56 research outputs found
Hearing impairment in Stickler syndrome: a systematic review
BACKGROUND: Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory defects. It is caused by mutations in different collagen genes, namely COL2A1, COL11A1 and COL11A2 (autosomal dominant inheritance), and COL9A1 and COL9A2 (autosomal recessive inheritance). The auditory phenotype in Stickler syndrome is inconsistently reported. Therefore we performed a systematic review of the literature to give an up-to-date overview of hearing loss in Stickler syndrome, and correlated it with the genotype.
METHODS: English-language literature was reviewed through searches of PubMed and Web of Science, in order to find relevant articles describing auditory features in Stickler patients, along with genotype. Prevalences of hearing loss are calculated and correlated with the different affected genes and type of mutation.
RESULTS: 313 patients (102 families) individually described in 46 articles were included. Hearing loss was found in 62.9%, mostly mild to moderate when reported. Hearing impairment was predominantly sensorineural (67.8%). Conductive (14.1%) and mixed (18.1%) hearing loss was primarily found in young patients or patients with a palatal defect. Overall, mutations in COL11A1 (82.5%) and COL11A2 (94.1%) seem to be more frequently associated with hearing impairment than mutations in COL2A1 (52.2%).
CONCLUSIONS: Hearing impairment in patients with Stickler syndrome is common. Sensorineural hearing loss predominates, but also conductive hearing loss, especially in children and patients with a palatal defect, may occur. The distinct disease-causing collagen genes are associated with a different prevalence of hearing impairment, but still large phenotypic variation exists. Regular auditory follow-up is strongly advised, particularly because many Stickler patients are visually impaired
Hearing impairment in children with Stickler syndrome: review of phenotype and correlation with genotype
Laterality and unilateral deafness : patients with congenital right ear deafness do not develop atypical language dominance
Tetanus in the dog: review and a case-report of concurrent tetanus with hiatal hernia
<p/> <p>Tetanus with hiatal hernia was diagnosed in a four-month-old female sheepdog pup. The animal was treated with tetanus antitoxin, antibiotics, fluids and intensive nursing care for three weeks and subsequently made a full recovery.</p
Feasibility of combined upper and lower gastrointestinal endoscopic biopsy in the common marmoset (Callithrix jacchus) to evaluate gastrointestinal diseases
Background: Chronic gastroenteropathies, including gluten sensitivity and marmoset
wasting syndrome, frequently occur in captive colonies of common marmosets
(Callithrix jacchus). Early identification and diagnosis of affected animals are desirable.
Endoscopic examination of the colon in marmosets is described, but the small
intestine can harbor significant mucosal lesions not representing those in the colon.
Evaluating the small intestine currently requires invasive surgical biopsies due to the
small patient size, carrying a risk of severe complications.
Methods: Endoscopic intubation and multisite biopsy of the duodenum/proximal jejunum
are demonstrated in 10 marmosets under general anesthesia.
Results: Esophagogastroduodenoscopy with colonoscopy efficiently aid in examining
the gastrointestinal tract and obtaining an antemortem histologic diagnosis in marmosets
with chronic gastrointestinal signs.
Conclusions: This minimally invasive technique is feasible in marmosets. Future investigations
into the pathogenesis of chronic gastroenteropathies will benefit from these
data, leading to improved animal welfare and better individual and colony health
management
Comparison of the Pathogenic Potential of Campylobacter jejuni, C. upsaliensis and C. helveticus and Limitations of Using Larvae of Galleria mellonella as an Infection Model
Campylobacter enteritis in humans is primarily associated with C. jejuni/coli infection. Other species cause campylobacteriosis relatively infrequently; while this could be attributed to bias in diagnostic methods, the pathogenicity of non-jejuni/coli Campylobacter spp. such as C. upsaliensis and C. helveticus (isolated from dogs and cats) is uncertain. Galleria mellonella larvae are suitable models of the mammalian innate immune system and have been applied to C. jejuni studies. This study compared the pathogenicity of C. jejuni, C. upsaliensis, and C. helveticus isolates. Larvae inoculated with either C. upsaliensis or C. helveticus showed significantly higher survival than those inoculated with C. jejuni. All three Campylobacter species induced indistinguishable histopathological changes in the larvae. C. jejuni could be isolated from inoculated larvae up to eight days post-inoculation whereas C. upsaliensis and C. helveticus could only be isolated in the first two days. There was a significant variation in the hazard rate between batches of larvae, in Campylobacter strains, and in biological replicates as random effects, and in species and bacterial dose as fixed effects. The Galleria model is applicable to other Campylobacter spp. as well as C. jejuni, but may be subject to significant variation with all Campylobacter species. While C. upsaliensis and C. helveticus cannot be considered non-pathogenic, they are significantly less pathogenic than C. jejuni
The PAH hypothesis after 25 years
The infrared spectra of many galactic and extragalactic objects are dominated
by emission features at 3.3, 6.2, 7.7, 8.6 and 11.2 \mu m. The carriers of
these features remained a mystery for almost a decade, hence the bands were
dubbed the unidentified infrared (UIR) bands. Since the mid-80's, the UIR bands
are generally attributed to the IR fluorescence of Polycyclic Aromatic
Hydrocarbon molecules (PAHs) upon absorption of UV photons -- the PAH
hypothesis. Here we review the progress made over the past 25 years in
understanding the UIR bands and their carriers.Comment: 13 pages, 7 figures. To appear in the proceedings of IAU symposium
280 "The Molecular Universe
Comparison of the Pathogenic Potential of Campylobacter jejuni, C. upsaliensis and C. helveticus and Limitations of Using Larvae of Galleria mellonella as an Infection Model
Campylobacter enteritis in humans is primarily associated with C. jejuni/coli infection. Other species cause campylobacteriosis relatively infrequently ; while this could be attributed to bias in diagnostic methods, the pathogenicity of non-jejuni/coli Campylobacter spp. such as C. upsaliensis and C. helveticus (isolated from dogs and cats) is uncertain. Galleria mellonella larvae are suitable models of the mammalian innate immune system and have been applied to C. jejuni studies. This study compared the pathogenicity of C. jejuni, C. upsaliensis, and C. helveticus isolates. Larvae inoculated with either C. upsaliensis or C. helveticus showed significantly higher survival than those inoculated with C. jejuni. All three Campylobacter species induced indistinguishable histopathological changes in the larvae. C. jejuni could be isolated from inoculated larvae up to eight days post-inoculation whereas C. upsaliensis and C. helveticus could only be isolated in the first two days. There was a significant variation in the hazard rate between batches of larvae, in Campylobacter strains, and in biological replicates as random effects, and in species and bacterial dose as fixed effects. The Galleria model is applicable to other Campylobacter spp. as well as C. jejuni, but may be subject to significant variation with all Campylobacter species. While C. upsaliensis and C. helveticus cannot be considered non-pathogenic, they are significantly less pathogenic than C. jejuni
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