PROGNOSIS IN NEWBORN INFANTS WITH X-CHROMOSOMAL ABNORMALITIES

Sex-chromosomal aberrations occur with a relatively high frequency and have been associated with mental retardation, perceptual problems, psychopathology, and growth abnormalities. Identification of this possibly high risk group at birth enables the study of their growth and development to determine if and when they deviate from normal. Routine screening of the chromatin constitution of 21,214 consecutive newborn infants has identified 32 babies with gross X chromosome abnormalities. Three died in the newborn period. During the past 5 years, 27 children have been followed from birth. The evaluation process consists of semiannual and annual physical and developmental examinations, psychological testing, growth measurements, pedigree analysis, dermatoglyphic analysis, home environment evaluation, and, in mosaics, repeated chromosome analysis. The patients with 45,X karyotypes have classical physical signs. The other patients have normal phenotypes, although several have minor physical manifestations such as clinodactyly and epicanthic folds. Overall development in all except two patients has been within normal limits. In mosaics, there is a tendency for the abnormal cell line to disappear.

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ID:2035 Chromosomal abnormalities and treatment response in Multiple myeloma patients at Cho Ray hospital

Biomedical Research and Therapy ◽

10.15419/bmrat.v4is.274 ◽

2017 ◽

Vol 4 (S) ◽

pp. 66

Author(s):

Thanh Thanh Suzanne ◽

Oanh Hoang Le ◽

Xinh Thi Phan ◽

Tung Thanh Tran ◽

Cuong Kim Nguyen ◽

...

Keyword(s):

Multiple Myeloma ◽

Response Rate ◽

Chromosomal Abnormalities ◽

Chromosome Analysis ◽

High Risk Group ◽

Hematopoietic Stem ◽

Malignant Plasma Cell ◽

Appropriate Therapy ◽

Phase Ii And Iii ◽

Worse Prognosis

Multiple myeloma (MM) is a malignant plasma cell, generating abnormal immunoglobulins in the blood and urin. From January 2012 to December 2014, we performed chromosome analysis and treatment for 44 MM patients with the regimens containing Bortezomib (VD, VMP, VD plus autologus hematopoietic stem cell transplantation) at the Hematology department, Cho Ray hospital. The patient median of age was 64 year old, with the proportion of male/female was 0.83. IgG and IgA were two most common M-protein with accounting for 44.7% and 22.7%, respectively. Patients were usually admitted to the hospital late in phase II and III of disease. 43 of 44 MM patient haboring chromosomal abnormalities. Karyotyping analysis results showed that 3.7% cases with hypodiploidy and 14.8% cases hyperdiploidy. Translocation t(4;14), t(6;14), t(11;14) and t(14;16) were found in 6.8%, 4.5%, 11.3% and 4.5% of cases, respectively. Del(13q) and del(17p) accounted for 31.8% and 29.5% of cases. High risk group was found in 40.9% of cases. Patients carrying the translocation t(4;14) had the worse prognosis than other abnormalities with low response rate and overall survival, whereas higher rate of mortality. Results of our study showed that chromosomal abnormalities in MM are diversity and high percentage that affect the prognosis. Therefore, we need to indentify chromosomal abnormalities before treatment to select appropriate therapy regiments.

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Failure of Pediatricians to Provide Automobile Restraint Information to Parents

PEDIATRICS ◽

10.1542/peds.60.4.646 ◽

1977 ◽

Vol 60 (4) ◽

pp. 646-648

Author(s):

Paul S. Simons

Keyword(s):

Metropolitan Area ◽

Newborn Infants ◽

Mercy Hospital ◽

The Past ◽

Child Restraint ◽

Practicing Physicians ◽

Highway Crashes

In the past decade, over 15,000 children under the age of 5 years were killed in highway crashes (1,988 fatalities in l973).1-3 Practicing physicians could well prevent many such tragic deaths by educating parents on the value of automobile seat restraints.4-5 This study was designed to investigate parental use of automobile child restraint devices in the St. Louis metropolitan area and to determine what influence physicians had on the use of these devices. METHOD Questionnaires were sent to the mothers of 559 newborn infants delivered at Barnes Hospital in St. Louis in September and October 1974 and to the mothers of 757 newborns delivered at St. John's Mercy Hospital in St. Louis County from December 15, 1974, through February 14, 1975.

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SURVIVAL OF A ONE-POUND FEMALE INFANT BORN IN 1847

PEDIATRICS ◽

10.1542/peds.66.2.253 ◽

1980 ◽

Vol 66 (2) ◽

pp. 253-253

Author(s):

T. E. C.

Keyword(s):

Premature Infants ◽

Literature Search ◽

Survival Rates ◽

Newborn Infants ◽

Female Infant ◽

Second Child ◽

The Past ◽

First Child ◽

Accepted Practice

After a thorough literature search of the survival rates of premature infants, I believe the infant described below was the smallest to survive until this century.1 I am mindful that the reported birth weights in the past may have been inaccurate because the weighing of newborn infants was not an accepted practice prior to this century. 2 Mrs. A. (aged 30) weaned her first child on the 17th of November 1846, a fortnight after which (1st December) she menstruated naturally. Two days after the catamenia disappeared (7th December), she conceived, having the same sensations post coitu which she felt at her previous conception. At four months she quickened. She was delivered (by a midwife) of her second child, a female, on the 14th of May 1847-on the hundred and fifty-eighth day of gestation. The child had only rudimentary nails, and almost no hair, except a little, of slightly reddish colour, at the lower part of the back of the head. It weighed one pound, and measured eleven inches. It was merely wrapped up at first, laid in a box about a foot long, used by the father (who is a slater) for carrying nails, and set on the kitchen fender, before the fire, to keep it warm. It came on very well, and was subsequently treated very much the same as other children, except perhaps, that it was a little more looked after than usual, being considered a curiosity. She is still of small make but is quite healthy, and takes her food well.

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INTELLIGENCE OF THE UNIDENTIFIED PHENYLKETONURIC CHILD

PEDIATRICS ◽

10.1542/peds.40.2.247 ◽

1967 ◽

Vol 40 (2) ◽

pp. 247-249

Author(s):

Eleanor S. Brown ◽

Harry A. Waisman

Keyword(s):

Mental Retardation ◽

Risk Group ◽

High Risk Group ◽

Routine Testing ◽

Blood Tests ◽

The Past ◽

Results Of Treatment ◽

Expected Outcome ◽

Mental Abilities ◽

Severe Retardation

BESSMAN has raised a number of questions regarding treatment of patients with phenylketonuria (PKU), some of which can be answered by data presently available. The most important of these concerns the expected outcome for an untreated phenylketonuric child. If it is possible, as Bessman suggests, that PKU is often very benign and that we have identified only the atypical severe cases, then the apparent results of treatment may be due simply to observing the more usual course of the disease. Therefore, it is important to study a high-risk group of children who have not previously been tested for PKU. This group consists of those siblings who were already born at the time that the proband was diagnosed. Since routine testing for PKU has only been done recently, these children presumably have not been tested previously. The number of PKU siblings expected in this group of previously untested brothers and sisters is partially dependent upon the frequency and degree of mental retardation in the disease as suggested by the following possibilities: 1. If mental retardation is incidental in PKU, then one fourth of these siblings would be expected to have PKU as determined by blood and urine tests, and their mental abilities, which might be normal, would be considered typical of untreated phenylketonuric individuals. This would also indicate that most families with PKU members have not been found during the past 10 years, when most cases were ascertained because of mental retardation. 2.If PKU causes severe retardation and urine and blood tests are done on all retarded children, then the first affected child would be identified as the proband in each family; all siblings born before the proband would be non-PKU, and all children with true PKU would be clearly identified.

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Group B Streptococcal Infections in Neonates

Pediatrics in Review ◽

10.1542/pir.1.1.5 ◽

1979 ◽

Vol 1 (1) ◽

pp. 5-15

Author(s):

Carol J. Baker

Keyword(s):

Group B Streptococcus ◽

Newborn Infants ◽

Neonatal Infection ◽

Etiologic Agent ◽

Diagnostic Methods ◽

Bacterial Disease ◽

Absolute Increase ◽

Mortality And Morbidity ◽

The Past ◽

Group B

β-Hemolytic streptococci of Lancefield group B have been causally linked to neonatal disease since 1938, but only in the last decade has the group B Streptococcus become the leading etiologic agent for bacteremia and/or meningitis occurring during the first two months of life. Neither the reasons for the emergence of this organism nor the shifts over the past 40 years in the prevalence of various bacteria responsible for neonatal infection has been adequately explained. However, the importance of the group B Streptococcus as a frequent cause of neonatal mortality and morbidity demands a thorough understanding of the epidemiology and pathogenesis, clinical features, diagnostic methods, and management of these infections by physicians caring for newborn infants. INCIDENCE The common occurrence of neonatal group B streptococcal septicemia and meningitis in several geographically distant centers since 1970 has allowed the relatively precise determination of attack rates for early onset type (≤5 days) infection. Reported attack rates have been surprisingly uniform, varying from 1.3/1,000 to 4.0/1,000 live births (Table 1). Because the attack rates for serious neonatal infections associated with Escherichia coli and other maternally acquired coliform organisms have been constant since 1960, the appearance of the group B Streptococcus resulted in an absolute increase in the incidence of neonatal bacterial disease during the past decade in many hospitals in this country.

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Benign Carotenemia of Infancy

PEDIATRICS ◽

10.1542/peds.31.4.692 ◽

1963 ◽

Vol 31 (4) ◽

pp. 692-692

Author(s):

RICHARD R. O'NEIL

Keyword(s):

Liver Function ◽

Laboratory Finding ◽

Elevated Blood ◽

Number Of Children ◽

The Past ◽

Normal Limits

In the past 2 years I have noted a fair number of children with a yellow discoloration to their skin but with normal color to their sclerae. On the early cases I performed liver function studies, checked the youngsters for diabetes and hypothyroidism, and in all instances found these to be within normal limits. The only positive laboratory finding was a consistently elevated blood carotene. In no instance was any significant illness noted in these youngsters.

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20 Years of Follow-up Alloimmunization and Hemolytic Disease in Newborn: Has Anything Changed in the Field Over the Years?

Klinische Pädiatrie ◽

10.1055/a-1248-2329 ◽

2020 ◽

Vol 232 (06) ◽

pp. 314-320

Author(s):

Marjana Jerkovic Raguz ◽

Zeljka Prce ◽

Vedran Bjelanovic ◽

Ivana Bjelanovic ◽

Sanja Dzida ◽

...

Keyword(s):

Pregnant Women ◽

Preventive Measures ◽

Newborn Infants ◽

Significant Progress ◽

Hemolytic Disease ◽

The West ◽

The Past ◽

Precautionary Measures ◽

In Pregnancy

Abstract Objective of the study is to research the epidemiological aspects of maternal alloimmunization against erythrocyte antigens of fetuses (AB0, Rhesus, Lewis, Kell, Duffy and others) and to identify the most common types of hemolytic disease of the newborn (HDN) in the West Herzegovina region. Study Design The 20-year retrospective epidemiological study includes all pregnant women who had been immunologically tested and newborn treated for HDN. Results The indirect antiglobulin (IAT) detected antibodies against antigens in 545 (1.8%) pregnant women of the 29 663 who were tested at the Department of Transfusion Medicine. During the 20-year-long study 310 (1.0%) newborn with HDN were treated. Our results indicate that 42% (230/545) of the pregnant women had AB0 immunization. The most common form of HDN is AB0 HDN 64% (199/310), whereas RhD HDN was treated in 19% (59/310) of the newborn infants. ETR was performed on 29 (19%) infants, 21 (72.4%) with AB0 HDN, and 7 (26%) with RhD HDN. Conclusion This 20-year-long study concludes that, even though there has been significant progress in the prevention of immunization and proactive treatment of HDN, precautionary measures are still required as is the need for gynecologists and obstetricians to be active. The reasons for this are the non-existence of preventive measures for non-RhD immunization, the irregular immunological screening of RhD positive women in pregnancy in the region encompassed by the study in the past few years. The above raises new questions and recommends further research and monitoring of immunization and HDN treatment worldwide.

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Impact of gene expression profiling-based risk stratification in patients with myeloma receiving initial therapy with lenalidomide and dexamethasone

Blood ◽

10.1182/blood-2011-03-342089 ◽

2011 ◽

Vol 118 (16) ◽

pp. 4359-4362 ◽

Cited By ~ 30

Author(s):

Shaji K. Kumar ◽

Hajime Uno ◽

Susanna J. Jacobus ◽

Scott A. Van Wier ◽

Greg J. Ahmann ◽

...

Keyword(s):

Gene Expression ◽

High Risk ◽

Risk Stratification ◽

Gene Expression Profiling ◽

Expression Profiling ◽

Chromosomal Abnormalities ◽

Initial Therapy ◽

High Risk Group ◽

C Statistic ◽

Risk Patients

Abstract Detection of specific chromosomal abnormalities by FISH and metaphase cytogenetics allows risk stratification in multiple myeloma; however, gene expression profiling (GEP) based signatures may enable more specific risk categorization. We examined the utility of 2 GEP-based risk stratification systems among patients undergoing initial therapy with lenalidomide in the context of a phase 3 trial. Among 45 patients studied at baseline, 7 (16%) and 10 (22%), respectively, were high-risk using the GEP70 and GEP15 signatures. The median overall survival for the GEP70 high-risk group was 19 months versus not reached for the rest (hazard ratio = 14.1). Although the medians were not reached, the GEP15 also predicted a poor outcome among the high-risk patients. The C-statistic for the GEP70, GEP15, and FISH based risk stratification systems was 0.74, 0.7, and 0.7, respectively. Here we demonstrate the prognostic value for GEP risk stratification in a group of patients primarily treated with novel agents. This trial was registered at www.clinicaltrials.gov as #NCT00098475.

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Does supplemental interphase FISH analysis to standard chromosom analysis improve the detection of myelodysplastic syndrome?

Journal of Clinical Oncology ◽

10.1200/jco.2017.35.15_suppl.7060 ◽

2017 ◽

Vol 35 (15_suppl) ◽

pp. 7060-7060 ◽

Cited By ~ 1

Author(s):

Benjamin Joseph Lang ◽

Carol Minyon ◽

Neelam Dhiman ◽

Saurabh Gupta ◽

Stella Wenceslao ◽

...

Keyword(s):

Chromosomal Abnormalities ◽

Statistical Significance ◽

Chromosome Analysis ◽

Diagnostic Value ◽

Fish Analysis ◽

Retrospective Data ◽

Trisomy 8 ◽

Prognostic Information ◽

Monosomy 7 ◽

Interphase Fish

7060 Background: Our objective was to evaluate whether the addition of interphase FISH analysis to standard chromosome analysis (CA) improves the detection of chromosomal abnormalities in patients with work up for myelodysplastic syndromes (MDS), acute myeloid leukemia, and myelodysplastic/myeloproliferative disorders and thereby increases diagnostic and prognostic information. We performed a retrospective data review of all MDS orders between January and September 2015 at our institution and evaluated concurrent tests for discrepancies between CA and FISH results. Our aim was to evaluate best practices with regard to diagnostic test utilization, specifically to assess the diagnostic and prognostic value of FISH in addition to CA for patients with potential and known MDS. Methods: Retrospective data review of concurrent test orders of CA and myelodysplastic FISH panel were reviewed. The myelodysplastic FISH panel consists of screening for monosomy 5/deletion 5q, monosomy 7/deletion 7q, CEP7, trisomy 8, and D20S108 (20q12). The results of CA and FISH results were analyzed using a chi-square test to evaluate statistical significance. Results: A total of 1121 samples were queried, of which 55 were excluded due to inability to perform CA and limited diagnostic value of accompanying standalone FISH data on the 4 markers tested in this study. Analysis of the eligible 1066 samples showed that the standalone CA had significantly higher sensitivity (p < 0.0001) in detecting abnormal cases (N = 247, 23.17%) as compared to standalone FISH analysis (N = 180, 16.89%). Overall, 173 (16.23%) cases were determined to be abnormal by both methods. CA correctly interpreted 1059 of 1066 cases (99.34%).Only 7 samples were interpreted as normal by CA but were found to be abnormal by FISH. This results in overall 0.66% (2.76% of the abnormal cases) of abnormalities that would have been missed by CA only. Conclusions: These findings suggest that FISH studies with 4 markers used in this study provide limited additional utility in cases with a complete CA.

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