Gene/Protein Disease Symptom Drug Enzyme Compound
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Radiologically diagnosed rickets was found to be common in children of the poorer classes in Tehran. It was frequently associated with gastroenteritis or bronchopneumonia and a large proportion of the children were severely underweight for their age. In children below the age of 1 year malnutrition tended to mask the signs of rickets. Convulsions were much less frequent in the malnourished children; the concentration of calcium in the serum was higher and that of alkaline phosphatase was lower than in those who were well nourished. Biochemistry is of little value in the diagnosis of rickets in the presence of malnutrition.
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PMID:Rickets in Tehran. Study of 200 cases. 112 45

Vitiligo is a common dermatological manifestation of obscure etiology, affecting mostly healthy people. It has also been observed in association with sunburn, various chemicals, repeated friction, physical trauma, and numerous systemic and cutaneous diseases. However, white discoloration of teeth in these patients has not yet been reported. We describe a 14-year-old boy with vitiligo who presented with white patches on the surface of his upper, central incisors. Medical history and laboratory tests excluded those complications documented in the literature known to be associated with white discoloration of the teeth, such as disturbances of calcium and phosphate metabolism (as in vitamin D refractory rickets), hypoparathyroidism, gastroenteritis, celiac disease, premature birth, hyperplasia of the enamel and prolonged ingestion during tooth formation of water containing excessive fluoride.
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PMID:[Vitiligo and white dental discoloration]. 156 67

To focus attention on the problem of infant mortality in Lebanon, data were compiled on infant mortality from 1978 to 1986 at the American University of Beirut Medical Center. Causes of death are analyzed for 602 males and 398 females. 54.9% deaths occurred at 1 month of age and 77.4% died within the 1st year. Autopsies were performed on .7%. 37.7% of all neonatal deaths were due to neonatal diseases such as hyaline membrane disease, asphyxia neonatorum, immaturity, necrotizing enterocolitis, hemorrhage, hemolysis, meconium aspiration, and kernicterus. Better prenatal care would reduce this group, or the administration of corticosteroids to the mother 24-48 hours prior to delivery, as well as rapid resuscitation at birth and prevention of the 5 curses: hypoxemia, hypoglycemia, hypothermia, hypotension, and acidosis. Although unavailable in Lebanon, administration of surfactants through an endotracheal tube would also help. Infections constitute 25.1% of deaths; many are preventable through adequate public health measures and strict personal hygiene, i.e., diseases such as sepsis, pneumonia, meningitis, gastroenteritis, hepatitis, encephalitis, and 1-2 cases of the following: diphtheria, measles, peritonitis, tetanus, tuberculosis, cytomegalis inclusion, herpes, parathyphoid, pertussis, poliomyelitis, and shigellosis. Congenital diseases were 21.6%. In utero diagnosis could prevent some diseases and in utero treatment is possible for hydrocephalus and hydronephrosis. Screening programs postnatally could lead to treatment. 5.9% were malignancies such as leukemia, lymphoma, brain tumors, histocytosis, Wilm's tumor, Ewing sarcoma, and Hodgkin's disease. Early diagnosis is critical if mortality is to be reduced in this group, but medical advances are still needed. 2.9% are miscellaneous diseases such as poisoning, rheumatic diseases, marasmus, Reye's syndrome, nephrosis, rickets, and epilepsy. Most of these diseases are preventable, except for rheumatic inflammation of the heart. Recommended necessary steps to reduce infant mortality are: prenatal care, diagnosis and screening, intrauterine surgery; resuscitation and intensive care centers with modern equipment and trained personnel; national vaccination and screening programs; adequate public health measures and hygiene; parental education; and well-equipped hospitals to serve all regardless of income level.
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PMID:Pediatric mortality: an avoidable tragedy. 251 28

A prospective study of 90 children admitted to Ethio-Swedish Children's Hospital in Addis Ababa, Ethiopia, in 1992 with severe protein-energy malnutrition assessed the clinical profile and patterns of infection. The children, who ranged in age from 4 to 60 months, suffered from marasmus (49%), marasmic-kwashiorkor (42%), and kwashiorkor (19%). Septicemia, the most alarming complication of severe protein-energy malnutrition, was present in 32 children (36%); gram-negative enteric bacilli were the most common bacterial pathogen. 57 children (63%) had pneumonia and 23 (26%) had tuberculosis. Another 33 (37%) had a urinary tract infection. 17 children (19%) presented with diarrhea, 33 (37%) had clinical and radiologic evidence of rickets, and 15 (17%) had clinical evidence of vitamin A deficiency. There were 29 deaths in this series (from septicemia, gastroenteritis, pneumonia, and disseminated tuberculosis), for a case fatality rate of 32%. Mortality was significantly greater among children with a total serum protein of 5 gm% or less and those with systemic infection. This profile differs from those recorded in other developing countries, suggesting that severe protein-energy malnutrition has clinical and geographic heterogeneity.
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PMID:Clinical profile and pattern of infection in Ethiopian children with severe protein-energy malnutrition. 806 77

In most developing countries, nutritional rickets is a major health problem. The aim of this study was to explore the magnitude of nutritional rickets among Saudi infants, and the various clinical presentations, as well as to address the possible operating risk factors behind the disease. We carried out a retrospective study at King Abdulaziz Medical City-King Fahad National Guard Hospital in Riyadh, Saudi Arabia. The records of Saudi infants under the age of 14 months over a 10-year period (between January 1990 and January 2000) were reviewed. Infor-mation collected included age, sex, clinical presentations, biochemical, radiological findings, infant nutrition, presence of other nutritional deficiencies and exposure to sunlight. There were 283 infants diagnosed with nutritional rickets due to Vitamin D deficiency (67% males) who were between 6 and 14 months of age. Among the total, 70% were exclusively breast-fed, and 23% were breast-fed until the age of 1 year. The most frequent clinical presentation was hypo-calcemic convulsions (34%) followed by chest infections (33%) and gastroenteritis (25%). In conclusion, nutritional rickets is still prevalent in Saudi Arabia with the primary etiology being vitamin D deficiency. Therefore we recommend that every infant, who is exclusively on breast-feeding, has routine supplement of vitamin D in the range of 200 IU/day (alone or as apart of multivitamin), started soon after birth until the time of weaning.
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PMID:Epidemiology of nutritional rickets in children. 1923 15

In February 1985, a Canadian medical relief team was established in a northern Ethiopia refugee camp. Volunteer physicians, nurses, and support staff have worked in the camp since February 1985. Their activities range from supervising intensive feeding programs, to controlling infections, to educating patients. About 300-400 patients visit the outpatient clinics daily. Malnutrition, vitamin A and B deficiencies, scurvy, rickets, gastroenteritis, malaria, leprosy, tuberculosis, pneumonia, trachoma and tetanus are commonly seen. The continuing presence of the medical team depends on donations and volunteer participation.
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PMID:A canadian medical team in ethiopia. 2127 28