OpenMed/multicare-articles huggingface dataset:
A Case of Heparin-Induced Thrombocytopenia That Developed in the Therapeutic Course of Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis
Authors: Taketoshi Nonaka, Makoto Harada, Masahiko Sumi, Wataru Ishii, Tohru Ichikawa, Mamoru Kobayashi
Journal: Case Rep Rheumatol (2019)
MeSH terms: Case Reports

Background:
Heparin-induced thrombocytopenia (HIT) causes thrombocytopenia via an immunological mechanism, resulting in severe organ injury due to arterial-venous thrombosis. HIT often develops in hemodialysis patients owing to heparin use. Anti-neutrophil cytoplasmic antibody-associated vasculitis (AAV) is a systemic vasculitis, and cases of AAV complicated with HIT are rare. In addition, it mostly occurs in patients undergoing hemodialysis.
Case presentation:
An 87-year-old woman presented with rapidly progressive renal failure and severe leg edema. She was diagnosed with AAV and treated with glucocorticoid and heparin calcium to prevent deep vein thrombosis. Eight days after the start of heparin calcium, her platelet count decreased and the anti-platelet factor 4-heparin complex antibody was strongly positive (>5.0 U/mL; the cutoff point of the anti-platelet factor 4-heparin complex antibody evaluated by the latex turbidity assay is 1.0 U/mL). She was diagnosed with HIT and treated with argatroban. Subsequently, her platelet counts increased gradually.
Conclusion:
We encountered a case of HIT that developed prior to the induction of hemodialysis in the clinical course of AAV. When AAV clinical course presents thrombocytopenia, the possibility of HIT should be considered.
Isotretinoin-Induced Distal Ileitis Mimicking Crohn's Disease
Authors: Joana Pereira-Nunes, Gabriela Reis, Susana Teixeira, Nélia S Gaspar, Céu Espinheira, Eunice Trindade
Journal: Cureus (2023)
Keywords: crohn’s disease, drug-induced bowel injury, ileitis, inflammatory bowel disease, isotretinoin
MeSH terms: Case Reports

Terminal ileitis is a common condition defined as inflammation of the terminal portion of the ileum, which is typically associated with inflammatory bowel disease (IBD), classically Crohn's disease (CD). However, it can have other etiologies, including drug-induced ones. Isotretinoin is an effective and commonly used treatment for acne vulgaris, presenting multiple adverse effects. There have been discussions over its association with enteric inflammation, particularly over IBD emergence risk. We report a case of a previously healthy 17-year-old female who presented transitory clinical, laboratory, imaging, and endoscopic evidence of distal ileitis, temporally related to extended isotretinoin treatment and mimicking CD. Repeated clinical, laboratory, imaging, and endoscopic reassessment after isotretinoin discontinuation confirmed an almost complete resolution of the condition, avoiding IBD misdiagnosis and specific medication initiation. Our case highlights the differential diagnosis of ileitis as being of critical importance to avoid further unnecessary diagnostic investigations and inadequate treatment. Serial re-evaluation may be of key importance to reach a final diagnosis. Although recent literature suggests that isotretinoin is not associated with an increased IBD risk, our case highlights the possibility of it inducing small bowel injury and inflammation, similar to what has been reported with other drugs.
Symptomatic unilateral pleural effusion: A rare presentation of ovarian hyperstimulation syndrome
Authors: Korula George, Tk Aleyamma, Ms Kamath, A Chandy, Ann M Mangalaraj, K Muthukumar, V Londhe
Journal: J Hum Reprod Sci (2010)
Keywords: in-vitro fertilization, ovarian hyperstimulation syndrome, pleural effusion
MeSH terms: Case Reports

Isolated pleural effusion is a rare presentation of ovarian hyperstimulation syndrome. The pathogenesis of this disorder has not been fully elucidated. It supports the role of systemic factors rather than transudation of fluid from the surface of enlarged ovaries. This article describes a rare case of isolated pleural effusion following controlled ovarian hyperstimulation during an in-vitro fertilization cycle.
Vomiting in newborns as a result of a duodenal membrane: two case reports
Authors: Gabriela Bonente Herculano de Andrade, Barbara Said Marin, Daniela Nasu Monteiro Medeiros, Mauricio Gustavo Ieiri Yamanari, Eduardo Juan Troster
Journal: Einstein (Sao Paulo) (2020)
MeSH terms: Duodenum / diagnostic imaging, Gastroesophageal Reflux / diagnostic imaging, Vomiting / etiology, Case Reports, Diagnosis, Differential, Esophagus / diagnostic imaging, Female, Humans, Infant, Newborn, Male, Ultrasonography

Vomiting episodes in newborns are extremely common and often attributed to gastroesophageal reflux. The symptoms of vomiting, however, may be caused by other complications. In this report, we present two cases of a 1-month-old male and a 2-month-old female, both presenting vomiting episodes that led to malnutrition. Some pediatricians often attribute the diagnosis of gastroesophageal reflux to newborns that are vomiting; however, there is a portion of the population that has other causes that lead to similar symptoms. The pediatrician should be alert to the clinical signs of weight loss, dehydration and malnutrition to investigate other causes of vomiting.
Case Report: A Novel Intronic Mutation in AIFM1 Associated With Fatal Encephalomyopathy and Mitochondrial Disease in Infant
Authors: Qi Peng, Keze Ma, Linsheng Wang, Yinghua Zhu, Yaozhong Zhang, Chunbao Rao, Dong Luo, Zaixue Jiang, Wei Lai, Huiling Lu, Chaohui Duan, Zhongjun Zhou, Xiaomei Lu
Journal: Front Pediatr (2022)
Keywords: aifm1, fatal encephalomyopathy, mitochondrial disease, novel intronic mutation, whole-exome sequencing
MeSH terms: Case Reports

Background:
The AIFM1 gene is located on chromosome Xq26.1 and encodes a flavoprotein essential for nuclear disassembly in apoptotic cells. Mutations in this gene can cause variable clinical phenotypes, but genotype-phenotype correlations of AIFM1-related disorder have not yet been fully determined because of the clinical scarcity.
Case presentation:
We describe a 4-month-old infant with mitochondrial encephalopathy, carrying a novel intronic variant in AIFM1 (NM_004208.4: c.1164 + 5G > A). TA cloning of the complementary DNA (cDNA) and Sanger sequencing revealed the simultaneous presence of an aberrant transcript with exon 11 skipping (89 bp) and a normal transcript through analysis of mRNA extracted from the patient's fibroblasts, which is consistent with direct RNA sequencing results.
Conclusion:
We verified the pathogenic effect of the AIFM1 c.1164 + 5G > A splicing variant, which disturbed normal mRNA splicing. Our findings expand the mutation spectrum of AIFM1 and point out the necessity of intronic sequence analysis and the importance for integrative functional studies in the interpretation of sequence variants.
Intrapericardial diaphragmatic hernia in a 6-month-old girl: A case report and review of the literature
Authors: Matchecane Cossa, Tyler D Robinson
Journal: Int J Surg Case Rep (2019)
Keywords: case report, congenital diaphragmatic hernia, pediatric surgery, pericardium, thoracic surgery

Introduction:
Intrapericardial congenital diaphragmatic hernia (IPCDH) is extremely rare: only 18 cases in children have been reported in the literature since 1981. We report the 19th case of infantile IPCDH in a 6-month-old girl and compare with previous reports.
Presentation of case:
Our patient initially presented with four days of dyspnea and was diagnosed with CDH by preoperative radiography. She was taken to the operating room, where an IPCDH was discovered, and successfully reduced.
Discussion:
CDH may present with cardiopulmonary compromise, but IPCDH directly compress the heart, leading to acute or subacute heart failure.
Conclusion:
Pediatric surgeons should be aware of and prepared for the possibility of IPCDH when making surgical plans to correct CDH.
Dermal fibroblasts in Hutchinson-Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress
Authors: Mauro Paradisi, Dayle McClintock, Revekka L Boguslavsky, Christina Pedicelli, Howard J Worman, Karima Djabali
Journal: BMC Cell Biol (2005)
MeSH terms: Fibroblasts / pathology, Heat Stress Disorders / genetics, Lamin Type A / genetics, Point Mutation, Progeria / genetics, Case Reports, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Cell Nucleus / chemistry, Cell Nucleus / pathology, Cell Nucleus / ultrastructure, Cells, Cultured, Child, Preschool, Chromatin, Female, Fibroblasts / ultrastructure, Humans, Lamin Type A / analysis, Lamins / analysis, Membrane Proteins / analysis, Nuclear Envelope / pathology, Nuclear Proteins, Progeria / pathology, Sequence Deletion, Skin / pathology, Thymopoietins / analysis, Chromatin, Lamin Type A, Lamins, Membrane Proteins, Nuclear Proteins, Thymopoietins, emerin

Background:
Hutchinson-Gilford progeria syndrome (HGPS, OMIM 176670) is a rare sporadic disorder with an incidence of approximately 1 per 8 million live births. The phenotypic appearance consists of short stature, sculptured nose, alopecia, prominent scalp veins, small face, loss of subcutaneous fat, faint mid-facial cyanosis, and dystrophic nails. HGPS is caused by mutations in LMNA, the gene that encodes nuclear lamins A and C. The most common mutation in subjects with HGPS is a de novo single-base pair substitution, G608G (GGC>GGT), within exon 11 of LMNA. This creates an abnormal splice donor site, leading to expression of a truncated protein.
Results:
We studied a new case of a 5 year-old girl with HGPS and found a heterozygous point mutation, G608G, in LMNA. Complementary DNA sequencing of RNA showed that this mutation resulted in the deletion of 50 amino acids in the carboxyl-terminal tail domain of prelamin A. We characterized a primary dermal fibroblast cell line derived from the subject's skin. These cells expressed the mutant protein and exhibited a normal growth rate at early passage in primary culture but showed alterations in nuclear morphology. Expression levels and overall distributions of nuclear lamins and emerin, an integral protein of the inner nuclear membrane, were not dramatically altered. Ultrastructural analysis of the nuclear envelope using electron microscopy showed that chromatin is in close association to the nuclear lamina, even in areas with abnormal nuclear envelope morphology. The fibroblasts were hypersensitive to heat shock, and demonstrated a delayed response to heat stress.
Conclusion:
Dermal fibroblasts from a subject with HGPS expressing a mutant truncated lamin A have dysmorphic nuclei, hypersensitivity to heat shock, and delayed response to heat stress. This suggests that the mutant protein, even when expressed at low levels, causes defective cell stability, which may be responsible for phenotypic abnormalities in the disease.
Benign hereditary chorea, not only chorea: a family case presentation
Authors: Jeanette Koht, Sven Olav Løstegaard, Iselin Wedding, Marie Vidailhet, Malek Louha, Chantal Me Tallaksen
Journal: Cerebellum Ataxias (2016)
Keywords: ataxia, bhc, benign hereditary chorea, dystonia, myoclonus, nkx2-1 gene
MeSH terms: Case Reports

Background:
Benign hereditary chorea is a rare disorder which is characterized by early onset, non-progressive choreic movement disturbance, with other hyperkinetic movements and unsteadiness also commonly seen. Hypothyroidism and lung disease are frequent additional features. The disorder is caused by mutations of the NKX2-1 gene on chromosome 14.
Case presentation:
A Norwegian four-generation family with eight affected was identified. All family members had an early onset movement disorder, starting before one year of age with motor delay and chorea. Learning difficulties were commonly reported from early school years. The family presented with choreic movements at rest, but other movements were seen; myoclonus, dystonia, ataxia, stuttering and tics-like movements. All patients reported unsteadiness and ataxic gait was observed in two patients. Videos are provided in the supplementary material. Most affected family members had asthma and a subclinical or clinical hypothyroidism. Sequencing revealed a mutation in the NKX2-1 gene in all eight affected family members.
Conclusions:
This is the first Norwegian family with benign hereditary chorea due to a mutation in the NKX2-1 gene, c.671 T > G (p.Leu224Arg). This family demonstrates well the wide phenotype, including dystonia, myoclonus and ataxia.
A Crohn's Disease Patient Found to Have Entamoeba histolytica Infection Causing Pyogenic Liver Abscess
Authors: Hannah Saven, Ashton Harmacinski, Andrew Canakis, Uni Wong
Journal: Case Rep Gastrointest Med (2023)
MeSH terms: Case Reports

Entamoeba histolytica is a parasite that typically causes amoebic dysentery but can result in complications such as pyogenic liver abscess. Patients with inflammatory bowel disease often take immunosuppressive therapies that make them more susceptible to such infections. Notably, parasitic infections in this context are rare in nonendemic areas. We describe a 57-year-old man who recently started infliximab therapy for Crohn's disease and presented with fever and right upper quadrant pain. While hospitalized, this patient was diagnosed with Entamoeba histolytica liver abscess. This case demonstrates that parasitic infections should be considered early in immunocompromised patients with inflammatory bowel disease.
Anesthetic management for abdominal aortic surgery in a patient with a left ventricular assist device: a case report
Authors: Koko Adachi, Toshihiro Wagatsuma, Takuya Shiga, Hiroaki Toyama, Masanori Yamauchi
Journal: JA Clin Rep (2015)
Keywords: afterload, anticoagulation, aortic cross-clamping, left ventricular assist devices, preload

Left ventricular assist devices (LVAD) are a currently established destination and bridge therapy until cardiac transplantation; hence, this patient population continues to increase. Here, we present the first report of abdominal aortic cross-clamping (ACC) in a LVAD patient undergoing emergency aneurysm repair. Anticoagulation was continued pre-and intra-operatively to avoid pump thrombosis. The pumping function of the LVAD is highly dependent on both preload and afterload. In this case, abdominal ACC, which increases the afterload, did not significantly influence circulatory dynamics. However, when the abdominal ACC was released, mean atrial pressure (MAP) fell to 42 mmHg, because preload reduction due to massive bleeding (3532 g) secondary to anticoagulation and afterload reduction by abdominal ACC release combined to cause critical hypotension. Maintenance of MAP required rapid infusion and use of an alpha-adrenergic agent. Surgical and anesthesia times were 411 and 525 min, respectively. Total blood loss was 5389 g, respectively. The patient was discharged after 25 postoperative days with no major complications. ACC release, with its accompanying decrease in preload and afterload, and massive bleeding due to anticoagulation in these patients require careful management.
Superficial palmar arch aneurysm after carpal tunnel decompression, a rare complication: a case report
Authors: S Gull, R A J Spence, W Loan
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

False aneurysms of the palmar arteries are rare. They are usually associated with traumatic injuries to the hand vasculature. We present a case of superficial palmar arch aneurysm (SPAA), complicating carpal tunnel decompression which presented as a pulsatile mass at the site of previous surgery. Initial diagnosis was made on clinical examination and confirmed on doppler ultrasound (US) and computed tomographic angiography (CTA). The feeding vessel of the aneurysm was subsequently occluded using coil embolization.
Intentional Foreign Body Ingestion: A Complex Case of Pica
Authors: D Guinan, T Drvar, D Brubaker, M Ang-Rabanes, J Kupec, P Marshalek
Journal: Case Rep Gastrointest Med (2019)
MeSH terms: Case Reports

Intentional ingestion of foreign objects, a form of self-injurious behavior, is rarely discussed in the medical literature but often requires extensive evaluation, management, and resources. It can be especially problematic for gastroenterologists, who are often consulted for removal of the foreign body. Pica is the psychiatric diagnosis for intentional ingestion of nonnutritive objects and is most commonly seen in prison inmates and those diagnosed with intellectual disability or psychiatric illness. This case report presents a challenging case of pica, highlighting the complexity involved in diagnosis and the need for early psychiatric intervention. It also aims to provide a general review of the literature and practical recommendations to assist with managing this form of self-injurious behavior in the inpatient setting. Collaborative efforts among specialties in addition to primary prevention are vital to successful management of these patients.
Confluent and Reticulated Papillomatosis Successfully Treated with Topical Vitamin A Derivative
Authors: Manal Alsulami, Bader Alharbi, Yaser Alotaibi, Fadi Alghamdi, Adel Alsantali
Journal: Case Rep Dermatol Med (2023)
MeSH terms: Case Reports

Confluent and reticulated papillomatosis (CARP) is a rare dermatosis that typically develops in adolescents and young adults. Clinical characteristics include hyperkeratotic papules that coalesce centrally with a reticulated pattern peripherally on the central and upper trunk, neck, and axilla. Its etiology is not precisely known, and disordered keratinization has been postulated as one of the etiologies. Treatment options of the disease include systemic (such as antibiotics, antifungals, and retinoids) and topical treatments (such as lactic acid, antifungals, retinoids, salicylic acid, urea, tacrolimus, and vitamin D analogs). We report a case of a 17-year-old boy, otherwise healthy, presented with a new onset of asymptomatic, persistent, and slowly progressing brownish skin lesions over the trunk for 6 months. The diagnosis was revised to CARP based on clinical and histopathological examination. Treatment with topical tretinoin 0.025% cream once daily was begun. There was complete resolution of his lesions at the end of 8 weeks of therapy. There has been no relapse at 2 months follow-up. The effectiveness of tretinoin in this patient supports the theory that CARP is a keratinization disorder. Initiating treatment with topical tretinoin when no limitations for its use would be reasonable as it can provide a safer alternative to systemic therapy.
Severe Vitamin B12 Deficiency in Pregnancy Mimicking HELLP Syndrome
Authors: Shravya Govindappagari, Michelle Nguyen, Megha Gupta, Ramy M Hanna, Richard M Burwick
Journal: Case Rep Obstet Gynecol (2019)
MeSH terms: Case Reports

Severe vitamin B12 deficiency may present with hematologic abnormalities that mimic thrombotic microangiopathy disorders such as hemolysis, elevated liver enzymes, and low platelet count (HELLP) syndrome. We report a patient diagnosed with severe vitamin B12 deficiency, following termination of pregnancy for suspected preeclampsia and HELLP syndrome at 21 weeks' gestation. When hemolysis and thrombocytopenia persisted after delivery, testing was performed to rule out other etiologies of thrombotic microangiopathy, including atypical hemolytic uremic syndrome, thrombotic thrombocytopenic purpura, and vitamin B12 deficiency. This work-up revealed undetectable vitamin B12 levels and presence of intrinsic factor antibodies, consistent with pernicious anemia. Parenteral B12 supplementation was initiated, with subsequent improvement in hematologic parameters. Our case emphasizes the importance of screening for B12 deficiency in pregnancy, especially in at-risk women with unexplained anemia or thrombocytopenia. Moreover, providers should consider B12 deficiency and pernicious anemia in the differential diagnosis of pregnancy-associated thrombotic microangiopathy.
Impact of Cryotherapy on Sensory, Motor, and Autonomic Neuropathy in Breast Cancer Patients Receiving Paclitaxel: A Randomized, Controlled Trial
Authors: Ding Quan Ng, Chia Jie Tan, Boon Chua Soh, Mabel May Leng Tan, Soon Yue Loh, Yam Eng Tan, Hui Hui Ong, Peggy Pei Chee Teng, Jack Junjie Chan, Wen Yee Chay, Joycelyn Lee, Gillianne Lai, Sok Yuen Beh, Tira Jing Ying Tan, Yoon Sim Yap, Guek Eng Lee, Mabel Wong, Rebecca Dent, Yew Long Lo, Alexandre Chan, Kiley Wei-Jen Loh
Journal: Front Neurol (2020)
Keywords: breast cancer, chemotherapy-induced peripheral neuropathy, cryotherapy, electrophysiological assessment, paclitaxel, patient-reported outcome
MeSH terms: Case Reports

Introduction: We conducted a randomized controlled trial evaluating the efficacy and tolerability of cryotherapy in preventing chemotherapy-induced peripheral neuropathy (CIPN) in patients with early breast cancer receiving neo/adjuvant weekly paclitaxel. Methods: Patients were recruited from the National Cancer Centre Singapore and randomized (1:1) to receive either cryotherapy or usual care. Cryotherapy was applied as frozen gloves and socks on all extremities from 15 min before paclitaxel until 15 min post-infusion every cycle. Efficacy was measured by patient-reported outcomes (Patient Neurotoxicity Questionnaire [PNQ] and EORTC QLQ-CIPN20) and electrophysiological assessments. The primary endpoint was PNQ severity at 2 weeks after 12 cycles of weekly paclitaxel. Results: A total of 46 patients were recruited, of which 8 dropped out before paclitaxel treatment, leaving 38 evaluable. There was no significant difference in PNQ severity between cryotherapy and usual care at 2 weeks after paclitaxel treatment (sensory: p = 0.721; motor: p = 1.000). A benefit was observed at 3 months post-paclitaxel based on PNQ (sensory: 14.3 vs. 41.2%, p = 0.078; motor: 0 vs. 29.4%, p = 0.012) and CIPN20 (sensory: β = -3.6, 95%CI = -10.5-3.4, p = 0.308; motor: β = -7.3, 95%CI = -14.6-0, p = 0.051). Additionally, cryotherapy subjects have lower CIPN20 autonomic score (β = -5.84, 95%CI = -11.15 to -0.524, p = 0.031) and higher sympathetic skin response hand amplitudes (β = 0.544, 95%CI = 0.108-0.98, p = 0.014), suggesting possible autonomic benefits from cryotherapy. Temporary interruption with cryotherapy occurred in 80.9% of the subjects due to cold intolerance. Conclusions: There is insufficient evidence that cryotherapy prevents sensory neuropathy which may be due to the high rates of cryotherapy interruption in this study. The autonomic benefits of cryotherapy should be further investigated with appropriate outcome measures. Clinical Trial Registration: ClinicalTrials.gov: NCT03429972.
Role of psychomotricity in the management of body image disorders in schizophrenia: a case report
Authors: Christian Eyoum, Nathalie Kingue Mbenda, Rodrigue Tchokona Kontchou, Simon Noé Elessa Belle, Erero Njiengwe
Journal: Pan Afr Med J (2021)
Keywords: psychomotricity, body image, case report, fragmentation, schizophrenia
MeSH terms: Body Dysmorphic Disorders / diagnosis, Body Dysmorphic Disorders / therapy, Schizophrenia / therapy, Case Reports, Anxiety Disorders, Cameroon, Hallucinations, Humans

Schizophrenia is one of the most debilitating psychiatric disorders affecting around 1% of people worldwide. Its causes and management are quite poorly controlled. Patients with schizophrenia often experience an alteration in their body image. Its corollaries such as depersonalization are felt like real torture. In the biopsychosocial model of the management of mental health disorders, very few tools are effective in the management of depersonalization syndrome which is often overlooked by psychiatrists who mainly focus on erasing hallucinations and other positive symptoms. Psychomotricity, a poorly known branch of the biopsychosocial model, is still trying to find a place between psychological and body therapies. For a period of 6 months, we conducted a prospective case-study on two patients living with schizophrenia and treated in the Psychiatry Department of Laquintinie Hospital in Douala in Cameroon. In those patients, the association of psychomotor therapies provided a satisfactory response to a problem of depersonalization, also known as fragmentation anxiety.