1,721,009 research outputs found
Do patients with hypospadias and cryptorchidism share a common phenotype? Case-control study of an Italian paediatric population
No full textOBJECTIVE:
A large number of children affected by hypospadias and undescended testis (UDT) are characterized facially by a large forehead with frontal bossing, telecanthus and broad flat nasal bridge. These traits are classically part of the clinical spectrum of the Opitz-GBBB and other syndromes. The aim of this study was to test the hypothesis that the presence of these features in isolated hypospadias and UDT is not correlated with chromosomal anomalies and/or syndromes, but defines a distinct morphology.
PATIENTS AND METHODS:
Two hundred patients affected by isolated hypospadias and 100 presenting with a UDT were evaluated for facial biometric indices. An age-matched group of patients was used as control. The parameters inter-pupillary/inner canthal ratio and glabella-nose tip/nasion distance were then calculated.
RESULTS:
The glabella-nose tip/nasion distance was significantly different between hypospadias and control groups, but was not different between UDT and control groups. There was no difference in inter-pupillary/inner canthal ratio.
CONCLUSION:
Children affected by hypospadias and/or UDT frequently present peculiar phenotypic features making it possible to recognize them 'at first glance'. This association needs to be explained in future studies
The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF-opathy phenotype
No full textWe describe the second patient with the de novo p.Arg377Trp variant in ACTL6A (Actin-like 6A) (MIM#604958) and a phenotype reminiscent a disorder of the BRG1-associated factor (BAF) complex, including dysmorphic facies and acral malformations. So far, only three patients with ACTL6A variants and neurodevelopmental delay have been reported but the specific p.Arg377Trp mutation seems to correlate with a distinctive phenotype well-fitting a BAFopathy, which lacks in individuals carrying different mutations. This could suggest an emergent genotype-phenotype correlation among the ACTL6A-related phenotype
Paradoxical association of extensive nevus flammeus together with unilaterale lower limb and brest hypoplasia.
No full text
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
A nove heterozygous SOX2 mutation causing anophtalmia/microphtalmia with genital anomalies
No full textAnophthalmia/microphthalmia is a rare developmental craniofacial defect, which recognizes a wide range of causes, including chromosomal abnormalities, single-gene mutations as well as environmental factors. Heterozygous mutations in the SOX2 gene are the most common monogenic form of anophthalmia/microphthalmia, as they are reported in up to 10-15% cases. Here, we describe a sporadic patient showing bilateral anophthalmia/microphthalmia and micropenis caused by a novel mutation (c.59_60insGG) in the SOX2 gene. Morphological and endocrinological evaluations excluded any anomaly of the hypothalamus-pituitary axis. Our finding supports the hypothesis that SOX2 is particularly prone to slipped-strand mispairing, which results in a high frequency of point deletions/insertions
Variations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Clinical and molecular aspects of the neurodevelopmental disorder associated with PAK3 perturbation
No full textX-linked intellectual disability can be diagnosed in about 10–12% of intellectually disabled males. In the past, mutations affecting the PAK3 gene (p21 protein-activated kinase 3, MIM#300142) have been associated with a non-syndromic form of X-linked intellectual disability, which has to date been identified in a limited number of families. Since this neurodevelopmental disorder mostly afflicts males, descriptions of symptomatic female carriers are quite rare. We describe a female patient with neurodevelopmental delay and a novel PAK3 variant. Interestingly, she manifests craniofacial anomalies, including microcephaly, representing the second reported microcephalic female but the first for whom a detailed clinical description is available. She also displays other uncommon clinical findings, which we illustrate. Moreover, a comprehensive clinical and molecular review of all to date published patients has been made. This study contributes to further delineate the PAK3-related phenotype, which can be considered a non-syndromic X-linked intellectual disability, with seemingly recurrent craniofacial abnormalities
HAMP GENE MUTATION C.208T>C (P.C70R) IDENTIFIED IN AN ITALIAN PATIENT WITH SEVERE HEREDITARY HEMOCHROMATOSIS.
No full textHepcidin is a recently identified hormone peptide involved in regulation of iron homeostasis. HAMP gene mutations have been described to date in five families with iron overload. We have identified the c.208T>C (p.C70R) mutation in the HAMP gene in a patient affected by a severe form of hereditary hemochromatosis. The variant, occurring in a highly conserved amino acid, disrupts one of the 4 intramolecular disulphide bonds present in hepcidin molecules of all vertebrates, and is presumably able to destabilize the peptide structure. The investigated patient was also found to harbor a heterozygous HFE c.845G>A (p.C282Y) mutation that may have contributed in increasing his iron burde
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