OpenMed/multicare-articles huggingface dataset:
An Adolescent with a Rare De Novo Distal Trisomy 6p and Distal Monosomy 6q Chromosomal Combination
Authors: Leia A Peterman, Gail H Vance, Erin E Conboy, Katelynn Anderson, David D Weaver
Journal: Case Rep Genet (2020)
MeSH terms: Case Reports

We report on a 12-year-old female with both a partial duplication and deletion involving chromosome 6. The duplication involves 6p25.3p24.3 (7.585 Mb) while the deletion includes 6q27q27 (6.244 Mb). This chromosomal abnormality is also described as distal trisomy 6p and distal monosomy 6q. The patient has a Chiari II malformation, hydrocephalus, agenesis of the corpus callosum, microcephaly, bilateral renal duplicated collecting system, scoliosis, and myelomeningocele associated with a neurogenic bladder and bladder reflux. Additional features have included seizures, feeding dysfunction, failure to thrive, sleep apnea, global developmental delay, intellectual disability, and absent speech. To our knowledge, our report is just the sixth case in the literature with concomitant distal 6p duplication and distal 6q deletion. Although a majority of chromosomal duplication-deletion cases have resulted from a parental pericentric inversion, the parents of our case have normal chromosomes. This is the first reported de novo case of distal 6p duplication and distal 6q deletion. Alternate explanations for the origin of the patient's chromosome abnormalities include parental gonadal mosaicism, nonallelic homologous recombination, or potentially intrachromosomal transposition of the telomeres of chromosome 6. Nonpaternity was considered but ruled out by whole exome sequencing analysis.
Bleeding From Left Atrial Appendage During Atrial Septal Defect Closure Through Right Anterolateral Thoracotomy: An Unusual Complication
Authors: Satyapriya Mohanty, Arvind Pandey, Firdoos Ahmad Mir, Anindya Banerjee, Debasish Das
Journal: Cureus (2023)
Keywords: atrial septal defect, bleeding, left atrial appendage, phrenic nerve injury, surgery
MeSH terms: Case Reports

Anterolateral thoracotomy is frequently used for the closure of ostium secundum atrial septal defect (ASD). The cosmetic result has become an important feature. There are various complications of anterolateral thoracotomy like persistent postoperative pain, phrenic nerve injury, atelectasis, and bleeding. We report a case of ASD closure through anterolateral thoracotomy who had bleeding of the left atrial appendage (LAA), which is an unusual and rare complication.
Concomitant Interstitial Lung Disease with Psoriasis
Authors: Genta Ishikawa, Sakshi Dua, Aditi Mathur, Samuel O Acquah, Mary Salvatore, Mary B Beasley, Maria L Padilla
Journal: Can Respir J (2019)
MeSH terms: Lung Diseases, Interstitial / complications, Psoriasis / complications, Aged, Aged, 80 and over, Female, Humans, Lung Diseases, Interstitial / diagnostic imaging, Lung Diseases, Interstitial / drug therapy, Male, Middle Aged, Pilot Projects, Retrospective Studies

Background:
We encounter interstitial lung disease (ILD) patients with psoriasis. The aim of this case series was to examine clinical and radiographic characteristics of patients with concomitant psoriasis and ILD.
Methods:
This is a retrospective review of our institutional experience of ILD concomitant with psoriasis, from the database in the Advanced Lung/Interstitial Lung Disease Program at the Mount Sinai Hospital. Out of 447 ILD patients, we identified 21 (4.7%) with antecedent or concomitant diagnosis of psoriasis. Clinical, radiographic, pathological, and outcome data were abstracted from our medical records.
Results:
Median age was 66 years (range, 46-86) and 14 (66.7%) were male. Thirteen (61.9%) had not previously or concomitantly been exposed to immunosuppressive therapy directed against psoriasis. Two (9.5%) ultimately died. Clinical diagnosis of ILD included idiopathic pulmonary fibrosis, 11 (52.4%); nonspecific interstitial pneumonia (NSIP), 2 (9.5%); cryptogenic organizing pneumonia, 2 (9.5%); chronic hypersensitivity pneumonitis, 2 (9.5%); and the others, while radiographic diagnosis included usual interstitial pneumonia pattern, 9 (42.9%); NSIP pattern, 6 (28.6%); organizing pneumonia pattern, 4 (19.0%); hypersensitivity pneumonitis pattern, 2 (9.5%); and the others.
Conclusions:
We report 21 ILD cases with antecedent or concomitant diagnosis of psoriasis. Further prospective studies are required to determine the association between ILD and psoriasis.
Literature meta-analysis of zosteriform cutaneous metastases from melanoma and a clinico-histopathological report from India
Authors: Savita Chaudhary, Cherry Bansal, Ayanat Husain
Journal: Ecancermedicalscience (2013)
Keywords: carcinoma, herpes zoster, melanoma, meta-analysis, secondary, skin neoplasm
MeSH terms: Case Reports

Cutaneous metastases in patients with malignant tumours are an important clue to tumour progression or even the first manifestation of malignancy. Among the various topographic patterns of cutaneous metastasis, the zosteriform pattern of metastasis is rare, and very few cases have been published. Various theories have been proposed for this zosteriform pattern of metastases, but none have been proved. We collected the available PubMed articles on zosteriform skin metastasis from cutaneous melanoma published since 1970 and reviewed the cases, including our own case. Melanoma presents with cutaneous metastasis in up to 44% of patients. Clinicians treating oncology patients should consider zosteriform skin metastasis in the differential diagnosis of zosteriform lesions to avoid inadequate diagnosis and management.
Durable remission of acute myeloid leukemia in an elderly patient following a limited course of azacitidine and venetoclax
Authors: Hamid Ehsan, Qamar Iqbal, Adeel Masood, Michael R Grunwald
Journal: Leuk Res Rep (2022)
Keywords: acute myeloid leukemia (aml), azacitidine, elderly aml, relapsed/refractory aml, secondary aml, transplant ineligible aml, venetoclax
MeSH terms: Case Reports

Acute myeloid leukemia (AML) is a heterogeneous hematological malignancy characterized by clonal expansion of myeloid blasts. It is the most common type of acute leukemia in adults, including elderly patients, and has historically been associated with poor outcomes in this age group. Here, we present the case of an 80-year-old woman with newly diagnosed AML with myelodysplasia-related changes. She was treated with a total of five cycles of azacitidine, two cycles as monotherapy followed by three cycles in combination with venetoclax. Therapy was stopped due to cytopenias and declining performance status. Bone marrow aspirate and biopsy immediately following treatment and again approximately four months later did not show any morphologic, immunophenotypic, or cytogenetic evidence of leukemia. The patient's clinical and performance status improved significantly with time. Follow-up labs more than three years following the completion of treatment reveal continued hematologic remission. A short treatment course of azacitidine and venetoclax with close monitoring may lead to durable responses in some patients. Further studies are necessary to determine which patients might be appropriate for treatment suspension or discontinuation while in remission.
Multidisciplinary management of a fractured premolar: a case report with followup
Authors: Madhavi R Kondapuram Seshu, Christopher Leslie Gash
Journal: Case Rep Dent (2012)

The general dental practitioner must consider orthodontic extrusion of a tooth when a subgingival defect, such as, crown fracture occurs before prosthetic rehabilitation, especially in the aesthetic zone. Extrusion enables the root portion to be elevated which exposes sound tooth structure for placement of restorative margins. This case report describes the multidisciplinary management of a fractured upper first premolar in a general dental practice. The forced orthodontic eruption is achieved by an endodontic attachment and sectional fixed appliance with an offset placed in the wire. The ability to extrude premolars with this method is complicated by heavy occlusal forces, occlusal interferences, and short clinical crown length. The tooth was restored with a titanium post, composite core, and porcelain fused to metal crown. The entire course of treatment was carried out under National Health Scheme, UK and as a part of vocational training. The 21 months followup showed no change in occlusal contacts or gingival level.
Pasteurella multocida urinary tract infection in a patient with cervical cancer
Authors: Manmeet B Singh, Amanda T Harrington
Journal: JMM Case Rep (2017)
Keywords: pasteurella multocida, cervical cancer, urinary tract infection
MeSH terms: Case Reports

Introduction. Infections caused by Pasteurella species are commonly associated with contact with dogs and cats, typically involving bites and scratches, but casual contact with household pets can also be a risk factor. Urinary tract infection (UTI) caused by Pasteurella species is rare and a significant majority of cases have some known risk factor associated with an underlying chronic illness or structural and/or functional urological abnormality. Case presentation. Here, we present a case of a UTI due to Pasteurella multocida in a patient with squamous cell carcinoma of the cervix who also had a household cat. Conclusion. Providers and laboratorians should be aware of risk factors associated with UTIs caused by Pasteurella species.
Cardiac resynchronization therapy in children
Authors: Anjan S Batra, Seshadri Balaji
Journal: Curr Cardiol Rev (2009)

Cardiac Resynchronization therapy has become an important management tool in adults with heart failure and dilated cardiomyopathy. The role of CRT in children with CHF is still unclear. Evidence is slowly emerging in the pediatric cardiology literature that CRT may have an important and useful role in certain select populations with CHF. These include patients with complete heart block who develop pacing-induced cardiomyopathy, certain forms of congenital heart disease associated with systemic ventricular failure (even if the systemic ventricle is a morphologic RV) and in patients with idiopathic dilated cardiomyopathy. Studies in children supporting the use of CRT include many case reports, a few studies of CRT in post-operative patients, and one multi-center registry reporting the use of CRT in children. These papers will be summarized.
Intravesical Oxybutynin for Urgent Bladder Rescue in a Newborn with Posterior Urethral Valves
Authors: Ada Molina Caballero, Alberto Pérez Martínez, Concepción Goñi Orayen, Gemma Sierra Colomina, Ana Lavilla Oiz, Yolanda Armendariz Cuevas
Journal: European J Pediatr Surg Rep (2019)
Keywords: detrusor hypertrophy, intravesical, oxybutynin, posterior urethral valves
MeSH terms: Case Reports

Posterior urethral valves are the most common cause of bladder outlet obstruction in male newborns. Initial catheter drainage alleviates the urethral obstruction before definitive management by valve ablation. Newborns with posterior urethral valves often present with hypercontractile bladders that may inhibit upper tract drainage despite bladder catheterization. Anticholinergic agents are commonly used to treat detrusor hyperactivity, with oxybutynin being the most commonly used. We report the first case of a newborn with posterior urethral valves and ureterovesical junction obstruction caused by detrusor hypertrophy who underwent urgent intravesical instillation of oxybutynin at high doses in an attempt to avoid a diversion procedure.
The Art of Holding Perinatal Women in Distress
Authors: Karen Kleiman, Hilary Waller
Journal: Womens Health Rep (New Rochelle) (2023)
Keywords: holding environment, perinatal distress, perinatal mental health, postpartum, postpartum depression, supportive psychotherapy, therapeutic alliance
MeSH terms: Case Reports

Therapies like cognitive behavioral therapy and interpersonal psychotherapy are regarded as highly effective treatments for perinatal mood and anxiety disorders. Therapists appreciate robust research supporting the efficacy of these evidenced-based treatments and the structure of the tools these therapies provide for effective intervention. Less has been written on supportive psychotherapeutic techniques and few of those writings provide instruction or tools for therapists who wish to strengthen their skills in this therapeutic approach. This article describes The Art of Holding Perinatal Women in Distress™, a model of perinatal treatment developed by Karen Kleiman, MSW, LCSW. Kleiman instructs therapists to incorporate six "Holding Points" into their approach to therapeutic assessment and intervention for the purpose of establishing a holding environment conducive to the release of authentic suffering. This article reviews the Holding Points and provides a case study that elucidates how the holding points function within the context of a therapy session.
A Rare Case of Kikuchi Fujimoto's Disease with Subsequent Development of Systemic Lupus Erythematosus
Authors: Yu Zuo, Michelle Foshat, You-Wen Qian, Brent Kelly, Brock Harper, Bernard Karnath
Journal: Case Rep Rheumatol (2012)

Kikuchi Fujimoto's disease (KFD) is a rare, immune-mediated, self-limiting disorder with unique histopathological features. KFD is usually seen in young Asian females; however, cases have been reported throughout the world and in all ethnicities. It has been recognized that there is a rare association between Systemic Lupus Erythematosus (SLE) and KFD via sporadic case reports. The exact pathophysiological relationship between these two diseases is still unclear. We report a case of a young Asian female who presented with persistent fever and lymphadenopathy and was diagnosed with Kikuchi Fujimoto's disease based on lymph node biopsy; although an SLE workup was done, she did not meet the American Rheumatology Association (ARA) diagnostic criteria for lupus, and the lymph node biopsy did not show features of SLE. She improved clinically with a short course of steroid therapy. Two months later, the patient presented with central facial rash and arthralgia. SLE workup was repeated, a skin biopsy was done, and the results at this time supported a diagnosis of SLE.
Postvaginal delivery caecal volvulus and perforation
Authors: M M Abdullah Agha
Journal: Case Rep Obstet Gynecol (2012)
MeSH terms: Case Reports

Intestinal obstruction is an uncommon complication of pregnancy and pueperium. It has different etiologies and voluvlus is one of the common causes. High index of suspicion is needed to diagnose it as initial presentation is nonspecific and that is critical to avoid adverse outcomes. We presented here one of these cases that followed vaginal delivery and ended with caecal perforation and hemicolectomy.
Case report: Isoflurane therapy in a case of status asthmaticus requiring extracorporeal membrane oxygenation
Authors: Brendan Gill, Jason L Bartock, Emily Damuth, Nitin Puri, Adam Green
Journal: Front Med (Lausanne) (2022)
Keywords: ecmo–extracorporeal membrane oxygenation, anesthetics
MeSH terms: Case Reports

Volatile anesthetics have been described as a rescue therapy for patients with refractory status asthmaticus (SA), and the use of isoflurane for this indication has been reported since the 1980s. Much of the literature reports good outcomes when inhaled isoflurane is used as a rescue therapy for patients for refractory SA. Venovenous (VV) extracorporeal membrane oxygenation (ECMO) is a mode of mechanical circulatory support that is usually employed as a potentially lifesaving intervention in patients who have high risk of mortality, primarily for underlying pulmonary pathology. VV ECMO is usually only considered in cases where patients gas exchange cannot be satisfactorily maintained by conventional therapy and mechanical ventilation strategies. We report the novel use of isoflurane delivered systemically as treatment for severe refractory SA in a patient on VV ECMO. A 51-year-old male with a history of asthma was transferred from another institution for management of severe SA. He was intubated at the referring hospital after failing non-invasive ventilation. Initial arterial blood gas (ABG) showed pH 7.21, partial pressure of carbon dioxide (PCO2) >95 mmHg, and partial pressure of oxygen (PaO2) 60 mmHg. VV ECMO was initiated on hospital day (HD) 1 due to refractory respiratory acidosis. After ECMO initiation, acid-base status improved, however, severe bronchospasm persisted and intrinsic positive end expiratory pressure (PEEP) was measured at 18 cm H2O. Systemic paralysis was employed, respiratory rate (RR) was reduced to 4 breaths per minute. This degree of bronchospasm did not allow for ECMO weaning. On HD 5, the patient received systemic isoflurane via the ECMO circuit for 20 h. The following morning, intrinsic PEEP was 4 cm H2O, and wheezing improved. He was decannulated from VV ECMO on HD 10 and extubated on HD 17. Inhaled isoflurane therapy in patients on VV ECMO for refractory SA has shown good results, but requires delivery of the medication via anesthesia ventilators. Our case highlights an effective alternative, systemic delivery of anesthetic via the ECMO circuit, as it is often difficult and dangerous to transport these patients to the operating room (OR) or have an intensive care unit (ICU) room adjusted to accommodate an anesthesia ventilator.
Combination of Modified Bentall Procedure and Orthotopic Liver Transplantation
Authors: Philipp C Seppelt, Rebecca von Haken, Jens Werner, Klaus Kallenbach
Journal: Case Rep Transplant (2018)
MeSH terms: Case Reports

Indication for combined cardiac surgery and orthotopic liver transplantation is rare and patients are at high risks. Individual surgical strategy must be developed since a general standard of such procedure does not exist. We report the case of a 45-year-old woman who underwent simultaneously modified Bentall procedure and orthotopic liver transplantation. Underlying diseases were end-stage polycystic liver, aneurysm of the ascending aorta, and severe aortic regurgitation. To avoid prolonged bypass times, both teams worked simultaneously. During cardiac reperfusion, time inferior vena cava stayed ligated while the cyst liver was explanted.
Eosinophilic enterocolitis diagnosed by means of upper endoscopy and colonoscopy with random biopsies treated with budenoside: a case report and review of the literature
Authors: Ghulamullah Shahzad, Duane Moise, Seth Lipka, Kaleem Rizvon, Paul J Mustacchia
Journal: ISRN Gastroenterol (2011)
MeSH terms: Case Reports

Intense infiltration of gastrointestinal and colonic mucosa with eosinophils or acidophilic gastroenteritis (EG) is a relatively uncommon picture for a pathologist endoscopist especially outside the pediatric age group and is highly suggestive of an ongoing chronic inflammatory process. Existing literature projected a hypothetical association with allergy but the exact pathophysiology is still unknown. Association with malabsorption, protein losing enteropathy, and refractory ulcers with gastrointestinal bleeding makes the clinical presentation more complicated. We present a unique case of diarrhea and abdominal pain in the clinical presentation with associated peripheral eosinophilia, asthma, and gastroesophageal reflux disease (GERD). The patient's symptoms abated after initiation of budesonide.
Posterior semicircular canal ossification following acute vestibular loss mimicking inferior vestibular neuritis: A case report
Authors: Francesco Comacchio, Andrea Castellucci
Journal: Front Neurol (2022)
Keywords: acute vestibular loss, case report, inferior vestibular neuritits, labyrinthine ischemia, labyrinthine ossification, video head impulse test
MeSH terms: Case Reports

Vestibular neuritis (VN) mostly involves the superior vestibular nerve. Isolated inferior vestibular neuritis (IVN) has been more rarely described. The diagnosis of IVN is based on an abnormal head impulse test (HIT) for the posterior semicircular canal (PSC), pathological cervical vestibular-evoked myogenic potentials (C-VEMPs), and spontaneous downbeat nystagmus consistent with acute functional loss of inner ear sensors lying within the inferior part of the labyrinth. HIT for both lateral and superior semicircular canals is normal, as are ocular VEMPs and bithermal caloric irrigations. The etiology of IVN is debated since peripheral acute vestibular loss with a similar lesion pattern can often be associated with ipsilesional sudden hearing loss (HL). Viral inflammation of vestibular nerves is considered the most likely cause, although reports suggest that VN usually spares the inferior division. On the other hand, an ischemic lesion involving the terminal branches of the common cochlear artery has been hypothesized in cases with concurrent HL. Debated is also the lesion site in the case of IVN without HL since different instrumental patterns have been documented. Either isolated posterior ampullary nerve involvement presenting with selective PSC functional loss on video-HIT, or only saccular lesion with isolated ipsilesional C-VEMPs impairment, or inferior vestibular nerve damage (including both saccular and posterior ampullary afferents) exhibiting an impairment of both C-VEMPs and PSC-HIT. We report an interesting case of a patient with an acute vestibular loss consistent with IVN without HL who developed a PSC ossification on follow-up, questioning the viral origin of the lesion and rather orienting toward an occlusion of the posterior vestibular artery. To the best of our knowledge, this is the first report of PSC ossification after a clinical picture consistent with IVN.
The Cytoreductive Effect of Radiotherapy for Small Cell Ovarian Carcinoma of the Pulmonary Type: A Case Report and Review of the Literature
Authors: Shuhei Terada, Takashi Suzuki, Akihiro Hasegawa, Satoru Nakayama, Hiroshi Adachi
Journal: Case Rep Obstet Gynecol (2018)
MeSH terms: Case Reports

Small cell ovarian carcinoma of the pulmonary type is a rare and highly aggressive tumor for which a suitable treatment strategy has not been established. A 45-year-old woman presented with abdominal swelling, and primary ovarian carcinoma was suspected. The postoperative pathological diagnosis was small cell ovarian carcinoma of the pulmonary type. She also had complicated grade 1 endometrioid carcinoma of the uterine corpus. Three courses of cisplatin and etoposide therapy were administered as adjuvant chemotherapy. Because the tumor was chemotherapy resistant, she underwent palliative abdominal irradiation at a dose of 26 Gy in 13 fractions, which induced cytoreduction and provided symptomatic relief. She died 4 months after surgery. Lactate dehydrogenase was a useful tumor marker during treatment. Here, we present an extremely rare case of a patient with small cell ovarian carcinoma of the pulmonary type treated with radiotherapy after surgery and chemotherapy.