Dapagliflozin regulates myocardial SK2 protein expression in diabetic rats / 中国药理学通报

Aim To investigate the effect of dapagliflozin on the small conductance calcium-activated potassium channel 2 (SK2 channel) protein in the myocardium of diabetic rats and its possible mechanism of action. Methods In vivo: type 2 diabetes model was established by high-glucose and high-fat diet combined with intraperitoneal injection of low-dose streptozotocin (35 mg

An injectable hydrogel/staple fiber composite for sustained release of CA4P and doxorubicin for combined chemotherapy of xenografted breast tumor in mice / 南方医科大学学报

OBJECTIVE@#To prepare an injectable hydrogel/staple fiber composite loaded with combretastain A-4 disodium phosphate (CA4P) and doxorubicin (DOX) and evaluate its antitumor efficacy via intratumoral injection.@*METHODS@#DOX-loaded PELA staple fibers (FDOX) were prepared using electro-spinning and cryo-cutting, and the drug distribution on the surface of the fibers was observed using a fluorescence microscope, and the encapsulation efficiency and loading capacity of FDOX were determined with a fluorospectro photometer. The fibers were then dispersed in CA4P-loaded PLGA-PEG-PLGA tri-block polymer solution at room temperature to obtain the hydrogel/staple fiber composite (GCA4P/FDOX). The thermo-sensitivity of this composite was determined by a test tube inverting method. An ultraviolet spectrophotometer and a fluorospectrophotometer were used to detect the release profile of CA4P and DOX, respectively. We observed in vivo gel formation of the composite after subcutaneous injection in mice. The in vitro cytotoxicity of GCA4P/FDOX composite in MCF-7 and 4T1 cells was assessed using cell Counting Kit-8 (CCK-8) reagent. In a mouse model bearing breast tumor 4T1 cell xenograft, we evaluated the antitumor efficacy of the composite by monitoring tumor growth within 30 days after intratumoral injection of the composite. HE staining, immunohistochemistry for Ki67 and immunofluorescence (TUNEL) assay were used for pathological examination of the tumor tissues 21 days after the treatments.@*RESULTS@#The average length of FDOX was 4.0±1.3 μm, and its drug loading capacity was (2.69±0.35)% with an encapsulation efficiency of (89.70±0.12)%. DOX was well distributed on the surface of the fibers. When the temperature increased to 37 ℃, the composite rapidly solidified to form a gel in vitro. Drug release behavior test showed that CA4P was completely released from the composite in 5 days and 87% of DOX was released in 30 days. After subcutaneous injection, the composite solidified rapidly without degradation at 24 h after injection. After incubation with GCA4P/FDOX for 72 h, only 30.6% of MCF-7 cells and 28.9% of 4T1 cells were viable. In the tumor-bearing mice, the tumor volume was 771.9±76.9 mm3 in GCA4P/FDOX treatment group at 30 days. Pathological examination revealed obvious necrosis of the tumor tissues and tumor cell apoptosis induced by intratumoral injection of G4A4P/FDOX.@*CONCLUSION@#As an efficient dual drug delivery system, this hydrogel/staple fiber composite provides a new strategy for local combined chemotherapy of solid tumors.

Pay-for-performance challenges in family physician program

@#Objective: This study was conducted to investigate the challenges faced in the implementation of the pay-for-performance system in Iran’s family physician program. Study design: Qualitative. Place and duration of study: The study was conducted with 32 key informants at the family physician program at the Tabriz University of Medical Sciences between May 2018 and June 2018. Method: This is a qualitative study. A purposeful sampling method was used with only one inclusion criterion for participants: five years of experience in the family physician program. The researchers conducted 17 individual and group non-structured interviews and examined participants’ perspectives on the challenges faced in the implementation of the pay-for-performance system in the family physician program. Content analysis was conducted on the obtained data. Results: This study identified 7 themes, 14 sub-themes, and 46 items related to the challenges in the implementation of pay-for-performance systems in Iran’s family physician program. The main themes are: workload, training, program cultivation, payment, assessment and monitoring, information management, and level of authority. Other sub-challenges were also identified. Conclusion: The study results demonstrate some notable challenges faced in the implementation of the pay-for-performance system. This information can be helpful to managers and policymakers.

Prospect of preventive, predictive, personalized and participatory (4P) medicine in China / 公共卫生与预防医学

Objective To explore the progress and prospect of preventive, predictive, personalized and participatory (4P) medicine in China in order to promote the “4P” medicine and provide reference for the government and medical institutions to strengthen health management. Methods An in-depth analysis and review of the “4P” medical service model was conducted through literature review. The prospect of the future development of the “4P” medicine was discussed. Results In recent years, with the advancement of human health concepts and the completion of the genome project, the human healthcare model has been gradually shifting to the “4P” medical service model, namely preventive-predictive-personalized-participatory integrated medicine. It can be seen that modern medical model has been in the process of continuous transformation, which is more human-oriented and emphasizes people’s initiative. Conclusions With the widespread and understanding of the “4P” medicine among healthcare workers, the value of the “4P” medicine in public health and clinical practice has been continuously proven.

Prevention of Nurse-patient Disputes under the "4P" Medical Model / 中国医学伦理学

At present, the medical mode has changed from bio-psycho-social medical model to "4 P" medical mode. Therefore, it is necessary to fully consider the individual needs of patients, treat patients equally, adheres to the principle of faith and compliance, and adhere to the humanistic nursing concept. To prevent nurse-patient disputes, we should start from three aspects. Firstly, we should reform the current model of nurse education and training, reform the content of education and attach importance to moral sentiment education. Secondly, we should strengthen the cooperation between doctors and nurses, improve the level of health education, and build a harmonious nursing environment and a social atmosphere of respecting medical staff. Finally, we call for strengthening medical legislation and protecting the legitimate rights and interests of nurses with legal weapons.

Effect of Soothing Gan (Liver) and Invigorating Pi (Spleen) Recipes on TLR4-p38 MAPK Pathway in Kupffer Cells of Non-alcoholic Steatohepatitis Rats / 中国结合医学杂志

OBJECTIVE@#To investigate the mechanism of inflflammatory-mediated toll-like receptor 4 (TLR4)-p38 mitogen-activated protein kinase (p38 MAPK) pathway in Kupffer cells (KCs) of non-alcoholic steatohepatitis (NASH) rats and the intervention effect of soothing Gan (Liver) and invigorating Pi (Spleen) recipes on this pathway.@*METHODS@#After 1 week of acclimatization, 120 Sprague-Dawley male rats were randomly divided into 8 groups using a random number table (n=15 per group): normal group, model group, low-dose Chaihu Shugan Powder (, CHSG) group (3.2 g/kg), high-dose CHSG group (9.6 g/kg), low-dose Shenling Baizhu Powder (, SLBZ) group (10 g/kg), high-dose SLBZ (30 g/kg) group, and low- and highdose integrated recipe (L-IR, H-IR) groups. All rats in the model and treatment groups were fed with a high-fat diet (HFD). The treatments were administrated by gastrogavage once daily and lasted for 26 weeks. The liver tissues were detected with hematoxylin-eosin (HE) and oil red O staining. Levels of liver lipids, serum lipids and transaminases were measured. KCs were isolated from the livers of rats to evaluate the mRNA expressions of TLR4 and p38 MAPK by real-time flfluorescence quantitative polymerase chain reaction, and proteins expressions of TLR4, p-p38 MAPK and p38 MAPK by Western blot. Levels of inflammatory cytokines including tumor necrosis factor α (TNF-α), interleukin (IL)-1 and IL-6 in KCs were measured by enzyme-linked immunosorbent assay.@*RESULTS@#After 26 weeks of HFD feeding, HE and oil red O staining showed that the NASH model rats successfully reproduced typical pathogenesis and histopathological features. Compared with the normal group, the model group exhibited significant increases in body weight, liver weight, liver index, serum levels of total cholesterol (TC), triglyceride (TG), low-density lipoprotein cholesterol, and aspartate aminotransferase as well as TC and TG levels in liver tissues, and significant decrease in serum level of high-density lipoprotein cholesterol (Plt;0.05 or Plt;0.01), while those indices were significantly ameliorated in the H-IR group (Plt;0.05 or Plt;0.01). Higher levels of TNF-α, IL-1 and IL-6 in KCs were observed in the model group compared with the normal group (Plt;0.01). Significant decreases in TNF-α, IL-1 and IL-6 were observed in the H-SLBZ, H-IR and L-IR groups compared with the model group (Plt;0.05 or Plt;0.01). The mRNA expressions of TLR4 and p38 MAPK and protein expressions of TLR4, p38 MAPK and p-p38 MAPK in KCs in the model group were significantly higher than the normal group (Plt;0.01), while those expression levels in the L-IR and H-IR groups were significantly lower than the model group (Plt;0.05 or Plt;0.01).@*CONCLUSION@#Inflflammation in KCs might play an important role in the pathogenesis of NASH in rats. The data demonstrated the importance of TLR4-p38MAPK signaling pathway in KCs for the anti-inflflammatory effect of soothing Gan and invigorating Pi recipes.

Phenotypic and genetic analysis of a pedigree with 4p16 microduplication and 8p23 microdeletion / 中华医学遗传学杂志

Objective@#To explore the nature and origin of chromosomal copy number variants (CNVs) in a pedigree affected with mental retardation.@*Methods@#Genomic CNVs of the proband were analyzed by next generation sequencing (NGS). Chromosomal karyotypes of the proband and his relatives were analyzed with high-resolution karyotyping and fluorescence in situ hybridization (FISH).@*Results@#Clinical phenotypes of the proband and other patients from the pedigree included mental retardation and mild dysmorphism. The results of NGS revealed that the proband carried a 16.24 Mb microduplication at 4p16.3-15.32 and a 2.2 Mb microdeletion at 8p23.3-23.2. Other patients of the pedigree harbored the same variants, while those without the phenotypes did not harbor the variants. The results of high-resolution karyotyping and FISH revealed that the mother of the proband carried a reciprocal translocation between 4p and 8p, and her karyotype was 46, XX, t(4; 8)(p16; p23). No karyotypic abnormality was detected in his father.@*Conclusion@#The abnormal phenotypes of this pedigree may be attributed to 4p microduplication in conjunct with 8p microdeletion derived from a maternal balanced translocation between 4p and 8p.

Effect of FGF21 on TLR4/p38MAPK Signaling Pathway in Nonalcoholic Fatty Liver Diseases of Rats / 医学研究杂志

Objective To explore the effect of FGF21 on MSG-induced nonalcoholic fatty liver diseases of inflammation and TLR4/p38MAPK signal pathway in rats.Methods Newborn SD rats were randomly divided into control group,MSG group and FGF21 group(n =10).Rats of MSG group and FGF21 group were adiministered with solution of MSG 4g/(kg · d) at 2nd,4th,6th,8th and 10th postnataldays.After being fed for thirteen weeks,rats of FGF21 group was intraperitoneal injected with FGF21 1 mg/(kg · d) for a continuous 32 days.Liver pathology of the rats was analyzed by HE staining.The liver weight,aminotrasferases were observed.The expression of IL-6,TNF-α,TLR4,p38MAPK in liver tissue were determined by fluorescence quantitative PCR and Western blot.Results Compared with the control group,liver tissues of the MSG group changed to bullous steatosis and had inflammatory cell infiltration,the liver weighted,serum activities of ALT,AST,ALP were increased (P ＜ 0.01,P ＜ 0.01,P ＜ 0.01,P ＜ 0.01).The expression of IL-6,TNF-α,TLR4,p38MAPK mRNA and protein expression of TLR4,p38MPAK,p-p38MAPK in rats hepatocyte were increased than those in control group (P ＜ 0.01).After reatment with FGF21,the bullous steatosis and inflammatory cell,liver weighted,serum activities of ALT,AST,ALP were signficantly decreased (P ＜ 0.05,P ＜ 0.01,P ＜ 0.01,P ＜ 0.05),and the levels of IL-6,TNF-a,TLR4,p38 MAPK mRNA and protein expression of TLR4,p38-MPAK,p-p38MAPK were reduced than those of MSG group(P ＜0.01).Conculsion The FGF21 may regulate MSG-induced NAFLD of inflammation through TLR4/p38MAPK signaling pathway in rats.

Crecimiento intrauterino restringido como síntoma guía para el diagnóstico genético prenatal del síndrome de Wolf-Hirschhorn en gestación gemelar bicorial biamniótica / Restricted Intrauterine Growth as a Guiding Symptom for Prenatal Genetic Diagnosis of Wolf-Hirschhorn Syndrome in Bicorial Diamniotic Twin Gestation

El síndrome de Wolf Hirschhorn, también conocido como monosomía del brazo corto del cromosoma 4 (4p) o síndrome 4p-, es una rara enfermedad genética descrita por primera vez en el año 1961 por los doctores Cooper y Hirschhorn. El objetivo del trabajo es presentar un caso clínico sobre el síndrome de Wolf-Hirschhorn, que es un trastorno genético raro y aún bastante desconocido que cursa con múltiples anomalías morfológicas congénitas, así como con un retraso neurológico e intelectual de grado variable. La prevalencia de este síndrome es extremadamente baja, teniendo en cuenta que la cifra puede estar infraestimada, dada las pérdidas gestacionales precoces y la dificultad en el diagnóstico prenatal. Reportamos el caso de una paciente con gestación gemelar bicorial biamniótica tras un ciclo de FIV-ICSI, en el que al segundo gemelo se diagnosticó un Síndrome de Wolf-Hirschhorn, luego del estudio por una discordancia de pesos estimados y crecimiento intrauterino restringido de este segundo feto. El patrón clásico de presentación clínica se caracteriza por el desarrollo de alteraciones craneofaciales importantes, retraso en el crecimiento normal tanto prenatal como posnatal y deficiencia mental e intelectual de grado variable. El diagnóstico prenatal debe ser realizado por expertos. Puede sospecharse por un crecimiento intrauterino restringido, ya que se da en 80-90 por ciento de los fetos con esta patología. Una vez diagnosticado, se recomienda el estudio genético de los padres, dado que hasta 15 por ciento de los progenitores pueden padecer un reordenamiento cromosómico equilibrado en el brazo corto del cromosoma 4(AU)

Wolf Hirschhorn syndrome, also known as monosomy of the short arm of chromosome 4 (4p) or 4p-syndrome, is a rare genetic disorder first described in 1961 by doctors Cooper and Hirschhorn. The prevalence of this syndrome is extremely low, taking into account that the figure may be underestimated given the early gestational losses and the difficulty in prenatal diagnosis. The objective of the study is to present a clinical case of Wolf-Hirschhorn syndrome, presenting with multiple congenital morphological anomalies, as well as a neurological and intellectual retardation of variable degree. We report the case of a patient with a bicorial biamniotic twin gestation after a cycle of IVF-ICSI. The second twin was diagnosed with a Wolf-Hirschhorn syndrome, after performing the corresponding study due to a discordance of estimated weights and restricted intrauterine growth of this second fetus. The development of important craniofacial alterations, delay of normal prenatal and postnatal growth, and mental and intellectual deficiency of variable degree characterize the classic clinical presentation. Experts must make prenatal diagnosis. Wolf-Hirschhorn syndrome can be suspected by a restricted intrauterine growth, as it occurs in 80-90 percent of fetuses with this pathology. Once diagnosed, the genetic study of the parents is recommended, since up to 15 percent of the parents can suffer a balanced chromosomal rearrangement in the short arm of chromosome 4(AU)

Prenatal diagnosis of 4p deletion syndrome: A case series report

The 4p deletion syndrome, also known as Wolf-Hirschhorn syndrome, is a well-known genetic disorder caused by a partial deletion of the short arm of chromosome 4. The great variability in the extent of the 4p deletion and the possible contribution of additional genetic rearrangements leads to a wide spectrum of clinical manifestations. Herein, we present our experience with eight cases of 4p deletion syndrome, ascertained prenatally between 1998 and 2016 at our hospital.

Expression and clinical significance of AOC4P in hepatocellular carcinoma / 中国肿瘤临床

Objective:This study investigates the expression of long non-coding RNA termed amine oxidase, copper containing 4, pseudo-gene (AOC4P) in hepatocellular carcinoma (HCC) and its relationship with clinicopathological factors and patient prognosis. Methods:The expression of AOC4P in 106 HCC tissues and adjacent non-tumor tissues were detected using qRT-PCR. The relationship between AOC4P expression and clinicopathological factors, as well as patient prognosis, in HCC was analyzed. Results:The relative expression of AOC4P in the cancer tissues was 0.66±0.34, which was significantly lower than the relative expression in adjacent non-tumor tissues, i. e., 1.45±0.63 (P<0.05). Univariate analysis showed that low AOC4P expression was correlated with tumor size, lymph node metastasis, and TNM stage (P<0.05). The group with high AOC4P expression levels has longer survival time compared with the group with low AOC4P expression levels. Cox multivariate regression analysis showed that AOC4P expression, lymph node metastasis, and vascular in-vasion were all independent factors that affect prognosis of patients. Conclusion:AOC4P expression was reduced in HCC tissues, and AOC4P may play crucial roles in the occurrence and development of HCC. For patients with poor prognosis, low AOC4P expression is an independent risk factor for patients with HCC. Thus, AOC4P expression may be used as a molecular marker for HCC.

Association of TSHR gene intron 1 and 4p14 single-nucleotide polymorphisms and gene-gene interactions with Graves′disease / 中华内分泌代谢杂志

Objective To identify the association of thyroid stimulating hormone receptor ( TSHR ) gene intron 1 susceptible loci and 4p14 susceptible locus rs6832151 polymorphisms with Graves’ disease ( GD) in Han Chinese population in Bengbu, Anhui, China. The gene-gene interaction among TSHR intron 1 susceptible loci and 4p14 susceptible locus rs6832151 was also investigated. Methods The genotypes of the single-nucleotide polymorphisms ( SNPs) were analyzed by Taqman probe technique on Fluidigm EP1 platform in 611 patients with GD and 555 control subjects, and linkage analysis, correlation analysis, haplotype analysis, and epistasis analysis with them were performed. Results Six SNPs in two candidate genes(rs12101261, rs4903964,rs179247, rs2284722 and rs17111394 in TSHR, rs6832151 in 4p14) were associated with GD (all P<0. 05). The frequency distributions of haplotypes of SNPs in TSHR intron 1 ( AGTA, GGCG, AATA, and CC) were significantly different between GD and control groups(all P<0. 01). There existed the interactions between rs179247 and rs12101261 in TSHR(P=0. 001) and among rs179247(TSHR),rs4903964(TSHR) and rs6832151(4p14) (P=0. 001). Conclusions rs683215 in 14p14 and rs12101261, rs4903964, rs179247, rs2284722 and rs17111394 in TSHR intron 1 were susceptible loci of GD in the Chinese Han population from Bengbu. The haplotypes in TSHR intron 1 were associated with GD. There exists the interaction between the SNPs in TSHR and 4p14,which may change the risk of GD.

Uncommon Oral Cleft in Wolf-Hirschhorn Syndrome

Wolf-Hirschhorn syndrome (WHS) is a syndrome with craniofacial and systemic abnormalities, which is related to 4p deletion. A 3-month old girl with an undiagnosed syndrome was referred for evaluation of the cleft lip and palate. Hypotonia, short stature, cardiac malformation, hypertrophied clitoris, and atypical thumb of both hands was observed. Microcephaly, low-set ear, prominent glabella, downslanting palpebral fissures, a characteristic "Greek warrior helmet" appearance, micrognathia, ears with pits/tags and bilateral incomplete cleft lip apart from incomplete cleft palate were observed as craniofacial findings. With clinical diagnosis of WHS, blood was subjected to karyotyping, which showed a 4p15.2 deletion, consistent with the condition. Here is reported the case of this WHS patient with an uncommon oral cleft extending the phenotypic spectrum of the disorder. The child was referred to a multidisciplinary team to reparative surgery of the cleft lip and palate. The patient is on regular medical follow-up and will be further assisted by dentists, physical therapists, occupational therapists and psychologists. The genotype-phenotype correlation of the affected patient with previous WSH syndrome reports is described.

A síndrome de Wolf-Hirschhorn (WHS) é uma condição genética caracterizada por anomalias craniofaciais e sistêmicas, causada por deleção cromossômica na região 4p. Paciente de 3 meses de idade, gênero feminino, foi encaminhada para avaliação de fissura de lábio e fissura palatina, associada a uma síndrome não diagnosticada. A paciente apresentava-se com hipotonia, baixa estatura, malformação cardíaca, clitóris hipertrofiado e implantação atípica do polegar nas duas mãos. Microcefalia, baixa implantação da orelha, glabela proeminente, inclinação baixa das fissuras palpebrais, aparência característica de capacete de guerreiro grego, micrognatia, fossetas em orelhas, fissura labial bilateral incompleta e fissura palatina incompleta foram observadas como características craniofaciais. Com um diagnóstico clínico de WHS, foi realizado o cariótipo, que mostrou a deleção 4p15.2, consistente com a condição. Esse relato de caso apresenta um caso de WHS, com uma fissura oral incomum, ampliando o espectro fenotípico da doença. A paciente foi encaminhada a tratamento com equipe multidisciplinar para correção cirúrgica da fissura labial e palatina. Encontra-se em acompanhamento médico bem como odontológico, fisioterapêutico e em terapia ocupacional e psicológica. Uma correlação entre genótipo e fenótipo pode ser observada nesse relato da síndrome de WHS.

Association of the rs6832151 within chromosomal band 4p14 with Graves′disease / 中华内分泌代谢杂志

[Summary] The genotypes of rs6832151 in the 4p14 were genotyped by Taqman probe technique on FluidigmEPl platform in 617 patients with Graves′disease( GD) and 4 915 health control subjects. The result showed thatRs6832151 Gin4p14wasstronglyassociatedwithGD(OR=1.39,P0. 05). The result suggests that rs6832151 G in 4p14 is the susceptibility genes of Graves′ disease in Bengbu population, and is related to the high risk of GD.

Construction of recombinant adenovirus harboring fusion gene NT4p53(C22)Ant and its killing effect on HepG2 tumor cells / 西安交通大学学报(医学版)

ABSTRACT:Objective To construct a recombinant adenovirus vector harboring fusion gene NT4p53(C22)Ant and study its killing effect on HepG2 tumor cells.Methods Using molecular cloning technology,the rAVV-NT4p53(C22)Ant was produced by homologous recombination.Then we collected virus supernatant and measured its titer after it was amplified by PCR.The effect of this fusion gene on HepG2 tumor cells was evaluated by IHC, MTT assay,PI staining and flow cytometry.Results The recombinant adenovirus was successfully constructed. The p53 expression rate in rAAV-NT4p53(C22)Ant group was (44.88±2.45)%.MTT assay showed that rAAV-NT4p53(C22)Ant could strongly suppress the growth of HepG2 tumor cells.Flow cytometry showed that rAAV-NT4p53(C22)Ant could induce obvious apoptosis of HepG2 tumor cells.Conclusion The recombinant adenovirus vector encoding gene NT4p53(C22)Ant has been successfully constructed and expressed in this experiment,and it can inhibit proliferation and induce apoptosis of HepG2 tumor cells.

Performance-based Incentives to Improve Health Status of Mothers and Newborns: What Does the Evidence Show.

Performance-based incentives (PBIs) aim to counteract weak providers’ performance in health systems of many developing countries by providing rewards that are directly linked to better health outcomes for mothers and their newborns. Translating funding into better health requires many actions by a large number of people. The actions span from community to the national level. While different forms of PBIs are being implemented in a number of countries to improve health outcomes, there has not been a systematic review of the evidence of their impact on the health of mothers and newborns. This paper analyzes and synthesizes the available evidence from published studies on the impact of supply-side PBIs on the quantity and quality of health services for mothers and newborns. This paper reviews evidence from published and grey literature that spans PBI for public-sector facilities, PBI in social insurance reforms, and PBI in NGO contracting. Some initiatives focus on safe deliveries, and others reward a broader package of results that include deliveries. The Evidence Review Team that focused on supply-side incentives for the US Government Evidence Summit on Enhancing Provision and Use of Maternal Health Services through Financial Incentives, reviewed published research reports and papers and added studies from additional grey literature that were deemed relevant. After collecting and reviewing 17 documents, nine studies were included in this review, three of which used before-after designs; four included comparison or control groups; one applied econometric methods to a five-year time series; and one reported results from a large-scale impact evaluation with randomly-assigned intervention and control facilities. The available evidence suggests that incentives that reward providers for institutional deliveries result in an increase in the number of institutional deliveries. There is some evidence that the content of antenatal care can improve with PBI. We found no direct evidence on the impact of PBI on neonatal health services or on mortality of mothers and newborns, although intention of the study was not to document impact on mortality. A number of studies describe approaches to rewarding quality as well as increases in the quantities of services provided, although how quality is defined and monitored is not always clear. Because incentives exist in all health systems, considering how to align the incentives of the many health workers and their supervisors so that they focus efforts on achieving health goals for mothers and newborns is critical if the health system is to perform more effectively and efficiently. A wide range of PBI models is being developed and tested, and there is still much to learn about what works best. Future studies should include a larger focus on rewarding quality and measuring its impact. Finally, more qualitative research to better understand PBI implementation and how various incentive models function in different settings is needed to help practitioners refine and improve their programmes.

Wolf-Hirschhorn (4p-) Syndrome Presenting with Status Epilepticus / 대한간질학회지

Wolf-Hirschhorn syndrome is a well-recognized malformation syndrome with multiple congenital anomalies, resulting from partial deletion of the short arm of chromosome 4 (4p-). All affected individuals have intrauterine and postnatal growth retardation with marked feeding difficulties, developmental delay, and intellectual disability. Additionally, most of patients have seizures from early infancy. Although seizures are common with this syndrome, presenting with status epilepticus (SE) is rare. We report two cases of Wolf-Hirschhorn syndrome presenting with SE.

Wolf-Hirschhorn (4p-) Syndrome Presenting with Status Epilepticus

Wolf-Hirschhorn syndrome is a well-recognized malformation syndrome with multiple congenital anomalies, resulting from partial deletion of the short arm of chromosome 4 (4p-). All affected individuals have intrauterine and postnatal growth retardation with marked feeding difficulties, developmental delay, and intellectual disability. Additionally, most of patients have seizures from early infancy. Although seizures are common with this syndrome, presenting with status epilepticus (SE) is rare. We report two cases of Wolf-Hirschhorn syndrome presenting with SE.

Two Cases of Partial Trisomy 4p and Partial Trisomy 14q

We present clinical and cytogenetic data on 2 cases of partial trisomy 4p and partial trisomy 14q. Both patients had an extra der(14)t(4;14)(p15.31;q12) chromosome due to a 3:1 segregation from a balanced translocation carrier mother. Array analyses indicated that their chromosomal breakpoints were similar, but there was no relationship between the 2 families. Both patients showed prominent growth retardation and psychomotor developmental delay. Other phenotypic manifestations were generally mild and variable; for example, patient 1 had a short palpebral fissure and low-set ears whereas patient 2 had a round face, asymmetric eyes, small ears, a short neck, finger/toe abnormalities, and behavioral problems.

Wolf–Hirschhorn syndrome: A case demonstrated by a cytogenetic study.

We present a case with a 4p terminal deletion, evidenced in GTG-banded chromosome study. Phenotypic signs described in the classical Wolf–Hirschhorn syndrome were found on clinical examination of our patient.