Thanatophoric skeletal dysplasia: a rare case report

A diverse range of bone growth disorders known as skeletal dysplasias are brought on by new mutations in the FGFR3 gene, which cause abnormalities in the size and shape of the skeleton. We present a case of thanatophoric dysplasia diagnosed antenatally on ultrasound. G2P1L0, a 30-year-old woman, came to our radiodiagnosis department for her first pregnant ultrasound examination. The results showed a single live intrauterine baby with a head that was considerably bigger than the rest of the body, a hypoplastic nasal bone, an exceedingly thin fetal thorax, thicker soft tissue in the hands and feet, as well as bent long bones that resemble telephone receiver handles, along with bilateral club feet and trident hands.

From diagnosis to treatment: a holistic approach to intraepithelial cervical disease

Cervical cancer remains a significant cause of mortality among women worldwide. Screening methods play a crucial role in identifying individuals with cervical pre-cancerous lesions, allowing for timely intervention to prevent progression to invasive disease. Treatment modalities for cervical intraepithelial neoplasia (CIN) are effective, straightforward, and safe. The choice between ablative techniques (such as cryotherapy or thermal ablation) and excisional techniques (like large loop excision or cold knife conization) depends on lesion characteristics and transformation zone type. Ablative techniques are particularly suitable for low-resource settings due to their simplicity, low complication rates, and cost-effectiveness. In areas where access to colposcopy and histopathology services is limited, strategies such as visual inspection with acetic acid (VIA) followed by immediate ablative treatment for VIA-positive individuals are recommended by the World Health Organization. This approach not only prevents the progression of high-grade CIN but also ensures high compliance among screen-positive individuals. Overall, effective screening and treatment strategies are essential in reducing the burden of cervical preinvasive lesions and preventing the development of cervical cancer.

Manejo Ortodóncico Quirúrgico de la Displasia Cleidocraneal en Pacientes en Crecimiento

El objetivo de este estudio fue describir las alternativas terapéuticas ortodóncico-quirúrgicas más utilizadas en la actualidad para el manejo de la displasia cleidocraneal en pacientes en crecimiento. Se realizó una búsqueda de literatura durante mayo de 2023 en las bases de datos Pubmed, Epitemonikos, Dentistry & Oral Sciences Source y LILACS sobre reporte de casos que presentaran estrategias de tratamiento ortodóncico-quirúrgico en pacientes menores de 18 años con displasia cleidocraneal. Seis artículos cumplieron con los criterios de inclusión. De ellos se obtuvieron siete reportes de casos. Las edades de los pacientes fluctúan entre los 10 y 16 años. Las estrategias de tratamiento consisten en al menos dos etapas de tratamiento ortodóncico quirúrgicas que involucran la extracción de dientes primarios y supernumerarios y la exposición quirúrgica de dientes permanentes retenidos para permitir su erupción y/o su tracción ortodóncica. Algunos casos son finalizados con cirugía Ortognática (Osteotomía Le Fort I de avance maxilar). La extracción de dientes primarios y supernumerarios, fenestración y tracción ortodóncica de los dientes permanentes retenidos y la cirugía ortognática al finalizar el crecimiento (cuando sea necesario) se propone actualmente como la mejor alternativa terapéutica para el tratamiento de pacientes con displasia cleidocraneal.

The objective of this study was to describe the orthodontic-surgical therapeutic alternatives most used nowadays, for the management of CCD in growing patients. A literature search for case reports was carried out through May, 2023 in PubMed, Epitemonikos, Dentistry & Oral Sciences Source and LILACS databases. We included case reports that presented complete orthodontic-surgical treatment strategies in patients with DCC under 18 years of age. Six articles met the inclusion criteria and seven case reports were identified. The age of cases ranged from 10 to 16 years. Treatment strategies consisted of at least two stages of surgical orthodontic treatment involving extraction of primary and supernumerary teeth and surgical exposure of impacted permanent teeth to allow spontaneous eruption or orthodontic traction. Some cases were completed with orthognathic surgery. Extraction of primary and supernumerary teeth, fenestration and orthodontic traction of retained permanent teeth and orthognathic surgery at the end of growth (when necessary) is currently proposed as the best therapeutic alternative for the treatment of patients with DCC.

CT findings of a patient with Hay-Wells syndrome: a case report

Hay-Wells syndrome is a rare genetic disorder caused by a heterozygous mutation in the TP63 gene that affects the development of ectodermal derivatives. While the exact prevalence of hearing loss in this condition is not well established, it has been suggested that approximately 50% of patients may present with varying degrees of hearing impairment. Here we present a case of a 6-year-old female patient diagnosed with Hay-Wells syndrome since birth who has been developing hearing loss predominantly on the right side for the past year. Considering the embryological origin of the external ear, an associated abnormality with the syndrome cannot be disregarded. Early recognition and diagnosis of this syndrome are crucial for appropriate management and potential interventions for hearing loss. Utilizing imaging methods can aid in demonstrating the characteristic alterations of the syndrome, which is important given its low incidence in the general population. This case report emphasizes the significance of prompt diagnosis, which is critical for implementing genetic counseling and effective disease prevention measures. We should be well-versed in the characteristic imaging findings that aid in early identification and genetic diagnosis of the disorder.

Bases neurobiológicas de la epilepsia neonatal y sus comorbilidades / Neurobiological basis of neonatal epilepsy and its co morbilities

Resumen La aparición de convulsiones es frecuente durante el periodo neonatal debido a las características de inma durez funcional del cerebro es este periodo. La aparición de estas convulsiones puede llevar a un diagnóstico de epilepsia neonatal, que suele estar asociado a alteracio nes estructurales del cerebro durante el neurodesarrollo. Aproximadamente el 50% de las personas con epilepsia activa padecen al menos un trastorno médico comórbi do, y esto hace que cambie la evolución de la epilepsia. La presencia de trastornos neurológicos que preceden a la aparición de la epilepsia indica que alteraciones es tructurales y/o funcionales del cerebro subyacentes pue den ser causa de la predisposición a padecer epilepsia y de los procesos comórbidos de manera independiente. En esta revisión describimos los procesos cerebrales estructurales y funcionales que subyacen a la aparición de epilepsia neonatal y sus comorbilidades.

Abstract The occurrence of seizures is frequent during the neonatal period due to the functional immaturity of the brain.The presence of these seizures may lead to a diagnosis of neonatal epilepsy, which is usually as sociated with structural alterations of the brain during neurodevelopment. Approximately 50% of people with active epilepsy have at least one comorbid medical di sorder, and the existence of a comorbid process changes the course of the epilepsy. The presence of neurologic disorders preceding the onset of epilepsy indicates that underlying neurobiological alterations may indepen dently cause the predisposition to epilepsy and comor bid processes. In this review we describe the structural and functional brain processes underlying the onset of neonatal epilepsy and its comorbidities.

Dental implants in patients with ectodermal dysplasia: a computer guided quad zygomatic case report and literature review / Implantes dentales en pacientes con displasia ectodérmica: Reporte de caso y revisión de literatura

Abstract Ectodermal dysplasia (ED) is a genetic disorder affecting anatomical structures with an ectodermal origin. The consequent alveolar bone anomalies and lack of teeth require a multidisciplinary approach to rehabilitate patients function and esthetics. To avoid bone grafting procedures the application of zygomatic implants was suggested for the upper jaw treatment. The advancements in three-dimensional (3D) radiology and the introduction of digital implant planning software could enhance the approach to zygomatic implants in ED patients. The present case report describes the quad zygomatic implant treatment of the edentulous maxilla of an ED patient by means of computer guided implant surgery. The patient reported previous failure of bone grafting procedures in the upper jaw. The implants were immediately loaded with a screw-retained complete-arch resin prosthesis. The patient was followed up for 1 year with no biological nor mechanical complications reported, but a slight bone resorption in the anterior zone was observed. Zygomatic implants could be a potential alternative treatment to bone grafting in upper jaw and the digital implant planning could enhance the surgical procedure.

Resumen La displasia ectodérmica (DE) es una enfermedad genética que afecta las estructuras anatómicas de origen ectodérmico. Las consiguientes anomalías del hueso alveolar y la anodoncia requieren un planteamiento multidisciplinario para rehabilitar la función y la estética de los pacientes. Para evitar procedimientos de injerto óseo se sugirió la aplicación de implantes cigomáticos para el tratamiento del maxilar superior. Los avances en radiología tridimensional (3D) y la introducción de software de planificación de implantes digitales podrían mejorar el enfoque de los implantes cigomáticos en los pacientes con displasia ectodérmica. El presente reporte de caso describe el tratamiento con implantes cigomáticos en el maxilar superior edéntulo de un paciente con displasia ectodérmica mediante cirugía de implantes guiada por ordenador. El paciente refirió fracaso de procedimientos de injerto óseo en el maxilar superior. Los implantes se cargaron inmediatamente con una prótesis de resina de arcada completa. El paciente ha sido incluido en un programa de control postoperatorio por 1 año, sin reportarse complicaciones ni biológicas ni mecánicas, siendo el único problema encontrado una ligera reabsorción ósea en la zona anterior. Los implantes cigomáticos podrían ser un posible tratamiento alternativo al injerto óseo en el maxilar superior y la planificación de implantes digitales podría mejorar el procedimiento quirúrgico.

Asociación entre metaplasia, displasia y cáncer de vesícula biliar en una EPS de Bogotá, Colombia / Association between metaplasia, dysplasia and gallbladder cancer in an EPS in Bogotá, Colombia

Introducción. El cáncer de vesícula biliar es el más común en el tracto biliopancreático y una importante causa de mortalidad. La metaplasia y la displasia han sido mencionados como probables precursores relacionados con la secuencia metaplasia-displasia-cáncer. El objetivo de este estudio fue establecer las posibles asociaciones entre estas alteraciones histopatológicas y su relación con la edad y el sexo de los pacientes. Métodos. Estudio observacional retrospectivo descriptivo, con un componente analítico de corte transversal. Se incluyeron los informes de patología de pacientes llevados a colecistectomía laparoscópica electiva y ambulatoria, entre enero de 2015 y diciembre de 2020, con colecistitis crónica, colelitiasis o pólipos vesiculares, mayores de 18 años. Se describieron las características demográficas por sexo y edad utilizando medias, desviaciones estándar y porcentajes. Se emplearon la prueba de chi cuadrado y la prueba exacta de Fisher para evaluar la asociación entre las variables cualitativas. Resultados. Se incluyeron 4871 informes de patología. En esta cohorte se encontró asociación estadísticamente significativa entre metaplasia, displasia y cáncer de vesícula (p<0,05), al igual que con el sexo y la edad de los pacientes. Conclusiones. Los resultados sugieren una asociación entre metaplasia, displasia y cáncer de vesícula biliar en la población estudiada. Se recomienda la realización de investigaciones complementarias para definir la posible causalidad entre metaplasia, displasia y cáncer de vesícula biliar en una población más heterogénea.

Introduction. Gallbladder cancer is the most common cancer in the biliopancreatic tract and an important cause of mortality. Metaplasia and dysplasia have been mentioned as probable precursors related to the metaplasia-dysplasia-cancer sequence. The objective of this study was to establish the possible associations between these histopathological alterations and their relationship with the age and sex of the patients. Methods. Descriptive retrospective observational study, with a cross-sectional analytical component. Pathology reports of patients undergoing elective and outpatient laparoscopic cholecystectomy were included between January 2015 and December 2020, with chronic cholecystitis, cholelithiasis, or gallbladder polyps, over 18 years of age. Demographic characteristics by sex and age was performed using means, standard deviations, and percentages. The chi2 test and Fisher's exact test were used to evaluate the association between the qualitative variables. Results. 4871 pathology reports were included. In this cohort, a statistically significant association was found between metaplasia, dysplasia, and gallbladder cancer (p<0.05), as well as with the sex and age of the patients. Conclusions. The results suggest an association between metaplasia, dysplasia and gallbladder cancer in the study population. Additional research is recommended to define the possible causality between metaplasia, dysplasia, and gallbladder cancer in a more heterogeneous population.

Displasia dentinaria tipo I: Manejo clínico y estudio histológico a propósito de dos casos / Dentin dysplasia type I: clinical management and histological study based on two cases

La displasia dentinaria tipo I (DD-I) corresponde a una alteración dentinaria de heterogeneidad genética y penetrancia completa, en donde se presenta un defecto en el desarrollo de las raíces de los dientes tanto temporales como definitivos. Clínicamente se observan dientes con extrema movilidad junto con antecedentes de exfoliación prematura o espontánea. Los defectos estructurales de los tejidos dentarios, tales como DD-I; implican un desafío ya que son pocos los casos documentados en la literatura que hablan de esta condición. Además implican un tratamiento multidisciplinario y altamente invasivo. El objetivo de este artículo es presentar dos casos de DD-I, enfatizando en su tratamiento y características histopatológicas.

Dentin Dysplasia Type I (DD-I) consists of a pathological dentinary alteration with genetic heterogeneity that results in a defectuous development of dental roots both in primary and secondary dentition. Clinically we can appreciate teeth with extreme pathological mobility and premature or spontaneous exfoliation. Alterations within normal dental structure, such as DD-I imply a challenge for the common practitioner, because of the scarce number of case reports with in the scientific literature regarding this condition and also, because of the need for a highly invasive and multidisciplinary approach they require. The aim of this article is to present two DD-I cases, emphasizing on their treatment and histopathological features.

Typical presentation of mucopolysaccharidosis type IVA: a case report

Mucopolysaccharidosis (MPS) IVA, or Morquio syndrome, is a rare lysosomal storage disorder characterized by skeletal dysplasia. It is caused due to deficiency in the enzyme N-acetylgalactosamine-6-sulfatase (GALNS), which results from an autosomal recessive mutation in the GALNS gene. The frequency of this mutation is equivalent in men and women. Here in, we present the case of Morquio syndrome, in a male child of twin gestation with poor antenatal and natal history. The peculiar presentations are those of skeletal deformities, coarse facial features, recurrent respiratory tract infections, and a history of NICU admission for meconium aspiration syndrome. This case is unique because, despite a negative family and prenatal history, and one of the twins being unaffected which adds to its appeal. Later, on biochemical and radiological investigations, he was diagnosed with mucopolysaccharidoses IVA and ultimately managed him supportively.

Fisiopatología de la displasia broncopulmonar / Pathophysiology of bronchopulmonary dysplasia

La fisiopatología de la displasia broncopulmonar (DBP) se centra en la interrupción del desarrollo pulmonar durante etapas críticas en las que la histología, anatomía y función celular están en proceso de adaptación para facilitar el intercambio gaseoso eficiente. Este desarrollo, que avanza hacia la etapa alveolar después de la etapa sacular, ocurre simultáneamente con una respuesta inflamatoria y de reparación al daño. Como resultado, se afectan la vía aérea (principalmente a través de la limitación obstructiva), los alvéolos (resultando en hipoxemia) y la vasculatura pulmonar (provocando hipertensión pulmonar).

The pathophysiology of bronchopulmonary dysplasia (BPD) is centered on the disruption of lung development during critical stages where histology, anatomy, and cellular function are adapting to facilitate efficient gas exchange. This development, advancing towards the alveolar stage after the saccular stage, occurs concurrently with an inflammatory and damage repair response. As a result, it affects the airway (primarily through obstructive limitation), alveoli (resulting in hypoxemia), and pulmonary vasculature (leading to pulmonary hypertension).

Sarcomatous transformation of florid cemento-osseous dysplasia: a case report

Florid cemento-osseous dysplasia (COD) represents a rare group of benign fibro-osseous disorders, while osteogenic sarcoma (OS) on the other hand, is a malignant tumour of ominous prognosis. The malignant transformation of a benign fibro-osseous lesion of the jaw is quite uncommon and has few reported cases. The clinico-radiological findings and histopathological analysis of a lesion present in all four quadrants of the jaw of a patient who reported at the outpatient department of a regional dental college is presented here. The lesion underwent sarcomatous transformation over two months and the findings were confirmed by histopathological evaluation. Although florid cemento-osseous dysplasia is a benign lesion of the jaw with a very low propensity for malignant transformation, it should be closely monitored in patients with tumour predisposition syndromes. Further research and molecular studies are required for better understanding of inadvertent changes.

Espondiloencondrodisplasia con desregulación inmune relacionada a ACP5. Reporte de cuatro casos / Spondyloenchondrodysplasia with immune dysregulation related to ACP5. A report of 4 cases

La espondiloencondrodisplasia con desregulación inmune relacionada a ACP5 (SPENCDI #607944, por la sigla de spondyloenchondrodysplasia with immune dysregulation y el número que le corresponde en OMIM, Online Mendelian Inheritance in Man) es una displasia inmuno-ósea poco frecuente con manifestaciones heterogéneas y gravedad variable. Presenta lesiones espondilometafisarias, disfunción inmune y compromiso neurológico. Se reportan aspectos clínicos, radiológicos y genéticos de cuatro niñas con SPENCDI en un hospital pediátrico. Todas presentaron manifestaciones esqueléticas y tres de ellas enfermedad inmunológica grave. Se encontró en tres pacientes la variante probablemente patogénica c.791T>A; p.Met264Lys en homocigosis, y en una paciente las variantes c.791T>A; p.Met264Lys y c.632T>C; p.lle211Thr (variante de significado incierto con predicción patogénica según algoritmos bioinformáticos) en heterocigosis compuesta en ACP5. La presencia de la variante repetida c.791T>A sugiere la posibilidad de un ancestro en común en nuestra población. El reconocimiento y diagnóstico de esta entidad es importante para lograr un oportuno abordaje, que deberá ser multidisciplinario, orientado hacia la prevención de posibles complicaciones.

Spondyloenchondrodysplasia with immune dysregulation related to ACP5 (SPENCDI, OMIM number 607944) is an uncommon immune-skeletal dysplasia with heterogeneous manifestations and variable severity. It is characterized by spondylar and metaphyseal lesions, immune dysfunction, and neurological involvement. Here we report the clinical, radiological and genetic aspects of 4 girls with SPENCDI treated at a children's hospital. They all had skeletal manifestations and 3 developed severe immune disease. In 3 patients, the likely pathogenic variant c.791T>A; p.Met264Lys (homozygous mutation) was observed, while 1 patient had variants c.791T>A; p.Met264Lys and c.632T>C; p.lle211Thr (variant of uncertain significance with pathogenic prediction based on bioinformatics algorithms) caused by a compound heterozygous mutation in ACP5. The repeated presence of variant c.791T>A suggests the possibility of a common ancestor in our population. The recognition and diagnosis of this disorder is important to achieve a timely approach, which should be multidisciplinary and aimed at preventing possible complications.

Incontinencia pigmenti. progresión clínica y diagnóstico de un caso / Incontinentia pigmenti. clinical progression and diagnosis of a case

Resumen La incontinencia pigmenti(IP) es una genodermatosis infrecuente ysistémica del neuroectodermo que involucra la piel, el sistema nervioso central, los ojos y los dientes, entre otros. Los signos clínicos dermatológicos constituyen el principal criterio diagnóstico, debido a que suelen ser los primeros en manifestarse. Se describen cuatro estadios característicos de la enfermedad según las lesiones cutáneas predominantes. No obstante, su pronóstico depende de los signos y síntomas extracutáneos. El diagnóstico se centra en criterios clínicos, histopatológicos y/o genéticos. Visto que no existe una terapéutica específica, la atención médica de esta enfermedad es multidisciplinaria y sintomática, y debe acompañarse del asesoramiento genético a los afectados y sus familiares. Presentamos el caso de una niña, nacida a término completo, quien presentó un cuadro clínico compatible con incontinencia pigmenti, del cual detallamos su progresión clínica, diagnóstico y seguimiento.

Abstract Incontinentiapigmenti is a rare and multisystemic,neuroectodermal genodermatosis that involves the skin, central nervous system, eyes and teeth, among others. Dermatological clinical signs are the main diagnostic criteria because they are usually the first to manifest. Four characteristic stages of the disease are described according to the predominant skin lesions. Nonetheless, prognosis depends on extracutaneous clinical signs and symptoms. Diagnosis is based on clinical, histopathological and/or genetic criteria. Considering there is no specific treatment available, the management of this disease is multidisciplinary and symptomatic, and must be accompanied by genetic counseling for those affected and their families. We present in a full-tern newborn femalethat presented with a clinical picture compatible with incontinentiapigmenti, and we will detail the clinical progression, diagnosis, and follow-up.

Características clínico-radiológicas bucofaciales del síndrome de McCune-Albright en un adulto: reporte de un caso / Orofacial clinical-radiological features of McCune-Albright syndrome in an adult: a case report / Características clínico-radiológicas orofaciais da síndrome de McCune-Albright num adulto: relato de um caso

RESUMEN La displasia fibrosa es una enfermedad ósea benigna y progresiva, de base genética que puede afectar a uno o varios huesos. Su alta incidencia en la edad pediátrica sirvió de base para que anteriormente fuera considerada exclusiva de esta etapa; sin embargo, a la fecha, existen reportes que evidencian su desarrollo y crecimiento posterior en la segunda década de vida. Cuando está asociada a desequilibrios endocrinos y manchas café con leche, forma parte del síndrome de McCune-Albright. El presente reporte de caso muestra las características clínicas y radiológicas de la región bucofacial de un paciente adulto portador del síndrome de McCune-Albright. Las lesiones en los maxilares afectan la morfología y causan disfunción. A nivel dentario, los cambios producidos se traducen en maloclusión y defectos estructurales. En los estudios radiológicos se observaron cambios con densidad mixta y el patrón de vidrio esmerilado.

ABSTRACT Fibrous dysplasia is a benign and progressive bone disease of genetic basis that can affect one or several bones. Its high incidence in the pediatric age served as a basis for it to be previously considered exclusive to this stage; however, there are reports to date that show its development and later growth in the second decade of life. When associated with endocrine imbalances and café-au-lait spots, it is part of the McCune-Albright syndrome. The present case report shows the clinical and radiologic features of the oral-facial region of an adult patient with McCune-Albright syndrome. Lesions in the jaws affect the morphology and cause dysfunction. At the dental level, the changes produced result in malocclusion and structural defects. Radiological studies showed changes with mixed density and ground glass pattern.

RESUMO A displasia fibrosa é uma doença óssea benigna, progressiva e de base genética que pode afetar um ou mais ossos. A sua elevada incidência no grupo etário pediátrico foi a base para que anteriormente fosse considerada exclusiva desta fase; no entanto, existem relatos até à data do seu desenvolvimento e crescimento mais tardio na segunda década de vida. Quando associada a desequilíbrios endócrinos e manchas café-com-leite, faz parte da síndrome de McCune-Albright. Este relato de caso mostra as características clínicas e radiológicas da região bucofacial de um paciente adulto com síndrome de McCune-Albright. As lesões nos maxilares afetam a morfologia e provocam disfunções. A nível dentário, as alterações produzidas resultam em má oclusão e defeitos estruturais. Nos estudos radiológicos, foram observadas alterações com densidade mista e padrão de vidro despolido.

Improvement effects of azithromycin on bronchopulmonary dysplasia in neonatal rats and its mechanism / 中国药房

OBJECTIVE To investigate the improvement effects of azithromycin on bronchopulmonary dysplasia （BPD） in neonatal rats based on hypoxia-inducible factor-1α（HIF-1α）/HIF-2α/vascular endothelial growth factor （VEGF） pathway. METHODS Sixty newborn SD rats were randomly divided into negative control group （NC）， BPD group， azithromycin group and budesonide group （positive control）， with 15 rats in each group. Rats in NC group were given normal breathing air， while rats in other three groups were exposed to high-concentration oxygen for 14 days to establish BPD rat models. After successful modeling， rats in azithromycin group were intraperitoneally injected with azithromycin 200 mg/kg， and rats in budesonide group were atomized with budesonide 1.5 mg/kg once a day for 14 consecutive days， while rats in BPD group and NC group were not treated. Pathological changes of lung tissue， radial alveolar count and mean alveolar intercept of rats were observed in each group. The white blood cell count in bronchoalveolar lavage fluid （BALF） and the levels of tumor necrosis factor-α （TNF-α）， interleukin-6 （IL-6）， IL-1β， superoxide dismutase （SOD）， catalase （CAT） and malondialdehyde （MDA） were detected； mRNA and protein expressions of VEGF， HIF-1α， HIF-2α were also detected. RESULTS Compared with NC group， the lung tissue in BPD group was obviously damaged； the white blood cell count， average alveolar intercept and the levels of TNF-α， IL-6， IL-1β and MDA were significantly increased； the radial alveolar count， SOD and CAT levels， the relative expressions of VEGF， HIF-1α， HIF-2α mRNA and protein were significantly decreased （P＜0.05）. Compared with BPD group， the changes of the above indexes in azithromycin group and budesonide group were significantly reversed （P＜0.05）. CONCLUSIONS Azithromycin can obviously improve the symptoms of BPD in rats， reduce inflammation and oxidative stress， and exert lung protection， the mechanism of which may be realized by activating HIF-1α/HIF-2α/VEGF pathway.

Risk factors for developmental dysplasia of the hip in infants in Yili area / 公共卫生与预防医学

Objective To investigate the in-hospital screening results of developmental dysplasia of the hip (DDH) in infants and young children in Ili area, and to analyze the risk factors affecting the occurrence of DDH. Methods According to the cluster sampling method 5 536 infants and young children who underwent DDH screening in the pediatric outpatient department and orthopedic outpatient department of our hospital from December 2019 to June 2022 were selected as the research objects. The children who met the diagnostic criteria of DDH were selected as the observation group (n=35), and 100 normal children were selected as the control group. Univariate and multivariate analysis were used to determine the independent risk factors affecting the occurrence of DDH in infants. Results Among the 39 cases were positive in primary screening, 35 cases were positive in secondary screening, and the positive rate was 6.32‰ . The results of single factor analysis showed that the proportion of women, second birth and above, caesarean section, breech delivery, family history, high altitude area, living environment room temperature °C, and leg binding when swaddling in the observation group was higher than that in the control group (P°C and leg binding in infants are related to the occurrence of DDH in infants, which can provide some reference for clinical screening, diagnosis and treatment.

Effect analysis of combined Tiaojingzhuyun mixture and regulating menstration and promoting pregnancy by thirteen acupuncture in treating infertility caused by Follicle dysplasia / 实用医学杂志

Objective To explore the clinical effects of Tiaojing Zhuyun mixture combined with regulating menstration and promoting pregnancy by thirteen acupuncture in the treatment of Declining Ovarian Function(DOR)combined with follicular dysplasia infertility.Methods From January 1,2022 to January 1,2023,60 cases of infertility patients with DOR follicular dysplasia were treated in our hospital,and the above cases were randomly divided into experimental group:Tiaojing Zhuyun mixture+ regulating menstration and promoting pregnancy by thirteen acupuncture + Clomiphene group;Control group:Clomiphene group,30 cases each.The improvement of FSH,maximum follicle size and ovulation,uterine artery blood flow index,endometrial thickness and pregnancy were observed after treatment.Results The improvement of follicle stimulating hormone,maximum follicle size,endometrial thickness and uterine artery blood flow indexes in Tiaojing Zhuyun mixture+ regulating menstration and promoting pregnancy by thirteen acupuncture + Clomiphene group were better than clomiphene group.The difference between groups was statistically significant(P＜0.05).The ovulation rate was 66.7%and the pregnancy rate was 40%.The ovulation rate was 40%higher than the control group,and the pregnancy rate was 20%.The difference between groups was statistically significant(P＜0.05).Conclusion In the patients with DOR follicular dysplasia infertility,Tiaojing Zhuyun mixture combined with regulating menstration and promoting pregnancy by thirteen acupuncture can improve the level of follicle stimulating hormone,promote follicular maturation and ovula-tion,reduce the resistance of uterine artery blood flow,increase the thickness of endometrial,promote pregnancy,and have fewer adverse reactions.

Effect of histologic chorioamnionitis on clinical outcomes in preterm infants with a gestational age less than 34 weeks:a propensity score matching study / 天津医药

Objective To explore the effect of histologic chorioamnionitis(HCA)on clinical outcomes of preterm infants with a gestational age<34 weeks.Methods This retrospective study enrolled 497 cases of premature infants with a gestational age<34 weeks and their mothers who were hospitalized in the Qingdao Women and Children's Hospital from January 2019 to December 2022.According to whether the pathology of placenta was diagnosed as HCA or not,patients were divided into the HCA group(257 cases)and the control group(240 cases).The propensity score matching analysis was performed at a ratio of 1︰1.Ten items were matched,including gestational age,birth weight,gender,cesarean section,gestational diabetes mellitus,gestational hypertension,placental abruption,premature rupture of membranes,use of antenatal glucocorticoids and assisted reproductive technology.The differences of major complications and survival rate were compared between the two groups.Results A total of 156 pairs premature infants were successfully matched.Before matching,the incidences of early-onset sepsis(EOS)and bronchopulmonary dysplasia(BPD)were higher in the HCA group than those of the control group(26.1%vs.7.5%,45.1%vs.25.8%,P＜0.01).The incidence of EOS was higher in the HCA group than that of the control group after matching(24.4%vs.7.7%,P＜0.01),and the incidence of neonatal respiratory distress syndrome(NRDS)was significantly lower in the HCA group than that in the control group after matching(34.0%vs.46.8%,P＜0.05).There were no significant differences in survival rate and the incidences of other complications between the two groups before and after matching(P>0.05).Conclusion Preterm infants exposed to HCA have a higher risk of EOS and a lower risk of NRDS after propensity score matching.HCA has no significant effect on survival rate and other complications of premature infants.

Changes in pulmonary pericytes and tube formation of pulmonary vascular endothelial cells in mouse models of broncho-pulmonary dysplasia / 中国组织工程研究

BACKGROUND:Pulmonary pericytes are located at the concavity where pulmonary vessels are interconnected,which is closely related to the formation and stability of pulmonary vascularization.However,there are few studies on how pulmonary pericytes affect the activity of pulmonary vascular endothelial cells in the pathogenesis of broncho-pulmonary dysplasia. OBJECTIVE:To analyze the relationship between the quantity of subgroups of pulmonary pericytes and endothelial cells in different stages of broncho-pulmonary dysplasia and to explore the effects of PDGFR-β+NG2+α-SMA+ pericytes on the early tube-forming activity of pulmonary vascular endothelial cells. METHODS:(1)Animal experiment:Twelve newborn C57BL/6 mice were randomly divided into normoxia and hyperoxia groups within 24 hours of birth,with six mice in each group.Mice in the hyperoxia group were exposed to an 85%O2 environment to build the mouse models of broncho-pulmonary dysplasia,while those in the normoxia group were fed in the same room air.The lung tissues of the mice in the two groups were taken at 7 and 14 days after birth.The pathological changes of the lung tissues were observed by hematoxylin-eosin staining.Three subgroups of pulmonary pericytes were measured by flow cytometry:PDGFR-β+NG2+α-SMA-,PDGFR-β+NG2+α-SMA+,and PDGFR-β+NG2-α-SMA+ cells.(2)Cellular experiment:Passage 3 PDGFR-β+NG2+α-SMA+ pericytes were co-cultured with mouse pulmonary vascular endothelial cells(experimental group)at a ratio of 1:4.Mouse pulmonary vascular endothelial cells cultured alone were used as controls.The tube-forming difference between two groups was analyzed after 15 hours of co-culture. RESULT AND CONCLUSION:(1)Animal experiment:Hematoxylin-eosin staining revealed that on day 7,the lung tissue of mice in the normoxia group had regular structure,obvious alveolar structure,and uniform size,while the number of alveoli in the lung tissue of mice in the hyperoxia group was less and the morphology of alveoli was irregular.On day 14,the alveoli of mice in the normoxia group gradually developed and matured,the alveolar structure gradually became regular and uniform in size,and the alveolar density gradually increased.The lung tissue structure of mice in the hyperoxia group was relatively disordered and the alveolar formation was delayed with the size gradually increasing and the alveolar structure being simplified.Flow cytometry results indicated that the number of PDGFR-β+NG2-α-SMA+ and PDGFR-β+NG2+α-SMA+ pericytes was increased in the hypoxia group compared with the normoxia group(P＜0.01),while the number of PDGFR-β+NG2+α-SMA-pericytes and pulmonary vascular endothelial cells was decreased(P＜0.01,P＜0.04).(2)Cellular experiment:In the control group,the pulmonary vascular endothelial cells arranged in cords and extended around,and lumen-like structures formed in some areas.In the experimental group,PDGFR-β+NG2+α-SMA+ pericytes and their pseudopodia were not observed,the irregular grid structure of pulmonary vascular endothelial cells was significantly less than that of the control group,and the endothelial cells mainly clustered in clumps.To conclude,α-SMA+ pericyte subgroups are predominant in mice with broncho-pulmonary dysplasia.PDGFR-β+NG2+α-SMA+ pericytes can directly inhibit the tube-forming activity of pulmonary vascular endothelial cells,which may be involved in the process of abnormal vascularization in broncho-pulmonary dysplasia.