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Biomedical subjects

Abbas Hyderi

Publications and source records attributed to Abbas Hyderi.

5 recordsLinked to original sources
PubMed2006

Myotonia congenita--a successful response to carbamazepine.

Myotonia congenita is a rare disease of skeletal muscle characterized by painless myotonia, generalized muscular hypertrophy and a non-progressive course. We report a 10-year-old girl with myotonia, "Herculean appearance" and electromyographic confirmation of myotonic discharges. There was a dramatic response to carbamazepine. The aim of this report is to make the readers aware of this entity which can be easily controlled with medication and also prevented by genetic counseling.

Carbamazepine↗
PubMed2006

De novo isochromosome 18p in a female dysmorphic child.

Isochromosome 18p results in tetrasomy 18p. Most of the i(18p) cases reported so far in the literature are sporadic due to de novo formation, while familial and mosaic cases are infrequent. It is a rare chromosomal abnormality, occurring once in every 140,000 livebirths, affecting males and females equally. In the present investigation, we report a de novo i(18p) in a female dysmorphic child. The small metacentric marker chromosome was confirmed as i(18p) in the proband by cytogenetic and FISH analysis [47,XX+i(18p)]. Cytogenetic investigations in the family members revealed normal chromosome numbers, indicating the case as a de novo event of i(18p) formation. It could be due to the somewhat advanced maternal age (32 years) and/or expression of recessive genes in the proband, who is the progeny of consanguineous marriage, which could have led to misdivision and nondisjunction of chromosome 18 in meiosis I, followed by failure in the chromatid separation of 18p in meiosis II and by inverted duplication.

Abnormalities, Multiple↗
PubMed2006

Clinical inquiries: What are safe sleeping arrangements for infants?

Non-supine sleep position and parental tobacco use are known risk factors for sudden infant death syndrome (SIDS). Recent studies show that co-sleeping (bed sharing) slightly increases the overall risk of SIDS (strength of recommendation [SOR]: B) and is greatest for infants less than 11 weeks old (SOR: B). The relationship between bed sharing and SIDS is strongest for infants whose parents use tobacco (SOR: B). Infants who sleep in a room separate from their caregivers or on a couch or an armchair are at increased risk for SIDS (SOR: B). Using bedding accessories such as duvets or pillows may increase an infant's risk of SIDS (SOR: B).

Beds↗