OpenMed/multicare-articles huggingface dataset:
Myoclonic Jerks and Schizophreniform Syndrome: Case Report and Literature Review
Authors: Dominique Endres, Dirk-M Altenmüller, Bernd Feige, Simon J Maier, Kathrin Nickel, Sabine Hellwig, Jördis Rausch, Christiane Ziegler, Katharina Domschke, John P Doerr, Karl Egger, Ludger Tebartz van Elst
Journal: Front Psychiatry (2018)
Keywords: janz syndrome, lani-hypothesis, juvenile myoclonic epilepsy, myoclonic jerks, paraepileptic, schizophrenia
MeSH terms: Case Reports

Background: Schizophreniform syndromes can be divided into primary idiopathic forms as well as different secondary organic subgroups (e.g., paraepileptic, epileptic, immunological, or degenerative). Secondary epileptic explanatory approaches have often been discussed in the past, due to the high rates of electroencephalography (EEG) alterations in patients with schizophrenia. In particular, temporal lobe epilepsy is known to be associated with schizophreniform symptoms in well-described constellations. In the literature, juvenile myoclonic epilepsy has been linked to emotionally unstable personality traits, depression, anxiety, and executive dysfunction; however, the association with schizophrenia is largely unclear. Case presentation: We present the case of a 28-year-old male student suffering from mild myoclonic jerks, mainly of the upper limbs, as well as a predominant paranoid-hallucinatory syndrome with attention deficits, problems with working memory, depressive-flat mood, reduced energy, fast stimulus satiation, delusional and audible thoughts, tactile hallucinations, thought inspirations, and severe sleep disturbances. Cerebral magnetic resonance imaging and cerebrospinal fluid analyses revealed no relevant abnormalities. The routine EEG and the first EEG after sleep deprivation (under treatment with oxazepam) also returned normal findings. Video telemetry over one night, which included a partial sleep-deprivation EEG, displayed short generalized spike-wave complexes and polyspikes, associated with myoclonic jerks, after waking in the morning. Video-EEG monitoring over 5 days showed over 100 myoclonic jerks of the upper limbs, frequently with generalized spike-wave complexes with left or right accentuation. Therefore, we diagnosed juvenile myoclonic epilepsy. Discussion: This case report illustrates the importance of extended EEG diagnostics in patients with schizophreniform syndromes and myoclonic jerks. The schizophreniform symptoms in the framework of epileptiform EEG activity can be interpreted as a (para)epileptic mechanism due to local area network inhibition (LANI). Following the LANI hypothesis, paranoid hallucinatory symptoms are not due to primary excitatory activity (as myoclonic jerks are) but rather to the secondary process of hyperinhibition triggered by epileptic activity. Identifying subgroups of schizophreniform patients with comorbid epilepsy is important because of the potential benefits of optimized pharmacological treatment.
Cystoid Macular Edema 18 Years after Anterior Chamber Phakic Intraocular Lens Implantation
Authors: Elias L Warrak, Majd S Haddam, Walid N Dandan, John E Warrak, Fady K Sammouh
Journal: Case Rep Ophthalmol Med (2022)
MeSH terms: Case Reports

We report a case of a 54-year-old female patient who underwent PAC-IOL implantation 18 years prior to presentation. The patient had a best corrected visual acuity (BCVA) 20/20 in the right eye (OD) postoperatively with normal eye exam on routine follow-up since then. The patient presented for acute onset decreased visual acuity in the right eye. BCVA was 20/60, and exam showed blunted macular reflex with no evidence of inflammation. Optical coherence tomography (OCT) showed CME. She was started on topical treatment (ketorolac 0.5%) OD four times daily. Three weeks later, the patient had a BCVA of 20/20 OD with a normal macular reflex and an OCT showing the resolution of the CME. To our knowledge, this is the first reported case of a CME 18 years post PAC-IOL implantation. The possible cause of this incidence could be related to subclinical intraocular inflammation. Ophthalmologists should be aware of the possibility of such a latent CME post-PAC-IOL implantation.
Case Report: A Very Low Birth Weight Female Infant With Congenital Bilateral Periventricular Leukomalacia, Born to a Mother With Coronavirus Disease 2019
Authors: Keisuke Kobata, Nanae Yutaka, Hiroshi Ogasawara, Aya Mima, Kaho Suzuki, Ryoichi Hazama, Ran D Goldman, Makoto Nabetani
Journal: Front Pediatr (2022)
Keywords: covid-19, mri, pvl, periventricular leukomalacia, ultrasound, very low birth weight baby
MeSH terms: Case Reports

A 26-year-old primipara woman with COVID-19 performed an emergency Cesarean section due to further hypoxemia at 28 weeks 5/7 days gestation. The female neonate was born weighing 1,347 gram with an Apgar score of four at 1 min, three at 5 min, and eight at 10 min. RT-PCR from nasopharyngeal swabs for COVID-19 were performed at birth, 24 h, and 48 h after birth, all of which were negative. On head ultrasound bilateral cystic lesions were found in the anterior horn of the lateral ventricles at birth. A brain magnetic resonance imaging (MRI) test at 56 days of life (corrected 36 weeks and 6/7 days) revealed cystic lesions with T1 low signal, T2 high signal, and T2 Flair high signal around the anterior horn of the lateral ventricle and We diagnose it as Grade 2 periventricular leukomalacia (PVL). She was discharged on day 64 of life, with no abnormality on exam. While the majority of neonates born to women with COVID-19 during pregnancy have favorable outcome, we report a case of a neonate with Grade 2 periventricular leukomalacia and this should prompt clinicians to monitor fetal cerebral function and structure shortly after birth.
Gastrointestinal stromal tumour of the rectum and intestinal obstruction: case report
Authors: Ana Karla Uribe Rivera, Andrés Guevara Jabiles, Ivan Chavez Passiuri, Elica Garcia Leon, Melvy Guerrero Quiroga, Renier Cruz Baca, Jossue Espinoza Figueroa, Nelson Purizaca Rosillo, Eduardo Payet Meza
Journal: Ecancermedicalscience (2020)
Keywords: c-kit mutation, cd117, doc-1, case report, exon 9, rectal gastrointestinal stromal tumour (gist)
MeSH terms: Case Reports

We report the case of a 75-year-old female patient with a big tumour in the lower rectum with intestinal obstruction and lower gastrointestinal bleeding history who underwent a tumour biopsy under laparotomy and end colostomy at another hospital in Peru. She came to our institution for clinical evaluation with a pathology result of a rectal gastrointestinal stromal tumour. An extra elevator abdominoperineal resection was performed with tumour-free margins. The histology confirmed a high-grade (G2) rectal gastrointestinal stromal tumour with a mitotic index of 27/50. DOC-1 (+) and CD117 (+) in immunohistochemistry. Genomic DNA was extracted from the paraffin-fixed tumour sample, and c.1504_1509dupGCCTAT (p.Ala502_Tyr503dup) mutation was detected in exon 9 of the KIT gene. Imatinib 400 mg per day for 3 years was indicated as adjuvant treatment. Currently, she has a disease-free survival of 12 months.
Diabetic Striatopathy: Case Report and Possible New Actors
Authors: Chiara Mozzini, Raffaele Ghirardi, Mauro Pagani
Journal: Case Rep Neurol Med (2022)
MeSH terms: Case Reports

Diabetic striatopathy is a very rare neurological complication of diabetes. We report the case of an 86-year-old woman with poorly controlled type 2 diabetes admitted to the internal medicine ward for sudden onset of altered sensorium and severe bilateral choreiform and ballistic movements. The precise pathophysiology of this condition is not well understood. Our communication aims to remind clinicians to consider the possibility of diabetic striatopathy when poor-controlled diabetic patients have sudden-onset choreiform and ballistic movements. Moreover, this case suggests the possibility that oxidative and endoplasmic reticulum stress may be involved in this process.
Case report: Acute toxic myocardial damage caused by 5-fluorouracil-from enigma to success
Authors: Ratko Lasica, Jelena Spasic, Lazar Djukanovic, Danijela Trifunovic-Zamaklar, Dejan Orlic, Olga Nedeljkovic-Arsenovic, Milika Asanin
Journal: Front Cardiovasc Med (2022)
Keywords: 5-fluorouracil, acute coronary syndrome, cancer, cardiomyopathy, toxic myocardial damage
MeSH terms: Case Reports

Considering the pandemic of both cardiovascular diseases and oncological diseases, there is an increasing need for the use of chemotherapy, which through various pathophysiological mechanisms leads to damage to heart function. Cardio toxicity of chemotherapy drugs can manifest itself in a variety of clinical manifestations, which is why establishing a valid diagnosis is a real mystery for clinicians. Acute systolic heart failure (AHF) due to the use of 5-fluorouracil (5-FU) is a rare occurrence if it is not associated with myocardial infarction, myocarditis or Takotsubo cardiomyopathy. Therefore, we decided to present a case of an 52-year-old male who was diagnosed with stage IV RAS wild-type adenocarcinoma of the rectum and in whom the direct toxic effect 5-FU is the main reason for the appearance of toxic cardiomyopathy.
A rare location of thyroglossal duct cyst in a newborn
Authors: Amel El Korbi, Rachida Bouatay, Jihène Houas, Karim Ben Ameur, Khaled Harrathi, Jamel Koubaa
Journal: Pan Afr Med J (2018)
Keywords: newborn, surgery, thyroglossal cyst, tongue
MeSH terms: Thyroglossal Cyst / pathology, Tongue / pathology, Tongue Diseases / pathology, Case Reports, Female, Humans, Infant, Newborn, Thyroglossal Cyst / surgery, Tongue / surgery, Tongue Diseases / surgery

Thyroglossal duct cyst of the tongue is a rare entity. Occurrence in the anterior part of the tongue is exceptional. We report in this paper a rare case of thyroglossal cyst of the anterior part of the tongue, discovered in a five-days-old newborn at delivery. Images have shown a cystic mass with homogenous liquid content. A transoral complete resection of the lesion was performed, with no postoperative complication. The histological analysis confirm the diagnosis of lingual thyroglossal duct cyst. There were no recurrence with a follow-up of eight months.
Brain metastasis in basaloid undifferentiated anal carcinoma: A case report
Authors: Jorge Hernando-Cubero, Vicente Alonso-Orduña, Alba Hernandez-Garcia, Ana Cebollero DE Miguel, Natalia Alvarez-Garcia, Antonio Anton-Torres
Journal: Oncol Lett (2014)
Keywords: anal cancer, basaloid carcinoma, brain metastasis, cloacogenic carcinoma

Anal cancer is a rare tumor that accounts for 2% of all colorectal neoplasms. The brain is a rarely affected organ. The aim of the present study was to the review the only four cases of anal cancer brain metastases previously published in the literature. In addition, the current study presents the case of a 69-year-old male diagnosed with basaloid undifferentiated carcinoma of the anal canal (stage IV with liver, lung and bone metastasis). Despite the patient's good response to chemotherapy and the achievement of a partial response that was maintained for 14 months, brain metastases developed. Although radiotherapy was administered, the patient succumbed to the condition 12 weeks after the diagnosis of brain metastasis.
Case Report: Rare Presentation of Mixed Germ Cell Tumor in an Infant
Authors: Sriharsha Talluri, Michael A Goedde, Susan Coventry, Eran Rosenberg, Katie L Canalichio, Dennis Peppas, Jeffrey T White
Journal: Front Pediatr (2021)
Keywords: germ cell tumor, pediatric cancer, pediatric urology, surgery, testicular tumor
MeSH terms: Case Reports

The estimated incidence of pediatric testis tumor is 0.5-2.0 per 100,000 children, accounting for 1-2% of all pediatric tumors. Mixed germ cell tumors (MGCT) in prepubertal males are exceedingly rare, with only one previous case report found in the literature. We report a case of a MGCT in an infant. For prepubertal males, GCTs typically present with a painless scrotal mass, though trauma, testis torsion and hydrocele are also common presentations. Similar to such tumors in postpubertal males, ultrasonography, computed tomography, and tumor markers are integral to determine the best treatment. The patient described in this report presented with a painless scrotal mass. Following orchiectomy, the patient was found to have MGCT that was limited to the testis. With prudent management, these patients tend to have favorable prognoses.
Identification of novel mutations in STAR gene in patients with lipoid congenital adrenal hyperplasia: a first report from India
Authors: Lakshmi Vasudevan, Rajesh Joshi, Dhanjit Kumar Das, Sudha Rao, Daksha Sanghavi, Shiny Babu, Parag M Tamhankar
Journal: J Clin Res Pediatr Endocrinol (2013)
MeSH terms: Adrenal Hyperplasia, Congenital / genetics, Disorder of Sex Development, 46,XY / genetics, Mutation, Phosphoproteins / genetics, Case Reports, Adrenal Hyperplasia, Congenital / diagnosis, Amino Acid Sequence, Base Sequence, Codon, Nonsense, DNA Mutational Analysis, Disorder of Sex Development, 46,XY / diagnosis, Female, Frameshift Mutation, Humans, India, Infant, Infant, Newborn, Karyotype, Male, Mutation, Missense, Pregnancy, Prenatal Diagnosis, Codon, Nonsense, Phosphoproteins, steroidogenic acute regulatory protein, Lipoid congenital adrenal hyperplasia

Lipoid congenital adrenal hyperplasia (LCAH), a rare disorder of steroid biosynthesis, is the most severe form of CAH. We report novel molecular findings of three unrelated infants with LCAH diagnosed at our center. A known missense mutation c.653C>T (p.A218V) and two novel mutations [premature termination c.441G>A (or p.W147X) and frameshift deletion c.del815G (or p.R272PfsX35)] were identified after complete sequencing of the STAR gene. Prenatal diagnosis was carried out for the family with mutation c.815delG by molecular testing wherein the fetus was found to be homozygous for the mutation. This is the first report of molecular diagnosis and prenatal testing for LCAH from India.
First Case of COVID-19-Associated Collapsing Glomerulopathy in Sub-Saharan Africa
Authors: Yannick M Nlandu, Jean-Robert R Makulo, Nestor M Pakasa, Ernest K Sumaili, Clarisse N Nkondi, Justine B Bukabau, François K Beya, Nazaire M Nseka, François B Lepira
Journal: Case Rep Nephrol (2020)
MeSH terms: Case Reports

Although the lungs remain the main target of SARS-CoV-2, other organs, such as kidneys, can be affected, which has a negative impact on the outcomes of COVID-19 patients. Although previous studies of kidney disease in COVID-19 reported mainly SARS-CoV-2-induced tubular and interstitial injury, there is growing evidence coming out of Africa of glomerular involvement, especially collapsing glomerulopathy seen particularly in people of African descent. We report a case of collapsing glomerulopathy revealed by acute kidney injury and a new onset of full blown nephrotic syndrome in a black Congolese patient coinfected with COVID-19 and malaria.
Osteolytic Bone Lesions - A Rare Presentation of AML M6
Authors: N Geetha, K P Sreelesh, M J Priya, V S Lali, N Rekha
Journal: Mediterr J Hematol Infect Dis (2015)
MeSH terms: Case Reports

Acute myeloid leukemia (AML) M6 is a rare form of AML accounting for < 5 % of all AML. Extramedullary involvement is very rarely seen in this entity. Skeletal lesion has not been described in AML M6 before. We discuss the case of a 17 year old boy with AML M6, who presented with osteolytic lesion of right humerus. He was treated with induction and consolidation chemotherapy. The present case is the first report in literature of AML M6 presenting with skeletal lesions.
Safe and Ultraconservative Rehabilitation of Worn Teeth Patients: How Sectional Clear Aligners May Enhance the Prosthetic Treatment Plan
Authors: Camillo D'Arcangelo, Mirco Vadini, Matteo Buonvivere, Francesco De Angelis
Journal: Case Rep Dent (2022)
MeSH terms: Case Reports

This study describes the clinical workflow for occlusal vertical dimension (OVD) increase in patients showing extensive tooth wear and mild teeth misalignment/crowding. A patient affected by dental erosion and occlusal abnormalities was treated to improve her situation. After ascertaining sound condyle and temporomandibular joint (TMJ) conditions, an OVD increase was sought to provide enough inter-occlusal space for the restorations. The use of TMJ three-dimensional imaging throughout the clinical procedures allowed to objectively track the condyle and disk position and confirm a steady condyle-glenoid cavity relationship before definitive restorations placement. Sectional clear aligner therapy prior to totally additive prosthetic rehabilitation allowed obtaining slight derotation and movements of anterior teeth, thus maximizing sound tissue preservation. Adhesively luted restorations were finally delivered on both anterior and posterior sectors. At the end of the treatment, the pre-operative TMJ balance appeared successfully preserved, and the patient was satisfied with the aesthetic and function achieved.
Transcatheter Aortic Valve Replacement Incidentalomas: A Multimodality Imaging Case of Giant Right Coronary Aneurysm
Authors: Jamal Janjua, Esosa G Odigie-Okon, Premnauth Rabindranauth, Richard J Wittchow, Aiman Riaz
Journal: Case Rep Cardiol (2018)
MeSH terms: Case Reports

Giant coronary artery aneurysms (CAAs) are defined as having a diameter of greater than 2 cm. We report a case of an 82-year-old male with severe aortic stenosis incidentally diagnosed with giant right coronary artery aneurysm (gRCAA) while undergoing evaluation for transcather aortic valve replacement (TAVR). It was causing a mass effect on the right cardiac chambers but was otherwise asymptomatic. Our patient was successfully treated with surgical excision of aneurysm with concomitant coronary artery bypass grafting (CABG) and surgical aortic valve replacement (SAVR). The patient remained stable at discharge and on serial follow-ups for two years. In conclusion, due to the associated complication and increased risk of mortality with giant coronary aneurysms, we recommend surgical approach instead of medical management alone. We also call for evidence-based recommendations and guidelines for management of TAVR incidentalomas.
Can Leaf Water Content Be Estimated Using Multispectral Terrestrial Laser Scanning? A Case Study With Norway Spruce Seedlings
Authors: Samuli Junttila, Junko Sugano, Mikko Vastaranta, Riikka Linnakoski, Harri Kaartinen, Antero Kukko, Markus Holopainen, Hannu Hyyppä, Juha Hyyppä
Journal: Front Plant Sci (2018)
Keywords: endoconidiophora polonica, drought stress, forest damage, leaf water content, multispectral laser scanning, terrestrial laser scanning, tree health

Changing climate is increasing the amount and intensity of forest stress agents, such as drought, pest insects, and pathogens. Leaf water content, measured here in terms of equivalent water thickness (EWT), is an early indicator of tree stress that provides timely information about the health status of forests. Multispectral terrestrial laser scanning (MS-TLS) measures target geometry and reflectance simultaneously, providing spatially explicit reflectance information at several wavelengths. EWT and leaf internal structure affect leaf reflectance in the shortwave infrared region that can be used to predict EWT with MS-TLS. A second wavelength that is sensitive to leaf internal structure but not affected by EWT can be used to normalize leaf internal effects on the shortwave infrared region and improve the prediction of EWT. Here we investigated the relationship between EWT and laser intensity features using multisensor MS-TLS at 690, 905, and 1,550 nm wavelengths with both drought-treated and Endoconidiophora polonica inoculated Norway spruce seedlings to better understand how MS-TLS measurements can explain variation in EWT. In our study, a normalized ratio of two wavelengths at 905 and 1,550 nm and length of seedling explained 91% of the variation (R2) in EWT as the respective prediction accuracy for EWT was 0.003 g/cm2 in greenhouse conditions. The relation between EWT and the normalized ratio of 905 and 1,550 nm wavelengths did not seem sensitive to a decreased point density of the MS-TLS data. Based on our results, different EWTs in Norway spruce seedlings show different spectral responses when measured using MS-TLS. These results can be further used when developing EWT monitoring for improving forest health assessments.
Case Report: Mutant SCN9A Susceptible to Charcot Neuroarthropathy in a Patient With Congenital Insensitivity to Pain
Authors: Xiao-Hui Xie, Jian-Guang Tang, Zhong-Hua Liu, Shui-Jiao Peng, Zhuang-Zhuang Yuan, Heng Gu, Yi-Qiao Hu, Zhi-Ping Tan
Journal: Front Neurosci (2021)
Keywords: charcot neuroarthropathy, scn9a, bone destruction, congenital insensitivity to pain, joint destruction
MeSH terms: Case Reports

Charcot neuroarthropathy is a systemic disease with pathological changes in the musculoskeletal system, which leads to fractures, dislocations, and deformities involving multiple bones and joints, particularly those of the feet. While the common underlying cause of Charcot neuroarthropathy is diabetes mellitus, it is also associated with congenital insensitivity to pain (CIP). CIP is a rare disorder caused by loss-of-function mutations in SCN9A encoding Nav1.7. In this study, we report a patient with CIP from a consanguineous family susceptible to Charcot neuroarthropathy with a novel SCN9A mutation. This report involves the case of a middle-aged man who suffered from CIP, had repeated painless fractures, and developed bone and joint destruction. The physical and radiological examinations revealed that multiple joints were swollen and deformed, and soft-tissue trauma was evident. We identified a novel homozygous SCN9A mutation (p.Cys1339Arg) by whole-exome sequencing (WES), which was verified using Sanger sequencing. In addition, the wild-type (WT) and mutated p. Cys1339Arg were assessed in HEK293 cells expressing Nav1.7, and the results showed that p. Cys1339Arg almost abolished the Nav1.7 sodium current. In conclusion, Charcot neuroarthropathy associated with CIP demonstrated a wider spectrum of Charcot neuroarthropathy than was previously recognized or documented. In addition, this finding is conducive to understanding the critical amino acids for maintaining the function of Nav1.7, thus contributing to the development of Nav1.7-targeted analgesics.