scholarly journals Sibling Screening of a Case of Pyroglutamic Aciduria Resulting in Normal Development- A Case Report

Author(s):  
Nalini Bhaskaranand ◽  
Saritha U Kamath
2016 ◽  
Vol 33 (S1) ◽  
pp. S154-S154
Author(s):  
E. Garcia ◽  
I. Vicente ◽  
R. Martínez

We comment the case of a 12 years old girl who started with visual and auditive hallucinations. Hallucinations are not a common symptom between children. They may also be linked to many conditions, some of them with poor outcome as schizophrenia. Symptoms appeared in a short time, after a previous normal development. She talked about a man who followed her and that was always behind, she also had heard some insults of undeterminated voices. These symptoms were just of one-month duration and made her feel anxious and very afraid. After a normal organical study and a first proposal of medication they asked for our consultation. We found that the patient was alone at home every afternoon. Family, from other country, hadn’t any social support, and the father had had to travel away some days before the child began to suffer hallucinations. Suspecting an affective disorder as the basis of anxious symptoms, and hallucinations as a cultural presentation of them, we started with a social intervention mixed with support therapy. After some sessions the patient could talk about her loneliness and fears, disappearing the other symptoms. We will resume this case and literature about other cultural presentations that may difficult diagnosis or treatment.Disclosure of interestThe authors have not supplied their declaration of competing interest.


2020 ◽  
pp. 014556132094463
Author(s):  
Huiying Sun ◽  
Yufei Qiao ◽  
Na Chen ◽  
Hua Yang ◽  
Zhiqiang Gao ◽  
...  

We report a 6-year-old girl with progressive bilateral conductive hearing loss for 2 years. She passed the newborn hearing screening conducted with otoacoustic emissions testing and had a normal development of speech and language, which indicated that her deafness was delayed-onset. She also had congenital proximal interphalangeal joints. Proximal symphalangism was confirmed by genetic testing ( NOG gene: c.406C > T, p.R136C). Bilateral stapes ankyloses were proved by surgery and her hearing was improved after stapedotomy by over 30 dB. Besides, this case should remind clinicians to carefully distinguish NOG gene-related deafness from congenital ossicular malformation and pediatric otosclerosis.


1961 ◽  
Vol 107 (450) ◽  
pp. 931-935 ◽  
Author(s):  
John Johnson

The first clinical histories of this condition were reported in Norway by Stengel (1826). Batten (1903) described changes in the macula in two members of a family who had undergone progressive mental deterioration with loss of visual and motor functions. Vogt (1906) published similar cases and attempted to delimit them as a juvenile form of Tay Sachs disease. It differed from the infantile form in that it occurred in childhood after a period of normal development; the rate of progression was slower; it was not limited to Jewish children and the ophthalmological appearances were those of optic atrophy. The following year Spielmeyer described the pathological changes in juvenile Tay Sachs disease as essentially similar to the infantile form. Further detailed pathological studies were made by Greenfield and Holmes (1925).


Author(s):  
Sunil K. Juneja ◽  
Pooja Tandon ◽  
Shirin Garg

Arthrogryposis Multiplex Congenita is a syndrome or disorder that presents with multiple congenital joint contractures at birth. It is X-linked recessive disorder, non-progressive and is of variable severity. Here is a case report with three consecutive pregnancies having fetus affected with Arthrogryposis Multiplex Congenita (AMC) diagnosed antenatally. Arthrogryposis Multiplex Congenita affects 1 in 3000 live births. During embryogenesis, joint development is normal. Motion is essential for the normal development of joints and surrounding structures. Fetal akinesia causes extra connective tissue to develop around the joint. This results in fixation of the joint and a further increase in the contracture. Earlier in pregnancy the contractures form, worse is the prognosis.


2020 ◽  
Vol 26 (2) ◽  
pp. 9
Author(s):  
Fábia Fernanda Cardoso de Barros da Conceição ◽  
Laís Laís Maria Viana ◽  
Franciele De Sá Alves ◽  
Marina Resgala Neves ◽  
Adriana De Souza Coutinho ◽  
...  

Prepubic tendon rupture may lead to the loss of pelvic floorsupport. A four-year-old Santa Inês ewe had been reported suffering fromapathy, progressive weight loss throughout ten days, and prolongedpregnancy. Physical exams showed an excessive pendulous abdomen, amild ventral edema between the udder and the umbilical scar (xiphoidregion). Also, the udder was cranially displaced and with hematomas.Other symptoms noticed were walking reluctance, pelvic asymmetry,tachycardia, and tachypnea. The urinalysis findings indicated the presenceof ketone bodies. The ultrasound examination confirmed the presence offetuses with normal development, and a potential rupture of theabdominal muscles was excluded. Eight days following its hospitalization,labor induction was carried out using dexamethasone (20mg, IM, singleapplication). She went into labor three days after the initial dose ofcorticosteroid. The ewe had difficulty expelling the lambs, making theirtraction necessary. Although the animal has recovered from its injuries,the clinical picture shows prepubic tendon rupture, and in order to preventfuture complications, the ewe is not going to breed anymore. The report ofthis case works as an alert to the possibility of the occurrence of thisaffection in ewes and demonstrates the need of parturition assistance inanimals with this condition, which can be diagnosed through clinicalevaluation and ultrasound examination.


2012 ◽  
Vol 38 (4) ◽  
pp. 741-744 ◽  
Author(s):  
Masatoki Kaneko ◽  
Yasuyuki Kawagoe ◽  
Junji Oonishi ◽  
Naoshi Yamada ◽  
Hiroshi Sameshima ◽  
...  

Author(s):  
Michael T. Postek

Silicon occurs naturally in plants in the form of its hydrated oxide (SiO2.nH2O) commonly called silica. Silica has been shown to be a necessary element in the normal development of many plants, playing an array of roles including strengthening, protection, and reduction of water loss. Deposition of silica in various portions of the plant body, especially the leaves, may also be viewed as a way for the plant to dispose of any excess silica taken up beyond that necessary for normal metabolism.Studies of this “opaline” silica have thus far been limited to species of the Cyperaceae and Gramineae known to possess significant quantities of silica. Within the Magnoliaceae, certain “glistening” idioblast cells at the foliar veinlet termini and vein sheaths of Magnolia grandiflora (1) have been suspected to be siliceous in nature.


Author(s):  
Thomas T.F. Huang ◽  
Patricia G. Calarco

The stage specific appearance of a retravirus, termed the Intracisternal A particle (IAP) is a normal feature of early preimplantation development. To date, all feral and laboratory strains of Mus musculus and even Asian species such as Mus cervicolor and Mus pahari express the particles during the 2-8 cell stages. IAP form by budding into the endoplasmic reticulum and appear singly or as groups of donut-shaped particles within the cisternae (fig. 1). IAP are also produced in large numbers in several neoplastic cells such as certain plasmacytomas and rhabdomyosarcomas. The role of IAP, either in normal development or in neoplastic behavior, is unknown.


1994 ◽  
Vol 3 (1) ◽  
pp. 79-88 ◽  
Author(s):  
Theresa A. Kouri

Lexical comprehension skills were examined in 20 young children (aged 28–45 months) with developmental delays (DD) and 20 children (aged 19–34 months) with normal development (ND). Each was assigned to either a story-like script condition or a simple ostensive labeling condition in which the names of three novel object and action items were presented over two experimental sessions. During the experimental sessions, receptive knowledge of the lexical items was assessed through a series of target and generalization probes. Results indicated that all children, irrespective of group status, acquired more lexical concepts in the ostensive labeling condition than in the story narrative condition. Overall, both groups acquired more object than action words, although subjects with ND comprehended more action words than subjects with DD. More target than generalization items were also comprehended by both groups. It is concluded that young children’s comprehension of new lexical concepts is facilitated more by a context in which simple ostensive labels accompany the presentation of specific objects and actions than one in which objects and actions are surrounded by thematic and event-related information. Various clinical applications focusing on the lexical training of young children with DD are discussed.


2020 ◽  
Vol 29 (4) ◽  
pp. 685-690
Author(s):  
C. S. Vanaja ◽  
Miriam Soni Abigail

Purpose Misophonia is a sound tolerance disorder condition in certain sounds that trigger intense emotional or physiological responses. While some persons may experience misophonia, a few patients suffer from misophonia. However, there is a dearth of literature on audiological assessment and management of persons with misophonia. The purpose of this report is to discuss the assessment of misophonia and highlight the management option that helped a patient with misophonia. Method A case study of a 26-year-old woman with the complaint of decreased tolerance to specific sounds affecting quality of life is reported. Audiological assessment differentiated misophonia from hyperacusis. Management included retraining counseling as well as desensitization and habituation therapy based on the principles described by P. J. Jastreboff and Jastreboff (2014). A misophonia questionnaire was administered at regular intervals to monitor the effectiveness of therapy. Results A detailed case history and audiological evaluations including pure-tone audiogram and Johnson Hyperacusis Index revealed the presence of misophonia. The patient benefitted from intervention, and the scores of the misophonia questionnaire indicated a decrease in the severity of the problem. Conclusions It is important to differentially diagnose misophonia and hyperacusis in persons with sound tolerance disorders. Retraining counseling as well as desensitization and habituation therapy can help patients who suffer from misophonia.


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