Tuberous sclerosis complex (TSC) is an autosomal dominant disease involving multiple organs, but there are a limited number of reports on family TSC. In the present report, a case of a 52-year-old female with a familial genetic TSC, associated with bilateral giant renal angiomyolipoma, was described. The mother, second elder brother and daughter of the patient all exhibited TSC, but the clinical manifestations, and therapeutic prognosis between the family members were not the same. The present case report aimed at identifying an effective diagnostic method and treatment through additional study of familial genetic TSC, in order to prolong and improve the quality of life for patients with TSC. According to the present case and relevant literature reviews, it is suggested that fetal gene detection during pregnancy could prevent the passing of this disease onto further generations. Furthermore, early application of drug treatment may control the development of the disease in diagnosed patients. The combination of classical treatments with a small dose of mammalian target of rapamycin inhibitors is the typical recommendation, which may control the development of the disease more effectively and decrease adverse side-effects.
In the past decade, the use of immune checkpoint therapy (ICT) has increased across many malignancies, including metastatic renal cell carcinoma as an option for frontline and subsequent lines of therapy. Despite the many therapeutic benefits of ICT, its use is complicated by the potential risk of immune‐related adverse events (irAEs). One rare but potentially life‐threatening irAE is hemophagocytic lymphohistiocytosis (HLH). HLH is a systemic inflammatory disorder resulting in multiorgan failure. The diagnosis of HLH is a challenge due to nonspecific symptoms and overlap with other systemic conditions, which can lead to delays in receiving appropriate treatment and potentially poor patient outcomes. This case illustrates the management of HLH caused by nivolumab plus ipilimumab combination therapy through the use of corticosteroids and tocilizumab in a patient with metastatic clear cell renal cell carcinoma.
To improve the use of sensate anterolateral thigh (ALT) flaps for foot and ankle reconstruction, we employed a thinned nerve-selective harvesting technique. The data of 31 patients in whom sensate ALT perforator flaps were transferred for reconstruction of soft-tissue defects in the foot and ankle were reviewed. Flaps were elevated with 2 refinements. The first is the initial selection of the “true” sensory branch in the medial incision on the suprafascial plane. The second is flap thinning by keeping a cuff of thin deep fat surrounding the point where the perforator or nerve branch inserts into the superficial fat layer. The recipient site assessment consisted of complications, monofilament touch perception, sharp–blunt discrimination, axial circumference, and American Orthopedic Foot and Ankle Society score. After a mean follow-up of 31.7 months, all flaps survived uneventfully, except for marginal necrosis in 1 patient, infection in 1 patient, ulceration in 2 patients, and secondary thinning in 3 patients. The sensation of each flap was restored. A total of 87% and 90% of the patients exhibited 5 or more positive response points in the Semmes–Weinstein monofilament touch and sharp–blunt discrimination testings, respectively. The mean axial circumference of the reconstructed foot was 27.4 cm (the unaffected side was 25.8 cm). All patients achieved mobility in ordinary shoes with a mean functional score of 74.6. The thinned nerve-selective sensate ALT perforator flap can be a favorable option for foot and ankle reconstruction. This method also offers the possibility of preserving the nerve branch at the donor thigh.
Primary extragonadal germ cell tumors are rare, and 60% of such cases are seminomas. While the tumors can occur in the mediastinum, thymus, retroperitoneal organs and pineal gland, seminoma originating in the prostate tissue is extremely rare. The present study reports the case of a 54-year-old male with prostate seminoma. The patient was followed up at the First Affiliated Hospital of Dalian Medical University (Dalian, Liaoning, China) from 2001 onwards. The patient received chemotherapy with cyclophosphamide following total resection of the pelvic organs, pelvic lymph node dissection, continent detenial cecum-ascending colic bladder and orchidectomy. The patient experienced considerable post-operative quality of life for >10 years and the disease did not reappear. The study indicated that extragonadal seminoma is sensitive to chemotherapy, and that radical surgery and post-operative adjuvant chemotherapy with cyclophosphamide is a reasonable and feasible treatment method.
To analyze the viral genetic characteristics of hantaviruses carried by Microtus maximowixzii in Yakeshi of Inner Mongolia Autonomous Region and its relationship with Hantaan virus (HTNV) and Seoul virus (SEOV) viruses as well as to identify the natural host of Khabarovsk virus (KHAV).HV specific RNAs were detected by RT-PCR. Complete S and M segment were amplified from the RNA-positive samples. Phylogenetic analysis were performed to estimate the genetic characterization and the relationship with other hantaviruses.Fifty two Microtus maximowixzii voles were captured in Yakeshi areas. Of those voles, hantaviral RNA was tested positive in 5 samples (9.62%). Complete S and M segments sequences were obtained from 5 and 2 lung samples, respectively. The complete S segment was consisted of 1848 to 1861 bp, and the M segment consisted of 3662 bp. These viruses were closely related to each other with 92.5% - 96.4% for the S segment sequences and 88.9% - 95.4% for the M segment sequences. They shared a higher identity with KHAV found previously in Yakeshi and KHAV of Russia. However, they were obviously different from the other hantavirus species. The 5 strains had the consistent secondary structure of nucleocapsid protein (NP) and glycoprotein (GP). When further comparing their secondary structures with those of HTNV and SEOV, our results indicated that there were no obvious differences in NP between KHAV and both HNTV, SEOV but with obvious difference in GP. Based on the S and M segment sequences, phylogenetic analyses revealed that these 5 strains clustered together with KHAV and formed a distinct lineage. Furthermore, all known KHAV strains could be divided into two small branches with a nucleotide divergence more than 5.3%.Our research data revealed that KHAV was highly endemic among Microtus maximowixzii in Yakeshi area which supported the notion that Microtus maximowixzii had been the natural host of KHAV in the area.
Hantaviruses are among the most important zoonotic pathogens of humans and the subject of heightened global attention. Despite the importance of hantaviruses for public health, there is no consensus on their evolutionary history and especially the frequency of virus-host co-divergence versus cross-species virus transmission. Documenting the extent of hantavirus biodiversity, and particularly their range of mammalian hosts, is critical to resolving this issue. Here, we describe four novel hantaviruses (Huangpi virus, Lianghe virus, Longquan virus, and Yakeshi virus) sampled from bats and shrews in China, and which are distinct from other known hantaviruses. Huangpi virus was found in Pipistrellus abramus, Lianghe virus in Anourosorex squamipes, Longquan virus in Rhinolophus affinis, Rhinolophus sinicus, and Rhinolophus monoceros, and Yakeshi virus in Sorex isodon, respectively. A phylogenetic analysis of the available diversity of hantaviruses reveals the existence of four phylogroups that infect a range of mammalian hosts, as well as the occurrence of ancient reassortment events between the phylogroups. Notably, the phylogenetic histories of the viruses are not always congruent with those of their hosts, suggesting that cross-species transmission has played a major role during hantavirus evolution and at all taxonomic levels, although we also noted some evidence for virus-host co-divergence. Our phylogenetic analysis also suggests that hantaviruses might have first appeared in Chiroptera (bats) or Soricomorpha (moles and shrews), before emerging in rodent species. Overall, these data indicate that bats are likely to be important natural reservoir hosts of hantaviruses.
Although segmented and unsegmented RNA viruses are commonplace, the evolutionary links between these two very different forms of genome organization are unclear. We report the discovery and characterization of a tick-borne virus--Jingmen tick virus (JMTV)--that reveals an unexpected connection between segmented and unsegmented RNA viruses. The JMTV genome comprises four segments, two of which are related to the nonstructural protein genes of the genus Flavivirus (family Flaviviridae), whereas the remaining segments are unique to this virus, have no known homologs, and contain a number of features indicative of structural protein genes. Remarkably, homology searching revealed that sequences related to JMTV were present in the cDNA library from Toxocara canis (dog roundworm; Nematoda), and that shared strong sequence and structural resemblances. Epidemiological studies showed that JMTV is distributed in tick populations across China, especially Rhipicephalus and Haemaphysalis spp., and experiences frequent host-switching and genomic reassortment. To our knowledge, JMTV is the first example of a segmented RNA virus with a genome derived in part from unsegmented viral ancestors.
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