Quantitative detection of macular microvascular abnormalities identified by optical coherence tomography angiography in different hematological diseases.

It is now understood that hematological diseases can have detrimental effects on the retina, reducing retinal capillaries, compromising visual function, and potentially causing irreversible visual impairment. Over the years, there has been limited research on macular microvascular abnormalities, such as changes in vessel density and the foveal avascular zone (FAZ) and variations in the severity of these effects across different types of blood disorders. This study aims to quantitatively assess the impact of various hematological disorders on the retina using optical coherence tomography angiography (OCTA). Compared with healthy eyes, patients with different blood diseases exhibited reductions in linear vessel density (LVD), perfusion vessel density (PVD), FAZ area, and FAZ perimeter. Notably, patients with erythrocyte diseases showed more significant abnormalities in LVD and PVD, while patients with lymphocytic diseases demonstrated more pronounced abnormalities in the FAZ area and perimeter. OCTA imaging could potentially reflect changes of the retinal microvascular of patients with hematological diseases and may serve as a valuable tool for distinguishing abnormalities affecting different blood cell lines. This approach offers a novel avenue for assessing, treating, and monitoring blood disorders.

Dose-Volume Parameters of Spared Magnetic Resonance Imaging-Defined Active Bone Marrow Predict Hematologic Toxicity in Pelvic Malignancies Patients Undergoing Radiotherapy: A Cohort Study.

Background: The objective of this investigation is to evaluate the superiority of dose-volume parameters relying on magnetic resonance imaging (MRI)-defined active bone marrow (ABM) over those based on total bone marrow (TBM) contoured via CT in the prediction of hematologic toxicity (HT) occurrence among patients with pelvic malignancies undergoing radiotherapy. Methods: The clinical data of 116 patients with pelvic malignancies treated with pelvic radiotherapy were analyzed retrospectively. The ABM areas on T1-weighted MRI were contoured. The statistical significance between TBM and ABM dose-volume measures was assessed through the utilization of either Student's t-test or Wilcoxon signed rank test. Logistic and linear regression models were employed to analyze the correlation between dose-volume parameters (V5-V50) and HT occurrence in pelvic ABM and TBM. Receiver operating characteristic (ROC) curves were used to compare predictors of HT2+. Results: There were significant differences in dosimetric parameters between ABM and TBM. Logistic regression analysis showed that ABM V5, ABM V10, ABM V15, ABM V20, and TBM V5 were significantly associated with the occurrence of HT2+ in pelvic malignancies. Linear regression analysis showed that ABM V5, ABM V10, and ABM V15 were significantly associated with white blood cell (WBC), absolute neutrophil count (ANC), hemoglobin (Hb), and lymphocyte (Lym) nadir. ABM V5, ABM V10, ABM V15, and ABM V30 were predictive of HT2+. Conclusions: More accurate prediction of HT in patients receiving pelvic radiotherapy may be achieved by relying on dose-volume parameters of MRI-based ABM. Further prospective studies are needed to confirm this.

Characterizing morphological alterations in blood related disorders through Atomic Force Microscopy.

Atomic Force Microscopy (AFM) is a very flexible method that can create topographical images from a range of materials and image surfaces. Significantly, AFM has emerged as an invaluable tool for dissecting the morphology and biochemical aspects of body cells and tissues. The high-resolution imaging capabilities of AFM enable researchers to discern alterations in cell morphology and understand the underlying mechanisms of diseases. It contributes to understanding disease etiology and progression. In the context of this review, our focus will be directed towards elucidating the pivotal role of AFM in analysis of blood related disorders. Through detailed comparisons with normal cells, we delve into the alterations in size, shape, and surface characteristics induced by conditions such as cancer, diabetes, anaemia, and infections caused by pathogens. In essence, various work described in this article highlights to bridge the gap between traditional microscopy and in-depth analysis of blood-related pathologies, which in turn offers valuable perspectives for both research and clinical applications in the field.

SPECT/CT Image-Derived Absorbed Dose to Red Marrow Correlates with Hematologic Toxicity in Patients Treated with [177Lu]Lu-DOTATATE.

Hematologic toxicity, although often transient, is the most common limiting adverse effect during somatostatin peptide receptor radionuclide therapy. This study investigated the association between Monte Carlo-derived absorbed dose to the red marrow (RM) and hematologic toxicity in patients being treated for their neuroendocrine tumors. Methods: Twenty patients each receiving 4 treatment cycles of [177Lu]Lu-DOTATATE were included. Multiple-time-point 177Lu SPECT/CT imaging-based RM dosimetry was performed using an artificial intelligence-driven workflow to segment vertebral spongiosa within the field of view (FOV). This workflow was coupled with an in-house macroscale/microscale Monte Carlo code that incorporates a spongiosa microstructure model. Absorbed dose estimates to RM in lumbar and thoracic vertebrae within the FOV, considered as representations of the whole-body RM absorbed dose, were correlated with hematologic toxicity markers at about 8 wk after each cycle and at 3- and 6-mo follow-up after completion of all cycles. Results: The median of absorbed dose to RM in lumbar and thoracic vertebrae within the FOV (D median,vertebrae) ranged from 0.019 to 0.11 Gy/GBq. The median of cumulative absorbed dose across all 4 cycles was 1.3 Gy (range, 0.6-2.5 Gy). Hematologic toxicity was generally mild, with no grade 2 or higher toxicity for platelets, neutrophils, or hemoglobin. However, there was a decline in blood counts over time, with a fractional value relative to baseline at 6 mo of 74%, 97%, 57%, and 97%, for platelets, neutrophils, lymphocytes, and hemoglobin, respectively. Statistically significant correlations were found between a subset of hematologic toxicity markers and RM absorbed doses, both during treatment and at 3- and 6-mo follow-up. This included a correlation between the platelet count relative to baseline at 6-mo follow up: D median,vertebrae (r = -0.64, P = 0.015), D median,lumbar (r = -0.72, P = 0.0038), D median,thoracic (r = -0.58, P = 0.029), and D average,vertebrae (r = -0.66, P = 0.010), where D median,lumbar and D median,thoracic are median absorbed dose to the RM in the lumbar and thoracic vertebrae, respectively, within the FOV and D average,vertebrae is the mass-weighted average absorbed dose of all vertebrae. Conclusion: This study found a significant correlation between image-derived absorbed dose to the RM and hematologic toxicity, including a relative reduction of platelets at 6-mo follow up. These findings indicate that absorbed dose to the RM can potentially be used to understand and manage hematologic toxicity in peptide receptor radionuclide therapy.

Computer vision quantitation of erythrocyte shape abnormalities provides diagnostic, prognostic, and mechanistic insight.

Examination of red blood cell (RBC) morphology in peripheral blood smears can help diagnose hematologic diseases, even in resource-limited settings, but this analysis remains subjective and semiquantitative with low throughput. Prior attempts to develop automated tools have been hampered by their poor reproducibility and limited clinical validation. Here, we present a novel, open-source machine-learning approach (denoted as RBC-diff) to quantify abnormal RBCs in peripheral smear images and generate an RBC morphology differential. RBC-diff cell counts showed high accuracy for single-cell classification (mean AUC, 0.93) and quantitation across smears (mean R2, 0.76 compared with experts, interexperts R2, 0.75). RBC-diff counts were concordant with the clinical morphology grading for 300 000+ images and recovered the expected pathophysiologic signals in diverse clinical cohorts. Criteria using RBC-diff counts distinguished thrombotic thrombocytopenic purpura and hemolytic uremic syndrome from other thrombotic microangiopathies, providing greater specificity than clinical morphology grading (72% vs 41%; P < .001) while maintaining high sensitivity (94% to 100%). Elevated RBC-diff schistocyte counts were associated with increased 6-month all-cause mortality in a cohort of 58 950 inpatients (9.5% mortality for schist. >1%, vs 4.7% for schist; <0.5%; P < .001) after controlling for comorbidities, demographics, clinical morphology grading, and blood count indices. RBC-diff also enabled the estimation of single-cell volume-morphology distributions, providing insight into the influence of morphology on routine blood count measures. Our codebase and expert-annotated images are included here to spur further advancement. These results illustrate that computer vision can enable rapid and accurate quantitation of RBC morphology, which may provide value in both clinical and research contexts.

Efficacy and Safety of Endobronchial Ultrasonography with a Guide-sheath for Acute Pulmonary Lesions in Patients with Haematological Diseases.

Objective Acute pulmonary lesions (APLs), defined as an acute infiltrate or nodular lung field, are a major complication in patients with haematological diseases. Recently, endobronchial ultrasonography with a guide-sheath (EBUS-GS) was established as a useful technique for diagnosing pulmonary lesions. This study aimed to evaluate the efficacy and safety of EBUS-GS for managing APLs in patients with haematological diseases. Methods Our single-centre, retrospective, observational, single-arm, descriptive study enrolled 22 consecutive adult (>20-year-old) patients with haematological diseases and concomitant APL who underwent EBUS-GS between January 2011 and June 2016 at Kameda Medical Center, Chiba, Japan. The primary endpoint was the contribution of EBUS-GS to clinical decision-making. Secondary endpoints were an adequate tissue collection rate, diagnostic yield, complication rate, and 30-day mortality. Results The median patient age was 70 years old, and 63.6% were men. Acute myeloid leukaemia was the most frequent underlying disease, accounting for 54.5% of patients. The contribution of EBUS-GS to clinical decision-making was recognised in 11 (50.0%) patients. Adequate tissue collection was achieved in 21 (95.5%) patients. The aetiology of the APL was identified in 9 (40.9%) patients. No complications, including severe haemorrhaging and pneumothorax, were observed in any patients, and the 30-day mortality rate was 0%. Conclusion EBUS-GS may be a suitable diagnostic option for APL in patients with haematological diseases. Further larger-scale and randomised controlled trials are needed to confirm our results.

[Skeletal manifestations of systemic hematologic disorders]. / Skelettveränderungen bei hämatologischen Systemerkrankungen.

BACKGROUND: Bone marrow consists of connective tissue and stem cells, which generate blood cells. This includes erythropoiesis, leukopoiesis and thrombopoiesis. Thus, hematologic disorders first affect the bone marrow and secondarily the blood. METHODS: Bone marrow changes can be sensitively detected using magnetic resonance imaging (MRI) and often represent the initial manifestation of the underlying disease. With longer duration of disease, changes can also be found on X­ray or computed tomography (CT). RESULTS: The findings on MRI and X­ray/CT are often nonspecific and can only be interpreted in the context of clinical information. CONCLUSION: In the following article, we provide a brief overview of the clinical manifestations and imaging changes to be expected in leukemia, anemia, and chronic myeloproliferative disorders.

Imaging Characteristics of Invasive Pulmonary Fungal Infection Secondary to Hematological Diseases and Comparison before and after Treatment.

Fungal infections have become crucial factors that threaten the prognosis and survival of blood disease patients. Here, we aim to analyze the epidemiological characteristics and early and advanced CT (computed tomography) manifestations of patients with invasive pulmonary fungal infections secondary to blood system diseases. 65 hospitalized patients from October 2018 to October 2020 with invasive pulmonary fungal infections secondary to blood diseases were enrolled. Blood diseases were recorded according to clinical and imaging data, and the serum galactomannan test (GM test) was conducted. Two senior radiologists analyzed the CT data and recorded the distribution of the lesions and CT signs. We analyzed and counted the first chest CT scan images of patients with nodule/mass type secondary to hematological diseases and invasive pulmonary fungal infection. The first CT nodules or mass-type lesions were statistically significant in nodule size, the number of lesions, distribution, and accompanying signs. Pulmonary fungal infection was common in both lungs during 7-day, 14-day, and 30-day follow-up CT. We also found that the nodular mass type was the main manifestation in the positive group of the GM test. Both the positive group and the negative group had the highest incidence of nodules. The incidence of air crescent signs in nodules or mass lesions in the positive group was higher than in the negative group, and the difference was statistically significant. To conclude, follow-up CT signs after antifungal treatment were highly sensitive to the early diagnosis of hematological diseases and secondary invasive pulmonary Eumycetes infection, which could be used for clinical treatment to provide help. GM test results were also related to CT manifestations such as air crescent sign, cavity, and halo sign.

Neuroimaging in Kabuki syndrome and another KMT2D-related disorder.

Recognition of distinct phenotypic features is an important component of genetic diagnosis. Although CHARGE syndrome, Kabuki syndrome, and a recently delineated KMT2D Ex 38/39 allelic disorder exhibit significant overlap, differences on neuroimaging may help distinguish these conditions and guide genetic testing and variant interpretation. We present an infant clinically diagnosed with CHARGE syndrome but subsequently found to have a de novo missense variant in exon 38 of KMT2D, the gene implicated in both Kabuki syndrome and a distinct KMT2D allelic disorder. We compare her brain and inner ear morphology to a retrospective cohort of 21 patients with classic Kabuki syndrome and to typical CHARGE syndrome findings described in the literature. Thirteen of the 21 Kabuki syndrome patients had temporal bone imaging (5/13 CT, 12/13 MRI) and/or brain MRI (12/13) which revealed findings distinct from both CHARGE syndrome and the KMT2D allelic disorder. Our findings further elucidate the spectrum of inner ear dysmorphology distinguishing Kabuki syndrome and the KMT2D allelic disorder from CHARGE syndrome, suggesting that these three disorders may be differentiated at least in part by their inner ear anomalies.

Leukocyte segmentation in peripheral blood images using a novel edge strength cue-based location detection method.

The classification of leukocytes in peripheral blood images is an important milestone to be achieved because it can greatly assist pathologists to diagnose diseases such as leukemia, anemia, and other blood disorders. To a certain extent, a good segmentation method for identifying leukocytes from their background is the first step to the efficient functioning of the leukocytes classification system. However, the morphological structure of leukocytes, poor contrast, and the variations in their shape and size lead to the degradation of the segmentation accuracy. In this paper, we propose a new leukocyte segmentation framework that first locates and then segments leukocytes from peripheral blood images. Here, the locations of the leukocytes are first identified using a novel edge strength cue (ESc), and later, the Grabcut model is deployed to obtain the segmentation of the leukocytes. The novelty lies in the way the location of the leukocytes is detected, and this improves the leukocyte segmentation accuracy. The experimental evaluation is performed on ALL-IDB1, Cellavision, and LISC datasets for leukocyte segmentation based on the detection of the ESc location. Experimental results are evaluated using precision, recall, and F-score measures. The proposed method outperforms the state-of-the-art techniques. Additionally, the computation time of the proposed method is analyzed and presented in the study. Graphical Abstract Leukocytes Location Detection and Segmentation.

Clinical and imaging characteristics of hematologic disease complicated by air leak syndrome: A STROBE-compliment observational study.

There are limited systematic studies on hematologic disease complicated by air leak syndrome (ALS). Physicians in radiology departments and hematology departments have a limited awareness of ALS.The aim of this study was to explore the similarities and differences in clinical data between the clinical group and imaging group in patients with hematologic disease complicated by ALS.Clinical and CT data for 59 patients with hematologic disease complicated by ALS in our hospital were retrospectively reviewed. Patients were assessed by clinical grouping and image grouping. Data were compared between groups, and P < .05 was considered statistically significant.Dyspnea occurred more often in the allo-HSCT (allogeneic hematopoietic stem cell transplantation) group than that in the non-allo-HSCT group (68.8% vs 4.7%, P < .001), there were statistically significant differences in inducing factors between groups, and differences in other aspects were not statistically significant. Chest tightness and dyspnea occurred more often in the allo-HSCT with BO/BOOP (bronchiolitis Obliteran/bronchiolitis obliterans organizing pneumonia) group than those in the allo-HSCT without BO/BOOP group (80.0% vs 9.1%, P = .013), and differences in other aspects were not statistically significant. Chest pain occurred more often in the HPT (hydropneumothorax) group than that in the other 3 groups (pure pneumothorax [PT], pulmonary interstitial emphysema [PIE], complex ALS) (71.4% vs 11.1%, 0.0%, and 26.5%, P = .005); ALS thickness in the HPT group was greater than that in the other 2 groups (PIE and complex ALS) (19.7 vs 3.5 cm and 9.5 cm, P = .001); catheter drainage occurred more often in the HPT group than that in the other three groups (PT, PIE, complexALS) (64.3% vs 22.2%, 0.0%, and 2.9%, P = .001).ALS is a high risk in male patients who have a low BMI, have leukemia as a basic disease, and have basic lung diseases (eg, BO/BOOP). CT types are mainly complex ALS, HPT, and pure PT. In addition, clinical symptoms for patients in the HPT group are severe, and there is a high prevalence of catheter drainage.

Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.

Pathogenic variants in KMT2D, which encodes lysine specific methyltransferase 2D, cause autosomal dominant Kabuki syndrome, associated with distinctive dysmorphic features including arched eyebrows, long palpebral fissures with eversion of the lower lid, large protuberant ears, and fetal finger pads. Most disease-causing variants identified to date are putative loss-of-function alleles, although 15-20% of cases are attributed to missense variants. We describe here four patients (including one previously published patient) with de novo KMT2D missense variants and with shared but unusual clinical findings not typically seen in Kabuki syndrome, including athelia (absent nipples), choanal atresia, hypoparathyroidism, delayed or absent pubertal development, and extreme short stature. These individuals also lack the typical dysmorphic facial features found in Kabuki syndrome. Two of the four patients had severe interstitial lung disease. All of these variants cluster within a 40-amino-acid region of the protein that is located just N-terminal of an annotated coiled coil domain. These findings significantly expand the phenotypic spectrum of features associated with variants in KMT2D beyond those seen in Kabuki syndrome and suggest a possible new underlying disease mechanism for these patients.

Diagnostic Performance and Reliability of Non-Enhanced Imaging Characterization Quotients for the Differentiation of Infectious and Malignant Pulmonary Nodules in Hematological Patients Using 3T MRI.

PURPOSE: To evaluate the diagnostic performance and reliability of non-enhanced imaging characterization quotients (NICQs) derived from magnetic resonance imaging (MRI) in the differential diagnosis of pulmonary nodules in hematological patients. MATERIALS AND METHODS: A total of 83 lesions in 45 consecutive hematological patients were analyzed (10 bacterial pneumonias, 16 fungal pneumonias, 19 pulmonary lymphoma manifestations). The MRI protocol included T2-weighted single-shot fast spin echo (FSE) and T1-weighted gradient echo (GRE) sequences. T2-based T2-NICQmean and T2-NICQ90th were calculated from signal intensities measured in the lesion, muscle, and fat ((SILesion - SIMuscle)/(SIFat - SIMuscle) * 100), and simple T1-based T1-Qmean from signal intensities of the lesion and muscle (SILesion/SIMuscle). Images were read by one radiologist with > 7 years and one with 1 year of experience. For statistical evaluation the Kruskal-Wallis or Mann-Whitney U-test, receiver operating characteristic (ROC) analysis with calculation of areas under the curve (AUC), and intraclass correlation coefficients (ICCs) were used. RESULTS: Medians of T2-NICQs differed significantly when comparing infectious lesions and lymphoma manifestations in general (T2-NICQmean 20.33 vs. 10.14; T2-NICQ90th 34.96 vs. 25.52) or fungal lesions and lymphoma manifestations in particular (T2-NICQmean 19.00 vs. 10.14; T2-NICQ90th 34.49 vs. 25.25). The AUCs for T2-NICQs on the per-patient level ranged from 0.73 to 0.79. ICCs were at least > 0.85, except for intrarater testing of T2-NICQ90th (0.79). CONCLUSION: The overall diagnostic performance of T2-NICQs is adequate for differentiating infectious and fungal lesions from lymphoma manifestations. The results show good to excellent intra- and interrater agreement. We therefore consider NICQs helpful in the diagnostic workup of pulmonary nodules in hematological patients. KEY POINTS: · Non-enhanced Imaging Characterization Quotients provide a fast and pragmatic approach for assessing pulmonary lesions in hematological patients.. · The diagnostic performance of Non-enhanced Imaging Characterization Quotients is adequate for differentiating infectious and fungal infiltrates from lymphoma manifestations.. · Non-enhanced Imaging Characterization Quotients show good to excellent intra- and interrater agreement.. CITATION FORMAT: · Nagel SN, Kim D, Wylutzki T et al. Diagnostic Performance and Reliability of Non-Enhanced Imaging Characterization Quotients for the Differentiation of Infectious and Malignant Pulmonary Nodules in Hematological Patients Using 3T MRI. Fortschr Röntgenstr 2020; 192: 327 - 334.

Holoprosencephaly in Kabuki syndrome.

Kabuki syndrome is a rare, multi-systemic disorder of chromatin regulation due to mutations in either KMT2D or KDM6A that encode a H3K4 methyltransferase and an H3K27 demethylase, respectively. The associated clinical phenotype is a direct result of temporal and spatial changes in gene expression in various tissues including the brain. Although mild to moderate intellectual disability is frequently recognized in individuals with Kabuki syndrome, the identification of brain anomalies, mostly involving the hippocampus and related structures remains an exception. Recently, the first two cases with alobar holoprosencephaly and mutations in KMT2D have been reported in the medical literature. We identified a de novo, pathogenic KMT2D variant (c.6295C > T; p.R2099X) using trio whole-exome sequencing in a 2-year-old female with lobar holoprosencephaly, microcephaly and cranio-facial features of Kabuki syndrome. This report expands the spectrum of brain anomalies associated with Kabuki syndrome underscoring the important role of histone modification for early brain development.

Budd-Chiari syndrome - various etiologies and imagistic findings. A pictorial review.

Budd Chiari syndrome defines an obstruction of the hepatic venous outflow. Primary causes include pro-coagulant states resulting in venous thrombosis, while secondary Budd Chiari syndrome appears in conditions associated with extrinsic compression of the hepatic veins or tumor invasion. Clinical presentation is greatly varied, from incidentally discovered asymptomatic thrombosis to fulminant liver failure due to hepatic congestion. Abdominal ultrasonography is the key diagnostic tool of Budd Chiari syndrome. This pictorial essay aims to show the ultrasonographic aspect of Budd-Chiari syndrome associated with other medical conditions (abdominal malignancy, hematologic disorders and abdominal surgery).

A Randomized Trial of Ultrasound- versus. Fluoroscopy-Guided Subclavian Vein Catheterization in Children with Hematologic Disease.

OBJECTIVE: To compare the ultrasound- and fluoroscopy-guided subclavian vein catheterization in pediatric population with hematologic diseases. METHODS: A randomized prospective study of subclavian vein catheterization in pediatric population with hematologic diseases was performed. After randomization, the patients were assigned to either ultrasound- or fluoroscopy-guided subclavian vein catheterization. The primary outcome was number of attempts at venous cannulation. Secondary outcomes included: catheterization success rate, fluoroscopy time, operation time, and surgical complications. RESULTS: There were 170 children enrolled between February 2017 and July 2018. There was no difference between the two groups with regard to the demographic data. Success within 3 attempts was achieved in 82 cases (82/87, 92.0%) in the ultrasound (US) group vs. 65 cases (65/83, 78.3%) in the fluoroscopy group (P = 0.002). The average operation time was 10(7) min in US group vs. 10(6) min in fluoroscopy group (P = 0.722). There were 3 complications in the US group, while there were 6 complications in the fluoroscopy group (P = 0.321). There were 4 catheter-related thrombosis (CRTs) found in the US group during follow-up, however there was no CRT in the fluoroscopy group (P = 0.121). CONCLUSIONS: Ultrasound-guided venous puncture is a more accurate method of subclavian vein catheterization. However, the catheter tip can be placed more precisely by fluoroscopy. Thus, combined ultrasound-and fluoroscopy-guided technology is more efficient in subclavian vein catheterization of children with hematologic disease.

Anatomical and functional abnormalities on MRI in kabuki syndrome.

Kabuki syndrome (KS) is a rare congenital disorder (1/32000 births) characterized by distinctive facial features, intellectual disability, short stature, and dermatoglyphic and skeletal abnormalities. In the last decade, mutations in KMT2D and KDM6A were identified as a major cause of kabuki syndrome. Although genetic abnormalities have been highlighted in KS, brain abnormalities have been little explored. Here, we have investigated brain abnormalities in 6 patients with KS (4 males; Mage = 10.96 years, SD = 2.97 years) with KMT2D mutation in comparison with 26 healthy controls (17 males; Mage = 10.31 years, SD = 2.96 years). We have used MRI to explore anatomical and functional brain abnormalities in patients with KS. Anatomical abnormalities in grey matter volume were assessed by cortical and subcortical analyses. Functional abnormalities were assessed by comparing rest cerebral blood flow measured with arterial spin labeling-MRI. When compared to healthy controls, KS patients had anatomical alterations characterized by grey matter decrease localized in the bilateral precentral gyrus and middle frontal gyrus. In addition, KS patients also presented functional alterations characterized by cerebral blood flow decrease in the left precentral gyrus and middle frontal gyrus. Moreover, subcortical analyses revealed significantly decreased grey matter volume in the bilateral hippocampus and dentate gyrus in patients with KS. Our results strongly indicate anatomical and functional brain abnormalities in KS. They suggest a possible neural basis of the cognitive symptoms observed in KS, such as fine motor impairment, and indicate the need to further explore the consequences of such brain abnormalities in this disorder. Finally, our results encourage further imaging-genetics studies investigating the link between genetics, anatomical and functional brain alterations in KS.

Smartphone app for non-invasive detection of anemia using only patient-sourced photos.

We introduce a paradigm of completely non-invasive, on-demand diagnostics that may replace common blood-based laboratory tests using only a smartphone app and photos. We initially targeted anemia, a blood condition characterized by low blood hemoglobin levels that afflicts >2 billion people. Our app estimates hemoglobin levels by analyzing color and metadata of fingernail bed smartphone photos and detects anemia (hemoglobin levels <12.5 g dL-1) with an accuracy of ±2.4 g dL-1 and a sensitivity of 97% (95% CI, 89-100%) when compared with CBC hemoglobin levels (n = 100 subjects), indicating its viability to serve as a non-invasive anemia screening tool. Moreover, with personalized calibration, this system achieves an accuracy of ±0.92 g dL-1 of CBC hemoglobin levels (n = 16), empowering chronic anemia patients to serially monitor their hemoglobin levels instantaneously and remotely. Our on-demand system enables anyone with a smartphone to download an app and immediately detect anemia anywhere and anytime.

Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report.

BACKGROUND: Kabuki syndrome (KS) is a rare congenital anomaly syndrome affecting multiple organs. Two genes have been shown to be mutated in patients with KS: lysine (K)-specific demethylase 6A (KDM6A) and lysine (K)-specific methyltransferase 2D (KMT2D, formerly MLL2). Although the congenital clinical characteristic is helpful in diagnosis of the KS, there are no reports of specific findings in fetuses that might suggest the syndrome prenatally. CASE PRESENTATION: In this study, we described a male patient with a novel KDM6A splicing in exon(exon4) and flanking intron(intron3)-exon boundaries characterized by congenital hydrocephalus which had never been reported before. The male patient had inherited the c.335-1G > T splice site mutation from his mother who had fewer dysmorphic features than the patient who displayed a more severe phenotype with multiple organ involvement. Our research suggests that congenital hydrocephalus may accompany KS type 2, which improve the knowledge on KS further more. CONCLUSIONS: Based on genetic and clinical features, suggest that the c.335-1G > T splicing mutation in KDM6A causing KS-2 disease. At least for this case, we suggest that congenital hydrocephalus is closely associated with KS type 2.