OpenMed/multicare-articles huggingface dataset:
NRXN1 deletions identified by array comparative genome hybridisation in a clinical case series - further understanding of the relevance of NRXN1 to neurodevelopmental disorders
Authors: Sarah Curran, Joo Wook Ahn, Hannah Grayton, David A Collier, Caroline Mackie Ogilvie
Journal: J Mol Psychiatry (2013)
Keywords: autism spectrum disorders, copy number variants, epilepsy, microcephaly, nrxn1, neurexins, neurodevelopmental disorders

Background:
Microdeletions in the NRXN1 gene have been associated with a range of neurodevelopmental disorders, including autism spectrum disorders, schizophrenia, intellectual disability, speech and language delay, epilepsy and hypotonia.
Results:
In the present study we performed array CGH analysis on 10,397 individuals referred for diagnostic cytogenetic analysis, using a custom oligonucleotide array, which included 215 NRXN1 probes (median spacing 4.9 kb). We found 34 NRXN1 deletions (0.33% of referrals) ranging from 9 to 942 kb in size, of which 18 were exonic (0.17%). Three deletions affected exons also in the beta isoform of NRXN1. No duplications were found. Patients had a range of phenotypes including developmental delay, learning difficulties, attention deficit hyperactivity disorder (ADHD), autism, speech delay, social communication difficulties, epilepsy, behaviour problems and microcephaly. Five patients who had deletions in NRXN1 had a second CNV implicated in neurodevelopmental disorder: a CNTNAP2 and CSMD3 deletion in patients with exonic NRXN1 deletions, and a Williams-Beuren syndrome deletion and two 22q11.2 duplications in patients with intronic NRXN1 deletions.
Conclusions:
Exonic deletions in the NRXN1 gene, predominantly affecting the alpha isoform, were found in patients with a range of neurodevelopmental disorders referred for diagnostic cytogenetic analysis. The targeting of dense oligonucleotide probes to the NRXN1 locus on array comparative hybridisation platforms provides detailed characterisation of deletions in this gene, and is likely to add to understanding of the importance of NRXN1 in neural development.
Simultaneous Oral and Umbilical Locations as a First Sign of Pemphigus Vulgaris
Authors: Eya Moussaoui, Yassine Oueslati, Lamia Oualha, Mohamed Denguezli, Badreddine Sriha, Nabiha Douki
Journal: Case Rep Dent (2021)
MeSH terms: Case Reports

The place of pemphigus vulgaris (PV) among autoimmune bullous diseases (AIBD) is well established. It is an acquired chronic, autoimmune, vesiculobullous disease in which IgG antibodies target desmosomal proteins to produce intraepithelial mucocutaneous blistering. The diagnosis is often challenging for the clinicians. It requires a combination of three major features: clinical, histopathological, and immunological. Clinically, oral lesions are the first manifestations of the disease in 50-90% of the patients with widespread blisters affecting the oral mucosa. On the skin, lesions are characterized by flaccid blisters that rapidly progress into erosions and crust formation. Umbilical lesions as a clinical manifestation of PV are peculiar and have rarely been reported, and they are not yet completely elucidated. Umbilical region involvement in patients with pemphigus was assessed in a limited study totalling just 10 patients. This localisation may be a valuable hint easing the diagnosis at the clinical level for patients with oral mucosal blisters. Dentists must be familiar with the clinical manifestations of PV to make an early diagnosis and start an early treatment which determines the prognosis of the disease. To the best of the authors' knowledge, the coexistence of these lesions with the oral lesions as a first sign of PV in the absence of skin involvement was reported in only one case of pemphigus vegetans (PVe). In this paper, we describe an observation of a female patient that was diagnosed with PV that begun with simultaneous oral and umbilical locations which coexisted for a period of 4 months before the appearance of other cutaneous lesions. We highlight the role of dentists, by being familiar with the clinical manifestations of PV, to make an early diagnosis to start an early treatment which determines the prognosis of the disease and to follow closely the evolution of lesions to change treatment if required. We also discuss the clinical, histological, and immunological features of the disease that enabled the differential diagnosis as well as the appropriate therapeutic management.
Epstein-Barr Virus-Positive Langerhans Cell Sarcoma: Is There a Link? A Case Report
Authors: Yu Guo, Shui-Hong Zhou, Zai-Zai Cao, Yang-Yang Bao, Li-Fang Shen, Hong-Tian Yao
Journal: Front Oncol (2022)
Keywords: cd56, ebv, langerhans cell sarcoma, cervical giant cyst, immunosuppression
MeSH terms: Case Reports

Langerhans cell sarcoma (LCS) is an extremely rare, malignant neoplasm that originates from Langerhans cells (LCs). Fewer than 70 cases have been reported in the English-language literature. LCS typically involves multiple organs, including the skin, lymph nodes, lungs, bone, bone marrow, liver, spleen, and soft tissues. Several etiological factors for LCS have been proposed, including immunosuppression, virus infection, and prior hematological disease. We report a rare case of LCS with Epstein-Barr virus (EBV) infection; bilateral cervical giant cysts were the initial manifestation. To our knowledge, this is the first report of LCS with EBV infection. The case information was complete, and the relevant literature was reviewed to gain insight into LCS. The case raises new questions on the oncogenic character of EBV.
Scurvy: When it is a Forgotten Illness the Surgery Makes the Diagnosis
Authors: Wajdi Bouaziz, Mohamed Ali Rebai, Mohamed Ali Rekik, Nabil Krid, Zoubaier Ellouz, Hassib Keskes
Journal: Open Orthop J (2017)
Keywords: musculoskeletal, osteomyelitis, radiological, scurvy, subperiosteal hematoma, vitamin c
MeSH terms: Case Reports

Background:
Unlike most of animal species, human beings lack the enzymatic process for the conversion of glucose to ascorbic acid (vitaminC), and therefore getting the vitamin from food sources is essential. The association of the various signs caused by a deficiency of vitamin C is called scurvy or Barlow's disease, an easily treatable disease but can be fatal. It is rare in the developed countries and even economically underdeveloped societies in which the basic diet is already rich in ascorbate.
Methods:
We describe here the case of a 4-year-old girl with cerebral palsy, in whom diagnosis concerns were oriented for osteomyelitis, based upon clinical presentation, ultrasonic and magnetic resonance imaging, led to a surgery revealing subperiosteal hematomas that argues in favor of scurvy.
Results:
After vitamin C therapy, the symptoms are gone and the general condition of the patient improved despite persistent radiological signs.
Conclusion:
Recent studies of sporadic cases report a high incidence of scurvy in children with autism or psychomotor retardation and the fact that musculoskeletal manifestations are more common. The mosaics of the symptoms of scurvy are varied and include dermatological, dental, bone and systemic manifestations, making it a forgotten and misdiagnosed illness. A heightened awareness is needed to avoid an unnecessary surgery, unnecessary tests and procedures and to be able to start treatment for a potentially fatal but easily curable disease.
Case report: Early detection of mesenteric ischemia by intravital microscopy in a patient with septic shock
Authors: Janina Praxenthaler, Carmen Kirchner, Elke Schwier, Simon Altmann, Axel Wittmer, Dietrich Henzler, Thomas Köhler
Journal: Front Med (Lausanne) (2022)
Keywords: acute mesenteric ischemia (ami), intensive care, intravital microscopy (ivm), microcirculation, septic shock
MeSH terms: Case Reports

Gut ischemia is a frequent but underdiagnosed complication, especially in critically ill intensive care patients, and represents a special diagnostic challenge that can only be solved in an interdisciplinary manner. We report a case of a 54-year-old woman with acute mesenteric ischemia (AMI) as a cause of septic shock diagnosed by intravital microscopy (IVM) 2 days before visible necrotic changes in a multimodality approach. We show that intravital microscopy can be a serious alternative for the early diagnosis of mesenteric ischemia in the hands of the skilled. We use this case to discuss the value and clinical perspective of IVM in the intensive care setting.
Giant liver abscess with Streptococcus intermedius bacteremia treated without any drainage
Authors: Yo Ishihara, Sayaka Kaneshiro, Yasukazu Ikehara
Journal: IDCases (2022)
Keywords: bacteremia, liver abscess, pyogenic, streptococcus intermedius
MeSH terms: Case Reports

A 66-year-old man with hypertension presented with fever which has started three days prior. Computed tomography (CT) revealed the presence of multiple low-density areas in the liver, the largest of which was over 10 cm in diameter, with clear demarcation. Streptococcus intermedius was detected in the blood culture, thus we diagnosed suspected liver abscess with bacteremia. Because the patient refused invasive drainage and was not poor general appearance, we had initiated intravenous meropenem followed by ceftriaxone plus metronidazole without any abscess drainage. After 6 weeks antibiotics treatment, liver abscess was almost completely diminished on the CT scan. To the best of our knowledge, this is the first report of a giant liver abscess caused by Streptococcus intermedius treated successfully without drainage.
Case Report: Rhabdomyolysis secondary to vildagliptin overdose in a suicidal attempt: A case report and brief literature review
Authors: Zhijia Tang, Xiaofang Fan, Zhen Feng, Bing Han, Nan Guo
Journal: Front Pharmacol (2022)
Keywords: dpp-4 inhibitor, case report, overdose, rhabdomyolysis, vildagliptin
MeSH terms: Case Reports

Rhabdomyolysis is a life-threatening syndrome associated with direct or indirect muscle damage that is rarely reported with dipeptidyl peptidase (DPP)-4 inhibitors. Here we presented a case in which a 58-year-old female suffered from severe swelling and pain in bilateral lower limbs and oliguria after a suicidal vildagliptin overdose. Drug-induced rhabdomyolysis and drug-induced liver injury were diagnosed based on laboratory and radiological findings. The patient was treated with fluid resuscitation, insulin, electrolyte replacement, diuretics, urine alkalizing agents, anticoagulants, antioxidants, and 24-h bedside ECG monitoring and suicide prevention. After 20 days of hospitalization and close monitoring, the patient was discharged without sequelae. Risk factors, diagnostic criteria, disease mechanisms, and outcomes were also discussed. This case illustrated that overdose of oral anti-diabetic medications may result in clinically significant adverse events, such as rhabdomyolysis in this case with a DPP-4 inhibitor. Although the incidence is low, special attention should be paid to intentional or accidental exposure to anti-diabetic medications during suicide attempts, especially in depressed patients with diabetes.
Severe Malaria: A Case of a Significant Rapid Rise in the Parasite Level
Authors: Muhammed Atere, Lloyd Muzangwa, Foma Munoh Kenne, Cherry Hanna, Jessie Saverimuttu, Virginia Kopetz
Journal: Case Rep Infect Dis (2020)
MeSH terms: Case Reports

Malaria is transmitted by the Plasmodium parasite, and most of the cases reported in the United States are often as a result of patients with recent return from endemic areas. Prompt diagnosis and treatment, particularly if there is severe parasitemia and drug failure, is essential in preventing mortality. Our patient had an unusual rapid rise in parasite but susceptible to intravenous artesunate.
Rhabdomyosarcoma of prostate presenting as bladder outlet obstruction in a young adult
Authors: Pranab Prabhakaran, Rajitha Sanjayan, Thara Somanathan, Geetha Narayanan
Journal: Ecancermedicalscience (2013)
Keywords: bladder outlet obstruction, prostate, rhabdomyosarcoma
MeSH terms: Case Reports

A 19-year-old boy presented with bladder outlet obstruction and on evaluation was found to have prostatomegaly, which on biopsy was diagnostic of embryonal rhabdomyosarcoma (RMS). He had pulmonary metastasis and received chemotherapy with cyclophosphamide, doxorubicin, vincristine, actinomycin D, and radical radiotherapy. At one year, his prostatic tumour has resolved completely. Embryonal RMS of prostate occurs more commonly in infancy and childhood, so occurrence in young adults is rare, and a high index of suspicion is essential for early diagnosis and treatment.
A Case of Primary Epstein-Barr Virus Infection Masquerading As Drug Reaction With Eosinophilia and Systemic Symptoms
Authors: Laura J O'Keefe, Kathryn M Burtson
Journal: Cureus (2023)
Keywords: antibiotic reaction, cryptic hepatitis, dress, ebv, ebv hepatitis, ebv-associated hepatitis, hepatitis, macular rash
MeSH terms: Case Reports

In this case report, we discuss the diagnostic dilemma presented by a patient admitted for elevated liver enzymes and rash, who had a history of recent amoxicillin use. This presentation initially appeared to fit the criteria for Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS) syndrome. However, histologic evaluation determined the rash was consistent with Miliaria rubra rather than the lymphocytic infiltrate of DRESS. This necessitated broad diagnostic testing to determine the underlying etiology of the patient's syndrome. Serology subsequently demonstrated primary Epstein-Barr Virus (EBV) infection, which explained her acute liver injury. Her eosinophilia was potentially related to an allergic reaction to surgical tape but was never definitely diagnosed. This case demonstrates the importance of maintaining a wide differential even when clinical diagnostic criteria are apparently met.
Primary eccrine porocarcinoma of the thumb with multiple metastases: a case report and review of the literature
Authors: Connor McGuire, Zahir Fadel, Osama Samargandi, Jason Williams
Journal: Case Reports Plast Surg Hand Surg (2019)
Keywords: porocarcinoma, metastasis, thumb
MeSH terms: Case Reports

We present a case of primary eccrine porocarcinoma of the thumb in a 56-year-old male who ultimately developed multiple metastases. With so few cases of such lesions and their aggressive nature, accurate diagnosis and prompt surgical management is essential.
Case report: A third variant in the 5' UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome
Authors: Francisca Diaz-Gonzalez, Javier M Sacedo-Gutiérrez, Stephen R F Twigg, Eduardo Calpena, Fernando E Carceller-Benito, Manuel Parrón-Pajares, Fernando Santos-Simarro, Karen E Heath
Journal: Front Genet (2023)
Keywords: 5′ utr, saethre-chotzen syndrome, twist1, craniosynostosis, genetics
MeSH terms: Case Reports

Introduction: Saethre-Chotzen syndrome, a craniosynostosis syndrome characterized by the premature closure of the coronal sutures, dysmorphic facial features and limb anomalies, is caused by haploinsufficiency of TWIST1. Although the majority of variants localize in the coding region of the gene, two variants in the 5' UTR have been recently reported to generate novel upstream initiation codons. Methods: Skeletal dysplasia Next-generation sequencing (NGS) panel was used for genetic analysis in a patient with bicoronal synostosis, facial dysmorphisms and limb anomalies. The variant pathogenicity was assessed by a luciferase reporter promoter assay. Results: Here, we describe the identification of a third ATG-creating de novo variant, c.-18C>T, in the 5' UTR of TWIST1 in the patient with a clinical diagnosis of Saethre-Chotzen syndrome. It was predicted to create an out-of-frame new upstream translation initiation codon resulting in a 40 amino acid larger functionally inactive protein. We performed luciferase reporter promoter assays to demonstrate that the variant does indeed reduce translation from the main open reading frame. Conclusion: This is the third variant identified in this region and confirms the introduction of upstream ATGs in the 5' UTR of TWIST1 as a pathogenic mechanism in Saethre-Chotzen syndrome. This case report shows the necessity for performing functional characterization of variants of unknown significance within national health services.
A Case of Cardiac Calcified Amorphous Tumor Presenting with Concomitant ST-Elevation Myocardial Infarction and Occipital Stroke and a Brief Review of the Literature
Authors: Kyaw Kyaw, Htun Latt, Sammy San Myint Aung, Chanwit Roongsritong
Journal: Case Rep Cardiol (2017)
MeSH terms: Case Reports

Cardiac calcified amorphous tumor (CAT) is an extremely rare benign intracavitary tumor of the heart. It may mimic other cardiac tumors and can present with signs or symptoms of systemic embolization. There are limited data regarding CAT in the literature. We report a case of a 68-year-old woman with a cardiac CAT and mitral annular calcification (MAC), who presented with acute ST-elevation myocardial infarction (STEMI) and occipital stroke. After extensive review of the literature, we believe that this case is possibly the first description of a cardiac CAT presenting with STEMI. The CAT was surgically removed, and the diagnosis was confirmed by histology. The patient tolerated the surgery and reported no events at 6-month follow-up.
Severe Intraoperative Bradycardia during Laparoscopic Cholecystectomy due to Rapid Peritoneal Insufflation
Authors: Mohammed Heyba, Ahmed Khalil, Yasser Elkenany
Journal: Case Rep Anesthesiol (2020)
MeSH terms: Case Reports

Laparoscopy is becoming increasingly popular in gynecological and general surgical operations. There are complications that are inherent to the laparoscopy techniques; amongst them is intraoperative vagal-mediated bradycardia that results from peritoneal stretching. This can occur due to high flow rate of gas during peritoneal insufflation, a practice still happening nowadays. We report a case of a middle-aged hypertensive patient who was undergoing elective laparoscopic cholecystectomy. The patient was assessed more than once preoperatively by the anesthesia team for blood pressure optimization. The patient underwent general anesthesia and developed severe bradycardia immediately after peritoneal insufflation. The management started immediately by stopping the insufflation and deflating the abdomen. Afterwards, atropine was administered intravenously, and CPR was started preemptively according to the ACLS protocol to prevent the patient from progressing into cardiac arrest. She responded to the management and became vitally stable within one minute. After confirming that there was no cardiac or metabolic insult through rapid blood investigations and agreeing that the cause of bradycardia was the rapid insufflation, the surgical team proceeded with the surgery in the same setting using low flow rate of CO2 to achieve pneumoperitoneum. There were no complications in the second time and the operation was completed smoothly. The patient was extubated and shifted to the postanesthesia care unit to monitor her condition. The patient was stable and conscious and later shifted to the wards and discharged on routine follow-up after confirming that there were no complications in the postoperative follow-up. Therefore, it is important to monitor the flow rate of CO2 during peritoneal insufflation in laparoscopic surgery as rapid peritoneal stretch can cause severe bradycardia that might progress into cardiac arrest, especially in hypertensive patients. It is also important for the anesthetist to be vigilant and ready to manage such cases.
Case Report: Repeated Series of Ketamine Infusions in Patients With Treatment-Resistant Depression: Presentation of Five Cases
Authors: Maria Gałuszko-Wȩgielnik, Adam Włodarczyk, Wiesław Jerzy Cubała, Alina Wilkowska, Natalia Górska, Jakub Słupski
Journal: Front Psychiatry (2021)
Keywords: ketamine, multiple administrations, transformative treatment, treatment response, treatment-resistant depression
MeSH terms: Case Reports

Purpose: Approximately 30% of patients with major depressive disorder (MDD) are treatment resistant. There is an unquestionable need for new treatment strategies. Subanesthetic doses of intravenous (IV) ketamine have a rapid antidepressant effect in treatment-resistant depression (TRD). This paper describes the efficacy of repeated series of intravenous ketamine infusions as an add-on treatment in five TRD inpatients. Methods: Eligible patients aged 43-63 were given eight ketamine infusions as an add-on treatment for patients with MDD. The subjects have readministered the intervention due to worsening depressive symptoms. Results: Of the five inpatients given ketamine as a series of eight infusions, one underwent three, and four had two treatment series. Four patients achieved remission after first series and three after the second series of ketamine infusions. The adverse reactions were mild and transient with no sequelae. Limitations: Presented case series applies to short-term intervention with IV ketamine as an add-on therapy. The results cannot be generalized to the long-term maintenance treatment nor other ketamine formulations as well as different administration schedules and dosing. Conclusions: This case series showed efficacy and safety of the repeated series of IV ketamine treatment in TRD in MDD and bipolar disorder type I. The subsequent interventions were safe and observed adverse events were mild and transient. Interestingly, the IV ketamine treatment at successive administrations seems to alter the major depression severity of the next affective episode. There is a critical need for further research regarding IV ketamine treatment effectiveness and long-term safety in future studies.
Alternative treatment for asthma: case study of success of traditional chinese medicine treatment of children from urban areas with different levels of environmental pollution
Authors: Helen Kopnina
Journal: ISRN Allergy (2012)

The present study examined efficacy of traditional Chinese medicine (TCM) treatment in Dutch children with asthma in areas with differing air pollution. The study results indicate that TCM treatment of children living in more polluted urban area is less successful then that of children living in cleaner air area.