A typical Say-Barber-Biesecker/Young-Simpson syndrome caused by heterozygous mutation of KAT6B gene / 中华实用儿科临床杂志

A patient with global developmental delay and facial abnormality treated in Hunan Maternal and Child Health Care Hospital in September 2018 was diagnosed as a typical Say-Barber-Biesecker/Young-Simpson syndrome (SBBYSS)accompanied with comprehensive clinical manifestations and genetic testing was carried out.The patient carries a heterozygous synonymous mutation of KAT6B gene (NM_012330.3)c.3147G>A (p.P1049P), thus leading to the formation of a new cleavage site (receptor) and forming a new truncated protein.In Chinese, this is the second typical SBBYSS that has been identified and the first prenatal genetic diagnosis has been performed.This study has broadened the mutation spectrum of SBBYSS caused by the mutation of KAT6B gene in Chinese population.

Evaluación de la calidad del agua de un río tropical usando índices bióticos, fisicoquímicos y de diversidad / Water quality assessment of a tropical stream using biotic, physicochemical and diversity indices

Introducción: Los ríos andinos en Colombia están fuertemente influenciados por diferentes actividades antrópicas. Los macroinvertebrados han sido utilizados para evaluar la calidad del agua en estos ecosistemas. Objetivo: Este estudio analizó el comportamiento de diferentes índices basados en macroinvertebrados para evaluar la calidad del agua del tramo medio-bajo del río Jordán en Jamundí (Colombia). Materiales y métodos: Se ubicaron tres estaciones de muestreo: E1 (1173 m.s.n.m.), E2 (1069 m.s.n.m.) y E3 (1019 m.s.n.m.). Se colectaron individuos en grava, bolos y macrófitas (n=15) y se midieron las concentraciones de variables fisicoquímicas y microbiológicas (n=15). Se evaluaron los índices de calidad de agua ICA-NSF y bióticos (BMWP/Univalle, ASPT y EPT) y los índices de Shannon-Weaver, Margalef y Simpson. Se realizó una correlación de Spearman entre las matrices de similitud biótica y ambiental. Resultados: El ICA-NSF presentó variaciones espacio temporales no significativas entre las estaciones de muestreo, con calidades de agua entre "regular" y "excelente". Los índices de diversidad mostraron que la equidad y riqueza son mayores en la estación E1. El BMWP/Univalle evidenció la influencia de las diferentes actividades sobre la subcuenca del río Jordán, clasificando la estación E1 como "Buena", E2 "Aceptable" y E3 "Dudosa". Las variables que mejor explicaron el patrón de diversidad fueron las asociadas a la contaminación orgánica (DBO5 y Coliformes totales). Conclusiones: Integralmente, los índices muestran que la mejor calidad del agua se presenta en la estación E1 donde la influencia de las actividades antrópicas es menor.

Introduction: Andean rivers in Colombia are heavily influenced along the drainage basin by various human activities. Aquatic macroinvertebrates have been used in different water environments to assess water quality in rivers. Objective: This study analyzed the behavior of different biotic indices to assess water quality of the lower middle section of the Jordan River in the department of Valle del Cauca, Colombia. Materials and methods: Sampling sites were situated at different altitudes as well with different anthropogenic influences. Physicochemical and microbiological parameters (n = 15) were measured, simultaneously with biological variables. Individuals were collected in gravel, pebbles and macrophytes (n = 15) using Surber nets (0.36 m2, 500 µm) a screen net (1.6 m2, 350 µm) and a D-net (0.9 m2, 500 µm). The water quality index (NSF ICA), biotic indices BMWP/Univalle, ASPT, EPT, and the Shannon-Weaver Equity index, Margalef Diversity index and Simpson's dominance index were evaluated to determine the macroinvertebrate assemblage through sampling sites. Spearman correlation between matrices of biotic and environmental similarity, using PRIMER® software was used to determine relationship between physicochemical variables and biodiversity. Results: The water quality index ICA-NSF showed spatio-temporal variations with water qualities between "regular" and "excellent". Diversity indices showed that equity and wealth are greater at site E1, where the influence of pollution is low. Biotic indices behaved variably, BMWP/Univalle index reflected more adequately the influence of human activities of the Jordan River sub-basin. Conclusions: The variables that best explained the pattern of diversity were those associated with organic pollution (BOD5 and total coliforms).

Discussion on Within-cycle Correction of Markov Model in Pharmacoeconomic Evaluation / 中国药房

OBJECTIVE：To pro vide reference for reducing the error of Markov model in pharmacoeconomic evaluation. METHODS：Referring to foreign literatures ，the errors in Markov model were explained. The commonly used correction methods were introduced ：half-cycle correction ，trapezoidal rule ，Simpson’s 1/3 rule，Simpson’s 3/8 method and life table method and their implementation in Excel and TreeAge software. RESULTS & CONCLUSIONS ：The error of Markov model was caused by the discretization process and could be corrected by the within-cycle correction methods. Half-cycle correction ，was the most commonly used correction method and could be corrected by adding half of the results of the first cycle and subtracting half of the results of the last cycle. By trapezoidal rule ，the interval was represented by the mean value of the first end point value of the interval ，and the area of right trapezoid was the cummulative result. Simpson’s 1/3 rule and Simpson ’s 3/8 rule took another point in the interval on the basis of trapezoidal correction and the continuous curve where these three points were represented the whole curve. By life table method ，the person-years of survival was the product of the group distance of the age group and the mean value of the number of survivors of the age group and the next age group ，and the total person-years of survival was the sum of person-years of survival of each age group. In Excel ，the fuction was set according to the method principle to realize the correction ；in Tree Age software，the function expression of Init Rwd ，Inor Rwd and Final Rwd were set to realize the correction. When using Markov model for pharmacoeconomic evaluation ，if the selection of periodic correction method is based on the ease of modeling and the universality of application ，the trapezoid rule method is recommended ；based on the accuracy of results ，it is suggested to use Simpson’s 1/3 method，so as to improve the accuracy of Markov model.

A Retrospective Study of Histopathology and Clinical Correlation of Spinal Meningioma at Thoothukudi Medical College, India

The study was conducted to understand the clinical algorithm of spinal meningioma. Correlation was done by clinical presentation with radiological features and histopathology .The stress upon to understand the necessity for a team-approach between Clinician, Radiologist and Pathologist and vice versa is emphasised. Aim: To correlate histopathology of spinal meningioma with the Clinical features. Methods: This is a retrospective study of spinal tumours, diagnosed by histopathology as various types of meningioma. All the relevant clinical data of the patients were searched from the ward records. The various Radiological features were collected. Results: The total number of spinal tumours studied during the 8 years period was 86 cases among which 25 cases were diagnosed by histopathology as various types of meningioma conclusively. Spectroscopy provides molecular information with regard to meningiomas and potentially aid in biopsy planning. Surgical resections were done as follows: 20 cases resected as Simpson Grade 1, 5 cases resected as Simpson Grade 2. Venous thromboembolism was seen in 1 patient. Four cases underwent follow up Adjuvant External Beam Radiotherapy. Conclusion: The Simpson grading of resection of meningioma correlated the degree of surgical resection completeness with symptomatic recurrence. Four cases underwent follow up Adjuvant External Beam Radiotherapy with good results .Spinal meningioma needs correlation between Radiologist, Pathologist and Clinician.

A Retrospective Study of Incidence, Pathological Nature &Surgical Outcome of Intracranial Meningiomas

Background: Although meningiomas represent only ~20% ofintracranial tumors, they have been referred to as “the soul ofneurosurgery.” Meningiomas are the most common nonglialprimary tumors of the central nervous system, representing 15to 20% of primary brain tumors. Peak incidence occursbetween the fourth and sixth decades. The female/male ratio isreported variously as 2:1 to 4:1. Management of meningiomacan be done either by surgery, by radiotherapy or by medicaltreatment or combination of any of three approaches.Aims & objectives: The aims & objectives of this study wereto identify the incidence and pathological nature of intracranialmeningiomas. Also to study surgical outcomes of patientsundergoing intracranial meningioma surgery.Methods & Materials: This study was done at neurosurgerydepartment at a tertiary care centre. Retrospective analysis ofdata collected through hospital information system of patientsoperated for intracranial meningiomas between September2014 & March 2017.Results: In present study of 100 cases of intracranialmeningioma, majority were occurring at convexity 34 (34%)followed by falcine 14 (14%), sphenoid wing 10 (10%) etc. Outof 100 cases around 70% cases occurred in 4th, 5th and 6thdecade. There was a female preponderance in our series witha male:female ratio of 1:1.63. The most commonhistopathological type of tumor was meningothelialmeningioma (38%) followed by others. The commonestcomplication noted in present series was post-operative limbweakness either hemiparesis or monoparesis. Overall outcomeafter surgery was seen as 66% neurologically intact patientsand mortality was only 6%.Conclusion: Present study reported that maximum incidenceof meningiomas is in 3rd, 4th & 5th decade and Females weremore affected than male with ratio of 1.63:1. In our study themost common histopathological type of tumor wasmeningothelial meningioma. The most common complicationswere limb weakness, followed by decreased vision and lowercranial nerve palsy which improved with time.

Comparación del gasto cardiaco medido a través del volumen sistólico en modo bidimensional versus ecuación de continuidad en pacientes de terapia intensiva del Hospital General «Las Américas¼ / Comparison of cardiac output measured through the systolic volume in two-dimensional mode versus continuity equation in intensive care patients of the General Hospital «Las Américas¼ / Comparação do dédito cardíaco medido através do volume sistólico em modo bidimensional versus equação contínua em pacientes de terapia intensiva do Hospital Geral «Las Américas¼

Resumen: La ecocardiografía realizada por especialistas no radiólogos es una herramienta que contribuye al diagnóstico y monitoreo de los pacientes críticos, además de ser una herramienta económica, precisa, no invasiva y que se puede realizar a la cabecera del paciente. La medida del gasto cardiaco se refiere a la cantidad de sangre que sale de los ventrículos del corazón a la circulación mayor o menor; en el ámbito de la medicina crítica, es una medida muy importante para verificar el diagnóstico etiológico del estado de choque y además se utiliza para guiar el manejo de los pacientes. Nuestro estudio comparó la medida de gasto cardiaco medido a través del volumen sistólico en modo bidimensional versus ecuación de continuidad.

Abstract: The echocardiography performed by non-radiological specialists is a tool that contributes to the diagnosis and monitoring of critical patients, as well as being an inexpensive, accurate, non-invasive tool that can be performed at the patient's bedside. The measurement of cardiac output refers to the amount of blood sold from the ventricles of the heart to the major or minor circulation in the field of critical medicine is a very important measure to verify the diagnosis and the state of the shock syndrome and if it is used to guide the management of patients, our study compared the measurement of cardiac output through systolic volume in two-dimensional mode versus the continuity equation.

Resumo: O ecocardiograma realizado por não radiologistas é uma ferramenta que contribui para o diagnóstico e acompanhamento de pacientes críticos, além de ser uma ferramenta não invasiva, de baixo custo e que pode ser realizada à beira do leito. A medida do débito cardíaco refere-se à quantidade de sangue que sai dos ventrículos cardíacos até a maior ou menor circulação. No campo da medicina crítica é uma medida muito importante para verificar o diagnóstico etiológico do estado de choque e também é utilizada para orientar o manejo dos pacientes. Nosso estudo comparou a medida do débito cardíaco medida através do volume sistólico no modo bidimensional versus a equação de continuidade.

A study of clinical manifestations of right ventricular myocardial infarction

Introduction: Myocardial Infarction is the term used when the myocardium is necrosed due to ischemia. It may be trans mural or subendocardial. Inferior wall infarction has got some special features like the association with Right ventricular infarction and Brady arrhythmias especially sinus bradycardia and heart blocks. Clinically Right Ventricular Myocardial Infarction can be suspected when a patient with Inferior Wall Myocardial Infarction presents with elevated JVP, positive Kussmaul's sign, hypotension, right-sided third or fourth heart sounds, tender hepatomegaly, and oliguria rarely TR and clear chest. Aim of the study: To study the various clinical manifestation of Right Ventricular Myocardial Infarction. To study the Clinical profile, Risk factors, ECG features, Complications and Outcome of Right Ventricular Myocardial Infarction. Materials and methods: This study was mainly conducted to find out the clinical manifestations of right ventricular myocardial infarction and its risk factors, ECG features, complications and outcome of RVMI. All patients admitted to Intensive Coronary Care Unit with ST elevation in V4R were taken for study. Presence of an aneurysm, mitral regurgitation, left ventricular clot or pericardial effusion was noted. Ejection fraction was determined by-Mode and2-D using Simpson’s rule. Results: During the study period 474 cases of acute myocardial infarction were admitted and. Out of 474 cases, 242 were acute inferior wall myocardial infarction. 106 cases showed evidence of right ventricular myocardial infarction in ECG. All the 106 cases were associated with inferior wall myocardial infarction. Angina was present in 73% of patient. Angina was equivalent to 27%. All patients with chest pain were associated with sweating. Nausea, vomiting, and Indigestion were the V. Magesh, Karthikeyan K. A study of clinical manifestations of right ventricular myocardial infarction. IAIM, 2018; 5(1): 121-128. Page 122 common presenting angina equivalents in young. Dyspnea was the predominant symptom in elderly people. Most of the patients with angina equivalents were Diabetes. Conclusion: All cases of Inferior Wall Myocardial Infarction should have Right sided chest leads recorded during ECG examination as more the ST elevation more the severity of Right Ventricular Myocardial Infarction and its complications and mortality rate. If the diagnosis of Right Ventricular Myocardial Infarction is correctly made earlier and thrombolysed the prognosis is usually good even in patients with complications.

Identifying the KAT6B Mutation via Diagnostic Exome Sequencing to Diagnose Say-Barber-Biesecker-Young-Simpson Syndrome in Three Generations of a Family

Diagnostic exome sequencing (DES) is a powerful tool to analyze the pathogenic variants leading to development delay (DD) and intellectual disability (ID). Recently, heterozygous de novo mutation of the histone acetyltransferase encoding gene KAT6B has been recognized as causing a syndrome with congenital anomalies and intellectual disability, namely Say-Barber-Biesecker-Young-Simpson (SBBYS) syndrome. Here we report a case of SBBYS syndrome in a third generation Korean family affected with a missense mutation in KAT6B, c.2292C>T p.(His767Tyr) identified by DES. This is the first confirmed familial inherited mutation of the KAT6B reported worldwide. Our case emphasizes again the importance of basic physical examination and taking a family history. Furthermore, advances in genetic diagnostic tools are becoming key to identifying the etiology of DD and ID. This allows a physiatrist to predict the disease's clinical evolution with relative certainty, and offer an appropriate rehabilitation plan for patients.

Clinical diagnostic analysis of simpson intracranial malignant meningioma in 29 cases / 中国综合临床

Objective To explore the methods for diagnosis and treatment of malignant meningioma.Methods The clinical data of twenty-nine patients with malignant meningioma were retrospectively analyzed.Results Among the 29 patients,15 underwent Simpson Ⅰ resection,8 underwent Simpson Ⅱ resection and 6 had Simpson Ⅲ resection.Among these patients,Twenty-five cases were successfully followed up for 20-100 months.There are 11 cases who occurred relapse (44％),of whom 2 received Simpson Ⅰ resection,3 received Simpson Ⅱ resection and all the 6 cases receiving Simpson Ⅲ cases.Conclusion Head CT and MRI examination is helpful to diagnose malignant meningioma.The treatment mainly involved surgical resection combined with radiation and chemotherapy,with high postoperative recurrence rate and short survival time depending on the differentiation of the tumor.

Comparison of diversity indices applied to macrophyte incidence-based data

In this work, a recently proposed diversity index based on Patil and Taillie parametric diversity measure (or Tsallis entropy), Sq*, was applied to samples (presence-absence data) of macrophytes from the Itaipu Reservoir, Brazil. This new index was the value of the family of indices Sq for a specific evenness of a sample. Results demonstrated that the Shannon index and species richness showed expressively high correlation with the Sq*; however, the evenness had low correlation coefficients with the index Sq*, indicating that Sq* was particularly sensitive to rarity and species richness. On the other hand, the weak correlations of this index with evenness demonstrated that it was less sensitive to species relative abundances.

El tumor de Wilms. Un paradigma de heterogeneidad genética: a paradigm of genetic heterogeneity / Wilm's toumor

El Tumor de Wilms constituye el más frecuente de los cánceres renales pediátricos, aparece antes de los 5 años de edad y con igual frecuencia en ambos sexos. El gen causante de la enfermedad está localizado en 11p13, se extiende unas 50 kb con 10 exones y sus alteraciones pueden ser tanto genéticas como epigenéticas. Por diferentes mecanismos se originan al menos 24 productos con funciones diversas. Existen otras regiones cromosómicas, cuyas alteraciones pueden dar lugar a la aparición del tumor. En este sentido, el Tumor de Wilms es un ejemplo sobresaliente de heterogeneidad genética. El presente trabajo hace un análisis de los fundamentos moleculares de la enfermedad y presenta a modo de ilustración una breve reseña de los principales síndromes hereditarios con predisposición a presentar este tumor.

Wilm's tumor is the most frequent cancer of the kidney in childhood with onset before five year old. WT gene was mapped in 11p13 and span 50 kb with 10 exons. WT modifications would be either genetics or epigenetics. The gene code for at least 24 isoforms of protein products. Other chromosomes loci whose alterations may be cause of disease have been identified, so Wilm's tumor is a remarkable paradigm of genetic heterogeneity. In this paper an analysis of the molecular basis of the disease is presented and, also, a brief references on main hereditary syndromes which include Wilm's tumor.

Evaluation of Left Atrial Volumes Using Multidetector Computed Tomography: Comparison with Echocardiography

OBJECTIVE: To prospectively assess the relationship between the two different measurement methods for the evaluation of left atrial (LA) volume using cardiac multidetector computed tomography (MDCT) and to compare the results between cardiac MDCT and echocardiography. MATERIALS AND METHODS: Thirty-five patients (20 men, 15 women; mean age, 60 years) underwent cardiac MDCT angiography for coronary artery disease. The LA volumes were measured using two different methods: the two dimensional (2D) length-based (LB) method measured along the three-orthogonal planes of the LA and the 3D volumetric threshold-based (VTB) method measured according to the threshold 3D segmentation of the LA. The results obtained by cardiac MDCT were compared with those obtained by echocardiography. RESULTS: The LA end-systolic and end-diastolic volumes (LAESV and LAEDV) measured by the 2D-LB method correlated well with those measured by the 3D-VTB method using cardiac MDCT (r = 0.763, r = 0.786, p = 0.001). However, there was a significant difference in the LAESVs between the two measurement methods using cardiac MDCT (p < 0.05). The LAESV measured by cardiac MDCT correlated well with measurements by echocardiography (r = 0.864, p = 0.001), however with a significant difference (p < 0.01) in their volumes. The cardiac MDCT overestimated the LAESV by 22% compared to measurements by echocardiography. CONCLUSION: A significant correlation was found between the two different measurement methods for evaluating LA volumes by cardiac MDCT. Further, cardiac MDCT correlates well with echocardiography in evaluating the LA volume. However, there are significant differences in the LAESV between the two measurement methods using cardiac MDCT and between cardiac MDCT and echocardiography.

Umidade de equilíbrio da madeira de angelim vermelho (Dinizia excelsa Ducke ), guariúba (Clarisia racemosa Ruiz & Pav. ) e tauarí vermelho (Cariniana micrantha Ducke) em diferentes condições de temperatura e umidade relativa / Wood equilibrium moisture content of angelim vermelho (Dinizia excelsa Ducke ), guariúba (Clarisia racemosa Ruiz & Pav. ) and tauarí vermelho (Cariniana micrantha Ducke) at different conditions of temperature and relative humidity

A umidade de equilíbrio deve ser determinada para o local onde a madeira será empregada. Isto pode ser feito através da determinação da umidade das amostras de madeira expostas às condições ambientais de temperatura e umidade relativa em ensaios de campo, de laboratório equipado com câmara de climatização ou estimativas por meio de modelos matemáticos. Neste trabalho foi determinada a umidade de equilíbrio da madeira - UEM do angelim vermelho (Dinizia excelsa Ducke), guariúba (Clarisia racemosa Ruiz & Pav.) e tauarí vermelho (Cariniana micrantha Ducke ), em duas condições de temperatura e três de umidade relativa em câmara de climatização. Encontrou-se diferenças entre a umidade de equilíbrio estimada pela equação de Simpson (1971) e o valor real determinado em câmara climática. Na simulação de ensaio a 25º C de temperatura e umidade relativa de 40% a UEM ficou em média 26,6% superior ao valor estimado pela equação de Simpson (1971), constituindo-se na maior variação. A menor variação foi de 2,1% registrada na espécie angelim vermelho na condição de 35º C e 80% de umidade relativa. A equação de Simpson, no geral, tendeu a superestimar os valores de UEM nas três espécies.

The equilibrium moisture content (EMC) of wood must be determined according to the place where wood is to be used. Moisture content can be determined from wood samples exposed to environmental conditions of temperature and relative humidity in the field, a laboratory equipped with environmental chambers, or by mathematical model calculations. The EMCs of angelim vermelho (Dinizia excelsa Ducke), guariúba (Clarisia racemosa) and tauarí vermelho (Cariniana micrantha Ducke) were determined in a environmental chamber at two temperatures and three relative humidity conditions. Differences were found between the EMC estimated by the Simpson’s equation (1971) and the real value determined in environmental chamber. Large discrepancies, averaging 26,6%, were found at 25oC and 40% relative humidity. The minimum discrepancies, averaging 2,1%, were determined on angelim vermelho at 35oC and 80% relative humidity. In general, the Simpson’s equation overestimated the EMC values for the three species.

Analysis of 120 surgical cases with convexity meningioma / 中国医师进修杂志

Objective To analyze the patients with convexity meningioma with respect to pathological factors leading to recurrence, surgical technique, and complication. Methods The data of 120 surgical cases of convexity meningioma were retrospectively reviewed. Statistical analysis were performed by SPSS 17.0 with method of Kaplan-Meier survival analysis. Results The 30-day mortality was 0. The pathology of the tumors was benign in 105 cases (87.5%), atypical meningioma in 12 cases (10.0%), and anaplastic/malignant meningioma in 3 cases (2.5%). In 8 cases designated benign, there were borderline atypical features. Two cases of benign tumor recurred whose pathology involved tumors with borderline atypia.Conclusions Patients with convexity meningioma should be actively operated, and Simpson Ⅰ resection must be performed to the best of ability whether the tumors are benign or malignant. Further postoperative adjuvant treatment will be implemented or not according to the histopathological types of the tumors. Although there are many factors of recurrence for convexity meningioma. The range of surgical resection and pathological types are still the important causes for recrudescence.

Anesthetic managements for repair of atrial septal defect in a patient with Young-Simpson Syndrome: A case report / 대한마취과학회지

Young-Simpson Syndrome (YSS) is a rare malformation syndrome characterized by facial dysmorphism, congenital heart abnormalities, congenital hypothyroidism and severe growth retardation. A 5-month-old girl was scheduled to undergo patch closure of atrial septal defect. She had been diagnosed with YSS preoperatively. We report out clinical experience of a case of YSS patient with brief review of related literatures and relevant anesthetic problems.

A Case of Young-Simpson Syndrome / 소아과

Young Simpson syndrome is a rare malformation syndrome characterized by congenital hypothyroidism, dysmorphic face, mental retardation, severe postnatal growth retardation, hypotonia and congenital heart abnormalities. In the present study, we report a case of 4-year-old girl with Young Simpson syndrome for the first case in Korea.