Novel pathogenic variants in an Indian cohort with epidermolysis bullosa: Expanding the genotypic spectrum

BackgroundEpidermolysis bullosa (EB) is a genodermatosis characterized by skin fragility and blisters with variable severity. Patients with Dystrophic EB (DEB) or Junctional EB (JEB) mainly present to clinic due to greater functional impairment. Pathogenic sequence variations in COL7A1 are implicated in DEB.ObjectiveWe have tried to decipher the molecular spectrum and genotype phenotype correlation of 21 Indian patients with EB.MethodsNext generation sequencing (NGS) was performed to determine the pathogenic variants. Sanger sequencing was also done for validation of the variants in eleven individuals.ResultsPathogenic variants were detected in 20 individuals (diagnostic yield of 95%). Majority of them (90%) had sequence variation in COL7A1 while two had pathogenic variants in ITGB4 and KRT14 respectively. Out of the 18 patients confirmed to have DEB, 3 had Dominant DEB (DDEB) whereas 15 patients had Recessive DEB (RDEB). Amongst 23 sequence variations identified, 12 were found to be novel (3 were missense, 5 were premature termination codon variants while 4 were splice-site changes).ConclusionGenotype phenotype correlation was noted with milder manifestations in those with dominant inheritance types. Exact molecular diagnosis can be ascertained by NGS in majority of cases.     

脾脏血管性病变与淋巴瘤CT鉴别诊断

目的 运用CT区分脾脏血管性病变与淋巴瘤。方法 回顾性分析20例经手术、穿刺病理学检查证实的脾脏病变的发病年龄、性别、脾脏指数、病变大小、数目、有无液化、钙化、强化幅度、强化方式等特征,并进行统计学分析。结果 20例脾脏病变中,11例血管性病变(6例海绵状血管瘤,3例窦岸细胞血管瘤,2例硬化性血管瘤样结节性转化),9例淋巴瘤;两组间发病年龄、病变大小、数目、有无液化、钙化等差异无统计学意义;两组间脾脏指数、动脉期强化幅度差异具有统计学意义(P＜0.05)。5例海绵状血管瘤呈不均匀性强化,1例呈渐进性填充式强化,2例窦岸细胞血管瘤呈“雀斑征”,1例硬化性血管瘤样结节性转化呈“辐轮征”;9例淋巴瘤实质部分均呈均匀、轻中度强化。结论 脾脏血管性病变与淋巴瘤CT表现不同,CT有助于明确诊断。     

Robust antibody response after a third BNT162b2 vaccine compared to the second among immunocompromised and healthy individuals,a prospective longitudinal cohort study

PurposeAs protection from COVID-19 following two doses of the BNT162b2 vaccine showed a time dependent waning, a third (booster) dose was administrated. This study aims to compare the antibody response following the third dose versus the second and to evaluate post-booster seroconversion.MethodsA prospective observational study conducted in Maccabi Healthcare Services. Serial SARS-CoV-2 Spike IgG tests, 1,2,3 and 6 months following the second vaccine dose and one month following the third were obtained. Neutralizing antibody levels were measured in a subset of participants. Per individual SARS-CoV-2 Spike IgG titer ratios were calculated one month after the booster administration compared to titers one month following the second dose and prior to booster.ResultsAmong 110 participants, 56 (51%) were women. Mean age was 61.7 ± 1.9 years and 66 (60%) were immunocompromised. One month after third dose, IgG titers were induced 7.83 (95 %CI 5.25–11.67) folds and 2.40 (95 %CI 1.90–3.03) folds compared to one month after the second, in the immunocompromised and immunocompetent groups, respectively. Of the 17 immunocompromised participants who were seronegative after the second dose, 4 (24%) became seropositive following the third. Comparing the titers prior to the third dose, an increase of 50.7 (95 %CI 32.5–79.1) fold in the immunocompromised group and 25.7 (95 %CI 19.1–34.7) fold in and immunocompetent group, was observed.ConclusionA third BNT162b2 vaccine elicited robust humoral response, superior to the response observed following the second, among immunocompetent and immunocompromised individuals.     

Diagnosing pulmonary thromboembolism: Concerns and controversies

Pulmonary thromboembolism (PTE) is an important cause of mortality/morbidity even today despite advancement in clinical understanding as well as diagnostic facilities. Clinical diagnosis of PTE is often challenging because of nonspecific sign/symptoms. Adherence to clinical decision-making protocols and appropriate use of diagnostic modalities like computed tomography pulmonary angiography can resolve the diagnostic dilemma in most cases and help in the overall management of PTE. This article deals with various concerns as well as controversies surrounding accurate diagnosis of PTE as on date.     

Abdominal lymph node recurrence from colorectal cancer: Resection should be considered as a curative treatment in patients with controlled disease

BackgroundLymph node recurrences (LNR) from colorectal cancer (CRC) still represent a therapeutic challenge, as standardized recommendations have yet to be established. The aim of this study was to analyze short- and long-term oncological outcomes following resection of LNR from CRC.MethodsAll patients with previously resected CRC who underwent histopathologically confirmed LNR resection in 3 tertiary referral centers between 2010 and 2017 were reviewed. Short- and long-term outcomes were analyzed, mainly recurrence-free and overall survival. Further recurrences following LNR resection were also analyzed.ResultsOverall, 18 patients were included. Primary CRC was left-sided in 16 (89%) patients, staged T3-4 in 15 (83%), N+ in 14 (78%) and presented with synchronous metastases in 8 (43%). Median time interval between primary CRC and LNR resections was 31 months. Performed lymphadenectomies were aortocaval (n = 10), pelvic (n = 7), in hepatic pedicle (n = 3) and mesenteric (n = 1). Four patients had associated liver metastases resection. Three (17%) presented with postoperative complications, of which one Clavien-Dindo 3. Fourteen (78%) patients presented with further recurrences after a mean delay of 9 months, with 36% of patients presenting with early (<6 months) recurrence. Five (36%) patients could undergo secondary recurrence resection and 3 (21%) patients radiotherapy. Median overall survival following LNR resection reached 44 months.ConclusionsCurrent results suggest that LNR resection is feasible and associated with improved survival, in selected patients. Longer time interval between primary CRC resection and LNR occurrence appeared to be a favorable prognostic factor whereas multisite recurrence appeared to be associated with impaired long-term survival.     

Outcomes after neoadjuvant or adjuvant chemotherapy for cT2-4N0-1 non–small cell lung cancer: A propensity-matched analysis

Objective

Comparative survival between neoadjuvant chemotherapy and adjuvant chemotherapy for patients with cT2-4N0-1M0 non–small cell lung cancer has not been extensively studied.

CT与MRI对脑梗死后出血性转变的诊断价值

目的探讨CT与MRI在脑梗死后出血性转变(HT)中的诊断价值。方法对2011-01—2014-04我院收治的45例HT患者的临床资料进行回顾性分析,对CT与MRI的检查结果进行对比。结果45例患者中,脑内血肿34例(75.6%),脑梗死病灶内片状、斑点状或条状出血11例(24.4%)。其中大面积脑梗死继发出血24例(53.3%),中等面积继发出血15例(33.3%),小面积脑梗死继发出血6例(13.3%);CT检出HT 10例(22.2%),MRI检出45例(100%),差异有统计学意义(P0.05);在对不同部位的HT检查中,CT检出幕上出血9例(20.0%),幕下出血1例(2.2%);MRI检出幕上出血39例(86.7%),幕下出血6例(13.3%)。MRI对幕上及幕下出血的检出率均优于CT(P0.05)。结论在HT的诊断中,MRI比CT更加准确和敏感,在判断出血时间、指导临床治疗以及预后判断中具有重要意义。     

Limited benefit of CT scans in tuberculosis contact tracing

ObjectiveThe detection of abnormal findings on computed tomography (CT) scans of tuberculosis contacts combined with normal plain radiographs contributes to the early detection of tuberculosis. However, the benefit of the early detection of abnormalities for the prevention of active tuberculosis during follow-up requires evaluation.MethodWe conducted retrospective comparison of the existence of CT scans of tuberculosis contacts without findings of active tuberculosis on plain radiographs at a hospital in Japan. Results: Among 243 contacts without CT scans, five developed tuberculosis during follow-up. Among 229 contacts with CT scans, 24 were judged as targets of multi-drug therapy since their CT findings were suggestive of active tuberculosis at the time of the CT screening. Among 205 contacts judged as having latent tuberculous infection with CT screening, three developed tuberculosis diseases during follow-up. Conclusion: CT scans detected abnormal findings among contacts without abnormalities of plain radiographs but there were some contacts that developed tuberculosis diseases among those with contact investigation including CT scan. The value of CT is equivocal considering the balance of true treatment, overtreatment and harm of radiation.     

Clinical Study on CT-guided Modified Akupotomye in the Treatment of Lumbar Nerve Posterior Branch Compression

Objective: To observe the clinical effect of modified akupotomye closed lysis under CT guidance on compression of posterior lumbar nerve branch.Methods: Patients were diagnosed by HRCT 3-D reconstruction combined with clinical symptoms and signs.After HRCT three-dimensional reconstruction combined with clinical symptoms and signs, the patients were confirmed as posterior lumbar nerve compression.After CT accurate surface positioning, CT-guided modified akupotomye was used for closed lysis of the posterior lumbar nerve branch.Oswestry Dysfunction Index Questionnaire(ODI) was used for quantitative scoring, 7 days before and after treatment and 6 months after treatment.Results: In 62 cases, 20 cases were cured, with 25 cases markedly effective, 11 cases effective, and 36 cases ineffective.The total effective rate was 90.3%.ODI score: Self-paired t test 7 days before after treatment, P < 0.01;Before treatment and 6 months after treatment, self-paired t test(P < 0.01);Self-paired t-test was performed 7 days after treatment and 6 months after treatment(P > 0.05).Conclusion: With CT precise positioning, the modified akupotomye can be used to do closed lysis, to relieve the adhesion and compression, so that the low back pain can be relieved, with good clinical.The akupotomye closed lysis, combined with modern imaging technology has not only achieved good clinical effect, but also can improve the accuracy, safety and scientificity of akupotomye treatment.