OpenMed/multicare-articles huggingface dataset:
A de novo triplication on 2q22.3 including the entire ZEB2 gene associated with global developmental delay, multiple congenital anomalies and behavioral abnormalities
Authors: Haiming Yuan, Lina Zhang, Mengfan Chen, Junping Zhu, Zhe Meng, Liyang Liang
Journal: Mol Cytogenet (2015)
Keywords: behavioral abnormalities, congenital anomalies, developmental delay, distinctive facial features, intellectual disability, mowat-wilson syndrome, zeb2-triplication
MeSH terms: Case Reports

Background:
Mowat-Wilson syndrome (MWS) is a genetic condition characterized by distinctive facial features, moderate to severe intellectual disability, developmental delay and multiple congenital anomalies. MWS is caused by heterozygous mutations or deletions of the ZEB2 gene located on chromosome 2q22.3. At present, over 190 cases with mutations and deletions involving the ZEB2 gene have been reported, but triplication or duplication of reciprocal region of Mowat-Wilson syndrome has never been reported.
Case presentation:
Here we report a 2-year-2-month-old boy carrying a de novo 2.9 Mb complex copy number gain at 2q22.3 involving triplication of ZEB2 gene. The boy is characterized by intrauterine growth retardation, hypotonia, cognitive impairment, multiple congenital anomalies and behavioral abnormalities.
Conclusion:
This case provides evidence that triplication of ZEB2 gene may be clinical significance and ZEB2 gene is likely to be a dosage sensitive gene.
Shifting to Trauma-Informed Care in Inpatient Psychiatry: A Case Study of an Individual with Dissociative PTSD Undergoing EMDR Therapy
Authors: Olga Winkler, Lisa Burback, Andrew J Greenshaw, Jonathan Jin
Journal: Case Rep Psychiatry (2023)
MeSH terms: Case Reports

Caring for patients with personality disorders can be challenging due to risks associated with suicidal ideation, homicidal threats, splitting, and acting out with problematic behavior in psychiatric inpatient units. Limited resources on inpatient units further add to the stress and burden on staff. This case summarizes how trauma-informed care was implemented in an inpatient setting to produce marked improvement in a patient's treatment outcomes as well as better staff engagement and satisfaction. This culture change in the approach to care was not an easy process, as effortful planning and resources were required for key elements such as ongoing coaching, education, and regular staff debriefings. This case report signals the need for service providers to enable health systems to examine rules and exceptions from a cultural perspective of considering equity, diversity, and inclusion (EDI)-to allow openness to rational exceptions, even if they are unconventional.
Adenoid Cystic Carcinoma of the Bartholin's Gland: A Diagnostic Dilemma
Authors: Charmaine C W Lo, Jerome B Y Leow, K Naing, Ken Jaaback, Thanuja Thachil
Journal: Case Rep Obstet Gynecol (2019)
MeSH terms: Case Reports

Adenoid cystic carcinomas of the Bartholin's gland are extremely rare and are often misdiagnosed. There are currently no definite treatment guidelines. This article describes the case of a 33-year-old female who was managed at our centre for adenoid cystic carcinoma of the Bartholin's gland. She presented with a prolonged history of a vulvar lesion which was eventually diagnosed as adenoid cystic carcinoma of the Bartholin's gland. She was subsequently treated with wide local excision of the primary and inguinal lymph node dissection followed by adjuvant radiotherapy and chemotherapy. She had gross perineural invasion on MRI imaging. The present case highlights the diagnostic dilemma in this extremely rare cancer and the literature further explores the natural history and treatment options.
Cervical Necrotizing Fasciitis Caused by Dental Extraction
Authors: José Alcides Arruda, Eugênia Figueiredo, Pâmella Álvares, Luciano Silva, Leorik Silva, Antônio Caubi, Marcia Silveira, Ana Paula Sobral
Journal: Case Rep Dent (2016)

Cervical necrotizing fasciitis is an unusual infection characterized by necrosis of the subcutaneous tissue and fascial layers. Risk factors for the development of necrotizing fasciitis include diabetes mellitus, chronic renal disease, peripheral vascular disease, malnutrition, advanced age, obesity, alcohol abuse, intravenous drug use, surgery, and ischemic ulcers. This report presents a case of necrotizing fasciitis in the cervical area caused by dental extraction in a 73-year-old woman. Cervical necrotizing fasciitis in geriatric patient is rare, and even when establishing the diagnosis and having it timely treated, the patient can suffer irreversible damage or even death. Clinical manifestations in the head and neck usually have an acute onset characterized by severe pain, swelling, redness, erythema, presence of necrotic tissue, and in severe cases obstruction of the upper airways. Therefore, the presentation of this clinical case can serve as guidance to dentists as a precaution to maintain an aseptic chain and be aware of the clinical condition of older patients and the systemic conditions that may increase the risk of infections.
Streptococcus pyogenes Endocarditis Associated With Varicella-Case Report and Review of the Literature
Authors: Patrizia Savoia, Ulrich Heininger, Michael Buettcher
Journal: Front Pediatr (2019)
Keywords: streptococcus pyogenes, infective endocarditis, mitral valve, necrotizing fasciitis, vaccination, varicella
MeSH terms: Case Reports

Infection with varicella zoster virus (VZV) is usually a benign and self-limiting disease. Serious complications by bacterial pathogens do occur, such as necrotising fasciitis (NF). One of the most important is Streptococcus pyogenes (or Group A Streptococcus, GAS), which colonizes epithelial surfaces, primarily of the throat and skin. In rare instances, varicella may also be associated with S. pyogenes endocarditis. Review of the literature reveals only 18 children with infective endocarditis (IE) caused by GAS since 1942. VZV as antecedent illness was found in five (28%). Fourteen (78%) had no pre-existing cardiac abnormalities. Death occurred in three (17%) children. Infective endocarditis with acute deterioration secondary to rupture of mitral valve chordae tendineae necessitating cardiac surgery has not been reported in the literature yet. We present this rare and instructive pediatric case and the results of a literature search on S. pyogenes endocarditis in children.
Splenomegaly, cardiomegaly, and osteoporosis in a child with Gaucher disease
Authors: J J Sheth, C M Ankleshwaria, M A Mistri, N Nanavaty, S J Mehta
Journal: Case Rep Pediatr (2011)
MeSH terms: Case Reports

A 15-month-old girl, born to the consanguineous parents, was referred with the sign of massive splenomegaly associated with thrombocytopenia and anemia. Plasma Chitotriosidase estimation was carried out as a screening test and was found to be normal with reduced activity of β-glucosidase in leucocytes suggestive of Gaucher disease. At the age of 4 years, severe osteoporosis and cardiomegaly with pulmonary congestion were observed in the child. Molecular analysis for GBA gene has revealed homozygous status for L444P (c.1448C) in the proband, whereas parents and two elder sisters were found to be heterozygote. Prenatal study during the fourth pregnancy was carried out from cultured chorionic villi for β-glucosidase, which was in the carrier range. Further confirmation of the carrier status was carried out from amniotic fluid DNA and was found to be heterozygous for L444P (c.1448C) in the GBA gene. This case demonstrates that children with the sign of splenomegaly with anemia and thrombocytopenia need to be screened for Gaucher disease, and molecular study can further help to confirm the heterozygous status, where prenatal study by enzyme investigation demonstrate heterozygous condition.
Coexistence of GH-Producing Pituitary Macroadenoma and Meningioma in a Patient with Multiple Endocrine Neoplasia Type 1 with Hyperglycemia and Ketosis as First Clinical Sign
Authors: A Herrero-Ruiz, H S Villanueva-Alvarado, J J Corrales-Hernández, C Higueruela-Mínguez, J Feito-Pérez, J M Recio-Cordova
Journal: Case Rep Endocrinol (2017)
MeSH terms: Case Reports

We present the clinical case of a patient who was admitted with an onset of diabetes mellitus (DM) with associated ketosis and whose clinical, hormonal, and radiological evolution revealed the presence of primary hyperparathyroidism, pancreatic neuroendocrine tumor, and GH-producing pituitary macroadenoma in the context of multiple endocrine neoplasia type 1 (MEN1). DM is relatively common in cases of acromegaly, but it is not generally associated with ketosis. Simultaneously, the patient presented a meningioma, which is associated with pituitary macroadenoma only in extremely rare cases.
Severe lupus after two years of hemodialysis: It exists and can be serious
Authors: Marouane Jabrane, Mohammed Bouchoual, Mohamed Arrayhani
Journal: Egypt J Intern Med (2023)
Keywords: hemodialysis, lupus flare, spontaneous ecchymosis
MeSH terms: Case Reports

Progression of lupus nephropathy (LN) to end-stage renal disease is a serious complication and requires subsequent replacement therapy. Lupus disease activity is extinguished in chronic hemodialysis. We report the observation of a 35-year-old female patient, in conventionnel hemodialysis for two years (chronic glomerulonephritis), admitted to the emergency room for convulsions, left flaccid tenderness, cutaneous-mucosal pallor and altered general condition evolving since three days before her admission. we also observed a spontaneous ecchymotic lesions on the right arm. Echodoppler of the right upper extremity was in favor of a partially thrombosed aneurysm of the right brachial artery. The biological workup showed pancytopenia, the requested immunological workup showed a low complement C3, a positive level of anti-DNA antibodies. The patient was treated as severe lupus flare: Bolus of methylprednisolone, followed by oral administration, associated with Mycophenolate mofétil (MMF) at a dose of 1 g/d. The evolution was favorable on the clinical, biological and radiological levels. Systemic lupus erythematous (SLE) can occur even after several years of hemodialysis and sometimes in a severe form, pushing the clinician to think of this pathology in the presence of evocative signs.
Two cases of white globe appearance in non-cancerous stomach
Authors: Masaya Iwamuro, Takehiro Tanaka, Hiroyuki Sakae, Yasushi Yamasaki, Hiromitsu Kanzaki, Seiji Kawano, Yoshiro Kawahara, Hiroyuki Okada
Journal: Ecancermedicalscience (2018)
Keywords: acid secretion inhibitor, gastric cancer, intraglandular necrotic debris, white globe appearance
MeSH terms: Case Reports

In this report, we describe two patients with white globe appearance in the non-cancerous stomach. The patient in Case 1 was an 82-year-old Japanese man who had been taking vonoprazan, dimethicone, acotiamide, sitagliptin, candesartan, dutasteride, etizolam and zolpidem. The patient in Case 2 was a 74-year-old Japanese woman who had been taking esomeprazole, rebamipide, sitagliptin, candesartan, ezetimibe, mirabegron, levocetirizine, zolpidem and lactobacillus preparation. In both cases, endoscopy revealed multiple white spots in the stomach. Magnifying endoscopy and blue laser imaging revealed a slightly elevated, round, white substance. Biopsied specimens from the lesions contained parietal cell protrusions and fundic gland cysts. Intraglandular necrotic debris was absent. Consequently, microscopic features in these cases were different from those reported previously for white globe appearance observed in gastric cancer lesions. These results indicate that white globe appearance can be observed in non-cancerous stomach. Although the macroscopic features could be confusing or misleading, thorough endoscopic observation and pathological analysis of white globe appearance will aid oncologists and endoscopists in differentiating between cancer-related lesions and non-cancerous lesions.
Case Report: Primary hepatic neuroendocrine tumor: two cases report with literature review
Authors: Yongsheng Tang, Xianyu Chen, Xu Lu, Zenan Yuan, Yang Yang, Chunhui Qiu, Hua Li
Journal: Front Oncol (2023)
Keywords: pet-ct, tae, immunohistochemistry, liver metastasis, neuroendocrine tumor, primary hepatic neuroendocrine tumors (phnets)
MeSH terms: Case Reports

Background & aims:
Primary hepatic neuroendocrine tumors (PHNETs) are rare malignant liver tumors that present diagnostic challenges owing to their rarity and absence of specific clinical features. This study aimed to investigate the characteristics of this rare liver tumor to enhance our understanding of the disease, improve diagnostic accuracy, and explore standardized diagnostic and treatment approaches.
Case description:
During physical examination, two elderly women, aged 64 and 74 years, were found to have liver masses. 18F-FDG Positron Emission Tomography-Computed Tomography (18F-FDG PET-CT) and Ga68-DOTATATE PET-CT scans of both individuals revealed multiple liver masses that were initially suspected to be hepatic neuroendocrine tumors. Subsequent puncture pathology confirmed the diagnosis of neuroendocrine tumors. Furthermore, in Case 1, the tumor was also detected by 18F-FDG PET-CT in the lung, suggesting a metastatic tumor, in conjunction with liver immunohistochemistry and imaging findings. Laboratory tests revealed no significant abnormalities in liver function or autoimmune liver disease indicators, and there was no evidence of viral hepatitis infection. However, partial hepatectomy was not indicated for cases with distant metastasis or multiple space-occupying lesions. Individualized treatment approaches have been developed for such situations. A large portion of the tumor underwent Transarterial Embolization (TAE), and targeted combination chemotherapy or endocrine therapy was administered based on the pathological results. During regular follow-ups a 13 and 12 months, the tumor remained stable. The patients' quality of life was good, and their psychological well-being was healthy. They led active lifestyles, demonstrated a thorough understanding of their disease and its progression, and actively cooperated during the follow-up process.
Conclusion:
Our findings suggest that a combination of serological, radiological, and immunohistochemical examinations can aid in the diagnosis of PHNET. In addition, we determined that TAE combined with drug therapy could be an effective method for controlling PHNET progression. Regular postoperative follow-ups are important for monitoring the prognosis and tumor progression status of patients with PHNET.
Bronchoscopic balloon dilatation for tuberculosis-associated tracheal stenosis: a two case report and a literature review
Authors: Yong Fang, Xiaofang You, Wei Sha, Heping Xiao
Journal: J Cardiothorac Surg (2016)
MeSH terms: Tracheal Stenosis / microbiology, Tracheal Stenosis / therapy, Tuberculosis / complications, Case Reports, Review, Adult, Airway Obstruction / therapy, Bronchoscopy / methods, Catheterization / methods, Dilatation / methods, Dyspnea / etiology, Female, Humans, Intermittent Positive-Pressure Ventilation / methods, Respiratory Sounds / etiology, Tracheal Stenosis / complications, Young Adult

Background:
Bronchoscopic balloon dilatation (BBD) is a common strategy in the treatment of bronchostenosis. However, the longer dilating time in each inflation cycle (approximately 3-5 min) without mechanical ventilation is not possible for the treatment of tracheal stenosis.
Case presentation:
In this study, we reported our experience of BBD with shorter dilating time (10 s or 1 min) and intermittent ventilation for the repair of tuberculous-associated tracheal stenosis in two cases of our hospital. After the surgeries, the physical examinations and pulmonary function were tested. In case 1, the cough and dyspnea syndromes subsided, wheeze and strid or in lungs were remarkably reduced, tracheal lumen was considerably expanded and pulmonary function was improved following the treatment. For the case 2, her chest tightness, shortness of breath symptoms were alleviated after the treatment. The middle and lower trachea stenosis was dilated and patent, but the right main bronchus stenosis was slightly improved. No restenosis occurred in the two patients in 1 year outpatient follow-up.
Conclusions:
These findings suggest that our modification in BBD is safe and effective for treating this patient with tracheal stenosis caused by tuberculosis, but the longer-term effect of the surgery in a large number of patients with longer follow-up remains to be seen.
Bortezomib-Induced Pulmonary Toxicity: A Case Report and Review of Literature
Authors: Prakash Kharel, Deekchha Uprety, Abhinav B Chandra, Yirui Hu, Anuradha Avinash Belur, Ajay Dhakal
Journal: Case Rep Med (2018)
MeSH terms: Case Reports

Bortezomib, a proteasome inhibitor, is an established therapy against multiple myeloma. Bortezomib-induced lung injury, although not appreciated during the introductory time of the medication, has now been highlighted in multiple case reports. The objective of this study is to report a case of bortezomib-induced lung injury, review current literature, and perform exploratory analysis.
Lethal End of Spectrum of Clots-Thrombotic Storm
Authors: Muhammad Asim Rana, Ahmed F Mady, Abdullah Ali Lashari, Rehab Eltreafi, Nicola Fischer-Orr, Kamal Naser
Journal: Case Rep Crit Care (2018)
MeSH terms: Case Reports

Thrombotic storm (TS) is a rare, acute, hypercoagulable state characterized by multiple thromboembolic events affecting at least two different areas of the vascular system/organs over a short period of time. Typical triggers include inflammation, infections, minor trauma, surgery, pregnancy, and the puerperium. A single thrombotic event can set off a number of thromboembolic events, often including unusual locations like hepatic, portal, or renal veins, skin (purpura fulminans), adrenal glands, and cerebral sinus venous thrombosis. Usually, younger female patients are affected; in some patients, there is an association with an autoimmune disorder like lupus erythematosus, and they show evidence of antiphospholipid antibodies or other phenotypic expressions of anticoagulation disorders. The majority of patients have no previous history of thromboembolism. As the diagnosis of thrombotic storm relies solely on clinical symptoms with a lack of specific diagnostic tests, this can result in a delay of diagnosis. The treatment consists of uninterrupted lifelong anticoagulation. Sometimes immunomodulatory therapies have been used. The distinction between extensive thrombotic events like Heparin Induced Thrombosis (HIT), Thrombotic Thrombocytopenic Purpura (TTP), Antiphospholipids Syndrome (APS), and TS can sometimes be difficult, and the etiology of TS remains uncertain.
Case Report: Spontaneous Postpartum Quadruple Cervicocephalic Arterial Dissection With a Heterozygous COL5A1 Variant of Unknown Significance
Authors: Takeaki Imamura, Takaki Omura, Nobuo Sasaki, Satoshi Arino, Haruna Nohara, Akira Saito, Maki Ichinose, Kazumasa Yamaguchi, Naoki Kojima, Hiroshi Inagawa, Katsutoshi Takahashi, Toshiyuki Unno, Hiroko Morisaki, Osamu Ishikawa, Gakushi Yoshikawa, Yasusei Okada
Journal: Front Neurol (2022)
Keywords: col5a1 gene mutation, cervicocephalic arterial dissection, postpartum, pregnancy, quadruple
MeSH terms: Case Reports

Pregnancy-associated cervicocephalic arterial dissection is rare, and its pathophysiology remains poorly understood. Despite the hypothesized contribution to pathogenesis, connective tissue diseases and genetic factors are rarely identified in clinical cases. We describe a case of postpartum arterial dissection involving all four cervicocephalic arteries resulting in acute cerebral infarction. The patient underwent successful endovascular thrombectomy and angioplasty and recovered fully without sequelae. Genetic screening for connective tissue diseases identified a heterozygous missense COL5A1 variant with unknown clinical significance. Two genetically related family members later developed arterial abnormalities, and one of them tested positive for the same COL5A1 gene variant as our patient, while the other was scheduled for genetic testing. The extensive clinical presentation of our patient and the prevalence of arterial abnormalities in her family warrant further assessment of the association between the identified COL5A1 gene variant and the pathogenesis of arterial dissections.
Angular ectopic pregnancy presenting as rupture of lateral wall of the uterus
Authors: P S Baldawa, H K Chaudhari
Journal: J Hum Reprod Sci (2008)
Keywords: angular, ectopic, pregnancy
MeSH terms: Case Reports

This is a case report of a 32-year-old woman, being treated for secondary infertility, with history of previous ectopic pregnancy, who presented to the emergency obstetrical room in a state of hypovolemic shock. A diagnosis of ruptured ectopic pregnancy was confirmed in view of history of 14 weeks amenorrhea with a positive urine pregnancy test and positive colpopunture. She was immediately shifted for an emergency exploratory laparotomy. Intraoperatively, the authors were surprised to encounter a right lateral wall rupture uterus and ~14 weeks foetus with the placenta lying freely in the peritoneal cavity. That was suggestive of a right interstitial ectopic which had grown up to 14 weeks, invaded the uterine cavity thus forming an angular ectopic, which ended up as the catastrophic event. The authors here wish to highlight that angular pregnancy is rare but it has catastrophic consequences including maternal mortality. Had the patient presented early, in view of history of previous ectopic, an ultrasonography and color Doppler would have been useful in early detection. And a fertility conserving management in the form of Methotrexate therapy or Selective Uterine artery embolization could have been done.
More than Just Pneumonia: Acute Pulmonary Embolism in Two Middle-Aged Patients with COVID-19
Authors: Jahinover Mazo, Sukhdev Singh, Zohaib Khan, Allison Foster, Ecaterina Komarnitsky, Abhiram Nagaraj, Soham Patel, Vinaya Kikkeri
Journal: Case Rep Med (2020)
MeSH terms: Case Reports

Background:
Although severe pneumonia and respiratory compromise have remained the predominant complications of coronavirus disease 19, we are now learning this virus is much more varied in its presentation. In particular, there are increasingly reported cases of thromboembolic events occurring in infected patients. Case Report. In this report, we present two patients, both under the age of 40 with known risk factors for venous thromboembolism, who presented with respiratory distress. Both patients were diagnosed with SARS-CoV-2 pneumonia and pulmonary embolism requiring management with anticoagulation. Both patients were discharged after a short course in the hospital.
Conclusion:
The discussion of a hypercoagulable state induced by coronavirus disease 19 has been well documented; however, the exact mechanisms remain unknown. We suspect that a prothrombotic inflammatory response provoked by coronavirus disease could be the culprit, acting as an additive effect on middle-aged patients with known risk factors for venous thromboembolism. We recommend clinicians closely monitor those with known risk factors for pulmonary embolism.
Primary Angiosarcoma of the Breast after Bilateral Breast Reduction
Authors: Justus Philip, Elizabeth Bender, Kristy Waite
Journal: Case Rep Surg (2018)
MeSH terms: Case Reports

Angiosarcoma of the breast is a rare malignancy of endothelial cell origin, representing less than 1% of all breast malignancy. Primary angiosarcomas can occur in the setting of chronic lymphedema, but it also may occur spontaneously without any preceding treatment. Surgery is the primary therapeutic intervention for breast angiosarcomas with radiation and chemotherapy as adjuvant treatment. Angiosarcomas are aggressive and tend to have a high risk of local and metastatic recurrence. We present a case of primary angiosarcoma that developed in a patient who had bilateral breast reduction surgery in the past.