Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp tool

ABSTRACT Background: Williams-Beuren syndrome is a multisystemic disorder caused by a microdeletion of the 7q11.23 region. Although familial cases with autosomal dominant inheritance have been reported, the vast majority are sporadic. Objective: To investigate the main complaints and clinical findings of patients with Williams-Beuren syndrome. Methods: A total of 757 parents of patients registered in the Brazilian Association of Williams-Beuren Syndrome (ABSW) received a questionnaire via WhatsApp from March to July 2017. Results: In total, 229 parents answered the survey. Age of diagnosis ranged from 2 days to 34 years (median: 3 years). The main clinical findings reported by the parents were abdominal colic (83.3%), failure to thrive (71.5%), feeding difficulty in the first year (68.9%), otitis (56.6%), urinary tract infections (31.9%), precocious puberty (27.1%) and scoliosis (15.9%). Cardiac defects were present in 66% of patients, and the most frequent defect was supravalvular aortic stenosis (36%). Arterial hypertension was reported in 23%. Hypercalcemia was reported in 10.5% of patients, mainly during the first year of life. Hyperacusis and hypersociability were common complaints (both present in 89%). Other behavioral and neuropsychiatric symptoms reported by the parents included attention deficit (89%), anger crises (83%), excessive fear (66%), depression (64%), anxiety (67%) and hypersexuality (33%). The most common complaints were hypersensitivity to sounds, talkative personality, emotional dependence and learning difficulties. In 98.3%, the parents denied family history. Conclusions: Williams-Beuren syndrome requires close follow-up with different medical specialties due to their variable clinical comorbidities, including language and school learning difficulties, behavioral and psychiatric problems.

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Nutritional B12 Deficiency in Infants of Vitamin B12-Deficient Mothers

International Journal for Vitamin and Nutrition Research ◽

10.1024/0300-9831/a000080 ◽

2011 ◽

Vol 81 (5) ◽

pp. 328-334 ◽

Cited By ~ 6

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.

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Deferred Action for Childhood Arrivals (DACA) medical students – an examination of their journey and experiences as medical students in limbo

BMC Medical Education ◽

10.1186/s12909-021-02787-5 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Christina Gillezeau ◽

Wil Lieberman-Cribbin ◽

Kristin Bevilacqua ◽

Julio Ramos ◽

Naomi Alpert ◽

...

Keyword(s):

Medical Students ◽

Medical School ◽

First Year ◽

Convenience Sample ◽

Student Sample ◽

Medical Specialties ◽

Residency Programs ◽

Deferred Action ◽

The Status ◽

Depth Interviews

Abstract Background Although the value of DACA medical students has been hypothesized, no data are available on their contribution to US healthcare. While the exact number of DACA recipients in medical school is unknown, DACA medical students are projected to represent an increasing proportion of physicians in the future. The current literature on DACA students has not analyzed the experiences of these students. Methods A mixed-methods study on the career intentions and experiences of DACA medical students was performed utilizing survey data and in-depth interviews. The academic performance of a convenience sample of DACA medical students was compared to that of matriculated medical students from corresponding medical schools, national averages, and first-year residents according to specialty. Results Thirty-three DACA medical students completed the survey and five participated in a qualitative interview. The average undergraduate GPA (SD) of the DACA medical student sample was 3.7 (0.3), the same as the national GPA of 2017–2018 matriculated medical students. The most common intended residency programs were Internal Medicine (27.2%), Emergency Medicine (15.2%), and Family Medicine (9.1%). In interviews, DACA students discussed their motivation for pursuing medicine, barriers and facilitators that they faced in attending medical school, their experiences as medical students, and their future plans. Conclusions The intent of this sample to pursue medical specialties in which there is a growing need further exemplifies the unique value of these students. It is vital to protect the status of DACA recipients and realize the contributions that DACA physicians provide to US healthcare.

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Student Perceived Value of Anatomy Pedagogy, Part I: Prosection or Dissection?

Journal of Medical Education and Curricular Development ◽

10.4137/jmecd.s17496 ◽

2015 ◽

Vol 2 ◽

pp. JMECD.S17496 ◽

Cited By ~ 2

Author(s):

Jonathan J. Wisco ◽

Stephanie Young ◽

Paul Rabedeaux ◽

Seth D. Lerner ◽

Paul F. Wimmers ◽

...

Keyword(s):

Medical Education ◽

Medical School ◽

Student Perceptions ◽

Medical Curriculum ◽

Clinical Skills ◽

School Experience ◽

First Year ◽

Biomedical Sciences ◽

Medical Specialties ◽

Preclinical Medical Education

A series of three annual surveys of David Geffen School of Medicine (DGSOM) at UCLA students and UCR/UCLA Thomas Haider Program in Biomedical Sciences students were administered from 2010 to 2012 to ascertain student perceptions of which anatomy pedagogy—prosection or dissection—was most valuable to them during the first year of preclinical medical education and for the entire medical school experience in general. Students were asked, “What value does gross anatomy education have in preclinical medical education?” We further asked the students who participated in both prosection and dissection pedagogies, “Would you have preferred an anatomy curriculum like the Summer Anatomy Dissection during your first year in medical school instead of prosection?” All students who responded to the survey viewed anatomy as a highly valued part of the medical curriculum, specifically referring to four major themes: Anatomy is (1) the basis for medical understanding, (2) part of the overall medical school experience, (3) a bridge to understanding pathology and physiology, and (4) the foundation for clinical skills. Students who participated in both prosection and dissection pedagogies surprisingly and overwhelmingly advocated for a prosection curriculum for the first year of medical school, not a dissection curriculum. Time efficiency was the dominant theme in survey responses from students who learned anatomy through prosection and then dissection. Students, regardless of whether interested in surgery/radiology or not, appreciated both pedagogies but commented that prosection was sufficient for learning basic anatomy, while dissection was a necessary experience in preparation for the anatomical medical specialties. This suggests that anatomy instruction should be integrated into the clinical years of medical education.

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Dendritic cells in the mucosa of the human trachea are not regularly found in the first year of life

Thorax ◽

10.1136/thx.56.6.427 ◽

2001 ◽

Vol 56 (6) ◽

pp. 427-431 ◽

Cited By ~ 1

Author(s):

T Tschernig ◽

A S Debertin ◽

F Paulsen ◽

W J Kleemann ◽

R Pabst

Keyword(s):

Dendritic Cells ◽

Sudden Death ◽

Respiratory Tract ◽

Age Groups ◽

First Year ◽

Tracheal Mucosa ◽

Transmission Electron ◽

Human Airways ◽

Tract Infections ◽

First Year Of Life

BACKGROUNDDendritic cells (DCs) in the mucosa of the respiratory tract might be involved in the early development of pulmonary allergy or tolerance. To date, little is known about when the first DCs occur in human airways.METHODSSpecimens of the distal trachea from patients who had died from sudden death in the first year of life (n=29) and in older age groups (n=59) as well as from those who had died from respiratory tract infections in the first year of life (n=8) were examined by immunohistochemistry. Transmission electron microscopy was performed in additional samples from two adults.RESULTSIn the sudden death subgroup DCs were absent in 76% of those who died in the first year of life but were present in 53 of the 59 older cases. All infants who had died of respiratory infectious diseases had DCs in the tracheal mucosa.CONCLUSIONSMature DCs are not constitutively present in the human tracheobronchial mucosa in the first year of life, but their occurrence seems to be triggered by infectious stimuli. These data support the hypothesis that DCs play a crucial role in immunoregulation in early childhood.

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Circumcision and Urinary Tract Infections

PEDIATRICS ◽

10.1542/peds.77.2.267a ◽

1986 ◽

Vol 77 (2) ◽

pp. 267-269

Author(s):

THOMAS E. WISWELL

Keyword(s):

Urinary Tract ◽

Urinary Tract Infections ◽

First Year ◽

Tract Infections ◽

First Year Of Life

In Reply.— Dr Cunningham apparently believes that there is no plausible physiologic explanation for the association between a decreased incidence of urinary tract infections and circumcisions as we recently described,1 and that we should seek alternative explanations for our findings. However, we disagree with most of the alternative suggestions and the comments that he has made. We recently completed a second study evaluating the occurrence of urinary tract infections during the first year of life in more than 400,000 infants.

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Larger Numbers Needed

PEDIATRICS ◽

10.1542/peds.80.5.764 ◽

1987 ◽

Vol 80 (5) ◽

pp. 764-764

Author(s):

THOMAS E. WISWELL

Keyword(s):

Urinary Tract Infection ◽

Urinary Tract ◽

Tract Infection ◽

Urinary Tract Infections ◽

First Year ◽

Infection Rates ◽

Symptomatic Urinary Tract Infection ◽

Tract Infections ◽

First Year Of Life

In Reply.— Dr Altschul presents data on urinary tract infections during infancy and reports infection rates substantially lower than those we have previously reported.1,2 He then makes several conclusions based on these differences. His data indicate that the maximum infection rates would be 0.11% among girls and 0.02% and 0.12% among circumcised and uncircumcised boys, respectively. In contrast, from a population of 422,328 infants, we found the overall incidence of symptomatic urinary tract infection during the first year of life to be 0.57% in girls, 0.11% in circumcised boys, and 1.12% in uncircumcised boys.

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Urinary tract infections and bladder management over the first year after discharge from inpatient rehabilitation

Spinal Cord Series and Cases ◽

10.1038/s41394-018-0125-0 ◽

2018 ◽

Vol 4 (1) ◽

Cited By ~ 2

Author(s):

Michael D. Stillman ◽

Jeanne M. Hoffman ◽

Jason K. Barber ◽

Steve R. Williams ◽

Stephen P. Burns

Keyword(s):

Urinary Tract ◽

Urinary Tract Infections ◽

Inpatient Rehabilitation ◽

First Year ◽

Bladder Management ◽

Tract Infections

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Inspiration, Strategies and Insight for Learning Programming Language

Journal of Management Research ◽

10.5296/jmr.v13i2.17634 ◽

2021 ◽

Vol 13 (2) ◽

Author(s):

Gajendra Sharma ◽

Toshika Ojha

Keyword(s):

Programming Language ◽

Undergraduate Students ◽

Learning Difficulties ◽

First Year ◽

C Programming ◽

Teachers And Students ◽

The Subject ◽

First Programming Language ◽

Learning Programming ◽

Programming Courses

This study explores how the first-year undergraduate students in School of Engineering, Kathmandu University learns their very first programming language i.e. C programming. The students were requested to response to an online questioner, where they were asked about their perception about the programming language they are learning, their motivation on learning that particular language and their strategy on preparing for the subject. Student’s concept on C programming and their approach for preparing for the exam are categorized. Our results show what kind of different strategies they use to learn this particular programming language. Additionally, the insights of this paper point that learning theory of programming and practicing programming goes hand in hand in C programming course and the focus here is on learning difficult topics which involves investigating students perceptions and conceptions of causality in relation to learning difficulties (Berglund et al., 2009). This study is intended to be helpful for future teachers and students in programming courses in Nepal.

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Corroborative Evidence for the Decreased Incidence of Urinary Tract Infections in Circumcised Male Infants

PEDIATRICS ◽

10.1542/peds.78.1.96 ◽

1986 ◽

Vol 78 (1) ◽

pp. 96-99 ◽

Cited By ~ 7

Author(s):

Thomas E. Wiswell ◽

John D. Roscelli

Keyword(s):

Urinary Tract Infection ◽

Urinary Tract ◽

Tract Infection ◽

Urinary Tract Infections ◽

First Year ◽

Us Army ◽

Army Hospitals ◽

Corroborative Evidence ◽

Tract Infections ◽

First Year Of Life

We report the results of a two-part study examining the incidence of urinary tract infection during the first year of life. In the first part of the investigation, we reviewed the occurrence of urinary tract infection in a cohort of 3,924 infants born at our institution during a 4-year period. Infection developed in 16 infants (0.41%). The incidence of urinary tract infection in noncircumcised males was greater than the incidence in both female (P < .004) and circumcised male (P < .001) infants. In the second part of the study, we explored the frequency of urinary tract infection in all infants born in US Army hospitals, worldwide, over a 10-year period. There were 422,328 infants born in army facilities during this time period. Subsequent hospitalization for urinary tract infection occurred for 1,825 (0.43%) infants during the first year of life. Overall, there was no male preponderance for infections in early infancy compared with females. After an equivalent incidence during the first month of life, female infants had significantly more infections than did male infants (P < .001). However, noncircumcised male infants had a higher incidence of urinary tract infection than female infants (P < .001). Additionally, noncircumcised male infants had a tenfold greater incidence of infection than circumcised male infants (P < .001). There was a significant decrease in the circumcision frequency rate during the 10-year study period (from 85.4% to 73.9%, P < .001). As the number of circumcisions decreased, there was a concomitant increase in the overall number of urinary tract infections in males (P <.02). A reduced incidence of infection may be at least one medical benefit of routine neonatal circumcision.

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Decreased Incidence of Urinary Tract Infections in Circumcised Male Infants

PEDIATRICS ◽

10.1542/peds.75.5.901 ◽

1985 ◽

Vol 75 (5) ◽

pp. 901-903 ◽

Cited By ~ 4

Author(s):

THOMAS E. WISWELL ◽

FRANKLIN R. SMITH ◽

JAMES W. BASS

Keyword(s):

Urinary Tract Infection ◽

Urinary Tract ◽

Tract Infection ◽

Urinary Tract Infections ◽

Male Infant ◽

Large Cohort ◽

First Year ◽

Tract Infections ◽

First Year Of Life ◽

Increased Susceptibility

In a recent report of 100 infants less than 8 months of age with urinary tract infection, it was noted that 95% of the male infants were not circumcised.1 The authors speculated from this observation that the uncircumcised male infant may have an increased susceptibility to urinary tract infection, but commented that the incidence of urinary tract infection in uncircumcised compared with circumcised infants was unknown. We report the results of a study documenting the incidence of unnary tract infection during the first year of life in a large cohort of infants born at our institution over an 18-month period and we also document the incidence of urinary tract infection in circumcised compared with uncircumcised male infants.

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