scholarly journals A Forkhead box G1 (FOXG1) gene mutation in an Indian patient with a congenital variant of Rett syndrome.

2020 ◽  
Vol 7 (8) ◽  
pp. 442-445
Author(s):  
Dr. Sai Chandar Dudipala ◽  
◽  
Dr. Naveen Reddy Cheruku ◽  
Dr. Krishna Chaithanya Battu ◽  
◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Frameshift Mutation ◽  
Global Developmental Delay ◽  
Separate Entity ◽  
Indian Patient ◽  
Forkhead Box ◽  
History Of ◽  
Foxg1 Syndrome ◽  
Congenital Variant ◽  
Atypical Variant

A congenital variant of rett syndrome or Forkhead box G1 (FOXG1) syndrome is a rareneurodevelopmental disorder characterized by global developmental delay, microcephaly, autisticfeatures, early-onset dyskinesia, and seizures. Once it was described as one atypical variant of rettsyndrome but now considered as a separate entity. The current study found one girl carrying the denovo c.500-501incG frameshift mutation in the FOXG1 gene by genetic analysis during theevaluation for severe chronic encephalopathy. In literature, only one case was reported from Indiawith FOXG1 mutation. The FOXG1 mutation should be considered in children with a history of globaldevelopmental delay, dyskinesia, and microcephaly with characteristic brain neuroimaging findings.

Novel mutation in Forkhead box G1 (FOXG1) gene in an Indian patient with Rett syndrome

Gene ◽  
2014 ◽  
Vol 538 (1) ◽  
pp. 109-112 ◽  
Author(s):  
Dhanjit Kumar Das ◽  
Vaishali Jadhav ◽  
Vikas C. Ghattargi ◽  
Vrajesh Udani
Keyword(s):  
Rett Syndrome ◽  
Novel Mutation ◽  
Indian Patient ◽  
Forkhead Box

What's the Message of Architecture?

2014 ◽  
pp. 126-136
Author(s):  
Аndrey G. Velikanov
Keyword(s):  
Separate Entity ◽  
Aesthetic Value ◽  
Current State ◽  
Entire Complex ◽  
History Of ◽  
The Aesthetic

Considers the aspects of architecture as a language able to express the current state and to prophetically indicate the upcoming changes. The aesthetic value of a construction cannot be perceived just as a separate entity, but it can be cognized in the context and not only a visual one, in space. It is necessary to see the entire complex of the accompanying phenomena, all the flow of the unfolding metaphors and values. In the model in view the figure of the author-creator must be reconsidered as no longer conforming to today's reality. The development of the Stalinist Empire style, as well as its transformations, is considered as one of the specific phenomena in the history of well-known constructions

scholarly journals Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene

2015 ◽  
Vol 28 (7-8) ◽  
Author(s):  
Jose Bernardo Quintos ◽  
Michael H. Guo ◽  
Andrew Dauber
Keyword(s):  
Short Stature ◽  
Adult Height ◽  
Frameshift Mutation ◽  
Index Case ◽  
Bone Age ◽  
Heterozygous Mutation ◽  
Maternal Grandfather ◽  
Whole Exome ◽  
Heterozygous Variant ◽  
History Of

AbstractRecently, whole exome sequencing identified heterozygous defects in the aggrecan (We report a novel frameshift mutation inWe present a 5 1/2-year-old male with a family history of short stature in three generations. The maternal grandfather stands 144.5 cm (Ht SDS –4.7), mother 147.7 cm (Ht SDS –2.6), and index case 99.2 cm (Ht SDS –2.7). Our prepubertal patient has significant bone age advancement (bone age 8 years at chronologic age 5 1/2 years) resulting in a poor predicted adult height of 142 cm (Ht SDS –5.1). DNA sequencing identified a novel heterozygous variant inMutations in the

14q12 Microdeletion syndrome and congenital variant of Rett syndrome

2009 ◽  
Vol 52 (2-3) ◽  
pp. 148-152 ◽  
Author(s):  
Maria Antonietta Mencarelli ◽  
Tjitske Kleefstra ◽  
Eleni Katzaki ◽  
Filomena Tiziana Papa ◽  
Monika Cohen ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Microdeletion Syndrome ◽  
Congenital Variant

scholarly journals Study of perinatal factors in children with developmental delay

2016 ◽  
Vol 4 (1) ◽  
pp. 182 ◽  
Author(s):  
Goli Sri Charan ◽  
Jayant Vagha
Keyword(s):  
Birth Weight ◽  
Developmental Delay ◽  
Gestational Age ◽  
Birth Asphyxia ◽  
Global Developmental Delay ◽  
Developmental Quotient ◽  
Birth History ◽  
History Of ◽  
Observational Descriptive Study ◽  
Birth Body Weight

Background: Birth history gives important information in children with developmental delay. Developmental challenge in children is an emerging problem across the globe, which is largely associated with improved neonatal survival. The present study highlights the importance of birth history in children with developmental delay in our hospital. The objective of this study was to study the perinatal events in children with developmental delay.Methods: Observational descriptive study was conducted on children between 6 months to 5 years who were admitted in Pediatric wards with suspected history of developmental delay. DDST II scale was performed on these children and children who failed on Denver II scale were recruited into the study. Birth history was noted in detail, if available, documentation of birth events was asked for and noted. Developmental history with developmental quotient (DQ), were noted in detail.Results: 135 children had developmental delay, 113 (83.70%) were born by vaginal delivery and 22 (16.30%) were born by caesarian section, 46 (34.18%) had no cry at birth and remaining 89 (65.92%) had normal cry at birth. 104 (77.04%) were born by term gestation and 31 (22.96%) were born preterm. Birth weight was normal in 78 (57.7%) children, LBW was seen 47 (34.81%) and 5 children each with VLBW and ELBW and 35 (25.93%) were IUGR. On comparing the children born gestational age and birth body weight with all four domains, there was no significant difference.Conclusions: Global developmental delay was more common in children born at preterm, low birth weight, IUGR and children who had birth asphyxia. Birth weight and gestational age did not significantly affect any particular domain of development. 

scholarly journals Școala română din Paris (Fontenay-aux-roses) – file semnificative din istoria unei instituții românești dispărută în negura timpului / Romanian School in Paris (Fontenay-aux-roses) – significant Pages in the History of a Romanian Institution that Disappeared in the Mists of Time

2021 ◽  
Vol 9 (1) ◽  
pp. 66-83
Author(s):  
Vasile-George Ursu
Keyword(s):  
First World War ◽  
Cultural Relations ◽  
Separate Entity ◽  
World War ◽  
European Continent ◽  
Private Initiative ◽  
The First World War ◽  
History Of ◽  
In The Mists ◽  
First World

The beginning of the twentieth century was strongly marked by the First World War. Among the unexpected results of this conflagration we can observe an exponential growth of cultural relations between the states involved in the conflict on the same side. If we explicitly look at the Romanian-French cultural relations from this perspective, it becomes obvious that we are dealing with an exceptional example of cultural collaboration on the European continent. The first concrete step of this process was the signing in Bucharest of The PoincaréAngelescu Educational Convention on June 15, 1919, a document according to which the French state provided its support for the consolidation of Romanian education, especially in the new provinces that entered the Romanian state. Thus, in Bucharest, the French university mission was created as a separate entity as a result of this convention. Later, in 1924, it was reorganized into the French Institute of Higher Studies. Through these two concrete actions, the French state took the initiative and offered its promised support for its ”Latin sister in Eastern Europe”. In the same period, the actions of the Kingdom of Romania in this sense were much slower and more indecisive, requiring a private initiative of the historian N. Iorga.

Intermittent Testicular Torsion

PEDIATRICS ◽  
1986 ◽  
Vol 77 (6) ◽  
pp. 908-911
Author(s):  
Thomas J. Stillwell ◽  
Stephen A. Kramer
Keyword(s):  
Primary Care Physicians ◽  
Testicular Torsion ◽  
Separate Entity ◽  
Scrotal Pain ◽  
Young Males ◽  
Testicular Pain ◽  
Acute Scrotal Pain ◽  
History Of ◽  
Scrotal Swelling ◽  
Physical Findings

Testicular torsion is the most common cause of acute scrotal pain in prepubertal and adolescent boys and should be foremost in the minds of primary care physicians evaluating these children. Intermittent testicular torsion is a separate entity that should be considered in all young males with a history of scrotal pain and swelling. Acute and intermittent sharp testicular pain and scrotal swelling, interspersed with long intervals without symptoms, are characteristic. Physical findings may include horizontal or very mobile testes, an anteriorly located epididymis, or bulkiness of the spermatic cord from partial twisting. Awareness of this entity and early elective orchiopexy will improve testicular salvage in patients with intermittent testicular torsion.

scholarly journals Rett Syndrome in Males: The Different Clinical Course in Two Brothers with the Same Microduplication MECP2 Xq28

2019 ◽  
Vol 16 (17) ◽  
pp. 3075
Author(s):  
Maria Bernarda Pitzianti ◽  
Angelo Santamaria Palombo ◽  
Susanna Esposito ◽  
Augusto Pasini
Keyword(s):  
Rett Syndrome ◽  
Genetic Basis ◽  
Normal Development ◽  
Clinical Course ◽  
Neurodevelopmental Disorder ◽  
Dominant Inheritance ◽  
Clinical Form ◽  
Inactivation Pattern ◽  
History Of

Rett syndrome (RTT) is a neurodevelopmental disorder with a genetic basis that is associated with the mutation of the X-linked methyl-CpG binding protein 2 (MECP2) gene in approximately 90% of patients. RTT is characterized by a brief period of normal development followed by loss of acquired skills and evolution towards impairment of brain and motor functions and multi-organ dysfunction. Originally, RTT was considered lethal in males as it has an X-linked dominant inheritance. However, although this syndrome has a higher incidence in females, rare cases are also documented in males. Here, we describe the case of an 11-year-old male patient with a microduplication MECP2 Xq28. Our patient is currently living, while his older brother with the same mutation died at the age of 9 years. We showed that the role of MECP2 as an epigenetic modulator and the X-chromosome inactivation pattern can explain the lethal clinical form of the older brother with the same microduplication MECP2 Xq28 presented by our patient who is still alive. Given the limited case history of RTT in males, further studies are needed to better characterize this syndrome in males and consequently improve the currently available therapeutic strategies.

Unipolar vs. Bipolar Mania: A Review of 247 Patients

1982 ◽  
Vol 141 (5) ◽  
pp. 453-458 ◽  
Author(s):  
Bruce Pfohl ◽  
Ned Vasquez ◽  
Henry Nasrallan
Keyword(s):  
Bipolar Disorder ◽  
Family History ◽  
Chart Review ◽  
Manic Episode ◽  
Unipolar Depression ◽  
Separate Entity ◽  
University Of Iowa ◽  
History Of ◽  
Bipolar Mania ◽  
The University

SummaryPrevious studies attempting to support unipolar mania as an entity distinct from bipolar disorder, have produced conflicting results. The present study reports on a chart review of 247 patients admitted to the University of Iowa with a history of at least one manic episode; 87 of these had apparently never experienced a depression. A subgroup of 92 patients, who met DSM III diagnostic criteria and had a history of at least two episodes of affective disorder, were also examined. There were few clinically meaningful differences between patients with unipolar mania and bipolar disorder on demographic, symptomatic, or familial variables. An earlier report that unipolar manics were more likely to be male and have a family history of unipolar depression was not confirmed. Unipolar mania is not supported as a separate entity from bipolar disorder.

Recurrent Dystonic Crisis and Rhabdomyolysis Treated with Dantrolene in Two Patients with Aromatic L-Amino Acid Decarboxylase Deficiency

2020 ◽  
Vol 51 (03) ◽  
pp. 229-232
Author(s):  
J. Micallef ◽  
S. Stockler-Ipsiroglu ◽  
C.D. van Karnebeek ◽  
R. Salvarinova-Zivkovic ◽  
G. Horvath
Keyword(s):  
Amino Acid ◽  
Inborn Error ◽  
Autosomal Recessive ◽  
Global Developmental Delay ◽  
Acid Decarboxylase ◽  
First Year ◽  
Amino Acid Decarboxylase ◽  
History Of ◽  
First Year Of Life ◽  
Decarboxylase Deficiency

AbstractAromatic L-amino acid decarboxylase (AADC) deficiency is a rare, autosomal recessive inborn error of metabolism in which several neurotransmitters including serotonin, dopamine, norepinephrine and epinephrine are deficient. Symptoms typically appear in the first year of life and include oculogyric crises and dystonia, hypotonia, and global developmental delay. Dystonia is of particular concern as a dystonic storm can ensue leading to rhabdomyolysis. Rhabdomyolysis can become life-threating and therefore its recognition and prompt management is of significant importance. Here we present two cases of patients with AADC deficiency and a history of dystonic crisis causing rhabdomyolysis. We hypothesize that in addition to the hypodopaminergic, a hypercholinergic state is contributing to the pathophysiology of dystonia in AADC deficiency, as well as to the associated rhabdomyolysis. We were able to prevent rhabdomyolysis in both patients with using Dantrolene and we suggest using a trial of this medication in cases of sustained dystonic crisis in AADC deficiency patients.

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