Project description:Human multiple synostoses syndrome 3 is an autosomal dominant disorder caused by pathogenic variants in FGF9. Only two variants have been described in FGF9 in humans so far, and one in mice. Here we report a novel missense variant c.566C?>?G, p.(Pro189Arg) in FGF9. Functional studies showed this variant impairs FGF9 homodimerization, but not FGFR3c binding. We also review the findings of cases reported previously and report on additional features not described previously.
Project description:Localized amyloidosis has not been documented in the epididymis; we report this phenomenon for the first time.The first aim of this work is to report three cases of localized epididymal amyloidosis. Two cases were clinically detected as epididymal nodules, and a third after reviewing 120 epididymides obtained with neighbouring pathological processes. Amyloid deposits showed Congo red positivity, with yellow-green birefringence, and immunohistochemical expression for light chains kappa and lambda, transthyretin, amyloid P and cytokeratin AE1 AE3. No immunoreactivity for amyloid A was seen. Amyloid deposit location was intraluminal, with partial or total loss of the epididymal epithelium and subsequent passage to the interstitium, forming large masses. No amyloid deposits were observed around blood vessels. A secondary objective was to explore in normal epididymis the amyloid tested in epididymal amyloidosis. In normal epididymides, expression of amyloid P and transthyretin was detected in the apical surface of epithelial cells. Amyloid P also showed strong expression in spermatozoa.We contribute the existence of localized epididymal amyloidosis, which presents a distinctive, initial intratubular location, where there is a unique proteome and where functional amyloids act during sperm maturation.
Project description:BackgroundIn Kenya, malaria remains a major public health menace equally affecting the semi-arid to arid ecologies. However, entomologic knowledge of malaria vectors in such areas remains poor.MethodsMorphologically-identified wild-caught Anopheles funestus (s.l.) specimens trapped outdoors from the semi-arid to arid area of Kacheliba, West Pokot County, Kenya, were analysed by PCR and sequencing for species identification, malaria parasite infection and host blood-meal sources.ResultsThree hundred and thirty specimens were analysed to identify sibling species of the An. funestus group, none of which amplified using the available primers; two were infected with Plasmodium falciparum and Plasmodium ovale, separately, while 84% (n = 25) of the blood-fed specimens had fed on humans. Mitochondrial cytochrome c oxidase subunit 1 (cox1) and nuclear ribosomal internal transcribed spacer 2 (ITS2) sequences of 55 specimens (Plasmodium-positive, blood-fed and Plasmodium-negative) did not match reference sequences, possibly suggesting a previously unreported species, resolving as two clades.ConclusionsOur findings indicate the existence of yet-to-be identified and described anopheline species with a potential as malaria vectors in Kenya.
Project description:Epidermolysis bullosa (EB) encompasses a group of inheritable skin disorders characterized by various degrees of epithelial fragility that lead to cutaneous and mucosal blistering following negligible mechanical traumas. These disorders are clinically and genetically heterogeneous, ranging from mild skin involvement to severe disabling conditions with associated manifestations affecting the gastrointestinal and vesico-urinary tracts. EB may be classified into 4 main categories: simplex, junctional, dystrophic, and Kindler syndrome. Clinically, EB may present as syndromic or nonsyndromic forms. EB subtypes have mainly reported a number of mutations in the candidate COL7A1 gene encoding type VII collagen, a major stabilizing molecule of the dermoepidermal junction. Herein, we report a Somali girl with dystrophic EB who showed a previously unreported missense variant c.6797G>T in exon 86 in COL7A1.
Project description:Echinocandins are the preferred therapy for invasive infections due to Candida krusei. We present here a case of clinical failure involving C. krusei with a characteristic FKS1 hot spot mutation not previously reported in C. krusei that was isolated after 14 days of treatment. Anidulafungin MICs were elevated by ≥ 5 dilution steps above the clinical breakpoint but by only 1 step for a Candida albicans isolate harboring the corresponding mutation, suggesting a notable species-specific difference in the MIC increase conferred by this mutation.
Project description:BackgroundA key stage for all microarray analyses is the extraction of feature-intensities from an image. If this step goes wrong, then subsequent preprocessing and processing stages will stand little chance of rectifying the matter. Illumina employ random construction of their BeadArrays, making feature-intensity extraction even more important for the Illumina platform than for other technologies. In this paper we show that using raw Illumina data it is possible to identify, control, and perhaps correct for a range of spatial-related phenomena that affect feature-intensity extraction.ResultsWe note that feature intensities can be unnaturally high when in the proximity of a number of phenomena relating either to the images themselves or to the layout of the beads on an array. Additionally we note that beads neighbour beads of the same type more often than one might expect, which may cause concern in some models of hybridization. We highlight issues in the identification of a bead's location, and in particular how this both affects and is affected by its intensity. Finally we show that beads can be wrongly identified in the image on either a local or array-wide scale, with obvious implications for data quality.ConclusionsThe image processing issues identified will often pass unnoticed by an analysis of the standard data returned from an experiment. We detail some simple diagnostics that can be implemented to identify problems of this nature, and outline approaches to correcting for such problems. These approaches require access to the raw data from the arrays, not just the summarized data usually returned, making the acquisition of such raw data highly desirable.
Project description:We report our identification of a single coronary ostium arising from the right coronary sinus of Valsalva, in a 63-year-old woman who presented with chest pain atypical of angina. Coronary angiograms showed that the left anterior descending coronary artery arose from a right ventricular branch and that the left circumflex coronary artery arose from a right posterolateral branch. Both arteries reconstituted themselves in a backward fashion from the apex to the base of the heart-a configuration that to our knowledge has not been reported. The patient was treated conservatively and reported no chest pain 24 months later.
Project description:The celiac artery, celiac axis or celiac trunk is the first major abdominal branch of the aorta. Anatomic variations and accessory vessels have been reported with variable percentages. The purpose of this study was to report the pattern of the celiac trunk and its anatomic variations in a sample of Mexican population.Celiac trunk dissection was performed in 140 fresh cadavers. Cadavers of Mexican subjects aged 18 years and older were included. Cadavers with previous upper abdominal surgery, abdominal trauma, disease process that distorted the arterial anatomy or signs of putrefaction were excluded. Celiac trunk variations and external diameter, accessory vessels, and vertebral level of origin were described. Celiac trunk patterns were reported according to the Panagouli classification. This study was reviewed and approved by the Ethics Committee of our Hospital.The celiac trunk derived in a common hepatic artery, a left gastric artery and a splenic artery (type I) in 43.6% of dissections. A true tripod was found in 7.1% and a false tripod in 36.4%. Celiac trunk bifurcation (type II) was found in 7.1%. Additional branches (type III) were observed in 47.9%. One or both phrenic arteries originated from the celiac trunk in 41.4% of dissections. Celiac trunk tetrafurcation was observed in 12.9%, pentafurcation in 12.9%, hexafurcation in 1.4%, and heptafurcation in 0.7%. The mean diameter of the celiac trunk ranged from 6 to 12 mm, with a mean diameter of 7.2 mm (SD = 1.39 mm). No significant difference was found between the diameters of the different types of celiac trunk (P > 0.05). The celiac trunk originated between the 12th thoracic and first lumbar vertebral bodies in 90% of dissections.Trifurcation of the celiac trunk was lower than previously reported. A high proportion of cases with additional vessels were found.
Project description:Members of the genus, Mastrevirus (family, Gemniviridae) transmitted by leafhopper vectors infect monocotyledonous or dicotyledonous plants, and infection of agricultural crops results in reduced yield and quality. During 2012, a study was undertaken in the Punjab and Sindh Provinces in Pakistan to determine the identity of suspect geminiviruses associated with symptomatic cotton and vegetable plants exhibiting foliar enations, leaf curling, mosaic, and stunting reminiscent of geminivirus infection. To determine suspect geminiviral identity, fifteen apparently full-length mastrevirus genome (~ 2600 base pairs) were amplified by rolling-circle amplification, digested, cloned into the plasmid vector, pGEM-3Zf+, and sequenced from cucumber, Gossypium arboreum L., Gossypium hirsutum L., okra and tomato. The mastrevirus full-length genome sequences obtained shared their highest pairwise nucleotide sequence identity, at 97.3-98.6%, with previously reported C and L strains of Chickpea chlorotic dwarf virus (CpCDV) from chickpea and cotton in Pakistan, respectively. However, CpCDV has not been previously identified from cucumber, G. arboreum, okra, or tomato. The association of CpCDV with four previously unreported plant hosts suggests that CpCDV strains C and strain L have a broader than expected host range, and therefore may be found to negatively affect vegetable crops, particularly, when grown in proximity to cotton.
Project description:Efforts to document the distribution of macaques in Thailand have been gradually improving over the past several years. Here we add to the growing database with a summary of a previously unreported population of Rhesus Macaque Macaca mulatta located at Wat Phrabuddhabat Pa Reau in Chiang Rai Province. This work is part of an on-going study addressing human-primate conflict and coexistence in Thailand. The Wat covers an area of about 53 ha consisting of forest and ponds surrounded by an agricultural/rural residential area. The macaques receive some provisioning by the monks, nuns, local residents and occasional tourists. We conducted observations of the macaques and queried the monks, nuns and local residents during 20-21 November 2015 and 22-23 July 2016. Those queried reported population sizes ranging between "100" and "2000" monkeys and 1-4 groups. Based on our observations, we identified at least two groups of approximately 55 and 44 monkeys. All individuals queried reported crop raiding and expressed concern over an "increasing" monkey population and need for effective population management. We plan to follow up with a more intensive survey of this population to better assess conservation concerns, human-primate interaction, and options for healthy coexistence.