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Spondylocarpotarsal synostosis syndrome (SCT) is a very rare skeletal dysplasia characterized by vertebral, carpal, and tarsal fusion; growth retardation; and mild dysmorphic facial features. Variants in FLNB, MYH3, and RFLNA have been implicated in this dysplasia. We report the clinical and radiological follow-up of seven SCT pediatric cases associated with biallelic FLNB variants, from four Argentinian families. The seven cases share previously described facial characteristics: round facies, large eyes, and wide based nose; all of them had variable height deficit, in one case noted early in life. Other findings included clinodactyly, joint limitation without bone fusion, neurosensorial hearing loss, and ophthalmological compromise. All cases presented with spinal fusion with variable severity and location, carpal bones coalition, and also delay in carpal ossification. The heterozygous carrier parents had normal height values to -2.5 score standard deviation, without skeletal defects detected. Three different FLNB variants, one nonsense and two frameshift, were detected, all of which were predicted to result in a truncated protein or are degraded by nonsense mediated decay. All cases had at least one copy of the nonsense variant, c.1128C> G; p. (Tyr376*), suggesting the presence of a common ancestor.

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Background: In December 2020, Sputnik V was incorporated to the National COVID-19 Immunization Plan in Argentina. Studies had shown 98% of antibody response rate. To date, data on immunogenicity and antibody persistence in Argentina are scarce.The objective was to assess humoral immune response after two doses of Sputnik V in Health Care Workers (HCWs) at the Ricardo Gutierrez Children's Hospital (RGCH). Methods: A prospective, cohort study in HCWs immunized with two doses of Sputnik V between February and March 2021. The following variables were assessed: age, gender, risk factors for severe COVID-19 or mortality, immunosuppressive therapy and history of SARS-CoV-2. Blood samples were drawn on the day of the first dose, 28 days and 180 days after the second. Anti-Spike IgG was measured using an ELISA assay. Differences in immune response were evaluated according to study variables. Comparison analyses between groups with or without history of infection were performed, with T-test and ANOVA or Mann-Whitney tests. For each subject, we compared baseline values with 28 days and 180 days after the second vaccine.STATA version 14 and R Sofware were used for data analyses. Results: We included 528 individuals, mean age 41.5 years, 82.9% female, 14.4% (76/528) reported previous SARS-CoV-2 infection.All subjects developed antibodies post-vaccination. At day 28, concentrations were significantly higher in previously infected than naïve subjects (p < 0.001) with no differences according to age, gender and comorbidities.At day 180, 17% (95% CI 13.17-21.53) of naïve subjects were negative. Antibody concentrations decreased significantly in all subjects except in those who reported SARS-CoV-2 infection after vaccination (n = 31). This last group had significantly higher antibody concentrations. Conclusion: This study assessed immune response to a new COVID-19 vaccine in real life in a cohort of subjects. Antibody concentrations varied according to history of SARS-COV-2 infection and decreased over time.

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PURPOSE: Patients with hereditary hypophosphatemic rickets are short and disproportionate and very little information is available on segmental growth, but the body disproportion at adulthood leads us to think that the growth velocity of legs is slower. METHODS: A total of 96 children were included and molecular testing was carried out in 42. Children who reached adult height were classified into two groups according to their compliance to conventional treatment (phosphate supplement and calcitriol). Individual growth records of height and sitting height/height were plotted using Argentine reference data in 96 children and growth curves were estimated by fitting Preece-Baines Model 1 in 19 of the children. RESULTS: Molecular testing revealed sequence deleterious alterations or large deletions in 36/42 patients. During childhood, 76% of children grew below - 1.88 standard deviation score (SDS) and 97% had body disproportion. During adolescence, the mean peak height velocity for the good and poor compliance to treatment groups was 7.8 (0.6) and 5.4 (0.4) cm/year in boys and 7.0 (0.7) and 5.2 (0.8) cm/year in girls, respectively. At adulthood, the median sitting height/height ratio was 2.32 and 6.21 SDS for the good and poor compliance to treatment groups, respectively. The mean pubertal growth spurt of the trunk was -0.8 (1.4) SDS, with a short pubertal growth spurt of - 1.8 (0.4) SDS for limbs in the good compliance group. Median adult height in 13/29 males and 30/67 females was -4.56 and -3.16 SDS, respectively. CONCLUSION: For all patients the growth spurt was slower, secondary to a short growth spurt of limbs, reaching a short adult height with body disproportion that was more prominent in the poor compliance group.

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Background: Children with achondroplasia (ACH) appear to lack a pubertal growth spurt in height.Aim To explore the growth spurt in height and its segments sitting height and leg length, in a large sample of ACH cases using growth curve modelling.Subjects and methods: Height and sitting height were measured longitudinally in ACH children, and the data were analysed using the SITAR (SuperImposition by Translation and Rotation) growth model, which estimates a mean growth curve and random effects for individuals defining differences in size, pubertal timing and intensity.Results: Out of 402 ACH children, 85 boys and 75 girls aged 7-20 years had respectively 529 and 454 measurements of height and sitting height, with leg length calculated by difference. SITAR analysis identified peaks in mean height velocity at 13.3 and 11.3 years in boys and girls, with peak velocities of 4.3 and 4.4 cm/year. Mean peak velocity for sitting height was 3.0 cm/year, but leg length showed no peak. The SITAR models explained 92% to 99% of the cross-sectional variance.Conclusion: ACH children do experience a growth spurt in puberty, but only half that of control children. The spurt is due entirely to sitting height, with no leg length spurt.

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PURPOSE: To determine whether brachytherapy with a single hypofractionated dose of 7 Gy provides the similar vaginal-cuff relapses and safety profile in terms of complications compared to schedules of 2 or 3 fractions of lower doses in patients treated previously with external beam irradiation in postoperative endometrial carcinoma. METHODS/MATERIAL: From June 2003 to December 2016, 325 patients were treated with 3 different schedules of high-dose-rate brachytherapy after external beam irradiation for postoperative endometrial carcinoma. The patients were divided into 3 groups: Group-1: 125 patients were treated with 3 fractions of 4-6 Gy per fraction (3 fractions/week) between 2003 and 2008; Group-2: 93 patients were treated with 2 consecutive daily fractions of 5-6 Gy between 2008 and 2011; Group-3: 107 patients received a single fraction of 7 Gy between 2011 and 2016. Bladder and rectum complications were assessed using RTOG scores and with the objective scores of LENT-SOMA for the vagina. STATISTICS: the chi-square test. RESULTS: The mean follow-up of Groups 1, 2 and 3 was 95, 67 and 51 months, respectively. Three patients in Group-1, 2 in Group-2, 1 in Group-3 developed vaginal-cuff relapse (p = 0.68). No differences were found in late toxicity among the three groups. CONCLUSIONS: One single dose of 7 Gy is safe and effective and may be the best treatment schedule with a similar incidence of vaginal-cuff relapses, complications and patient comfort with less hospital attendance.

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Los quistes foliculares pigmentados son quistes epiteliales muy infrecuentes. Se describen como lesiones papulares pigmentadas, de carácter benigno, que generalmente se ubican en la cabeza o cuello. Surgen de manera única, siendo la variante múltiple aún menos frecuente. A continuación, se presenta el caso de un hombre joven, con antecedentes de VIH en terapia antiretroviral, quien consultó por la presencia de múltiples lesiones perianales, asintomáticas, de larga data, cuyo resultado histológico resultó compatible con: quistes pigmentados foliculares múltiples.

Pigmented follicular cysts are a very rare epithelial cysts. They are described as a benign papular lesion, that is usually located in the head or neck. They arise as unique, being the multiple variant even less frequent. We present the case of a young man with a history of HIV in antiretroviral therapy, who consulted for the presence of multiple, long-term asymptomatic perianal lesions whose histological result was: compatible with multiple follicular pigmented cysts.

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Para el seguimiento del crecimiento de niños con severa malformación de miembros inferiores o de columna, disponer de referencias de estatura sentada (ES) y de miembros inferiores (MI) según edad es una herramienta de gran utilidad. Objetivos: estimar los centilos de ES y MI para ambos sexos, entre 0 a 18 años de edad y evaluar la utilidad de estas referencias en niños con malformaciones localizadas en MI o columna. Material y Métodos: los centilos 3°,10°, 25°, 50°, 75°, 90° y 97° de ES y MI según Edad (SE/E y MI/E) fueron estimados en una población sana de 4803 y 4818 varones y mujeres respectivamente, por el método LMS que utiliza la transformación BOX-COX para normalizar la distribución de los datos a cada edad. Resultados: en los primeros años de edad, la mediana de ES en ambos sexos fue similar. Entre los 11 y 13 años, las niñas tuvieron una ES mayor a la de los varones, pero luego se invirtió y se mantuvo así hasta la adultez. En MI la mediana también fue similar en ambos sexos durante los primeros años, pero a partir de los 12 el incremento fue mayor en los varones. A los 12 años la diferencia fue 0,71 cm, finalizando con 9 cm a los 18 años. El uso de estas referencias en niños con malformaciones de columna ó MI mostró un crecimiento patológico de estatura total y del segmento corporal comprometido, con un tamaño y crecimiento normal del segmento no afectado. Conclusión: los centilos de segmentos corporales según la edad constituyen una herramienta útil para la supervisión del crecimiento de niños con severa malformación de columna o miembros inferiores (AU)

For the follow-up of growth of children with severe lower-limb or spinal deformities, reference values for sitting height (SH) and lower-limb (LL) length according to age are extremely useful. Aims: To define percentiles of SH and LL for both sexes between 0 and 18 years of age and evaluate the usefulness of these references in children with LL or spinal deformities. Material and Methods: 3rd,10th, 25th, 50th, 75th, 90th, and 97th percentiles for SH and LL according to age (SE/age and LL/age) were estimated for a healthy population of 4803 and 4818 boys and girls, respectively, with the LMS method that uses the Box-Cox power exponential (BCPE) to normalize data distribution for age. Results: In the first years of life, mean SH was similar for both sexes. Between 11 and 13 years of age, girls had a greater SH than boys, but this relationship subsequently inverted and remained so until adulthood. The median length of LL was also similar in the first years of life, but after 12 years of age growth was increased in boys. At 12 years of age the difference was 0.71 cm, with a final difference of 9 cm at 18 years of age. The use of these reference values in children with spinal or LL deformities showed pathological growth of the whole body and the body segment involved with normal growth of the nonaffected segment. Conclusion: percentiles of the body segments according to age are a useful tool for the monitoring of growth of children with severe deformities of the spine or lower limbs (AU)

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Los niños nacidos prematuros de muy bajo peso, tienen una mayor frecuencia de baja talla a la edad adulta. En la Argentina no contamos con reportes de estatura final de estos niños. Se evaluaron el peso y estatura de 46 jóvenes de la ciudad de Buenos Aires con antecedentes de prematurez y muy bajo peso al nacer egresados de 7 unidades neonatales de la ciudad de Buenos Aires y conurbano bonaerense, entre los años 1990 y 1995. Los 46 jóvenes (27 mujeres) tenían una edad promedio de 18.97 años (16.04 - 22.93). La estatura media de las mujeres fue de -0,71 sDS (0.20) y -0.75 sDS (0.22) en varones. Se detectó baja estatura en 2 mujeres (7.4%) y 1 varón (5.3%). La incidencia global de baja estatura es de 6.5% (AU)

Infants born prematurely with a very low birth weight more often have short stature in adulthood. In Argentina there are no reports on final height in these children. We evaluated weight and height of 46 adolescents and young adults from the city of Buenos Aires with a history of prematurity and very low birth weight who were discharged from seven Departments of Neonatology in the city of Buenos Aires and Greater Buenos Aires between 1990 y 1995. The 46 youth (27 females) had a mean age of 18.97 years (16.04 ­ 22.93). Mean height of the women was -0.71 SDS (0.20) and mean height of the men was -0.75 SDS (0.22). Low stature was observed in two women (7.4%) and one man (5.3%). Overall incidence of short stature was 6.5%. (AU)

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La exostosis múltiple es una enfermedad poco frecuente, autosómica dominante, caracterizada por la presencia de múltiles proyecciones ósas rodeadas de cartílago, producto de un crecimiento anárquico del tejido óseo, ubicadas más frecuentemente en las metáfisis de los huesos largos. La prevalencia estimada de esta condición es 1 en 50000. Los genes supresores de tumores involucrados son EXT1-2 y 3. El objetivo de este estudio fue analizar las características clínicas y radiológicas de los pacientes con exostosis múltiple registrados en la base de datos del servicio de crecimiento y desarrollo desde enero de 1998 a enero de 2008. El número final de la población fue 45, 60% varones, mediana edad a la última consulta 10,6 (r: 3,48 – 17,08) años. Resultados: mediana de edad de la primer exostosis fue 1,88 (r: RN – 12,0) años. Las localizaciones fueron 52% miembros, 19% escápulas, 16% parrilla costal y 13% otras. No diferencias significativas por sexo ni forma de presentación familiar. El 100% de los niños mostró algún hueso largo afectado, 78,3% hueso plano y 30,8% columna. Los síntomas asociados fueron dolor (52%), alteración del eje de miembros superiores (50%) y de miembros inferiores (44,7%), alteración de la función de miembros superiores (38%) y de miembros inferiores (35%). Cinco pacientes presentaron retraso mental. La mayoría de los niños creció debajo del centilo 50. El 50% de los niños requirió alguna cirugía durante su seguimiento. El número de cirugías se asoció a alteración funcional. Un niño presentó asociación de exostosis múltiple con hipocondroplasia. No encontramos antecedentes de malignización. Conclusiones: Las complicaciones observadas en nuestra población fueron semejantes a las descriptas en la literatura siendo el dolor una de las más frecuentes. No encontramos asociación de las mismas con el sexo masculino.

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