Some chromosomal aberrations emerging in the course of treatment are probably not related to disease progression, but attribute to the germline alteration. Therefore, the dynamic genetic tests should be performed during the whole treatment process, which is significantly essential for efficacy evaluation and treatment decision- making.
Hereditary spastic paraplegia is a group of clinically and genetically heterogeneous neurodegenerative disorders, often characterized by weakness and spasticity in the lower limbs. In our study, we describe a spastic paraplegia type 7 patient with an expanded phenotype who was diagnosed after the discovery of pathogenic variants in SPG7.
Umbilical vein thrombosis is a rare anomaly with high mortality that frequently occurs in association with fetomaternal conditions. The unfavorable outcome of our case highlights the need for consensus on severity criteria, including the percentage of vascular occlusion determined by power Doppler, in order to improve outcome.
Methotrexate-induced leukoencephalopathy is to be considered as a potential etiology in any patient presenting with stroke-like symptoms after receiving methotrexate. One of our cases suggests that the method of administration of the methotrexate can be IV or intrathecal and still results in leukoencephalopathy.
Opalski syndrome is a rare vascular brainstem syndrome which is accepted as a variant of Wallenberg syndrome. Opalski syndrome should be considered in acute conditions in which typical symptoms of lateral medullary infarct are accompanied by ipsilateral hemiparesis. Other brain stem syndromes are distinguished from Opalski syndrome by the presence of contralateral hemiparesis.
Treatment of atrophic edentulous jaws with implant-supported fixed prostheses is one of the most complicated challenges in dentistry. This clinical report describes the prosthesis which consists of screw retained frameworks with individual cement retained crowns which combines the advantages of the screw retained restoration with the advantage of cement retained.
This report presents a verapamil-sensitive atrial tachycardia, mid-atrium septum activating the earliest. Concealed entrainment was obtained at noncoronary aortic sinus (NCS), where the local activation was delayed compared to mid-septum. The tachycardia was successfully ablated at NCS. The entrance of the slow conduction zone was located at NCS.
Tetraploid–diploid mosaicism in humans is exceedingly rare. We present an 11-year-old boy with tetraploid–diploid mosaicism and coexistent hair hypopigmentation with skin hypo- and hyperpigmentation. This case expands the current literature as we are not aware of previous documentation of this unique combination of pigmentary anomalies.
The presence of history of redness and swelling of toe in an infant without history of trauma is typical of hair threat tourniquet syndrome. The treatment simply involves incision and removal of hair fibers. Physicians should be aware of this syndrome because early diagnosis and treatment avoid serious complications.
ST-segment elevation is well known for its diagnostic value for transmural myocardial infarction due to acute thrombotic occlusion of a coronary artery, and often requires emergency reperfusion therapy. However, ST segment is by no means pathognomonic for acute coronary events. Here, we report a case of ST-segment elevation after hepatectomy secondary to an unusual etiology.
The presence of Internal Jugular Valves can pose a diagnostic and procedural challenge during ultrasound-guided cannulation. After ruling out dissection, thrombus, or ultrasound artifacts, it can still be accessed and successfully cannulated with appropriate precautions including use of Live ultrasound, positioning, use of soft-tipped catheters, and minimizing duration of catheter placement.
Intravenous lipid emulsion treatment is safer, faster, and easier to apply and could be a powerful alternative to extracorporeal treatment methods in Carbamazepine intoxication.
Central nervous system (CNS) tuberculosis should be considered in patients from endemic nations with worsening neurological symptoms. If imaging reveals possible CNS tuberculomas, potentially life-threatening lesions should be excised and analyzed. When disease is less severe, other tissues possibly infected should be biopsied first for diagnosis to avoid neurosurgery.
We report a case of Behçet's disease which was aggravated by psychological stress and oral infection. The control of oral infection under medical and dental collaboration is important for providing Behçet's disease patients with the optimal medical care and for facilitating the relief of the primary disease.
Spontaneous dissection without an aneurysm limited to left gastric artery is fairly rare. Physicians should be alert to the possibility of this condition in patients with sudden-onset abdominal pain.
T-cell prolymphocytic leukemia can result in severe immune T-cell deficiency. Clinicians should be aware of this complication in this rare lymphoid malignancy, and opportunistic infections should be ruled out before the use of usual immunosuppressive procedures such as alemtuzumab and hematopoietic stem cell transplantation.
In rare cases, patients with Gitelman syndrome may present with hypokalemic paralysis mimicking Guillain–Barré syndrome. The severity of resultant symptoms may be life-threatening. Controversial drugs such as aldactone, amiloride, and eplerenone should be used in this situation despite the lack of safety data.
Systemic treatment of Medullary thyroid carcinoma (MTC) is currently limited to the use of a tyrosine kinase inhibitor. Cytotoxic chemotherapy is not routinely recommended in the earlier lines of treatment due to the lack of efficacy. We describe a patient with locally advanced MTC who had an uncommon response to cisplatin and etoposide.
A comparison of this case to previously published reports suggests that granulocyte colony-stimulating factor may be associated with improved prognosis in severe antithyroid drug-induced neutropenia, and that weight-based doses could be an appropriate strategy.
Surgical resection of mandible causes deviation of mandible toward affected side, resulting in loss of occlusal contact. This article presents twin rows of nonanatomic teeth on the untreated side of maxillary complete denture. The palatal row helps in mastication, whereas the buccal row supports the cheeks and improves the aesthetics.
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