Search results for "Malformation"

Morphometric analysis of the shells of the Genus Bolivina from the Gulf of Gela (Sicilian Channel, Italy): a valid classification instrument?

2010

UNA RARA COMPLICANZA DEL DIVERTICOLO INTRALUMINALE DEL DUODENO

1986

The Authors report a case of intraluminal diverticulum of the duodenum complicated by endodiverticulum litiasis

Multiple Congenital Colonic Stenosis: Case Report and Review of the Literature

2015

Congenital malformations affecting the colon are rare pediatric conditions often presenting as obstruction. Colonic atresia accounts for 5-­‐10% of atresia in newborns, stenosis is even more rare.Since 1968, only 16 cases of CCS have been reported in literature (Table 1). Because of the rarity of the disease, little is known about this uncommon condition and management is still controversial. We present a case of multiple congenital colonic stenosis and review the literature with a special focus on management of CCS. To the authors' knowledge, multiple congenital colonic stenosis has not been reported previously in the literature.

Basilar Invagination, Bone Regrowth, Chiari malformation, Clivus, Odontoid Process, Transoral Odontoidectomy

2014

Purpose: Transoral odontoidectomy followed by occipito-cervical fixation is a widely used approach to relieve ventral compressions at the craniovertebral junction (CVJ). Despite the large amount of literature on this approach and its complications, no previous reports of odontoid process and clival regeneration following transoral odontoidectomy are present in the English literature. Methods: We report the case of odontoid process and clival regeneration following transoral odontoidectomy. Results: A 7 year-old boy presented with symptoms of brainstem and upper cervical spinal cord compression due to a complex malformation at the CVJ including a basilar invagination with Chiari malformation…

Cavernous haemangioma of the external auditory canal: clinical case and review of the literature

2012

Although benign vascular lesions are frequent in the head and the neck region, clinical evidence of cavernous haemangioma of the external auditory canal is extremely rare; when present, the lesion invades the middle ear space. Herein, a rare case of a soft mass filling the external auditory canal, not involving the tympanic membrane, in a symptomatic 59-year-old male is described. Clinical and audiological characteristics, imaging studies and surgical treatment with histological evaluation are reported, which led to a diagnosis of a cavernous haemangioma. This is only the seventh case described in the literature, to date, not involving the tympanic membrane and the middle ear space. In addi…

ROLE OF ENDOVASCULAR EMBOLIZATION IN THE MULTIDISCIPLINARY MANAGEMENT OF RUPTURED BRAIN ARTERIOVENOUS MALFORMATIONS

2022

Brain arteriovenous malformations (bAVMs) are congenital defects of vasculogenesis, the natural history of which is characterized by a significant morbidity and mortality related to the risk of bleeding. Their management remains challenging, since complete eradication is often difficult. Embolization, surgery, or radiosurgery alone are safe and effective for small unruptured AVMs, while a multidisciplinary approach should be pursued for larger ones. We report a case of intracerebral haemorrhage due to the rupture of a large bAVM, for which a multidisciplinary approach was adopted: endovascular partial embolization followed by complete surgical removal.

Malformations of central nervous system: General issues

2013

Malformations of the central nervous system (CNS) encompass a heterogeneous group of congenital anomalies that may be isolated or appear as part of a genetic syndrome. Advances in identifying the genetic etiology underlying many CNS malformation and syndromes have led to the current genetic-based classifications that allows us to better estimate prognosis and potential complications. Herein, we discuss the main genetic, clinical and radiological features and their implications for diagnostic testing and disease management

T-shaped Uterus, Other Studies are Needed But What Can We Do in The Meantime?

2022

Dysmorphic uterus is a condition that can affect fertility differently depending on the type of malformation. The most common uterine malformation is the septum but other uterine malformations can affect fertility, as t-shaped uterus

Volume scanning in the evaluation of fetal malformations: a new dimension in prenatal diagnosis

1995

Three-dimensional ultrasound examination was performed in 204 patients with a fetal malformation detected by conventional ultrasound. The patients were examined between 13 and 40 weeks of gestation. The ultrasound equipment used was a Combison 330 and a Combison 530 (Kretztechnik, Austria) with an abdominal Voluson sector transducer (3.5/5 MHz) (Kretztechnik, Austria). This ultrasound system can provide a high-quality three-dimensional surface or translucency image of fetal structures similar to that of a photograph or an X-ray image within seconds without an additional expensive work-station. Of the 204 patients examined with three-dimensional ultrasound, this technique proved advantageous…

Congenital anomalies from a physics perspective. The key role of "manufacturing" volatility

2020

Genetic and environmental factors are traditionally seen as the sole causes of congenital anomalies. In this paper we introduce a third possible cause, namely random "manufacturing" discrepancies with respect to ``design'' values. A clear way to demonstrate the existence of this component is to ``shut'' the two others and to see whether or not there is remaining variability. Perfect clones raised under well controlled laboratory conditions fulfill the conditions for such a test. Carried out for four different species, the test reveals a variability remainder of the order of 10%-20% in terms of coefficient of variation. As an example, the CV of the volume of E.coli bacteria immediately after…