A newly recognized autosomal dominant ectodermal dysplasia syndrome: the odonto-tricho-ungual-digital-palmar syndrome.

We report on two brothers, their mother, and 18 other relatives of five generations presenting an apparent newly recognized syndrome involving natal teeth, trichodystrophy, prominent interdigital folds, simian-like hands with transverse palmar creases, and ungual digital dystrophy, inherited as an autosomal dominant trait. In addition, the patients had hypoplasia of the first metacarpal and metatarsal bones and distal phalanges of the toes.

[Body mass index (BMI) in well-nourished Dominican children and adolescents]. / Indice de masa corporal (IMC) en ninos y adolescentes dominicanos bien nutridos.

PIP: The body mass index (BMI) is currently the most accepted indicator of body fat for clinical purposes and is useful in definition of overweight or obesity. Most studies of BMI have been done in the United States, and very few anywhere have focused on evolving BMIs of children or adolescents. Data on weight and height of 2015 girls and 2053 boys 18 and younger in Santo Domingo gathered for a different study were used to calculate BMI. The sample children were evaluated in private clinics and health facilities in Santo Domingo and were all healthy and well nourished. Nearly all of the infants were bottle fed. A table presents the smoothed BMIs for the 3rd, 50th, and 97th percentiles separately for boys and girls at birth, 3, 6, 9, 12, 18, and 24 months, and each year through 18. The values corresponding to 120% and 80% of the median values are also shown. The values tended to rise in the first 9 months of life, especially in males. Values declined slowly between 9 months and 7 years and then progressively increased until 14 or 15 years, when the rate of increase slowed considerably. The pattern of slowing at 14 or 15 years resembles the corresponding pattern observed in skin folds.^ieng

[Prevalence of protozoans in children with acute diarrheal disease]. / Prevalencia de protozoos en ninos con enfermedad diarreica aguda.

PIP: A cross-sectional study was conducted in June-September 1991 in the oral rehydration unit of a children's hospital in Santo Domingo to determine the prevalence of enteric protozoa as a cause of diarrhea. The 100 randomly selected children were aged 3-35 months and had light to moderate dehydration and diarrhea of less than 15 days' duration. The relationship between the presence of protozoans and various risk factors was assessed following the model of a case control study, with children having protozoa infections considered cases and those with diarrhea but not protozoa infections considered controls. 79 of the children were under 1 year old. 36% were malnourished. 60% of the children's families had inadequate garbage disposal facilities, 23% lived in crowded conditions (defined as more than 3 persons per room), 10% drank nonpotable water, 7% lacked piped water, and 2% had no toilet facilities. 66% of the children were found to be positive for protozoa, with 26% positive for Giardia lamblia, 19% for Entamoeba histolytica, 17% for Cryptosporidium, 2% for Dientamoeba fragilis, and 2% for Isospora belli. 6 cases of mixed infection were observed. A significant relationship was found between infection and garbage disposal in the open air and between infection and ingestion of nonpotable water. The high prevalence of protozoa infection is consistent with recent clinical observations. Public health measures should be taken to improve sanitation and personal hygiene.^ieng

[IgM Leptospira antibodies in acute infectious hepatitis cases in children]. / Anticuerpos IgM leptospirosicos en casos de hepatitis infecciosa aguda (HIA) en ninos.

PIP: 50 children under the age of 15 years were studied who had been hospitalized in two hospitals in the Dominican Republic with HIV diagnosed by the presence of biphasic hyperbilirubinemia and elevation of glutamic-pyruvic and glutamic-oxalacetic transaminases. The sera of the patients were examined for the presence of leptospirotic immunoglobulin M (IgM) antibodies by means of the enzymatic immunoassay method (UREASA-ELISA). The Leptospira-positive sera were also investigated for the presence of hepatitis B surface antigen (HBsAg) and for the IgM antibody (ab) of the hepatitis A virus (ab-HAV) by ELISA. 5 cases were positive for IgM Leptospira antibodies (10%), not finding in this percentage the presence of HBsAg; 3 of the 5 Leptospira-positive samples demonstrated the presence of ab-HVA-IgM. Only 2 cases (4%) presented IgM Leptospira antibodies. Out of the 5 cases with IgM antibodies, males predominated (3/5). When compared to negative cases, however, there were more rural elements among them than in negative cases: regarding origins (10% vs. 16%), agricultural workers (40% vs. 20%), contact with cattle and fresh water (80% vs. 40%), and daily contact with humid soil in living quarters (60% vs. 48%). The clinical picture of the 5 positive cases featured myalgia (p = 0.05) and abdominal pain (p = 0.05). The stiffness of neck was relatively more frequent in positive cases (20%) than in negative cases (7%); also, fever (100% vs. 80%), vomiting (60% vs. 22%), headache (80% vs. 56%), constipation (20% vs. 9%), and hepatomegaly (100% vs. 71%). There was clear evidence that leptospirotic infection must be watched and also its association with acute infectious hepatitis.^ieng

[Management of acute diarrheal disease with rice water]. / Manejo de la enfermedad diarreica aguda con agua de arroz.

PIP: A prospective study was conducted in late 1990 of 60 children aged 3-35 months to compare management of light to moderate dehydration from acute diarrhea using World Health Organization oral rehydration solution (ORS) or rice water. Rice water, the liquid obtained by draining rice after cooking, has the nutritional advantage of providing more calories during rehydration than does ORS and the osmolar advantage that its carbohydrates are released gradually in the intestine. 30 children were rehydrated with rice water and 30 with ORS. The rice water was prepared in the manner typical of mothers in the Dominican Republic as revealed by a recent survey. Mildly dehydrated patients were given 50 ml/kg of either rice water or ORS and those with moderate dehydration were given 100 ml/kg. Patients were monitored during the 4-6 hours of treatment and returned 24 hours later for evaluation. Serum sodium levels were measured on admission and after 4 hours of treatment. The two groups of infants were similar in age, sex, duration and severity of diarrhea, and degree of dehydration. The ORS group had 3.07 stools on average during treatment, significantly more than the 1.58 of the rice water group. The consistency more frequently remained watery in the ORS group. The ORS group gained more weight on average, 0.31 kg vs. 0.20 kg in the rice water group, but the difference was not statistically significant. Serum sodium tended to decline slightly in both groups, with the decline of 1.69 in the ORS group and 0.26 in the rice water group not differing significantly. The results suggest that rice water can be used along with solid foods in the maintenance phase after rehydration with ORS in cases of mild to moderate dehydration, but it should not be used alone as a rehydrating solution. Its use should be evaluated in infants under four months old and in severely malnourished children, who may absorb the carbohydrates too slowly to be effective in reducing fecal losses.^ieng

[Beta carotene deficiency in children under five attending Hospital de Ninos Robert Reid Cabral]. / Hipo-B carotinemia en ninos menores de 5 anos que consultan del Hospital de Ninos Robert Reid Cabral.

PIP: Serum B-carotene levels were measured in 52 children under 5 in Santo Domingo and their consumption of carotene-rich foods in the 2 months preceding the survey was assessed. 29 girls and 23 boys were selected at random from an outpatient clinic of a children's hospital in Santo Domingo serving low-income residents. Clinical criteria of the World Health Organization for vitamin A deficiency were utilized. 23 of the children were under 1 year and 29 were 1-4 years old. Consumption of B-carotene in the day preceding the survey was inadequate in 50% of cases, according to dietary information supplied by parents. 33 of the 52 children were considered adequately nourished. 15 were slightly malnourished, 2 were moderately malnourished, and 2 were seriously malnourished. 40 of the children had low levels of B-carotene, defined as under 50 mcg/ml. 19 of the 40 were under 1 year old and 19 were boys. 80% of those with inadequate carotene consumption and 73% with adequate consumption had low serum carotene levels. 100% of malnourished children with inadequate carotene consumption had low levels of carotene, vs. 66.7% of adequately nourished children with inadequate carotene intake. Only 1 of the children, a slightly malnourished girl under 1 year old, showed clinical evidence of vitamin A deficiency. Causal factors in the low level of consumption of carotene-rich foods included early weaning, unavailability of carotene rich foods or their high cost, aversion of the children to them, or cultural beliefs limiting their consumption by small children. 11 cases were considered at risk because they presented low B-carotenes levels, malnutrition, and low consumption of foods rich in carotenes on the day preceding the survey and in the preceding 2 months.^ieng

Particulas antigenicas de rotavirus asociadas a la enfermedad diarreica aguda. / Rotavirus antigenic particles associated with acute diarrheal disease

Se investiga la presencia de rotavirus en las heces de ninos lactantes menores de 6 meses con EDA, mediante la comprobacion de particulas antigenicas de dichos virus por la prueba inmuno-absorvente enzimatica (ELISA) encontrandose un 37% de positivos.El 75% de los casos positivos mostraron sustancias reductoras en las heces sugiriendo un mecanismo patogenico de lisis celular y diarreia osmotica

Las displasias epifisiarias. Estudio de una familia con displasia epifisiaria multiple. / Epiphyseal dysplasias: study of a family with multiple epiphyseal dysplasias

Se presenta una familia en la cual se heredo dominantemente la displasia epifisiaria multiple. Se comenta sobre sus caracteristicas clinicas, radiografias y evolutivas

Septicemia por Yersinia enterolitica. / Yersinia enterocolitica septicemia

Se describen cuatro pacientes septicemicos por Yersinia enterocolitica senalandose los caracteres clinicos, asi como la importancia del germen por su invasividad en la enfermedad diarreica aguda

Evaluacion nutricional a partir de los normales de peso y talla para ninos dominicanos. / Nutritional evaluation from normal weight and height for Dominican children

Se establecen los elementos numericos y graficos para la evaluacion nutricional a partir de las normales para peso y talla de un grupo nacional eutrofico, ejemplificandose su utilidad

Enfermedad diarreica aguda por Campylobacter en Santo Domingo. / Acute diarrheal disease by Campylobacter in Santo Domingo

Se investiga la presencia del Campylobacter en las evacuaciones diarreicas de 150 lactantes de ambos sexos, consultantes del Hospital de Ninos Robert Reid Cabral de Santo Domingo durante los meses de febrero-abril de 1983, encontrandose 21 casos (14%) positivos; 17 C. jejuni y 4 C. coli.La fiebre y el dolor abdominal fueron los sintomas mas significativos al compararse el grupo infectado con el grupo negativo.La infeccion por Campylobacter parece ser mas frecuente que las infecciones por E.coli toxigenica, Shigelas y Salmonelas

Disostosis metafisaria. / Metaphyseal dysostosis

Se presentan dos ninos con disostosis metafisaria cercanos al tipo Schmid, comentandose sobre las caracteristicas clinicas de las discondrogenesis

Excesiva formacion de hueso endosteal con osteomalasia e hiperfosfatasemia alcalina persistente. Presentacion de un caso. / Excessive formation of endosteal bone with osteomalacia and alkalin persistent hyperphosphatasemia. Report of a case

Se comunica un caso de osteomalasia con formacion excesiva de hueso endosteal e hiferfosfatasemia, sugiriendo una variante de hiperfosfatasemia congenita o una forma diferente de enfermedad aparecida por mutacion y potencialmente autosomica dominante

Ausencia congenita de la apofisis odontoidea del axis con anomalias congenitas multiples y retraso psicomotor. / Congenital absence of the odontoid process of the axis with multiple congenital anomalies and psychomotor retardation

Se comunica un caso de retraso psicomotor y multiples anomalias congenitas y donde destaca la ausencia congenita de la apofisis odontoidea del axis

Septicemia y pancreatitis. / Septicemia and pacreatitis

Se estudia la relacion de inflamacion pancreatica y estados septicemicos en ninos lactantes, encontrandose un 15% de pancreatitis en las autopsias de ninos fallecios con septcemia. Asi mismo en el 10% de lactantes septicos se encontraron valores elevados de amilasemia, observandose una posible relacion entre la hiperamilasemia y el pronostico de estos pacientes