Clinical and pathological analysis of 345 cases of vulvar lichen sclerosus and a preliminary study on the frequency of maintenance treatment / 中华妇产科杂志

Objective: To analyze and summarize the clinical and pathological characteristics, management, and efficacy of patients with vulvar lichen sclerosus (VLS) through a single center large sample study, and preliminarily to explore the frequency of maintenance treatment medication for VLS. Methods: The clinical data of VLS patients in Obstetrics and Gynecology Hospital of Fudan University from 2018 to 2021 were retrospectively collected. The clinicopathological characteristics (patients' age, course of disease, complicated disease history, family history, symptoms, signs and pathology), treatment and effects were retrospectively analyzed. The patients in the maintenance treatment stage were followed up regularly to explore the minimum frequency of individual medication to maintain the stability of the disease. Results: (1) General situation: a total of 345 patients with VLS were included in this study. The average age was (50.4±14.7) years (ranged from 8 to 84 years old), prevalence was highest in the 50-59 years group (30.1%, 104/345). Immune diseases occurred in 18.6% (33/177) of patients, 24.3% (43/177) of patients had allergic skin diseases, and 5.6% (10/177) of the patients' immediate family members had chronic vulvar pruritus or vulvar hypopigmentation. (2) Clinical features: the most common symptom was vulvar pruritus (96.1%, 196/204) among 204 patients with recorded symptoms. The most common sign was hypopigmentation of the vulva (96.3%, 206/214). The most common involved sites were labia minora (70.3%, 142/202), labia majora (67.8%, 137/202), and labial sulcus (59.4%, 120/202). The cumulative number of sites involved in 62 vulvar atrophy patients (2.7±1.1) was significantly higher than that in 152 non-atrophy patients (2.2±1.0; t=3.48, P=0.001). The course of vulvar atrophy was (9.3±8.5) years, which was significantly longer than that of non-atrophy patients [(6.6±5.6) years; t=2.04, P=0.046]. (3) Pathological features: among the 286 patients with electronic pathological sections, the most common pathological feature in the epidermis was epithelial nail process passivation (71.3%, 204/286). The common pathological features in the dermis were interstitial collagenization (84.6%, 242/286), and inflammatory cell infiltration (73.8%, 211/286). (4) Treatment: 177 patients received standardized treatment after diagnosis and were followed up regularly in our hospital. In the initial treatment stage, 26.0% (46/177) of the patients were treated with 0.05% clobetasol propionate cream, and 74.0% (131/177) of the patients were treated with 0.1% mometasone furoate ointment. The complete remission rates of the two methods were respectively 80.4% (37/46) and 74.0% (97/131), and there was no statistically significant difference (χ²=0.76, P=0.385). During maintenance treatment, 27.1% (48/177) of the patients took the medication twice a week, 35.0% (62/177) took the medication once a week, and 37.9% (67/177) took the medication once every 10 days. During follow-up after 6 months of maintenance treatment, there were no patients with recurrence of pruritus or progression of vulvar signs. Conclusions: The majority of VLS patients have itching, hypopigmentation, involvement of labia minora and labia majora, progressive atrophy, and inflammatory infiltration of dermis. Local treatments of mometasone furoate and clobetasol propionate have good initial therapeutic effects. The frequency exploration of individualized maintenance treatment could minimize the occurrence of adverse reactions when ensuring the stability of the patients' condition.

Lipotransferencias en defectos estéticos post neuroquirúrgicos / Lipotransferences in post neurosurgical aesthetic defects

Introducción y objetivo: Existen numerosos procedimientos en los cuales más allá de la adecuada manipulación del músculo temporal y del cierre craneal, los pacientes pueden presentar defecto óseo, muscular por atrofia y asimetría facial consecuente, provocando un malestar psicológico y deterioro funcional. Nuestro equipo decidió aunar los conocimientos de cirugía plástica y aplicarlos a reconstrucciones craneales con lipotranferencias en pacientes post neuroquirúrgicos. El objetivo del siguiente trabajo consiste en presentar los resultados en una serie de pacientes donde se aplicó la mencionada técnica. Materiales y métodos: Durante 2022 se realizaron 45 procedimientos de lipotransferencias para corrección de defectos craneofaciales, de los cuales 29 fueron femeninos y 16 masculinos. Todos presentaban el antecedente quirúrgico de craneotomías pterionales y sus variantes, abordajes orbitocigomáticos y transcigomáticos, con el consiguiente déficit de volumen. Resultados: El procedimiento se realizó de manera ambulatoria, con anestesia local y en un tiempo promedio de 30 a 40 minutos. Se utilizó como zona donante la región hemiabdominal inferior; procesamiento de la grasa mediante técnica de decantación e inyección en la zona receptora a nivel craneo facial. Los pacientes toleraron el procedimiento adecuadamente sin complicaciones intraoperatoria ni eventos sobreagregados. Conclusión: La lipotransferencia constituye una técnica mínimamente invasiva, con baja morbilidad y altas tasas de efectividad en cuanto al resultado estético y a la satisfacción por parte del paciente. Es una herramienta que todo neurocirujano debería considerar ante un defecto secundario a un abordaje anterolateral a la base del cráneo(AU)

Background: There are numerous procedures in which, beyond adequate manipulation of the temporalis muscle and cranial closure, patients may present bone and muscle defects due to atrophy and consequent facial asymmetry, causing psychological discomfort and functional deterioration. Our team decided to combine the knowledge of plastic surgery and apply it to cranial reconstructions with fat transfers in post neurosurgical patients. The objective of the following work is to present the results in a series of patients where the aforementioned technique was applied. Methods: During the year 2022, 45 fat transfer procedures were performed for the correction of craniofacial defects, of which 29 were female and 16 male. All had a surgical history of pterional craniotomies and their variants, orbitozygomatic and transzygomatic approaches, with the consequent volume deficit. Results: The procedure was performed on an outpatient basis, with local anesthesia and in an average time of 30 to 40 minutes. The lower hemiabdominal region was used as the donor area, processing the fat using the decantation technique and injection into the receptor area at the craniofacial level. The patients tolerated the procedure adequately without intraoperative complications or superadded events. Conclusion: Fat transfer is a minimally invasive technique, with low morbidity and high rates of effectiveness in terms of aesthetic results and patient satisfaction. It is a tool that every neurosurgeon should consider when faced with a defect secondary to an anterolateral approach to the skull base(AU)

The use of zygomatic implants in severe maxillary atrophy: a systematic and meta-analysis review of randomised clinical trials / El uso de implantes zigomáticos para atrofia maxilar severa: una revisión sistemática y meta-análisis de ensayos clínicos aleatorizados

SUMMARY: Conventional implant treatment cannot always be used to rehabilitate edentulous patients with advanced maxillary atrophic. Zygomatic dental implants have been used over the past 20 years as an alternative treatment solution to bone grafting. The purpose of this meta-analysis is to evaluate the implant and prosthetic survival rate in non-oncologic patients with a severely atrophic maxilla. This review also aims to better understand the rate of peri-operative complications in this cohort of patients. A multi-database (PubMed, MEDLINE, EMBASE, and CINAHAL) focused systematic search was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) recommendations. Any randomised control trials studies involving human participants treated with zygomatic osseous implants were included. After eliminating duplicates, a total of 4 studies met the inclusion criteria for this meta-analysis review. With all the studies included there was a total of 174 patients treated with zygomatic osseous implants. The overall implant success rate was 98.03 %. The prosthetic success rate was 96.4 %. The most frequent peri-operative complication was sinusitis. Based on the limited data available in literature, zygomatic dental implants represent a valid alternative to bone augmenting procedure. However, they are not without risks and longer follow-ups are required to confirm the validity of the treatment in long term.

Los tratamientos convencionales con implantes no siempre pueden ser usados para rehabilitar pacientes edentulos con atrofia maxilar avanzada. Los implantes dentales zigomáticos son usados por los pasados 20 años como alternativa de tratamiento a las reconstrucciones óseas. El objetivo de este meta-análisis es evaluar la sobrevida de implantes y prótesis en pacientes no oncológicos con maxila severamente atrófica. Esta revisión también pretende entender al promedio de complicaciones peri operatorias en esta cohorte de pacientes. Una búsqueda sistemática en bases de datos múltiples (PubMed, MEDLINE, EMBASE y CINAHAL) fue desarrollada de acuerdo a recomendaciones de Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). Cualquier estudio clínico aleatorizado de participantes humanos donde se utilizaron los implantes zigomáticos fueron incluidos. Después de eliminar duplicados, un total de 4 estudios cumplieron los criterios de inclusión para esta meta análisis. Con todos los estudios incluidos se obtuvieron 174 pacientes tratados con implantes zigomáticos. El promedio de éxito fue de 98,03 %. El promedio de éxito de la rehabilitación fue de 96,4 %. La complicación mas frecuente fue la sinusitis. Basados en los datos limitados en la literatura, los implantes zigomáticos representan una alternativa valida a los procedimientos de aumento óseo. Sin embargo, estos no están libres de riesgos y seguimientos de mayores periodos son necesarios para confirmar la validez de los tratamientos en el largo plazo.

Analysis of TUBB4A gene variant in a patient with adolescent-onset hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical characteristics and genetic etiology of a patient with adolescent-onset hypomyelinated leukodystrophy with atrophy of basal ganglia and cerebellum (H-ABC).@*METHODS@#A patient who was diagnosed with H-ABC in March 2018 at the First Affiliated Hospital of Nanjing Medical University was selected as the study subject. Clinical data was collected. Peripheral venous blood samples of the patient and his parents were collected. The patient was subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing.@*RESULTS@#The patient, a 31-year-old male, had manifested with developmental retardation, cognitive decline and abnormal gait. WES revealed that he has harbored a heterozygous c.286G>A variant of the TUBB4A gene. Sanger sequencing confirmed that neither of his parents has carried the same variant. Analysis with SIFT online software indicated the amino acid encoded by this variant is highly conserved among various species. This variant has been recorded by the Human Gene Mutation Database (HGMD) with a low population frequency. The 3D structure constructed by PyMOL software showed that the variant has a harmful effect on the structure and function of the protein. According to the guidelines formulated by the American College of Medical Genetics and Genomics (ACMG), the variant was rated as likely pathogenic.@*CONCLUSION@#The c.286G>A (p.Gly96Arg) variant of the TUBB4A gene probably underlay the hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum in this patient. Above finding has enriched the spectrum of TUBB4A gene variants and enabled early definitive diagnosis of this disorder.

Clinical characteristics and genetic analysis of a case with adult neuronal ceroid lipofuscinosis type 7 due to variant of MFSD8 gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical characteristics and genetic variants in a patient with adult ceroid lipofuscinosis neuronal type 7 (ACLN7).@*METHODS@#A female patient diagnosed with ACLN7 in Henan Provincial People's Hospital in June 2021 was selected as the study subject. Clinical data, auxiliary examination and result of genetic testing were retrospectively analyzed.@*RESULTS@#The patient, a 39-year-old female, has mainly presented progressive visual loss, epilepsy, cerebellar ataxia and mild cognitive decline. Neuroimaging analysis has revealed generalized brain atrophy, prominently cerebellum. Fundus photography has revealed retinitis pigmentosa. Ultrastructural skin examination has revealed granular lipofuscin deposits in the periglandular interstitial cells. Whole exome sequencing revealed that she has harbored compound heterozygous variants of the MSFD8 gene, namely c.1444C>T (p.R482*) and c.104G>A (p.R35Q). Among these, c.1444C>T (p.R482*) was a well established pathogenic variant, while c.104G>A (p.R35Q) was a missense variant unreported previously. Sanger sequencing confirmed that the daughter, son and elder brother of the proband have respectively carried heterozygous c.1444C>T (p.R482*), c.104G>A (p.R35Q), and c.104G>A (p.R35Q) variants of the same gene. The family has therefore fit with the autosomal recessive inheritance pattern of the CLN7.@*CONCLUSION@#Compared with previously reported cases, this patient has the latest onset of the disease with a non-lethal phenotype. Her clinical features have involved multiple systems. Cerebellar atrophy and fundus photography may be indicative of the diagnosis. The c.1444C>T (p.R482*) and c.104G>A (p.R35Q) compound heterozygous variants of the MFSD8 gene probably underlay the pathogenesis in this patient.

Magnetic resonance imaging features of cerebellar atrophy pattern after epilepsy / 中南大学学报(医学版)

OBJECTIVES@#Clinically, it has been found that some patients with epilepsy are accompanied by cerebellar atrophy that is inconsistent with symptoms, but the pattern of cerebellar atrophy after epilepsy and the role of cerebellar atrophy in the mechanism of epilepsy have not been elucidated. This study aims to explore the specific pattern of cerebellar atrophy after epilepsy via analyzing magnetic resonance images in patients with postepileptic cerebellar atrophy.@*METHODS@#A total of 41 patients with epilepsy, who received the treatment in Xiangya Hospital of Central South University from January 2017 to January 2022 and underwent cranial MRI examination, were selected as the case group. The results of cranial MRI examination of all patients showed cerebellar atrophy. In the same period, 41 cases of physical examination were selected as the control group. General clinical data and cranial MRI results of the 2 groups were collected. The maximum area and signal of dentate nucleus, the maximum width of the brachium pontis, the maximum anterior-posterior diameter of the pontine, and the maximum transverse area of the fourth ventricle were compared between the 2 groups. The indexes with difference were further subjected to logistic regression analysis to clarify the characteristic imaging changes in patients with cerebellar atrophy after epilepsy.@*RESULTS@#Compared with the control group, the maximum width of the brachium pontis and the maximum anterior-posterior diameter of the pontine were decreased significantly, the maximum transverse area of the fourth ventricle was increased significantly in the case group (all P<0.05). The difference in distribution of the low, equal, and high signal in dentate nucleus between the 2 groups was statistically significant (χ2=43.114, P<0.001), and the difference in the maximum area of dentate nucleus between the 2 groups was not significant (P>0.05). The maximum width of the brachium pontis [odds ratio (OR)=3.327, 95% CI 1.454 to 7.615, P=0.004] and the maximum transverse area of the fourth ventricle (OR=0.987, 95% CI 0.979 to 0.995, P=0.002) were independent factors that distinguished cerebellar atrophy after epilepsy from the normal control, while the anterior-posterior diameter of pontine (OR=1.456, 95% CI 0.906 to 2.339, P>0.05) was not an independent factor that distinguished them.@*CONCLUSIONS@#In MRI imaging, cerebellar atrophy after epilepsy is manifested as significant atrophy of the brachium pontis, significant enlargement of the fourth ventricle, and increased dentate nucleus signaling while insignificant dentate nucleus atrophy. This particular pattern may be associated with seizures and exacerbated pathological processes.

Clinical effects of fractional carbon dioxide laser combined with minimally invasive scar release in the treatment of post-acne atrophic scars / 中华烧伤杂志

Objective: To explore the clinical effects of fractional carbon dioxide laser combined with minimally invasive scar release in the treatment of post-acne atrophic scars. Methods: A retrospectively observational study was conducted. From January to June 2021, 60 patients with grade 3 and 4 post-acne atrophic scars who met the inclusion criteria were admitted to the First Affiliated Hospital of Henan University of Traditional Chinese Medicine. According to the adopted treatment methods, 30 patients treated with fractional carbon dioxide laser combined with minimally invasive scar release were included in combined treatment group (19 males and 11 females, aged (26±4) years), and 30 patients treated with fractional carbon dioxide laser alone were included in laser alone group (18 males and 12 females, aged (25±6) years). All the patients received the treatment once every two months, totally 3 times. Before the first treatment and 2 months after the last treatment, the scars were assessed by échelle d'évaluation clinique des cicatrices d'acné (ECCA). In 2 months after the last treatment, the curative effect was evaluated and the total effective rate was calculated according to the ECCA score. The adverse reactions of patients during the treatment were recorded. Data were statistically analyzed with independent sample t test, Wilcoxon rank-sum test, Mann-Whitney U test, chi-square test, and Fisher's exact probability test. Results: Before the first treatment, the ECCA scores of patients in the two groups were similar (P>0.05). In 2 months after the last treatment, the ECCA scores of patients in combined treatment group were significantly lower than those of laser alone group (Z=-2.89, P<0.05). The ECCA scores of patients in combined treatment group and laser alone group in 2 months after the last treatment were both significantly lower than those before the first treatment (with Z values of -4.81 and -4.79, respectively, P<0.05). In 2 months after the last treatment, the treatment in laser alone group cured the scars in 2 patients, and were markedly effective in 13 patients, effective in 7 patients, and ineffective in 8 patients; the treatment in combined treatment group cured the scars in 4 patients, and were markedly effective in 22 patients, effective in 3 patients, and ineffective in one patients. The total effective rate of scar treatment in combined treatment group (96.67%, 29/30) was significantly higher than 73.33% (22/30) in laser alone group (P<0.05). During treatment, in combined treatment group, 3 patients had pain, one patient had redness and swelling, and one patient had pigmentation. In laser alone group, one patient had pain, and 2 patients had pigmentation. No infection occurred in the wounds of all the patients in the two groups. Conclusions: Compared with fractional carbon dioxide laser alone, fractional carbon dioxide laser combined with minimally invasive scar release for post-acne atrophic scars can result in a higher total effective rate, with simple operation and good effect, so it is worthy of clinical application.

Research progress on the biological effects of HIF-1α on follicle development and ovulation / 生理学报

Hypoxia inducible factor-1α (HIF-1α), as a hypoxia inducible factor, affects women's reproductive function by regulating the development and excretion of follicles. HIF-1α induces glycolysis and autophagy in the granule cells by promoting oocyte development, regulating the secretion of related angiogenic factors, and improving follicle maturity. In addition, HIF-1α promotes the process of luteinization of follicular vesicles, maintains luteal function, and finally completes physiological luteal atrophy through cumulative oxidative stress. Dysfunction of HIF-1α will cause a series of pathological consequences, such as angiogenesis defect, energy metabolism abnormality, excessive oxidative stress and dysregulated autophagy and apoptosis, resulting in ovulation problem and infertility. This article summarizes the previous studies on the regulation of follicle development and excretion and maintenance of luteal function and structural atrophy by HIF-1α. We also describe the effective intervention mechanism of related drugs or bioactive ingredients on follicular dysplasia and ovulation disorders through HIF-1α, in order to provide a systematic and in-depth insights for solving ovulation disorder infertility.

iPSCs ameliorate hypoxia-induced autophagy and atrophy in C2C12 myotubes via the AMPK/ULK1 pathway

BACKGROUND: Duchenne muscular dystrophy (DMD) is an X-linked lethal genetic disorder for which there is no effective treatment. Previous studies have shown that stem cell transplantation into mdx mice can promote muscle regeneration and improve muscle function, however, the specific molecular mechanisms remain unclear. DMD suffers varying degrees of hypoxic damage during disease progression. This study aimed to investigate whether induced pluripotent stem cells (iPSCs) have protective effects against hypoxia-induced skeletal muscle injury. RESULTS: In this study, we co-cultured iPSCs with C2C12 myoblasts using a Transwell nested system and placed them in a DG250 anaerobic workstation for oxygen deprivation for 24 h. We found that iPSCs reduced the levels of lactate dehydrogenase and reactive oxygen species and downregulated the mRNA and protein levels of BAX/BCL2 and LC3II/ LC3I in hypoxia-induced C2C12 myoblasts. Meanwhile, iPSCs decreased the mRNA and protein levels of atrogin-1 and MuRF-1 and increased myotube width. Furthermore, iPSCs downregulated the phosphorylation of AMPKA and ULK1 in C2C12 myotubes exposed to hypoxic damage. CONCLUSIONS: Our study showed that iPSCs enhanced the resistance of C2C12 myoblasts to hypoxia and inhibited apoptosis and autophagy in the presence of oxidative stress. Further, iPSCs improved hypoxia-induced autophagy and atrophy of C2C12 myotubes through the AMPK/ULK1 pathway. This study may provide a new theoretical basis for the treatment of muscular dystrophy in stem cells.

The challenges of reconstruction and rehabilitation of atrophic jaw with an autogenous graft from skull cap ­ a case report / Os desafios da reconstrução e reabilitação de mandíbula atrófica com enxerto autógeno de calota craniana ­ relato de caso

Introduction: One of the challenges of maxillofacial surgery is the rehabilitation of patients with severe bone loss, using implant-supported prostheses. This challenge is based on the small remaining bone structure, and on the need to reconstruct the structure for the rehabilitation with autogenous or exogenous grafts. Case report: We report the case of a patient with severe maxillary atrophy, where a skullcap graft was performed associated with implant placement and prosthetic completion 14 months after the start of treatment. Final considerations: We demonstrate clinical safety for the use of extraoral grafts without complications, representing a good alternative treatment for this group of patients.

Introdução: um dos desafios da cirurgia bucomaxilofacial é a reabilitação de pacientes com perda óssea severa, utilizando próteses implantossuportadas. Este desafio baseia-se na pequena estrutura óssea remanescente e na necessidade de reconstrução da estrutura para a reabilitação com enxertos autógenos ou exógenos. Relato de caso: Relatamos o caso de um paciente com atrofia maxilar grave, onde foi realizado enxerto de calota craniana associado à instalação de implante, com finalização protética 14 meses após o início do tratamento. Consideracoes finais: Demonstramos segurança clínica para o uso de enxertos extrabucais sem complicações, representando uma boa alternativa de tratamento para este grupo de pacientes.

Follow up analysis of 6 patients with severe trimethyltin chloride poisoning for 4 years / 中华劳动卫生职业病杂志

Objective: Objective to investigate the health changes of patients with severe trimethyltin chloride (TMT) poisoning in four years. Methods: Six patients with severe TMT poisoning treated in the First Affiliated Hospital of Gannan Medical College in August 2016 were numbered 1, 2, 3, 4, 5 and 6 respectively. The patients were followed up 0.5, 2 and 4 years after poisoning and compared and analyzed. The follow-up contents include: symptom degree, score of simple mental intelligence examination scale (MMSE) and modified Rankin Scale (MRS) , cranial magnetic resonance imaging (MRI) , EEG, etc. Results: The symptoms of dizziness, headache, chest tightness, palpitation, nausea and vomiting decreased gradually in 6 patients. The symptoms of speech disorder and memory decline in No.1, 2 and 3 patients gradually increased, and the scores of MMSE and Mrs gradually decreased; Patients No.4, 5 and 6 had improved speech disorder, but their memory decreased, MMSE and Mrs scores were still flat, and mild cognitive impairment. The brain atrophy of No.1, 2 and 3 patients was aggravated, which showed obvious atrophy of hippocampus, temporal lobe, insular lobe and cerebellum and enlargement of ventricle; There was no significant change in brain atrophy in No.4, 5 and 6 patients. Conclusion: The neurotoxic symptoms in the later stage of severe TMT poisoning are still serious, and the neurotoxic time is long.

Clinical analysis of 30 cases of basal ganglia germinoma in children / 北京大学学报(医学版)

OBJECTIVE@#To summarize and analyze the clinical characteristics of children with basal ganglia germinoma and to improve the level of early clinical diagnosis.@*METHODS@#The clinical data of children diagnosed with basal ganglia germinoma admitted to the Pediatric Surgery Ward of Peking University First Hospital from January 2013 to December 2020 were retrospectively analyzed, and descriptive statistics were used to analyze the clinical characteristics of children with basal ganglia germinoma.@*RESULTS@#A total of 30 patients were included in the study, 28 were male, 2 were female, the mean age at onset was (9.7±2.2) years, the median disease duration was 7 months, 27 had unilateral disease, and 3 had bilateral disease. The clinical manifestations were decreased limb muscle strength, cognitive function disorders, polydipsia, precocious puberty, intracranial hypertension, dysphonia and swallowing dysfunction. The serum and cerebrospinal fluid tumor marker alpha-fetoprotein (AFP) were normal in the 30 patients, and the serum and cerebrospinal fluid tumor marker β-human chorionic gonadotropin (β-HCG) were normal in 8 patients.The serum β-HCG was normal in 11 patients but the cerebrospinal fluid β-HCG was slightly elevated, and the serum and cerebrospinal fluid β-HCG were slightly elevated in 11 patients. A total of 33 lesions with irregular shapes were found by imaging examination, including 15 (45.5%) patchy lesions, 10 (30.3%) patchy lesions, and 8 (24.2%) round-like high-density lesions. Tumors showed obvious high-density shadows on computed tomography (CT) scan. Magnetic resonance imaging (MRI) scan of the tumors showed low or isointensity on T1WI and isointensity on T2WI, accompanied by mild peritumoral edema, hemispheric atrophy, cerebral peduncle atrophy, calcification, cystic degeneration, ventricular dilatation and wallerian degeneration. On contrast-enhanced scans, the tumor showed no enhancement or heterogeneous enhancement.@*CONCLUSION@#The main age of onset of germ cell tumors in the basal ganglia in children is about 10 years old, and males are absolutely dominant. The clinical features and imaging manifestations have certain characteristics. With both combined, the early diagnosis of germ cell tumors in the basal ganglia can be improved.

Progressive psychomotor regression for 2.5 years in a boy aged 5 years / 中国当代儿科杂志

A boy, aged 5 years, attended the hospital due to progressive psychomotor regression for 2.5 years. Motor function regression was the main manifestation in the early stage, and brain MRI and whole-exome sequencing (WES) of the family showed no abnormalities. After the age of 4 years and 9 months, the boy developed cognitive function regression, and brain MRI showed cerebellar atrophy. The reanalysis of WES results revealed a compound heterozygous mutation, [NM_000520, c.784C>T(p.His262Tyr]), c.1412C>T(p.Pro471Leu)], in the HEXA gene. The enzyme activity detection showed a significant reduction in the level of β-hexosaminidase encoded by this gene. The boy was diagnosed with juvenile Tay-Sachs disease (TSD). TSD has strong clinical heterogeneity, and cerebellar atrophy may be an important clue for the diagnosis of juvenile TSD. The reanalysis of genetic data when appropriate based on disease evolution may improve the positive rate of WES.

Research on clinical and molecular genetics of hereditary spastic paraplegia 11 patients in China / 中南大学学报(医学版)

The hereditary spastic paraplegia (HSP) is a rare hereditary disease in nervous system due to the damage of corticospinal tract. HSP has various inheritance modes, including autosomal dominant inheritance, autosomal recessive inheritance, X-linked inheritance, and mitochondrial inheritance in some cases. At present, there are at least 80 subtypes of HSP. Hereditary spastic paraplegia type 11 (SPG11) is the most common subtype in autosomal recessive inheritance, and its pathogenic factor is KIAA1840 gene, which encodes spatacsin protein. A total of 52 SPG11 patients aged from 4-24 years old have been reported. Their initial symptoms were gait disturbance and/or mental retardation. As the disease develops, they may present with mental retardation, sphincter disturbance, decreased vision, ataxia, amyotrophy, pes arcuatus, ophthalmoplegia, peripheral neuropathy, and others. Except agenesis of the corpus callosum and periventricular white matter changes, patients might show cortical atrophy, ventricular dilation, and cerebellar atrophy, and so on. Chinese SPG11 patients manifested significant clinical and genetical heterogeneity and no obvious gender difference. Of them, 37 pathogenic mutations of KIAA1840 gene were detected, which all introduced truncated mutation of spatacsin protein. KIAA1840 gene frameshift mutation is the most common type of mutation.

Chronic hypoperfusion due to intracranial large artery stenosis is not associated with cerebral β-amyloid deposition and brain atrophy / 中华医学杂志(英文版)

BACKGROUND@#Insufficient cerebral perfusion is suggested to play a role in the development of Alzheimer disease (AD). However, there is a lack of direct evidence indicating whether hypoperfusion causes or aggravates AD pathology. We investigated the effect of chronic cerebral hypoperfusion on AD-related pathology in humans.@*METHODS@#We enrolled a group of cognitively normal patients (median age: 64 years) with unilateral chronic cerebral hypoperfusion. Regions of interest with the most pronounced hypoperfusion changes were chosen in the hypoperfused region and were then mirrored in the contralateral hemisphere to create a control region with normal perfusion. 11C-Pittsburgh compound-positron emission tomography standard uptake ratios and brain atrophy indices were calculated from the computed tomography images of each patient.@*RESULTS@#The median age of the 10 participants, consisting of 4 males and 6 females, was 64 years (47-76 years). We found that there were no differences in standard uptake ratios of the cortex (volume of interest [VOI]: P = 0.721, region of interest [ROI]: P = 0.241) and grey/white ratio (VOI: P = 0.333, ROI: P = 0.445) and brain atrophy indices (Bicaudate, Bifrontal, Evans, Cella, Cella media, and Ventricular index, P > 0.05) between the hypoperfused regions and contralateral normally perfused regions in patients with unilateral chronic cerebral hypoperfusion.@*CONCLUSION@#Our findings suggest that chronic hypoperfusion due to large vessel stenosis may not directly induce cerebral β-amyloid deposition and neurodegeneration in humans.

Clinical Observation of Recombinant Bovine Basic Fibroblast Growth Factor as an Adjuvant Therapy for Patients with Atrophic Acne Scar / 中国医学科学院学报

Objective To study the influence of recombinant bovine basic fibroblast growth factor as an adjuvant therapy on scar alleviation and inflammatory cytokines in patients with atrophic acne scar. Methods The random number table was employed to randomly assign 120 patients with atrophic acne scar into a test group and a control group.Both groups of patients were treated with CO2 lattice laser.After the operation,the control group was routinely smeared with erythromycin ointment and the test group was coated with recombinant bovine basic fibroblast growth factor gel.The clinical efficacy,clinical indicators,scar alleviation,and inflammatory cytokine levels before and after treatment were compared,and adverse reactions were counted. Results The test group had higher total effective rate(P=0.040) and lower total incidence of adverse reactions(P=0.028) than the control group.Compared with the control group,the test group showcased short erythema duration after treatment(P=0.025),early scab forming(P=0.002),and early edema regression(P<0.001).After treatment,the proportion of grade 1 scars graded by Goodman and Baron's acne scar grading system in the test group and control group increased(P=0.001,P=0.027),and the proportion of grade 4 scars decreased(P<0.001,P=0.034).Moreover,the proportion of grade 1 scars in the test group was higher than that in the control group(P=0.031) after treatment,and the proportion of grade 4 scars presented an opposite trend(P=0.031).After treatment,the levels of tumor necrosis factor-α(TNF-α) and interleukin-1β(IL-1β) in both groups declined(all P<0.001),and the test group had lower TNF-α and IL-1β levels than the control group(all P<0.001). Conclusion The recombinant bovine basic fibroblast growth factor gel as an adjuvant therapy of CO2 lattice laser can effectively alleviate the atrophic acne scar,relieve local inflammatory reaction,and has good curative effect and less adverse reactions.

Diagnosis of a child with mitochondrial myopathy and cerebellar atrophy with ataxia due to compound heterozygous variants of MSTO1 gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child with myopathy and cerebellar atrophy with ataxia.@*METHODS@#Clinical examinations and laboratory testing were carried out for the patient. The proband and the parents' genomic DNA was extracted from peripheral blood samples and subjected to trio whole-exome sequencing. Candidate variant was validated by Sanger sequencing.@*RESULTS@#The 1-year-and-8-month-old boy manifested motor developmental delay, ataxia, hypomyotonia, increased serum creatine kinase. Cranial MRI showed cerebellar atrophy with progressive aggravation. Genetic testing revealed that the patient has harbored compound heterozygous variants of the MSTO1 gene, namely c.13delG (p.Ala5ProfsTer68) and c.971C>T (p.Thr324Ile), which were respectively inherited from his mother and father. The former was unreported previously and was predicted to be likely pathogenic, whilst the latter has been reported previously and was predicted to be of uncertain significance.@*CONCLUSION@#The compound heterozygous c.13delG (p.Ala5ProfsTer68) and c.971C>T (p.Thr324Ile) variants probably underlay the disease in the proband. Above finding has enriched the spectrum of MSTO1 gene variants underlying mitochondrial myopathy and cerebellar atrophy with ataxia.

Papel da biópsia da incisura angular no estadiamento da gastrite e na avaliação de risco do câncer gástrico / Role of incisura angularis biopsy in gastritis staging and risk assessment of gastric cancer

Introdução: A atrofia gástrica (AG) e metaplasia intestinal (MI) são condições préneoplásicas no desenvolvimento de câncer gástrico, onde a avaliação endoscópica e histopatológica baseia-se no sistema atualizado de Sydney que inclui uma biópsia da incisura angular (IA) na sua avaliação, assim como os sistemas de estadiamento de risco de câncer gástrico Operative Link on Gastritis Assessment (OLGA) e o Operative Link on Gastritis Assessment using Intestinal Metaplasia (OLGIM). Objetivo: Comparar as classificações OLGA e OLGIM com e sem a biópsia da IA. Além disso, determinar a prevalência de Helicobacter pylori (HP) e das alterações pré-neoplásicas (AG, MI e displasia) por região biopsiada, e ainda identificar os achados exclusivos da IA, além de identificar potenciais fatores de risco para câncer gástrico associados às alterações pré-neoplásicas. Materiais e Métodos: Estudo observacional, retrospectivo e prospectivo, descritivo, unicêntrico com 350 pacientes sem diagnóstico de neoplasia gástrica, que realizaram endoscopia digestiva alta com biópsias na Gastroclínica Itajaí, no período de novembro de 2017 até outubro de 2018 (retrospectivo) e de março de 2020 a maio de 2022. A classificação histopatológica de gastrite obedeceu ao sistema Sydney atualizado, e a avaliação do risco de câncer gástrico aos sistemas OLGA e OLGIM. A metodologia aplicada avaliou os escores dos sistemas OLGA e OLGIM com e sem a avaliação da biópsia da IA. A análise estatística foi realizada utilizando medidas descritivas (frequências, porcentagens, média, desvio padrão, intervalo de confiança de 95%). A comparação entre os ranks foi feita pelo teste de Kruskal-Wallis ou Wilcoxon. Para analisar a relação entre as frequências foi utilizado o teste exato de Fisher bilateral. O score de Wilson com correção de continuidade foi aplicado ao intervalo de confiança. Resultados: A idade mediana foi de 54,7 anos, sendo 52,5% pacientes do gênero feminino e 47,5% do gênero masculino. A comparação entre o protocolo de biópsias empregado (corpo + antro [CA] vs corpo + antro + incisura [CAI]) e os estágios OLGA e OLGIM apresentou uma diminuição significativa em ambos os sistemas de estadiamento quando aplicado o protocolo de biópsia restrito ao corpo e antro (OLGA CAI vs CA; p 0,008 / OLGIM CAI vs CA; p 0,002). A prevalência das lesões pré-malignas (AG, MI e displasia) da mucosa gástrica foi de (33,4%, 34% e 1,1%, respectivamente) na amostra total. A região do antro foi o sítio que apresentou significativamente maior número de alterações (p≤0,0001), exceto para a positividade da infecção por HP, a qual esteve presente em 24,8% dos pacientes. Não foi possível fazer correlação entre os fatores de risco para desenvolvimento do câncer gástrico com os achados histológicos devido à baixa prevalência dos mesmos e a casuística ter resultado em uma amostra bastante limitada. Conclusão: A biópsia da incisura angular é importante porque aumentou o número de casos em estágios mais avançados de atrofia e metaplasia intestinal. O estudo apresentou limitações, onde a principal delas foi a amostra relativamente pequena e composta por indivíduos saudáveis apesar de idosos na sua maior parte

Introduction: Gastric atrophy (GA) and intestinal metaplasia (IM) are pre-neoplastic conditions in the development of gastric cancer, where endoscopic and histopathological evaluation is based on the updated Sydney system that includes a biopsy of the incisura angularis (IA), as well as the Operative Link on Gastritis Assessment (OLGA) and Operative Link on Gastritis Assessment using Intestinal Metaplasia (OLGIM) gastric cancer risk staging systems. Objective: To compare the OLGA and OLGIM classifications with and without IA biopsy. In addition, to determine the prevalence of Helicobacter pylori (HP) and preneoplastic changes (AG and IM) by biopsied region, and to identify the exclusive findings of IA. Also, to identify potential risk factors for gastric cancer associated with pre-neoplastic changes. Materials and Methods: Observational, retrospective and prospective, descriptive, unicentric study with 350 patients without a diagnosis of gastric cancer, who underwent upper digestive endoscopy with biopsies at Gastroclínica Itajaí, from November 2017 to October 2018 (retrospective) and from March 2020 to May 2022. The histopathological classification of gastritis followed the updated Sydney system, and the gastric cancer risk assessment followed the OLGA and OLGIM systems. The methodology applied evaluated the scores of the OLGA and OLGIM systems with and without the assessment of the IA biopsy. Statistical analysis was performed using descriptive measures (frequencies, percentages, mean, standard deviation, 95% confidence interval). Ranks were compared using the Kruskal-Wallis or Wilcoxon tests. To analyze the relationship between the frequencies, the bilateral Fisher's exact test was used. Wilson's score with continuity correction was applied to the confidence interval. Results: The median age was 54,7 years, with 52,5% female patients and 47,4% male patients. The comparison between the used biopsies protocol (corpus + antrum [CA] vs corpus + antrum + incisura angularis [CAI]) and the OLGA and OLGIM stages showed a significant decrease in both staging systems when the biopsy protocol restricted to the corpus and antrum was applied (OLGA CAI vs CA; p 0,008 / OLGIM CAI vs CA; p 0,002). The prevalence of pre-malignant lesions (GA, IM and dysplasia) of the gastric mucosa was (33,4%, 34% and 1,1%, respectively) in the total sample. The antrum region was the site that presented a significantly higher number of alterations (p≤0,0001), except for the positivity of HP infection, which was present in 24,8% of the patients. It was not possible to make a correlation between the risk factors for the development of gastric cancer and the histological findings because the casuistry resulted in a very limited sample with low prevalence of risk factors. Conclusion: Incisura angularis biopsy is important because it increased the number of cases in more advanced stages of intestinal metaplasia and atrophy. The study had limitations, the main one being the relatively small sample composed of healthy individuals, although mostly elderly

Decline in head circumference growth and associated factors in congenital Zika syndrome / Declínio no crescimento do perímetro cefálico e fatores associados à síndrome congênita associada à infecção pelo vírus Zika / Disminución del crecimiento del perímetro cefálico y factores asociados en el síndrome congénito del Zika

Little is known about the evolution of head circumference (HC) in children with congenital Zika syndrome (CZS). This study aims to evaluate HC growth in children with CZS in the first three years of life and identify associated factors. HC data obtained at birth and in neuropediatric consultations from 74 children with CZS were collected from the Child's Health Handbook, parents' reports, and medical records. Predictors of HC z-score were investigated using different mixed-effects models; Akaike's information criterion was used for model selection. The HC z-score decreased from -2.7 ± 1.6 at birth to -5.5 ± 2.2 at 3 months of age, remaining relatively stable thereafter. In the selected adjusted model, the presence of severe brain parenchymal atrophy and maternal symptoms of infection in the first trimester of pregnancy were associated with a more pronounced reduction in the HC z-score in the first three years of life. The decrease of HC z-score in CZS children over the first three months demonstrated a reduced potential for growth and development of the central nervous system of these children. The prognosis of head growth in the first 3 years of life is worse when maternal infection occurs in the first gestational trimester and in children who have severe brain parenchymal atrophy.

Pouco se sabe sobre a evolução do perímetro cefálico (PC) em crianças com síndrome congênita associada à infecção pelo vírus Zika (SCZ) em acompanhamentos contínuos. Este estudo buscou avaliar o crescimento do PC em crianças com SCZ nos primeiros três anos de suas vidas e identificar os fatores associados a ele. Os dados do PC ao nascimento e obtidos em consultas neuropediátricas de 74 crianças com SCZ foram coletados no Cartão da Criança, nos laudos paternos e em seus prontuários. Os preditores de escore-z para PC foram investigados utilizando-se diferentes modelos de efeitos mistos. O critério de informação de Akaike foi utilizado para selecionar os modelos usados. O escore-z de PC diminuiu de -2,7 ± 1,6 ao nascimento para -5,5 ± 2,2 aos 3 meses de idade, mas permaneceu relativamente estável desde então. No modelo ajustado selecionado, a presença de atrofia parênquimal cerebral grave e sintomas maternos de infecção no primeiro trimestre de sua gravidez estiveram associados a uma redução mais acentuada no escore-z de PC nos primeiros três anos de vida dos participantes. A diminuição do escore-z de PC em crianças com SCZ nos primeiros 3 meses de sua vida monstra o potencial reduzido de crescimento e desenvolvimento do sistema nervoso central dessas crianças. O prognóstico de crescimento do perímetro cefálico nos primeiros 3 anos de vida é pior quando a infecção materna ocorreu no primeiro trimestre gestacional e em crianças que tiveram atrofia parênquimal grave.

Se conoce poco sobre la evolución del perímetro cefálico (PC) en niños con síndrome de Zika congénito (SZC) en los seguimientos continuos. El objetivo del estudio fue evaluar el crecimiento del PC en niños con SZC en los primeros 3 años de vida e identificar los factores asociados. Se recogieron datos del PC al nacimiento y obtenidos en las consultas de neuropediatría de 74 niños con SZC a partir de la Tarjeta del Niño, los informes de los padres y los registros médicos. Se investigaron los predictores de la puntuación Z del PC mediante diferentes modelos de efectos mixtos; se utilizó el criterio de información de Akaike para la selección del modelo. La puntuación Z del PC disminuyó de -2,7 ± 1,6 al nacer a -5,5 ± 2,2 a los 3 meses de edad, pero a partir de entonces se mantuvo relativamente estable. En el modelo ajustado seleccionado, la presencia de atrofia grave del parénquima cerebral y los síntomas maternos de infección en el primer trimestre del embarazo se asociaron con una reducción más pronunciada de la puntuación Z del PC en los primeros 3 años de vida. La disminución de la puntuación Z del PC en los niños con SZC durante los primeros 3 meses demuestra el menor potencial de crecimiento y desarrollo del sistema nervioso central de estos niños. El pronóstico del crecimiento de la cabeza en los primeros 3 años de vida es peor cuando la infección materna se produjo en el primer trimestre gestacional y en los niños que tenían una atrofia grave del parénquima cerebral.

Seguimiento a 5 años de prótesis híbrida con subestructura sinterizada. Reporte de caso / Five-year follow-up of hybrid prosthesis with sintered substructure. Case report

RESUMEN: La rehabilitación de rebordes severamente atróficos mediante prótesis híbridas con subestructura cromo-cobalto fabricadas por sinterizado láser asegura el ajuste pasivo, aumentando la estabilidad de los tejidos de soporte a largo plazo. Los controles periódicos y enseñanza de técnicas de higiene son fundamentales para el éxito de rehabilitaciones complejas sobre implantes. El propósito de este reporte de caso es realizar la evaluación clínica y radiográfica a 5 años de prótesis híbridas maxilar y mandibular fabricadas mediante sinterizado láser, encontrándose resultados satisfactorios en la evaluación y seguimiento.

ABSTRACT: Rehabilitation of severely atrophic ridges using hybrid cobalt-chrome substructures manufactured by laser sintering ensures passive fit, increasing support tissue stability. Regular check-ups and the teaching of hygiene techniques are essential for the success of complex implant restorations. The purpose of this case report is to perform a 5-year clinical and radiographic evaluation of hybrid maxillary and mandibular prostheses manufactured using laser sintering, achieving satisfactory results in the evaluation and follow-up.