QALYs within costeffectiveness analysis a summary with regard to cardiologists
Nodular fasciitis (NF) is a benign disease originating from fascial tissue and most commonly occurs in the extremities, followed by the trunk, head, and neck. NF of the head and neck occurs mainly in the face and neck,and it has not been reported in the occipital region.
A 30-year-old man was admitted because of a mass in the left occipital region. Imaging examination revealed a soft tissue nodule in the left occipitalarea.An enhanced magnetic resonance imagingscan showed characteristic inverted target and fascial tail signs. Histopathological analysisshowed a large amount of spindle cell proliferation, and immunohistochemistry showed positive expression of SMA in the spindle cells in the lesion. Finally, nodular fasciitis was diagnosed.
NF ofthe head and neck is rare, but the possibility of NF should be considered when nodules or masses with rapid subcutaneous growth are found and tenderness in the head and neck is present. Imaging examination, in combination with clinical manifestations and histopathological examination, can improve the diagnostic accuracy for the disease. After diagnosis, local surgical resection is the first choice of treatment.
NF of the head and neck is rare, but the possibility of NF should be considered when nodules or masses with rapid subcutaneous growth are found and tenderness in the head and neck is present. Imaging examination, in combination with clinical manifestations and histopathological examination, can improve the diagnostic accuracy for the disease. After diagnosis, local surgical resection is the first choice of treatment.
Posterior atlantoaxial dislocation (PAD) is a rare type of upper cervical spine disease. We sought to describe a unreported case of old PAD with os odontoideum (OO) and atlas hypoplasia (AH) and our unique treatment approach consisting of C1 single door laminoplasty with C1-3 posterior fixation and fusion.
A 70-year-old male patient who suffered from progressive aggravating numbness and limb weakness for 4 years without trauma, was diagnosed with old PAD with OO and AH. The patient underwent closed reduction and C1 single door laminoplasty with C1-3 posterior fixation and fusion instead of C1 laminectomy with occipitocervical fusion. During the 3-year follow-up, he was able to walk by himself instead of using a wheelchair and with a ± 25° range of head rotation as well as a ± 10° range of flexion-extension. Three-year follow-up images showed satisfactory reduction and fusion.
C1 single door laminoplasty with cervical fusion in PAD combined with spinal cord compression could be a suitable and effective surgical option. Compared with laminectomy and occipitocervical fusion, it retains more cervical range of motion, has a smaller incision and provides an adequate bone grafting space for atlantoaxial fusion.
C1 single door laminoplasty with cervical fusion in PAD combined with spinal cord compression could be a suitable and effective surgical option. Compared with laminectomy and occipitocervical fusion, it retains more cervical range of motion, has a smaller incision and provides an adequate bone grafting space for atlantoaxial fusion.
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyper-inflammatory syndrome caused by many genetic defects. STAT1 is a DNA-binding factor that regulates gene transcription. HLH caused by STAT1 gain-of-function (GOF) mutations has rarely been reported and its clinical manifestations and mechanisms are not clearly defined.
A 2-year-old boy presented to our hospital with recurrent fever for > 20 d. The patient had a personal history of persistent oral candidiasis and inoculation site infection during the past 2 years. Hepatosplenomegaly was noted. Complete blood cell count showed severe anemia, thrombocytopenia and neutropenia. Other laboratory tests showed liver dysfunction, hypertriglyceridemia and decreased fibrinogen. Hemophagocytosis was found in the bone marrow. Chest computed tomography showed a cavitary lesion. Tests for fungal infection were positive. Serum T helper (Th) 1/Th2 cytokine determination demonstrated moderately elevated levels of interleukin (IL)-6 and IL-10 with normal interferon (IFN)-γ concentration.
was identified in bronchoalveolar lavage fluid by polymerase chain reaction. Genetic testing identified a heterozygous mutation of c.1154C>T causing a T385M amino acid substitution in STAT1. Despite antibacterial and antifungal therapy, the febrile disease was not controlled. The signs of HLH were relieved after HLH-94 protocol administration, except fever. Fever was not resolved until he received anti-tuberculosis therapy. Hematopoietic stem cell transplantation was refused and the patient died six months later due to severe pneumonia.
Patients with STAT1 GOF mutation have broad clinical manifestations and may develop HLH. This form of HLH presents with normal IFN-γ level without cytokine storm.
Patients with STAT1 GOF mutation have broad clinical manifestations and may develop HLH. This form of HLH presents with normal IFN-γ level without cytokine storm.
Neuronal intranuclear inclusion disease (NIID) is an unusual autosomal dominant, chronic progressive neurodegenerative disease. The clinical manifestations of NIID are complex and varied, complicating its clinical diagnosis. To the best of our knowledge, this report is the first to document sporadic adult-onset NIID mimicking acute cerebellitis (AC) that was finally diagnosed by imaging studies, skin biopsy, and genetic testing.
A 63-year-old man presented with fever, gait unsteadiness, dysarthria, and an episode of convulsion. His serum levels of white blood cells and C-reactive protein were significantly elevated. T2-weighted brain magnetic resonance imaging and fluid attenuation inversion recovery sequences showed bilateral high-intensity signals in the medial part of the cerebellar hemisphere beside the vermis. While we initially considered a diagnosis of AC, the patient's symptoms improved significantly without special treatment, prompting our consideration of NIID. Navitoclax Diffusion-weighted imaging showed hyperintensity in the corticomedullary junction. Skin biopsy revealed eosinophilic inclusions positive for anti-p62 in epithelial sweat-gland cells. GGC repeat expansions in the Notch 2 N-terminal like C gene confirmed the diagnosis of NIID.
For patients with clinical manifestations mimicking AC, the possibility of underlying NIID should be considered along with prompt rigorous examinations.
For patients with clinical manifestations mimicking AC, the possibility of underlying NIID should be considered along with prompt rigorous examinations.