac output, rhabdomyolysis, shock

The widespread use of diquat as a substitute for paraquat has led to an increase in poisoning deaths. A successful case of diquat poisoning complicated with rhabdomyolysis and shock was lacking. A 13-year-old previously healthy girl ingested 40 ml of diquat solution in a suicide attempt. The concentration of diquat in serum was 436.2 ug/L at 10 h after poisoning. The clinical course was characterized by progressive multi-organ dysfunction, particularly rhabdomyolysis and shock. The main treatments included intensive hemoperfusion combined with continuous renal replacement therapy (CRRT), drainage, and activated carbon adsorption. Meanwhile, accurate dilatation under the model of pulse indicator continuous cardiac output (PICCO) was essential for the successful treatment of shock. The serum concentration of diquat declined to 20 ug/L after 96 h of treatments. The patient was discharged from the hospital after 3 weeks of treatment without obvious symptoms. So far, this was the first successful case of diquat poisoning complicated with rhabdomyolysis and shock, which would enrich the experience of diquat poisoning treatment.