Search results for "abnormal"

Oral, facial, digital, vertebral anomalies with psychomotor delay: a mild form of OFD type Gabrielli?

2002

A girl with oral, facial, and digital anomalies presented at birth with a large cleft palate filled by a nasopharyngeal mass and was found later to have several vertebral anomalies and mental retardation. A similar phenotype has been previously reported in a sporadic male patient [Gabrielli et al., 1994: Am J Med Genet 53:290-293], suggesting a new variant form of oral-facial-digital syndrome.

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

2015

Item does not contain fulltext Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics screen for defects in biogenesis and/or maintenance of the primary cilium, obtaining a global resource. We identify 112 candidate ciliogenesis and ciliopathy genes, including 44 components of the ubiquitin-proteasome system, 12 G-protein-coupled receptors, and 3 pre-mRNA processing factors (PRPF6, PRPF8 and PRPF31) mutated in autosomal dominant retinitis pigmentosa. The PRPFs localize to the connecting cilium, and PRPF8- and PRPF31-mutated cells have ciliary defects. Combining the screen with exome sequen…

Recommendations for neonatologists and pediatricians working in first level birthing centers on the first communication of genetic disease and malfor…

2021

Abstract Background Genetic diseases are chronic conditions with relevant impact on the lives of patients and their families. In USA and Europe it is estimated a prevalence of 60 million affected subjects, 75% of whom are in developmental age. A significant number of newborns are admitted in the Neonatal Intensive Care Units (NICU) for reasons different from prematurity, although the prevalence of those with genetic diseases is unknown. It is, then, common for the neonatologist to start a diagnostic process on suspicion of a genetic disease or malformation syndrome, or to make and communicate these diagnoses. Many surveys showed that the degree of parental satisfaction with the methods of c…

Imaging in Prune Belly Syndrome and Other Syndromes Affecting the Urogenital Tract

2018

The absence of the abdominal musculature, urinary tract dilatation, and bilateral undescended testis is known as prune belly syndrome (PBS) (Eagle and Barrett 1950; Greskovich and Nyberg 1988; Williams 1982). The classical syndrome is also known as triad syndrome, Eagle-Barrett syndrome, or abdominal muscular deficiency syndrome. There is a broad spectrum of malformations with severe dilatation of the urinary tract as a consequence of aplasia of the musculature. The pathogenetic mechanism is different from that of dilatation as a consequence of supra- or infravesical obstruction. Some patients with prune belly syndrome have a real obstruction, such as urethral aplasia with oligohydramnios s…

Multiple congenital contractures (Congenital multiple arthrogryposis)

2002

Arthrogryposis, is the occurrence of joint contractures of variable etiology that start prenatally. Arthrogryposis may result from neurologic deficit, neuromuscular disorders, connective tissue abnormalities, amniotic bands, [figure: see text] or fetal crowding. Arthrogryposis may result from no apparent hereditary causes (neuropathic, for example) or may be the result of hereditary factors (myopathic form, for example). Ultrasound diagnosis depends on observation of scant or absent motion of fetal extremities. Prognosis depends on the specific etiology of the contractures.

Clinical, dermoscopic, and histologic aspects of two cases of cutaneous focal mucinosis*

2019

Abstract: Cutaneous mucinoses are a complex and diverse group of connective tissue disorders characterized by the accumulation of mucin and/or glycosaminoglycan in the skin and adnexa. Cutaneous focal mucinosis appears as a solitary, asymptomatic, skin-colored to white papule, nodule, or plaque located anywhere on the body or in the oral cavity. It presents mainly in adults and is characterized on histopathology by mucin throughout the upper and mid dermis. We describe the dermoscopy of two cases of cutaneous focal mucinosis. Both lesions presented a nonspecific homogenous whitish pattern; the first case also exhibited a sharply demarcated yellow border.

Anatomical Network Comparison of Human Upper and Lower, Newborn and Adult, and Normal and Abnormal Limbs, with Notes on Development, Pathology and Li…

2015

How do the various anatomical parts (modules) of the animal body evolve into very different integrated forms (integration) yet still function properly without decreasing the individual’s survival? This long-standing question remains unanswered for multiple reasons, including lack of consensus about conceptual definitions and approaches, as well as a reasonable bias toward the study of hard tissues over soft tissues. A major difficulty concerns the non-trivial technical hurdles of addressing this problem, specifically the lack of quantitative tools to quantify and compare variation across multiple disparate anatomical parts and tissue types. In this paper we apply for the first time a powerf…

2019

Objective: Severe malnutrition in patients with anorexia nervosa (AN) as well as possible trait-related aberrations lead to pronounced structural brain changes whose reversibility after recovery is currently unclear. Previous diffusion tensor imaging (DTI) studies investigating white matter (WM) microstructure alterations in AN are inconsistent. Methods: In this so far largest DTI study in adults, we investigated 33 AN patients, 20 recovered (REC), and 33 healthy women. DTI data were processed using the "DTI and Fiber tools," and the Computational Anatomy Toolbox. WM integrity, both in terms of fractional anisotropy (FA) and mean diffusivity (MD), was assessed. Results: We found a significa…

Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype.

2014

Niemann-Pick type C disease is a rare disorder caused by impaired intracellular lipid transport due to mutations in either the NPC1 or the NPC2 gene. Ninety-five % of NPC patients show mutations in the NPC1 gene. A much smaller number of patients suffer from NPC2 disease and present respiratory failure as one of the most frequent symptoms. Several plasma oxysterols are highly elevated in NPC1 and can be used as a biomarker in the diagnosis of NPC1.Plasma cholestane-3β,5α,6β-triol was evaluated as biomarker for NPC2 by GC/MS and LC-MS/MS analysis. The diagnosis was confirmed by Sanger sequencing and filipin staining.We report three NPC2 patients with typical respiratory problems and a detail…

Norrie gene product is necessary for regression of hyaloid vessels.

2004

To investigate the nature and origin of the vitreous membranes in mice with knock-out of the Norrie gene product (ND mice).Eighty-two eyes of ND mice of different age groups (postnatal day [P]0-13 months) and 95 age-matched wild-type control mice were investigated. In vitreoretinal wholemounts and in sagittal sections, vessels and free cells were visualized by labeling for lectin. In addition, staining with a marker for macrophages (F4/80) and collagen XVIII/endostatin known to be involved in regression of hyaloid vessels was performed for light and electron microscopic investigations. Endostatin expression was confirmed by Western blot analysis.Wild-type controls showed the typical pattern…