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1.
Cureus ; 16(3): e56415, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38638760

RESUMO

Introduction Anastomotic leakage is a serious complication in colon and rectal cancer surgeries, contributing to increased mortality rates and extended hospital stays. Despite various preventive measures, including intraoperative assessments and transanal drains, the incidence of anastomotic leakage remains a significant concern. This study investigates the potential efficacy of polyglycolic acid (PGA) sheets in reducing anastomotic leakage rates in gastrointestinal surgeries. Materials & methods A retrospective cohort study was conducted between January 2021 and January 2023 at Nagoya Tokushukai General Hospital, Ogaki Tokushukai Hospital, and Haibara General Hospital. A total of 239 patients undergoing colon or rectal cancer surgery were included. Anastomoses were performed with or without PGA sheets, and groups were compared using statistical analyses, including t-tests, Mann-Whitney U tests, and chi-square tests. The primary endpoint was the incidence of anastomotic leakage. Results Of the 239 patients, anastomotic leakage occurred in 14 (6%). The PGA use group (52 patients) showed no instances of anastomotic leakage while the PGA non-use group (187 patients) had 14 cases. Comparisons revealed significant differences in anastomotic leakage rates (p=0.04) between the two groups. Univariate analysis demonstrated a lower incidence of anastomotic leakage associated with PGA use (p=0.04). However, no significant differences were observed for transanal drainage (p=0.66), smoking (p=0.76), steroid use (p=1), and preoperative chemotherapy (p=0.07). Conclusion This study suggests that the use of PGA sheets in gastrointestinal anastomosis may contribute to a lower incidence of anastomotic leakage. The findings highlight the need for further prospective studies with a larger sample size, distinguishing between colon and rectum surgeries. Despite the limitations of this retrospective study, the observed reduction in anastomotic leakage frequency with PGA sheet use is noteworthy, emphasizing the potential significance of this approach in preventing a critical complication in colorectal surgeries.

2.
Phys Rev E ; 107(6-1): 064701, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37464696

RESUMO

The response to an applied electric field in the q_{T}=1/2 subphase of the MC881-MC452 binary mixture system is studied by using thick homeotropically aligned cells. In the ordinary antiferroelectric SmC_{A}^{*} and 1/2 (sub)phases, some nonplanar asymmetric distortions in the antiferroelectric unit cell structure produce induced polarization in the applied field direction, starts to unwind the helix from the beginning, and tends to align the averaged tilt plane direction parallel to the applied field. In the 1/2 subphase under consideration, however, the helix resists being deformed at the beginning and then the thresholdlike steep increase of birefringence Δn occurs in the transition from 1/2 to unwound SmC^{*} at a field of less than 0.5 V/µm; we conclude that the thermal fluctuations play an important role in promoting the director flip-flopping in a single layer under the applied field and bring about additional induced polarization, which counteracts the aforementioned ordinary induced one and prevents the helix from unwinding. This suggests that the Langevin-like director reorientation is the mechanism of the V-shaped switching which was actually observed in the thin films of Mitsui mixture [Phys. Rev. Lett. 87, 015701 (2001)0031-900710.1103/PhysRevLett.87.015701] and must have been used in prototyped thresholdless antiferroelectric liquid-crystal displays.

3.
J Cell Sci ; 136(9)2023 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-37162093

RESUMO

Characterizing functions of essential genes is challenging, as perturbing them is generally lethal. Conditional gene perturbation, including use of temperature-sensitive mutants, has been widely utilized to reveal functions of essential genes in the fission yeast Schizosaccharomyces pombe. However, recently we implemented a systematic and less time-consuming knockdown method, CRISPR interference (CRISPRi), in this organism using catalytically inactive Cas9 (dCas9). This technology has been expected to facilitate characterization of essential genes in S. pombe, although this still has not occurred. Here, CRISPRi was harnessed to study uncharacterized essential genes that are evolutionally conserved from yeasts to mammals. Transcription of these genes, which we call conserved essential obscure (ceo) genes, was repressed using conventional dCas9-mediated CRISPRi and by implementing technologies that enhance repression efficiency or alleviate limitations on small guide RNA (sgRNA) design. These CRISPRi methods successfully reduced transcription of target genes and allowed us to characterize resulting phenotypes. Knockdown of ceo genes inhibited cell proliferation and altered cellular morphology. Thus, dCas9-based CRISPRi methods utilized in this study enhanced accessibility of genetic analyses targeting essential genes in S. pombe.


Assuntos
Schizosaccharomyces , Animais , Schizosaccharomyces/genética , Proliferação de Células , Técnicas de Silenciamento de Genes , Fenótipo , Mamíferos
4.
Biomolecules ; 13(4)2023 04 21.
Artigo em Inglês | MEDLINE | ID: mdl-37189462

RESUMO

Isolation and introduction of genetic mutations is the primary approach to characterize gene functions in model yeasts. Although this approach has proven very powerful, it is not applicable to all genes in these organisms. For example, introducing defective mutations into essential genes causes lethality upon loss of function. To circumvent this difficulty, conditional and partial repression of target transcription is possible. While transcriptional regulation techniques, such as promoter replacement and 3' untranslated region (3'UTR) disruption, are available for yeast systems, CRISPR-Cas-based technologies have provided additional options. This review summarizes these gene perturbation technologies, including recent advances in methods based on CRISPR-Cas systems for Schizosaccharomyces pombe. We discuss how biological resources afforded by CRISPRi can promote fission yeast genetics.


Assuntos
Sistemas CRISPR-Cas , Edição de Genes , Técnicas de Silenciamento de Genes , Schizosaccharomyces , Transcrição Gênica , Regulação Fúngica da Expressão Gênica , Schizosaccharomyces/genética , Edição de Genes/métodos , Mutação , Estudo de Associação Genômica Ampla
5.
Cureus ; 15(3): e36667, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37101999

RESUMO

We reported a dichorionic diamniotic placental twin (DD twin) with a family history of a congenital nephrotic syndrome of the Finnish type (CNF), of which the parent had heterozygous for the NPHS1 gene mutation. The DD twin was born at 36 weeks gestation, and their fused placenta weighed 1,340 g. Although the first-born child had heavy proteinuria and hypoalbuminemia and needed daily albumin replacement to manage severe edema, the second had only mild proteinuria after birth. Genetic testing performed 28 days after birth detected homozygous for the NPHS1 gene mutation in only the first-born child but not in the second, which resulted in performing invasive left nephrectomy and peritoneal dialysis (PD) to manage edema in the first. For DD twins with a family history of CNF, prenatal diagnosis of CNF may be difficult. Therefore, close postnatal clinical observation and early genetic testing are essential for the diagnosis of CNF.

6.
Int J Surg Case Rep ; 106: 108180, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37058807

RESUMO

INTRODUCTION AND IMPORTANCE: The treatment of multiple cancers requires multidisciplinary expertise. In this case, we experienced a multiple cancers case, sigmoid colon cancer and intrahepatic cholangiocarcinoma that required preoperative portal vein embolization (PVE). PVE is often approached by trans-hepatic percutaneous approach or via ileocecal vein (ICV) or veins of the small intestine. In this case, the patient was scheduled to undergo robot-assist surgery for sigmoid colon cancer, and it was planned that the inferior mesenteric vein (IMV) would be cut. PVE from the IMV was performed with hope to reduce complications. CASE PRESENTATION: This patient had intrahepatic cholangiocarcinoma and sigmoid colon cancer. A radical cure for intrahepatic cholangiocarcinoma was expected by left liver lobectomy. Because of concerns about postoperative liver failure, it was decided to perform PVE. PVE via IMV approach was performed simultaneously with robot-assisted surgery for sigmoid colon cancer. The patient was discharged without complications 12 days after surgery. CLINICAL DISCUSSION: PVE is a very important technique for massive hepatic resection. Percutaneous trans-hepatic approach has the potential to damage vessels, bile duct, normal liver. Venous approaches, including via ICV, have the potential to damage vessels. In this case, we performed PVE from the IMV because we thought this approach would reduce the risk of complications. The patient successfully underwent PVE without complications. CONCLUSION: PVE via IMV was successfully performed without complications. In multiple cancers case, this approach would be better approach than any other PVE approach like this case.

7.
Ann Med Surg (Lond) ; 85(3): 514-518, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36923741

RESUMO

Compression of the celiac artery (CA) associated with median arcuate ligament compression syndrome can result in aneurysms at the pancreaticoduodenal arcade. If the aneurysm ruptures, treatment with interventional radiology (IVR) is recommended. Subsequently, the median arcuate ligament (MAL) should be incised to prevent the recurrence of the aneurysm. Retroperitoneal endoscopic MAL incision reduces the risk of adhesive bowel obstruction. However, there is few surgical landmark for retroperitoneal MAL incision. We used IVR to detect CA for MAL incision. Case Presentation: A 44-year-old man presented to our hospital with complaints of abdominal pain and clouding of consciousness. Contrast-enhanced computed tomography of the abdomen showed contrast leakage from pancreaticoduodenal artery aneurysm, and the CA was compressed by MAL, leading to the diagnosis of pancreaticoduodenal artery aneurysm rupture associated with median arcuate ligament compression syndrome. IVR was performed to block the blood flow to the aneurysm. After 2 months from life-saving IVR, we performed retroperitoneal endoscopic MAL incision with IVR. The patient was discharged 8 days after surgery. Echocardiography and contrast-enhanced computed tomography 2 months after discharge confirmed that the compression and flow of the CA had improved. Clinical Discussion: In retroperitoneal endoscopic MAL incision, there has been few landmark to identify MAL and CA. Retroperitoneal procedure with IVR can identify MAL easily. This is a useful technique, and it is important to accumulate more cases to standardize the technique. Conclusion: Retroperitoneal endoscopic MAL incision with IVR has not been reported, this procedure can make it easier to detect MAL.

8.
Front Artif Intell ; 6: 1039438, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36776421

RESUMO

The discovery of hidden laws in data is the core challenge in many fields, from the natural sciences to the social sciences. However, this task has historically relied on human intuition and experience in many areas, including psychology. Therefore, discovering laws using artificial intelligence (AI) has two significant advantages. First, it makes it possible to detect laws that humans cannot discover. Second, it will help construct more accurate theories. An AI called AI-Feynman was released in a very different field, and it performed impressively. Although AI-Feynman was initially designed to discover laws in physics, it can also work well in psychology. This research aims to examine whether AI-Feynman can be a new data analysis method for inter-temporal choice experiments by testing whether it can discover the hyperbolic discount model as a discount function. An inter-temporal choice experiment was conducted to accomplish these objectives, and the data were input into AI-Feynman. As a result, seven discount function candidates were proposed by AI-Feynman. One candidate was the hyperbolic discount model, which is currently considered the most accurate. The three functions of the root-mean-squared errors were superior to the hyperbolic discount model. Moreover, one of the three candidates was more "hyperbolic" than the standard hyperbolic discount function. These results indicate two things. One is that AI-Feynman can be a new data analysis method for inter-temporal choice experiments. The other is that AI-Feynman can discover discount functions that humans cannot find.

9.
Int J Surg Case Rep ; 102: 107821, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36471717

RESUMO

Introduction: With the global pandemic of COVID-19 for over two years, we might have to proceed surgical operation of patients with COVID-19 infection because of its emergency. Here we present a case who received an emergency operation for an irreducible inguinal hernia with COVID-19. We safely performed trans-abdominal pre-peritoneal repair (TAPP) in one surgery without any problems. Presentation of case: 52-year-old male with no specific past medical history came to the emergency department with complaints of right inguinal bulging and abdominal pain. On physical examination, a bulge in the right inguinal region was observed, so a right irreducible inguinal hernia was suspected. Since he had fever, we conducted a COVID-19 antigen test and it was positive. Because we could not return with manually, we decided to perform emergency surgery with appropriate infection control techniques. After laparoscopic return of the intestinal tract, a mesh was implanted using TAPP. The patient was discharged 2 days after surgery. Discussion: Even in pandemic of COVID-19, cases of irreducible inguinal hernia could be occur. COVID-19 has systemic inflammation, so we worried about mesh infection. But this patient took TAPP safely in emergency surgery with COVID-19. Conclusion: We experienced a case of TAPP proceeded patient with COVID-19. We considered that placement of a foreign material is acceptable when it is necessary in COVID-19 patient safely.

10.
Gan To Kagaku Ryoho ; 50(13): 1950-1952, 2023 Dec.
Artigo em Japonês | MEDLINE | ID: mdl-38303261

RESUMO

The patient was an 81-year-old man. After a liver posterior segmentectomy for hepatocellular carcinoma, a painful bulge was observed in the left anterior thoracic region during a routine outpatient visit. Elevated tumor markers and contrast- enhanced CT scan revealed a mass with contrast effect in the left 7th rib. Ultrasound-guided biopsy revealed hepatocellular carcinoma metastatic to the left 7th rib. There were no other obvious metastases, and the diagnosis of a single bone metastasis was made. The patient did not request chemotherapy and underwent transcatheter arterial chemoembolization 4 times. The patient did not show any improvement in tumor markers or shrinkage of the tumor, and his quality of life was deteriorated due to increased pain. The patient underwent left chest wall tumor resection and chest wall reconstruction. Postoperative tumor markers were normalized and pain improved markedly. We report a case of postoperative recurrence- free survival for 2 years.


Assuntos
Carcinoma Hepatocelular , Quimioembolização Terapêutica , Neoplasias Hepáticas , Masculino , Humanos , Idoso de 80 Anos ou mais , Carcinoma Hepatocelular/cirurgia , Carcinoma Hepatocelular/patologia , Neoplasias Hepáticas/cirurgia , Neoplasias Hepáticas/patologia , Qualidade de Vida , Costelas/cirurgia , Costelas/patologia , Biomarcadores Tumorais , Dor
11.
Am J Surg ; 224(5): 1289-1294, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-35781376

RESUMO

BACKGROUND: There is no consensus amongst comparative studies about the advantages of robotic over laparoscopic surgeries for gastric cancer (GC). We compared invasiveness and lymph node dissection between robotic and laparoscopic gastrectomies (RG and LG). METHODS: We retrospectively reviewed the medical records of 215 consecutive patients with GC who underwent RG or LG with lymphadenectomy from January 2011-December 2020. Propensity score matching analysis was performed to control selection bias. RESULTS: The RG group had less operative blood loss (P = 0.0005) and higher C-reactive protein levels on postoperative day 1 (P = 0.0006) than the LG group. When analyzing the specific sites of dissected lymph nodes, station groups of supra-pancreatic and lesser curvature areas accounted for this difference (P = 0.0073 and 0.0362, respectively). CONCLUSIONS: RG demonstrated lesser intraoperative bleeding, less of a postoperative inflammatory response, and a higher proportion of lymph node removal than LG, suggesting that it is a better surgical and oncological procedure.


Assuntos
Laparoscopia , Procedimentos Cirúrgicos Robóticos , Neoplasias Gástricas , Humanos , Estudos Retrospectivos , Procedimentos Cirúrgicos Robóticos/métodos , Pontuação de Propensão , Resultado do Tratamento , Gastrectomia/métodos , Laparoscopia/métodos , Excisão de Linfonodo/métodos , Neoplasias Gástricas/cirurgia , Neoplasias Gástricas/patologia , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/cirurgia
12.
In Vivo ; 36(4): 1977-1981, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35738594

RESUMO

BACKGROUND/AIM: COVID-19 has been a global pandemic for more than 2 years, and vaccination against COVID-19 using an mRNA vaccine is widespread. The COVID-19 vaccination can cause specific side-effects, such as axillary lymph node swelling; therefore, breast oncologists should pay attention to such occurrences. Initially, only two COVID-19 vaccinations were planned; however, in some countries third or fourth vaccines have been administered. Here, we present a female case who developed axillary lymph node swelling after her third vaccination. We have also reviewed the literature regarding this side-effect after a third or fourth COVID-19 vaccination. CASE REPORT: A 64-year-old woman who came to our clinic regarding a mammography abnormality in her left breast. She had no palpable mass, but a left breast mass was shown by mammography, and ultrasonography and magnetic resonance imaging indicated a hamartoma. At 2 months after her second COVID-19 vaccination when she underwent these tests, she had no axillary lymph node swelling. We planned a follow-up after 6 months. At her next visit, by chance, she underwent ultrasonography 14 days after she received a third COVID-19 vaccination, and a swollen axillary lymph node was observed. CONCLUSION: Axillary lymph node swelling can occur after a third COVID-19 vaccination. Therefore, breast oncologists will have to consider this side-effect of COVID-19 vaccination when diagnosing breast tumors.


Assuntos
Neoplasias da Mama , COVID-19 , Axila/patologia , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/patologia , COVID-19/prevenção & controle , Vacinas contra COVID-19/efeitos adversos , Feminino , Humanos , Japão , Linfonodos/patologia , Metástase Linfática/patologia , Pessoa de Meia-Idade , Vacinação/efeitos adversos , Vacinas Sintéticas , Vacinas de mRNA
13.
In Vivo ; 36(3): 1333-1336, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35478125

RESUMO

BACKGROUND/AIM: COVID-19 vaccination is now performed in most of the world to limit the spread of the disease. The first mRNA vaccine was approved in clinical settings and has specific side effects including axillary lymph node swelling, which can be misdiagnosed as breast cancer metastasis. The timing of axillary lymph node swelling and its duration are unclear. Here, we present a Japanese case and review of the existing literature. CASE REPORT: We report the case of a 67-year-old woman with breast calcification. She had regular follow ups in our hospital for this calcification and received ultrasonography of the breast and axilla at every visit. She visited 6 months before having her COVID-19 vaccination, and 7 days and 6 months after the first COVID-19 vaccination. She had a swollen axillary lymph node 7 days after the first vaccination, which although it was improved, remained for 6 months. CONCLUSION: Axillary lymph node swelling occurred 7 days after vaccination and remained up to 6 months after it.


Assuntos
Neoplasias da Mama , COVID-19 , Segunda Neoplasia Primária , Idoso , Neoplasias da Mama/patologia , Vacinas contra COVID-19/efeitos adversos , Feminino , Humanos , Japão , Linfonodos/patologia , Metástase Linfática/patologia , Segunda Neoplasia Primária/patologia , Vacinação/efeitos adversos , Vacinas Sintéticas , Vacinas de mRNA
14.
Cureus ; 14(2): e22184, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35308765

RESUMO

An 85-year-old man underwent thoracic endovascular aortic repair (TEVAR) for a thoracic aortic aneurysm (TAA). The day after TEVAR, the patient complained of abdominal pain. Blood tests showed lactic acidosis. Contrast-enhanced CT of the abdomen showed emphysema and poor contrast areas in the lower esophagus, total stomach, and duodenum. The left lobe of the liver also showed a poorly contrasted area. Indocyanine green (ICG) intraoperative blood flow evaluation was performed by laparoscopy to evaluate how organ ischemia is and whether resection of necrotic organs is possible. It was judged that resection of the poor perfusion area would not improve prognosis because of the extensive area of poor perfusion in the ICG intraoperative perfusion evaluation. In TEVAR for TAA, embolization of the celiac artery (CA) can be performed if collateral blood flow is demonstrated. However, in this case, extensive organ necrosis happened. We discuss the cause of this case and the usefulness of ICG intraoperative blood flow assessment when ischemia is suspected.

15.
In Vivo ; 36(2): 1041-1046, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35241569

RESUMO

BACKGROUND/AIM: COVID-19 started to spread as a pandemic in December 2019 and COVID-19 vaccination has been initiated worldwide. The efficacy of vaccination has been scientifically proven, but it might cause axillary lymph node swelling. To diagnose patients with axillary lymph node swelling caused by COVID-19 vaccination, we herein reviewed existing literature on this symptom. CASE REPORT: We report the case of a 70-year-old woman with a breast tumour. She had undergone cecum cancer surgery and regular computed tomography (CT). During breast tumour follow-up, she received scheduled CT that indicated severe axillary lymph node swelling mimicking breast cancer metastasis. We performed aspiration biopsy cytology of that lymph node, and determined this was not cancer metastasis but an effect of the COVID-19 vaccine. We confirmed this diagnosis at one month after computed tomography showed that the lymph node swelling had improved. CONCLUSION: Axillary lymph node swelling can occur after COVID-19 vaccination. Therefore, it is important to consider the effect of the COVID-19 vaccination on axillary lymph node swelling when diagnosing breast tumours.


Assuntos
Neoplasias da Mama , COVID-19 , Idoso , Axila/patologia , Neoplasias da Mama/patologia , Vacinas contra COVID-19/efeitos adversos , Feminino , Humanos , Japão , Linfonodos/patologia , Metástase Linfática/patologia , SARS-CoV-2 , Biópsia de Linfonodo Sentinela , Vacinação
16.
Eur J Surg Oncol ; 48(1): 177-182, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34034940

RESUMO

BACKGROUND: Cancer cells in intraoperative peritoneal washings (PW) indicate increased peritoneal recurrence. Detection of CEA or CK20 genes indicates poor prognosis. We assessed long-term prognosis of patients with amplification of cancer-related genes in PW obtained intraoperatively during curative gastric cancer surgery. METHODS: PW was collected before and immediately after curative gastrectomy. CEA, CK20, TFF1, MUC2, and FABP1-mRNA were selected as marker genes for reverse transcription polymerase chain reaction. Peritoneal recurrence-free survival (PRFS) and overall survival (OS) after >7-year follow-up were examined using the Kaplan-Meier method. RESULTS: Of 138 patients who underwent gastrectomy with negative cytological findings at laparotomy, 80 patients showed negative cancer-related gene amplification in preoperative PW. Fifty-eight patients were excluded due to positive gene amplification, which suggested presence of preoperative peritoneal cancer cells. The 80 patients had mRNA amplification in PW after surgery. Amplification of multiple and single cancer-related marker genes was observed in 38 and 21 patients; 21 cases had marker-negative results. Five-year PRFS was 69.1%, 95.2%, and 100% in multi-marker-positive, single marker-positive, and marker-negative cases, respectively. Multi-marker-positive patients had significantly worse PRFS than the other groups (p < 0.05). Multivariate analysis in the Cox proportional hazards model identified multi-marker-positivity as an independent prognostic factor for PRFS (hazard ratio, 7.6; 95% confidence interval, 1.07-62.63; p = 0.046), and multi-marker-positive patients had significantly worse OS than other groups (p < 0.01). CONCLUSION: Multi-marker cancer-related gene amplification in PW is associated with worse prognosis in PRFS and OS even after a long follow-up; PRFS can be stratified by the number of genes amplified.


Assuntos
Carcinoma/cirurgia , Gastrectomia , Lavagem Peritoneal , Neoplasias Peritoneais/secundário , Neoplasias Gástricas/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Antígeno Carcinoembrionário/genética , Carcinoma/genética , Carcinoma/patologia , Carcinoma/secundário , Intervalo Livre de Doença , Proteínas de Ligação a Ácido Graxo/genética , Feminino , Humanos , Queratina-20/genética , Masculino , Pessoa de Meia-Idade , Mucina-2/genética , Prognóstico , Modelos de Riscos Proporcionais , RNA Mensageiro/metabolismo , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Neoplasias Gástricas/genética , Neoplasias Gástricas/patologia , Transcriptoma , Fator Trefoil-1/genética
17.
J Med Genet ; 59(9): 865-877, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34815299

RESUMO

BACKGROUND: Musculocontractural Ehlers-Danlos syndrome is caused by biallelic loss-of-function variants in CHST14 (mcEDS-CHST14) or DSE (mcEDS-DSE). Although 48 patients in 33 families with mcEDS-CHST14 have been reported, the spectrum of pathogenic variants, accurate prevalence of various manifestations and detailed natural history have not been systematically investigated. METHODS: We collected detailed and comprehensive clinical and molecular information regarding previously reported and newly identified patients with mcEDS-CHST14 through international collaborations. RESULTS: Sixty-six patients in 48 families (33 males/females; 0-59 years), including 18 newly reported patients, were evaluated. Japanese was the predominant ethnicity (27 families), associated with three recurrent variants. No apparent genotype-phenotype correlation was noted. Specific craniofacial (large fontanelle with delayed closure, downslanting palpebral fissures and hypertelorism), skeletal (characteristic finger morphologies, joint hypermobility, multiple congenital contractures, progressive talipes deformities and recurrent joint dislocation), cutaneous (hyperextensibility, fine/acrogeria-like/wrinkling palmar creases and bruisability) and ocular (refractive errors) features were observed in most patients (>90%). Large subcutaneous haematomas, constipation, cryptorchidism, hypotonia and motor developmental delay were also common (>80%). Median ages at the initial episode of dislocation or large subcutaneous haematoma were both 6 years. Nine patients died; their median age was 12 years. Several features, including joint and skin characteristics (hypermobility/extensibility and fragility), were significantly more frequent in patients with mcEDS-CHST14 than in eight reported patients with mcEDS-DSE. CONCLUSION: This first international collaborative study of mcEDS-CHST14 demonstrated that the subtype represents a multisystem disorder with unique set of clinical phenotypes consisting of multiple malformations and progressive fragility-related manifestations; these require lifelong, multidisciplinary healthcare approaches.


Assuntos
Anormalidades Múltiplas , Síndrome de Ehlers-Danlos , Anormalidades Múltiplas/genética , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/genética , Feminino , Estudos de Associação Genética , Humanos , Masculino , Fenótipo , Sulfotransferases/genética
18.
Int J Surg Case Rep ; 88: 106557, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34741859

RESUMO

INTRODUCTION: We report a case of a patient who underwent laparoscopic surgery for intestinal obstruction caused by the mesodiverticular band of Meckel's diverticulum, with pathological specimens showing ectopic pancreas. PRESENTATION OF CASE: A 56-year-old woman presented to our hospital with complaints of abdominal pain and vomiting. Upon close examination, we suspected strangulated intestinal obstruction, and performed an emergency surgery. An internal hernia with a band leading to a Meckel's diverticulum was noted. Focusing on the attachment of the band, leading to the Meckel's diverticulum, we suspected a mesodiverticular band and deemed it necessary to be resected. Surgery was completed with resection of the band to relieve the intestinal obstruction, with simultaneous resection of the Meckel's diverticulum. It was necessary to resect Meckel's diverticulum simultaneously for histopathological examination. Histopathological examination revealed a mesodiverticular band in the resected band and ectopic pancreas in the Meckel's diverticulum. DISCUSSION: We chose to perform a complete laparoscopic resection because of the presence of simple intestinal obstruction caused by mesodiverticular bands or diverticula. We believe that small laparotomy can be opted in less severe cases, regardless of laparoscopic completion. CONCLUSION: We suspected adherent bowel obstruction and detected a band. We focused on band attachment and determined that the band should be resected if it was attached to Meckel's diverticulum. The resection method should be carefully selected, and the specimen should be histopathalogically examined.

19.
G3 (Bethesda) ; 11(4)2021 04 15.
Artigo em Inglês | MEDLINE | ID: mdl-33617628

RESUMO

Controllable and reversible transcriptional repression is an essential method to study gene functions. A systematic knock-down method using catalytically inactive Cas9 (dCas9) was originally established in bacteria. dCas9 forms a ribonucleoprotein with a small guide RNA and uses it to recognize a specific DNA sequence via Watson-Crick base-pairing. When specifically bound to a targeted DNA, dCas9 impairs RNA polymerase activity and represses transcription of that target gene. This technology, CRISPRi, has been implemented in several organisms, but not in Schizosaccharomyces pombe using dCas9. Here, we provide a plasmid that expresses dCas9 and sgRNA in fission yeast. With this plasmid, CRISPRi repressed endogenous gene transcription by as much as 87%. This transcriptional repression method is controllable, reversible, and efficient enough to alter cellular phenotypes. Here, we offer a CRISPRi method to choose proper targeting sequences for transcriptional repression in fission yeast. Implementation of CRISPRi will help to reveal gene functions and to develop tools based on dCas9 technology in S. pombe.


Assuntos
Sistemas CRISPR-Cas , Schizosaccharomyces , Sistemas CRISPR-Cas/genética , Expressão Gênica , Plasmídeos , RNA Guia de Cinetoplastídeos/genética , Schizosaccharomyces/genética
20.
Cancer Diagn Progn ; 1(5): 423-425, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-35403168

RESUMO

Background/Aim: Breast cancer treatment mainly involves interventional methods such as surgical resection and chemotherapy. How to best perform these treatments during the COVID-19 pandemic remains to be established. Patients and Methods: Patients with breast cancer who received SARS-CoV-2 PCR screening before cancer treatment from December 2020 to April 2021 were included. PCR screening was performed within 72 hours of the scheduled admission time and treatment. Results: A total of 19 tests in 15 patients were analysed. Fourteen cases displayed no symptoms, and five cases had some symptoms. COVID PCR tests were negative in all cases. Conclusion: COVID-19 screening can ensure that breast cancer patients do not miss scheduled treatments as a result of the pandemic. Diagnosis of patients with symptoms that are shared by COVID-19 infection, chemotherapy, and breast cancer recurrence must be performed carefully.

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