Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti.

Incontinentia pigmenti (IP) is caused by loss-of-function variants in , with molecular genetic diagnosis complicated by a pseudogene. We describe seven individuals from three families with IP but negative clinical testing in whom long-read sequencing identified causal variants. Concurrent methylation analysis explained disease severity in one individual who died from neurologic complications, identified a mosaic variant in an individual with an atypical presentation, and confirmed skewed X-chromosome inactivation in an XXY individual.

Proteasome Inhibition Sensitizes Liposarcoma to MDM2 Inhibition with Nutlin-3 by Activating the ATF4/CHOP Stress Response Pathway.

Unlabelled: Liposarcoma is the most commonly occurring soft-tissue sarcoma and is frequently characterized by amplification of chromosome region 12q13-15 harboring the oncogenes MDM2 and CDK4. This unique genetic profile makes liposarcoma an attractive candidate for targeted therapeutics. While CDK4/6 inhibitors are currently employed for treatment of several cancers, MDM2 inhibitors have yet to attain clinical approval.

Horse Kick to the Abdomen Causing a Triad of Injury: A Case Report.

A 35-year-old male, a horse trainer, was brought to the emergency room after being kicked in the abdomen, which resulted in an abdominal wall hematoma and a blow-out rupture of the proximal jejunum, with a mesenteric tear and posterior lumbar disc herniation. The initial evaluation did not raise significant concerns; however, the patient's abdominal pain progressively worsened after the administration of oral contrast in preparation for the computed tomography (CT) scan. The patient did well after abdominal exploration and operative repair of the small bowel injury.

Inferior Vena Cava Calcified Thrombus Presenting With Abdominal Pain: A Case Report.

De novo thrombosis of the inferior vena cava (IVC) can cause significant morbidity and mortality. Calcified thrombus of IVC is an extremely rare incidental finding and is associated with recurrent deep venous thrombosis (DVT) and pulmonary embolism (PE). We present a case of abdominal pain secondary to a calcified thrombus in the supra-hepatic region of the IVC.

The co-occurrence of Down syndrome and autism spectrum disorder: is it because of additional genetic variations?

Individuals with Down syndrome (DS) are diagnosed with autism spectrum disorder (ASD) at a significantly higher frequency than the typical population. The differentiation of ASD symptoms from those of severe intellectual disability presents diagnostic challenges, which have led to more refined methods in the clinical evaluation of ASD in DS. These improved phenotypic characterization methods not only provide better diagnosis of ASD in DS, but may also be useful in elucidating the etiology of the increased prevalence of ASD in DS.

Is breast MRI helpful in the evaluation of inconclusive mammographic findings?

Objective: The purpose of this study was to evaluate the usefulness of MRI of the breast in cases in which mammographic or sonographic findings are inconclusive.

Materials And Methods: We retrospectively reviewed images from 115 MRI examinations of the breast performed from 1999 to 2005 for the indication of problem-solving for inconclusive findings on a mammogram. Forty-eight of the 115 women (41.

Benefits of contrast-enhanced sonography for the detection of liver lesions: comparison with histologic findings.

Objective: The objective of our study was to compare the usefulness of contrast-enhanced sonography with baseline sonography in detecting malignant liver lesions.

Subjects And Methods: This prospective study included 116 patients. All patients underwent a preoperative conventional sonography examination followed by sonography after injection of contrast agent combined with the use of perfusion software (vascular recognition imaging or pulse subtraction imaging).