scholarly journals Rubinstein-Taybi syndrome

2004 ◽  
Vol 132 (suppl. 1) ◽  
pp. 109-110
Author(s):  
Slobodanka Grkovic ◽  
Milos Jesic ◽  
Maja Jesic ◽  
Svjetlana Maglajlic
Keyword(s):  
Clinical Features ◽  
Neonatal Period ◽  
Male Child ◽  
Psychomotor Development ◽  
Facial Dysmorphism ◽  
Corrective Surgery ◽  
Hands And Feet ◽  
And Control

Rubinstein-Taybi syndrome is a malformation occurring with approximate incidence of 1 per 10.000 live-born children. The diagnosis is usually based on specific facial dysmorphism in neonatal period, as well as on characteristic deformities of the hands and feet. Our study presents a male child who was diagnosed to have Rubinstein-Taybi syndrome when he was one month old. The child had all characteristic clinical features. In further follow-up period, corrective surgery and control of his psychomotor development are being planned.

scholarly journals Impact of emollient therapy for preterm infants in the neonatal period on child neurodevelopment in Bangladesh: an observational cohort study

2021 ◽  
Vol 40 (1) ◽  
Author(s):  
Gary L. Darmstadt ◽  
Naila Z. Khan ◽  
Summer Rosenstock ◽  
Humaira Muslima ◽  
Monowara Parveen ◽  
...  
Keyword(s):  
Preterm Infants ◽  
Assessment Tool ◽  
Neonatal Period ◽  
Newborn Infants ◽  
Psychomotor Development ◽  
Fine Motor ◽  
Neurodevelopmental Outcomes ◽  
Link Type ◽  
Child Neurodevelopment

Abstract Background Topical treatment with sunflower seed oil (SSO) or Aquaphor® reduced sepsis and neonatal mortality in hospitalized preterm infants <33 weeks’ gestational age in Bangladesh. We sought to determine whether the emollient treatments improved neurodevelopmental outcomes during early childhood. Methods 497 infants were randomized to receive SSO, Aquaphor®, or neither through the neonatal period or hospital discharge. 159 infant survivors were enrolled in the longitudinal follow-up study using a validated Rapid Neurodevelopmental Assessment tool and the Bayley Scales of Infant Development II (BSID II) administered at three-monthly intervals for the first year and thereafter at six-monthly intervals. Lowess smoothing was used to display neurodevelopmental status across multiple domains by age and treatment group, and Generalized Estimating Equations (GEE) were used to compare treatment groups across age points. Results 123 children completed at least one follow-up visit. Lowess graphs suggest that lower proportions of children who received massage with either SSO or Aquaphor® had neurodevelopmental delays than control infants in a composite outcome of disabilities. In GEE analysis, infants receiving SSO showed a significant protective effect on the development of fine motor skills [odds ratio (OR) 0.92, 95% confidence interval (CI) 0.86–0.98, p=0.006]. The Psychomotor Development Index (PDI) in the BSID II showed significantly lower disability rates in the Aquaphor group (23.6%) compared to the control (55.2%) (OR 0.21, 95% CI 0.06–0.72, p=0.004). Conclusions Emollient massage of very preterm, hospitalized newborn infants improved some child neurodevelopmental outcomes over the first 2 years of follow-up. Findings warrant further confirmatory research. Trial registration ClinicalTrials.gov (98-04-21-03-2) under weblink https://clinicaltrials.gov/ct2/show/NCT00162747

scholarly journals Fraternal twins with Phelan-McDermid syndrome not involving the SHANK3 gene: case report and literature review

2020 ◽  
Vol 13 (1) ◽  
Author(s):  
Shan Li ◽  
Ke-wang Xi ◽  
Ting Liu ◽  
Ying Zhang ◽  
Meng Zhang ◽  
...  
Keyword(s):  
Clinical Features ◽  
De Novo ◽  
Genetic Disorder ◽  
Deletion Syndrome ◽  
Facial Dysmorphism ◽  
Germline Mosaicism ◽  
Third Generation Sequencing ◽  
Neurological Features ◽  
Hands And Feet ◽  
Abnormal Behaviors

Abstract Background Phelan-McDermid syndrome (PMS, OMIM#606232), or 22q13 deletion syndrome, is a rare genetic disorder caused by deletion of the distal long arm of chromosome 22 with a variety of clinical features that display considerably heterogeneous degrees of severity. The SHANK3 gene is understood to be the critical gene for the neurological features of this syndrome. Case presentation We describe one pair of boy-girl twins with a 22q13 deletion not involving the SHANK3 gene. Interestingly, the clinical and molecular findings of the two patients were identical, likely resulting from germline mosaicism in a parent. The boy-girl twins showed intellectual disability, speech absence, facial dysmorphism, cyanosis, large fleshy hands and feet, dysplastic fingernails and abnormal behaviors, and third-generation sequencing showed an identical de novo interstitial deletion of 6.0 Mb in the 22q13.31-q13.33 region. Conclusions Our case suggests that prenatal diagnosis is essential for normal parents with affected children due to the theoretical possibility of parental germline mosaicism. Our results also indicated that other genes located in the 22q13 region may have a role in explaining symptoms in individuals with PMS. In particular, we propose that four candidate genes, CELSR1, ATXN10, FBLN1 and WNT7B, may also be involved in the etiology of the clinical features of PMS. However, more studies of smaller interstitial deletions with 22q13 are needed to corroborate our hypothesis and better define the genotype-phenotype correlation. Our findings contribute to a more comprehensive understanding of PMS.

scholarly journals Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality

2016 ◽  
Vol 2016 ◽  
pp. 1-3 ◽  
Author(s):  
Gioconda Manassero-Morales ◽  
Denisse Alvarez-Manassero ◽  
Alfredo Merino-Luna
Keyword(s):  
Short Stature ◽  
Chromosomal Abnormality ◽  
Neonatal Period ◽  
Karyotype Analysis ◽  
Ring Chromosome ◽  
Chromosome 21 ◽  
Psychomotor Development ◽  
Short Neck ◽  
Unique Case ◽  
Hands And Feet

Introduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality.Objective. To report a unique case of double monoclonal chromosomal abnormality with trisomy of chromosome 21 and an X ring chromosome in all cells studied; no previous report has been found.Case Report. Female, 28 months old, with pathological short stature from birth, with the following dysmorphic features: tilted upward palpebral fissures, short neck, brachycephaly, and low-set ears. During the neonatal period, the infant presented generalized hypotonia and lymphedema of hands and feet. Karyotype showed 47,X,r(X),+21 [30].Conclusion. Clinical features of both Down and Turner syndromes were found, highlighting short stature that has remained below 3zscore from birth to the present, associated with delayed psychomotor development. G-banded karyotype analysis in peripheral blood is essential for a definitive diagnosis.

scholarly journals Long-term follow-up of a patient with syndromic diarrhea (tricho-hepato-enteral syndrome) with Crohn's-like syndrome

2021 ◽  
Vol 66 (5) ◽  
pp. 227-232
Author(s):  
E. A. Kurmaeva ◽  
S. Ya. Volgina ◽  
N. A. Solovyeva ◽  
G. A. Kulakova ◽  
V. V. Bogolyubova ◽  
...  
Keyword(s):  
Morphological Changes ◽  
Final Diagnosis ◽  
Malabsorption Syndrome ◽  
Psychomotor Development ◽  
Facial Dysmorphism ◽  
Endocrine Disorders ◽  
Long Term Follow Up ◽  
Diarrhea Syndrome

Objective. To describe a long-term follow-up of a patient with a rare genetic disease – syndromic diarrhea, or trichohepatoenteric syndrome.Results. From the first months of life, the child was diagnosed with incurable diarrhea syndrome, which led to the development of malabsorption syndrome, retardation of physical and psychomotor development. Long-term follow-up revealed the progression of malabsorption syndrome, metabolic and endocrine disorders against the background of increasing morphological changes in the intestine. Only a genetic study of the patient and his parents made it possible to formulate the final diagnosis: «Syndromic diarrhea (trichohepatoenteric syndrome, nucleotide variant g.31929071C> T homozygous in the SKIV2L gene) with crown-like syndrome».Conclusion. The combination of incurable chronic diarrhea syndrome with facial dysmorphism, skin and hair abnormalities is important for this diagnosis.

Research Participation Experiences of Informants of Suicide and Control Cases

Crisis ◽  
2010 ◽  
Vol 31 (5) ◽  
pp. 238-246 ◽  
Author(s):  
Paul W. C. Wong ◽  
Wincy S. C. Chan ◽  
Philip S. L. Beh ◽  
Fiona W. S. Yau ◽  
Paul S. F. Yip ◽  
...  
Keyword(s):  
Ethical Issues ◽  
Research Participation ◽  
Self Report ◽  
Initial Contact ◽  
Psychological Autopsy ◽  
Autopsy Study ◽  
The People ◽  
And Control ◽  
The Impact

Background: Ethical issues have been raised about using the psychological autopsy approach in the study of suicide. The impact on informants of control cases who participated in case-control psychological autopsy studies has not been investigated. Aims: (1) To investigate whether informants of suicide cases recruited by two approaches (coroners’ court and public mortuaries) respond differently to the initial contact by the research team. (2) To explore the reactions, reasons for participation, and comments of both the informants of suicide and control cases to psychological autopsy interviews. (3) To investigate the impact of the interviews on informants of suicide cases about a month after the interviews. Methods: A self-report questionnaire was used for the informants of both suicide and control cases. Telephone follow-up interviews were conducted with the informants of suicide cases. Results: The majority of the informants of suicide cases, regardless of the initial route of contact, as well as the control cases were positive about being approached to take part in the study. A minority of informants of suicide and control cases found the experience of talking about their family member to be more upsetting than expected. The telephone follow-up interviews showed that none of the informants of suicide cases reported being distressed by the psychological autopsy interviews. Limitations: The acceptance rate for our original psychological autopsy study was modest. Conclusions: The findings of this study are useful for future participants and researchers in measuring the potential benefits and risks of participating in similar sensitive research. Psychological autopsy interviews may be utilized as an active engagement approach to reach out to the people bereaved by suicide, especially in places where the postvention work is underdeveloped.

CLINICAL FEATURES, INDICATIONS AND RESULT OF TRACHEOTOMY

2017 ◽  
pp. 50-55
Author(s):  
Duc Luu Ngo ◽  
Tu The Nguyen ◽  
Manh Hung Ho ◽  
Thanh Thai Le
Keyword(s):  
Clinical Features ◽  
University Hospital ◽  
Female Ratio ◽  
Tube Obstruction ◽  
Level Ii ◽  
Study Results ◽  
Male Female Ratio ◽  
Hospital Patients ◽  
Level I

Background: This study aims to survey some clinical features, indications and results of tracheotomy at Hue Central Hospital and Hue University Hospital. Patients and method: Studying on 77 patients who underwent tracheotomy at all of departments and designed as an prospective, descriptive and interventional study. Results: Male-female ratio was 4/1. Mean age was 49 years. Career: farmer 44.2%, worker 27.2%, officials 14.3%, student 7.8%, other jobs 6.5%. Respiratory condition before tracheotomy: underwent intubation 62.3%, didn’t undergo intubation 37.7%. Period of stay of endotracheal tube: 1-5 days 29.2%, 6-14 days 52.1%, >14 days 18.7%. Levels of dyspnea before tracheotomy: level I 41.4%, level II 48.3%, level III 0%, 10.3% of cases didn’t have dyspnea. Twenty cases (26%) were performed as an emergency while fifty seven (74%) as elective produces. Classic indications (37.7%) and modern indications (62.3%). On the bases of the site, we divided tracheostomy into three groups: high (0%), mid (25.3%) and low (74.7%). During follow-up, 44 complications occurred in 29 patients (37.7%). Tracheobronchitis 14.3%, tube obstruction 13%, subcutaneous empysema 10.4%, hemorrhage 5%, diffcult decannulation 5.2%, tube displacement 3.9%, canule watery past 2.6%, wound infection 1.3%. The final result after tracheotomy 3 months: there are 33 patients (42.9%) were successfully decannulated. In the 33 patients who were successfully decannulated: the duration of tracheotomy ranged from 1 day to 90 days, beautiful scar (51.5%), medium scar (36.4%), bad scar (12.1%). Conclusions: In tracheotomy male were more than female, adult were more than children. The main indication was morden indication. Tracheobronchitis and tube obstruction were more common than other complications. Key words: Tracheotomy

The polymorphism at the microRNA-155 binding site in AGTR1 gene is not significantly associated with rheumatic heart disease in Saudi Arabia population

MicroRNA ◽  
2020 ◽  
Vol 09 ◽  
Author(s):  
S. Justin Carlus ◽  
Fiona Hannah Carlus ◽  
Mazen Khalid Al-Harbi ◽  
Abdulhadi H Al-Mazroea ◽  
Khalid M Al- Harbi ◽  
...  
Keyword(s):  
Saudi Arabia ◽  
Heart Disease ◽  
Rheumatic Heart Disease ◽  
Clinical Features ◽  
Left Ventricular ◽  
Genotype Distribution ◽  
Allelic Discrimination ◽  
Children And Young Adults ◽  
And Control ◽  
Rheumatic Heart

Background: Rheumatic heart disease (RHD) remains a major cause of cardiovascular diseases and the most devastating effects are on children and young adults. RHD is caused due to the interaction between microbial, environmental, immunologic, and genetic factors. The renin-angiotensin aldosterone system (RAAS) has been strongly implicated as the susceptibility pathway in the pathogenesis of cardiovascular disease. Objective: The present study investigated the modulating effect of Angiotensin II type 1 receptor (AGTR1) 1166A>C polymorphism on the RHD and its clinical features in Saudi Arabia. Methods: AGTR1 1166A>C polymorphism was genotyped in 96 echocardiographically confirmed RHD patients and 142 ethnically matched controls by TaqMan allelic discrimination method. Results: Genotype distribution of the AGTR1 1166A>C polymorphism was not significantly different between RHD and control groups. Further, AGTR1 1166A>C genotypes are not associated with the clinical features of RHD. These data support that there was no evidence for an association between AGTR1 1166A>C polymorphism and RHD in Saudi Arabia. Conclusion: To our knowledge, this is the first study that has investigated the possible association between AGTR1 1166A>C polymorphism and susceptibility to RHD and its clinical features. Even though AGTR1 gene is 1166A>C (rs5186) was reported to be associated with hypertension, left ventricular hypertrophy and coronary heart disease. Present study did not find any association between AGTR1 1166A>C polymorphism and RHD in Saudi Arabia. Further studies are needed to confirm our findings.

Obesity management through Ayurveda - A Case Study

2017 ◽  
Vol 2 (4) ◽  
Author(s):  
Dheeraj Kumar Tyagi ◽  
Shivakumar .
Keyword(s):  
Clinical Findings ◽  
Dietary Habit ◽  
Unhealthy Lifestyle ◽  
Lifestyle Management ◽  
Before And After ◽  
Effect Of Treatment ◽  
And Control

Lifestyle disorders are one of the biggest threats for the population living unhealthy lifestyle. Sthoulya (Obesity) is one such disorder which creates lot of physical as well as mental disorder to the sufferer. Due to changing lifestyle, comforts and dietary habit lots of individuals changed their life totally. Obesity is a growing disease in developed and developing countries. Prevalence is drastically hike in past few years. Ayurveda, the science of life with which we can manage and control lots of lifestyle disorders. Focusing on dietary and lifestyle management along with treatment, we can overcome the hazards of obesity which is growing in a uncontrolled manner. The available data is based on the clinical findings only. Aim and objective: To assess the effect of “Guru Cha Atarpanam Chikitsa” in the management of Sthoulya. Setting: Swastharakshana evam Yoga, OPD and IPD, SDMCAH, Hassan. Method: Udwarthana, Parisheka, Shamana Aushadhis, Ahara, and Vihara was followed within the treatment duration and effect of treatment was assessed before and after treatment, advised for follow up. Results: The treatment adopted is effective in the management of Sthoulya and to improve the quality of life.

scholarly journals Severe tricuspid regurgitation 14 years after diagnosis of “transient neonatal tricuspid regurgitation”

Heart ◽  
2001 ◽  
Vol 86 (1) ◽  
pp. 88-90
Author(s):  
D Boshoff ◽  
L Mertens ◽  
M Gewillig
Keyword(s):  
Tricuspid Regurgitation ◽  
Neonatal Period ◽  
Clinical Course ◽  
Subsequent Evolution ◽  
Severe Tricuspid Regurgitation ◽  
Echocardiographic Examination ◽  
Long Term Follow Up ◽  
Transient Tricuspid Regurgitation

A 14 year old girl presented with severe tricuspid regurgitation after she was diagnosed with “transient tricuspid regurgitation of the newborn”. In the neonatal period she had presented with severe tricuspid regurgitation without an obvious underlying anatomical cause. This spontaneously regressed during the first months of life. She was dismissed from follow up at the age of 5 years after complete normalisation of the clinical and echocardiographic examination. The subsequent evolution and management of the patient, as well as the possible pathogenesis responsible for the unusual clinical course, is discussed. This case stresses the importance of long term follow up of patients with transient tricuspid regurgitation.

scholarly journals Etiological, epidemiological, and clinical features of acute diarrhea in China

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Li-Ping Wang ◽  
◽  
Shi-Xia Zhou ◽  
Xin Wang ◽  
Qing-Bin Lu ◽  
...  
Keyword(s):  
Clinical Features ◽  
Acute Diarrhea ◽  
Vibrio Parahaemolyticus ◽  
Bacterial Pathogens ◽  
Control Measures ◽  
Viral Pathogens ◽  
Rotavirus A ◽  
Positive Rate ◽  
Prevention And Control Measures ◽  
And Control

AbstractNational-based prospective surveillance of all-age patients with acute diarrhea was conducted in China between 2009‒2018. Here we report the etiological, epidemiological, and clinical features of the 152,792 eligible patients enrolled in this analysis. Rotavirus A and norovirus are the two leading viral pathogens detected in the patients, followed by adenovirus and astrovirus. Diarrheagenic Escherichia coli and nontyphoidal Salmonella are the two leading bacterial pathogens, followed by Shigella and Vibrio parahaemolyticus. Patients aged <5 years had higher overall positive rate of viral pathogens, while bacterial pathogens were more common in patients aged 18‒45 years. A joinpoint analysis revealed the age-specific positivity rate and how this varied for individual pathogens. Our findings fill crucial gaps of how the distributions of enteropathogens change across China in patients with diarrhea. This allows enhanced identification of the predominant diarrheal pathogen candidates for diagnosis in clinical practice and more targeted application of prevention and control measures.

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