Articles Related to IDL

ALS is a fatal neurodegenerative condition characterized by degeneration of upper and lower motor neuron in cerebral cortex, cranial nerve nuclei and anterior horn cells of spinal cord. Three drugs are FDA approved, Riluzole, Edaravone and AMX0035 (recently approved), which can only prolong survival time by 2-3 months.

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Dengue is a prevalent arthropod-borne viral disease in tropical and subtropical areas of the globe. Dengue clinical manifestations include asymptomatic infections; undifferentiated fever; dengue fever, which is characterized by fever, headache, retro orbital pain, myalgia, and arthralgia; and a severe form of the disease denominated dengue hemorrhagic fever/dengue shock syndrome, characterized by hemoconcentration, thrombocytopenia, and bleeding tendency. However, atypical manifestations, such as liver, central nervous system, and cardiac involvement, have been increasingly reported called expanded dengue syndrome. The renal complications of dengue virus infection cover a wide spectrum of manifestations from acute kidney injury to glomerular injury with nephritic/nephrotic syndrome. Majority of cases remain symptom free and show full recovery. We report a 55 years old lady with atypical and rare presentation of dengue disease marked by rapidly progressive glomerulonephritis. Condition improved after initial 5 days pulse methylprednisolone followed by oral prednisolone therapy and mycophenolate mofetil. The main mechanism of dengue glomerulonephritis is still unknown though both direct viral infection and immune mediated damage have been suggested to be the cause. To avoid otherwise preventable morbidity and mortality, physicians should have a high index of suspicion for renal complications in patients with dengue illness and should manage this accordingly

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Diffuse midline gliomas with the histone 3-lysine-27-methionine (H3K27M) mutation should be considered in the differential diagnosis of recurrent hemiparesis and headache in patients with midline brainstem lesions, even with the absence of contrast-enhancement. Early diagnosis is essential for prognostication and engagement in trials evaluating novel therapeutics such as ONC-201.

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Diencephalic-mesencephalic junction dysplasia is a rare malformation characterized by a poorly defined junction between the diencephalon and the mesencephalon, associated with a characteristic butterfly-like contour of the midbrain on axial Magnetic resonance imaging (MRI) sections (butterfly sign). This condition may be variably associated with other brain malformations, including callosal abnormalities and supratentorial developmental hydrocephalus. We report one newborn with third-trimester fetal ultrasound (US) showing ventriculomegaly. After full-term delivery, the baby had microcephaly and generalized hypotonia, and MRI undertaken at age of 5 days, showed features of diencephalic-mesencephalic junction dysplasia (DMJD). The hypothalamic-midbrain fusion and midbrain butterfly sign could have been seen on fetal MRI, thus allowing for the prenatal diagnosis of DMJD, with implications for the surgical management of hydrocephalus and parental counseling.

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Thyroglossal duct cyst is the most common anomaly in thyroid development. Majority is benign, but 1% may be malignant. Papillary carcinoma is the most frequent thyroid cancer. The synchronous occurrence of thyroglossal duct cyst and thyroid carcinoma is rare and the association with another congenital malformation is extremely rarer. A 41-year-old woman was referred to our department with complaints of a midline cervical abnormality. Clinico-radiological evaluation suggested a thyroglossal duct cyst with non-palpable nodules of thyroid gland and a midline cleft with fibrous cord. Sistrunk’s procedure along with a total thyroidectomy associated to an excision and Z-plasty closure of this congenital cervical cleft were performed, followed by post-operative radioiodine ablation.

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Self-perception and measures of body weight and central adiposity are key indicators of a population’s attitude and level of concern regarding obesity. Parental weight has been shown to be a strong determinant of adult offspring weight. This study initially investigates the association between self-perception, and measured body mass index (BMI) and waist circumference (WC), and characterised this association by perception type (pessimist, optimist and realist).

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Cleft lip is a common craniofacial anomaly. Median cleft lip is a midline vertical cleft through the upper lip. Of all the types of clefts, minimal Median cleft of the upper lip is a very rare craniofacial anomaly.

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We would like to present two patients with triple localized, synchronous colon tumors who underwent emergency operations for obstruction. The second and third localizations were discovered during the operation.

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The DNA mismatch repair (MMR) system is necessary for the maintenance of genomic stability. The MMR system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops (IDLs) and heterologies generated during DNA replication and recombination.

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