Sep,23,2001 -- The following is a brief list of the most recent
publications that came to our attention during the last months. To
read the topics or their abstracts, just click the underlined link
These results demonstrate that
in mice without Dhcr7 activity, accumulated 7-dehydrocholesterol
suppresses sterol biosynthesis posttranslationally. This effect might
exacerbate abnormal development in SLOS by increasing the fetal
cholesterol deficiency...
These findings suggest that
chronic excessive ACTH levels resulting from adrenal insufficiency may
stimulate Leydig cells and lead to gonadotropin-independent precocious
puberty in some boys with DAX1 gene mutations...
Morbidity from respiratory
tract infections and feeding difficulties frequently diminished with
increasing age. Aggressive early management is warranted in most cases of
congenital nemaline myopathy...
Conclusion: Under our
model's assumptions, abdominal sonography examinations in children with
BWS represent a reasonable strategy for a cancer screening program. A
cancer screening trial is warranted to determine if, when, and how often
children with BWS should be screened and to determine cost-effectiveness
in clinical practice ...
Given the high frequency of
undiagnosed NF2 in the pediatric cases, a careful search for other
features of this disease is warranted in any child presenting with a
meningioma...
Conclusion: These data
highlight the possible early prenatal origins of some DDs and suggest
that both the number of coded birth defects present and the number of
anatomic systems involved are strongly related to functional
outcomes...
The results indicate that in
intersex children with 46,XY karyotype, CIS occurs in dysgenetic testes in
all cases and is frequently associated with gonadoblastoma. Impaired
organogenesis of sex cords, relative inhibition of testosterone secretion,
and the associated increased secretion of gonadotropins may create a
milieu that induces or is favorable for the formation or maintenance of
neoplastic lesions in dysgenetic testes early in childhood...
With the difficulties in
morphological diagnosis of alveolar rhabdomyosarcoma on increasingly used
small needle biopsy specimens, these data suggest that molecular analysis
for PAX3-FKHR will be a clinically useful tool in treatment stratification
in the future. This hypothesis requires testing in a prospective study.
Variant t(1;13)/PAX7-FKHR appears biologically different, occurring in
younger patients with more localised disease...
Maturity-onset diabetes of the
young is a heterogeneous group of autosomal dominantly inherited,
young-onset [beta]-cell disorders. At least two consecutive generations
are affected with a family member diagnosed before 25 years of age...
Science is one step closer to
unlocking the genetic basis of autism -- the puzzling neurodevelopmental
disorder that effects, in some form, at least one in 500 people...
We have recently encountered a
23-day-old neonate presenting DiGeorge syndrome with facial dysmorphism,
intractable neonatal seizure of tonic-clonic pattern, hypocalcemia,
hypomagnesemia, hypoparathyrodism, and abnormal branching pattern of the
aortic arch...
A genomic DNA investigation
was performed on a 7-year-old boy, who showed symptoms of Duchenne
muscular dystrophy (DMD), congenital adrenal hypoplasia, sensorineural
hearing loss, glycerol kinase deficiency, congenital hypotonia, severe
psychomotor retardation, and hypothyroidism...
We describe a 17-year-old
African American female with known sickle cell disease who presented with
right upper quadrant pain. During her hospitalization it was discovered
that she also had numerous spherocytes on her peripheral smear, and
subsequent osmotic fragility testing confirmed the secondary diagnosis of
hereditary spherocytosis. ...
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