Inborn errors of metabolism (IEM) -- an Indian perspective.

The inborn errors of metabolism (IEM) constitute a diverse heterogeneous group of disorders with protean clinical manifestations presenting mainly in the pediatric population. Though individually rare, together they constitute a significant percentage of children seen in genetic and neurology clinics. This review focuses on selected IEMs and highlights those seen in the neonatal period. Data from Indian centers are presented. It also emphasizes principles of management in these difficult disorders in the context of a developing country.

Inborn errors of metabolism (IEM) - an Indian perspective.

The inborn errors of metabolism (IEM) constitute a diverse heterogeneous group of disorders with protean clinical manifestations presenting mainly in the pediatric population. Though individually rare, together they constitute a significant percentage of children seen in genetic and neurology clinics. This review focuses on selected IEMs and highlights those seen in the neonatal period. Data from Indian centers are presented. It also emphasizes principles of management in these difficult disorders in the context of a developing country.

Typhoid hepatitis in children.

Liver involvement is commonly observed in patients with typhoid fever. However, a hepatitis-like picture with fever and jaundice is unusual and infrequently reported in the paediatric literature. Our aim was to characterize the clinical picture, biochemical features, and prognosis of typhoid hepatitis. One hundred cases of typhoid fever (age 0 to 12 years), proven by positive blood cultures to Salmonella typhi, were studied with special reference to hepatic dysfunction. Of these, eight patients were found to have hepatitis during the course of their illness. All had high fever, tender hepatomegaly, elevated serum bilirubin (in the range of 2.5-5.8 mg/dl), and elevated serum alanine transaminase levels (in the range 100-620 IU/l). All the eight patients showed complete clinical and biochemical recovery in response to appropriate antibiotics. The clinical picture of typhoid hepatitis frequently mimics acute viral hepatitis. In tropical areas, the differential diagnosis of a child presenting with fever and jaundice should include typhoid hepatitis.

Why the act?

PIP: All of the 4000 infants who die daily in India have been bottle fed. Most of these infants die from infections which are typically caused by bottle feeding. Considerable research has shown that human breast milk ideally suits babies' needs. Human breast milk protects infants from several infections and allergies, such that the breastfed infant is 25 times less likely than the bottle fed infant to die due to diarrhea and pneumonia. Comparative studies have even found breastfed babies to have higher IQs than bottle fed ones. Detrimental maternity home practices, adverse social factors, and the unethical and aggressive marketing strategy adopted by the manufacturers of infant milk substitutes and feeding bottles are the major factors responsible for the erosion of the practice of breastfeeding. These factors are discussed. The Infant Milk Substitutes, Feeding Bottles, and Infant Foods Act prohibits the advertisement and promotion of feeding bottles and infant milk substitutes by unethical marketing strategies. Violations of the act are punishable by imprisonment and a heavy fine. The act and the need for its passage are discussed.^ieng

AIDS with special reference to pediatric aspect.

The article discusses the disease AIDS, and its increasing incidence all over the world. The alarming rise of HIV infection amongst those tested in India is noted. The projection as made by WHO are mentioned. The various modes of transmission of HIV infection and the high risk groups for each mode are identified. Clinical manifestation of an adult case is followed by that of a pediatric patient in whom the infection is mostly transplacental. The risk of TAA amongst children is highlighted as also the difference between adult and pediatric AIDS. Diagnosis of AIDS, its management, prognosis and prevention are mentioned. The similarity between HIV-1, SIV and HIV-2 induced immunodeficiency is recorded.

PIP: This article briefly defines AIDS, describes the invasive action of HIV-1, discusses world patterns of HIV incidence, modes of infection, infection risk, clinical and laboratory manifestations of AIDS in adults and infants, diagnosis, management, prognosis, and HIV-2. 222,740 AIDS cases from 153 countries had been reported to the World Health Organization by March, 1990. HIV prevalence was estimated to be 5.1 million in 1988; it is projected to grow to 18.3 million by the year 2000.

Prevention of HIV infection.

PIP: As of August 1991, 2167 people in India carried HIV. It is transmitted via sexual contact, the placenta, blood or blood product transfusions, sharing of needles, or any contact of raw tissues with infected blood or other body fluids. It is not transmitted by casual contact, breathing, or eating. Blood is the predominant infection source, yet HIV is also present in cerebrospinal fluid, pus, and other body fluids. 120 degrees Celsius and 2 atmospheric pressure in an autoclave or pressure cooker, dry heat of 170 degrees Celsius for 2 hours, or boiling in water for 20 minutes all destroy HIV. Chlorine can also destroy HIV and is relatively inexpensive and available. The Centre for AIDS Research and Control of the Indian Council of Medical Research advises health workers to quarantine AIDS patients or HIV positive patients in a separate ward identified by a sign (Biohazard--No Admission).. Health workers must wear protective aprons or gowns. When handling blood or other body fluids, they need to wear gloves and rinse them in chemical disinfectant before taking them off, and then once off, soaking them in the same disinfectant for 20 minutes. Health workers who have handled such body fluids must also thoroughly wash their hands with soap and water. Further they should not recap needles and burn the tip of disposable syringes to prevent their reuse. All needles and nondisposable syringes must either be soaked in a disinfectant for 20 minutes or destroyed in an incinerator. Physicians should always weigh the benefits and risks of performing invasive procedures. In the laboratory, technicians must wear full sleeved aprons, eye shields, masks, and gloves when collecting and testing samples. They should use a cotton plug in pipettes and disinfect the work area daily. The Centre also gives advice on special situations including blood spills, blood soiled linen and instruments, and autopsy.^ieng

Polymorphonuclear and monocyte functions in measles.

The depression of immune responses during measles infection has been recognized since the early 20th century. Acute bacterial infections are the most common cause of morbidity and mortality in measles. This study investigated the phagocytic and bactericidal or fungicidal capacities of polymorphonuclear cells (PMN) and monocytes during measles infections. When 14 children with measles were compared with 25 healthy controls, a significant depression in PMN and monocyte function was found. Of these 14 children, seven developed acute bacterial infections. These seven children were compared with 11 children who had acute bacterial infections without measles. It was found that PMN in patients with measles did not achieve an activated state, as expected with acute infections. Serum immunoglobulins were not altered in these patients. These results confirm previous reports of depressed phagocytic and bactericial capacities of PMN in measles, and further document that peripheral blood monocyte functions are also depressed in measles.

Efficacy of three doses of oral polio immunization beginning within the first four days of life.

A study was carried out to test the efficacy of oral polio immunization commencing in the newborn period. In Group A, 47 term newborn infants were given trivalent oral polio vaccine (TOPV) within the first four days, at one month and at two months. In Group B, 21 infants were given TOPV at 3, 4 and 5 months. The seroconversion rates for types 1, 2 and 3 were 87.2, 95.7 and 72.3%, respectively in Group A and 85.7, 95.2 and 66.7%, respectively in Group B after 3 doses of TOPV, the differences being insignificant. Oral polio immunization beginning in the newborn period was as effective as when commenced at 3 months of age. Before immunization, the number of babies with protective titers against polioviruses were significantly more in Group A as compared to Group B. Thus, the later onset of immunization schedule leaves more children susceptible to poliomyelitis during the first 3 months of life.