Search results for "malformation"
showing 10 items of 208 documents
Microcephaly and macrocephaly. A study on anthropometric and clinical data from 308 subjects
2019
Head circumference is the auxological parameter that most correlates with developmental anomalies in childhood. Head circumference (HC) two standard deviations (SD) below or above the mean defines microcephaly and macrocephaly, respectively. The aim of this retrospective study was to explore anthropometric parameters and clinical characteristics among subjects with abnormalities in HC who had been referred for developmental assessment. One hundred and sixty four subjects with microcephaly and 144 subjects with macrocephaly were enrolled from birth to 18 months of age. Head circumference at birth and the association with variables related to maternal health status, gestational age, growth pa…
Contact and contactless diffuse reflectance spectroscopy: potential for recovery monitoring of vascular lesions after intense pulsed light treatment.
2011
Optical fiber contact probe diffuse reflectance spectroscopy and remote multispectral imaging methods in the spectral range of 400 to 1100 nm were used for skin vascular malformation assessment and recovery tracing after treatment by intense pulsed light. The results confirmed that oxy-hemoglobin relative changes and the optical density difference between lesion and healthy skin in the spectral region 500 to 600 nm may be successfully used for objective appraisal of the therapy effect. Color redness parameter a* = 2 is suggested as a diagnostic border to distinguish healthy skin and vascular lesions, and as the indicator of phototreatment efficiency. Valuable diagnostic information on large…
The double uterus associated with an obstructed hemivagina: Clinical management
1991
Abstract The clinical management of It) patients, 9 with uterus didelphys and 1 with complete septate uterus associated with an obstructed hemivagina, is described. The diagnostic evaluation revealed a complete unilateral obstruction in four patients, and an anomalous communication between the two uterovaginal channels in six. In all such patients, the presence of regular menses is frequently misleading, perhaps resulting in unnecessary laparotomy and inadequate or extirpative surgery with negative reproductive consequences. However, diagnosis is simplified if the gynecologist is aware of the malformation. Recommended treatment consists of evacuation of the retained menstruum and excision o…
Spontaneous Epileptic Manifestations in a DCX Knockdown Model of Human Double Cortex
2010
Previous reports indicate that in utero knockdown of doublecortin (DCX) results in the genesis of a subcortical heterotopia reminiscent of the doublecortex observed in female patients with DCX mutations. It has also been shown that these rats display an increased susceptibility to convulsant agents and increased cortical neurons excitability; but it is presently unknown whether they display spontaneous seizures. Furthermore, the link between the size of heterotopia and the clinical manifestation remained to be elucidated. Using video--electrocorticogram recordings, we now report that DCX knockdown induces frequent spontaneous seizures commonly associated with myoclonic jerks in adult rats. …
Intraoperative microvascular Doppler monitoring of blood flow within a spinal dural arteriovenous fistula: a precious surgical tool. Case report.
2001
The authors describe a case of spinal arteriovenous fistula (AVF) treated by a microvauscular Doppler–assisted surgical interruption of the arterialized vein. Microvascular Doppler monitoring represents a valid, widely available, non-invasive tool that enables identification, through flow spectrum analysis, of components of this type of vascular malformation. In this case because the location of the fistula was identified prior to opening the dura only minimally invasive surgery was required. Direct recordings of the arterialized draining vein and the nidus of the fistula demonstrated a pathological spectrum caused by the arterial supply and the disturbed venous outflow in which a high-resi…
Split hand/foot malformation with long-bone deficiency andBHLHA9duplication: report of 13 new families
2013
Split hand/foot malformation (SHFM) with long-bone deficiency (SHFLD, MIM#119100) is a rare condition characterized by SHFM associated with long-bone malformation usually involving the tibia. Previous published data reported several unrelated patients with 17p13.3 duplication and SHFLD. Recently, the minimal critical region had been reduced, suggesting that BHLHA9 copy number gains are associated with this limb defect. Here, we report on 13 new families presenting with ectrodactyly and harboring a BHLHA9 duplication.
Scalp, basal epidural and intravascular far-field recordings after median nerve stimulation: evidence for a separate N18a potential
2000
Far-field somatosensory evoked potentials (SSEPs) after median nerve stimulation were recorded from scalp- (Fz), epidural- (ED) and intravascular electrodes (basilar artery [Bas]) to study the nature of the controversial N18a component of the widespread N18 potential. In healthy volunteers frequently an N18a potential was recorded at Fz. Simultaneous Fz and ED recordings at the pontomesencephalic junction as well as Bas-recordings at the caudal basilar artery showed N18a components identical in latency and shape. With intravascular recordings the shapes differed between the top of the basilar artery and the caudal artery recordings. These findings support the existence of a separate N18a po…
Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity
2019
We recently described a new neurodevelopmental syndrome (TAF1/MRXS33 intellectual disability syndrome) (MIM# 300966) caused by pathogenic variants involving the X-linked gene TAF1, which participates in RNA polymerase II transcription. The initial study reported eleven families, and the syndrome was defined as presenting early in life with hypotonia, facial dysmorphia, and developmental delay that evolved into intellectual disability (ID) and/or autism spectrum disorder (ASD). We have now identified an additional 27 families through a genotype-first approach. Familial segregation analysis, clinical phenotyping, and bioinformatics were capitalized on to assess potential variant pathogenicity…
Megalencephaly Syndromes and Activating Mutations in the PI3K-AKT Pathway: MPPH and MCAP
2013
The megalencephaly‐polymicrogyria‐polydactyly‐hydrocephalus (MPPH) and megalencephaly‐capillary malformation (MCAP) syndromes are highly recognizable and partly overlapping disorders of brain overgrowth (megalencephaly). Both syndromes are characterized by congenital or early postnatal megalencephaly, with a high risk for progressive ventriculomegaly leading to hydrocephalus and cerebellar tonsillar ectopia leading to Chiari malformation, and cortical brain abnormalities, specifically polymicrogyria. MCAP is further characterized by distinct cutaneous capillary malformations, finger or toe syndactyly, postaxial polydactyly, variable connective tissue dysplasia and mild focal or segmental bo…
Uterus Transplantation
2018
Uterus transplantation (UTx) has been successfully introduced as a treatment option for women with absolute uterine factor infertility (AUFI). AUFI representing approximately 3% to 5% of the female general population is linked to either congenital uterine agenesis (Mayer-Rokitansky-Küster-Hauser syndrome), major congenital uterine malformation (hypoplastic uterus, fraction of bicornuate/unicornuate uterus), a surgically absent uterus, or an acquired condition (intrauterine adhesions, leiomyoma) linked to uterine malfunction that causes implantation failure or defect placentation. The world's first clinical uterus transplant was performed in 2000. However, a hysterectomy became necessary sho…