Novel Variant in Muscular Dystrophy: Identification by Whole Genome Sequencing and Quad Analysis.

Background: The phenotypic spectrum of muscle disease ranges widely from elevated creatine kinase (CK) levels in the serum of asymptomatic individuals to progressive muscular dystrophy. Due to overlapping clinical features among muscular dystrophies, the diagnosis of muscle disease is established by molecular genetic tests. Early diagnosis is crucial for the clinical management of symptoms and to mitigate cardiac and musculoskeletal complications.

Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy: Insight from Trio Whole Genome Analysis and Isodisomy Mapping.

Purpose: An investigation for the co-occurrence of two unrelated genetic disorders of muscular dystrophy and Prader-Willi syndrome (PWS) (OMIM#176270) using joint whole genome sequencing (WGS).

Methods: Trio WGS joint analysis was performed to investigate the genetic etiology in a proband with PWS, prolonged muscular hypotonia associated hyperCKemia, and early-onset obesity. The parents were unaffected.

SHORT-TERM OUTCOMES OF PERCUTANEOUS RADIOFREQUENCY AND MICROWAVE ABLATION IN THE TREATMENT OF SMALL RENAL MASSES.

Although the gold standard in the management of kidney tumors is surgical treatment, thermal ablation methods are a viable therapeutic option for patients with small (<4 cm) renal masses who are poor surgical candidates. The aim of this study was to compare the technical success, primary efficacy and complication rate of percutaneous radiofrequency and microwave ablation in the treatment of small renal masses. A retrospective analysis of consecutive patients with small renal masses treated with radiofrequency or microwave ablation between December 2017 and January 2022 was conducted.

PRAME expression and its prognostic significance in invasive breast carcinoma.

Objectives: PRAME (PReferentially expressed Antigen in MElanoma) is a carcinoma testis antigen expressed in numerous tumour types. The aim of this study was to assess PRAME expression in different surrogate subtypes of breast carcinoma and its correlation with other prognostic factors.

Material And Methods: A total of 220 cases of invasive breast carcinoma were selected and categorized according to ER, PgR, HER2 status, and Ki67 proliferation index in luminal A like, luminal B HER2+ like, luminal B HER2- negative like, HER2 positive like and triple-negative or basal-like.

Complications of Percutaneous Vertebroplasty: A Pictorial Review.

Percutaneous vertebroplasty is a minimally invasive treatment technique for vertebral body compression fractures. The complications associated with this technique can be categorized into mild, moderate, and severe. Among these, the most prevalent complication is cement leakage, which may insert into the epidural, intradiscal, foraminal, and paravertebral regions, and even the venous system.

The Use of Contrast-Enhanced Ultrasound (CEUS) in the Evaluation of the Neonatal Brain.

In recent years, advancements in technology have allowed the use of contrast-enhanced ultrasounds (CEUS) with high-frequency transducers, which in turn, led to new possibilities in diagnosing a variety of diseases and conditions in the field of radiology, including neonatal brain imaging. CEUSs overcome some of the limitations of conventional ultrasounds (US) and Doppler USs. It allows the visualization of dynamic perfusion even in the smallest vessels in the whole brain and allows the quantitative analysis of perfusion parameters.

Breast Cancer Surrogate Subtype Classification Using Pretreatment Multi-Phase Dynamic Contrast-Enhanced Magnetic Resonance Imaging Radiomics: A Retrospective Single-Center Study.

This study aimed to explore the potential of multi-phase dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) radiomics for classifying breast cancer surrogate subtypes. This retrospective study analyzed 360 breast cancers from 319 patients who underwent pretreatment DCE-MRI between January 2015 and January 2019. The cohort consisted of 33 triple-negative, 26 human epidermal growth factor receptor 2 (HER2)-positive, 109 luminal A-like, 144 luminal B-like HER2-negative, and 48 luminal B-like HER2-positive lesions.

Calcium-Sensing Receptor Expression in Breast Cancer.

The calcium-sensing receptor (CaSR) plays a crucial role in maintaining the balance of calcium in the body. Altered signaling through the CaSR has been linked to the development of various tumors, such as colorectal and breast tumors. This retrospective study enrolled 79 patients who underwent surgical removal of invasive breast carcinoma of no special type (NST) to explore the expression of the CaSR in breast cancer.

Percutaneous CT-Guided Bone Lesion Biopsy for Confirmation of Bone Metastases in Patients with Breast Cancer.

We aimed to determine diagnostic accuracy of CT-guided bone lesion biopsy for the confirmation of bone metastases in patients with breast cancer and assessment of hormone receptor status in metastatic tissue. A total of 56 female patients with breast cancer that underwent CT-guided biopsy of suspected bone metastasis were enrolled in this retrospective study. Three different techniques were employed to obtain samples from various sites of skeleton.

Case Report: Advanced Skeletal Muscle Imaging in S-Adenosylhomocysteine Hydrolase Deficiency and Further Insight Into Muscle Pathology.

Introduction: S-Adenosylhomocysteine hydrolase deficiency (SAHHD) is a rare inherited multisystemic disease with muscle involvement as one of the most prominent and poorly understood features. To get better insight into muscle involvement, skeletal muscles were analyzed by magnetic resonance imaging (MRI) and MR spectroscopy (MRS) in three brothers with SAHHD in the different age group.

Method: The study was based on analysis of MRI and MRS of skeletal muscles of the lower and the proximal muscle groups of the upper extremities in three SAHHD patients.

Diagnostic performance of digital breast tomosynthesis in female patients with nipple discharge.

Background: Nipple discharge is one of the most common symptoms related to the breast, but it is a presenting feature of breast cancer in 5%-12% of women.

Aims: The purpose of this study was to determine the diagnostic performance of digital breast tomosynthesis (DBT) in the evaluation of patients with nipple discharge and to compare it with mammography (MMG), ultrasound (US), and magnetic resonance imaging (MRI).

Methods And Results: This retrospective study included 53 patients with nipple discharge.

Breast metastasis as the initial presentation of malignant pleural mesothelioma.

Metastatic involvement of the breast is far less common than primary breast carcinoma, comprising 0.5%-6.6% of all breast malignancies.

Changes in total body surface area and the distribution of skin surfaces in relation to body mass index.

Background: A correct estimation of total burn surface area is important since it is used for determining fluid resuscitation volumes, nutritional estimates and hospital admission criteria. Wallace's rule of nines is the most commonly used methods for this purpose. However, fat distribution is non-uniform and the total body surface area changes with obesity.

Intraarticular synovial sarcoma of the knee rising from a lateral meniscus - a case report.

Unlabelled: Synovial sarcoma (SS) is a rare mesenchymal tumor, accounting less than 10% of soft tissue sarcomas. We report a case of intraarticular SS mimicking nodular synovitis and lateral meniscus rupture. Due to clinical and radiological presentation, arthroscopic synovectomy was performed, and histology confirmed nodular synovitis.

[RARE LOCALIZATION OF OSTEOID OSTEOMA--DISTAL PHALANX OF THE RING FINGER].

With this clinical observation we would like to bring to mind osteoid osteoma as a possible cause of problems of distal phalanx of the fingers. Osteoid osteoma occurs rarely at this location and has atypical presentation. The main symptoms are swelling and redness of the fingertip with nail deformity, while typical night pain may not be present.

Correlation of MRI features and pathohistological prognostic factors in invasive ductal breast carcinoma.

Objective: The aim of this study was to correlate magnetic resonance imaging (MRI) features of invasive ductal carcinomas (IDC) with pathohistological prognostic factors. Such an association, if present, could have significant translational implications for early identification of aggressive types of breast cancer.

Materials And Methods: One hundred and fourteen consecutive women with IDC who underwent breast MRI within one month prior to surgery were included in this retrospective study.

Role of breast imaging in predicting outcome of lesions of uncertain malignant potential (B3) diagnosed at core needle biopsy.

Aims: To elucidate whether breast imaging can predict final histologic diagnosis of lesions of uncertain malignant potential diagnosed at ultrasound core needle biopsy (CNB).

Methods: The imaging characteristics (mammography, ultrasound, and magnetic resonance imaging [MRI]) of lesions of uncertain malignant potential in the breast that were obtained by ultrasound CNB were retrospectively analyzed in 87 women. Radiologic characteristics of lesions were compared to definitive histopathologic findings.

Incidental extra-mammary findings in breast MRI.

Aim: To investigate the frequency, distribution, and nature of incidental extra-mammary findings detected with breast MRI.

Materials And Methods: Incidental findings were defined as unexpected lesions outside the breast, not previously known or suspected at the time of referral. Five hundred consecutive breast MRI studies performed from June 2010 to September 2012 were reviewed in this retrospective study for which the institutional review board granted approval and waived the requirement for informed consent.

Possible target for preventing fibrotic scar formation following acute myocardial infarction.

Bone morphogenetic protein 1 (BMP1) was originally isolated from bone with other BMPs due to its affinity for heparin. While all other BMPs are members of the Transforming Growth Factor β (TGFβ) superfamily of growth factors, BMP1 is not an authentic member of the BMP protein family. Together with mammalian Tolloid Like protein 1 (mTLL-1) and mTLL-2, BMP1 comprise a small group of zinc- and calcium-dependent proteinases.