scholarly journals Goldberg Shprintzen Syndrome: The Novel Association with Congenital Unilateral Anorchia (Monorchism)

2022 ◽  
Vol 10 (1) ◽  
pp. 01-04
Author(s):  
Aamir Jalal Al Mosawi

Background: Goldberg Shprintzen syndrome is a very rare autosomal recessive mental-growth retardation syndrome associated with characteristic facial dysmorphism, Hirschsprung disease, and a variety of neurological abnormalities, and abnormalities on brain imaging studies. However, the association of the syndrome with congenital unilateral absence of the testis (monorchism) has not been reported before. We have previously reported the thirty fourth and thirty fifth cases of the syndrome which occurred in Iraqi brothers, and described a novel therapeutic approach which was used to treat the younger brother. The aim of this paper is to report the novel association of Goldberg Shprintzen syndrome with congenital right monorchism. Patients and methods: T.A.S, the younger of two brothers with Goldberg Shprintzen syndrome was first seen at the age of four years and 10 months at the pediatric neuro-psychiatric clinic on the 29th of August, 2019. He had spastic right hemiparesis and was unable to walk alone, and was not saying any word and had characteristic facial features including hypertelorism, narrow palpebral fissures, open mouth, and laterally lifted ear. He also had neonatal intestinal obstruction which was attributed to Hirschsprung disease, and was treated surgically with resection and colostomy. The boy was treated successfully with novel therapeutic approach and experienced improvement in cognitive abilities, speech, and motor function, and after treatment was able to walk alone. Results: During July, 2021, the family reminded us that the child had single testis in the scrotum, and during early infancy an MRI study failed to find any second testis anywhere. An ultrasound was performed and showed normal left testis. However, the right testis could not found in the right hemi-scrotal sac nor with the right inguinal canal or within the abdomen. Thus, the ultrasound confirmed the earlier MRI findings which suggested congenital absence of the right testis (monorchism). Conclusion: This paper reported the novel association of Goldberg Shprintzen syndrome with monorchism, and this case represented the third case of congenital syndromic monorchism in the world.

1971 ◽  
Vol 177 (1046) ◽  
pp. 87-108 ◽  

Over the past decade our laboratory has worked intensively on the molecular details of RNA replication using the RNA bacteriophages as a model system. About a year and a half ago, I decided that the time had arrived for us to turn our accumulated technical armament on RNA replication to a problem of more immediate relevance and chose the RNA oncogenic viruses as the focus of our future efforts. I will begin by an account of certain of our earlier experiments that led us to hope that a novel therapeutic approach could be devised against RNA viruses. I will then conclude with some very recent developments that suggest we may have made the right decision in electing to work on the RNA oncogenic viruses, but possibly for the wrong reasons.


2019 ◽  
pp. 1-5

Abstract Background: There is no effective therapy for many neurological disorders associated with significant neurological damage such as kernicterus. Patients with Kernicterus (Chronic bilirubin encephalopathy) which is a neurological dysfunction resulting from exposure of the brain to severe hyperbilirubinemia mostly during the neonatal period continue to experience significant disability. There is no known therapeutic intervention that can obviously improve this condition. The aim of this paper is to describe a novel therapeutic approach which in two months produced marked improvement of the neurological dysfunction caused by kernicterus. Patients and methods: A girl with kernicterus were not speaking and not saying any word. She was lacking the balance (co-ordination) without obvious muscle weakness. She was unable to maintain the sitting posture on a chair for few minutes. She was unable to maintain straight standing posture when supported on chair at all. She had difficulty in holding things. The girl was treated with a novel therapeutic approach including two courses of intramuscular cerebrolysin and intramuscular citicoline. Results: After treatment the first month of treatment, speech development was initiated and she was saying few words. She was able to sit normally on the chair and maintaining the sitting posture indefinitely. She was able to maintain more straight stable standing posture without holding a chair and with the ability to hold things at the same time indicting improved coordination. She also developed improved ability to hold small things like a pen. After the second month of treatment, the girl was able to stand alone and was making few steps slowly holding furniture. After treatment the second course of treatment, the girl was able to stand alone and walk rapidly holding furniture. Treatment was not associated with any side effects. Conclusion: The novel use of intramuscular cerebrolysin and citicoline in a patient with kernicterus was safe and effective.


2007 ◽  
Vol 177 (4S) ◽  
pp. 121-121
Author(s):  
Luciano A. Favorito ◽  
Francisco J.B. Sampaio
Keyword(s):  

2010 ◽  
Vol 49 (05) ◽  
pp. N41-N43
Author(s):  
T. Winder ◽  
A. Schuster ◽  
A. Becherer ◽  
K. Gasser ◽  
A. De Vries ◽  
...  

1991 ◽  
Vol 30 (01) ◽  
pp. 35-39 ◽  
Author(s):  
H. S. Durak ◽  
M. Kitapgi ◽  
B. E. Caner ◽  
R. Senekowitsch ◽  
M. T. Ercan

Vitamin K4 was labelled with 99mTc with an efficiency higher than 97%. The compound was stable up to 24 h at room temperature, and its biodistribution in NMRI mice indicated its in vivo stability. Blood radioactivity levels were high over a wide range. 10% of the injected activity remained in blood after 24 h. Excretion was mostly via kidneys. Only the liver and kidneys concentrated appreciable amounts of radioactivity. Testis/soft tissue ratios were 1.4 and 1.57 at 6 and 24 h, respectively. Testis/blood ratios were lower than 1. In vitro studies with mouse blood indicated that 33.9 ±9.6% of the radioactivity was associated with RBCs; it was washed out almost completely with saline. Protein binding was 28.7 ±6.3% as determined by TCA precipitation. Blood clearance of 99mTc-l<4 in normal subjects showed a slow decrease of radioactivity, reaching a plateau after 16 h at 20% of the injected activity. In scintigraphic images in men the testes could be well visualized. The right/left testis ratio was 1.08 ±0.13. Testis/soft tissue and testis/blood activity ratios were highest at 3 h. These ratios were higher than those obtained with pertechnetate at 20 min post injection.99mTc-l<4 appears to be a promising radiopharmaceutical for the scintigraphic visualization of testes.


This research article focuses on the theme of violence and its representation by the characters of the novel “This Savage Song” by Victoria Schwab. How violence is transmitted through genes to next generations and to what extent socio- psycho factors are involved in it, has also been discussed. Similarly, in what manner violent events and deeds by the parents affect the psychology of children and how it inculcates aggressive behaviour in their minds has been studied. What role is played by the parents in grooming the personality of children and ultimately their decisions to choose the right or wrong way has been argued. In the light of the theory of Judith Harris, this research paper highlights all the phenomena involved: How the social hierarchy controls the behaviour. In addition, the aggressive approach of the people in their lives has been analyzed in the light of the study of second theorist Thomas W Blume. As the novel is a unique representation of supernatural characters, the monsters, which are the products of some cruel deeds, this research paper brings out different dimensions of human sufferings with respect to these supernatural beings. Moreover, the researcher also discusses that, in what manner the curse of violence creates an inevitable vicious cycle of cruel monsters that makes the life of the characters turbulent and miserable.


2019 ◽  
Vol 49 (2) ◽  
pp. 276-289
Author(s):  
Naoise Murphy

Feminist critics have celebrated Kate O'Brien's pioneering approach to gender and sexuality, yet there has been little exploration of her innovations of the coming-of-age narrative. Creating a modern Irish reworking of the Bildungsroman, O'Brien's heroines represent an idealized model of female identity-formation which stands in sharp contrast to the nationalist state's vision of Irish womanhood. Using Franco Moretti's theory of the Bildungsroman, a framing of the genre as a thoroughly ‘modern’ form of the novel, this article applies a critical Marxist lens to O'Brien's output. This reading brings to light the ways in which the limitations of the Bildungsroman work to constrain O'Brien's subversive politics. Their middle-class status remains an integral part of the identity of her heroines, informing the forms of liberation they seek. Fundamentally, O'Brien's idealization of aristocratic culture, elitist exceptionalism and ‘detachment of spirit’ restricts the emancipatory potential of her vision of Irish womanhood.


2017 ◽  
Author(s):  
Maximilian Bielohuby ◽  
Surya Prakash ◽  
Bodo Brunner ◽  
Anja Pfenninger ◽  
Ulrich Werner ◽  
...  

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