Top PDF Incidental Radiologic Findings in the 22q11 2 Deletion Syndrome

Incidental Radiologic Findings in the 22q11 2 Deletion Syndrome

Incidental Radiologic Findings in the 22q11 2 Deletion Syndrome

Although the current study supports several prior findings in the literature in a relatively large sample, there are some limita- tions. First, our estimates of a few incidental findings are lower than those reported elsewhere. These differences may be related to subject ascertainment procedures. Specifically, our study selected for higher functioning subjects and therefore may have underes- timated the true prevalence of any incidentals with direct impact on brain function. The lack of cerebellar findings, in particular, was unexpected, given prior reports of vermian and cerebellar hemispheric abnormalities. 13,16,53 Second, our comparisons be-
Show more

6 Read more

White matter microstructure in 22q11 deletion syndrome: a pilot diffusion tensor imaging and voxel-based morphometry study of children and adolescents

White matter microstructure in 22q11 deletion syndrome: a pilot diffusion tensor imaging and voxel-based morphometry study of children and adolescents

potential confound by employing a customised FA brain template derived from all the subjects under study, aiming to minimise both the degree of warping needed for any individual subject, and bias in such warping between the groups. Increased FA did not remain significant in 22q11DS when we included IQ as a covariate, although this may simply reflect a loss of sensitivity (i.e. a type II error) due to the inclusion of two strongly correlated variables (IQ and group) in the analysis (Miller and Chapman 2001). Compared to previous DTI reports in 22q11DS, our study is the first to covary for IQ, and this combined with template considerations (i.e. our use of a study specific template), may have resulted in our findings differing from other work.
Show more

16 Read more

Anatomic Malformations of the Middle and Inner Ear in 22q11 2 Deletion Syndrome: Case Series and Literature Review

Anatomic Malformations of the Middle and Inner Ear in 22q11 2 Deletion Syndrome: Case Series and Literature Review

Of approximately 300 patients followed at the University Medical Center Utrecht and the 1300 patients from Children’s Hospital of Philadelphia, 26 patients (52 ears), 14 males and 12 females, un- derwent radiologic imaging of the temporal bones (11 patients from the University Medical Center Utrecht, 15 patients from Children’s Hospital of Philadelphia). The indications for imaging were hearing loss that could not be explained by otoscopic find- ings (n ⫽ 10), chronic otitis media (n ⫽ 13), both unexplained hearing loss and chronic otitis media (n ⫽ 2), or aureal atresia (n ⫽ 1). MR imaging was performed in 1 patient; all other patients underwent CT of the temporal bones. One patient likely had a second genetic disorder, in addition to a microdeletion on chro- mosome 22q11.2.
Show more

7 Read more

Neural correlates of reward processing in adults with 22q11 deletion syndrome

Neural correlates of reward processing in adults with 22q11 deletion syndrome

Interestingly, similarities in the reward anticipation network exist between 22q11DS and the schizophrenia spectrum. In line with our findings in 22q11DS, previous studies in unmedicated schizophrenia patients showed reduced activity in the cingulate gyrus [49, 56] and a re- cent study in siblings of schizophrenia patients, at in- creased genetic risk for schizophrenia, found fronto- striatal dysfunctioning during reward anticipation [57]. Behavioural studies furthermore found evidence for im- paired functioning on reward tasks that depend on cor- tical regions in people with schizophrenia, which is in line with our results and suggested to be associated with negative symptoms [58, 59]. Interestingly, the clinical pattern in 22q11DS is also characterized by predominant negative symptoms [60, 61].
Show more

12 Read more

22q11 deletion syndrome: a review of the neuropsychiatric features and their neurobiological basis

22q11 deletion syndrome: a review of the neuropsychiatric features and their neurobiological basis

Abstract: The 22q11.2 deletion syndrome (22q11DS) is caused by an autosomal dominant microdeletion of chromosome 22 at the long arm (q) 11.2 band. The 22q11DS is among the most clinically variable syndromes, with more than 180 features related with the deletion, and is associated with an increased risk of psychiatric disorders, accounting for up to 1%–2% of schizophrenia cases. In recent years, several genes located on chromosome 22q11 have been linked to schizophrenia, including those encoding catechol-O-methyltransferase and proline dehydrogenase, and the interaction between these and other candidate genes in the deleted region is an important area of research. It has been suggested that haploinsufficiency of some genes within the 22q11.2 region may contribute to the characteristic psychiatric phenotype and cognitive functioning of schizophrenia. Moreover, an extensive literature on neuroimaging shows reductions of the volumes of both gray and white matter, and these findings suggest that this reduction may be predictive of increased risk of prodromal psychotic symptoms in 22q11DS patients. Experimental and standardized cognitive assessments alongside neuroimaging may be important to identify one or more endophenotypes of schizophrenia, as well as a predictive prodrome that can be preventively treated during childhood and adolescence. In this review, we summarize recent data about the 22q11DS, in particular those addressing the neuropsychiatric and cognitive phenotypes associated with the deletion, underlining the recent advances in the studies about the genetic architecture of the syndrome.
Show more

12 Read more

Linguistic and Nonverbal Abilities over Time in a Child Case of 22q11 Deletion Syndrome

Linguistic and Nonverbal Abilities over Time in a Child Case of 22q11 Deletion Syndrome

The aim of this study is to profile the cognitive–linguistic performance of a male child (P.I.) with 22q11 deletion syndrome (22q11DS). Specifically, receptive and expressive language performance and nonverbal IQ (NVIQ) are described at two different time points—when P.I. was 6 and 10 years of age, respectively. Using case-based methodology, P.I.’s NVIQ and perform- ance on global and structured language tasks are compared to typically developing children of the same chronological age and school-aged children with specific language impairment (SLI). The results show no improvement in NVIQ or vocabulary, but his morphosyntactic abilities did improve over time. The findings are discussed in relation to two hypotheses, either that the profile of language impairment in children with 22q11DS is distinctive to the syndrome or that there is co-morbidity with SLI. This is particularly important for speech–language therapists who have a primary role in diagnosing communication deficits and providing treatment.
Show more

26 Read more

Seizures as the first manifestation of chromosome 22q11 2 deletion syndrome in a 40 year old man: a case report

Seizures as the first manifestation of chromosome 22q11 2 deletion syndrome in a 40 year old man: a case report

Case presentation: A 40-year-old man without significant past medical history presented with a new-onset generalized tonic-clonic seizure. He had no personal history of hypocalcemia or seizures. Physical examination was remarkable for short stature, hypertelorism, prominent forehead and nasal voice. His initial laboratory examination showed hypocalcemia (Calcium 5.2 mg/ dl and Calcium ionized 0.69 mmol/l) with hypoparathyroidism (Parathyroid hormone intact < 2.5 pg/ml. NV: 14–72 pg/ml). Urine Calcium was 3 mg/dl on a spot and 88 mg in a 24-hour urine collection (NV: 100–300 mg/24 hs). The electrocardiogram showed a prolonged corrected QT interval. Echocardiogram, abdominal ultrasound and electroencephalogram were normal. A computer tomography of the brain showed basal ganglia calcification. The subtle physical findings and the presence of idiopathic hypoparathyroidism motivated the performance of fluorescent in situ hybridization which demonstrated a microdeletion on one of the homologs 22q11.2. The patient was treated with calcium citrate and calcitriol with good response.
Show more

5 Read more

Olfactory Disorder in Children With 22q11 Deletion Syndrome

Olfactory Disorder in Children With 22q11 Deletion Syndrome

Other medical conditions also might contribute to olfactory disorder in children with 22q11DS, perhaps the most common of which is VPI. Medical charts indicated that 49% of affected children in this sample were posi- tive for VPI. Given the relatively small sample size, the VPI group included children with and without a history of corrective flap surgery (a surgically created flap does not resolve altered airway patency). No differences were found in the UPSIT scores of affected children with and without a history of VPI. However, sample distribution characteristics importantly inform these findings. The variance of UPSIT scores in affected children with VPI was significantly lower, and, interestingly, lowest among those without a history of surgical correction (Table 1), perhaps indirectly indicating a consistent negative im- pact of (uncorrected) VPI on olfaction in children with 22q11DS. At the same time, an additional analysis that compared only affected children without VPI and sib- lings substantiated a large group difference in odor de- tection. Olfactory disorder in this population seems to have multiple determinants. These findings require rep- lication and additional study.
Show more

9 Read more

Radiologic findings of thoracic trauma

Radiologic findings of thoracic trauma

Because MDCT has been established as the gold standard for imaging evaluation of chest trauma and is used more frequently, radiologists should better familiarize themselves with MDCT findings of chest trauma. Herein, we aimed to present the MDCT findings in patients with blunt and penetrating chest trauma admitted to our department.

5 Read more

Incidental Findings in Liver Autopsy.

Incidental Findings in Liver Autopsy.

I declare that this dissertation entitled “INCIDENTAL FINDINGS IN LIVER AUTOPSY” has been done by me under the guidance and supervision of Prof.Dr.N.SHANTHI VIJAYALAKSHMI, M.D., It is submitted in partial fulfillment of the requirements for the award of the M.D., Pathology March 2008 Examination to be held under The Tamilnadu Dr. M.G.R. Medical University, Chennai. This has not been submitted by me for the award of any degree or diploma from any other University.

89 Read more

Clinical and radiologic findings in progressive facial hemiatrophy (Parry Romberg syndrome)

Clinical and radiologic findings in progressive facial hemiatrophy (Parry Romberg syndrome)

rophy and demonstrates the first phases of a chronic, progressive disease course that is punctuated by acute exacerbations. We dis- agree with Fry et al (1), who discounted the theory of a trigeminal or sympathetic innerva- tion abnormality. Instead, we favor the hypoth- esis of hyperactivity of the sympathetic nervous system, specifically, inflammation of the supe- rior cervical ganglion in a young patient, as the cause of progressive facial hemiatrophy. The division of the sympathetic nervous system into right and left and the distribution of medial and lateral internal carotid nerve branches provide an anatomic basis for the unilateral facial and intracranial manifestations of the disease. The hyperactive vasomotor tone of the intracranial vasculature might explain migraine symptom- atology and normal cerebral angiography. Last, recent animal studies and clinical series lend support to the hyperactive sympathetic nervous system hypothesis as the etiologic mechanism responsible for progressive hemifacial atrophy syndrome (8 –11).
Show more

7 Read more

Blood brain barrier regulation in psychiatric disorders

Blood brain barrier regulation in psychiatric disorders

Further evidence for di ff erences in the BBB in ASD comes from di- rect examination of the BBB itself. The endothelial adhesion molecules platelet endothelial adhesion molecule-1 and P-selectin have been shown to be downregulated in children with ASD, suggestive of im- paired transport of leukocytes across the BBB in ASD [144]. In post- mortem brain tissue samples, there are a number of changes in the tight junction proteins that are suggestive of an altered BBB in the cortex and the cerebellum (Table 2) [154]. Interestingly, Fiorentino and colleagues also showed that there were disruptions in at least one tight junction- related protein (occludin or claudin-1) in 75% of biopsies made in the small intestine but these fi ndings did not reach signi fi cance overall. They did find that pore-forming proteins (claudin-2, -10, and -15) were signi fi cantly increased in ASD small intestine, re fl ecting a more permeable intestinal barrier [154]. This relationship between neuro- logical and gastrointestinal barrier disruption in ASD remains an im- portant area for future research given the high levels of gastrointestinal problems associated with ASD [155] and the proposed interactions between the gut microbiome, inflammation, and neurological symp- toms of ASD [156–159].
Show more

14 Read more

Absent Semicircular Canals in CHARGE Syndrome: Radiologic Spectrum of Findings

Absent Semicircular Canals in CHARGE Syndrome: Radiologic Spectrum of Findings

with a trapped cochlea. One enlarged vestibular aqueduct was associated with a dysplastic modiolus, and 3 were associated with a hypoplastic apical turn. An enlarged vestibular aque- duct is known to have an association with cochlear dysplasia. Twelve of 26 patients had a reversed angle to the vestibular aqueduct with a posteromedial orientation instead of the nor- mal posterolateral orientation. An abnormal vestibular aque- duct orientation has not been reported in the radiologic liter- ature so far. This anomaly is hypothesized to be the result of semicircular aplasia and the associated displacement of nor- mal surrounding structures.
Show more

9 Read more

Capitate-trapezoid synostosis: analysis of an Early Bronze Age case and review of the literature

Capitate-trapezoid synostosis: analysis of an Early Bronze Age case and review of the literature

Carpal coalitions are well-acknowledged anatomi- cal variants, which have been reported in nearly every possible combination. The most frequent pattern recorded in the literature is the lunate-triquetral syn- ostosis [14, 39, 42]. From a paleopathological per- spective, the most ancient case of synostosis of carpal bones, namely a lunate-triquetral coalition, was found in a Neanderthal individual dated at 74.000 to 68.000 years BP [32]. In contrast, CTS has a very uncommon occurrence [14, 39, 42], with only sparse data avail- able in the literature. Of note, a systematic review of the existing literature on CTS is currently lacking. To the best of our knowledge, the case here described is the most ancient CTS ever found in a modern Homo sapiens. The modern literature on CTS goes back to 1883, when Anderson [3] provided the first account of this type of anomaly. At first glance, literature records appear rather heterogeneous. Some CTS de- scriptions refer to individuals, others to dissected wrists. Some cases were noticed as incidental find- ings, e.g., by sampling isolated bones, or during au- topsy or observation of radiographic images (Fig. 5). Disappointingly, in several studies the number and sex of affected individuals, as well as the affected side and the frequency of bilateral forms are not specified. Clinical correlates are rarely reported as well. Thus, many of the previously published cases are poorly documented. As a matter of fact, little can be drown about the general characteristics of this type of synostosis. Being the sample too small to allow conclusive data, a descriptive summary of demographic, anatomical and clinical characteristics of the CTS population is presented in Table 2.
Show more

8 Read more

A review of the issues surrounding incidental findings on
CT attenuation correction (CTAC ) images during SPECT
myocardial perfusion imaging

A review of the issues surrounding incidental findings on CT attenuation correction (CTAC ) images during SPECT myocardial perfusion imaging

Results of lung cancer screening trials suggest that there needs to be a balance between early intervention to reduce mortality and risks of early morbidity and mortality from unnecessary intervention; mortality must be reduced and the benefits to the patient must outweigh the risks (6),(7). Lung cancer screening with CT has not been adopted universally because of the high rate of false-positive findings and over-diagnosis of indolent tumours that might not have become significant in a patient’s lifetime. These findings have cost implications as well as increasing patient anxiety and morbidity (9).
Show more

11 Read more

The practice of reporting pulmonary nodules as incidental findings in the radiology department at the ZGT

The practice of reporting pulmonary nodules as incidental findings in the radiology department at the ZGT

Specifically for the follow-up policy of pulmonary nodules, the ZGT aims to follow the Fleischner guidelines of 2017. The Fleischner guidelines were designed to set a standard for follow-up policies that best fit certain risk-profiles. Here, the variables multiplicity, patient’s risk-profile, morphology and the size of the pulmonary nodules are used to distinguish which policy is required for the patients [6]. McMahon et al (2017) reports the guidelines for the management of incidental pulmonary nodules by the Fleischner society, which can be displayed in a decision tree (see appendix 1). According to McMahon et al (2017), patients with pulmonary nodules that have a size of less than six millimetres do not require to receive follow-up. Only when these patients have a high risk profile, the guidelines recommend an optional 12 month follow-up [6]. The exception is for when there is an occurrence of multiple sub-solid lesions, which require a follow-up period of three to six months. When the diameter of the largest pulmonary nodule exceeds the six millimetres, follow-up is recommended in all cases. The required period is then dependent on other risk factors for malignancy [6]. The period for follow-up is determined by the pulmonologist. The role of the radiologist is to ensure that the findings are communicated to the pulmonologist and recommendations can be given for follow-up.
Show more

26 Read more

Deletion 22q13.3 syndrome

Deletion 22q13.3 syndrome

Behavioral features of Phelan-McDermid syndrome include poor eye contact, stereotypic movements, decreased socialization, and language impairment con- sistent with autism spectrum disorders [6-10]. About 3– 6% of autistic individuals have a chromosome abnormal- ity identified by standard karyotyping. Deletion 22q13 has been shown to be one of the common chromosome defects associated with autism [4]. The term "syndromic autism" has been suggested for autism accompanied by dysmorphic features and the 22q13 deletion syndrome was cited as an example of a genetic disorder characterized by autistic behavior [11]. Other specific behavioral char- acteristics include: chewing/mouthing of non-food items, teeth grinding, tongue thrusting and aggressive behavior [10].
Show more

6 Read more

Craniopharyngioma: radiologic and histologic findings and recurrence

Craniopharyngioma: radiologic and histologic findings and recurrence

Pertinent data, including radiologic and pathologic findings, treatment, and tumor re- currence, for the 45 patients are summarized in Table 1. The 10 patients treated initially at other institutions between 1966 and 1986 are not in- cluded in the drawings of the radiologic appear- ances of the tumors as depicted in Figure 2. Eight additional patients had only postoperative CT or MR studies available; these are noted in Table 1. Because no actual measurements of preoperative tumor volume or estimates of pre- operative tumor composition volumes could be made in these eight patients, line drawings of these tumors are not included in Figure 2. How- ever, the presence or absence of calcium and cyst was noted in Table 1 from information available in the charts and postoperative im- ages.
Show more

13 Read more

Respiratory Failure and Hypercoagulability in a Toddler With Lemierre's Syndrome

Respiratory Failure and Hypercoagulability in a Toddler With Lemierre's Syndrome

F necrophorum was isolated from 2 sets of blood cultures that were taken on admission. CSF culture was sterile. Culture from the ear discharge was positive for Streptococcus pneumonia and Haemophilus influenzae. Serologic studies showed an elevated an- tistreptolysin O titer of 347 IU/mL and immunoglobulin M titers for Epstein-Barr virus and cytomegalovirus were negative.

5 Read more

Two patients with chromosome 22q11 2 deletion presenting with childhood obesity and hyperphagia

Two patients with chromosome 22q11 2 deletion presenting with childhood obesity and hyperphagia

She initially had no feeding problems, however following weaning to solids she developed a large appetite. At 13 months, following surgery for the correction of patent ductus arteriosus, she started gaining weight. By age 6 her weight was on the 99 th centile (37.4kg), height was on the 91 st (121.3cm) and head circumference between the 2 nd and 9 th (50cm). Her parents experienced difficulties in controling her constant, food-seeking behaviour. She developed significant truncal obesity with gynaecomastia.

7 Read more

Show all 10000 documents...