scholarly journals Effects of RTTN Gene Mutations and the Need for Complementary cDNA Analysis for Some Transcripts

2020 ◽  
Vol 4 (3) ◽  
Keyword(s):  
Multidisciplinary Approach ◽  
Genetic Diseases ◽  
Radiological Finding ◽  
Gene Mutations ◽  
Multiple Congenital Anomalies ◽  
Radiological Findings ◽  
Cdna Analysis ◽  
Uncertain Significance ◽  
Gene Transcripts

Introduction: Prenatal WES analysis is currently required in prenatal diagnosis in case of multiple congenital anomalies and in families where some genetic diseases are reported. However, with development of prenatal WES, practitioners are sometimes facing a lot of challenge regarding interpretation of the genetic results. Method: Prenatal WES analysis. Result: Detection of two different RTTN gene transcripts in fetal WES. One of the transcripts showed RTTN homozygous gene mutation while the other transcript was normal. Discussion: This result emphasizes difficulty of genetic counselling in case of absence of prenatal radiological findings or late findings. Conservative fetal follow up was advised because of absence of any positive radiological finding. Conclusion: This article presents the multidisciplinary approach in prenatal and postnatal counselling for cases with quiry fetal genetic findings and illustrates the urgent need for development of transcriptome analysis for the fetus with WES findings of uncertain significance.

scholarly journals Effects of RTTN Gene Mutations and the Need for Complementary cDNA Analysis for Some Transcripts

2020 ◽  
Vol 4 (3) ◽  
Keyword(s):  
Multidisciplinary Approach ◽  
Genetic Diseases ◽  
Radiological Finding ◽  
Gene Mutations ◽  
Multiple Congenital Anomalies ◽  
Radiological Findings ◽  
Cdna Analysis ◽  
Uncertain Significance ◽  
Gene Transcripts

Introduction: Prenatal WES analysis is currently required in prenatal diagnosis in case of multiple congenital anomalies and in families where some genetic diseases are reported. However, with development of prenatal WES, practitioners are sometimes facing a lot of challenge regarding interpretation of the genetic results. Method: Prenatal WES analysis. Result: Detection of two different RTTN gene transcripts in fetal WES. One of the transcripts showed RTTN homozygous gene mutation while the other transcript was normal. Discussion: This result emphasizes difficulty of genetic counselling in case of absence of prenatal radiological findings or late findings. Conservative fetal follow up was advised because of absence of any positive radiological finding. Conclusion: This article presents the multidisciplinary approach in prenatal and postnatal counselling for cases with quiry fetal genetic findings and illustrates the urgent need for development of transcriptome analysis for the fetus with WES findings of uncertain significance.

scholarly journals Paraliticka dislokacija kuka kod cerebralne paralize - hirursko lecenje mekotkivnim postupcima

2005 ◽  
Vol 52 (2) ◽  
pp. 49-53
Author(s):  
Goran Cobeljic ◽  
Zoran Bajin ◽  
S. Milickovic ◽  
Aleksandar Lesic ◽  
O. Krajcinovic
Keyword(s):  
Cerebral Palsy ◽  
Soft Tissue ◽  
Excellent Result ◽  
Radiological Finding ◽  
Radiological Findings ◽  
Knee Contracture ◽  
First Time ◽  
Dislocation Of The Hip ◽  
Knee Flexors

Results of a combination of soft tissue procedures performed for the first time in treating paralytic dislocation of the hip in cerebral palsy are presented. All hip flexors and adductors release, along with possible transposition or elongation of knee flexors on the side of the dislocation (if knee contracture exceeded 20) were performed. 75 hips in 57 patients were operated on. 54 patients were analyzed. The average age of the patients was 6.6 years, the average follow-up was 7 years. Excellent result was achieved in 33patients (61%), good in 10 (18,6%), fair in 4 (7,4%) poor in 7 patients (13%). Poor results were registered in patients over 10 years of age and in patients with athetosis. Results were assessed according to clinical finding, radiological finding (migrational percentage) and the ability of patients to walk. When based on radiological findings only, excellent results were achieved in 63 hips (84%). This combination of soft-tissue procedures which includes all muscles that take part in the dislocation proved to be very successful in achieving reposition. It can be recommended to patients suffering from the spastic form of cerebral palsy up to 10 years of age.

scholarly journals Long-term clinical outcomes and radiological findings and their correlation with each other after standard open discectomy for lumbar disc herniation

2015 ◽  
Vol 22 (2) ◽  
pp. 179-184 ◽  
Author(s):  
Il-Nam Son ◽  
Young-Hoon Kim ◽  
Kee-Yong Ha
Keyword(s):  
Back Pain ◽  
Clinical Outcomes ◽  
Radiological Finding ◽  
Leg Pain ◽  
Radiological Findings ◽  
Group 4 ◽  
Spinal Degeneration ◽  
Over Time ◽  
Group 1

OBJECT This retrospective study was designed to evaluate the clinical outcomes and radiological findings after open lumbar discectomy (OLD) in patients who were followed up for 10 years or longer. METHODS The authors classified 79 patients who had a mean age (± SD) of 53.6 ± 13.6 years (range 30–78 years) into 4 groups according to the length of their follow-up. Patients in Group 1 were followed up for 10–14 years, in Group 2 for 15–19 years, in Group 3 for 20–24 years, and in Group 4 for more than 25 years. In all of these patients, the clinical outcomes were assessed by using patients' self-reported scores on visual analog scales (VASs) measuring back and leg pain and by using scores from the Oswestry Disability Index (ODI). In addition, 10 radiological parameters suggesting degenerative changes or instability at the operated segment were recorded at various time points and used to calculate a numeric radiological finding (NRF) score by rating a presence for each finding of spinal degeneration or instability as 1. RESULTS The authors observed that OLD decreased pain and disability scores in all groups. Numeric radiological findings were highest in Group 4, and a significant correlation was detected between NRFs and VAS scores of back pain (p = 0.039). In this cohort, the reoperation rate was 13.9% during a mean follow-up period of 15.3 years. Clinical outcomes tended to be most favorable in Group 1, representing patients who had OLD most recently, and they tended to deteriorate in the other 3 groups, indicating some worsening of outcomes over time. Degeneration of the spine at the operated level measured with radiographic methods tended to increase over time, but some stabilization was observed. Although spinal degeneration was stable, clinical outcomes deteriorated over time. CONCLUSIONS This cross-sectional assessment of a retrospective cohort indicates that outcomes after OLD deteriorate over time. Increased back pain indicated a worsening of clinical outcomes, and this worsening was correlated with radiological findings of degeneration at the operated segment.

scholarly journals Intrasellar Arachnoid Cyst, a Rare Radiological Finding: Report of a Case.

2021 ◽  
Author(s):  
Alejandro Augusto Ortega Rodriguez ◽  
José Luís Caro Cardera ◽  
Jordi de Manuel-Rimbau Muñoz
Keyword(s):  
Cerebrospinal Fluid ◽  
Differential Diagnosis ◽  
Arachnoid Cyst ◽  
Radiological Finding ◽  
Arachnoid Cysts ◽  
Arachnoid Membrane ◽  
Radiological Findings ◽  
Sellar Lesions ◽  
Plausible Theory

Abstract Intrasellar arachnoid cysts are uncommon radiological findings, generally incidental and clinically silent. We present the case of 70 year-old female who was treated of meningitis due to cerebrospinal fluid nasal fistulae. She was diagnosed of intrasellar arachnoid cyst and managed conservatively because no neurologic, hormonal, symptomatic either CSF fistulae appeared during follow-up. The origin of intrasellar arachnoid cysts is unclear; although an incomplete diaphragma sellae through basal arachnoid membrane herniates may be a plausible theory. Conservative treatment is the usual option, but if hormonal, visual or intracranial hypertension symptoms appeared, surgery may be the best therapy. This entity should be in the differential diagnosis of cystic sellar lesions with other benign cysts and tumors as craniopharyngioma.

AAC Supports for Individuals With Rett Syndrome Across the Lifespan

2015 ◽  
Vol 24 (3) ◽  
pp. 74-85
Author(s):  
Sandra M. Grether
Keyword(s):  
Rett Syndrome ◽  
Communication Skills ◽  
Preliminary Analysis ◽  
Multidisciplinary Approach ◽  
Motor Deficits ◽  
Complex Profile ◽  
Communication Behaviors ◽  
The Individual

Individuals with Rett syndrome (RS) present with a complex profile. They benefit from a multidisciplinary approach for diagnosis, treatment, and follow-up. In our clinic, the Communication Matrix © (Rowland, 1990/1996/2004) is used to collect data about the communication skills and modalities used by those with RS across the lifespan. Preliminary analysis of this data supports the expected changes in communication behaviors as the individual with RS ages and motor deficits have a greater impact.

PRIMARY MELANOMA OF THE GALLBLADDER MANIFESTED BY ACUTE CHOLECYSTITIS. DESCRIPTION OF A SINGLE CASE

2018 ◽  
Vol 64 (2) ◽  
pp. 253-255
Author(s):  
Oleg Kit ◽  
Yevgeniy Kolesnikov ◽  
Roman Myagkov ◽  
Leonid Kharin ◽  
Yevgeniya Nepomnyashchaya
Keyword(s):  
Acute Cholecystitis ◽  
Mucous Membrane ◽  
Cutaneous Melanoma ◽  
Multidisciplinary Approach ◽  
Single Case ◽  
Primary Melanoma ◽  
Metastatic Lesions ◽  
Long Term Follow Up

Most of melanomas of the gallbladder are metastatic lesions of cutaneous melanoma. Primary melanomas of the gallbladder are described as single, polypoid, intraluminal masses emanating from the mucous membrane. The most important characteristic is the absence of melanoma damage to the skin. If it is not possible to localize primary melanoma a multidisciplinary approach to diagnostic search comes to the fore. Predicting for primary melanoma of the gallbladder is a difficult task due to the small number of cases and the absence of long-term follow-up for this category of patients.

scholarly journals Development of a potent embryonic chick lens model for studying congenital cataracts in vivo

2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Zhen Li ◽  
Sumin Gu ◽  
Yumeng Quan ◽  
Kulandaiappan Varadaraj ◽  
Jean X. Jiang
Keyword(s):  
Light Transmission ◽  
Genetic Diseases ◽  
Gene Mutations ◽  
Underlying Mechanism ◽  
Dominant Negative ◽  
Lens Model ◽  
Embryonic Chick ◽  
Congenital Cataracts ◽  
Chick Lens

AbstractCongenital cataracts are associated with gene mutations, yet the underlying mechanism remains largely unknown. Here we reported an embryonic chick lens model that closely recapitulates the process of cataract formation. We adopted dominant-negative site mutations that cause congenital cataracts, connexin, Cx50E48K, aquaporin 0, AQP0R33C, αA-crystallin, CRYAA R12C and R54C. The recombinant retroviruses containing these mutants were microinjected into the occlusive lumen of chick lenses at early embryonic development. Cx50E48K expression developed cataracts associated with disorganized nuclei and enlarged extracellular spaces. Expression of AQP0R33C resulted in cortical cataracts, enlarged extracellular spaces and distorted fiber cell organization. αA crystallin mutations distorted lens light transmission and increased crystalline protein aggregation. Together, retroviral expression of congenital mutant genes in embryonic chick lenses closely mimics characteristics of human congenital cataracts. This model will provide an effective, reliable in vivo system to investigate the development and underlying mechanism of cataracts and other genetic diseases.

Fourth Ventricle Outlet Obstruction and Diverticular Enlargement of Luschka Foramina in a Child with Down Syndrome

2020 ◽  
pp. 1-4
Author(s):  
Valentina Orlando ◽  
Pietro Spennato ◽  
Maria De Liso ◽  
Vincenzo Trischitta ◽  
Alessia Imperato ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Fourth Ventricle ◽  
Endoscopic Third Ventriculostomy ◽  
Obstructive Hydrocephalus ◽  
Radiological Finding ◽  
Outlet Obstruction ◽  
Third Ventriculostomy ◽  
Viable Option ◽  
Case Presentation

<b><i>Introduction:</i></b> Hydrocephalus is not usually part of Down syndrome (DS). Fourth ventricle outlet obstruction is a rare cause of obstructive hydrocephalus, difficult to diagnose, because tetraventricular dilatation may suggest a communicant/nonobstructive hydrocephalus. <b><i>Case Presentation:</i></b> We describe the case of a 6-year-old boy with obstructive tetraventricular hydrocephalus, caused by Luschka and Magen­die foramina obstruction and diverticular enlargement of Luschka foramina (the so-called fourth ventricle outlet obstruction) associated with DS. He was treated with endoscopic third ventriculostomy (ETV) without complications, and a follow-up MRI revealed reduction of the ventricles, disappearance of the diverticula, and patency of the ventriculostomy. <b><i>Conclusion:</i></b> Diverticular enlargement of Luschka foramina is an important radiological finding for obstructive tetraventricular hydrocephalus. ETV is a viable option in tetraventricular obstructive hydrocephalus in DS.

scholarly journals Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up

2021 ◽  
Vol 7 (2) ◽  
pp. 22
Author(s):  
Jamie Matteson ◽  
Stanley Sciortino ◽  
Lisa Feuchtbaum ◽  
Tracey Bishop ◽  
Richard S. Olney ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Program Implementation ◽  
Screening Program ◽  
Birth Prevalence ◽  
Variant Of Uncertain Significance ◽  
Implementation Challenges ◽  
Screening Programs ◽  
Uncertain Significance ◽  
Long Term Follow Up

X-linked adrenoleukodystrophy (ALD) is a recent addition to the Recommended Uniform Screening Panel, prompting many states to begin screening newborns for the disorder. We provide California’s experience with ALD newborn screening, highlighting the clinical and epidemiological outcomes observed as well as program implementation challenges. In this retrospective cohort study, we examine ALD newborn screening results and clinical outcomes for 1,854,631 newborns whose specimens were received by the California Genetic Disease Screening Program from 16 February 2016 through 15 February 2020. In the first four years of ALD newborn screening in California, 355 newborns screened positive for ALD, including 147 (41%) with an ABCD1 variant of uncertain significance (VUS) and 95 males diagnosed with ALD. After modifying cutoffs, we observed an ALD birth prevalence of 1 in 14,397 males. Long-term follow-up identified 14 males with signs of adrenal involvement. This study adds to a growing body of literature reporting on outcomes of newborn screening for ALD and offering a glimpse of what other large newborn screening programs can expect when adding ALD to their screening panel.

scholarly journals Retinoblastoma genetics screening and clinical management

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Himika Gupta ◽  
Sivasankar Malaichamy ◽  
Ashwin Mallipatna ◽  
Sakthivel Murugan ◽  
Nallathambi Jeyabalan ◽  
...  
Keyword(s):  
Clinical Management ◽  
Detection Rate ◽  
Mutation Detection ◽  
Gene Mutations ◽  
Disease Recurrence ◽  
Germline Mutations ◽  
Global Studies ◽  
Mutation Detection Rate ◽  
Gene Deletions

Abstract Background India accounts for 20% of the global retinoblastoma (RB) burden. However, the existing data on RB1 gene germline mutations and its influence on clinical decisions is minimally explored. Methods Fifty children with RB underwent complete clinical examination and appropriate multidisciplinary management. Screening of germline RB1 gene mutations was performed through next-generation sequencing and Multiplex Ligation-dependent Probe Amplification (MLPA) analysis. The mutation and non-mutation groups were compared for clinical parameters especially severity, progression and recurrence. Results Twenty-nine patients had bilateral RB (BLRB) and 21 had unilateral RB (ULRB). The genetic analysis revealed 20 RB1 variations in 29 probands, inclusive of 3 novel mutations, known 16 mutations and heterozygous whole gene deletions. The mutation detection rate (MDR) was 86.2% in BLRB and 19% in ULRB. Associations of disease recurrence (p = 0.021), progression (p = 0.000) and higher percentage of optic nerve invasion, subretinal seeds and high-risk pathological factors were observed in the mutation group. Clinical management was influenced by the presence of germline mutations, particularly while deciding on enucleation, frequency of periodic follow up and radiotherapy. Conclusions We identified novel RB1 mutations, and our mutation detection rate was on par with the previous global studies. In our study, genetic results influenced clinical management and we suggest that it should be an essential and integral component of RB-care in India and elsewhere.

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