Renal tubular acidosis in the Silver-Russell syndrome.

Several patients with the Silver-Russell syndrome (SRS) attending our Genetics Clinic were diagnosed as having persistent metabolic acidosis. Since this abnormality has not been reported previously in the SRS, we reexamined 33 SRS patients to evaluate the frequency and type of metabolic acidosis, the clinical and laboratory findings, and the growth pattern in SRS patients with and without metabolic acidosis. Among them, 14 had a consistent decrease in HCO3- levels. Renal studies in acidotic patients showed urine pH of 5.8 and 24 h urine calcium of < 2.4 mg/kg/24 h; serum creatinine, excretion of glucose, and amino acids were normal, as were renal ultrasound and excretory urography findings. These data supported the diagnosis of renal tubular acidosis, probably type II; the patients were treated with oral bicarbonate and acidosis was corrected successfully. Clinical manifestations were similar in acidotic and non-acidotic patients. The nutritional indices at diagnosis and at last evaluation (at least 8 months after diagnosis) were abnormally low in all patients; however, acidotic patients, treated with bicarbonate, showed an improvement of nutritional status particularly in the weight/height index, although the difference between groups after follow-up did not reach statistical significance. We suggest that metabolic acidosis due to renal tubular acidosis, probably type II, may occur in children with the SRS and should be looked for and treated in all patients.

Clinical experience in Mexico with a new oral rehydration solution with lower osmolality.

A clinical trial was conducted to compare the safety and efficacy of a new oral rehydration solution (ORS) with that of the ORS recommended by the World Health Organization (WHO). One hundred thirty infants with dehydration due to acute diarrhea were randomized into two groups: 68 infants received the WHO ORS containing sodium and glucose in a concentration of 90 and 111 mmol/L, respectively, and an osmolality of 311 mosm/kg (ORS-90); 62 infants received an ORS containing sodium and glucose in a concentration of 60 and 90 mmol/L, respectively, with an osmolality of 240 mosm/kg (ORS-60). Treatment failure was noted in seven infants (10.3%) in the ORS-90 group; the causes of failure were high stool output (three cases), persistent vomiting (three cases), and ileus (one case). Only one patient in the ORS-60 group (1.6%) was considered a failure because of high stool output. No significant differences were noted in the serum sodium levels in either group of patients, both in relation to the natremia seen on admittance or that seen after rehydration. A trend was observed toward correction of hypernatremia or hyponatremia with both types of ORS. A similar situation was observed with respect to the variations seen in serum potassium levels. The results from this study suggest that there may be clinical advantages of using an ORS with concentrations of sodium and glucose and a total osmolality lower than that of ORS-90, because of the lower incidence of treatment failures.

[Epidemiological aspects of gastroenteritis dut to Rotavirus]. / Aspectos epidemiológicos de la gastroenteritis producida por rotavirus.

During December 1976 to January-March 1977, 13/53 children less than 5 years of age were admitted with acute enteritis caused by rotaviruses to the Hospital del Niño, DIF. There is already convincing evidence that this new virus will prove to be the most important etiological agent of sporadic acute enteritis in young children.

High frequency of de novo deletions in Mexican Duchenne and Becker muscular dystrophy patients. Implications for genetic counseling.

Duchenne muscular dystrophy (DMD) is the most common lethal hereditary neuromuscular disease. As there is no effective treatment, accurate carrier detection is essential for genetic counseling and prevention. Although linkage analysis has been widely used for this purpose, being an indirect analysis it has several limitations. Using linkage analysis for carrier detection, we found serious limitations, mainly because 82.9% of all proposita were isolated cases. We used quantitative polymerase chain reaction for direct carrier detection in families with exon deletions and found a higher than expected frequency of de novo deletions (62.2%). Furthermore, only 20.7% of the mothers of isolated deletion DMD/Becker muscular dystrophy (BMD) patients were found to be carriers. This result suggests that the Mexican population has a high frequency of de novo DMD mutations.

[Development and evaluation of food supplements for the education, health, and nutrition program]. / Desarrollo y evaluación de suplementos alimenticios para el programa de educación, salud y alimentación.

OBJECTIVE: To develop and evaluate nutritional supplements destined to a program of social assistance. MATERIAL AND METHODS: In the design of the nutritional supplements a series of criteria were considered including nutrient composition, physicochemical properties and feasibility of production and utilization. Final products were initially evaluated to determine the level of acceptance in 40 children, 52 pregnant women and 62 lactating women in Mexico City. A community trial was also carried out to determine acceptance and consumption in 108 children and 128 women from a rural community in the state of Morelos. RESULTS: The specific formulation and technical processes of production of the nutritional supplements are presented. Products proved to be widely accepted, with average scores of 4.11-4.29 for the children's beverage, and 3.98-4.15 for a more viscous pap (range of scores was 1 to 5). Products for women received average scores from 4.75 to 5.70 in pregnant and from 4.8 to 5.4 in lactating women (range of scores from 1 to 7). In the community trial, supplements were very well accepted. Average consumption was > 75% among children and > 98% among women. Mean energy intake from supplements was 244 Kcal/day for women, and for children, 168 Kcal/day with the pap and 147 Kcal/day with the beverage. Consumption was consistent in all cases along the study. CONCLUSIONS: Nine nutritional supplements were developed and evaluated which comply with the necessary nutritional, physicochemical and hygienic characteristics for the target population, besides being relatively simple to prepare, and widely well accepted and consumed.

[Comparative study of 2 oral rehydration solutions containing 60 or 90 mmol/L of sodium and with different osmolalities]. / Estudio comparativo de dos soluciones de hidratación oral conteniendo 60 ó 90 mmol/L de sodio y con diferente osmolalidad.

A total of 186 infants, suffering from acute diarrhea were studied and divided into two groups: 84 children were placed in group A and given the ORS recommended by the World Health Organization which contains sodium and glucose at concentrations of 60 and 90 mmol/L respectively and an osmolality of 311 mOsm/kg (mmol/kg) (ORS-90). Group B included 82 children who received an ORS containing sodium and glucose at concentrations of 60 and 90 mmol/L respectively and with an osmolality of 240 mOsm/kg (mmol/kg) (ORS-60). Seven belonging to group A (8.3%) required intravenous rehydration due to the severity of the diarrhea (three cases), persistent vomiting (three cases) and paralytic ileus (one case), while only two cases belonging to group B (2.5%) required intravenous rehydration due to severe losses through feces (one case) and another due to paralytic ileus (one case). No differences were observed due to the variations in sodium concentrations among either of the groups of patients, whether that be in the natremias when admitted or once rehydrated, with a general tendency towards the correction of the hypernatremia or hyponatremia seen during admittance with both types of ORS. A similar situation was observed with the variations in serum potassium. The results obtained from this study show the different advantages of using an ORS with lesser sodium and glucose concentrations as well as minor osmolality with those from using the solution recommended by the World Health Organization, when a lesser index of failures is observed in the treatment of children with acute diarrhea with oral rehydration therapy. Yet before widely recommending its' use, it should be demonstrated that the new ORS induces lesser losses through feces during the rehydrating period in children dehydrated due to acute diarrhea.

[Oral rehydration solutions with 60 or 90 nmol/L of sodium for infants with acute diarrhea in accord with their nutritional status]. / Soluciones de rehidratación oral con 60 ó 90 mmol/L de sodio en niños con diarrea aguda de acuerdo a su estado nutricional.

A total of 186 infants suffering from dehydration due to acute diarrhea were studied and divided into two groups: 84 children were placed in group A and received the oral rehydration solution (ORS) recommended by the World Health Organization (WHO), know as ORS-90 and those placed in group B were given an ORS with 60 and 90 mmol/L of sodium and glucose, respectively, with an osmolality of 240 mOsm/kg (ORS-60). Seven patients from group A (8.3%) and two from group B (2.5%) could not be orally rehydrated and required intravenous rehydration. The children were divided according to their weight for their age into eutrophics, grade I malnutrition (10 to 25% deficit), grade II (26 to 40% deficit) and grade III (more than 40% deficit). In those patients who evolved favorably, the average rehydration time was 4.5 to 5.3 hours, independently from their nutritional state. In the same way, no important variations were seen in the average sodium and potassium serum levels once the dehydration was corrected, in either of the groups. Yet, both groups showed a persistence in hypokalemia and hyperkalemia seen when admitted, once the dehydration was corrected, demonstrating that the short time needed for the correction of the dehydration was insufficient to completely corrected the changes in serum potassium. Closer studies must be conducted on the hydric balance to adequately demonstrate if the new ORS-60 induces lesser losses through vomiting and feces when compared to the ORS-90 recommended by the WHO.