OpenMed/multicare-articles huggingface dataset:
Case Report: Meningoencephalitis With Thrombotic Occlusive Vasculopathy in a Young EBV-Naïve Boy Is Associated With a Novel SH2D1A Mutation
Authors: Jolanda Steininger, Raphael Rossmanith, Christoph B Geier, Alexander Leiss-Piller, Lukas Thonhauser, Simone Weiss, Johannes A Hainfellner, Michael Freilinger, Wolfgang M Schmidt, Martha M Eibl, Hermann M Wolf
Journal: Front Immunol (2021)
Keywords: cns vasculopathy, sh2d1a, x-linked lymphoproliferative disease type 1, xlp1, meningoencephalitis, multiple cerebral aneurysms, primary immunodeficiency
MeSH terms: Epstein-Barr Virus Infections / immunology, Lymphoproliferative Disorders / immunology, Meningoencephalitis / immunology, Signaling Lymphocytic Activation Molecule Associated Protein / immunology, Thrombosis / immunology, Case Reports, Child, Epstein-Barr Virus Infections / diagnosis, Humans, Lymphoproliferative Disorders / diagnosis, Male, Meningoencephalitis / diagnosis, Mutation, Signaling Lymphocytic Activation Molecule Associated Protein / genetics, Thrombosis / diagnosis, SH2D1A protein, human, Signaling Lymphocytic Activation Molecule Associated Protein

X-linked lymphoproliferative disease (XLP1) is a combined immunodeficiency characterized by severe immune dysregulation caused by mutations in the SH2D1A/SAP gene. Loss or dysfunction of SH2D1A is associated with the inability in clearing Epstein-Barr-Virus (EBV) infections. Clinical manifestation is diverse and ranges from life-threatening hemophagocytic lymphohistiocytosis (HLH) and fulminant infectious mononucleosis (FIM) to lymphoma and antibody deficiency. Rare manifestations include aplastic anemia, chronic gastritis and vasculitis. Herein, we describe the case of a previously healthy eight-year old boy diagnosed with XLP1 presenting with acute non-EBV acute meningoencephalitis with thrombotic occlusive vasculopathy. The patient developed multiple cerebral aneurysms leading to repeated intracerebral hemorrhage and severe cerebral damage. Immunological examination was initiated after development of a susceptibility to infections with recurrent bronchitis and one episode of severe pneumonia and showed antibody deficiency with pronounced IgG1-3-4 subclass deficiency. We could identify a novel hemizygous SH2D1A point mutation affecting the start codon. Basal levels of SAP protein seemed to be detectable in CD8+ and CD4+ T- and CD56+ NK-cells of the patient what indicated an incomplete absence of SAP. In conclusion, we could demonstrate a novel SH2D1A mutation leading to deficient SAP protein expression and a rare clinical phenotype of non-EBV associated acute meningoencephalitis with thrombotic occlusive vasculopathy.
Is Optical Coherence Tomography a Useful Tool to Objectively Detect Actual Posterior Vitreous Adhesion Status?
Authors: Thomas Bertelmann, Christina Goos, Walter Sekundo, Stephan Schulze, Stefan Mennel
Journal: Case Rep Ophthalmol Med (2016)

Purpose. To objectively detect true posterior vitreous cortex (PVC) adhesion status using a commercially available swept-source OCT device (DRI OCT-1, Atlantis(©)). Material and Methods. Case report, review of the literature, and methodical discussion of concepts to improve OCT-guided PVC imaging. Results. Standard OCT imaging misdiagnosed PVC adhesion status as totally detached in this case report when using a horizontal 6 mm scan only. Contrariwise imaging the same eye with a 12 mm horizontal scan, partial posterior vitreous detachment (PVD) and the presence of a bursa premacularis were clearly discernible. Besides a broader scan, specific scan patterns, highest resolution, and contrast sensitivity, an anterior-to-posterior adjusted scan through the entire vitreous as well as the detection of characteristic undulating aftermovements might enhance the capability of OCT imaging to detect true PVC adhesion status. Conclusions. Further developments are needed to address these issues and to establish OCT recordings as the standard and objective method of choice in PVC adhesion status imaging.
Case Report: Mammary and rectal metastases from an ovarian cancer: report of two cases and review of literature
Authors: Mounia Amzerin, Camilo Garcia, Claudia Stanciu, Isabelle Veys, Ahmad Awada, Hassan Errihani, Andrea Gombos
Journal: F1000Res (2014)

In this paper we report two interesting cases of metastatic ovarian cancer. The first case is a patient who developed rectal and breast metastases mimicking an inflammatory breast cancer. In the second case, subclinical breast and axillary lymph node metastases were revealed by PET/CT. Metastases in the breast originating from solid tumors are extremely rare. The ovarian primitive is the fourth most common origin. The occurrence of breast metastasis is associated with an advanced disease and a poor prognosis. Their incidence is increasing since they are found more often due to better imaging techniques and to better treatment that, accordingly, improve patients' survival. Thus, unusual sites of metastases are more and more reported. Indeed, some authors reported the occurrence of colorectal metastases from ovarian cancer. However, they remain much less frequent.
The First Vietnamese Patient of LEOPARD Syndrome due to a PTPN11 Mutation: A Case Report and Review of the Literature
Authors: Hao Trong Nguyen, Nguyen Nhat Pham, Hoang Anh Vu, Tu Nguyen Anh Tran
Journal: Case Rep Genet (2021)
MeSH terms: Case Reports

LEOPARD syndrome is a rare congenital anomaly that involves several organs. Patients with this syndrome develop multiple lentigines resembling a leopard's hide. LEOPARD is an acronym of the major features constituting the syndrome including lentigines, electrocardiographic conduction defects, ocular hypertelorism, pulmonary valve stenosis, anomalies of genitalia, retardation of growth, and deafness. The syndrome is rare, and only 200 cases have been reported yet worldwide. We present the case of an 8-year-old female patient who visited the Ho Chi Minh City Hospital of Dermato-Venereology because of multiple brownish-black "dots" on her face and body. On examination, she also showed abnormalities in the maxillofacial bones, vertebrae, shoulders, sternum, and teeth, as well as deaf-mutism and growth retardation, which are typical of LEOPARD syndrome. Genetic analysis revealed a PTPN11 gene mutation in this case. To the best of our knowledge, this is the first case of LEOPARD syndrome reported in Vietnam.
The use of noninvasive ventilation outside the intensive care unit: a clinical case report
Authors: A Romano, A Salvati, R Romano, M Mastroberardino
Journal: Transl Med UniSa (2013)
Keywords: legionella pneumophila, noninvasive ventilation, pneumonia
MeSH terms: Case Reports

Noninvasive Ventilation (NIV) is one of the best weapon at our disposal to treat respiratory failure. The early use of NIV out of the Intensive Care Unit can improve patients' outcome. A 58-year-old man affected by severe bilateral pneumonia caused by Legionella Pneumophila was treated with Noninvasive Ventilation in extra Intensive Care Unit until the evidence of a marked improvement of clinical and radiological state.
To Increase Mental Health Literacy and Human Rights Among New-Coming, Low-Educated Mothers With Experience of War: A Culturally, Tailor-Made Group Health Promotion Intervention With Participatory Methodology Addressing Indirectly the Children
Authors: Solvig Ekblad
Journal: Front Psychiatry (2020)
Keywords: intervention and evaluation, literacy, low-education households, refugee, trauma, women—health and hygiene

Due to the increasing numbers of newcomers with impacts of war, civil war and persecution, at high risk of trauma-related mental health problems, there is a need for increase the poor mental health literacy (MHL) and human rights among the new-comers, especially low-educated mothers with children. This article aimed to present a case study report of several years' experience of tailor-made group health promotion intervention. It describes as an example, a project during autumn 2018 in five municipalities of Sweden and in collaboration between academia, primary care, social welfare, police, and an NGO. Fifty-one women, Arabic- or Somalian speaking, with 1-7 children, mean age 40 years, low-educated and in average four years' of living in Sweden participated. Under supervision, a local female member of the NGO coordinated the group meetings in Swedish with up to ten participants and the moderators were representatives of healthcare, social services and police/lawyer, with an interpreter present. Each intervention focused on human rights, health including mental health, psychosocial and parenting support, by using a 5-week group intervention a 2 h/week, totally 10 h excluding pre- and post-evaluation, and one language per intervention. Each meeting included 1-h lecture and after a short break with refreshments, the participants asked questions to the respective moderator. It was a mixed method but emphasis on qualitative design and participatory methodology with co-creation and evaluation of the intervention. The results showed that this tailor-made group intervention gave the participants empowerment and a sense of coherence, MHL and tools to deal with stress/anxiety, based on their needs that were mapped before in a pilot study during Spring 2018, indirectly addressing their children. However, they did not primarily talk about mental illness experience. It is vital that these interventions toward the target group with limited exposure to Western concepts (e.g., illness, anxiety, and trauma), may bridge the gap between Western and traditional cultural understanding of pre- and postmigration stress. In conclusion, MHL may be a function of both the cultural origin of the target group's background and their resettlement in a Western reception country. Implications are discussed.
Severe Hyperthyroidism Presenting with Acute ST Segment Elevation Myocardial Infarction
Authors: Dayan Zhou, Zongjie Qu, Hao Wang, Zhe Wang, Qiang Xu
Journal: Case Rep Cardiol (2015)

Introduction. Acute myocardial infarction is life-threatening. A cardiac troponin rise accompanied by typical symptoms, ST elevation or depression is diagnostic of acute myocardial infarction. Here, we report an unusual case of a female who was admitted with chest pain. However, she did not present with a typical profile of an acute myocardial infarction patient. Case Presentation. A 66-year-old Han nationality female presented with chest pain. The electrocardiogram (ECG) revealed arched ST segment elevations and troponin was elevated. However, the coronary angiography showed a normal coronary arterial system. Thyroid function tests showed that this patient had severe hyperthyroidism. Conclusion. Our case highlights the possibility that hyperthyroidism may cause a large area of myocardium injury and ECG ST segment elevation. We suggest routine thyroid function testing in patients with chest pain.
Oculoleptomeningeal Amyloidosis associated with transthyretin Leu12Pro in an African patient
Authors: P McColgan, S Viegas, S Gandhi, K Bull, R Tudor, F Sheikh, J Pinney, M Fontana, D Rowczenio, J D Gillmore, J A Gilbertson, C J Whelan, S Shah, Z Jaunmuktane, J L Holton, J M Schott, D J Werring, P N Hawkins, M M Reilly
Journal: J Neurol (2015)
MeSH terms: Amyloid Neuropathies, Familial / genetics, Amyloid Neuropathies, Familial / pathology, Amyloid Neuropathies, Familial / physiopathology, Meninges / pathology, Case Reports, Adult, Humans, Leucine / genetics, Male, Mutation / genetics, Nigeria, Proline / genetics, Proline, Leucine, Amyloidosis, Hereditary, Transthyretin-Related

Oculoleptomeningeal amyloidosis is a rare manifestation of hereditary transthyretin (TTR) amyloidosis. Here, we present the first case of leptomeningeal amyloidosis associated with the TTR variant Leu12Pro mutation in an African patient. A 43-year-old right-handed Nigerian man was referred to our centre with rapidly progressive neurological decline. He presented initially with weight loss, confusion, fatigue, and urinary and erectile dysfunction. He then suffered recurrent episodes of slurred speech with right-sided weakness. He went on to develop hearing difficulties and painless paraesthesia. Neurological examination revealed horizontal gaze-evoked nystagmus, brisk jaw jerk, increased tone, brisk reflexes throughout and bilateral heel-shin ataxia. Magnetic resonance imaging showed extensive leptomeningeal enhancement. Cerebrospinal fluid analysis showed a raised protein of 6.4 g/dl. Nerve conduction studies showed an axonal neuropathy. Echocardiography was characteristic of cardiac amyloid. TTR gene sequencing showed that he was heterozygous for the leucine 12 proline mutation. Meningeal and brain biopsy confirmed widespread amyloid angiopathy. TTR amyloidosis is a rare cause of leptomeningeal enhancement, but should be considered if there is evidence of peripheral or autonomic neuropathy with cardiac or ocular involvement. The relationship between different TTR mutations and clinical phenotype, disease course, and response to treatment remains unclear.
Giant aneurysm of the right intra thoracic sub-clavian artery presenting as a dysphonia
Authors: Alae Mechchat, Massine M El Hammoumi, Abbas El Mesnaoui, Brahim Lekehal, Youness Bensaid
Journal: Pan Afr Med J (2011)
Keywords: aneurysm, morocco, sub-clavian artery, surgery
MeSH terms: Aneurysm / complications, Dysphonia / etiology, Subclavian Artery / pathology, Vocal Cord Paralysis / etiology, Case Reports, Aged, Aneurysm / diagnosis, Aneurysm / diagnostic imaging, Aneurysm / surgery, Dysphonia / rehabilitation, Female, Humans, Laryngoscopy, Radiography, Subclavian Artery / diagnostic imaging, Subclavian Artery / surgery, Thrombectomy, Thrombosis / etiology, Thrombosis / surgery, Vocal Cord Paralysis / surgery

Aneurysms of the intra-thoracic subclavian artery (SCA) are rare. They are often revealed by complications. Surgical treatment is always indicated. Endovascular treatment is a less invasive alternative. We report a case of a 60 years-old woman admitted for right chest pain and dysphonia. Laryngoscopy noted a right vocal cord palsy. Chest computed tomography and angiography showed a giant aneurysm of the intra-thoracic right SCA. A resection-ligation of the aneurysm was performed by a supra-clavicular approach. Postoperative course was uneventful. The histology defined an atherosclerotic aneurysm. The patient underwent voice reeducation with partial improvement after six months.
Fibrodysplasia Ossificans Progressiva and Pregnancy: A Case Series and Review of the Literature
Authors: Alexandra D Forrest, Danielle M Vuncannon, Jane E Ellis, Zvi Grunwald, Frederick S Kaplan
Journal: Case Rep Obstet Gynecol (2022)
MeSH terms: Case Reports

Objective:
To evaluate maternal and fetal outcomes in pregnant patients with fibrodysplasia ossificans progressiva (FOP; OMIM#135100), an ultrarare genetic disorder characterized by progressive heterotopic ossification of soft tissues and cumulative disability.
Methods:
This is a retrospective case series of three patients with FOP who were admitted to Grady Memorial Hospital in Atlanta, Georgia, from to February 2011 to July 2021.
Results:
Three women delivered preterm infants at our institution. These cases posed unique anesthetic and obstetric technical challenges, particularly when securing the airway and performing cesarean delivery. Importantly, each patient received perioperative glucocorticoids for prevention of further heterotopic ossification.
Conclusion:
FOP is a unique clinical diagnosis encountered by obstetricians and requires multidisciplinary management for optimal outcomes.
Scrotal Skin Metastases Revealing a Prostatic Adenocarcinoma
Authors: Idriss Ziani, Zayd El Boukili El Makhoukh, Ahmed Ibrahimi, Omar Bellouki, Jihane Benahmed, Yasmine Laraqui, Fouad Zouidia, Hachem El Sayegh, Lounis Benslimane, Yassine Nouini
Journal: Case Rep Urol (2020)
MeSH terms: Case Reports

Introduction:
Prostate cancer is the most common cancer in men. Cutaneous metastasis from prostate cancer is an unusual clinical finding. Scrotal skin metastasis revealing a prostate adenocarcinoma is even rarer. Case Report. We report the case of a 78-year-old patient, who initially consulted for nonspecific scrotal skin lesions evolving for 4 months. Patient's past history revealed urinary disorders. Physical examination and PSA levels led to perform a prostate biopsy, and the diagnosis of prostate adenocarcinoma was made. Bone scintigraphy showed that the cancer has spread to the bones. Imaging studies showed that the cutaneous lesions were limited to the scrotal wall. Cutaneous metastasis was suspected and was proven on skin biopsy. The patient received second-generation hormone therapy with good clinical and biological outcomes. Discussion. Based on literature review of nearly 2,500 skin metastases, we found that only 436 were spreading from the genitourinary tract. Skin metastasis from prostate adenocarcinoma is a rare entity with a low incidence rate (0.36%).
Conclusion:
Skin metastases, and especially in the scrotum, are exceptional in prostate cancer. However, in any patient with a prostate adenocarcinoma, nonspecific cutaneous lesions should lead to perform skin biopsy in order to identify and initiate treatment of cutaneous metastases.
A rare association of compound odontome with missing lateral incisor
Authors: Rangeeth Bollam Nammalwar, Joyson Moses
Journal: Int J Clin Pediatr Dent (2014)
Keywords: compound odontoma, impacted tooth, missing tooth, odontogenic tumors, odontoma
MeSH terms: Case Reports

Odontomas are a common type of odontogenic tumor, usually asymptomatic and mostly detected on routine radiographic examination. An 11-years-old male child with the chief complaint of mobility of deciduous dentition in the upper front region was diagnosed with an odontome with an impacted central incisor, missing lateral incisor and retained deciduous incisors following radiographic analysis. Histopathology revealed a compound odontoma following a conservative enucleation. Odontomas associated with primary dentition, impacted teeth and erupting into oral cavity have been described, but the association with a missing lateral incisor makes this an interesting case report. How to cite this article: Nammalwar RB, Moses J. A Rare Association of Compound Odontome with Missing Lateral Incisor. Int J Clin Pediatr Dent 2014;7(1):50-53.
Posterior uterine rupture secondary to use of herbs leading to peritonitis and maternal death in a primigravida following vaginal delivery of a live baby in western Uganda: a case report
Authors: Jonathan Peter Nelson
Journal: Pan Afr Med J (2016)
Keywords: maternal death, global health, herbal medicines, maternal health, uterine rupture
MeSH terms: Maternal Death, Peritonitis / chemically induced, Plant Preparations / adverse effects, Uterine Rupture / chemically induced, Case Reports, Female, Humans, Infant, Newborn, Labor, Induced / adverse effects, Medicine, African Traditional / adverse effects, Medicine, African Traditional / methods, Plant Preparations / administration & dosage, Pregnancy, Sepsis / etiology, Uganda, Young Adult, Plant Preparations

Uterine rupture is a potentially avoidable complication resulting in poor perinatal and maternal outcomes. This case had a number of unusual features including delivery of a healthy live baby; spontaneous posterior uterine rupture in a primigravida (and unscarred uterus); and delayed presentation with signs of peritonitis and sepsis rather than haemorrhage. A 19-year old primigravida had a vaginal delivery of a live infant at term, reporting having taken herbs to induce labour. She deteriorated and was transferred to our unit where she was found to have reduced consciousness, a distended abdomen and signs of sepsis. At laparotomy there was blood-stained ascites, signs of peritonitis and a posterior lower segment uterine rupture. A sub-total hysterectomy was performed but the patient's condition worsened resulting in maternal death 5 days post-operatively. This case highlights a number of differences in the presentation, management and outcomes of uterine rupture in resource-poor compared to resource-rich countries.
Successful use of stellate ganglion block and pulsed radiofrequency in the treatment of posttraumatic stress disorder: a case report
Authors: Eugene Lipov
Journal: Pain Res Treat (2010)
MeSH terms: Case Reports

Objective. To report our successful treatment of acute symptoms of posttraumatic stress disorder (PTSD). By the use of stellate ganglion block (SGB) and pulsed radiofrequency (PRF) to the stellate ganglion(SG) , sequentially. Background. A 48-year-old male a victim of armed robbery , who presented with extreme symptoms consistent with the diagnosis of PTSD. He was treated with antianxiety medications, as well as psychotherapy, but his symptoms persisted. Methods. Fifty-five days post trauma, we administered a SGB to the patient. One month later, we administered PRF to the right SG . We repeated the pulsed radiofrequency 30 weeks post trauma and performed a second SGB two weeks after that. Results. After the SGB , the patient experienced a major reduction in anxiety. Over the next week his improved allowing a significant reduction of antianxiety medications. One month later the symptoms returned and again subsided substantially following PRF , and that relief lasted four months. The patient than required another following PRF and a SGB with good responses. Conclusion. We report that selective blockade of the stellate ganglion via injection and the treatment with PRF, relieved our patient's symptoms of PTSD. And we also provide a plausible explanation of the effect.
Acute appendicitis together with chylous ascites: is it a coincidence?
Authors: Sami Akbulut, Davut Yilmaz, Sule Bakir, Erdal Cucuk, Mahmut Tas
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Acute chylous ascites is a rarely seen clinical picture, therefore, examination findings are often confused with acute appendicitis. To the best of our knowledge, there is no publication to date showing the occurrence of them together. This study presents the treatment plan for a 25-year-old male patient with both acute chylous ascites and appendicitis. Surgical findings were retrocaecal appendicitis, evident lymphangiectasia in the proximal segment of jejunum, and approximately 3 lt of chylous fluid. An appendectomy was performed and drainage was applied. Low-fat total parenteral nutrition (TPN) and octreotide treatment were administered for 7 days postoperatively. We also present a general review of some studies on chylous ascites, which have been published in the English language medical literature since 1910.
A Novel Case of Penile Gangrene in a Patient Treated with Ibrutinib for Chronic Lymphocytic Leukemia
Authors: William Paul Skelton IV, Neeka N Akhavan, Zachary A Taylor, Thu-Cuc Nguyen, Hassan Hassan, Tabitha N Townsend, Prajwol Pathak, Gaurav Trikha, Nam H Dang, Long H Dang, Azka Ali
Journal: Case Rep Oncol Med (2016)

Introduction. Ibrutinib is commonly used for the treatment of patients with CLL in either first-line or relapsed/refractory settings. Case Presentation. We present the case of a 74-year-old Caucasian man with CLL who presented with penile gangrene upon initiation of ibrutinib treatment. Our case is the first showing the complication of penile gangrene associated with ibrutinib use. The gangrene was self-limited upon discontinuing ibrutinib. Conclusion. Our finding describes a very rare yet important adverse event associated with ibrutinib use.