The Synthesis and Anion Binding of Novel Cholic Acid-based Molecular Clefts Containing Unsymmetrically Disubstituted Urea Unit

A novel type of chiral molecular clefts consisting of a rigid deoxycholic acid methyl ester backbone and chiral unsymmetrically disubstituted urea side chain have been designed and synthesized. All these new receptors 3a^c and the corresponding key intermediates 1a^c and 2a^c are new compounds, their structures were confirmed by 1HNMR, IR, MS spectra and elemental analysis. These molecular clefts showed binding ability for halide anions.

Non-Random Distribution of Human Orofacial Clefts in Ghana: Gene-Environment Interactions

Human orofacial clefts (OFCs) are congenital anomalies that result from the breakdown of normal mechanisms that regulate the formation of the human face. They could be syndromic or non-syndromic, with a global incidence of 1:700 per live births. Environmental and genetic factors are thought to play various roles in the aetiology of OFCs. This study seeks to establish the diversity, distribution and pattern of inheritance of OFCs as well as environmental and other risk factors associated with OFCs in a Ghanaian population. A family-based, descriptive cross-sectional study that employed an interview-based survey questionnaire was used to obtain information from 467 families with history of OFCs. We employed chi-square statistics to analyse the data and used graphs to interpret the data. All previously reported subphenotypes of OFCs were observed by the present study. Clinically, about 12% of clefts in the study population were syndromic. The most common syndromic forms observed were Pierre Robin Sequence, cleft-with-club foot abnormalities and Van der Woude Syndrome. Only about 5% of clefts in the study cohort were familial. The study also established that lower level of education of parents, poverty, late antenatal care and dietary folate deficiency are major environmental factors associated with clefts in the Ghanaian population. In conclusion, OFCs are non-randomly distributed in Ghana and folate deficiency could likely be a source of genetic mutations and “epimutations” that cause OFCs, since folate is essential for DNA methylation, replication and repair as well as histone modification.

Naso-Labio-Palatine Clefts: Humanitarian Care in Togo

Introduction: The management of nasolabial-palatal clefts in precarious environments is one of the topics most addressed by many humanitarian missions, especially in Africa and Asia. The aim of our study was to propose a humanitarian and not expensive care to the patients presenting with facial clefts during the fairgrounds in disadvantaged areas. Patients and Method: We carried out a prospective study on 32 patients who were operated with very limited means during the mobile clinics inside Togo during the year 2013. These patients were followed over a period of one year after their surgery. Included in our series were native patients with facial clefts, who had no means of managing their condition, and who therefore needed humanitarian support. We have reported the clinical history of some patients to illustrate our results. Results: Our study included 32 children, including 15 boys and 17 girls, with a sex ratio of around 1. The average age of patients was 5 years, with extremes of 6 months and 13 years. We performed 13 clefts (including 12 unilateral clefts and 1 bilateral cleft), 17 clefts palate (including 12 unilateral clefts and 5 bilateral clefts), and 2 velar clefts. We described the clinical history of a few patients in this humanitarian setting and showed the surgical results obtained.

The Evaluation of the Patients with Clefts in Aegean Region in Turkey between the Years 2000 to 2011

Purpose: The evaluation of the patients with clefts;the number, type, distribution by gender, etiological factors in Aegean region in Turkey between the years 2000 to 2011. Material and Method: The patients with clefts who referred to Ege University from different cities were evaluated. The number of the clefts, the type of the clefts, and the causative etiological factors which were known, were recorded for each year separately, from 2000 to 2011. At the same time, the distribution of the gender was made for each year. Chi-square test is used for the statistical evaluation. Results: According to the results of the study, the numbers of the patients with clefts were increased day by day. Totally 741 (49.6% female, 50.4% male) patients with clefts were identified. Unilateral complete cleft lip and palate appeared in the left side was seen more in males (23.8%), while seconder palate cleft was seen more in females (16.7%). Drugs, which were used in the first trimester of the pregnancy, were the most seen etiological factors for the clefts (42.5%), while genetic was 23.3% only. Conclusion: The prevention for one of the mostly seen congenital anomaly;cleft lip and palate is still unknown. For this reason, the determination of the newborn babies with cleft lip and palate has an important role in order to give these patients more effective treatment.

Microwave assisted one-pot synthesis of novel molecular clefts with only one chiral arm based on deoxycholic acid

A rapid, safe, and efficient method for the synthesis of novel molecular clefts based on deoxycholic acid was reported. Seven new molecular clefts have been synthesized in good yields （89-98%）. This method proved to be extremely simple and highly efficient. The structures of these receptors were confirmed by 1H NMR, IR, MS spectra and elemental analysis. 2007 Zhi Gang Zhao. Published by Elsevier B.V. on behalf of Chinese Chemical Society. All rights reserved.

Identification of shared and unique gene families associated with oral clefts

Oral clefts, the most frequent congenital birth defects in humans, are multifactorial disorders caused by genetic and environmental factors. Epidemiological studies point to different etiologies underlying the oral cleft phenotypes, cleft lip(CL),CL and/or palate(CL/P) and cleft palate(CP). More than 350 genes have syndromic and/or nonsyndromic oral cleft associations in humans. Although genes related to genetic disorders associated with oral cleft phenotypes are known, a gap between detecting these associations and interpretation of their biological importance has remained. Here, using a gene ontology analysis approach, we grouped these candidate genes on the basis of different functional categories to gain insight into the genetic etiology of oral clefts. We identified different genetic profiles and found correlations between the functions of gene products and oral cleft phenotypes. Our results indicate inherent differences in the genetic etiologies that underlie oral cleft phenotypes and support epidemiological evidence that genes associated with CL/P are both developmentally and genetically different from CP only, incomplete CP, and submucous CP. The epidemiological differences among cleft phenotypes may reflect differences in the underlying genetic causes. Understanding the different causative etiologies of oral clefts is important as it may lead to improvements in diagnosis, counseling, and prevention.

Updating Genetics Polymorphisms of Non-Syndromic Clefts Lip-Palates

Introduction: Non-Syndromic Clefts Lip-Palates (NSCLP/CP) are most common congenital malformation in the world, with very important psychic and social impact. Formation of NSCLP/CP arises from the interaction of environmental and genetic factors. This paper provides a review of recent progress in defining the genetic causes of NSCLP. Methods: A literature review was conducted on the Medline data by searching for the following keywords: genes, non-syndromic cleft lip-palate, and genetics of clefts lip-palates, until January 2018. Results: Various genes are identified in different population and country, with the study using case parent’s trio. The aim of this study contributes to review relative gene which has been identify in non-syndromic cleft lip and palate, and to help to have a better understanding of the inheritance pattern of this pathology and the prevention of genetic disease. Conclusion: Although three major genes have been confirmed, the genetic research is necessary to provide an understanding of the pathophysiology of the clefts lip-palates.

Immunisation Status of Children Born with Orofacial Clefts Who Visited the Komfo Anokye Teaching Hospital (KATH) Multidisciplinary Cleft Clinic

Background: The Ghana Expanded Programme on Immunisation recommends that children receive Bacillus Calmette-Guerin (BCG) and Oral Polio Vaccine (OPV) at birth;three doses of Penta vaccine and OPV at 6, 10 and 14 weeks of age;and measles vaccine at 9 months of age. Aim/Objective: To evaluate the immunisation status of children born with orofacial clefts who visited the KATH multidisciplinary Cleft clinic. Methodology/Statistics: The study was a descriptive study with a cross-sectional design. The methodology consisted of in-person interviews of mothers of children born with cleft lip and palate reporting at KATH Cleft clinic. Interview guides were used for mothers who could not read. Mothers who were literate and as such could answer the questions directly were given questionnaires to fill. Result: It was reported that of the 83 children included, 47 (57%) had been fully vaccinated and on time, 24 (29%) had been fully vaccinated but delayed and 12 (14%) had not been vaccinated at all. Children with isolated cleft palate and macrostomia were fully vaccinated on time (77.3% and 100%, respectively) as compared to those with combined cleft lip and palate (43.3%) and isolated cleft lip (50.0%). The majority (77%) of the mothers who either had not vaccinated their children or had delayed in vaccinating them attributed stigmatisation as the main cause. Most of the mothers (95%) had knowledge of immunisation. About two-thirds of the mothers (65%) agreed that establishing an immunisation centre at the cleft clinic is the best way to improve immunisation rate among children with orofacial clefts. Conclusion: The study showed that the percentage of children with orofacial cleft who visited the KATH Cleft Clinic and were vaccinated on time was above the national average. Cleft palates were more vaccinated and on time than cleft lips. According to the children’s mothers, lack of timely vaccination was mainly due to the stigma associated with clefts in their societies.

Rare loss-of-function variants in FLNB cause non-syndromic orofacial clefts

Orofacial clefts (OFCs) are the most common congenital craniofacial disorders, of which the etiology is closely related to rare coding variants. Filamin B (FLNB) is an actin-binding protein implicated in bone formation. FLNB mutations have been identified in several types of syndromic OFCs and previous studies suggest a role of FLNB in the onset of non-syndromic OFCs (NSOFCs). Here, we report two rare heterozygous variants (p.P441T and p.G565R) in FLNB in two unrelated hereditary families with NSOFCs. Bioinformatics analysis suggests that both variants may disrupt the function of FLNB. In mammalian cells, p.P441T and p.G565R variants are less potent to induce cell stretches than wild type FLNB, suggesting that they are loss-of-function mutations. Immunohistochemistry analysis demonstrates that FLNB is abundantly expressed during palatal development. Importantly, Flnb^(−/−) embryos display cleft palates and previously defined skeletal defects. Taken together, our findings reveal that FLNB is required for development of palates in mice and FLNB is a bona fide causal gene for NSOFCs in humans.

低温等离子治疗儿童鼻咽部第二鳃裂囊肿分析

目的探讨儿童鼻咽部第二鳃裂囊肿的临床特征和治疗方式,提高诊治能力。方法回顾性分析河北省儿童医院收治的4例儿童鼻咽部第二鳃裂囊肿的临床资料,包括年龄、性别、症状、影像学资料和治疗过程。总结分析病变部位特点,B超、CT或MRI特征,术后病理结果及治疗方式。结果4例鼻咽部第二鳃裂囊肿患儿均表现为鼻咽侧壁咽鼓管咽口与腭咽弓后上方连线上的囊性肿物,囊壁较厚,影像学检查结果均为囊性病变。4例患儿选择内镜下低温等离子病变切除术,其中2例为内侧囊壁大部分切除术,将囊腔充分敞开,2例为囊肿全部切除术。术后病理提示衬覆纤毛柱状上皮或复层上皮,周围淋巴组织增生。术后随访1.5~3年无复发。结论儿童鼻咽部第二鳃裂囊肿临床罕见,诊断主要依靠病变部位及术后病理结果,内镜下低温等离子切除病变组织是微创、安全、有效的治疗方式。

Factors influencing further vertebral height loss following percutaneous vertebroplasty in osteoporotic vertebral compression fractures:A 1-year follow-up study

BACKGROUND Osteoporotic vertebral compression fractures(OVCFs)contribute to back pain and functional limitations in older individuals,with percutaneous vertebroplasty(PVP)emerging as a minimally invasive treatment.However,further height loss post-PVP prompts investigation into contributing factors.AIM To investigate the factors associated with further height loss following PVP with cement augmentation in OVCF patients.METHODS A total of 200 OVCF patients who underwent successful PVP between January 2021 and December 2022 were included in this study.“Further height loss”during 1 year of follow-up in OVCF patients with bone edema was defined as a vertical height loss of≥4 mm.The study population was divided into two groups for analysis:The“No Further Height Loss group(n=179)”and the“Further Height Loss group(n=21).”RESULTS In comparing two distinct groups of patients,significant differences existed in bone mineral density(BMD),vertebral compression degree,prevalence of intravertebral cleft(IVF),type of bone cement used,and cement distribution patterns.Results from binary univariate regression analysis revealed that lower BMD,the presence of IVF,cleft distribution of bone cement,and higher vertebral compression degree were all significantly associated with further height loss.Notably,the use of mineralized collagen modified-poly(methyl methacrylate)bone cement was associated with a significant reduction in the risk of further height loss.In multivariate regression analysis,lower BMD and the presence of IVF remained significantly associated with further height loss.CONCLUSION Further height loss following PVP in OVCF patients is influenced by a complex interplay of factors,especially lower BMD and the presence of IVF.These findings underscore the importance of assessing and managing these factors when addressing height loss following PVP in OVCF patients.

Optimal timing for plastic surgical procedures for common congenital anomalies:A review

Apart from listening to the cry of a healthy newborn,it is the declaration by the attending paediatrician in the labour room that the child is normal which brings utmost joy to parents.The global incidence of children born with congenital anomalies has been reported to be 3%-6%with more than 90%of these occurring in low-and middle-income group countries.The exact percentages/total numbers of children requiring surgical treatment cannot be estimated for several reasons.These children are operated under several surgical disciplines,viz,paediatric-,plastic reconstructive,neuro-,cardiothoracic-,orthopaedic surgery etc.These conditions may be life-threatening,e.g.,trachea-oesophageal fistula,critical pulmonary stenosis,etc.and require immediate surgical intervention.Some,e.g.,hydrocephalus,may need intervention as soon as the patient is fit for surgery.Some,e.g.,patent ductus arteriosus need‘wait and watch’policy up to a certain age in the hope of spontaneous recovery.Another extremely important category is that of patients where the operative intervention is done based on their age.Almost all the congenital anomalies coming under care of a plastic surgeon are operated as elective surgery(many as multiple stages of correction)at appropriate ages.There are advantages and disadvantages of intervention at different ages.In this article,we present a review of optimal timings,along with reasoning,for surgery of many of the common congenital anomalies which are treated by plastic surgeons.Obstetricians,paediatricians and general practitioners/family physicians,who most often are the first ones to come across such children,must know to guide the parents appropriately and convincingly impress upon the them as to why their child should not be operated immediately and also the consequences of too soon or too late.

第一鳃裂囊肿及瘘管的手术治疗

第一鳃裂囊肿及瘘管临床较少见,手术较复杂,手术后易出现面瘫。我们采用显微镜下切除囊肿或瘘管上皮层的方法治疗第一鳃裂囊肿及瘘管,方法简单,效果满意。1.1临床资料。从2002年1月～2017年6月收治第一鳃裂囊肿及瘘管49例,男29例,女20例,年龄3～65岁,均为单侧发病,左侧28例,右侧21例,其中囊肿8例,瘘管41例,合并先天性外耳道狭窄12例。

Accurate diagnosis of prenatal cleft lip/palate by understanding the embryology

Cleft lip with or without cleft palate(CP) is one of the most common congenital malformations. Ultrasonographers involved in the routine 20-wk ultrasound screening could encounter these malformations. The face and palate develop in a very characteristic way. For ultrasonographers involved in screening these patients it is crucial to have a thorough understanding of the embryology of the face. This could help them to make a more accurate diagnosis and save time during the ultrasound. Subsequently, the current postnatal classification will be discussed to facilitate the communication with the CP teams.

外、中耳畸形与鳃裂囊肿

鳃源性耳畸形包括各类外，中耳畸形和鳃裂囊肿畸形，后者约占鳃源性畸形的1%。鳃裂囊肿与源于第2鳃弓神经之面神经解剖关系密切，术后避免误伤已为临床工程师所重视。文献中则罕有报导鳃裂囊肿并有外，中耳畸形者（如外耳道骨性闭锁或外耳道狭窄畸形），

单侧唇裂术后继发鼻孔过小的整复术

目的探讨矫正唇裂术后继发鼻孔过小畸形的更有效方法。方法将患侧上唇较之对侧不对称的“多余”组织形成局部皮瓣,用于扩大鼻孔,同时调整鼻翼位置。结果8例患者用此种方法修复术后,在两侧鼻翼、鼻孔、鼻槛等方面基本对称,取得满意效果。结论患侧上唇皮瓣加鼻翼复位是一种有效矫正唇裂术后鼻孔过小畸形的方法。

Yetter-Drinfeld范畴上相关Hopf模结构定理的改进

设L是域k上的Hopf代数,其对极为sL;A是Hopf代数,其对极为sA,令B是右A-余模代数.给出了改进后的LLYD中(A,B)-Hopf模的基本结构定理,它是一般Hopf模基本结构定理的推广.

19例Rathke囊肿的诊断和显微手术治疗

目的提高Rathke囊肿的术前诊断率和探讨最佳手术方法。方法回顾分析19例经术后病理证实为Rathke囊肿的病例。主要临床表现包括头痛(63.2%),视觉缺陷(53.6%)及下丘脑-垂体功能紊乱(42.1%)。术前CT及MRI检查发现均为鞍区囊性肿物。13例采用经鼻-蝶窦入路显微外科手术,6例采用经右额底开颅手术。结果术前正确诊断垂体Rathke囊肿的9例,术后随访3个月,病人的头痛症状全部缓解,下丘脑-垂体功能紊乱62.5%得到改善,视觉缺陷80%得到改善。19例病人术后10个月均无复发。结论Rathke囊肿术前CT与MRI检查均有一定特异性,结合CT与MRI检查能提高Rathke囊肿术前诊断率。经鼻-蝶窦入路显微手术治疗是目前治疗Rathke囊肿的最佳方法。

Hopf交叉余积

设H是Hopf代数 ,C是右H模余代数且E =C/C·H+.采用一种新方法证明了下述三者是等价的 :C/E是Hcleft余扩张 ;C同构于Hopf交叉余积E×αH且α卷积可逆 ;C/E是HGalois余扩张且具有余正规基性质 .