Multiple Osteochondromatosis (MO, MIM 133700 & 133701), an autosomal dominant O-glycosylation disorder (EXT1/EXT2-CDG), can be associated with a reduction in skeletal growth, bony deformity, ...restricted joint motion, shortened stature and pathogenic variants in two tumor suppressor genes, EXT1 and EXT2. In this work, we report a cross-sectional study including 35 index patients and 20 affected family members. Clinical phenotyping of all 55 affected cases was obtained, but genetic studies were performed only in 35 indexes. Of these, a total of 40% (n = 14) had a family history of MO. Clinical severity scores were class I in 34% (n:18), class II in 24.5% (n:13) and class III in 41.5% (n:22). Pathogenic variants were identified in 83% (29/35) probands. We detected 18 (62%) in EXT1 and 11 (38%) in EXT2. Patients with EXT1 variants showed a height z-score of 1.03 SD lower than those with EXT2 variants and greater clinical severity (II–III vs. I). Interestingly, three patients showed intellectual impairment, two patients showed a dual diagnosis, one Turner Syndrome and one hypochondroplasia. This study improves knowledge of MO, reporting new pathogenic variants and forwarding the worldwide collaboration necessary to promote the inclusion of patients into future biologically based therapeutics.
RESUMEN Introducción. Los síndromes de sobrecrecimiento corporal segmentario son un grupo de enfermedades poco frecuentes caracterizadas por exceso de crecimiento en una o más partes del cuerpo ...relacionadas, en su mayoría, con mutaciones en mosaico en la vía de señalización AKT/PI3K/mTOR y RAS-MAPK. Nuestro objetivo fue analizar las características clínicas y auxológicas, y la calidad de vida relacionada a salud (CVRS) en este grupo de pacientes en un hospital de tercer nivel de atención. Población y métodos. Estudio transversal de una cohorte en seguimiento. Se analizaron edad, sexo, datos sociodemográficos, mediciones antropométricas del segmento afectado y del contralateral, complicaciones, tratamiento, calidad de vida (PedsQL4.0) y dolor. Se calcularon medidas centrales y de dispersión. Se realizó análisis univariado entre calidad de vida y variables incluidas. Resultados. Se incluyeron 50 pacientes, 29 varones. Mediana de edad 9,95 (r 1,44-17,81) años. El diagnóstico más frecuente fue síndrome de sobrecrecimiento relacionado a PIK3CA (PROS) (37/50). Mediana de número de segmentos afectados 2 (r: 1-7) por niño. Cuarenta casos presentaron malformación vascular; 20, capilar. El dolor (24/50) fue la complicación más frecuente. Treinta y un pacientes mostraron asimetría de longitud de miembros inferiores, < 5 cm. La estatura se ubicó entre los centilos 50 y 97 en la mayoría de los niños. Menor CVRS se observó en mujeres, en pacientes con malformación vascular compleja y necesidades básicas insatisfechas (NBI). Conclusiones. PROS fue el diagnóstico más frecuente. El dolor fue una complicación frecuente. La CVRS fue menor en mujeres, pacientes con malformación vascular combinada y NBI.
Introduction. Segmental overgrowth syndromes are a group of rare diseases characterized by overgrowth in one or more parts of the body, mostly related to mosaic mutations in the AKT/PI3K/mTOR and ...RAS- MAPK signaling pathway. Our objective was to analyze the clinical and auxological characteristics and health-related quality of life (HRQoL) in this group of patients at a tertiary care hospital. Population and methods. Cross-sectional study of a follow-up cohort. Age, sex, sociodemographic data, anthropometric measurements of the affected and contralateral segments, complications, treatment, quality of life (PedsQL 4.0), and pain were analyzed. Central and dispersion measures were estimated. A univariate analysis between the quality of life and study variables was done. Results. A total of 50 patients were included; 29 were males. Median age: 9.95 (r: 1.44-17.81) years. The most common diagnosis was PIK3CA-related overgrowth spectrum (PROS) (37/50). The median number of affected segments was 2 (r: 1-7) per patient. Vascular malformations were observed in 40, and capillary malformations, in 20 patients. Pain was the most common complication (24/50). An asymmetry of the lower extremities of < 5 cm was observed in 31 patients. In most children, height was between the 50th and 97th percentiles. A lower HRQoL was observed among girls, patients with complex vascular malformations, and those with unmet basic needs (UBNs). Conclusions. PROS was the most common diagnosis. Pain was the most common complication. HRQoL was lower among girls, patients with combined vascular malformations, and those with UBNs.
INTRODUCTIONIsolated lateralized overgrowth (ILO), formerly referred to as hemihyperplasia/hemihypertrophy, is the overgrowth of one-half of the body to its contralateral in the absence of a ...recognizable pattern of malformations or genetic syndromes. Our objective was to analyze the growth clinical and radiological characteristics of patients with ILO under follow-up in a tertiary care hospital in Argentina between 1993 and 2020. POPULATION AND METHODSRetrospective, observational, single cohort study of patients with ILO. RESULTSA total of 76 cases were included; 41 were males. Median years of follow-up: 5.85 (interquartile range IQR: 2.60-10.96), maximum: 15.76 years. Forty-eight of 76 patients had overgrowth compromising more than 1 body segment (complex ILO). The mean birth weight Z-score of term girls with complex ILO was +0.51 (standard deviation SD: 0.91) (p 0.022). Most children grew between the 50th and 97th centile of the Argentinian population height reference. The median leg length discrepancy was 1.5 cm (IQR: 1.01-2.2) in patients receiving medical treatment and 3.70 cm (IQR: 2.95-3.98 cm) in those who required epiphysiodesis. Progression of discrepancy ≤ 2 cm was observed in 75% of cases. Renal asymmetry ≥ 1 cm was observed in 8 cases; Wilms tumor was noted in 2 cases: mean age at diagnosis: 0.75 years. CONCLUSIONSPrenatal growth of children with ILO is normal, except in girls with complex ILO, in whom it tends to be increased. The average height of boys and girls tends to be located in high centiles with normal growth over time. Embryonal tumor screening is recommended in this group of children.
Hereditary osteochondromatosis is an uncommon, autosomal, dominant condition characterized by the presence of multiple bone growths.
To analyze factors associated with health-related quality of life ...(HRQoL) among children > 2 years and adults receiving follow-up at a tertiary care children's hospital in Argentina.
Cross-sectional study of a follow-up cohort. HRQoL was measured using the Pediatric Quality of Life Inventory® (PedsQL) and the Short Form Health Survey (SF- 36). Sex, age, sociodemographic characteristics, height, radiology, axis alteration and limb function, presence of pain, and malignant change were recorded. Severity was classified as per Pedrini et al. Parametric and non-parametric tests and regression analysis were done.
A total of 66 cases (47 children and 19 adults) were included. Male/female ratio: 1.7/1. Median age: 13.4 years (r: 2.21-55.3). Pain was observed in 30/47 children and in 17/19 adults. Considering the adult bone age (or epiphyseal closure) as the cutoff point to define adult status, 11/37 children and 18/27 adults had a severe disease and 2/38 children and 9/27 adults had short stature. The average value of the physical component of HRQoL in children was 65.9 (SD: 22.5) and, in adults, 27.2 (IQR: 18.5- 34.7). The presence of pain and clinical severity were significantly associated with a lower HRQoL, both in children and adults.
This study found that pain and disease severity had a negative effect on HRQoL.
El objetivo del presente trabajo fue validar la forma y el contenido, mediante un método de consulta a expertos, como es el método Delphi, del instrumento para evaluar proyectos de investigación que ...concursan a beca en la Sociedad Argentina de Pediatría. Material y métodos. Un grupo coordinador seleccionó el panel de expertos en investigación pertenecientes a la Sociedad, diseñó y analizó cada una de las rondas de consulta. Los cuestionarios semiestructurados fueron enviados por correo electrónico en forma personalizada. Se estableció como criterio de consenso un acuerdo entre los expertos > 80 %. En cada ronda, se reformularon los aspectos no consensuados y se agregaron nuevos aspectos sugeridos por los expertos. Se consideró como medida de estabilidad para concluir la consulta cuando más del 70 % de los expertos no modificaron su opinión en rondas sucesivas. Resultados. Participaron del proceso 13 expertos en investigación. Luego de 3 rondas, finalizó el método de consulta. El instrumento consensuado contiene 47 ítems. El 10 % de la puntuación total corresponde a presentación general; el 40 %, a calidad metodológica; el 20 %, a relevancia-aplicabilidad; el 20 %, a factibilidad; y el 10 %, a antecedentes del becario y del director. Conclusiones. Se validó la forma y el contenido, mediante consenso de expertos, del instrumento de evaluación de proyectos de investigación que concursan a becas de investigación en la Sociedad y se lograron criterios objetivos de evaluación.
To analyze risk factors for serious bacterial illness (SBI) in children less than 2 years of age admitted with fever without source.
Children under 2 years admitted at the Pediatric Service of ...Sanatorio Mater Dei from May 2004 to December 2005.
Observational, prospective and longitudinal study.
age, gender, siblings, household viral infections, day care attendance, vaccination, season, laboratory data, Rochester criteria, YIOS scale, antibacterial treatment, length of hospitalization, and final diagnosis. A multiple logistic regression stepwise model was used.
70 out of 201 patients developed SBI, 56 were under 3 months of age. Predominant diagnosis were: urinary tract infection (n: 47), meningitis (n: 11) and bacteremia (n: 9). Predictive factors: white-cells count > 15.000/mm3 (coef 1.05, OR = 2.17, 95% CI 1.13-4.15) and household viral contact (coef-0.79, OR 0.42, CI 0.23-0.77).
Risk factor for SBI was leucocytes count >15.000/mm3. Household viral contact proved being a protective factor.
When height cannot be measured or does not account for actual bone growth in children, due to their condition, it may be estimated using equations based on body segments.
1. To compare observed ...height (OH) and predicted height (PH) based on body segments using the equations of Gauld et al. 2. To analyze its applicability in the estimation and interpretation of body mass index (BMI).
A sample of children and adolescents without musculoskeletal alterations. Height, arm span, length of the ulna, the forearm, the tibia and the leg, weight, and pubertal development were registered. BMI was estimated. Differences and agreements between OH and PH were analyzed using the Bland-Altman method and an intraclass correlation coefficient. For BMI, the absolute prediction error and agreement were estimated using a Kappa coefficient.
Two hundred and twenty children and adolescents aged 6.04-19.1 years were included. The intraclass correlation coefficient between PH and OH was > 0.9 in all equations. In average, PH overestimated OH by less than 2.0 cm, except when using the ulna length (2.6 cm among girls and 3.4 m among boys). The average absolute prediction error for BMI was < 5 %, except for the ulna length, and the Kappa coefficient was > 0.7.
In our sample, the equations of Gauld et al. were adequate to predict height and estimate BMI. The greatest difference between observed height and predicted height was observed when using the ulna length.
The objective of this study was to validate the format and contents of an instrument to assess research projects that apply for a fellowship by the Sociedad Argentina de Pediatría using an expert ...consultation technique, such as the Delphi method.
A coordinating group selected a panel of research experts who were members of the Sociedad Argentina de Pediatría,designed, and analyzed each of the rounds of consultations. Semistructured questionnaires were sent by personalized e-mail. Agreement among experts > 80 % was established as the criterion for consensus. At each round of consultation, non-consensual aspects were reformulated and new aspects suggested by experts were included. A measure of stability to conclude the consultation was determined when more than 70 % of experts sustained their opinion in successive rounds.
Thirteen research experts participated in the process. After 3 rounds, the consultation process was concluded. The consensual instrument contains 47 items. In relation to the total score, 10 % corresponds to the general presentation; 40 %, to methodological quality; 20 %, to relevance and applicability; 20 %, to feasibility; and 10 %, to the fellow's and director's background.
The format and contents of the instrument to assess research projects that apply for a fellowship by the Sociedad Argentina de Pediatría were validated based on expert consensus and objective assessment criteria were established.
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