Hemophiliacs--a picture from a developing country: Karnataka, a south Indian state.

Forty cases of hereditary bleeding disorders, who are the members of Karnataka Hemophilia Society (a State Chapter of the Hemophilia Federation of India) were studied to learn their problems. Twenty-four cases were thoroughly investigated including factor assay and in 16 cases the diagnosis was based on classical clinical presentation and pattern of inheritance. There were 16 cases of hemophilia A, 3 cases of hemophilia B, 2 cases of von Willebrand's disease, 1 case of factor XIII deficiency and 2 cases of hereditary afibrinogenemia. The age group varied from 3 months to 36 years; 39 were male. The age of onset of symptoms, type of bleeding, type of joints involved, disabilities experienced by these patients, severity of the disorder, presence of antibodies to factor, presence of HBsAg and HIV, the availability of treatment for these patients, treatment received and the financial burden faced by these patients were studied. Thirty-three cases (82.5%) had joint bleeds, 60% of the patients experienced various type of disabilities, 11 (27.5%) had epistaxis, 10 (25%) had GI bleeds, 5 (12.5%) had dental bleeding, 8 (20%) had haematomas, 3 (7.5%) had umbilical stump bleeds and 19 cases (47.5%) had previous blood transfusions.

Neonatal mechanical ventilation.

OBJECTIVE: This study was undertaken to analyze indications, complications, outcome and the factors influencing neonatal mechanical ventilation. METHODS: Prospective observational study conducted on 102 consecutive newborns, who required mechanical ventilation in a medical college tertiary neonatal care setting. RESULTS: The commonest indication was birth asphyxia (37.3%), followed by hyaline membrane disease (HMD) (31.4%), meconium aspiration syndrome (MAS) (21.2%), septicemia (14.7%) and apnea of prematurity (5.9%). The overall survival rate in our study was 51%. Babies weighing less than 1.5 kg and less than 32 weeks of gestation had survival rates of 30% and 25% respectively. The best outcome among various indications was observed in babies with MAS (63.6%) followed by pneumonia (62.5%) and HMD (53.1%). Babies with birth asphyxia and septicemia had a low survival rate of only 42% and 40% respectively. The overall complication rate in the study was 58.8%. Common complications encountered were septicemia (42%), tube block (36%) and air leak (15%). CONCLUSION: About half (51%) of newborns requiring mechanical ventilations for various indications survived and more than half (58.8%) developed complications. The study also reconfirms that survival rate increases with birth weight and gestational age irrespective of indication.

Sirenomelia with radial dysplasia.

Sirenomelia is a rare anomaly usually associated with other multiple malformations. In this communication the authors report a case of sirenomelia associated with multiple malformations, which include radial hypoplasia also. Though several theories have been proposed regarding the etiology of multiple malformation syndromes in the past, the recent theory of primary developmental defect during blastogenesis holds good in this case.

Kabuki make-up syndrome.

Kabuki make-up syndrome is a rare disorder characterized by mental retardation, postnatal dwarfism and peculiar facies. This condition is believed to be common in Japan, but has been reported from other parts of the world. The authors report a case of this syndrome in an eight-year-old girl, with the characteristic findings from India.

Sydenham's chorea.

OBJECTIVE: To study the clinical profile in patients with Sydenham's chorea. DESIGN: Prospective. SETTING: Medical college and hospital. SUBJECTS: Sixty cases with Sydenham's chorea, between 1988 and 1994, were studied. Of these 36 were girls; the mean age at presentation was 11.1 yr (range 7-16 yr). RESULTS: Female predominance was apparent only after 9 years of age. There was a high familial incidence for both chorea and rheumatic fever. Generalized chorea was seen in 40 and hemichorea in 20 patients. The chorea lasted from 5 to 40 days; 13 patients had recurrent episodes. Gait disturbances, dysarthria and weakness were common. Six patients had co-existing heart disease, 4 had arthritis and one had subcutaneous nodules. A raised ESR and positive ASO titer were seen in 37 and 20 patients respectively. CONCLUSIONS: There was an increased incidence of Sydenham's chorea after 9 years of age in girls possibly suggesting the influence of female sex hormones. A high incidence of neurologic manifestations were noted. Acute phase reactants were raised in almost half the patients. Sodium valproate, whenever used, was effective in controlling the chorea.

Value of single Widal test in the diagnosis of typhoid fever.

The usefulness of single Widal test in the diagnosis of typhoid fever was investigated. The test was done on 50 normal children, 50 children with non typhoidal fevers and 30 culture proved typhoid cases. Twenty one (70%) and nine (30%) of thirty typhoid fever cases had 'O' and 'H' agglutinin titer levels of more than or equal to 1:160, respectively as compared to only 3 (3%) and to 1 (1%) among controls. These differences were significant (p < 0.001). Twenty two (73.3%) out of thirty typhoid fever cases had either an 'O' or 'H' agglutinin titer of more than or equal to 1:160 as compared to only 3 (3%) among controls. An 'O' agglutinin titer of 1:160 had a specificity of 97%, a sensitivity of 70% and an accuracy of 90%. An 'H' agglutinin in titer of 1:160 was had a specificity of 97%, a sensitivity of 30% and an accuracy of 83.1%. Based on the above analysis, 'O' or 'H' titers of 1:160 or more were indicative of typhoid fever. Similarly, when the 2 titers were considered together, either 'O' or 'H' titers of 1:160 or more were suggestive.

Snake venom poisoning: experience with 633 cases.

Snake venom poisoning is a common medical emergency and the epidemiological features vary from region to region. We conducted a prospective study to review the epidemiology, treatment and outcome of snake venom poisoning in central Karnataka. Six hundred and thirty three cases of snake bite, seen in a teaching hospital, upto the age of 18 years, over a period of 8 years from 1985 to 1992 constituted the material for the study. Detailed history with special reference to the type of snake, circumstances leading to the bite and clinical consequences were studied and final outcome was noted. Males (n = 433) were bitten more often than females (n = 200). Two hundred and fifty six (40.4%) cases were in the age range of 11-15 years. The cases were seen during two periods, i.e., Oct, Nov, Dec (n = 210) and Apr, May, June (n = 199). Most (n = 506) were encountered in the lower limbs. Viper was the most common poisonous snake. Five hundred and seventy (90%) cases were from rural area. Coagulation time was prolonged in 371 (58.6%) cases, hemorrhagic syndrome was noticed in 354 (55.9%) cases, neurological involvement in 79 (12.5%) cases. Polyvalent anti snake venom (ASV) was given to 479 cases. Hypersensitivity to ASV was noted in 8 cases. Blood transfusion was given to 33 cases for the management of excessive bleeding. The death rate among snake victims was 5.2% (33 cases). The morbidity and mortality can be reduced substantially by increasing and maintaining confidence in good medical care and providing health education.

Rickets in osteopetrosis--a paradoxical association.

Osteopetrosis is a hereditary bone disease with intense positive balance of body calcium. Infantile variety is often associated with rickets--a paradoxical association. Two siblings with osteopetro rickets are reported in the article. The pathophysiologic mechanism of the paradoxical association has been explained and various management options have been discussed. Both cases were treated with high dose calcitriol and calcium supplements.

Juvenile idiopathic osteoporosis.

Juvenile idiopathic osteoporosis (JIO) is a very rare condition of primary bone demineralisation that presents in childhood. Most pediatricians are unfamiliar with this condition owing to the difficulty in recognition and a long list of differential diagnosis. We report an 8-year-old girl who presented with generalized severe osteoporosis. Diagnosis of JIO was made by excluding other common causes of osteoporosis in this age.

Tuberculin sensitivity study in rural children around Davangere city.

Estimation of tuberculin sensitivity by Mantoux test was done in 3,000 children between 1-14 years from 4 villages adopted for Rural Orientation of Medical Education Programme by JJM Medical College, Davangere. 0.1 mt. of PPD RT 23 with Tween 80 equivalent to 1 TU was given intradermally over the left forearm and the results were read after 72 hours in all the 3,000 children given PPD. 97.4% of total children were BCG vaccinated. 15.4% of BCG vaccinated and 8% of non-BCG vaccinated showed positive tuberculin reaction with an overall positivity of 11.5%. Thus the prevalence rate of tuberculin infection in these rural children was very low.

Skeletal dysplasias in a hospital in southern India.

A hospital based study of skeletal dysplasias was conducted over a period of 2 years in Davangere, Karnataka, in which 169 cases of skeletal dysplasias were studied. One hundred were osteochondrodysplasias and were grouped according to international classification of osteochondrodysplasias. Among the individual cases, osteogenesis imperfecta (13 cases) had the maximum representation. Several cases of rare disorders were also identified. Eighty eight cases of skeletal dysplasias were in the pediatric age group and of these 41 were newborns. The incidence of skeletal dysplasia among newborns was 19.6 per 10,000 deliveries and lethal dysplasias 5.2 per 10,000 deliveries. In 7 cases of skeletal dysplasia, an antenatal diagnosis was possible by ultrasonography.

Normal variants of skin in neonates.

2221 consecutive live births taking place between March 1994 and February 1995 were evaluated for a minimum period of 5 days to note for the occurrence of various normal anatomical variants specially those of skin. Birth weight, gestational age, maternal age, socio-economic status and consanguinity were carefully recorded in all the cases. Mongolian spots (72%), Epstein pearls (43.8%), Milia (26.2%) and Erythema toxicum (25.2%), were the common dermatological variants noted. Maturity of the babies and possibly genetic factors (consanguinity) are important factors in their causation as ordered in our study.

Russell-Silver syndrome: a study of 3 cases.

Russell-Silver syndrome, a syndrome of unknown etiology, is characterized by short stature of prenatal onset, triangular facies, asymmetry, variations in the pattern of sexual development, and other abnormalities, such as cafe-au-lait pigmentation, clinodactyly, and dental and oral abnormalities. We report three cases of Russell-Silver syndrome, all of which had dental anomalies. The clinical features of the syndrome are discussed.

Amniotic band syndrome (ABS): report of a case.

Amniotic band syndrome (ABS) is a rare collection of malformations associated with thread-like strands connecting the amnion and any part of the fetus. A case is reported where the constriction rings and amputation of fingers and the cleft lip/cleft palate constituted the main features of this syndrome.