Pellagra-like condition is xeroderma pigmentosum/Cockayne syndrome complex and niacin confers clinical benefit.

An extremely rare pellagra-like condition has been described, which was partially responsive to niacin and associated with a multisystem involvement. The condition was proposed to represent a novel autosomal recessive entity but the underlying mutation remained unknown for almost three decades. The objective of this study was to identify the causal mutation in the pellagra-like condition and investigate the mechanism by which niacin confers clinical benefit. Autozygosity mapping and exome sequencing were used to identify the causal mutation, and comet assay on patient fibroblasts before and after niacin treatment to assess its effect on DNA damage. We identified a single disease locus that harbors a novel mutation in ERCC5, thus confirming that the condition is in fact xeroderma pigmentosum/Cockayne syndrome (XP/CS) complex. Importantly, we also show that the previously described dermatological response to niacin is consistent with a dramatic protective effect against ultraviolet-induced DNA damage in patient fibroblasts conferred by niacin treatment. Our findings show the power of exome sequencing in reassigning previously described novel clinical entities, and suggest a mechanism for the dermatological response to niacin in patients with XP/CS complex. This raises interesting possibilities about the potential therapeutic use of niacin in XP.

Seroepidemiology of rubella in Saudi Arabia: an adapted vaccination policy.

Rubella haemagglutination antibodies were tested for in sera of 1793 unvaccinated subjects with age ranging from birth to 40 years. This was to assess the immune status of the population and to see the feasibility of introduction and the proper age for rubella vaccination in a Saudi community. Those with titres of greater than or equal to 1:8 were considered as seropositive. The lowest level of antibodies was seen among the 10-18 month age group. All children aged 2-5 years were seropositive as were 75% of the elementary school girls. Only 90-95% of the women of childbearing age were seropositive, however, leaving an immune gap of 5-10%. Unnecessary mass vaccination of young children is discouraged. Rubella vaccine should be given to all final elementary school girls and all women of childbearing age after screening, whenever possible. Special catchment zones are suggested for the latter group. Further nationwide seroepidemiological surveys are recommended for the other parts of the Saudi Kingdom.

Meningitis and septicaemia due to a multiply resistant strain of Haemophilus influenzae type b.

A case of meningitis and septicaemia caused by a multiply resistant strain of Haemophilus influenzae in a Saudi infant aged 7 months is reported. Haemophilus influenzae, resistant to ampicillin and chloramphenicol, was isolated from the cerebrospinal fluid, the blood and throat. The minimum inhibitory concentrations (MIC) for ampicillin and chloramphenicol were 64 mg/l and 16 mg/l respectively. After failure of initial therapy with high doses of ampicillin and chloramphenicol, the child made a full and uneventful recovery when treated with cefotaxime. The implications of isolating such a strain on the policy for treating meningitis in our situation are discussed.

AIDS and HIV infection in Sudanese children: a clinical and epidemiological study.

HIV surveillance and screening programs were established at Khartoum Teaching Hospital (KTH) following the first identified HIV case diagnosed in a hemophiliac boy in November 1987. As of December 1995, 15 cases of symptomatic HIV infection have been observed in Sudanese children (< or = 16 years) at KTH. An HIV seroprevalence rate of 35.7% was documented in a group of 28 patients (adults and children) with various congenital coagulation defects. The postulated mode of transmission was through contaminated factor concentrate. Screening of 52,000 volunteer male blood donors (March, 1987-1989) showed an HIV-seroprevalence rate of 0.05%. Selected groups, including 1118 children admitted to KTH during the period 1985-1995, were screened for HIV infection. These included aseptic meningitis/encephalitis group (n = 52), high-risk group (n = 523), children with various chronic and malignant diseases (n = 181), and chronic blood recipients (n = 330). A group of 32 displaced homeless children who survived on the streets were also included. Overall, an HIV seroprevalence rate of 1.2% was established. Among the 15 children with symptomatic HIV infection, tuberculosis accounted for the majority of admissions (33.3%) followed by admission for recurrent infections (20.0%). Of the 13 children with nonparental mode of HIV transmission, a vertical mode was documented in 61.5%. The pattern of HIV infection in Greater Khartoum is similar to that in North Africa and the Middle East. However, the geographic influence of high endemicity in neighboring sub-Saharan countries might change it in the future.

Prevalence and risk factors of parasitic infections among under-five Sudanese children: a community based study.

A community based prospective study was conducted among randomly selected 300 children aged less than five years selected from three camps of the police force in Khartoum from 534 households representing a total population of 4962 individuals. The study was planned to determine the prevalence and type of parasitic infestations and the related risk factors in that community. From the 300 children, 298 stools specimens were examined: 116 were positive for a single parasite, while samples from 15 children showed ova and cysts for two types of parasites giving a prevalence rate of 44%. The commonest infestations were Giardiasis (21.1%), Taeniasis (10.4%) and Enterobiasis (7.4%). Non pathogenic E. coli, E. histolytica and Taenia saginata were detected in 2.7%, 0.7% and 1.7% of stools specimen respectively. Children aged between 3 years and above were the most affected group and the infection rate was highest among the illiterate, overcrowded and large sized families. Malnourished children comprised 9.4% of the study group but there was no significant association between undernutrition and the overall prevalence of intestinal infestations, although Giardia lamblia significantly affected the undernourished group.

PIP: Infection with intestinal parasites is a common problem among poor, urban populations in African countries and the Middle East. The authors assessed the prevalence of infection with intestinal parasites among children younger than five years old in an urban community in Khartoum and the factors involved. The community-based prospective study was conducted from March 1990 to February 1991. Soldiers and their families comprise a total of 25,400 individuals residing in ten camps in different areas of Khartoum. Each family has a two-room brick house with kitchen, piped water, and a pit latrine. Most families, however, have no refrigerator, so food is prepared daily and kept in covered containers. Drinking water is kept in large clay pots. 298 stool specimens were examined from 300 randomly selected children under five years old from three police force residential camps in Khartoum representing a total population of 4962 individuals. 116 of the samples were positive for a single parasite, while samples from 15 children showed ova and cysts for two types of parasites, giving a prevalence rate of 44%. The most common infections were giardiasis (21.1%), taeniasis (10.4%), and enterobiasis (7.4%). Nonpathogenic E. coli, E. histolytica, and Taenia saginata were detected in 2.7%, 0.7%, and 1.7% of stool specimens, respectively. Children aged 3 years and older were the most affected group, with the infection rate highest among the illiterate, overcrowded, and large-sized families. Malnourished children comprised 9.4% of the study group, but no significant association was found between undernutrition and the overall prevalence of intestinal infestations, although Giardia lamblia significantly affected the undernourished group.

Knowledge, attitudes and practices of mothers regarding diarrhoea among children in a Sudanese rural community.

A survey of knowledge, attitudes and practices of mothers in the rural communities of two villages in Sudan regarding diarrhoeal diseases in children was conducted using a focus group research technique. Seven groups of literate mothers (87 mothers) and 13 groups of illiterate mothers (152 mothers) interviewed comprised 85% of mothers with children under 5 years of age in that community. The study showed that mothers can define and describe diarrhoea, however awareness about the aetiology and the importance of germs in its causation was low. The majority of mothers attributed diarrhoea to teething, milk of pregnant women, hot food and salty water. Less than 40% of mothers identify symptoms and signs of "dehydration" and the need for consultation. Only 10% could relate danger signs to severe dehydration. The ORS use rate was very low (2.1-4.3%). Although awareness about ORS was high (100%), only 25% prepared and used it correctly. However, home made fluids including rice water, custard, pap and tabaladi juice were used by 45% of the mothers. 45% of illiterate mothers stop breast feeding and food during diarrhoea compared to 30% of literate mothers. Harmful practices used in caring for children with diarrhoea included: fumigation (50%), cauterization and removal of teeth buds (45% illiterate mothers, 10% literate), withholding of breast feeding and indiscriminate use of drugs and herbs in 30%.

Outcome of cholelithiasis in Sudanese children with Sickle Cell Anaemia (SCA) after 13 years follow-up.

BACKGROUND: SCA causes chronic haemolysis which is a risk factor for cholelithiasis. OBJECTIVE: To determine the prevalence and outcome of children with SCA complicated with gallstones treated at the sickle cell clinic at the children emergency hospital Khartoum state. METHODS: 261 patients age 4 months to 16 years were studied. AUS examination was carried out. The 30 patients in whom gall stones were detected followed prospectively from June 1996 to September 2009 when a second AUS examination was obtained. RESULTS: Gall stones occurred in 30 patients of whom four were lost to follow up in the first year. The overall prevalence of cholelithiasis was 11.5% and it increased with age. The youngest patient with cholelithiasis was 2 1/2 years old. Haematological variables, bilirubin and sex did not identify a subgroup of patients at higher risk for gallstones. All the patients were asymptomatic at the time of diagnosis. One patient developed symptoms 3years after the diagnosis and he was submitted to surgery. The 25 remaining asymptomatic patients were followed up for 13 years and none of them presented complications related to cholelithiasis during this period. CONCLUSION: The prevalence of cholelithiasis in Sudanese children and adolescents with SCA was significant. The large majority patients remained asymptomatic over a long period.

Cutis laxa, growth retardation and hip dislocation in a Sudanese child.

This case report describes the rare variant of autosomal recessive cutis laxa with bone dystrophy in a Sudanese child. The clinical features include cutis laxa, growth and development retardation, facial dysmorphism, hyperextensible joints, dislocation of the hips and a large umbilical hernia.

Gastroenteritis among children in Riyadh: a prospective analysis of 254 hospital admissions.

A prospective study was undertaken of 254 infants and children admitted with gastroenteritis to the Children's Hospital, Riyadh, Saudi Arabia during the period 1 September 1980 to 1 February 1981. Analysis of data showed that 80% of the admissions were less than one year of age. The peak incidence occurred in the 0-five months age group. 65.4% were on bottle feeding. The incidence of second- and third-degree malnutrition was 38.9%. Marasmus was the commonest type of severe malnutrition seen. Hypernatraemic dehydration occurred in 12.6% of the cases. The parasitic and bacterial isolation rate was 23.8%, salmonella and entero-pathogenic E. coli being the commonest organisms. The mortality rate was 9.1% and was higher among malnourished patients, those with hypernatraemia and in the younger age groups.

PIP: In Riyadh, Saudi Arabia, gastroenteritis is a leading cause of admission to Children's Hospital. A prospective study of 254 children between the ages of 0-5 admitted over a 4-month period for acute diarrhea was undertaken. Information was obtained from parents about each child's history and the children were medically examined and weighed before and after treatment. Blood urea and electrolytes were estimated and stools examined for parasites and bacteria. Almost 85% of the babies were under 1 year old, 46.5% were less than 5 months. 35.6% had normal weights for age; 25.6%, 1st degree malnutrition; 26.4%, 2nd degree and 12.4%, 3rd degree malnutrition. The severely malnourished were all marasmic, except for 6 who had kwashiorkor, alone or with marasmus. 65.4% were bottle fed but only 20% of the mothers used boiling or chemical means of sterilizing the bottles. Isonatremic dehydration accounted for 73% of the dehydrated infants or children, hyponatremia for 14% and hypernatremia for 13%. 11.8% were graded severely dehydrated on admission. Mothers of children with hypotonic dehydration tended to dilute the feeds, while mothers of hypertonic dehydrated children tended to concentrate them. The overall isolation rate for bacteria and parasites was 33.8%, including salmonella, entero-pathogenic E. coli, Giardia lambia and shigella species. 23 children died; mortality was highest in the younger age group, among babies who were bottle fed, among the more severely dehydrated and among those with hypertonic and hypotonic dehydration. The study results are comparable with incidence reported in proximal areas. The high incidence of bottlefeeding and the consequences to infant health as a major cause of morbidity is of concern. The mild cases of dehydration could be treated on an outpatient basis if adequate facilities are accessible to the population.

Morbidity patterns among under-five children in a rural community in Sudan.

This paper presents preliminary findings about morbidity observed in a prospective epidemiological study in a village community near Khartoum during 1977-1979. A total of 293 under-five children in 310 households were followed up for two years. Each household was visited twice monthly and information of the disease pattern was collected. Cough, fever and diarrhoea were found to be the commonest cause of morbidity. The average incidence being 296, 292 and 217 episodes respectively per 100 children per year. Vomiting, skin disease and conjunctivitis occurred at a much lower rate. Measles was observed in 14% of children under one year of age. The incidence of whooping cough was low an no outbreak occurred during the two years of observation. The seasonality of various diseases, their severity and age distribution is discussed and compared over the two year period.

Congenital afibrinogenaemia in a Saudi family: a case report and family study.

Afibrinogenaemia in a female Saudi child is reported. Two siblings died of bleeding. The parents, who are first cousins, a brother and two sisters are asymptomatic heterozygotes with fibrinogen levels of less than 1.5 g/l. The presentation was described and compared to other cases reported.

Pyogenic liver abscess in children: a report of three patients and review of the literature.

Three children with pyogenic liver abscess seen over a period of 2 years are reported. Their immune status was normal and no underlying causes were detected. The clinical picture was characterized by fever, abdominal pain and tender hepatomegaly. Abscesses were solitary in two children and multiple in the third. One child died within 12 h of admission, the other two recovered completely. Recent literature on pyogenic liver abscess is reviewed.

Nutritional vitamin D deficiency rickets in Sudanese children.

Nutritional vitamin D deficiency rickets was established in 41 Sudanese children aged from 3 months to 7 years by clinical, radiological and therapeutic response supported by biochemical investigations. There were 25 boys and 16 girls, of whom 42% were infants of less than 1 year. Forty-seven per cent of rachitic children were underweight. Six infants had early rickets with no bony swellings but had other clinical features and radiological evidence of rickets. One of them, aged 3 months, presented with hypocalcaemic convulsions. Three children had icthyosis. Serum alkaline phosphatase was raised in 75%, hypophosphataemia occurred in 68% and hypocalcaemia in 54% of patients. Anaemia, mostly hypochromic, was detected in 79%. Possible causes were poor socio-economic background, inadequate dietary intake in both mothers and children, prolonged breastfeeding, prematurity, limited sun exposure and type of residence. Nutritional vitamin D deficiency rickets should be looked for in Sudanese children, especially in preterms and in those living in flats.

Drug metabolism in malnourished children: a study with antipyrine.

The effect of malnutrition on hepatic drug-metabolising enzymes was investigated in 8 Sudanese children aged between 9 and 12.5 years using as a model the drug antipyrine. Antipyrine half-life and clearance were measured in the malnourished state and after 3 or 4 weeks of good nutrition. Associated with the improvement in nutritional state was a shortening of antipyrine half-life and an increase in its clearance. There was also a rise in serum triiodothyronine. It is concluded that poor nutrition is associated with impairment of drug metabolic capacity and that many factors are responsible.

Cutis laxa, intrauterine growth retardation, and bilateral dislocation of the hips: a report of five cases.

Five infants and children with Cutis Laxa, growth retardation and bilateral dislocation of the hips occurring in three families in Saudi Arabia are described. Their presentations are compared to previously described cases. The children are the outcome of highly consanguinous marriages. The mode of inheritance is most probably autosomal recessive.

Transcutaneous bilirubin measurement in evaluating neonatal jaundice among Saudi newborns.

Transcutaneous bilirubin measurements, using the Minolta transcutaneous bilirubinometer (TcB), were performed in 68 full-term, healthy Saudi infants. Infants who had exchange transfusion and those under phototherapy were excluded. One hundred and twenty measurements were obtained and compared with serum bilirubin levels measured by the American Optics (A.O.) bilirubinometer. The serum bilirubin range was 3.8-18.4 mg/dl. The results showed that the TcB index correlates well with the serum bilirubin measurement: the regression analysis was: r = 0.878, y = 10.78 + 0.909 x, P less than 0.001. However, the regression line showed that at a serum bilirubin level above 12.9 mg/dl the sensitivity of the TcB was 69% and the specificity 92%, while its positive and negative predictive values were 58% and 95% respectively. There was a fair amount of variability around the regression line which may lead to significant errors in clinical decision-making. Thus, the TcB at present has grave limitations which restrict its usefulness in the newborn.

Rehabilitation of the expanded programme on immunization in Sudan following a poliomyelitis outbreak.

In 1993 a large outbreak of paralytic poliomyelitis occurred in Sudan as a result of an accumulation of large numbers of susceptible children that was accelerated by faltering immunization services. The extent of the outbreak led to the rapid rehabilitation of Sudan's Expanded Programme on Immunization (EPI); the government began financing vaccine purchase, operational aspects of EPI were decentralized, vaccine delivery was changed from a mobile to a fixed-site strategy, a solar cold chain network was installed, inservice training was resuscitated, and social mobilization was enhanced. National immunization days (NIDs) for poliomyelitis eradication were conducted throughout the country, including the southern states during a cease fire in areas of conflict. Measles immunization coverage was increased by offering measles vaccine during the second round of NIDs and subsequently through routine immunization services. Supplemental tetanus toxoid immunization of women of child-bearing age began in three provinces at high risk for neonatal tetanus. From 1994 to 1996 reported immunization coverage increased and the incidence of all EPI target diseases fell. Trends in coverage, disease incidence, financing, and the implementation of WHO-recommended disease-control strategies suggest that more sustainable immunization services have been re-established in Sudan.

PIP: A large outbreak of paralytic poliomyelitis in 1993 in the Sudan prompted rapid rehabilitation of Sudan's Expanded Program on Immunization (EPI). A World Health Organization team visited Sudan in 1993, 1995, and 1996 to review such efforts and their impact. Measures taken to eradicate poliomyelitis, control measles, and eliminate neonatal tetanus included government financing of vaccine purchase, decentralization of EPI operations, a shift from a mobile to a less expensive fixed-site vaccine delivery strategy, installation of a solar cold chain network, resumption of managerial in-service training, and social mobilization. National immunization days were conducted in 1994, 1996, and 1997 throughout the country (during a cease fire in the southern areas). From 1993-96, reported infant immunization coverage increased for all antigens, with a concomitant decrease in the incidence of EPI target diseases. National coverage for the third dose of diphtheria-tetanus-pertussis increased from 51% in 1993 to 79% in 1996, while the proportion of immunizations delivered at fixed sites rose from 35% to 70%. By 1996, 19 of Sudan's 26 states were financing some of the operational costs for EPI.

The wrinkly skin syndrome: a report of two siblings from Saudi Arabia.

A brother and sister born to a Saudi couple showed aging appearance, wrinkled skin over the hands and feet, inelastic skin, prominent veins over the hands, and other musculoskeletal and connective tissue manifestations. Both children were small for their age and had congenital dislocation of the hips. The paper describes the main manifestations and compares them with the previously described two families.