ABSTRACT
Turner syndrome (TS) is an abnormality of the X chromosome affecting females. This genetic defect causes infertility in most cases, but less commonly in patients with the mosaic form of Turner syndrome. In the rare event of a pregnancy, it usually leads to maternal and fetal complications, including miscarriage. In this study, we report a case of mosaic Turner syndrome (45,X/46,XX) in a 34-year-old female who presented to our outpatient clinic with a two-year history of secondary infertility following nine previous spontaneous pregnancies (SP). Her obstetric history showed two successful healthy pregnancies, seven first-trimester miscarriages, one intrauterine fetal demise (IUFD), and one infant death at six months of age. Cases of pregnancy in mosaic Turner syndrome patients are limited and have poor pregnancy outcomes; here, we aim for our case to contribute to the improvement of pregnancy outcomes in such patients.
ABSTRACT
[This corrects the article DOI: 10.7759/cureus.34731.].
ABSTRACT
Behavioral epileptic seizures (BES) are a unique type of seizure that can be presented with or without the classic limb movements of epilepsy. This type of seizure is commonly associated with the frontal and temporal lobes of the brain. Symptoms consist of anxiety, smiling, crying, fear, aggression, irritability, and change in awareness or activity. We report a case of unusual seizure presentation of jerky movements followed by intense fear and crying caused by a right parietal cavernous malformation with chronic bleeding.
ABSTRACT
Background: Autism Spectrum Disorder (ASD) is a multifactorial, neurodevelopmental disorder, characterized by deficits in communication, restricted and repetitive behaviors. ASD is highly heritable in Saudi Arabia; indecencies of affected individuals are increasing. Objectives: To identify the most significant genes and SNPs associated with the increased risk of ASD in Saudi females to give an insight for early diagnosis. Methods: Pilot case-control study mostly emphasized on the significant SNPs and haplotypes contributing to Saudi females with ASD patients (n = 22) compared to controls (n = 51) without ASD. With the use of allelic association analysis tools, 243,345 SNPs were studied systematically and classified according to their significant association. The significant SNPs and their genes were selected for further investigation for mapping of ASD candidate causal variants and functional impact. Results: In females, five risk SNPs at p ≤ 2.32 × 10-05 was identified in association with autism. The most significant exonic variants at chromosome 6p22.1 with olfactory receptor genes (OR12D2 and OR5V1) clustered with high linkage disequilibrium through haplotyping analysis. Comparison between highly associated genes (56 genes) of male and female autistic patients with female autistic samples revealed that 39 genes are unique biomarkers for Saudi females with ASD. Conclusion: Multiple variations in olfactory receptor genes (OR5V1 and OR12D2) and single variations on SPHK1, PLCL2, AKAP9 and LOC107984893 genes are contributing to ASD in females of Arab origin. Accumulation of these multiple predisposed coding SNPs can increase the possibility of developing ASD in Saudi females.
ABSTRACT
Endometrial stromal sarcoma (ESS) is a rare, malignant tumor of the endometrium. Low-grade endometrial stromal sarcoma (LG-ESS) is a less aggressive subtype of ESS that rarely metastasizes to the heart and large blood vessels. In the present study, we report a case of recurrent LG-ESS after treating the initial mass in the uterus six years ago in a 49-year-old female who presented with a four-month history of dyspnea and easy fatigability. Investigations revealed a right pulmonary embolism, suspicious right psoas muscle mass, and a large inferior vena cava (IVC) thrombus. One month later, she presented with multiple gastrointestinal symptoms and weight loss. Investigations then showed the development of a new right atrial mass, infra-diaphragmatic metastatic lymphadenopathy, progression of the presacral soft tissue component, invasion of the ileal bowel loop, and a tumoral thrombus in the IVC besides new metastatic lymphadenopathy and pulmonary metastasis. Therefore, a multidisciplinary team, which had a crucial role in this complicated case, decided to commence chemotherapy treatment. Such an unusual aggressive metastatic course of LG-ESS is limited in the literature; herein, we recognize a rarely documented disease.
ABSTRACT
An intracranial solitary fibrous tumor (SFT) is a rare and aggressive tumor with a high propensity for locoregional recurrence and distant metastasis. The formerly used collective term for this tumor, "solitary fibrous tumor/hemangiopericytoma", has recently fallen out of use and is now commonly replaced with the term "solitary fibrous tumor". We describe a rare case of intracranial SFT with simultaneous metastasis to the spine, the right humerus, and the lungs four years after resection and radiotherapy of the primary tumor.
