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Idiopathic infratentorial superficial siderosis of the central nervous system: case report and review of literature.
Stabile, A, Di Lazzaro, V, Colosimo, C, Piazza, F, Ferrarese, C, DiFrancesco, JC
Neurologia i neurochirurgia polska. 2018;(1):102-106
Abstract
The superficial siderosis (SS) of the central nervous system (CNS) is a rare condition characterized by a wide range of neurological manifestations directly linked to an acquired iron-mediated neurodegeneration. First described more than 100 years ago, only recently SS has been divided into two distinct entities, according to the distribution of iron deposition in the CNS: cortical superficial siderosis (cSS) and infratentorial superficial siderosis (iSS). Here we describe an adult case of iSS, with detailed clinical and radiological features. Moreover, we extensively review the literature of SS, particularly focusing on the pathogenesis, clinical-radiological classification, diagnostic algorithm and treatment options of this rare condition.
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Genetic evidence of Zika virus in mother's breast milk and body fluids of a newborn with severe congenital defects.
Giovanetti, M, Goes de Jesus, J, Lima de Maia, M, Junior, JX, Castro Amarante, MF, Viana, P, Khouri Barreto, F, de Cerqueira, EM, Pedreira Santos, N, Barreto Falcão, M, et al
Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases. 2018;(10):1111-1112
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Adrenal cavernous hemangioma: a case report.
Feo, CV, De Troia, A, Pedriali, M, Sala, S, Zatelli, MC, Carcoforo, P, Feo, CF
BMC surgery. 2018;(1):103
Abstract
BACKGROUND Adrenal cavernous hemangiomas are very rare benign tumors that usually present as incidental findings on abdominal imaging. Preoperative differential diagnosis from other benign or malignant adrenal neoplasms may be challenging. CASE PRESENTATION A 70-year old man was referred for an 8-cm abdominal mass incidentally discovered on a contrast-enhanced computed tomography (CT) performed to investigate a pulmonary nodule. Biochemical tests ruled out any endocrine dysfunction and iodine 123 metaiodobenzylguanidine whole body scintiscan single-photon emission CT excluded a pheocromocitoma. Findings on magnetic resonance imaging were non-specific and the patient was elected for a left adrenalectomy. Histopathological diagnosis revealed a cavernous hemangioma. A portion of the resected tissue was tested for drug sensitivity to mitotane, doxorubicin, and sunitinib. CONCLUSIONS Adrenal hemangioma is a rare disease but should be included in the differential diagnosis of adrenal tumors. The surgical resection is generally required to exclude malignant disease, resolve pressure-related symptoms, and prevent retroperitoneal hemorrhage. Although specific features in diagnostic imaging are often lacking, if the diagnosis is established preoperatively a laparoscopic adrenalectomy can be performed due to the benign nature of the lesion. Doxorubicin and sunitinib were both capable of reducing primary culture cell viability, this suggest that similar drugs may be useful in the medical treatment of adrenal hemangiomas.
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Nervous System Malformations.
Gaitanis, J, Tarui, T
Continuum (Minneapolis, Minn.). 2018;(1, Child Neurology):72-95
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Abstract
PURPOSE OF REVIEW This article provides an overview of the most common nervous system malformations and serves as a reference for the latest advances in diagnosis and treatment. RECENT FINDINGS Major advances have occurred in recognizing the genetic basis of nervous system malformations. Environmental causes of nervous system malformations, such as perinatal infections including Zika virus, are also reviewed. Treatment for nervous system malformations begins prior to birth with prevention. Folic acid supplementation reduces the risk of neural tube defects and is an important part of health maintenance for pregnant women. Fetal surgery is now available for prenatal repair of myelomeningocele and has been demonstrated to improve outcomes. SUMMARY Each type of nervous system malformation is relatively uncommon, but, collectively, they constitute a large population of neurologic patients. The diagnosis of nervous system malformations begins with radiographic characterization. Genetic studies, including chromosomal microarray, targeted gene sequencing, and next-generation sequencing, are increasingly important aspects of the assessment. A genetic diagnosis may identify an associated medical condition and is necessary for family planning. Treatment consists primarily of supportive therapies for developmental delays and epilepsy, but prenatal surgery for myelomeningocele offers a glimpse of future possibilities. Prognosis depends on multiple clinical factors, including the examination findings, imaging characteristics, and genetic results. Treatment is best conducted in a multidisciplinary setting with neurology, neurosurgery, developmental pediatrics, and genetics working together as a comprehensive team.
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Ghost cell odontogenic carcinoma with suspected cholesterol granuloma of the maxillary sinus in a patient treated with combined modality therapy: A case report and the review of literature.
Qin, Y, Lu, Y, Zheng, L, Liu, H
Medicine. 2018;(7):e9816
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RATIONALE Ghost cell odontogenic carcinoma (GCOC) is a rare malignant odontogenic tumor with aggressive growth characteristics. PATIENT CONCERNS A 41-year-old Chinese male visited our hospital in 2013, with a 4-month history of bloody purulent rhinorrhea with a peculiar smell in the right nasal cavity. DIAGNOSES The patient suffered from recurrent GCOC with suspected cholesterol granuloma of the maxillary sinus. The patient was incorrectly diagnosed with a calcifying epithelial odontogenic tumor at his first recurrence. Physical examination, radiological examination, and histopathology were used to identify GCOC. INTERVENTIONS Considering the recurrence of GCOC and poor effects of single surgery, postoperative adjuvant chemotherapy and concurrent chemoradiotherapy were performed after radical surgical excision. OUTCOMES So far, no significant evidence has suggested recurrence or metastasis after a long-term follow-up. LESSONS We advocate wide surgery with clean margins at the first accurate diagnosis. Combined modality therapy could be taken for the recurrent GCOC. We expect to provide a new treatment strategy to prevent the growth of this neoplasm.
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Rhabdomyolysis in a patient complicated with hypopituitarism and multiple organ dysfunction syndrome and the literature review.
Zhou, C, Lai, S, Xie, Y, Zhang, S, Lu, Y
The American journal of emergency medicine. 2018;(9):1723.e1-1723.e6
Abstract
INTRODUCTION Muscular symptoms, including stiffness, myalgia, cramps, and fatigue, are present in the majority of the patients with hypopituitarism, adrenal insufficiency and hypothyroidism, but rhabdomyolysis, the rapid breakdown of skeletal muscle, is a rare manifestation. In most patients who develop rhabdomyolysis, precipitating factors, such as strenuous exercise or use of lipid-lowering drugs, can be identified. CASE REPORT We report the case of a 23-year-old male with primary hypopituitarism who developed acute renal impairment (AKI) with rhabdomyolysis after strenuous physical activity (push-ups). His blood test confirmed marked hypopituitarism. Severe elevation of serum CK consistent with rhabdomyolysis was noted and an elevated creatinine indicated AKI and multiple organ dysfunction syndrome (MODS). Patient's condition improved significantly after continuous renal replacement therapy (CRRT), glucocorticoid hormone replacement therapy and aggressive hydration. MODS with rhabdomyolysis in patients with hypothyroidism is quite rare and we expect that this case report adds to the existing literature on this subject. We also emphasize that thyroid and adrenal gland status should be evaluated in patients with unexplained AKI, MODS and presenting with the symptoms of muscle involvement. LITERATURE REVIEW We respectively reviewed 23 patients with hypopituitarism, adrenal Insufficiency and hypothyroidism induced rhabdomyolysis who were involved in the past 40 years relevant literatures. CONCLUSION We report a successfully treated case of rhabdomyolysis, which is a rare but potentially serious complication of hypopituitarism. Screening for endocrine abnormality in patients with elevated muscle enzymes should be considered, since an early diagnosis and prompt treatment is essential to prevent rhabdomyolysis and its consequences.
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Sudden unexpected death in epilepsy in a 14-year-old girl: case report and literature review.
Zhang, X, Sun, L, Cui, L, Lin, W
The Journal of international medical research. 2018;(5):2031-2036
Abstract
Background Sudden unexpected death in epilepsy (SUDEP) is the most common cause of death in people with epilepsy. The pathogenesis of SUDEP is still unclear. The majority of SUDEP cases occur in intractable epilepsy, especially in the aftermath of a generalized tonic-clonic seizure. We report an atypical SUDEP case with infrequent seizures in frontal lobe epilepsy. Case Report A 14-year-old girl presented with a 13-year history of paroxysmal convulsions. She experienced three episodes within 6-10 months after birth. At 14 years old, she experienced an aggravated seizure, manifesting as unconsciousness, hyperventilation, and urinary incontinence. Electroencephalography showed spike-slow waves and slow waves with mixed asynchronized spike waves originating from the frontal lobe during the sleep stage. Transient outbreaks of spike-slow complex waves (1-2 s) were also noted in all leads. The diagnosis of frontal lobe epilepsy (generalized tonic-clonic seizures secondary to focal impaired awareness seizures and myoclonus) was made. Oral sodium valproate was prescribed. However, she suddenly died on her way to school 2 months later. Conclusion The causes of SUDEP are complicated, and frontal lobe epilepsy may be a potential risk factor. Early diagnosis and appropriate treatment of epileptic seizures, as well as close observation, should be emphasized.
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Prone Positioning of the Burn Patient With Acute Respiratory Distress Syndrome: A Review of the Evidence and Practical Considerations.
Oto, B, Orosco, RI, Panter, E, Velamuri, R, Kar, AR, Caffrey, J
Journal of burn care & research : official publication of the American Burn Association. 2018;(3):471-475
Abstract
Acute respiratory distress syndrome (ARDS) is a common sequela of severe burns and inhalation injury. The massive inflammatory reaction that follows deep burn injury, compounded by episodes of sepsis and organ dysfunction, predisposes patients to the development of ARDS. Prone positioning as a means of improving gas exchange has shown benefit in refractory cases of ARDS, but it is not well described in the burn population. We present a case report of a patient with severe ARDS who underwent prone positioning, review the relevant literature, and provide a discussion of practical concerns.
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Leukostasis retinopathy: An uncommon visual threatening complication of chronic myeloid leukemia with severe hyperleukocytosis - A case report and review of the literature.
Chen, B, Yan, X, Zhang, X, Yang, H
Indian journal of ophthalmology. 2018;(12):1871-1874
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To describe a rare case of an unusual visual threatening complication of chronic myeloid leukemia (CML). A 21-year-old male visited the hospital complaining of 1-week painless binocular acute visual loss without any other symptoms. The patient was diagnosed with CML. He then received emergent leukapheresis with imatinib treatment, which achieved obvious hematological remission. However, the visual acuity did not recover along with the CML remission and ocular structure relief. CML-related leukostasis could induce severe leukostasis retinopathy. Hematologists and ophthalmologists should pay more attention to this relatively rare and severe complication of CML.
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Amiodarone-Induced Thyroid Dysfunction: A Clinical Update.
Elnaggar, MN, Jbeili, K, Nik-Hussin, N, Kozhippally, M, Pappachan, JM
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association. 2018;(6):333-341
Abstract
Amiodarone is one of the most commonly prescribed antiarrhythmic agents in clinical practice owing to its efficacy, even with high toxicity profile. The high iodine content and the prolonged biological half-life of the drug can result in thyroid dysfunction in a high proportion of patients treated with amiodarone even after cessation of amiodarone. Both hypothyroidism and hyperthyroidism are common side effects that mandate regular monitoring of patients with thyroid function tests. Amiodarone-induced hypothyroidism (AIH) is diagnosed and managed in the same way as a usual case of hypothyroidism. However, differential diagnosis and clinical management of amiodarone-induced thyrotoxicosis (AIT) subtypes can be challenging. With the aid of a case snippet, we update the current evidence for the diagnostic work up and management of patients with amiodarone-induced thyroid dysfunction in this article.