Kinglangley4521

Co-parasitising larvae of Ascarophis sp. and Hysterothylacium sp. were also collected from P. fuscus. All these findings represent new host and geographical records. A key to valid species of Echinocephalus Molin, 1858 is provided.A synopsis of the species of Myxobolus Bütschli, 1882 (Cnidaria, Myxosporea, Myxobolidae) described from 2014 up till now is presented. It includes 122 nominal species described all over the world. For each of the species, the most relevant morphological and morphometric data, as well as data are provided related to the location in the host, type host and type locality. The GenBank accession numbers are provided whenever possible, and the spores were redrawn based on the original descriptions. The bibliography includes all the papers containing the species descriptions.Adult trematodes of Allocreadium Looss, 1900 (Digenea) infect the intestine of mostly freshwater fishes in Asia, Europe, Africa and the Americas. During routine parasitological surveys in the Vaal River system, adult trematodes were collected from the intestine of smallmouth yellowfish, Labeobarbus aeneus (Burchell). selleck chemicals llc The trematodes were confirmed to represent a member of Allocreadium and did not match any existing taxon. Therefore, they are described as a new species, Allocreadium apokryfi sp. n. The morphology of the new species most closely resembles that of Allocreadium aswanense El-Naffar, Saoud et Hassan, 1984, but it differs from it by having a bipartite internal seminal vesicle, wider eggs, a shorter intertesticular distance, an intestinal bifurcation at the ventral sucker level, a ventral sucker that is larger than the oral sucker, and a genital pore near the intestinal bifurcation or the ventral sucker. The surface topology of the new species is notably different from that of other allocreadiids. Papillae were observed in the ventral sucker and surrounding both ventral and oral suckers, but the number and arrangement of the latter were not consistent among specimens. The protruding cirrus of A. apokryfi sp. n. was described using SEM and is the first such observation for the genus. Genetic characterisation showed that the new species was clearly distinct from other Allocreadium spp. using both 18S (nucleotide difference 1.3-9.1%) and 28S (4.7-6.5%) rDNA, forming a well-supported clade in Allocreadium. The presence of A. apokryfi sp. n. in a well-studied river is unexpected, and considering the diet of its host and the scarcity of Allocreadium in Africa, the possible biology of this species is discussed herein.

Complete androgen-insensitivity syndrome (CAIS), a disorder of sex development (46,XY DSD), is caused primarily by mutations in the androgen receptor (AR). Gonadectomy is recommended due to the increased risk of gonadoblastoma, however, surgical intervention is often followed by loss of libido. We present a 26-year-old patient with CAIS who underwent gonadectomy followed by a significant decrease in libido, which was improved with testosterone treatment but not with estradiol. Genetic testing was performed and followed by molecular characterization. We found that this patient carried a previously unidentified start loss mutation in the androgen receptor. This variant resulted in an N-terminal truncated protein with an intact DNA binding domain and was confirmed to be loss-of-function in vitro. This unique CAIS case and detailed functional studies raise intriguing questions regarding the relative roles of testosterone and estrogen in libido, and in particular, the potential non-genomic actions of androgens.

N-terminal truncation of androgen receptor can cause androgen-insensitivity syndrome. Surgical removal of testosterone-producing gonads can result in loss of libido. Libido may be improved with testosterone treatment but not with estradiol in some forms of CAIS. A previously unreported AR mutation - p.Glu2_Met190del (c.2T>C) - is found in a CAIS patient and results in blunted AR transcriptional activity under testosterone treatment.

C) - is found in a CAIS patient and results in blunted AR transcriptional activity under testosterone treatment.

Primary hepatic neuroendocrine tumor (PHNET) is a rare type of neuroendocrine tumor (NET) that is also a primary hepatic tumor. Patients are present with almost no specific clinical symptoms and typically present with negative test results and atypical imaging characteristics; therefore, the differentiation of PHNET from other types of primary hepatic masses can be very difficult. In this article, we describe a case of PHNET that mimicked a liver helminth infection in a 57-year-old man. The diagnosis of PHNET in this patient was challenging, and the final diagnosis was based on imaging, histopathology features, and long-term follow-up.

An uncommon type of neuroendocrine tumor (NET) is a primary hepatic neuroendocrine tumor (PHNET). Primary hepatic neuroendocrine tumors are rare NET lesions found in the liver, characterized by non-specific clinical and imaging results, which can be easily confused with other liver lesions, including HCC and parasitic lesions. To have a conclusive diagnosis and classification, a mixture of many medical assessment techniques, such as imaging, gastrointestinal endoscopy, nuclear medicine, anatomy, including histopathology, and immunohistochemistry, is essential.

An uncommon type of neuroendocrine tumor (NET) is a primary hepatic neuroendocrine tumor (PHNET). Primary hepatic neuroendocrine tumors are rare NET lesions found in the liver, characterized by non-specific clinical and imaging results, which can be easily confused with other liver lesions, including HCC and parasitic lesions. To have a conclusive diagnosis and classification, a mixture of many medical assessment techniques, such as imaging, gastrointestinal endoscopy, nuclear medicine, anatomy, including histopathology, and immunohistochemistry, is essential.

Marfan syndrome is an autosomal dominant multisystem disorder that has an estimated incidence of 1 in 5000. It is caused by mutations in the FBN1 gene, which encodes the extracellular matrix protein type 1 fibrillin. Familial hypocalciuric hypercalcaemia (FHH), also inherited in an autosomal dominant pattern, is a rare benign disorder characterised by hypercalcaemia, hypocalciuria and relative hyperparathyroidism with normal or high plasma PTH levels, with an estimated incidence of between 1 in 10 000 to 1 in 100 000. We report a unique case of a 26-year-old man referred for investigation of hypercalcaemia, who also had clinical features of Marfan syndrome but no previous genetic investigations. Calculated fractional urinary excretion of calcium was low (0.0005) following correction of vitamin D deficiency, raising the possibility of FHH. Genetic testing for Marfan syndrome and FHH, via a hyperparathyroidism multiplex gene panel test, revealed a novel truncating variant in the FBN1 gene (c.8481T>G; p.(Tyr2827Ter)), consistent with Marfan syndrome; and a pathogenic truncating variant in the CaSR gene (c.