Clinical Manifestations, Management, and Natural Course of Infants with Recurrent Bronchiolitis or Reactive Airways Disease

2014 ◽  
Vol 21 (1) ◽  
pp. 37 ◽  
Author(s):  
Hyoun Jin Park ◽  
Joo Hyun Kim ◽  
Yoon Hong Chun ◽  
Soo Young Lee ◽  
Sang Yong Kim ◽  
...  
Keyword(s):  
Clinical Manifestations ◽  
Natural Course ◽  
Reactive Airways

scholarly journals FOOD ANAPHYLAXIS IN CHILDREN: RETROSPECTIVE ANALYSIS OF 53 CASES

2013 ◽  
Vol 10 (5) ◽  
pp. 22-26
Author(s):  
N V Esakova ◽  
A N Pampura
Keyword(s):  
Retrospective Analysis ◽  
Russian Federation ◽  
Clinical Manifestations ◽  
Allergic Diseases ◽  
Natural Course ◽  
Cow’S Milk ◽  
Topical Issue ◽  
Common Cause ◽  
Cow's Milk ◽  
Food Anaphylaxis

Introduction. There are no studies on anaphylaxis in children in Russian Federation therefore this problem is a topical issue. Background. To determine the etiology, natural course of food anaphylaxis in Russian Federation children, to analyse the therapeutic care of anaphylaxis. Methods. 53 patients with food anaphylaxis were included in the study. All patients completed a questionnaire included questions about the triggers, clinical manifestations and treatment of anaphylaxis. Results. In 94% episodes of anaphylactic reactions occurred at home, 2/3 (66%) of patients had two or more episodes of food anaphylaxis before, 5 (8%) infants didn’t have allergic diseases, 23 patients (43%) had anaphylactic reactions to more than one product. Cow’s milk (43%) was the most common cause of anaphylaxis. Cow’s milk caused anaphylaxis in 67% of children under 2 years (p

scholarly journals A review of recent developments in retinitis pigmentosa genetics, its clinical features, and natural course

2021 ◽  
Vol 9 (4) ◽  
Author(s):  
Eleftherios Loukovitis ◽  
Stoimeni Anastasia ◽  
Paris Tranos ◽  
Miltos Balidis ◽  
Solon Asteriadis ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Clinical Features ◽  
English Language ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Usher Syndrome ◽  
Retinal Dystrophy ◽  
Clinical Manifestations ◽  
Natural Course ◽  
Recent Developments

Background: Retinitis pigmentosa (RP), an inherited degenerative ocular disease, is considered the most common type of retinal dystrophy. Abnormalities of the photoreceptors, particularly the rods, and of the retinal pigment epithelium, characterizes this disease. The abnormalities progress from the midperiphery to the central retina. We here reviewed the developments in RP genetics in the last decade, along with its clinical features and natural course. Methods: The present review focused on articles in English language published between January 2008 and February 2020, and deposited in PubMed and Google Scholar databases. We searched for articles reporting on the clinical manifestations and genes related to both syndromic and non-syndromic RP. We screened and analyzed 139 articles, published in the last decade, referring to RP pathogenesis and identified, summarized, and highlighted the most significant genes implicated in either syndromic or non-syndromic RP pathogenesis, causing different clinical manifestations. Results: Recent literature revealed that approximately 80 genes are implicated in non-syndromic RP, and 30 genes in syndromic forms, such as Usher syndrome and Bardet‒Biedl syndrome (BBS). Moreover, it is estimated that 27 genes are implicated in autosomal dominant RP (adRP), 55 genes in autosomal recessive RP (arRP), and 6 genes in X-linked RP (xlRP), causing different RP phenotypes. Characteristically, RHO is the most prevalent adRP- and arRP-causing gene, and RPGR the most common xlRP-causing gene. Other important genes are PRPH2, RP1, CRX, RPE65, ABCA4, CRB1, and USH2Α. However, different phenotypes can also be caused by mutations in the same gene. Conclusions: The genetic heterogeneity of RP necessitates further study to map the exact mutations that cause more severe forms of RP, and to develop and use appropriate genetic or other effective therapies in future.

scholarly journals A case of atopic dermatitis with a severe resistant course in adult patient with atopic march

2020 ◽  
Vol 17 (2) ◽  
pp. 69-73
Author(s):  
Galiya M. Tusupbekova ◽  
Aigul A. Syzdykova ◽  
Botagoz M. Davletova
Keyword(s):  
Atopic Dermatitis ◽  
Adult Patient ◽  
Clinical Symptoms ◽  
Clinical Manifestations ◽  
Allergic Diseases ◽  
Atopic Disease ◽  
Significant Others ◽  
Natural Course ◽  
Atopic March ◽  
Typical Sequence

Introduction. The atopic march is the natural course of development of atopy symptoms. It is characterized by a typical sequence of development of clinical symptoms of atopic disease, when some symptoms become more significant, others are recede. Timely allergological diagnostics with the identification of causal allergens allows to preventor suspend the atopic march. Purpose of the study was to demonstrate the stages of the atopic march formation and clinical manifestations of atopy, the importance of on timely detection of causal allergens, the capability of modern diagnostics and treatment of severe resistant forms of allergic diseases.

Description of the natural course and clinical manifestations of ichthyosis with confetti caused by a novel KRT10 mutation

2011 ◽  
Vol 166 (2) ◽  
pp. 434-439 ◽  
Author(s):  
B. Burger ◽  
I. Spoerri ◽  
M. Schubert ◽  
C. Has ◽  
P.H. Itin
Keyword(s):  
Clinical Manifestations ◽  
Natural Course

Morphologic alteration in the muscles of patients with hypokalemic periodic paralysis or myopathy

1990 ◽  
Vol 48 (3) ◽  
pp. 222-223
Author(s):  
T. Shimizu ◽  
Y. Muranaka ◽  
I. Ohta ◽  
N. Honda
Keyword(s):  
Clinical Manifestations ◽  
Quadriceps Muscle ◽  
Honeycomb Structure ◽  
Periodic Paralysis ◽  
Ultrastructural Changes ◽  
Hypokalemic Periodic Paralysis ◽  
Electron Microscopic ◽  
Tubular Aggregates ◽  
Hypokalemic Myopathy ◽  
Transmission Electron

There have been many reports on ultrastructural alterations in muscles of hypokalemic periodic paralysis (hpp) and hypokalemic myopathy(hm). It is stressed in those reports that tubular structures such as tubular aggregates are usually to be found in hpp as a characteristic feature, but not in hm. We analyzed the histological differences between hpp and hm, comparing their clinical manifestations and morphologic changes in muscles. Materials analyzed were biopsied muscles from 18 patients which showed muscular symptoms due to hypokalemia. The muscle specimens were obtained by means of biopsy from quadriceps muscle and fixed with 2% glutaraldehyde (pH 7.4) and analyzed by ordinary method and modified Golgimethod. The ultrathin section were examined in JEOL 200CX transmission electron microscopy.Electron microscopic examinations disclosed dilated t-system and terminal cistern of sarcoplasmic reticulum (SR)(Fig 1), and an unique structure like “sixad” was occasionally observed in some specimens (Fig 2). Tubular aggregates (Fig 3) and honeycomb structure (Fig 4) were also common characteristic structures in all cases. These ultrastructural changes were common in both the hypokalemic periodic paralysis and the hypokalemic myopathy, regardless of the time of biopsy or the duration of hypokalemia suffered.

Nutritional B12 Deficiency in Infants of Vitamin B12-Deficient Mothers

2011 ◽  
Vol 81 (5) ◽  
pp. 328-334 ◽  
Author(s):  
Oya Halicioglu ◽  
Sezin Asik Akman ◽  
Sumer Sutcuoglu ◽  
Berna Atabay ◽  
Meral Turker ◽  
...  
Keyword(s):  
Megaloblastic Anemia ◽  
Maternal Diet ◽  
Clinical Manifestations ◽  
Serum Vitamin ◽  
Failure To Thrive ◽  
Clinical Findings ◽  
Vitamin B ◽  
Animal Products ◽  
Hematological Evaluation ◽  
Nutritional Vitamin

Aim: Nutritional vitamin B12 deficiency in infants may occur because the maternal diet contains inadequate animal products. Clinical presentations of the infants who had nutritional vitamin B12 deficiency were analyzed in this study. Subjects and Methods: Patients with nutritional vitamin B12 deficiency were enrolled in the study between 2003 and 2010. The diagnosis was based on a nutritional history of mothers and infants, clinical findings, hematological evaluation, and low level of serum vitamin B12. Results: Thirty children aged 1 - 21 months constituted the study group. Poverty was the main cause of inadequate consumption of animal products of the mothers. All infants had predominantly breastfed. The most common symptoms were developmental delay, paleness, apathy, lethargy, anorexia, and failure to thrive. Hematological findings were megaloblastic anemia (83.3 %), thrombocytopenia (30 %), and severe anemia (13.3 %). All of the mothers had low serum B12 levels; eight of them had megaloblastic anemia. Conclusion: The unusual clinical manifestations of vitamin B12 deficiency may also be seen apart from neurological and hematological findings. Nutritional vitamin B12 deficiency due to maternal deficiency might be a serious health problem in infants. Therefore, screening and supplementation of pregnant and lactating women to prevent infantile vitamin B12 deficiency should be considered.

HIF1-α-Mediated Gene Expression Induced by Vitamin B1 Deficiency

2013 ◽  
Vol 83 (3) ◽  
pp. 188-197 ◽  
Author(s):  
Rebecca L. Sweet ◽  
Jason A. Zastre
Keyword(s):  
Gene Expression ◽  
Thiamine Deficiency ◽  
Glucose Transporter ◽  
Neuroblastoma Cell ◽  
Hypoxia Inducible Factor ◽  
Clinical Manifestations ◽  
Vitamin B1 ◽  
Low Oxygen ◽  
Glucose Transporter 1 ◽  
Metabolic Intermediates

It is well established that thiamine deficiency results in an excess of metabolic intermediates such as lactate and pyruvate, which is likely due to insufficient levels of cofactor for the function of thiamine-dependent enzymes. When in excess, both pyruvate and lactate can increase the stabilization of the hypoxia-inducible factor 1-alpha (HIF-1α) transcription factor, resulting in the trans-activation of HIF-1α regulated genes independent of low oxygen, termed pseudo-hypoxia. Therefore, the resulting dysfunction in cellular metabolism and accumulation of pyruvate and lactate during thiamine deficiency may facilitate a pseudo-hypoxic state. In order to investigate the possibility of a transcriptional relationship between hypoxia and thiamine deficiency, we measured alterations in metabolic intermediates, HIF-1α stabilization, and gene expression. We found an increase in intracellular pyruvate and extracellular lactate levels after thiamine deficiency exposure to the neuroblastoma cell line SK-N-BE. Similar to cells exposed to hypoxia, there was a corresponding increase in HIF-1α stabilization and activation of target gene expression during thiamine deficiency, including glucose transporter-1 (GLUT1), vascular endothelial growth factor (VEGF), and aldolase A. Both hypoxia and thiamine deficiency exposure resulted in an increase in the expression of the thiamine transporter SLC19A3. These results indicate thiamine deficiency induces HIF-1α-mediated gene expression similar to that observed in hypoxic stress, and may provide evidence for a central transcriptional response associated with the clinical manifestations of thiamine deficiency.

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