scholarly journals Systematic Description of 3q29 Duplication Syndrome Reveals New Syndromic Phenotypes: Results from the 3q29 Registry

2019 ◽  
Author(s):  
Rebecca M Pollak ◽  
Michael C Zinsmeister ◽  
Melissa M Murphy ◽  
Michael E Zwick ◽  
Jennifer G Mulle ◽  
...  
Keyword(s):  
Case Reports ◽  
Full Range ◽  
High Rate ◽  
Deletion Syndrome ◽  
Social Responsiveness ◽  
Feeding Problems ◽  
Genomic Disorder ◽  
Social Disability ◽  
Demographic Questionnaire ◽  
Duplication Syndrome

ABSTRACT3q29 duplication syndrome (3q29Dup) is a rare genomic disorder caused by the reciprocal duplication of the 1.6 Mb 3q29 deletion syndrome region. Case reports indicate the 3q29Dup is likely to be pathogenic, but because no systematic study of the syndrome exists, the full range of manifestations is not well-understood. To develop a better understanding of 3q29 duplication syndrome, we used the 3q29 registry (https://3q29deletion.patientcrossroads.org/) to ascertain 31 individuals with 3q29Dup, the largest cohort ever surveyed in a systematic way. For comparison, we ascertained 117 individuals with the reciprocal 3q29 deletion syndrome (3q29Del) and 64 typically developing controls. We used a custom medical and demographic questionnaire to assess physical and developmental phenotypes, and two standardized instruments, the Social Responsiveness Scale (SRS) and Achenbach Behavior Checklists (CBCL/ABCL), to assess social disability. We find that our 3q29Dup participants report a high rate of problems in the first year of life (80.6%), including feeding problems (58%), failure to gain weight (42%), hypotonia (39%), and respiratory distress (29%). In early childhood, learning problems (87.1%) and seizures (25.8%) are common. Additionally, we find a rate of self-reported ASD diagnoses (39%) similar to that previously identified in 3q29Del (29%), and the granular characteristics of social disability measured using the SRS and CBCL/ABCL are comparable between 3q29Dup and 3q29Del. This is the most comprehensive description of 3q29Dup to date. Our findings can be used to develop evidence-based strategies for early intervention and management of 3q29 duplication syndrome.

scholarly journals Episodic Behavioural Regression in an 8-Year-Old Female: Sequelae of 22q11.2 Duplication Syndrome

2018 ◽  
Vol 2018 ◽  
pp. 1-3
Author(s):  
A. Bahji ◽  
S. Khalid-Khan
Keyword(s):  
Case Reports ◽  
22Q11.2 Deletion Syndrome ◽  
Autism Spectrum ◽  
Deletion Syndrome ◽  
Medical Illness ◽  
22Q11.2 Deletion ◽  
Genetic Syndrome ◽  
Potential Risk Factors ◽  
22Q11.2 Duplication Syndrome ◽  
Duplication Syndrome

22q11.2 duplication syndrome is a recently discovered genetic syndrome with unclear neuropsychiatric sequelae. While its connection to 22q11.2 deletion syndrome is actively investigated, case reports on the neuropsychiatric sequelae of affected individuals have been previously described, largely focusing on comorbid autism spectrum disorder. Here, we present the case of an 8-year-old female experiencing episodes of severe behavioural regression following medical illness. We analyze the case and relate it to the available literature and identify potential risk factors.

Neonatal aortic arch thrombosis: analysis of thrombophilic risk factors and prognosis

2013 ◽  
Vol 24 (1) ◽  
pp. 33-39 ◽  
Author(s):  
Ivonne Wieland ◽  
Thomas Jack ◽  
Kathrin Seidemann ◽  
Martin Boehne ◽  
Florian Schmidt ◽  
...  
Keyword(s):  
Risk Factors ◽  
Risk Factor ◽  
Aortic Arch ◽  
Case Reports ◽  
Statistical Significance ◽  
Rare Event ◽  
Factor V Leiden ◽  
High Rate ◽  
Factor V ◽  
Factor V Leiden Mutation

AbstractArterial thrombosis in neonates and children is a rare event and is often associated with external risk factors such as asphyxia or sepsis. We report our experiences with two neonates with spontaneous aortic arch thrombosis mimicking aortic coarctation. Despite single case reports until now, no data exist for the underlying thrombophilic risk factors and prognosis of this rare event. Both patients were carriers of a heterozygous factor V Leiden mutation, which has been reported once before as a risk factor for aortic arch thrombosis. One of our patients was operated upon successfully and is alive. The second patient suffered a large infarction of the right medial cerebral artery and had a thrombotic occlusion of the inferior caval vein. The patient obtained palliative care and died at the age of 6 days. In the literature, we identified 19 patients with neonatal aortic arch thrombosis. Of the 19 patients, 11 (58%) died. Including the two reported patients, the mortality rate of patients with multiple thromboses was 80% (8/10) compared with 18% (2/11) for patients with isolated aortic arch thrombosis; this difference reached statistical significance (p = 0.009). The analysis of thrombophilic disorders revealed that factor V Leiden mutation and protein C deficiency seem to be the most common risk factors for aortic arch thrombosis.Conclusion:Neonatal aortic arch thrombosis is a very rare but life-threatening event, with a high rate of mortality, especially if additional thrombotic complications are present. Factor V Leiden mutation seems to be one important risk factor in the pathogenesis of this fatal disease.

scholarly journals Use of Particulated Juvenile Articular Cartilage Allograft for Osteochondral Lesions of the Wrist

Hand ◽  
2016 ◽  
Vol 12 (5) ◽  
pp. NP62-NP67 ◽  
Author(s):  
Daniel E. Hess ◽  
Brian C. Werner ◽  
D. Nicole Deal
Keyword(s):  
Articular Cartilage ◽  
Case Reports ◽  
New Technology ◽  
Full Range ◽  
Osteochondral Lesions ◽  
Appropriate Treatment ◽  
Cartilage Injuries ◽  
Articular Cartilage Injuries ◽  
Outerbridge Grade ◽  
Active Patients

Background: Articular cartilage injuries are a common injury among young, active patients, and the most appropriate treatment for these injuries remains controversial. A promising new technology in the treatment of high-grade cartilage injuries is particulated juvenile articular cartilage (PJAC) allograft (DeNovo NT, Zimmer, Warsaw, Indiana). This has been shown to be successful in multiple joints including the knee, talus, and elbow. No studies or case reports exist in supporting or discouraging its use in injuries of the wrist, in specific, the scaphoid. Methods: The use of PJAC allograft is described for the treatment of an active 21-year-old male with an Outerbridge Grade IV chondral lesion on the proximal pole of his right scaphoid and right distal radius scaphoid facet who had failed conservative management. The patient was followed clinically and radiographically for 21 months. Results: The patient had return to full sport (jujutsu) and full range-of-motion, both of which represented an improvement from his preoperative exam. Radiographically, the chondral lucency seen had decreased in size and was almost completely absent on radiographs after 21 months. Conclusions: The results of this case suggest that PJAC can be used safely and effectively in the wrist thereby potentially broadening the indications for its use.

The Neuropathology of 1p36 Deletion Syndrome: An Autopsy Case Series

2021 ◽  
Author(s):  
Kyle S Conway ◽  
Fozia Ghafoor ◽  
Amy C Gottschalk ◽  
Joseph Laakman ◽  
Renee L Eigsti ◽  
...  
Keyword(s):  
Neuronal Migration ◽  
Single Case ◽  
Case Reports ◽  
Case Series ◽  
Deletion Syndrome ◽  
Cerebellar Hypoplasia ◽  
Autopsy Case ◽  
Single Case Report ◽  
Renal Abnormalities

Abstract 1p36 deletion syndrome is the most common terminal deletion syndrome, manifesting clinically as abnormal facies and developmental delay with frequent cardiac, skeletal, urogenital, and renal abnormalities. Limited autopsy case reports describe the neuropathology of 1p36 deletion syndrome. The most extensive single case report described a spectrum of abnormalities, mostly related to abnormal neuronal migration. We report the largest published series of 1p36 autopsy cases, with an emphasis on neuropathologic findings. Our series consists of 3 patients: 2 infants (5-hours old and 23-days old) and 1 older child (11 years). Our patients showed abnormal cortical gyration together with a spectrum of neuronal migration abnormalities, including heterotopias and hippocampal abnormalities, as well as cerebellar hypoplasia. Our findings thus support the role of neuronal migration defects in the pathogenesis of cognitive defects in 1p36 deletion syndrome and broaden the reported neuropathologic spectrum of this common syndrome.

scholarly journals Application of Low Doses of Ionizing Radiation in Medical Therapies

Dose-Response ◽  
2020 ◽  
Vol 18 (1) ◽  
pp. 155932581989573 ◽  
Author(s):  
Jerry M. Cuttler
Keyword(s):  
Ionizing Radiation ◽  
Low Dose ◽  
Medical Profession ◽  
Case Reports ◽  
Damage Control ◽  
Bone Sarcoma ◽  
High Rate ◽  
X Rays ◽  
The Public ◽  
Internal Sources

The discovery of X-rays and radioactivity in 1895/1896 triggered a flood of studies and applications of radiation in medicine that continues to this day. They started with imaging fractures/organs and progressed to treating diseases by exposing areas to radiation from external and internal sources. By definition, low-dose treatments stimulate damage control (or adaptive protection) systems that remedy diseases. Publications are identified on low-dose ionizing radiation (LDIR) therapies for different cancers, infections, inflammations, and autoimmune and neurodegenerative diseases. The high rate of endogenous DNA damage, due to leakage of oxygen from aerobic metabolism, and the damage control systems that deal with this are discussed. Their stimulation and inhibition by radiation are described. The radium dial painter studies revealed the radium ingestion threshold for malignancy and the dose threshold for bone sarcoma. The radiation scare that misled the medical profession and the public is a barrier to LDIR therapies. Many studies on nasal radium irradiation demonstrated that children are not unduly radiation sensitive. Omissions in the medical textbooks misinform physicians about the effects of LDIR therapy, which blocks clinical trials to determine optimal doses, efficacy, and thresholds for onset of harm. Information from many recent case reports on LDIR therapies, including successes with radon therapy, is provided.

scholarly journals State of Play: Eight Decades of Surgery for Esophageal Atresia

2018 ◽  
Vol 29 (01) ◽  
pp. 039-048 ◽  
Author(s):  
Julia Zimmer ◽  
Simon Eaton ◽  
Louise Murchison ◽  
Paolo De Coppi ◽  
Benno Ure ◽  
...  
Keyword(s):  
Mortality Rate ◽  
Esophageal Atresia ◽  
Literature Search ◽  
Oesophageal Atresia ◽  
Case Reports ◽  
Full Range ◽  
Technical Equipment ◽  
Recurrent Fistula ◽  
Stricture Rate

Aim Surgical expertise and advances in technical equipment and perioperative management have led to enormous progress in survival and morbidity of patients with esophageal atresia (EA) in the last decades. We aimed to analyze the available literature on surgical outcome of EA for the past 80 years. Materials and Methods A PubMed literature search was conducted for the years 1944 to 2017 using the keywords “esophageal/oesophageal atresia,” “outcome,” “experience,” “management,” and “follow-up/follow up.” Reports on long-gap EA only, non-English articles, case reports, and reviews without original patient data were excluded. We focused on mortality and rates of recurrent fistula, leakage, and stricture. Results Literature search identified 747 articles, 118 manuscripts met the inclusion criteria. The first open end-to-end anastomosis and fistula ligation was reported in 1941. Thoracoscopic fistula ligation and primary anastomosis was performed first in 2000. Reported mortality rate decreased from 100% before 1941 to 54% in 1950 to 1959, 28% in 1970 to 1979, 16% in 1990 to 1999, and 9% nowadays. Rates of recurrent fistula varied over time between 4 and 9%. Leakage rate remained stable between 11 and 16%. However, stricture rate increased from 25 to 38%. Conclusion Including a full range of articles reflecting the heterogeneity of EA, mortality rate significantly decreased during the course of 80 years. Along with the decrease in mortality, there is a shift to the importance of major postoperative complications and long-term morbidity regardless of surgical technique.

Neurometabolic disorders

2011 ◽  
Author(s):  
Tony McShane ◽  
Peter Clayton ◽  
Michael Donaghy ◽  
Robert Surtees
Keyword(s):  
Nervous System ◽  
United Kingdom ◽  
Metabolic Diseases ◽  
Full Range ◽  
Adult Life ◽  
Neurological Deterioration ◽  
High Rate ◽  
Screening Tests ◽  
The United Kingdom ◽  
Neurometabolic Disorders

Various disorders result from genetically determined abnormalities of enzymes, the metabolic consequences of which affect the development or functioning of the nervous system. The range of metabolic disturbances is wide, as is the resultant range of clinical syndromes. Although most occur in children, some can present in adult life, and increasing numbers of affected children survive into adult life. In some, specific treatments are possible or are being developed. The last 20 years has seen a considerable expansion in our understanding of the genetic and metabolic basis for many neurological conditions. Particular clinical presentations of neurometabolic disorders include ataxias, movement disorders, childhood epilepsies, or peripheral neuropathy. Detailed coverage of the entire range of inherited metabolic diseases of the nervous system is available in other texts (Brett 1997; Scriver et al. 2001; Menkes et al. 2005).Treatment is possible for some metabolic diseases. For instance, the devastating neurological effects of phenylketonuria have been recognized for many years. Neonatal screening for this disorder and dietary modification in the developed world has removed phenylketonuria from the list of important causes of serious neurological disability in children. This success has led to new challenges in the management of the adult with phenylketonuria and unexpected and devastating effect of the disorder on the unborn child of an untreated Phenylketonuria mother. More recently Biotinidase deficiency has been recognized as an important and easily treatable cause of serious neurological disease usually presenting with early onset drug resistant seizures. This and some other neurometabolic diseases can be identified on neonatal blood screening although a full range of screening is not yet routine in the United Kingdom. More disorders are likely to be picked up at an earlier asymptomatic stage as the sophistication of screening tests increases (Wilcken et al. 2003; Bodamer et al. 2007).Although individual metabolic disorders are rare, collectively such disorders are relatively common. In reality most clinicians will see an individual condition only rarely in a career. Furthermore, patients with certain rare conditions are often concentrated in specialist referral centres, further reducing the exposure of general and paediatric neurologists to these disorders. A recent study into progressive intellectual and neurological deterioration, PIND, gives some information about the relative frequency and distribution of some childhood neurodegenerative diseases in the United Kingdom (Verity et al. 2000; Devereux et al. 2004). Although primarily designed to identify any childhood cases of variant Creutzfeldt- Jakob disease, the study also provided much information about the distribution of neurometabolic disease in children in the United Kingdom. The commonest five causes of progressive intellectual and neurological deterioration over 5 years were Sanfilippo syndrome, 41 cases, adrenoleukodystrophy, 32 cases, late infantile neuronal ceroid lipofuschinosis, 32 cases, mitochondrial cytopathy, 30 cases, and Rett syndrome, 29 cases. Notably, geographical foci of these disorders were also found and correlate with high rate of consanguinity in some local populations.

scholarly journals A novel 14q13.1–21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency

2019 ◽  
Vol 12 (1) ◽  
Author(s):  
Xuyun Hu ◽  
Jun Liu ◽  
Ruolan Guo ◽  
Jun Guo ◽  
Zhipeng Zhao ◽  
...  
Keyword(s):  
De Novo ◽  
Deletion Syndrome ◽  
Tooth Agenesis ◽  
Diagnostic Strategy ◽  
Genomic Disorder ◽  
Case Presentation ◽  
Whole Exome ◽  
Number Variation ◽  
Phenotype Heterogeneity ◽  
Genomic Disorders

Abstract Background Chromosome 14q11-q22 deletion syndrome (OMIM 613457) is a rare genomic disorder. The phenotype heterogeneity depends on the deletion size, breakpoints and genes deleted. Critical genes like FOXG1, NKX2–1, PAX9 were identified. Case presentation We performed whole exome sequencing (WES) and copy number variation sequencing (CNV-seq) for a patient with mild speech and motor developmental delay, short stature, recurrent pulmonary infections, tooth agenesis and triad of brain-lung-thyroid syndrome. By using CNV-seq, we identified a 3.1 Mb de novo interstitial deletion of the 14q13.2q21.1 region encompassing 17 OMIM genes including NKX2–1, PAX9 and NFKBIA. Our patient’s phenotype is consistent with other published 14q13 deletion patients. Conclusion Our results showed the combination of WES and CNV-seq is an effective diagnostic strategy for patients with genetic or genomic disorders. After reviewing published patients, we also proposed a new critical region for 14q13 deletion syndrome with is a more benign disorder compared to 14q11-q22 deletion syndrome.

scholarly journals Radiotherapy Planning and Molecular Imaging in Lung Cancer

2020 ◽  
Vol 13 (3) ◽  
pp. 204-217
Author(s):  
Angelina Filice ◽  
Massimiliano Casali ◽  
Patrizia Ciammella ◽  
Marco Galaverni ◽  
Federica Fioroni ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Case Reports ◽  
Locally Advanced ◽  
Inflammatory Cells ◽  
High Rate ◽  
Radiotherapy Planning ◽  
High Dose ◽  
18F Fdg

Introduction: In patients suitable for radical chemoradiotherapy for lung cancer, 18F-FDGPET/ CT is a proposed management to improve the accuracy of high dose radiotherapy. However, there is a high rate of locoregional failure in patients with locally advanced non-small cell lung cancer (NSCLC), probably due to the fact that standard dosing may not be effective in all patients. The aim of the present review was to address some criticisms associated with the radiotherapy image-guided in NSCLC. Materials and Methods: A systematic literature search was conducted. Only published articles that met the following criteria were included: articles, only original papers, radiopharmaceutical ([18F]FDG and any tracer other than [18F]FDG), target, only specific for lung cancer radiotherapy planning, and experimental design (eventually “in vitro” studies were excluded). Peer-reviewed indexed journals, regardless of publication status (published, ahead of print, in press, etc.) were included. Reviews, case reports, abstracts, editorials, poster presentations, and publications in languages other than English were excluded. The decision to include or exclude an article was made by consensus and any disagreement was resolved through discussion. Results: Hundred eligible full-text articles were assessed. Diverse information is now available in the literature about the role of FDG and new alternative radiopharmaceuticals for the planning of radiotherapy in NSCLC. In particular, the role of alternative technologies for the segmentation of FDG uptake is essential, although indeterminate for RT planning. The pros and cons of the available techniques have been extensively reported. : Conclusion: PET/CT has a central place in the planning of radiotherapy for lung cancer and, in particular, for NSCLC assuming a substantial role in the delineation of tumor volume. The development of new radiopharmaceuticals can help overcome the problems related to the disadvantage of FDG to accumulate also in activated inflammatory cells, thus improving tumor characterization and providing new prognostic biomarkers.

scholarly journals Reproductive Health Issues for Adults with a Common Genomic Disorder: 22q11.2 Deletion Syndrome

2015 ◽  
Vol 24 (5) ◽  
pp. 810-821 ◽  
Author(s):  
Chrystal Chan ◽  
Gregory Costain ◽  
Lucas Ogura ◽  
Candice K. Silversides ◽  
Eva W.C. Chow ◽  
...  
Keyword(s):  
Reproductive Health ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
Health Issues ◽  
Genomic Disorder ◽  
22Q11.2 Deletion
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