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1.
Am J Med Genet ; 50(1): 28-31, 1994 Mar 01.
Article in English | MEDLINE | ID: mdl-8160749

ABSTRACT

We report on a boy with excessively wrinkled skin, mild micro/brachycephaly with mild hydrocephalus and slightly small temporal lobes, apparently low-set ears, retro/micrognathia and cleft soft palate (Pierre-Robin anomaly), patent ductus arteriosus and foramen ovale, pulmonary hypoplasia, eventration of the left hemidiaphragm, right cryptorchidism, a sacral dimple, flexion contractures of fingers and knees, and equinovarus deformities of both feet. The infant had a de novo dir dup(1)(pter-->q25::q12-->qter). Partial duplications involving proximal 1q have rarely been reported. Furthermore, this is the first case of proximal duplication of chromosome 1q with unequivocal identification using fluorescence in situ hybridization (FISH) with a chromosome 1 painting probe.


Subject(s)
Abnormalities, Multiple/genetics , Chromosome Aberrations , Chromosome Disorders , Chromosomes, Human, Pair 1 , Trisomy , Humans , In Situ Hybridization, Fluorescence , Infant, Newborn , Male
2.
South Med J ; 77(1): 13-6, 20, 1984 Jan.
Article in English | MEDLINE | ID: mdl-6364370

ABSTRACT

To study the role of formula as a cause of rickets, we randomly assigned 46 very-low-birth-weight (VLBW) infants (less than or equal to 1,500 gm) to one of three groups receiving either Isomil, a soy isolate formula, Similac with Iron, a common milk-based formula, or Similac 24 LBW, a hypercaloric milk-based formula designed for low-birth-weight infants during the first three to four months of life. Postnatal changes in serum calcium, phosphorus, alkaline phosphatase, and albumin were monitored during this study. Radiologic diagnosis of rickets was made in 60% of infants fed Isomil and 5% fed Similac with Iron. Significantly low levels of serum phosphorus and high levels of serum alkaline phosphatase were also seen in infants fed Isomil. The exact cause of the biochemical changes and the high incidence of rickets among infants fed Isomil is not clear. Poor solubility and possibly the decreased bioavailability of minerals in soy isolate formula may be important. We conclude that rickets occurs with high frequency among VLBW infants fed soy isolate, but not milk-based formulas. We suggest that prolonged feeding of soy isolate formulas should be avoided in VLBW infants.


Subject(s)
Infant Food/adverse effects , Infant, Premature, Diseases/etiology , Rickets/etiology , Alkaline Phosphatase/blood , Clinical Trials as Topic , Female , Follow-Up Studies , Humans , Infant, Low Birth Weight , Infant, Newborn , Male , Phosphorus/blood , Prospective Studies , Radiography , Random Allocation , Rickets/diagnostic imaging , Glycine max/adverse effects , Time Factors
5.
South Med J ; 72(10): 1262-4, 1979 Oct.
Article in English | MEDLINE | ID: mdl-482982

ABSTRACT

Respiratory distress is the most frequent symptom initiating referral to neonatal intensive care centers. Previous reports have indicated that 40% of infants with sepsis proved by blood culture had respiratory symptoms as their clinical presentation. In this prospective study there were 145 consecutive infants referred because of respiratory distress. Two-site blood cultures were collated with all other clinical and laboratory data to confirm a diagnosis of septicemia. There was a 4.8% incidence of bacteremia, and clinical and laboratory parameters confirmed septicemia in 3.5% of infants studied. Sixty percent of these infants had group B streptococcal sepsis, and 80% had leukopenia. The low incidence of confirmed septicemia in infants referred because of respiratory distress suggests that antibiotic therapy should not be routine.


Subject(s)
Respiratory Distress Syndrome, Newborn/complications , Sepsis/epidemiology , Humans , Infant, Newborn , Infant, Newborn, Diseases/diagnosis , Infant, Newborn, Diseases/etiology , Sepsis/complications , Sepsis/diagnosis , Streptococcal Infections/complications , Streptococcal Infections/diagnosis , Streptococcal Infections/epidemiology
10.
South Med J ; 70(1): 117-9, 1977 Jan.
Article in English | MEDLINE | ID: mdl-841363

ABSTRACT

The case of a 2 1/2-year-old comatose white boy successfully treated for acute phencyclidine poisoning has been reported with a brief review of symptoms and therapy. Supportive treatment consisted of maintaining intravascular volume; giving diuretics as needed to insure an adequate urinary output; controlling excessive secretions and seizure activity; and providing respiratory support. The patient recovered over a ten-day period of treatment without neurologic or psychologic sequelae.


Subject(s)
Phencyclidine/poisoning , Atropine/therapeutic use , Child, Preschool , Diuretics/therapeutic use , Humans , Kidney Function Tests , Liver Function Tests , Male , Naloxone/therapeutic use , Respiration , Seizures/chemically induced
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