Peri-operative management of a patient with an ectodermal dysplasia (Rapp-Hodgkin) syndrome.

We present the case of a 41-year-old man with Rapp-Hodgkin syndrome who underwent nasal septum deviation surgery under general anaesthesia. This syndrome is rare, with approximately 70 cases reported worldwide. It is one of a group of ectodermal dysplasia syndromes and results from the aberrant development of ectoderm during fetal development. Some of the clinical features may affect anaesthetic management. The most important considerations are potentially difficult airway management, the need for meticulous temperature control, and the importance of skin protection. This case was uneventful, but as there are few case reports on the management of patients with ectodermal dysplasia syndromes undergoing anaesthesia this report contributes useful knowledge. The pathogenesis and clinical features of Rapp-Hodgkin syndrome and the anaesthetic management for this patient are described.

Artificial intelligence and high-resolution anoscopy: automatic identification of anal squamous cell carcinoma precursors using a convolutional neural network.

BACKGROUND: High-resolution anoscopy (HRA) is the gold standard for detecting anal squamous cell cancer (ASCC) precursors. Although it is superior to other diagnostic methods, particularly cytology, the visual identification of areas suspected of having high-grade squamous intraepithelial lesions remains difficult. Convolutional neural networks (CNNs) have shown great potential for assessing endoscopic images. The aim of the present study was to develop a CNN-based system for automatic detection and differentiation of HSIL versus LSIL in HRA images. METHODS: A CNN was developed based on 78 HRA exams from a total of 71 patients who underwent HRA at a single high-volume center (GH Paris Saint-Joseph, Paris, France) between January 2021 and January 2022. A total of 5026 images were included, 1517 images containing HSIL and 3509 LSIL. A training dataset comprising 90% of the total pool of images was defined for the development of the network. The performance of the CNN was evaluated using an independent testing dataset comprising the remaining 10%. The sensitivity, specificity, accuracy, positive and negative predictive values, and area under the curve (AUC) were calculated. RESULTS: The algorithm was optimized for the automatic detection of HSIL and its differentiation from LSIL. Our model had an overall accuracy of 90.3%. The CNN had sensitivity, specificity, positive and negative predictive values of 91.4%, 89.7%, 80.9%, and 95.6%, respectively. The area under the curve was 0.97. CONCLUSIONS: The CNN architecture for application to HRA accurately detected precursors of squamous anal cancer. Further development and implementation of these tools in clinical practice may significantly modify the management of these patients.

Subarachnoid and subdural haematoma after attempted spinal anaesthesia for caesarean section.

We report a case of a previously healthy patient who developed a vertebral canal haematoma in the subarachnoid and subdural spaces after a spinal puncture for elective caesarean section. Vertebral canal haematomas are rare. There are different mechanisms for haematoma formation, but coagulation disturbances and trauma, most often due to needle punctures, are the most important. Vertebral canal haematoma may warrant emergent surgical decompression. In this case report we discuss vertebral canal haematomas, including possible mechanisms, clinical diagnosis, imaging modalities, methods for management and advice for patients. We consider the possible association between a vertebral canal haematoma and non-steroidal anti-inflammatory drugs, and draw attention to an existing black box warning for ketorolac. In this case, we explain why a conservative approach was chosen with a good outcome. We also report the effect of this complication on the patient experience.

Role of enteroscopy in the diagnosis of whipple's disease.

Whipple's disease is a rare chronic systemic infection caused by Tropheryma whipplei. The widespread infection by this rod is responsible for the protean clinical manifestations of the disease, although its classical form is notable for the prevalence of abdominal symptoms such as chronic diarrhea and abdominal pain. Whitish-yellow patches, suggestive of lymphangiectasia, are typically observed in the duodenum during upper endoscopy. The diagnosis of this condition is supported by the identification in duodenal biopsies of Periodic acid-Schiff staining within lamina propria macrophages. Nevertheless, a significant portion of patients do not have lesions within the range of conventional upper endoscopy. Therefore, other endoscopic procedures such as video capsule endoscopy and enteroscopy may be useful to detect more distal lesions. The authors describe a case where the combined used of both techniques allowed the unmasking of this disease.

Artificial intelligence and colon capsule endoscopy: development of an automated diagnostic system of protruding lesions in colon capsule endoscopy.

BACKGROUND: Colon capsule endoscopy (CCE) is a minimally invasive alternative for patients unwilling to undergo conventional colonoscopy, or for whom the latter exam is contraindicated. This is particularly important in the setting of colorectal cancer screening. Nevertheless, these exams produce large numbers of images, and reading them is a monotonous and time-consuming task, with the risk of overlooking important lesions. The development of automated tools based on artificial intelligence (AI) technology may improve some of the drawbacks of this diagnostic instrument. METHODS: A database of CCE images was used for development of a Convolutional Neural Network (CNN) model. This database included anonymized images of patients with protruding lesions in the colon or patients with normal colonic mucosa or with other pathologic findings. A total of 3,387,259 frames from 24 CCE exams were retrospectively reviewed. For CNN development, 3640 images (860 protruding lesions and 2780 with normal mucosa or other findings) were ultimately extracted. Training and validation datasets were constructed for the development and testing of the CNN. RESULTS: The CNN detected protruding lesions with a sensitivity, specificity, positive and negative predictive values of 90.7, 92.6, 79.2 and 96.9%, respectively. The area under the receiver operating characteristic curve for detection of protruding lesions was 0.97. CONCLUSIONS: The deep learning algorithm we developed is capable of accurately detecting protruding lesions. The application of AI technology to CCE may increase its diagnostic accuracy and acceptance for screening of colorectal neoplasia.

A critical test of twelve methods for estimating age using radiographic staging of developing teeth on a sample of 6- to 15-year-old children from Mérida, Yucatán (México).

Cross-population applicability of osteological and dental methods is a known issue in forensic anthropology, but very little is known about whether differences between populations are due to ancestry, environment effects, or even the statistical approach utilized for developing the methods. This study wishes to add to the discussion of population-specificity of dental age estimation methods and examine the impact of their statistical basis on their accuracy and precision. These parameters were estimated by testing 12 different dental age estimation techniques on a sample of 182 panoramic radiographs of children between the ages of 6 and 15 years (110 girls and 72 boys) from the city of Mérida in Yucatán, México. None of the 12 methods selected is based on Mexican samples. Dental maturation was scored following and methods tested employed two dental scoring schemes: Moorrees, Fanning, and Hunt's (MFH) 13-/14-stage system and Demirjian's 8-stage system. Results show that methods derived from more geographically specific groups do not fare better or worse than methods developed on more diverse and inclusive international samples, even if no methods specific to Mexicans were tested. While some of the methods performed very well, and they were not based on a Mexican sample, this suggests that population-specific dental age estimation methods may be relatively unimportant or that population differences in dental maturation are very small. Other issues seemed to have a greater impact on accuracy and precision, such as age dependency, inclusion of the third molar in age assessments, age truncation and age heaping in reference samples, the dental scoring scheme used, and how predicted age is calculated mathematically. As such, findings in this study suggest that validation tests of age estimation methods may not be a useful or reliable means to assess population differences and that these differences need to be more systematically assessed if an argument is to be made for the increased accuracy and precision of population-specific methods. The statistical basis of dental prediction methods seems to have a more significant role in their accuracy and precision outside of their reference sample.

Synovial entrapment in alloplastic temporomandibular joint replacement.

Complications of alloplastic temporomandibular joint (TMJ) prostheses can lead to stress and anxiety for the patient and the surgical team, and prosthesis substitution is sometimes required. The aim of this case report is to describe the surgical finding of synovial entrapment with interposed fibrosis in a postoperative alloplastic TMJ revision, managed effectively with adequate surgical debridement. The authors believe that synovial entrapment needs to be considered as a possible postoperative complication of total joint replacement when no clear symptoms of infection, metal hypersensitivity, osteolysis, or heterotopic bone formation are present. The implications of synovial entrapment in TMJ alloplastic replacement remains relatively unpredictable and poorly understood.

Correlação entre os achados radiográficos e ecocardiográficos sugestivos de aumento cardíaco em cães: 104 casos / Correlation between radiographic and ecocardiographic findings suggestive of cardiomegaly in 104 dogs

Radiografias torácicas e ecocardiogramas de 104 caninos foram avaliados e correlacionados quanto ao aumento das câmaras cardíacas. Os achados radiográficos foram correlacionados estatisticamente a fim de se estabelecer a acurácia do exame radiográfico na detecção do aumento cardíaco em comparação ao ecocardiográfico - padrão-ouro não invasivo. A correlação entre os achados radiográficos indicativos de aumento cardíaco e os índices ecocardiográficos mostrou-se fraca, significativa somente para VHS versus relação átrio esquerdo/aorta (r=0,3136), eixo curto versus relação átrio esquerdo/aorta (r=0,3813) e eixo curto versus velocidade da onda E (r=0,2021). A acurácia da radiografia na determinação subjetiva de aumento das câmaras cardíacas foi razoável, variando entre 72,1% e 80,8%. Em contrapartida, o VHS apresentou baixa acurácia (50,9%) na detecção de cardiomegalia.(AU)

Thoracic radiographs and echocardiograms of 104 canines were evaluated and correlated regarding cardiac chambers enlargement. The radiographic findings were statistically correlated in order to establish the accuracy of the radiographic examination in the detection of cardiac enlargement in comparison with the echocardiogram - non-invasive gold standard. The correlation between the radiographic findings indicative of cardiac enlargement and echocardiographic indexes was weak, significant only for VHS versus left atrium to aorta ratio (r= 0.3136), short axis versus left atrium to aorta ratio (r= 0, 3813) and short axis versus E wave velocity (r= 0.2021). The radiographic accuracy in the subjective determination of cardiac chamber enlargement was reasonable, ranging from 72.1% to 80.8%. On the other hand, VHS presented low accuracy (50.9%) in the detection of cardiomegaly.(AU)

Liver transplant recipients have a higher prevalence of anal squamous intraepithelial lesions.

BACKGROUND: Anal squamous intraepithelial lesions (ASIL) are precancerous lesions of anal squamous cell carcinoma, with a higher prevalence in immunosuppressed patients. There are some studies in kidney transplant recipients, but there is no information regarding prevalence in liver transplantation. Our aim was to evaluate the prevalence of ASIL in this setting. METHODS: Prospective case-control study involving liver transplant recipients without any other known risk factor for ASIL (n=59), which were compared with a healthy control group (n=57). All were submitted to anal cytology and high-resolution anoscopy was performed in those with abnormal results. RESULTS: Ten (17%) of liver transplant recipients had abnormal cytological results, seven patients had atypical squamous cells of undetermined significance (ASC-US), one patient had atypical squamous cells that cannot exclude high-grade (ASC-H) and two patients had high-grade squamous intraepithelial lesions (HSIL). In the control group, one patient (2%) had an ASC-US result (P=0.005). Anal squamous intraepithelial lesions were confirmed in 7 out of 10 of liver transplant patients and 0 out of 1 in the controls (P=0.013) by high-resolution anoscopy with biopsies. Current smoking was the only risk factor for abnormal cytology (odds ratio=5.87, 95% confidence intervals=1.22-28.12, P=0.027). CONCLUSIONS: Liver transplant patients have a higher risk of ASIL. Screening should be considered, especially in smokers.

Estenose esofágica em duas cadelas após ovário-histerectomia: relato de caso / Esophageal stricture in two female dogs after ovariohysterectomy: case report

A estenose esofágica benigna é uma afecção rara em pequenos animais, comumente secundária a esofagites ulcerativas. O refluxo gastroesofágico, frequente durante procedimentos anestésicos, é a principal causa de esofagite grave, com consequente formação de cicatriz esofágica. O presente trabalho tem por objetivo descrever dois casos de estenose esofágica ocorrentes após ovário-histerectomia, com destaque para os procedimentos diagnósticos realizados. Em ambos os casos, a combinação dos sinais clínicos sugestivos e os achados de esofagograma e esofagoscopia foram determinantes. No primeiro caso, devido ao tempo avançado de desenvolvimento dos sinais clínicos, o paciente veio a óbito antes mesmo que a intervenção direta da região de estenose fosse realizada. Já no segundo, o procedimento de gastrostomia para melhor manejo alimentar, associado à dilatação esofágica via esofagoscopia e à terapia com medicamentos antiácidos, resultou em melhora clínica.(AU)

Benign esophageal stricture is a rare affection in small animals, usually secondary to ulcerative esophagitis. Gastroesophageal reflux, frequent during anesthetic procedures, is the main cause of severe esophagitis with consequent formation of esophageal cicatrix. The objective of this work is to describe two cases of esophageal stricture occurring after ovariohysterectomy, highlighting the diagnostic procedures performed. In both cases, the combination of the suggestive clinical signs and findings from an esophagram and an esophagoscopy were determinants. In the first case, due to the advanced stage of the clinical signs, the patient died before direct interventions on the stenosis region were performed. But in the second case, the gastrostomy procedures for better feed management associated with esophageal dilatation by esophagoscopy and therapy with antacids resulted in clinical improvement.(AU)

Examining the socioeconomic effects on third molar maturation in a Portuguese sample of children, adolescents and young adults.

INTRODUCTION: The impact of socioeconomic status (SES) on tooth mineralization has seldom been evaluated. This is important because SES can be used as a proxy for quantifying factors in the environmental that can impact mineralization but that can be difficult to measure directly, such as nutrition. OBJECTIVE: The objective of this study was to examine the effects of SES on third molar mineralization, using a sample of children, adolescents and young adults from Porto, Portugal. METHODS: Panoramic x-rays from 1747 patients (842 males and 904 females) were used in this study. Eight hundred and fifteen individuals were patients attending a private practice and were classified as high SES (384 males and 458 females), whereas the remaining 932 subjects (458 males and 474 females) were patients attending the dental clinic at the Faculty of Dental Medicine, University of Porto and were classified as low SES. Inclusion of individuals on the each SES group was also based on parental and own occupation. The mandibular third molar was assessed for its maturation using Demirjian's stages. The median age of attainment of root stages was calculated for stages D to H, using logistic regression and compared between the high and low SES samples. RESULTS: Boys from the higher SES group show an earlier median age of attainment for stages D, E, and F. Girls from the higher SES group also show an earlier median age of attainment, but for stages D and E. Stages G and H did not show SES differences in both sexes. CONCLUSIONS: Patients from the higher SES group showed a consistent advancement in maturation of the third molar, although SES differences diminish and eventually disappear in the last stages of root maturation. An accelerated effect related to overweight and obesity is suggested as the primary explanation.

Stress, depressão e qualidade de vida em beneficiários de programas de transferência de renda / Stress, depression and quality of life in beneficiaries of social programs

O stress, como resposta a situações aversivas, pode ser associado à condição de baixo poder aquisitivo.Também a depressão, enquanto um transtorno que compromete a relação do indivíduo com seu ambiente,muitas vezes se relaciona a situações de risco socioeconômico. Ambos referem uma baixa qualidade devida. No presente estudo investigou-se a prevalência de stress e depressão e a percepção da qualidade devida em beneficiários de programas de transferência de renda. Utilizou-se o Inventário de Sintomas deStress para Adultos de Lipp, o Inventário de Depressão de Beck, o Instrumento Abreviado de Avaliaçãoda Qualidade de Vida e um Questionário Sociodemográfico. Os dados foram coletados em 1 98participantes, em sua maioria mulheres, sendo que 58% apresentaram stress e 41% indicativo dedepressão. A percepção média de qualidade de vida variou de 43,0 no domínio meio ambiente a 54,9 nopsicológico, em uma escala que vai de 0 a 1 00. Os resultados sinalizam que na amostra dos beneficiáriosde transferência de renda, o stress se apresentou não muito diferente de outras amostras da população. Noentanto, quanto ao indicativo de depressão e percepção de qualidade de vida este grupo demonstrouresultados mais desfavoráveis do que pessoas em geral. Stress, depressão e qualidade de vida semostraram correlacionados(AU)

The Emerging Role of Regucalcin as a Tumor Suppressor: Facts and Views.

Regucalcin (RGN) is a multifunctional protein that was first described as a calcium (Ca2+)-binding protein playing a relevant role in the maintenance of intracellular Ca2+ concentration. However, due to its downregulated expression with aging, RGN is also known as senescence marker protein-30. The RGN protein is an X-chromosome gene product, whose transcription is regulated by a myriad of hormonal and non-hormonal factors. Besides the well-known role in Ca2+ homeostasis, RGN has also been linked to the control of several intracellular signaling pathways, and basic biological processes, such as oxidative stress, cell proliferation, apoptosis, and metabolism. RGN has been shown to have antioxidant properties by its activity reducing the production of reactive oxygen species and increasing the antioxidant defenses. The role of RGN suppressing cell proliferation is associated with the regulation of expression of oncogenes and tumor suppressor genes. It results clear that all the existent knowledge implicates RGN in the control of the main biological processes actually recognized as the hallmarks of cancer. Moreover, it has been shown that tumor onset and progression are underpinned by the loss of RGN expression, whereas RGN overexpression showed to have a protective role against the development of chemicallyinduced tumors. This review describes the mechanisms that control the tissue expression of RGN and discusses the experimental evidence that indicate RGN as a new tumor suppressor protein.

Composição química e toxicidade frente Aedes aegypti L. e Artemia salina Leach do óleo essencial das folhas de Myrcia sylvatica (G. Mey. ) DC. / Chemical composition and toxicity against Aedes aegypti L. and Artemia salina Leach of the essential oil from Myrcia sylvatica (G. Mey. ) DC. leaves.

RESUMO A dengue está entre as doenças virais de propagação vetorial mais importante no mundo, causando sérios impactos de morbidade e mortalidade. Desta forma, o presente trabalho teve como objetivo analisar a composição química e a toxicidade do óleo essencial de Myrcia sylvatica (G. Mey) D.C. frente Aedes aegypti e Artemia salina. Folhas de M. sylvatica foram coletadas no Parque Nacional da Chapada das Mesas, no município de Carolina (MA) no mês de fevereiro de 2012. O óleo foi obtido por hidrodestilação e sua composição química foi determinada por cromatografia gasosa acoplada à espectrometria de massa (CG/EM). O bioensaio frente Artemia salina e às larvas de 3° estádio de Aedes aegypti foram realizados em diferentes concentrações. Os dados de mortalidade foram avaliados por regressão linear para determinar os valores de CL50. Obteve-se 0,5% de rendimento, sendo o (E)-cariofileno o constituinte majoritário. O óleo essencial apresentou uma CL50 = 79,44 µg/mL frente A. salina, sendo considerado altamente tóxico. No entanto, este óleo não demonstrou efeito sobre as larvas de A. aegypti. Considerando que o teste de Artemia salina tem correlação com atividades biológicas de grande interesse terapêutico como antitumoral, o óleo essencial das folhas de M. sylvatica demonstrou potencial para desenvolvimento de produtos farmacêuticos.

ABSTRACT Dengue is among the most important viral diseases of vector spread in the world, causing serious impacts of morbidity and mortality. Thus, this study aimed to analyze the chemical composition and toxicity of the Myrcia sylvatica (G. Mey.) DC essential oil against Aedes aegypti and Artemia salina Leach. Leaves of M. sylvatica. were collected in the Tables Chapada National Park, in the municipality of Carolina (MA) in february 2012. The oil was obtained by hydrodistillation and their chemical composition was determined by GC / MS. The bioassay front and Artemia salina larvae of the 3° stage of Aedes aegypti were performed at different concentrations. Mortality data were evaluated by linear regression to determine the LC50. Was obtained 0.5% yield values, and (E) -caryophyllene the major constituent. The essential oil showed a LC50 = 79.44 mg / mL front A. saline and is considered highly toxic. However, this oil showed no effect on larvae of A. aegypti. Whereas the brine shrimp test has regard to several biological activities, as antitumoral property, the essential oil from the leaves of M. sylvatica demonstrated potential for development of medicines.

Avaliação dos valores de troponina I, eletrocardiograma e ecocardiograma em felinos sedados com cetamina e midazolam, suplementados ou não com oxigênio / Troponin I, electrocardiography and echocardiography values in felines sedated with ketamine and midazolam, supplemented or not with oxygen

Lesões no miocárdio, causadas por baixa perfusão e oxigenação cardíaca, podem ser ocasionadas por fármacos anestésicos, como a cetamina. Essas lesões podem ser identificadas por meio de biomarcadores específicos e, dentre estes, destaca-se a troponina I. O objetivo deste estudo foi avaliar as alterações cardiovasculares com base nos valores de troponina I (TnI), eletrocardiograma (ECG) e ecocardiograma em gatos sedados com cetamina e midazolam, suplementados ou não com oxigênio. Utilizaram-se 12 gatos machos, hígidos, nos quais se avaliaram os valores de troponina I, eletro e ecocardiografia, frequência cardíaca (FC) e pressão arterial sistólica (PAS) no momento basal (M0). Na sequência, os animais foram sedados com a associação de 10mg.kg-1 de cetamina e 0,5mg.kg-1 de midazolam pela via intramuscular. Decorridos aproximadamente 10 minutos, os animais foram alocados aleatoriamente em dois grupos: com e sem suplementação de oxigênio via máscara facial (GCO e GSO, respectivamente), sendo submetidos novamente aos exames citados. Foram coletadas amostras sanguíneas, para dosagem de TnI em seis, 12 e 24 horas após a administração dos agentes anestésicos. Não foram observadas alterações significativas na FC, na PAS e no ECG após a administração dos tratamentos em ambos os grupos. Os valores médios de TnI elevaram-se significativamente em T6 quando comparados ao basal em ambos os grupos, com médias de 0,507±0,335ng/mL no GSO e 0,777±0,505ng/mL no GCO. Na ecocardiografia, o débito cardíaco (DC) reduziu em M1 em ambos os grupos, quando comparados aos valores basais, sendo M0 0,472±0,115 e M1 0,234±0,08 no GSO e M0 0,356±0,095 e M1 0,222±0,09 no GCO, expressos em L/min. Conclui-se que a administração de cetamina e midazolam em gatos hígidos não promove alterações eletrocardiográficas, aumenta os valores de troponina I, com pico de seis horas após a administração, reduz o débito cardíaco, e que a suplementação de oxigênio 100% via máscara facial não atenua tais alterações.

Myocardium injuries caused by low myocardial oxygenation and perfusion might be induced by anesthetics agents like ketamine. These injuries can be detected by specific biomarkers and, among them, troponin I. The aim of this study was to evaluate the cardiovascular changes based on troponin I (TnI) values, electrocardiography (ECG) and echocardiography in cats sedated with ketamine and midazolam, supplemented or not with oxygen. Blood samples were collected from 12 intact male healthy cats for troponin I (T0) and they were then submitted to electrocardiographic and echocardiographic evaluation, as well as measurements of heart rate (HR) and systolic blood pressure (SBP) (M0). Subsequently, they were ketamine-midazolam (10mg.kg-1 and 0,5 mg.kg-1 respectively) anesthetized by intramuscular route. After about 10 minutes, the animals were randomly allocated into two groups with or without oxygen supplementation (GCO or GSO, respectively), again being subjected to the tests mentioned. Blood samples for troponin I were collected at 6, 12 and 24 hours after sedation. HR, SBP and ECG did not change among groups. The TnI values rise significantly in T6 comparing to baselines in both groups (0,507±0,335 ng/mL in GSO and 0,777±0,505 ng/mL in GCO). In echocardiography, the cardiac output decreased at M1, in both groups compared to baseline (M0 0,472±0,115 and M1 0,234±0,08 in GSO and M0 0,356±0,095 and 0,222±0,09 in GCO, L/min). We concluded that ketamine and midazolam sedation in healthy cats did not cause changes electrocardiography, increase troponin I values, with an 6 hours peak after administration, reduces cardiac output and oxygen supplementation, via facial mask, did not attenuated these alterations.

Pubertad precoz periférica: disgenesia gonadal completa 46 XY / Peripheral precocious puberty: 46, XY complete gonadal dysgenesis

La pubertad precoz, a pesar de las definiciones clínicas estandarizadas y pruebas de diagnóstico disponibles, requiere, en ciertas situaciones una investigación exhaustiva y estructurada con el fin de conocer la causa. Niña de 4 años de edad, fenotípicamente de sexo femenino, enviada a la consulta de endocrinología pediátrica por pubarquia y telarquia. Se observó aceleración en la tasa de crecimiento con niveles altos de estradiol y testosterona, con determinaciones prepúberes de la hormona luteinizante y foliculoestimulante. El resto del estudio de pubertad precoz periférica mostró la presencia de gonadoblastoma bilateral. El estudio genético reveló cariotipo 46 XY con mutación c.89G> T (p.Arg30Ile) en el exón 1 del gen SRY, confirmando el diagnóstico de disgenesia gonadal completa. Los trastornos de la diferenciación sexual deben ser considerados en el abordaje y la investigación de las causas de la pubertad precoz periférica, especialmente en presencia de tumores de ovario, como gonadoblastoma y disgerminomas

Despite standard clinical definitions and availability of diagnostic tests for precocious puberty, an intensive and structured investigation is needed in order to diagnose the aetiology in particular cases. A 4-year-old, phenotypically female child was referred to paediatric endocrinology consultation for premature pubarche and thelarche. There was an acceleration of growth velocity with high levels of estradiol and testosterone, and prepubertal FSH and LH measurements. Investigation showed bilateral gonadoblastoma as the cause of the peripheral precocious puberty. Genetic studies revealed 46 XY karyotype with mutation c.89G> T (p.Arg30Ile) in exon 1 of the SRY gene, confirming the diagnosis of complete gonadal dysgenesis. Disorders of sexual differentiation must be considered in the approach and investigation of peripheral precocious puberty, especially in the presence of ovarian tumours, such as gonadoblastoma and dysgerminoma

[Peripheral precocious puberty: 46, XY complete gonadal dysgenesis]. / Pubertad precoz periférica: disgenesia gonadal completa 46 XY.

Despite standard clinical definitions and availability of diagnostic tests for precocious puberty, an intensive and structured investigation is needed in order to diagnose the aetiology in particular cases. A 4-year-old, phenotypically female child was referred to paediatric endocrinology consultation for premature pubarche and thelarche. There was an acceleration of growth velocity with high levels of estradiol and testosterone, and prepubertal FSH and LH measurements. Investigation showed bilateral gonadoblastoma as the cause of the peripheral precocious puberty. Genetic studies revealed 46 XY karyotype with mutation c.89G> T (p.Arg30Ile) in exon 1 of the SRY gene, confirming the diagnosis of complete gonadal dysgenesis. Disorders of sexual differentiation must be considered in the approach and investigation of peripheral precocious puberty, especially in the presence of ovarian tumours, such as gonadoblastoma and dysgerminoma.

Timing of fusion of the ischiopubic ramus from dry bone observations.

There is little information about the age at which the ischiopubic ramus fuses derived from dry bone observations. This study documents the age ranges for union of the ischiopubic ramus in a sample of 148 known sex and age skeletons from Portugal, with ages ranging from birth to 20 years, using a three-stage scheme. The oldest female with an unfused ramus is 11 years old and the oldest male is 8 years old. The youngest male with a completely fused ramus is 7 years old, and the youngest female is 5 years old. Despite the relatively large sample size, partial fusion was a rare event to record as only two individuals were at this stage and these seemed relatively older than expected (12 and 14 years of age). The likely age interval for partial union of the ramus was subsequently estimated from logistic regression, for both sexes separated and combined. In the sex-pooled sample, the inter-quartile range (25th-75th percentile) for the median age of fusion is 7-11 years and the 10th-90th percentile range is 4-15 years. The scarcity of data on the age of ischiopubic fusion may be related to biases in the sample or to fusion occurring rapidly in this anatomical location. Additional studies may be required to assess the accuracy of the ages reported here, but at present this study provides the most comprehensive assessment of timing of fusion at the ischiopubic ramus from observations of dry bone specimens.