Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 4 de 4
Filter
Add more filters










Database
Language
Publication year range
1.
Am J Med Genet ; 85(2): 185-8, 1999 Jul 16.
Article in English | MEDLINE | ID: mdl-10406675

ABSTRACT

We describe a girl with physical anomalies, accelerated skeletal maturation, failure to thrive, and respiratory difficulties consistent with a diagnosis of Marshall-Smith syndrome (MSS). Chromosome analysis showed an inverted duplication of chromosome 2 [46,XX,inv dup(2)(q37q32) de novo] identified by G banding and confirmed by FISH. Several cases of trisomy 2q3 have been reported and established a syndrome, but the present case is the first to be associated with accelerated skeletal maturation and a clinical picture resembling MSS. This raises the possibility that the cause of MSS involves the q3 region of chromosome 2. Few reports of MSS include study of the karyotype, although the chromosomes were apparently normal in those cases where they have been examined. We suggest that karyotyping be undertaken with particular attention to the 2q3 region in patients with suspected MSS. It also would be prudent to assess bone age in all children with trisomy 2q.


Subject(s)
Abnormalities, Multiple/genetics , Bone and Bones/abnormalities , Chromosomes, Human, Pair 2 , Failure to Thrive/genetics , Respiratory Tract Diseases/genetics , Trisomy , Age Determination by Skeleton , Diagnosis, Differential , Facies , Female , Gene Duplication , Hand Deformities, Congenital/diagnostic imaging , Hand Deformities, Congenital/genetics , Humans , In Situ Hybridization, Fluorescence , Infant , Karyotyping , Phenotype , Syndrome
2.
J Hosp Infect ; 23(3): 211-22, 1993 Mar.
Article in English | MEDLINE | ID: mdl-8099095

ABSTRACT

An outbreak of methicillin-resistant Staphylococcus aureus (MRSA) occurred in a neonatal intensive care unit (NICU) over a period of 2 months involving 16 babies, mainly of low birth weight. Arbitrary grouping of the isolates showed that there were apparently three different strains involved in the outbreak, as determined only by antibiogram. Twenty-three out of 27 isolates were allocated to 'group 1' based on antibiotic sensitivity pattern. Control of spread of the MRSA in the unit was difficult because of some technical constraints but eradication was finally achieved by cohort nursing and treatment with topical mupirocin in paraffin base. All MRSA isolates were resistant to gentamicin, erythromycin, tetracycline and at least four other antibiotics but sensitive to vancomycin. Overcrowding, limited space, inadequate cleaning of the equipment and initial lack of correct attitude to scrupulous handwashing techniques, all appeared to contribute to the ease of spread of the strains involved.


Subject(s)
Disease Outbreaks , Intensive Care Units, Neonatal , Methicillin Resistance , Staphylococcal Infections/epidemiology , Colony Count, Microbial , Drug Resistance, Microbial , Humans , Infant, Low Birth Weight , Infant, Newborn , Infection Control/methods , Saudi Arabia/epidemiology , Species Specificity , Staphylococcal Infections/microbiology , Staphylococcus aureus/drug effects , Staphylococcus aureus/isolation & purification
3.
Ann Saudi Med ; 11(3): 297-301, 1991 May.
Article in English | MEDLINE | ID: mdl-17588107

ABSTRACT

Babies admitted to a neonatal intensive care unit in whom acute renal failure developed were studied prospectively to determine the etiology, course, and outcome of the disorder, as well as the reliability of renal indices in distinguishing intrinsic from prerenal renal failure. The incidence of neonatal acute renal failure was 3.6% (22/603). The most frequent causes were hypotension (86%), respiratory distress syndrome (41%), sepsis (32%), and asphyxia (27%). Half of the patients were born at less than 32 weeks' gestation and had a birth weight of less than 1500 gm. There was intrinsic renal failure in 15 neonates and prerenal failure in seven. Renal indices (urine-to-plasma ratio of osmolality, fractional excretion of sodium, and renal failure index) were not reliable in differentiating between intrinsix or prerenal failure. Mortality from renal failure was high at 77%. Survivors of neonatal acute renal failure who had no underlying congenital anomalies of the urinary tract did not appear to exhibit residual renal impairment during follow-up evaluation. It is important to identify those clinical indices that can be used in determining the diagnosis and prognosis of acute renal failure in neonates, particularly in very premature, low-birth-weight babies.

4.
Ann Trop Paediatr ; 9(1): 59-61, 1989 Mar.
Article in English | MEDLINE | ID: mdl-2471447

ABSTRACT

A total of 155 transcutaneous bilirubin (TcB) measurements were performed on 155 healthy full-term Saudi newborns with neonatal jaundice using the Minolta/Airshield Jaundice Meter applied to the forehead. The TcB measurements correlated well with the serum bilirubin determinations (r = 0.817). The regression equation for our population was y = 13.24 + 0.69x. At a cut-off TcB index of 21 the machine could identify infants with serum bilirubin levels of 12.5 mg/dl or more with a sensitivity of 74% and a specificity of 90%. The positive and negative predictive values were 78% and 88%, respectively. We think at that action line the machine is a useful screening tool that can identify children with significant jaundice who will need serum bilirubin determination.


Subject(s)
Bilirubin/analysis , Jaundice, Neonatal/diagnosis , Skin , Equipment and Supplies , Evaluation Studies as Topic , Humans , Infant, Newborn , Jaundice, Neonatal/blood , Saudi Arabia
SELECTION OF CITATIONS
SEARCH DETAIL
...