We present two new cases of the short QT syndrome--a 23-year-old male and his 42-year-old mother. Invasive electrophysiological study was negative in both patients. Due to polymorphic ventricular tachycardia recorded during Holter ECG monitoring, an ICD was implanted in the male patient for primary prevention. Blood samples were collected for further genetic studies. Diagnosis and management of patients with the short QT syndrome are discussed.
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Pak J Med Sci
January 2025
Khemchand N Moorani, MBBS, MCPS, FCPS, IPNA Pediatr Nephrol fellowship Professor, Department of Pediatric Nephrology, The Kidney Centre Post Graduate Training Institute, Karachi. 197/9, Rafiqui Shaheed Road, Karachi-75530, Pakistan.
Objectives: To determine the effectiveness of Levamisole (Leva) in maintaining short-term and long-term remission in early steroid responders (ESRs) and late steroid responders (LSRs).
Methods: This retrospective study on 106 cohorts, aged 2-14 years with frequent-relapsing (FR) and steroid-dependent nephrotic syndrome (SDNS) who received Leva over 10-years (2012-2023), was carried out at tertiary care centre, Karachi from January-August 2023. Patients were categorized based on steroid response during first episode of NS as ESRs if complete remission (CR) was achieved within two weeks of daily steroid and LSRs if CR achieved between two-four weeks.
J Clin Med
January 2025
Department of Obstetrics and Gynecology, ASST Monza, San Gerardo Hospital, University Milano-Bicocca, 20900 Monza, Italy.
CUOB (co-existent underactive overactive bladder) syndrome is a clinical entity that embraces storage and emptying symptoms, not strictly correlated with urodynamic findings. We assessed the differences between patients diagnosed with CUOB with/without cystocele. The study group was allocated from 2000 women who underwent urodynamic studies between 2008 and 2016.
View Article and Find Full Text PDFFront Cardiovasc Med
January 2025
Cardiology Department and Experimental Animal Center, Liaocheng People's Hospital of Shandong University and Liaocheng Hospital Affiliated to Shandong First Medical University, Liaocheng, Shandong, China.
Both de Winter syndrome and Wellens syndrome mainly indicate severe stenosis in the proximal segment of the anterior descending coronary artery. However, as research deepens, the accuracy and specificity of diagnosing proximal left anterior descending coronary artery (LAD) culprit lesions separately by de Winter syndrome or Wellens syndrome are challenged. The patient in this case developed both syndromes in a short period of time, and imaging showed significant stenosis of the proximal LAD, indicating a culprit lesion.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
January 2025
Shenzhen Key Laboratory of Biomolecular Assembling and Regulation, Department of Neuroscience, School of Life Sciences, Southern University of Science and Technology, Shenzhen 518055, China.
Ankyrin Repeat Domain-containing Protein 11 () is a causative gene for KBG syndrome, a significant risk factor for Cornelia de Lange syndrome (CdLS), and a highly confident autism spectrum disorder gene. Mutations of lead to developmental abnormalities in multiple organs/tissues including the brain, craniofacial and skeletal bones, and tooth structures with unknown mechanism(s). Here, we find that ANKRD11, via a short peptide fragment in its N-terminal region, binds to the cohesin complex with a high affinity, implicating why mutation can cause CdLS.
View Article and Find Full Text PDFRev Paul Pediatr
January 2025
Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brazil.
Objective: 3p deletion syndrome is a rare monosomal disease that encompasses deletions throughout the short arm of chromosome 3. It is often in the distal region (3p25-pter), but variations in breakpoints and a complex clinical manifestation exist, with congenital heart defects being considered rare. We present the first case of hypoplastic left heart syndrome and minor dysmorphic features associated with 3p- syndrome.
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