Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B

2019 ◽  
Vol 41 (1) ◽  
pp. 265-276
Author(s):  
Adrián Palencia‐Campos ◽  
María‐Luisa Martínez‐Fernández ◽  
Umut Altunoglu ◽  
Patricia Soto‐Bielicka ◽  
Antonio Torres ◽  
...  
Keyword(s):  
Common Finding ◽  
Postaxial Polydactyly ◽  
Pathogenic Variants

Two novel compound heterozygous SAG mutations in an Italian patient with Oguchi disease: A genetic and multimodal retinal imaging study

2021 ◽  
pp. 112067212110274
Author(s):  
Elisabetta Pilotto ◽  
Eva Trevisson ◽  
Elisabetta Beatrice Nacci ◽  
Evelyn Longhin ◽  
Francesca Guidolin ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Retinal Dystrophy ◽  
Retinal Imaging ◽  
Light Condition ◽  
Imaging Study ◽  
Common Finding ◽  
Compound Heterozygous ◽  
Italian Patient ◽  
Pathogenic Variants ◽  
Oguchi Disease

Background: Oguchi disease is a rare autosomal recessive retinal dystrophy, characterized by congenital stationary blindness and caused by pathogenic variants in SAG and GRK1 genes. The present study aimed to report an Italian patient affected by Oguchi disease, evaluated by means of a multimodal retinal imaging study and harboring two novel heterozygous pathogenic variants in the SAG gene. Materials and methods: A 60-year-old female complaining congenital stationary night blindness was investigated through fundus photograph, optical coherence tomography (OCT), electroretinography (ERG), and genetic testing. Results: Fundus examination showed a golden-grayish fundus aspect. The rod response of the scotopic ERG was undetectable and mixed rod-cone response was electronegative. Fundus photographs obtained in light and in prolonged dark-adapted conditions allowed to detect the Mizuo-Nakamura phenomenon. Light condition OCT over the abnormal retinal regions showed high-intensity areas in the outer photoreceptor segment layer, that reduced with prolonged dark adaption. Genetic testing identified two rare heterozygous sequence variants in the SAG gene: NM_000541.5:c.807delA p.(Glu270Lysfs*9) and NM_000541.5:c.1047-1G>C confirming the diagnosis of Oguchi disease. Conclusions: We identified the first Italian compound heterozygous patient harboring two novel alterations in the SAG gene (a frameshift deletion and a splicing variant). The involvement of the SAG gene in Oguchi disease is a common finding in Japanese population, but rarely identified in Caucasians. Clinical suspicion should prompt the molecular analysis of genes associated with this condition.

Partial hypopituitarism: a common finding after traumatic brain injury

2003 ◽  
Vol 111 (06) ◽  
Author(s):  
HJ Schneider ◽  
M Schneider ◽  
F von Rosen ◽  
M Uhr ◽  
B Saller ◽  
...  
Keyword(s):  
Traumatic Brain Injury ◽  
Brain Injury ◽  
Common Finding

TO FIND OUT ELECTRO-CARDIOGRAPHIC CHANGES & ECHO CHANGES IN ALUMINIUM PHOSPHIDE AND ETHYLENE DIBROMIDE POISONING

2020 ◽  
Vol 4 (10) ◽  
Author(s):  
Hemant Nargawe ◽  
Sumeet Sisodiya
Keyword(s):  
Biochemical Analysis ◽  
Histopathological Examination ◽  
Common Finding ◽  
Histopathological Changes ◽  
Ethylene Dibromide ◽  
Medical College ◽  
Aluminium Phosphide ◽  
Urine Examination ◽  
Cardiovascular Involvement ◽  
Careful Clinical Examination

Background & Method: The study was conducted in the Department of Medicine Shyam Shah Medical College and Associated Sanjay Gandhi Memorial Hospital, Rewa (M.P). History was followed by a careful clinical examination i.e. cardiovascular, respiratory and gastrointestinal and nervous system. Investigations had done included routine haematological examination, Biochemical analysis, urine examination, ECG, 2 D. Echo & Histopathological examination was done. Result: ST-T changes were most common finding in Aluminium phosphide poisoning in relation to mortality. However hyperkalemia was the most ominous finding associated with 100% mortality, ECG finding in EDB was normal ECG. The most ominous finding was arrhythmia which was associated with 100% mortality. Survivors of ethylene dibromide poisoning echocardiography was normal in 11 (84.61%) followed by pericardial effusion in 2 (15.38%) patients. Conclusion: Noteworthy finding was absence of correlation between cardiovascular involvement, histopathological changes and ECG findings. It was seen that even if ECG showed normal pattern there were significant histopathological changes in heart. Keywords: electro-cardiographic, Aluminium phosphide, ethylene dibromide & poisoning.

Point of Care Neurosonogram in Neonates - Utility and Prognostic Value

2019 ◽  
Vol 2 ◽  
pp. 1
Author(s):  
Bhushita Lakhkar ◽  
M. M. Patil ◽  
Bhavana Lakhkar ◽  
Bhushan Lakhkar
Keyword(s):  
Neonatal Intensive Care ◽  
Point Of Care ◽  
Color Doppler ◽  
Periventricular Leukomalacia ◽  
Birth Asphyxia ◽  
Common Finding ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Doppler Study

Objective The study aimed to utilize the neurosonographic findings in neonates in early diagnosis, prediction of their long-term outcome, parental counseling, and early intervention. Methods The study was carried out in neonatal intensive care unit (NICU) of Shri BM Patil Medical College and Hospital. All preterms and term babies with neurological clinical findings were included in the study. Neurosonogram was done within first 7 days in preterms and when indicated in terms. Philips HD11XE ultrasound and color Doppler unit were used with a small footprint probe. Color Doppler images for vessels were performed for screening of vascular changes. Results A total of 215 babies were included, of which 80 (32%) were term and the rest were preterm. Mean weight of term babies was 2.8 kg and that of preterm was 1.2 kg.Among term babies, 78% showed ultrasound abnormality, and among preterm, 42%showed abnormalities. Among term babies, 60% and, among preterms, 30% had birth asphyxia. Periventricular leukomalacia was the most common and earliest finding followed by thalamic hyperechogenicity and intracranial hemorrhage. Intraventricular hemorrhage was more common in preterm babies. Other common finding in NICU was meningitis which was more common in pretrms. Among congenital anomalies, corpus callosal agenesis was more common. Conclusions Point of care ultrasonography along with Doppler study is very useful and safe to use in NICUs. It helps in diagnosis, patient management as well as prediction of many short- and long-term outcomes.

Declining Detection Rates for APC and Biallelic MUTYH Pathogenic Variants in Polyposis Patients, Implications for DNA Testing Policy

2019 ◽  
Author(s):  
Diantha Terlouw ◽  
Manon Suerink ◽  
Sunny Singh ◽  
J. T. van Wezel ◽  
J. J. P. Gille ◽  
...  
Keyword(s):  
Dna Testing ◽  
Detection Rates ◽  
Pathogenic Variants

scholarly journals Sustained Opening of the Blood-Brain Barrier with Progressive Accumulation of White Matter Hyperintensities Following Ischemic Stroke

2019 ◽  
Vol 9 (1) ◽  
pp. 16 ◽  
Author(s):  
Imama Naqvi ◽  
Emi Hitomi ◽  
Richard Leigh
Keyword(s):  
Ischemic Stroke ◽  
White Matter ◽  
Acute Stroke ◽  
Blood Brain Barrier ◽  
White Matter Hyperintensities ◽  
Brain Barrier ◽  
Common Finding ◽  
Blood Brain ◽  
History Of ◽  
Iv Tpa

Objective: To report a patient in whom an acute ischemic stroke precipitated chronic blood-brain barrier (BBB) disruption and expansion of vascular white matter hyperintensities (WMH) into regions of normal appearing white matter (NAWM) during the following year. Background: WMH are a common finding in patients with vascular risk factors such as a history of stroke. The pathophysiology of WMH is not fully understood; however, there is growing evidence to suggest that the development of WMH may be preceded by the BBB disruption in the NAWM. Methods: We studied a patient enrolled in the National Institutes of Health Natural History of Stroke Study who was scanned with magnetic resonance imaging (MRI) after presenting to the emergency room with an acute stroke. After a treatment with IV tPA, she underwent further MRI scanning at 2 h, 24 h, 5 days, 30 days, 90 days, 6 months, and 1-year post stroke. BBB permeability images were generated from the perfusion weighted imaging (PWI) source images. MRIs from each time point were co-registered to track changes in BBB disruption and WMH over time. Results: An 84-year-old woman presented after acute onset right hemiparesis, right-sided numbness and aphasia with an initial NIHSS of 13. MRI showed diffusion restriction in the left frontal lobe and decreased blood flow on perfusion imaging. Fluid attenuated inversion recovery (FLAIR) imaging showed bilateral confluent WMH involving the deep white matter and periventricular regions. She was treated with IV tPA without complication and her NIHSS improved initially to 3 and ultimately to 0. Permeability maps identified multiple regions of chronic BBB disruption remote from the acute stroke, predominantly spanning the junction of WMH and NAWM. The severity of BBB disruption was greatest at 24 h after the stroke but persisted on subsequent MRI scans. Progression of WMH into NAWM over the year of observation was detected bilaterally but was most dramatic in the regions adjacent to the initial stroke. Conclusions: WMH-associated BBB disruption may be exacerbated by an acute stroke, even in the contralateral hemisphere, and can persist for months after the initial event. Transformation of NAWM to WMH may be evident in areas of BBB disruption within a year after the stroke. Further studies are needed to investigate the relationship between chronic BBB disruption and progressive WMH in patients with a history of cerebrovascular disease and the potential for acute stroke to trigger or exacerbate the process leading to the development of WMH.

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