RESUMEN

A condrodisplasia punctata (CDP) é um grupo de displasias ósseas caracterizadas por calcificações puntiformes nas cartilagens, principalmente epifisárias. Entre as várias formas de CDP, a ligada ao X é rara e foi descrita em 50 pacientes do sexo masculino na literatura. O objetivo deste estudo é descrever um caso atípico de CDPX1 e compará-lo com a literatura prévia. Pré-escolar, sexo masculino, quatro anos, nascido a termo, pequeno para a idade gestacional e sem casos semelhantes na família. Ele evoluiu com baixa estatura desproporcionada, eutrofia, escoliose cervical e dorsal com pectus carinatum, assimetria discreta em membros inferiores, hipertelorismo ocular com esclera azul-acinzentada e queda de cabelo. Não apresentou fraturas ou dores ósseas e teve desenvolvimento neuropsicomotor adequado para a idade. Os exames não mostraram alterações no perfil osteometabólico nem nos hormônios hipofisários. O cariótipo foi 46,XY e o painel genético para displasias esqueléticas mostrou uma variante patogênica em hemizigose no gene ARSL (Arylsulfatase L) chrX:2.934.859 C>T (p.Trp581* ENST00000381134) com diagnóstico de condrodisplasia punctata ligada ao cromossomo X do tipo 1. A CDPX1 está diretamente relacionada à deficiência da atividade da enzima ARSL, o que pode resultar em alterações de desenvolvimento neuropsicomotor, perda auditiva e episódios de insuficiência respiratória. No entanto, estas características não foram apresentadas pelo probando. Assim, o probando apresenta uma forma mais branda de CDPX1. O diagnóstico precoce de displasias esqueléticas como a CDPX1 é importante para o acompanhamento ambulatorial adequado, aconselhamento familiar e prevenção do desenvolvimento de comorbidades a longo prazo.

Chondrodysplasia punctata (CDP) is a group of bone dysplasias characterized by punctate calcifications in the cartilage, mainly epiphyseal. Among the various forms of CDP, the X-linked form is rare and has been described in 50 male patients in the literature. The aim of this study is to describe an atypical case of CDPX1 and compare it with previous literature. Preschooler, male, four years old, born full-term, small for gestational age and with no similar cases in the family. He developed disproportionate short stature, eutrophy, cervical and dorsal scoliosis with pectus carinatum, slight asymmetry in the lower limbs, ocular hypertelorism with blue-gray sclera and hair loss. He did not present fractures or bone pain and had neuropsychomotor development appropriate for his age. The exams showed no changes in the osteometabolic profile or in pituitary hormones. The karyotype was 46,XY and the genetic panel for skeletal dysplasias showed a hemizygous pathogenic variant in the ARSL gene (Arylsulfatase L) chrX:2.934.859 C>T (p.Trp581* ENST00000381134) diagnosed with X-linked chondrodysplasia punctata type 1. CDPX1 is directly related to the deficiency of ARSL enzyme activity, which can result in changes in neuropsychomotor development, hearing loss and episodes of respiratory failure. However, these characteristics were not presented by the proband. Thus, the proband has a milder form of CDPX1. Early diagnosis of skeletal dysplasias such as CDPX1 is important for adequate outpatient follow-up, family counseling and prevention of the development of long-term comorbidities.

RESUMEN

A síndrome metabólica é caracterizada pela presença concomitante de alteração na glicemia, dislipidemia, elevação da pressão arterial e adiposidade excessiva, os quais elevam o risco cardiovascular. O objetivo deste trabalho foi analisar os parâmetros da síndrome metabólica e a associação com o consumo de alimentos ultraprocessados e bebidas adoçadas em adolescentes com excesso de peso. Realizou-se um estudo transversal, conduzido com 67 adolescentes com excesso de peso, de um ambulatório pediátrico de um hospital público no município de São Paulo. A avaliação antropométrica consistiu na aferição de peso, estatura e circunferência da cintura. Foram coletados dados de glicose, triglicérides, HDL-c, e pressão arterial, e a síndrome metabólica (SM) analisada de acordo com critérios da Associação Brasileira de Nutrologia. O consumo alimentar foi avaliado pelo questionário de frequência alimentar semiquantitativo. A prevalência de síndrome metabólica foi de 56,7%. Os parâmetros mais prevalentes foram redução de HDL-c (71,6%), elevação da pressão arterial sistólica (70,1%) e da glicemia de jejum (64,2%). Observou-se correlação positiva entre a glicemia de jejum e o consumo de alimentos ultra processados e bebidas adoçadas.

Metabolic syndrome is characterized by the concomitant presence of changes in blood glucose, dyslipidemia, elevated blood pressure and excessive adiposity, which increase cardiovascular risk. The objective of this study was to analyze the parameters of metabolic syndrome and the association with the consumption of ultra-processed foods and sweetened beverages in overweight adolescents. A cross-sectional study was carried out with 67 overweight adolescents from a pediatric outpatient clinic of a public hospital in the city of São Paulo. The anthropometric assessment consisted of measuring weight, height and waist circumference. Data on glucose, triglycerides, HDL-c, and blood pressure were collected, and metabolic syndrome (MS) was analyzed according to criteria from the Brazilian Association of Nutrology. Food consumption was assessed using the semi-quantitative food frequency questionnaire. The prevalence of metabolic syndrome was 56.7%. The most prevalent parameters were a reduction in HDL-c (71.6%), and an increase in systolic blood pressure (70.1%) and fasting blood glucose (64.2%). Blood glucose was positively associated with the sweetened beverage consumption score and BMI. It is concluded that there is a high prevalence of metabolic syndrome in adolescents, with glycemia being associated with the consumption of sweetened beverages.

RESUMEN

A dor pélvica em adolescentes, especialmente durante o período menstrual, é frequentemente subestimada como problema de saúde e impacta significativamente a qualidade de vida. Objetivou-se avaliar o perfil clínico e nutricional de adolescentes com dismenorreia. Selecionou-se 40 adolescentes, com idade entre 11 e 19 anos, atendidas em uma clínica escola de São Paulo, bem como pela técnica de snow-ball. Avaliou-se a dor pélvica pelo questionário validado de escala de dor e o consumo alimentar por meio de recordatório alimentar de 24 horas e Questionário de Frequência Alimentar. Todas as participantes tinham estatura adequada para a idade e 72,5% estavam eutróficas. Trinta e cinco pacientes (87,5%) apresentaram dor de moderada a intensa, enquanto cinco (12,5%) tinham dor leve ou inexistente. A prática de atividade física mostrou-se menos comum entre o grupo com dor moderada a intensa (34,3%). Não houve diferença significativa na duração dos ciclos menstruais entre os grupos. Observou-se menor ingestão de cálcio no grupo com dor menstrual de maior intensidade. Ademais, notou-se menor consumo de alimentos 'in natura' e 'processados' no grupo com dor moderada a intensa durante as refeições de almoço e jantar, respectivamente. Identificou-se uma correlação negativa entre o consumo de cálcio e folato e a duração da dor em dias. A amostra estudada sugere que uma dieta balanceada, rica em cálcio, folato e alimentos naturais, pode ser importante no manejo da dismenorreia. Contudo, são necessárias mais pesquisas para compreender plenamente essa relação e desenvolver intervenções efetivas para o tratamento dessa condição comum entre adolescentes.

Pelvic pain in adolescents, especially during the menstrual period, is often underestimated as a health problem and significantly impacts quality of life. The objective was to evaluate the clinical and nutritional profile of adolescents with dysmenorrhea. 40 adolescents were selected, aged between 11 and 19 years old, treated at a teaching clinic in São Paulo, as well as using the snowball technique. Pelvic pain was assessed using a validated pain scale questionnaire and food consumption was assessed using a 24-hour dietary recall and Food Frequency Questionnaire. All participants had adequate height for their age and 72.5% were eutrophic. Thirty-five patients (87.5%) had moderate to severe pain, while five (12.5%) had mild or no pain. Practicing physical activity was less common among the group with moderate to severe pain (34.3%). There was no significant difference in the length of menstrual cycles between the groups. Lower calcium intake was observed in the group with more intense menstrual pain. Furthermore, there was a lower consumption of 'fresh' and "processed" foods in the group with moderate to severe pain during lunch and dinner meals, respectively. A negative correlation was identified between calcium and folate consumption and the duration of pain in days. The sample studied suggests that a balanced diet, rich in calcium, folate and natural foods, may be important in the management of dysmenorrhea. However, more research is needed to fully understand this relationship and develop effective interventions to treat this common condition among adolescents.

RESUMEN

SUMMARY: We describe a rare case of a girl with an initial diagnostic hypothesis of chromosome 8 trisomy based on clinical findings and karyotyping, which identified a structural change in the short arm of chromosome 8 (46,XX,add(8)(p23)). At the age of 7, she developed type 1 diabetes mellitus and started insulin therapy with multiple daily doses, and then she started to use a continuous insulin infusion system (pump) at 10 years of age. At the age of 12, she underwent a molecular study that identified an unbalanced translocation between the short arms of chromosomes 6 and 8 - 46,XX,add(8)(p23).ish der(8)t(6;8)(GS-196I5+;RP-11338B22-). LEARNING POINTS: Patients with an unbalanced translocation between the short arms of chromosomes 6 and 8 - 46,XX,add(8)(p23).ish der(8)t(6;8)(GS-196I5+;RP-11338B22-) may present syndromic features suggestive of chromosome 8 trisomy. Main characteristics are a prominent forehead, ocular and breast hypertelorism, ocular, external ear and palate abnormalities, a short neck, heart defects, and developmental delay. Patients with 46,XX,add(8)(p23).ish der(8)t(6;8)(GS-196I5+;RP-11338B22-) may present autoimmune type 1 diabetes mellitus. Karyotyping is an essential tool for the diagnosis of chromosomal changes, but it has some limitations. Multiplex ligation-dependent probe amplification, array-single nucleotide polymorphism and fluorescence in situ hybridization can help diagnose genetic syndromes in patients with atypical evolution.