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ResumenIntroducciónEl síndrome de Silver-Russell presenta restricción del crecimiento intrauterino y posnatal, macrocefalia relativa y asimetría, entre otras características. Es causado por mecanismos genéticos y epigenéticos en el cromosoma 11p15.5 en el 40% de los casos y por disomía uniparental materna del cromosoma 7 en el 10%.MétodosSe identificaron los pacientes con diagnóstico de síndrome de Silver-Russell del Hospital Infantil de México Federico Gómez atendidos de 1998 a 2012; se reevaluaron 20 pacientes según los criterios clínicos internacionales, y se confirmó el diagnóstico en nueve sujetos.ResultadosTodos los pacientes presentaron restricción del crecimiento intrauterino y talla baja, ambos criterios diagnósticos mayores. La macrocefalia relativa estuvo presente en el 78% y la asimetría corporal solo en el 33%. Otras características, como la acidosis tubular renal, estuvieron presentes en más del 50%.ConclusionesEl diagnóstico del síndrome de Silver-Russell es complejo, por lo que contar con criterios clínicos adecuados es fundamental. Dado que la talla baja es la principal solicitud de atención médica en este síndrome, es relevante establecer diagnósticos diferenciales y valorar el crecimiento y desarrollo de todos los pacientes para identificar a aquellos en quienes la talla baja forma parte de una entidad sindrómica y que serían candidatos para realizar estudios moleculares. Este abordaje tendrá implicaciones para su manejo, pronóstico y asesoramiento genético.AbstractBackgroundPatients with Silver-Russell syndrome suffer from severe intrauterine and postnatal growth retardation, relative macrocephaly and body asymmetry, among other characteristics. It is caused by several genetic and epigenetic mechanisms in 11p15.5 in 40% of the cases and maternal uniparental disomy of chromosome 7 in 10%.MethodsTwenty patients with a diagnosis of Silver-Russell syndrome who were seen at the HIMFG from 1998 to 2012, were evaluated according to international clinical criteria confirming the diagnosis in nine of the subjects.ResultsAll patients showed intrauterine and postnatal growth retardation and short stature, both considered as major criteria of Silver-Russell syndrome. Relative macrocephaly was present in 78% of the patients and asymmetry in 33%. Other characteristics such as renal tubular acidosis were present > 50% of the cases.ConclusionsThe clinical diagnosis of Silver-Russell syndrome is complex. Short stature is the main reason for seeking medical attention and is helpful in the identification of a differential diagnosis. This situation underlines the importance of growth and development evaluation of all patients and particularly in those with short stature to identify those cases that may require molecular studies, with implications in management, prognosis and genetic counseling.

The prevalence of overweight and obesity in children and adolescents is increasing in both the United States and Mexico.The goal of this article was to assess the efficacy and safety of sibutramine in obese Mexican adolescents.This was a 6-month, randomized, double-blind, placebo-controlled, prospective clinical trial of sibutramine QD. Male and female patients aged 14 to 18 years with sex-specific body mass index (BMI) for age and sex85th percentile were eligible. The primary end points for the trial were the baseline versus end point absolute values for body weight, BMI, and percentage of the initial BMI (%BMI); secondary end points were waist circumference and percentage of the initial waist circumference (%waist). These were measured at days -15, 0, 30, 60, 90, 120, 150, and 180 of the study. Quality of life was assessed at the study start and end using the 36-Item Short-Form Health Survey (SF-36) questionnaire. Blood pressure and heart rate were assessed, and adverse events (AEs) were recorded. Both groups received individually tailored diet and exercise programs.Forty-six patients (age range, 14-18 years) with a BMI95th percentile for age were included (sibutramine group, n = 23 [14 females, 9 males]; placebo group, n = 23 [12 females, 11 males]). Twenty-one patients in the sibutramine group and 19 patients in the placebo group completed the 6-month trial. Using the intent-to-treat data, weight (mean [SD]) in the sibutramine group changed from 92.5 (14.6) kg to 85.7 (14.4) kg, for a net weight loss of 7.3 kg (95% CI 4.6-9.9), a waist circumference loss of 8.0 cm (95% CI, 4.7-11.3), and a % BMI loss of 9.2% (95% CI, 6.9-11.6). In the placebo group, weight changed from 98.9 (22.7) kg to 94.6 (22.5) kg, a weight loss of 4.3 kg (95% CI, 1.7-6.9), a waist circumference loss of 3.8 cm (95% CI, 0.7-7.0), and a %BMI loss of 5.2% (95% CI, 2.4-7.9) (P0.05 for all intragroup comparisons; P0.05 for the intergroup comparisons). Mean (SD) scores on the SF-36 scale in the sibutramine group changed from 78.0 (13.3) at baseline to 84.8 (7.4) at study end (P0.05); the respective values in the placebo group were 82.8 (10.3) and 87.3 (7.6) (P0.05). At base-line, systolic blood pressure (SBP) was 116.7 (5.9) mm Hg in the sibutramine group and 118.3 (7.6) mm Hg in the placebo group; at end point, the respective SBPs were 112.4 (9.6) mm Hg and 112.6 (6.5) mm Hg. At baseline, diastolic blood pressure (DBP) was 78.9 (4.5) mm Hg in the sibutramine group and 79.5 (5.2) mm Hg in the placebo group; at end point, the respective DBPs were 73.5 (6.3) mm Hg and 76.6 (6.2) mm Hg. At baseline, heart rate was 76.3 (6.4) beats/min in the sibutramine group and 81.1 (9.5) beats/min in the placebo group; at end point, the respective findings were 79.8 (8.8) beats/min and 77.6 (8.6) beats/min (P0.05 for all preceding intergroup comparisons). One patient in the sibutramine group had increased blood pressure (at month 3) and 3 had increased heart rate (at months 1, 2, and 4); 2 patients receiving placebo had increased blood pressure (month 3) and 2 had increased heart rate (at months 1 and 3). These changes disappeared in 1 week and did not require treatment or trial suspension. Additionally, in the sibutramine group, 3 patients experienced 4 mild AEs: headache, dry mouth, headache with nausea, and headache with weakness and paleness (P0.05). In the placebo group, 3 patients experienced 4 mild AEs: 2 cases of headache, as well as 1 case of headache with somnolence and 1 case of headache with dry mouth (P0.05).Sibutramine 10 mg QD in addition to diet and exercise was effective and generally well tolerated in this population of obese Mexican adolescents.

Objective The objectives of this paper are to compare sexual function and distress in women with systemic lupus erythematosus (SLE) and in healthy controls; to determine the association between disease characteristics, quality of life, psychopathology and sexual function; and to compare sexual function and distress of women according to age (reproductive and nonreproductive-age women). Methods We conducted a cross-sectional study of 120 participants; 65 women had SLE (aged 18–65), and 55 were healthy, age-matched controls. The assessment included the Female Sexual Function Index (FSFI), Symptom Checklist-90-Revised (SCL-90-R), Short Form 36 health survey (SF-36), socio-demographic characteristics and the Systemic Lupus International Collaborating Clinics (SLICC) and SLE Disease Activity Index (SLEDAI) in SLE patients only. Results Of 65 eligible patients with SLE, 61 (94%) responded; of 55 control subjects, 53 (96%) responded. The FSFI total score and subscale scores for desire, arousal, lubrication, orgasm and pain were significantly lower in patients with SLE. More somatization, obsessive-compulsive symptoms, interpersonal sensitivity, depression, anxiety, hostility, phobia, paranoid ideation, psychoticism, the Positive Symptom Total (PST), Positive Score Discomfort Index (PSDI), the use of psychotropic drugs, general health, vitality, social function, emotional role and mental health were significantly associated with changes in the patient group’s sexuality. Multivariate analysis indicated that depression, PSDI and vitality were the variables significantly associated with low sexual function in patients with SLE. Conclusions Women with SLE reported significantly impaired sexual function compared with healthy controls. Impaired sexual function was associated with somatization, obsessive-compulsive behavior, interpersonal sensitivity, depression, hostility, paranoid ideation, psychoticism, PST, higher scores in the PSDI subscale, vitality, social functioning and mental health. These results indicate that, in daily practice, inquiring about sexuality and quality of life and screening for psychopathology are important for every patient with SLE, irrespective of their clinical characteristics.