Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome.

BACKGROUND: Floating-Harbor syndrome is a rare autosomal dominant short stature syndrome with retarded speech development, intellectual disability and dysmorphic facial features. Recently dominant mutations almost exclusively located in exon 34 of the Snf2-related CREBBP activator protein gene were identified to cause FHS. METHODS: Here we report the genetic analysis of 5 patients fulfilling the diagnostic criteria of FHS obtained by Sanger sequencing. All of them presented with short stature, speech delay as well as psychomotor delay and typical facial dysmorphism. Three patients showed a good response to growth hormone treatment. RESULTS: Two patients demonstrate novel, heterozygous de novo frameshift mutations in exon 34 (c.7396delA and c.7218dupT) leading to premature stop mutations in SRCAP (p.Val2466Tyrfs*9 and p.Gln2407Serfs*36, respectively). In two further patients we found already known SRCAP mutations in exon 34, c.7330C > T and c.7303C > T, respectively, which also lead to premature stop codons: p.Arg2444* and p.Arg2435*. In one patient, we identified a novel de novo stop mutation in exon 33 (c.6985C > T, p.Arg2329*) demonstrating that not all FHS cases are caused by mutations in exon 34 of SRCAP. CONCLUSIONS: Our data confirm a mutational hot spot in the final exon of SRCAP in the majority of FHS patients but also show that exon 33 of this gene can be affected.

[Care of children and adolescents with gender dysphoria in the context of an interdisciplinary special consultation service]. / Versorgung von Kindern und Jugendlichen mit Geschlechtsdysphorie im Rahmen einer interdisziplinären Spezialsprechstunde.

In Germany, the situation of health care services for children and adolescents with gender dysphoria is insufficient. In 2006 a specialized multiprofessional outpatient clinic was founded at the University Medical Center Hamburg-Eppendorf. Goals were improvement of health services for gender dysphoric children, development of treatment concepts, and gain of knowledge through research. After finishing a thorough interdisciplinary assessment an individualized, case-by-case treatment starts. Besides psychotherapy an interdisciplinary treatment (e. g. puberty suppression and cross-sex hormones) is provided if indicated. During childhood a watchful waiting and carefully observing attitude is necessary. If a marked increase of gender dysphoria occurs during the first phases of puberty development, puberty suppression and later cross sex-hormones might be indicated.

Cor triatriatum / Cor triatriatum

Pacietne de 16 anos com insuficiência cardíaca e hipertensäo pulmonar, simulando estenose mitral. ecocardiografia bidimensional mostrou valva mitral normal e imagem linear em átrio esquerdo, confirmada à angiografia que evidenciou membrana de cor triatriatum com orifício de 4 mm. Realizou-se ressecçäo cirúrgica da membrana, com bom resultado

A 16-year-old patient was evaluated for congestive heart failure and pulmonary hypertension, suggesting mitral valve stenosis. A left atrial membrane with a 4 mm orifice was seen in echocardiography and angiography, and a diagnosis of cor triatriatum was made. The membrane was successfully removed by surgery

Análise da febre em 58 casos de endocardite infecciosa / Fever analysis in 58 cases of infective endocarditis

Objetivo - Análise da febre como parâmetro indicativo da antibioticoterapia e do prognóstico dos pacientes durante o tratamento da endocardite infecciosa (EI). Métodos - Estudaram-se retrospectivamente 58 casos de EI no período de janeiro de 1980 a dezembro de 1989. Deu-se enfoque à história clínica e evoluçäo febril. Os pacientes foram divididos em três grupos, segundo o número de picos febris semanais. A temperatura foi analisada pela média ponderada do pico mais alto de cada paciente, semanalmente. Resultados - Na primeira consulta, 52 pacientes (86,2%) apresentaram febre, sendo que todos vieram a tê-la durante algum momento da internaçäo. Observou-se que um maior número de picos febris semanais está relacionado com valores da temperatura corpórea mais elevados, independentemente do tempo de antibioticoterapia. Após a segunda semana de tratamento, os pacientes que apresentaram até dois picos febris tiveram uma sobrevida de 93,1% e tempo médio de internaçäo de 35,5 dias, contra 72,7% e 47,5 dias, respectivamente, naqueles com mais de dois picos febris. Conclusäo - A febre é um sinal bastante útil para a avaliaçäo da eficácia do tratamento. Assim, nos casos em que houver persistência de três ou mais picos febris após a segunda semana de antibioticoterapia, o esquema terapêutico deve ser reavalidado, considerando-se mesmo a cirurgia. Portanto a intensidade da febre pode traduzir complicaçöes, prognosticando maior letalidade e um tempo de internaçäo mais longo