OpenMed/multicare-articles huggingface dataset:
Minimally invasive technique for the abscess drainage in lumbosacral tuberculosis using arthroscopy sheath: A case report
Authors: Singkat Dohar Apul Lumban Tobing, Dody Kurniawan
Journal: Int J Surg Case Rep (2020)
Keywords: abscess evacuation, arthroscopy, debridement, lumbosacral tuberculosis, minimally invasive surgery
MeSH terms: Case Reports

Introduction:
Spinal tuberculosis usually affects the thoracolumbar spine, with only 2-3% involving the lumbosacral region. Lumbosacral tuberculosis can lead to the formation of a presacral abscess. For drainage of the spinal abscess, the presacral region is one of the problematic regions to perform. Minimally invasive surgery (MIS) is an essential clinical technique for the debridement of the spinal abscess in order to decrease the morbidity acquired by the patient. We presented a case of lumbosacral tuberculosis treated with abscess evacuation using the MIS technique.
Presentation of case:
A 28-year-old male came with the chief complaint of back pain and a lump in the right groin area for four months before admission. Physical examination showed a lump and bilateral positive straight leg raising. Preoperative Oswestry Disability Index (ODI) and the Japanese Orthopaedic Association (JOA) scores showed moderate disability and normal function, respectively. Radiologic examinations showed signs of lumbosacral tuberculosis. The patient underwent abscess evacuation using MIS of presacral approach as described for axial lumbar interbody fusion (AxiaLIF), and improvement in ODI score was noted.
Discussion:
A presacral approach, as what we performed, is a simple approach that can reach the location of the abscess by using fluoroscopic guidance. Abscess evacuation was confirmed by the presence of clear fluid, which indicated that the caseous material had been removed thoroughly, and also, as the clear fluid was no longer noticed.
Conclusion:
The success of this approach depends on the time of surgery. When surgery is delayed, the granulation tissue has been formed, making minimally invasive techniques for surgical evacuation much more difficult.
An acquired stable variant of a dicentric dic(9;20) and complex karyotype in a Syrian childhood B-acute lymphoblastic leukemia case
Authors: Abdulsamad Wafa, Rami A Jarjour, Abdulmunim Aljapawe, Suher ALmedania, Thomas Liehr, Joana B Melo, Isabel M Carreira, Moneeb A K Othman, Walid Al-Achkar
Journal: Mol Cytogenet (2020)
Keywords: acute lymphoblastic leukemia, array comparative genomic hybridization (acgh), array-based multicolor banding (amcb), complex karyotype, dicentric dic(9, 20), prognostic factors
MeSH terms: Case Reports

Background:
About 25 years ago, the acquired chromosome abnormality dicentric dic(9;20)(p11 ~ 13;q11) was seen described as a non-random aberration in B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Yet, about 200 cases were reported. However, dicentric dic(9;20) is a subtle abnormality which easily may be mixed up with monosomy 20 and/or del(9p). The dicentric dic(9;20) can be found as a sole chromosomal abnormality or can be masked within complex rearrangements; also, a dicentric dic(9;20) is often associated with mono- or biallelic loss of CDKN2A gene.
Case presentation:
Here we report a case of 16-year-old male diagnosed with a de novo pre-B-ALL. Molecular approaches (array-based multicolor banding (aMCB) and array comparative genomic hybridization (aCGH)) were applied, and a unique complex karyotype involving six chromosomes was identified. It included three previously unreported chromosomal aberrations: dicentric dic(9;20;X), deletion del(7)(p22.2p15.2) and dicentric dic(7;13). The dicentric dic(9;20;X) also led to monoallelic loss of tumor suppressor gene CDKN2A. After successful chemotherapeutic treatment the patient experienced a relapse with a secondary ALL without complex karyotype but a deletion del(19)(p13). Unfortunately, the patient died after 17 months of the initial diagnosis.
Conclusions:
To the best of our knowledge, a comparable childhood ALL associated with such complex karyotype and deletion del(19)(p13) in secondary ALL was not previously reported. Thus, the complex karyotype with dicentrc dic(9;20;X) seems to indicate for a poor prognosis.
Aortocaval Fistula: A Rare Complication of an Infrarenal Aortic Aneurysm
Authors: Felix Delbare, Benjamin Leenknegt, Piet Vanhoenacker
Journal: J Belg Soc Radiol (2023)
Keywords: ct angiography, aortic abdominal aneurysm, aortic rupture, aortocaval fistula, peri-aortic hematoma
MeSH terms: Case Reports

Teaching Point: Aortocaval fistula is a rare complication of infrarenal aortic aneurysms.
Acute Myopericarditis after COVID-19 Vaccine in Teenagers
Authors: Shashikanth Ambati, Michael Colon, Maya Mihic, Javier Sanchez, Adnan Bakar
Journal: Case Rep Cardiol (2021)
MeSH terms: Case Reports

Background:
There have been an increasing number of reports of myocarditis and pericarditis in adolescents and young adults after coronavirus disease 19 vaccinations. The pathophysiology of myocarditis after this vaccination is indeterminate currently. The problem is a relatively new phenomenon, and so there are no current guidelines on how to manage these cases of myopericarditis. We intend to describe our management in these two cases so that it can help guide pediatricians, intensivists, and cardiologists taking care of similar cases. Case Summaries. The first case is a young adolescent who presented with chest pain after receiving his second dose of coronavirus disease 19 vaccination with no other symptoms. His troponin was found to be 40 ng/mL. He had a normal echocardiogram and chest CT angiogram. His troponins trended down with symptomatic pain management after 3 days. The second case is another adolescent who presented with fever, fatigue, headache, and chest pain 3 days after receiving his second dose of coronavirus vaccine. His troponin was elevated to 5 ng/mL, electrocardiogram with ST segment elevations, and mildly decreased systolic function on echocardiogram. His troponins and electrocardiogram were normalized in 3 days at the time of his discharge.
Conclusion:
The clinical course of vaccine-associated myocarditis appears favorable as both our patients have responded well to medications and rest with prompt improvement in symptoms with full recovery. The experience remains limited at this time regarding the investigations, management, and follow-up of this novel clinical entity. It is vital for all the health care providers taking care of adolescents to have knowledge about this phenomenon and make correct diagnosis in those presenting with chest pain after COVID-19 vaccine and in preventing unnecessary invasive procedures such as coronary angiogram to rule out acute coronary syndromes.
Chronic, Stromal Foreign Body of Presumed Human Origin, following Corneal Abrasion
Authors: Alexander K Soon, Rookaya Mather
Journal: Case Rep Ophthalmol Med (2019)
MeSH terms: Case Reports

A 30-year-old woman presented with left eye pain and photophobia for over eight weeks. A hair was found to be embedded obliquely within the corneal stroma with overlying reepithelialization. The foreign body had been quiescent for over four years prior to any ocular symptoms. Successful removal of the hair was performed using local anesthetic, jeweler's forceps, a microblade, and a thirty-gauge needle with good visual outcome. We report an interesting case of an acute exacerbation of a previously quiescent, chronic corneal foreign body secondary to what we presume to be human hair following trauma, with only three other cases in the English literature.
Andersen-Tawil Syndrome With Novel Mutation in KCNJ2: Case Report
Authors: Jisook Yim, Kyoung Bo Kim, Minsun Kim, Gun Dong Lee, Myungshin Kim
Journal: Front Pediatr (2022)
Keywords: andersen–tawil syndrome, kcnj2 gene, kir21, dysmorphic feature, genetic disorder, long qt syndrome, periodic paralysis, potassium channel
MeSH terms: Case Reports

Andersen-Tawil syndrome (ATS) is a rare autosomal dominant disorder characterized by a classic symptom triad: periodic paralysis, ventricular arrhythmias associated with prolonged QT interval, and dysmorphic skeletal and facial features. Pathogenic variants of the inwardly rectifying potassium channel subfamily J member 2 (KCNJ2) gene have been linked to the ATS. Herein, we report a novel KCNJ2 causative variant in a proband and her father showing different ATS-associated symptoms. A 15-year-old girl was referred because of episodic weakness and periodic paralysis in both legs for 2-3 months. The symptoms occurred either when she was tired or after strenuous exercise. These attacks made walking or climbing stairs difficult and lasted from one to several days. She had a short stature (142 cm, <3rd percentile) and weighed 40 kg. The proband also showed orbital hypertelorism, dental crowding, mandibular hypoplasia, fifth-digit clinodactyly, and small hands. Scoliosis in the thoracolumbar region was detected by chest X-ray. Since she was 7 years old, she had been treated for arrhythmia-associated long QT interval and underwent periodic echocardiography. Brain MRI revealed cerebrovascular abnormalities indicating absence or hypoplasia of bilateral internal carotid arteries, and compensation of other collateral vessels was observed. There were no specific findings related to intellectual development. The proband's father also had a history of periodic paralysis similar to the proband. He did not show any cardiac symptoms. Interestingly, he was diagnosed with hyperthyroidism during an evaluation for paralytic symptoms. Clinical exome sequencing revealed a novel heterozygous missense variant: Chr17(GRCh37):g.68171593A>T, NM_000891.2:c.413A>T, p.(Glu138Val) in KCNJ2 in the proband and the proband's father.
Penetrating brain injury after suicide attempt with speargun: case study and review of literature
Authors: John R Williams, Daniel M Aghion, Curtis E Doberstein, G Rees Cosgrove, Wael F Asaad
Journal: Front Neurol (2014)
Keywords: ballistic injury, foreign body removal, intracranial antibiotic prophylaxis, neurovascular injury, operative timing, penetrating brain injury, seizure prophylaxis, traumatic brain injury

Penetrating cranial injury by mechanisms other than gunshots are exceedingly rare, and so strategies and guidelines for the management of PBI are largely informed by data from higher-velocity penetrating injuries. Here, we present a case of penetrating brain injury by the low-velocity mechanism of a harpoon from an underwater fishing speargun in an attempted suicide by a 56-year-old Caucasian male. The case raised a number of interesting points in management of low-velocity penetrating brain injury (LVPBI), including benefit in delaying foreign body removal to allow for tamponade; the importance of history-taking in establishing the social/legal significance of the events surrounding the injury; the use of cerebral angiogram in all cases of PBI; advantages of using dual-energy CT to reduce artifact when available; and antibiotic prophylaxis in the context of idiosyncratic histories of usage of penetrating objects before coming in contact with the intracranial environment. We present here the management of the case in full along with an extended discussion and review of existing literature regarding key points in management of LVPBI vs. higher-velocity forms of intracranial injury.
Secondary Leukemia in a non-Hodgkin's Lymphoma Patient Presenting as Myeloid Sarcoma of the Breast
Authors: Vincenzo Pitini, Carmela Arrigo, Maria Grazia Sauta, Giuseppe Altavilla
Journal: Case Rep Hematol (2011)
MeSH terms: Case Reports

As defined by the World Health Organization classification of tumors of hematopoietic and lymphoid tissue, myeloid sarcoma (MS) is a tumor mass of myeloblasts or immature myeloid cells that can arise before, concurrent with, or following acute myeloid leukaemia. We describe a case of secondary leukemia presenting itself as MS of the breast in a patient previously treated for a non-Hodgkin's Lymphoma.
Treatment of a Periodontic-Endodontic Lesion in a Patient with Aggressive Periodontitis
Authors: Mina D Fahmy, Paul G Luepke, Mohamed S Ibrahim, Arndt Guentsch
Journal: Case Rep Dent (2016)

Case Description. This case report describes the successful management of a left mandibular first molar with a combined periodontic-endodontic lesion in a 35-year-old Caucasian woman with aggressive periodontitis using a concerted approach including endodontic treatment, periodontal therapy, and a periodontal regenerative procedure using an enamel matrix derivate. In spite of anticipated poor prognosis, the tooth lesion healed. This case report also discusses the rationale behind different treatment interventions. Practical Implication. Periodontic-endodontic lesions can be successfully treated if dental professionals follow a concerted treatment protocol that integrates endodontic and periodontic specialties. General dentists can be the gatekeepers in managing these cases.
Trichobezoar in a young girl caused by ingestion of bristles brush for more than a decade: A case report
Authors: Ahmad Al-Mouakeh, Mohammad Nour Shashaa, Muhamad Zakaria Brimo Alsaman, Aya Zazo, Mohamad Shadi Alkarrash, Rama Zazo, Ammar Niazi
Journal: Int J Surg Case Rep (2019)
Keywords: bowel obstruction, bristle brush, hair, mass, psychiatric disorders, trichobezoar

Introduction:
Trichobezoar is a rare cause of bowel obstruction. In general, Trichobezoars are composed of hair and usually found incidentally in patients undergoing upper gastrointestinal endoscopy or imaging. Patients diagnosed with Trichobezoar may have psychiatric disorders.
Discussion:
Trichobezoars cause nonspecific symptoms like asymptomatic abdominal mass, vomiting, nausea, and anorexia. Diagnosis of Trichobezoar is made by endoscopic examination and radiological methods. Therapeutic options for trichobeazoar are chemical dissolution, endoscopic removal or surgery.
Case presentation:
Here we present a case of an 18-year-old girl who has a unique type of Trichobezoars caused by ingestion of hair and bristle clothes brush for 14 years. She presented to the surgical clinic complaining of vomiting, anorexia and epigastric mass. Abdominal computed tomography scanner showed nonattached intragastric mass which was consistent with trichobezoar. The patient was managed by surgical removal of the intragastric mass.
Conclusion:
Trichobezoar is caused by chronic ingestion of hair; it is commonly seen in young females who may have psychological disorders, such as trichophagia and trichotillomania. Common symptoms are abdominal pain, nausea, vomiting, and weight loss. Surgical intervention is performed for the majority of the patients.
Case Report: Extended Clinical Spectrum of the Neonatal Diabetes With Congenital Hypothyroidism Syndrome
Authors: Vera Splittstoesser, Heike Vollbach, Michaela Plamper, Werner Garbe, Elisa De Franco, Jayne A L Houghton, Gesche Dueker, Rainer Ganschow, Bettina Gohlke, Felix Schreiner
Journal: Front Endocrinol (Lausanne) (2021)
Keywords: glis3, anemia, cholestasis, exocrine pancreatic insufficiency, megalocornea, neonatal diabetes
MeSH terms: Congenital Hypothyroidism / pathology, DNA-Binding Proteins / genetics, Diabetes Mellitus / pathology, Mutation, Phenotype, Repressor Proteins / genetics, Trans-Activators / genetics, Case Reports, Research Support, Non-U.S. Gov't, Congenital Hypothyroidism / genetics, Diabetes Mellitus / genetics, Humans, Infant, Male, Prognosis, DNA-Binding Proteins, GLIS3 protein, human, Repressor Proteins, Trans-Activators, Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism

Background:
Neonatal diabetes with congenital hypothyroidism (NDH) syndrome is a rare condition caused by homozygous or compound heterozygous mutations in the GLI-similar 3 coding gene GLIS3. Almost 20 patients have been reported to date, with significant phenotypic variability.
Case presentation:
We describe a boy with a homozygous deletion (exons 5-9) in the GLIS3 gene, who presents novel clinical aspects not reported previously. In addition to neonatal diabetes, congenital hypothyroidism and other known multi-organ manifestations such as cholestasis and renal cysts, he suffered from hyporegenerative anemia during the first four months of life and presents megalocornea in the absence of elevated intraocular pressure. Compensation of partial exocrine pancreatic insufficiency and deficiencies in antioxidative vitamins seemed to have exerted marked beneficial impact on several disease symptoms including cholestasis and TSH resistance, although a causal relation is difficult to prove. Considering reports on persistent fetal hemoglobin detected in a few children with GLIS3 mutations, the transient anemia seen in our patient may represent a further symptom associated with either the GLIS3 defect itself or, secondarily, micronutrient deficiency related to exocrine pancreatic deficiency or cholestasis.
Conclusions:
Our report expands the phenotypic spectrum of patients with GLIS3 mutations and adds important information on the clinical course, highlighting the possible beneficial effects of pancreatic enzyme and antioxidative vitamin substitutions on characteristic NDH syndrome manifestations such as TSH resistance and cholestasis. We recommend to carefully screen infants with GLIS3 mutations for subtle biochemical signs of partial exocrine pancreatic deficiency or to discuss exploratory administration of pancreatic enzymes and antioxidative vitamins, even in case of good weight gain and fecal elastase concentrations in the low-to-normal range.
Simultaneous Subconjunctival Triamcinolone and Bevacizumab Injections for Management of Blepharokeratoconjunctivitis in Children
Authors: Chu Luan Nguyen, Tony S Chen, Khoi Tran, James E H Smith, Noni Lewis
Journal: Case Rep Ophthalmol Med (2018)
MeSH terms: Case Reports

Purpose:
To report the efficacy of subconjunctival triamcinolone (Kenalog A-40, Alcon) and bevacizumab (Avastin, Genentech) injections in fraternal twins with blepharokeratoconjunctivitis (BKC) causing progressive, bilateral corneal neovascularization and scarring.
Methods:
In this retrospective observational case series, two three-year-old male twins with BKC had presented with bilateral red eyes, photophobia, and frequent blinking. Examination of each child showed bilateral deep stromal and superficial corneal neovascularization, corneal infiltrates, multiple follicles on the palpebral conjunctiva bilaterally with blepharitis, and thick turbid sebum expressed from the Meibomian glands. Their disease progressed despite conventional treatment. Both twins were managed with subconjunctival triamcinolone injection and subconjunctival bevacizumab injection of each eye.
Results:
The treatment resulted in improvement of symptoms, and examination over an 8-10-month period postinjections showed fading stromal corneal infiltrates, partially regressed corneal neovascularization, and reduced conjunctival injection without complications.
Conclusion:
This case series highlights the potential vision threatening complications of BKC. In addition to conventional management options, this report is the first published use of subconjunctival triamcinolone and bevacizumab injections for BKC in children in an attempt to minimize and improve corneal neovascularization and scarring and subsequently to retain useful vision.
Rare documented case report of a retroperitoneal hernia as a complication to an anterior retroperitoneal spinal exposure
Authors: Christina Colosimo, Naveed Ismail, Jonathan Schoeff, Chris Geiger, David Lundy
Journal: Int J Surg Case Rep (2018)
Keywords: anterior retroperitoneal spinal exposure, internal hernia, peritoneal disruption, retroperitoneal hernia, small bowel obstruction

Introduction:
Anterior retroperitoneal spinal exposures are widely used today for spinal surgeries. Incisional hernias are a documented complication of anterior spine exposures; however, there are no documented cases of hernias into the dissected retroperitoneal space. We presented this exceptionally rare patient's complication to underscores the critical importance of preserving the peritoneum as a biologic barrier during retroperitoneal spine exposures.
Presentation of case:
An obese 54 year-old female with a history of two recurrent small bowel obstructions treated conservatively after a retroperitoneal spinal exposure presented with another small bowel obstruction. The patient was taken to the operating room for exploratory laparotomy. Intraoperatively, the patient was found to have multiple loops of small bowel herniated through a small defect in the peritoneum. The small bowel was severely adherent to the retroperitoneum, resulting in torsion and obstruction.
Discussion:
Based on intraoperative findings, we feel that the retroperitoneal hernia was directly related to the anterior lumbar spine exposure, in which peritoneal disruption is a well-reported phenomenon. There was mention of a peritoneal defect noted during the spine exposure procedure, with attempts to primarily close the defect.
Conclusion:
While disruption of the peritoneum occurs not infrequently during these primarily retroperitoneal procedures, this case should serve as a cautionary tale and reinforce the need for identification and immediate repair of any peritoneal defects that may be created during this type of procedure.
Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies
Authors: Charuta Joshi, Diana L Kolbe, M Adela Mansilla, Sara O Mason, Richard J H Smith, Colleen A Campbell
Journal: Biomed Res Int (2016)
MeSH terms: Brain Diseases / diagnosis, Brain Diseases / economics, Diagnostic Tests, Routine / economics, Epilepsy / diagnosis, Epilepsy / economics, Case Reports, Age of Onset, Brain Diseases / complications, Child, Child, Preschool, Epilepsy / complications, Exome, Female, Genetic Testing / methods, Genomics, Genotype, Health Care Costs, Humans, Infant, Insurance, Health, Male, Medicaid, Phenotype, Sequence Analysis, DNA, Time-to-Treatment, United States

Whole exome sequencing (WES) has revolutionized the way we think about and diagnose epileptic encephalopathies. Multiple recent review articles discuss the benefits of WES and suggest various algorithms to follow for determining the etiology of epileptic encephalopathies. Incorporation of WES in these algorithms is leading to the discovery of new genetic diagnoses of early onset epileptic encephalopathies (EOEEs) at a rapid rate; however, WES is not yet a universally utilized diagnostic tool. Clinical WES may be underutilized due to provider discomfort in ordering the test or perceived costliness. At our hospital WES is not routinely performed for patients with EOEE due to limited insurance reimbursement. In fact for any patient with noncommercial insurance (Medicaid) the institution does not allow sending out WES as this is not "established"/"proven to be highly useful and cost effective"/"approved test" in patients with epilepsy. Recently, we performed WES on four patients from three families and identified novel mutations in known epilepsy genes in all four cases. These patients had State Medicaid as their insurance carrier and were followed up for several years for EOEE while being worked up using the traditional/approved testing methods. Following a recently proposed diagnostic pathway, we analyzed the cost savings (US dollars) that could be accrued if WES was performed earlier in the diagnostic odyssey. This is the first publication that addresses the dollar cost of traditional testing in EOEE as performed in these four cases versus WES and the potential cost savings.