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Cerebral palsy (CP) is a term used to describe a diverse group of chronic, nonprogressive disorders of movement, posture, and tone resulting from a central nervous system insult during early development. The timing of the insult may be prior to, at the time of, or shortly after birth.

Etiology

Many factors, both genetic and acquired, have been postulated as causes of cerebral palsy. These include hypoxic-ischemic injury, structural malformations, vascular disorders, intraventricular or subarachnoid hemorrhage, infections, hormonal disorders, toxins, trauma, metabolic disease, prematurity, and hemolytic disease of the newborn. In recent years, several studies have sought to determine the relative contribution of these and other factors to the total incidence of cerebral palsy.

Perinatal Asphyxia
Historically, asphyxia during labor and delivery has been implicated as a major cause of cerebral palsy. In the last decade, a number of large population studies have revealed that asphyxia probably accounts for only a relatively small proportion of cases.  The rate is approximately 4 times higher (16.7 versus 4.7) if the Apgar score is 0 to 3 at 10 minutes compared with 5 minutes. It is remarkable that even when the Apgar score was less than or equal to 3 for 15 minutes, the majority of infants did not develop cerebral palsy.When the association of CP with a variety of potentially asphyxiating conditions was examined, only a tight nuchal cord was associated with a statistically significant increase in risk. Thus, these three major studies are all in agreement that birth asphyxia causes fewer than 1 in 5, and probably fewer than 1 in 10, of the cases of cerebral Continue reading »
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Introduction

Suspected bacterial meningitis is a medical emergency, and immediate diagnostic steps must be taken to establish the specific cause so that appropriate antimicrobial therapy can be initiated. The mortality rate of untreated bacterial meningitis approaches 100 percent and, even with optimal therapy, morbidity and mortality may occur. Neurologic sequelae are common among survivors.

Self-Care at Home

Meningitis can be a rapidly progressing, life-threatening disease, so immediate medical care is important if meningitis is suspected in a child.

  • While transporting a child to a hospital’s emergency department, supportive care may include the following:
    • Give the correct amount of acetaminophen for fever.
    • Attempt to keep the child comfortable and prevent the child from choking or inhaling any material vomited.
    • Directly observe the child to notice any deterioration in condition.
  • Sometimes, children are sent home from the emergency room if the doctor is confident that the child has viral meningitis. Frequently, a child with viral meningitis can be treated successfully at home by taking acetaminophen  or other pain medications and by drinking plenty of fluids. If a child has viral meningitis, follow-up care is still important.
    • Have the child reevaluated within 1-2 days to be sure that he or she isimproving.
    • Watch for any worsening signs or symptoms and if necessary, return immediately to a medical facility.
  • Avoidance of delay — Antibiotic therapy should be initiated immediately after lumbar Continue reading »
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DiGeorge syndrome (DGS) now understood to be the chromosome 22q11.2 deletion syndrome was originally described as 3 syndromes found on 2 continents.Dr. DiGeorge was the first to provide clinical examples in humans that demonstrated the thymus was involved in immune function.

Pathophysiology

As the name chromosome 22q11.2 deletion syndrome implies, the syndrome is the result of a 2-3 million base pair (Mb) deletion on the long arm of chromosome 22. This area is prone to microdeletion because of the presence of nonallelic, flanking, low-copy repeat DNA sequences in the region, which lead to unequal crossing over between the two chromosome 22s during meiosis.

Frequency

Estimates of the incidence of chromosome 22q11.2 deletion syndrome range from 1 per 2000-4000 in the general population. It is a frequent cause of cleft palate and congenital heart defects.

Sex

Males and females appear to be equally affected.

Age

This is a congenital condition, but age at diagnosis largely depends on the severity and the types of birth defects. Thus, those with more serious cardiac defects, hypocalcemia, or both observed in classic DGS are diagnosed in the neonatal period. Recurrent infections usually present in patients older than 3-6 months. Some individuals without hypocalcemia who have normal immune Continue reading »

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