Wiedemann-Steiner syndrome caused by novel mutation of KMT2A gene: one case report and literature review / 中华内分泌代谢杂志

Objective To analyze the clinical and biochemical,as well as genetic characteristics of a patient with Wiedemann-Steiner syndrome (WDSTS).Methods The clinical data of a patient with WDSTS were collected.The patient was treated with recombinant human growth hormone (rhGH) combined with gonadotrophine-releasing hormone agonist (GnRHa).Blood samples of the patient and her parents were taken for whole-Exome Sequencing (WES).Relevant literatures about KMT2A mutations were reviewed.Results The 5-year old girl presented with growth retardation,with height 100 cm (-2.4 SD),torpid reaction,and facial anomalies including low hairline,thick eyebrow and hair,hypertelorism,a wide nasal bridge.She had small and puffy hands and feet,excessive hair around back of neck,bilateral forearm and lower limbs.Her GH peak level was 26.6 ng/ml during GH stimulation test.She was re-examined at the age of 10.4 years,with severe short stature (120 cm/-3.58 SD) and a Tanner stage 2 of breast development.Her bone age was found to be approximately 11.4 years.Height increased from 120 cm at the age of 10.4 years to 147.3 cm after rhGH treatment combined with GnRHa for 2.5 years.rhGH therapy alone continued for 1.1 years and a height of 150 cm was reached at the age of 14.9 years,with bone age 14 years.Gene sequencing revealed a de novo frameshift mutation (c.10051 delA,p.Thr3351 Leufs * 17) of exon 27 in KMT2A gene of the patient,but without any mutation in her parents.Through a literature review,seventy-one patients with WDSTS (including present case) presented with intellectual disability (70/71),facial anomalies (70/71),short stature (50/71),and hypertrichosis (39/71).Conclusion Patients presented with short stature,typical facial dysmorphism,intellectual disability,and hypertrichosis should be considered for WDSTS.The mutation p.Thr3351Leufs * 17 in the KMT2A gene detected in our patient is a novel mutation.This is so far the first report of WDSTS patient who was successfully treated with a combination of GH and GnRHa at the onset of puberty to improve her adult height.

Establishing Cephalometric Norms For Coastal Andhra Children With Steiner’s Analysis

The purpose of this study was to establish Cephalometric norms for Coastal Andhra school going children by Steiner analysis and compare with Caucasian norms. The method involved clinical examination, collection and analysis of 100 lateral cephalometric radiographs of Vijayawada children (70 males and 30 females, between 12 and 14 years of age). All cephalometric landmarks were located and tracing was done according to Steiner analysis. The mean value and standard deviation of each measurement were calculated. Statistical comparison was done using Student t-test. The result of this study showed that the Vijayawada children had retrusion of mandible relative to cranial base, proclination of bothmaxillary and mandibular teeth, showed greater convexity of face, with anteriorly placed occlusal plane to cranium and less prominent chin. In conclusion,all these ethnic differences should be considered during orthodontic treatment.

Relación del ángulo interincisivo con el tipo de clase esquelética antero-posterior en pacientes atendidos en la segunda especialidad de ortodoncia y ortopedia maxilar de la Universidad Católica Santa María / Relationship of the interincisive angle with the type of anteroposterior skeletal class in patients treated in the second speciality of orthodontics and maxillofacial orthopedics of Universidad Catolica Santa Maria

Objetivos: Evaluar las características del incisivo superior con el incisivo inferior, ver su angulación 130° (+/-6°) y relacionarlo con el tipo de clase esquelética antero posterior. Observar si existe una relación del ángulo interincisivo con el tipo de clase esquelética antero-posterior. Material y métodos: Se utilizaron como metodología, los análisis cefalométrico de Steiner y Ricketts por ser de suma importancia para el diagnóstico y plan de tratamiento para el especialista en ortodoncia ortopedia maxilar. Por tener mayor nitidez y buen contraste en comparación con las analógicas y así poder localizar los puntos cefalométricos más importantes se examinaron 60 radiografías laterales de cráneo digitales; estas fueron tomadas a pacientes de la segunda Especialidad de Ortodoncia y Ortopedia Maxilar de la Universidad Católica Santa María (UCSM) entre las edades de 12 a 16 años con presencia de los incisivos centrales superiores e inferiores. Los datos fueron obtenidos mediante trazados en papel de acetato de acuerdo a los puntos cefalométricos más importantes, los datos angulares y lineales obtenidos se recopilaron en una ficha de registro de datos. Resultados: Se presentó una mayor cantidad de pacientes con un ángulo interincisivo disminuido menor a la norma, y una mayor frecuencia de clase II esqueletal mayor a la norma, la gran mayoría fueron del género femenino que acudieron a la Segunda Especialidad de Ortodoncia y Ortopedia Maxilar, En menor incidencia el ángulo interincisivo aumentado y normal y la clase esquelética III y I. Conclusiones: Los pacientes que presentaron con mayor frecuencia una relación del ángulo interincisivo con el tipo de clase esquelética antero-posterior fueron los que estaban comprendidos entre 12 y 16 años de edad. (AU)

Objectives: To evaluate the characteristics of the upper incisor, with the lower incisor see its angulation 130 ° (+/- 6 °) and relate it to the type of anteroposterior skeletal class. Observe if there is a relation of the interincisive angle with the type of antero-posterior skeletal class. Material and methods: The cephalometric analysis of Steiner and Ricketts was used as methodology for being of paramount importance for the diagnosis and treatment plan for the orthodontic specialist in maxillary orthopedics. The materials to be used were 60 digital lateral skull radiographs to have greater sharpness and good contrast in comparison with the analogical ones and to be able to locate the most important cephalometric points. These were taken to patients of the second Specialty of Orthodontics and Maxillary Orthopedics of the UCSM, between the ages of 12 and 16 years with presence of the upper and lower central incisors. The data were obtained by drawing on acetate paper according to the most important cephalometric points, the angular and linear data obtained were collected in a data log. Results: Were presented, a greater number of patients with a decreased interincisive angle lower than the norm, and a higher frequency of skeletal Class II greater than the norm, the great majority were of the feminine gender that went to the Second Specialty of Orthodontics and Orthopedics The incidence of increased and normal interincision angle and skeletal class III and I. Conclusions: Patients who most frequently presented a ratio of the interincisive angle to the type of anteroposterior skeletal class were those between 12 and 16 years of age. (AU)

Contribuições da medicina antroposofica a integralidade na educação medica: uma aproximação hermenêutica / Contribuciones de la medicina antroposofica a la integralidad en la educación medica: una aproximación hermeneuticaaa / Contributions of anthroposophic medicine to integrality in medical education: ma hermeneutic approach

O objetivo deste trabalho é apontar possíveis contribuições da obra do fundador da medicina antroposófica, Rudolf Steiner, à integralidade na educação médica. Trata-se de um estudo hermenêutico, como apontado por Gadamer, dos cursos e das palestras dados por Steiner sobre medicina. São apresentadas quatro proposições, síntese do seu pensamento: (1) uma crítica ao modelo de ciência materialista que pode ser ampliada a partir de uma fenomenologia goetheana; (2) a trimembração e quadrimembração antroposóficas como chaves interpretativas do processo saúde-adoecimento; (3) a integração entre ser humano e natureza como fundamento de pesquisa de novos tratamentos; e (4) o vínculo entre desenvolvimento moral e formação técnica-científica na educação médica. Os limites e as potencialidades destas proposições são analisados na perspectiva da viabilidade de uma pluralidade epistemológica nos conhecimentos e práticas em medicina.

El objetivo de este trabajo es señalar posibles contribuciones de la obra del fundador de la medicina antroposófica, Rudolf Steiner, a la integralidad en la educación médica. Se trata de un estudio hermenéutico, conforme señalado por Gadamer, de los cursos y conferencias dictados por Steiner sobre medicina. Se presentan cuatro propuestas síntesis de su pensamiento: (1) una crítica al modelo de ciencia materialista que se puede ampliar a partir de una fenomenología goetheana; (2) la trimembración y cuadrimembración antroposóficas como claves interpretativas del proceso salud-enfermedad (3) la integración entre ser humano y naturaleza como fundamento de investigación de nuevos tratamientos; y (4) el vínculo entre desarrollo moral y formación técnico-científica en la educación médica. Los límites y potencialidades de estas propuestas se analizan bajo la perspectiva de la viabilidad de una pluralidad epistemológica en los conocimientos y prácticas en medicina.

The aim of this study was to identify possible contributions from the work of the founder of anthroposophic medicine, Rudolf Steiner, to integrality in medical education. This was a hermeneutic study along the lines indicated by Gadamer, on the courses and lectures on medicine given by Steiner. Four main summarized proposals regarding his thinking are presented: (1) a critique of the model of materialistic science that can be expanded through Goethean phenomenology; (2) anthroposophic threefolding and fourfolding as interpretative keys for the health-illness process; (3) integration between human beings and nature as the foundation of research on new treatments; and (4) the link between moral development and scientific and technical training in medical education. The limits and potentials of these proposals were analyzed from the perspective of the viability of epistemological plurality within medical knowledge and practices.

Which Line to Kiss. A Review of Reference Lines For Lip Profile.

Orthodontists have their own preferences in selecting the reference line for evaluation of the upper and lower lip in treatment planning and post treatment results. The reference line should provide the orthodontist with objective assessment of the facial esthetics. The reference plane selected should be sensitive, reliable with consistency. The commonly used reference line are: Rickett’s E- line, Holdaway’s line, Steiner’s S1- line, Burstone’s B- line and Sushner’s S2- line and Merrified Z-angle. This article reviews the planes and the studies evaluating them.

Utility of lead thyroid collar in cephalometric radiography.

Objective: To investigate whether the application of thyroid collars (TCs) affects the results of cephalometric study. Study Design: The Steiner cephalometric analysis of the patients was performed using lateral cephalometric radiographs, which were taken twice for each patient: Once using TCs (TC group; n0 = 50) and once without using TCs (NTC group; n = 50). A randomized and observer-blinded diagnostic study with head films taken from the two aforementioned groups was performed and results were evaluated with the t-test and Z-test, using GraphPad® Prism 4 software. Results : Statistical analysis using t-test was performed. The values of the line angles used in Steiner cephalometric analysis were compared for which values of each angle remained unchanged when done using TCs and without TC to the same samples. Conclusions : Lead shielding of the thyroid gland does not affect landmark identification or the specific measurements of the angulations traced during cephalometric analysis. TCs should be routinely applied during cephalometric radiography if cephalometric analyses are limited to the structures above the second cervical vertebra.