Unveiling the intricate dance: Obesity and TNBC connection examined.

Amid the dynamic field of cancer research, various targeted therapies have proven crucial in combating breast cancer, the most prevalent cancer among women globally. Triple Negative Breast Cancer (TNBC) stands out from other types of breast cancer due to the absence of three key receptors on the cell surface (progesterone, estrogen, and HER2). Researchers are working on finding ways to address TNBC's elusive biomarkers and minimize the damage caused by the disease through treatments like chemotherapies and targeted pathway receptors.

Decreasing Lens Irradiation on Brain Imaging: A Multi-CT Scanner Quality Improvement Project.

Aims: Cataracts, a leading global cause of blindness, are associated with ionising radiation exposure. This audit aimed to enhance lens exclusion during non-contrast head computed tomography (CT) scans at Newham University Hospital (NUH) using two CT scanners.

Methods: A retrospective audit of non-contrast head CT scans at NUH excluded scans for trauma and imaging of orbital structures.

Obstructive hydrocephalus and facial nerve palsy secondary to vertebrobasilar dolichoectasia: Case Report.

Background: Symptomatic hydrocephalus due to vertebrobasilar dolichoectasia is a rare occurrence.

Case Description: We report a patient who presented with acute confusion and vomiting. Neuroimaging revealed elongated and tortuous basilar artery indenting and elevating the floor of third ventricle causing obstructive hydrocephalus.

W-pouch With Modified Non-isolated Extra Limb for Continence in Cutaneous Diversion After Radical Cystectomy.

Objective: To report the functional results of continent cutaneous ileal urinary diversion using modified W-pouch with non-isolated extra limb for continence.

Patients And Methods: From January 2013 to January 2016, 21 patients with muscle-invasive bladder cancer with median (interquartile range) of 59 (56.5-62.

Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia.

Objective: Exome sequences account for only 2% of the genome and may overlook mutations causing disease. To obtain a more complete view, whole genome sequencing (WGS) was analyzed in a large consanguineous family in which members displayed autosomal recessively inherited cerebellar ataxia manifesting before 2 years of age.

Methods: WGS from blood-derived genomic DNA was used for homozygosity mapping and a rare variant search.

Neuro-imaging evaluation after the first afebrile seizure in children: A retrospective observational study.

Purpose: To evaluate the role of neuro-imaging in children presenting with the first afebrile seizure and determine factors that influence the outcome of imaging in a large paediatric emergency centre.

Method: This is a retrospective review of the medical records of all patients presenting with the first non-febrile seizure to a large paediatric emergency centre in the state of Qatar. Seizure classification followed the current ILAE classification system.

W44X mutation in the WWOX gene causes intractable seizures and developmental delay: a case report.

Background: WW domain containing oxidoreductase (WWOX) gene was cloned in 2000; alteration has been seen in many cancer cells. It acts as a tumor suppresser by blocking cell growth and causing apoptosis. WWOX protein showed different expression of mice brain and spinal cord, for which deletion causes seizure and early death.

Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome.

Background: Neuroanatomical defects are often present in children with severe developmental delay and intellectual disabilities. Few genetic loci have been associated with disorders of neurodevelopment. Our objective of the present study was to analyse a consanguineous Arab family showing some of the hallmark signs of a rare cerebellar hypoplasia-related neurodevelopmental syndrome as a strategy for discovering a causative genetic mutation.

Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features.

Sotos syndrome, characterized by intellectual disability and characteristic facial features, is caused by haploinsufficiency in the NSD1 gene. We conducted an etiological study on two siblings with Sotos features without mutations in NSD1 and detected a homozygous frameshift mutation in the APC2 gene by whole-exome sequencing, which resulted in the loss of function of cytoskeletal regulation in neurons. Apc2-deficient (Apc2) mice exhibited impaired learning and memory abilities along with an abnormal head shape.

Lingual mucosal graft in treatment of Peyronie disease.

Objective: To evaluate the use of lingual mucosal graft (LMG) as a substitute for tunica albuginea in the treatment of Peyronie disease (PD).

Patients And Methods: Seventeen patients, reporting normal erectile function, with PD interfering with sexual function were operated on by plaque excision and grafting with LMG. Preoperative assessment included: the International Index of Erectile Function-5 score, penile duplex, and penile curvature angle measurement.

Joubert syndrome labeled as hypotonic cerebral palsy.

Joubert syndrome (JS) is a rare autosomal recessive disorder with cerebellar vermis hypoplasia and complex brainstem malformation. The diagnosis of cases can be difficult as the presentation can be similar to cases of cerebral palsy. We present a case of JS in an 18-month-old girl who presented to pediatric rehabilitation with a diagnosis of hypotonic cerebral palsy and abnormal eye movements.

Flank free modified supine position: A new modification for supine percutaneous nephrolithotomy.

Objectives: Percutaneous nephrolithotomy (PCNL) is the standard management for large and/or complex urolithiasis, but the standard patient position for PCNL is undecided. With the patient prone PCNL has several drawbacks, while when supine, as described previously, PCNL has mechanical limitations. We describe a modification that aims to overcome these limitations and provide easy access comparable to that in the prone position.

Evaluation of transvaginal slings using different materials in the management of female stress urinary incontinence.

Purpose: To evaluate tailored polypropylene (prolene) mesh, anterior rectus sheath, and vaginal wall slings positioned under the mid-urethra, to treat stress urinary incontinence (SUI) in women, as SUI is a common pathological condition causing considerable distress and compromising social, physical, psychological, and sexual health, and for which surgical treatment remains controversial.

Patients And Methods: This prospective randomised study included 32 patients with SUI, evaluated by SEAPI (Stress, Emptying, Anatomy, Protection, and Instability) symptom score and urodynamics. According to sling material, 12 patients had tailored prolene mesh, 12 had anterior rectus sheath and eight had anterior vaginal wall slings.

Neurocysticercosis in Qatari patients: case reports.

Neurocysticercosis is the most common parasitic infection of the central nervous system. It is a major cause of seizures in developing countries, especially in the Indian subcontinent and most of Asia, Latin America and Africa. It is increasing in prevalence in Muslim countries, especially in the Gulf region reflecting the demographics of these countries which rely heavily on labourers from highly endemic areas.