EPAS1-related pheochromocytoma/paraganglioma.

In 2012, somatic EPAS1 pathogenic variants were found to cause a triad of pheochromocytoma/paragangliomas (PPGLs), polycythemia, and somatostatinoma. Since then, a limited number of studies on this subject have been reported, and data on the long-term outcome of metastatic disease are not available on this rare syndrome. We comprehensively reviewed EPAS1-related PPGL and describe an unusual patient who has been living with an EPAS1-related metastatic PPGL for 47 years.

LncRNA GAS8-AS1 dinucleotide genetic variant is associated with early-stage disease, lymph node, and distant metastasis in differentiated thyroid cancer.

Purpose: Long noncoding RNAs (lncRNAs) play an essential role in the epigenetic regulation of various key genes involved in vital cellular functions. A somatic dinucleotide mutation in the lncRNA GAS8-AS1 was reported in Chinese papillary thyroid cancer. However, GAS8-AS1 dinucleotide alteration and its impact have never been explored in differentiated thyroid cancers and other populations.

An aggressive cabergoline-resistant, temozolomide-responsive macroprolactinoma due to a germline pathogenic variant in the absence of paraganglioma or pheochromocytoma.

Context: Germline succinate dehydrogenase subunit B () pathogenic variants are characteristic of familial paraganglioma (PGL) syndrome type 4. This syndrome frequently presents with abdominal PGL and has high tendency for locally aggressive behavior and distant metastasis. The vast majority of pituitary adenomas (PAs) are sporadic.

Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy.

Congenital muscular dystrophies are a group of progressive disorders with wide range of symptoms associated with diverse cellular mechanisms. Recently, biallelic variants in GGPS1 were linked to a distinct autosomal recessive form of muscular dystrophy associated with hearing loss and ovarian insufficiency. In this report, we present a case of a young patient with a homozygous variant in GGPS1.

Thyroid Cancer, Neuroendocrine Tumor, Adrenal Adenoma, and Other Tumors in a Patient With a Germline Mutation.

Context: Multiple tumors in the same patient suggest a genetic predisposition. Here, we report a patient who presented with several unusual types of malignant and benign tumors, presumably due to a pathogenic germline mutation.

Case: A 69-year-old woman presented with a 2-year history of abdominal pain and diarrhea.

Accuracy and Utility of Internet Image Search as a Learning Tool for Retinal Pathology.

 Ophthalmology residency training heavily relies on visual and pattern recognition-based learning. In parallel with traditional reference texts, online internet search via Google Image Search (GIS) is commonly used and offers an accessible fund of reference images for ophthalmology trainees seeking rapid exposure to images of retinal pathology. However, the accuracy and quality of this tool within this context is unknown.

Molecular Genetics of Diffuse Sclerosing Papillary Thyroid Cancer.

Context: Diffuse sclerosing papillary thyroid cancer (DSPTC) is rare, with limited data on its molecular genetics.

Objective: We studied the molecular genetics of a cohort of DSPTC.

Methods: DNA was isolated from paraffin blocks of 22 patients with DSPTC (15 females, 7 males, median age 18 years, range 8-81).

A molecular study of pediatric pilomyxoid and pilocytic astrocytomas: Genome-wide copy number screening, retrospective analysis of clinicopathological features and long-term clinical outcome.

Background: Pilocytic Astrocytoma (PA) is the most common pediatric brain tumors. PAs are slow-growing tumors with high survival rates. However, a distinct subgroup of tumors defined as pilomyxoid astrocytoma (PMA) presents unique histological characteristics and have more aggressive clinical course.

The impact of thyroid imaging reporting and data system on the management of Bethesda III thyroid nodules.

Objectives: Atypia of undetermined significance (AUS) or follicular lesion of undetermined significance (FLUS) is a heterogeneous category of fine needle aspiration cytology (FNAC); the management of this condition remains controversial. The clinical significance of such patients relies on the exclusion of malignancy. In this study, we aimed to determine the validity of the American College of Radiology Thyroid Imaging Reporting and Data System (ACR TI-RADS) (2017) for predicting malignancy in this specific category of patients.

Clinicopathologic and genomic characterizations of brain metastases using a comprehensive genomic panel.

Central nervous system (CNS) metastasis is the most common brain tumor type in adults. Compared to their primary tumors, these metastases undergo a variety of genetic changes to be able to survive and thrive in the complex tissue microenvironment of the brain. In clinical settings, the majority of traditional chemotherapies have shown limited efficacy against CNS metastases.

A Unique Mechanism of a Novel Synonymous PHEX Variant Causing X-Linked Hypophosphatemia.

Context: Synonymous mutations are usually nonpathogenic.

Objective: We report here a family with X-linked hypophosphatemia (XLH) due to a novel synonymous PHEX variant with a unique mechanism.

Methods: We studied a 4-member family (a mother, a son, and 2 daughters), all affected with XLH.

Outcomes of pars plana vitrectomy following ocular trauma at varying surgical time points.

Background: The optimal timing of pars plana vitrectomy (PPV) following ocular trauma is an ongoing debate. Early vitrectomy post-trauma enables the rapid assessment of retinal disease by removing the scaffold that fosters proliferative vitreoretinopathy. On the other hand, late vitrectomy is less challenging as there is a lower risk of bleeding and posterior vitreous detachment induction is easier.

Case Report: Severe Gonadal Dysgenesis Causing 46,XY Disorder of Sex Development Due to a Novel Variant.

Mutations in the nuclear receptor subfamily 5 group A member 1 () are the underlying cause of 10-20% of 46,XY disorders of sex development (DSDs). We describe a young girl with 46,XY DSD due to a unique novel mutation of the gene. An 11-year-old subject, raised as a female, was noticed to have clitromegly.

Fumarate Hydratase is a Novel Gene for Familial Non-Medullary Thyroid Cancer.

Context: The majority of cases of epithelial cell-derived thyroid cancer are sporadic. Familial non-medullary thyroid cancer (FNMTC) occurs in about 5% to 9% of cases, either as a part of known syndromes such as Cowden syndrome or in the form of familial clustering of 2 or more affected family members. Hereditary leiomyoma and renal cell cancer (HLRCC) syndrome is a rare familial cancer syndrome.

Papillary Thyroid Cancer and a Promotor Mutation-positive Paraganglioma in a Patient With a Germline Mutation.

Purpose: About 40% of paragangliomas (PGL) are due to germline mutations in one of several susceptibility genes. These genes rarely predispose to other non-PGL tumors. Here, we describe and functionally characterize a germline mutation in a patient who developed a mutation-positive papillary thyroid cancer (PTC) and a promotor mutation-positive PGL.

Clinical, Neurophysiological, Radiological, Pathological, and Genetic Features of Dysferlinopathy in Saudi Arabia.

Background: To characterize the phenotypic, neurophysiological, radiological, pathological, and genetic profile of 33 Saudi Arabian families with dysferlinopathy.

Methods: A descriptive observational study was done on a cohort of 112 Saudi Arabian families with LGMD. Screening for the Dysferlin (DYSF) gene was done in a tertiary care referral hospital in Saudi Arabia.

Non-specific Low Back Pain Among Nurses in Qassim, Saudi Arabia.

Introduction Non-specific low back pain (LBP) is a complex and multifactorial health problem. Evidence has shown that LBP is an important occupational hazard and nurses are particularly at high risk. While several studies have addressed the prevalence of LBP worldwide, the prevalence of LBP in Saudi Arabia remains unclear.

related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases.

Purpose: To report on two rare and one novel pathogenic variants in two patients associated with a previously uncharacterized phenotype of retinal degeneration.

Methods: Case report.

Results: A 4 year-old and a 19 year-old female presented with reduced vision and bilateral bull's eye maculopathy.

Phenotypic Variability of Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population.

Congenital myopathies are rare neuromuscular hereditary disorders that manifest at birth or during infancy and usually appear with muscle weakness and hypotonia. One of such disorders, early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD, OMIM: 614399, MIM: 612453), is a rare autosomal recessive disorder caused by biallelic mutations (at homozygous or compound heterozygous status) in (multiple epidermal growth factor-like domains protein family). Here, we report two unrelated patients, who were born to consanguineous parents, having two novel deleterious variants.

Controversy on the management of patients carrying RET p.V804M mutation.

Context: RET p.V804M is classified as a moderate risk mutation for familial medullary thyroid cancer (FMTC). There is a significant controversy on the management of patients carrying this mutation.

Analysis of and somatic mutations in differentiated thyroid cancers.

Anaplastic lymphoma kinase (), isocitrate dehydrogenase 1 and 2 ( and ) and matrix metalloproteinase 8 () gene mutations have been frequently reported in human cancers; however, to the best of our knowledge, they have not been specifically examined in differentiated thyroid cancers (DTCs). Therefore, the present study aimed to determine the somatic mutational frequencies of these genes in DTCs. Mutational analysis of the (exons 23, 24 and 25), (exon 4), (exon 4), and (all exons 1-10) was performed in 126, 271, 271 and 50 DTCs, respectively.

Clinical and genetic features of Calpainopathies in Saudi Arabia - a descriptive cross-sectional study.

Objective: Limb-girdle muscular dystrophies (LGMD) is a heterogeneous group of genetic disorders characterized by progressive weakness of pelvic and shoulder girdle muscles. The objective is to characterize the phenotypic, pathological, radiological, and genetic findings in LGMD2A phenotype (Calpainopathies).

Patients And Methods: The National Saudi Arabian LGMD cohort database was screened for LGMD from January 2000 to January 2021.

Influence of stereotactic imaging on operative time in deep brain stimulation.

Background: Various techniques are used across institutions for implantation of deep brain stimulation (DBS) leads. The most used techniques for each step include preoperative MRI fused to in-frame CT, intraoperative fluoroscopy, and postoperative CT, but postimplantation MRI also is used, as it was at our center. We present the quality assurance study performed at our institution after a change from postimplantation MRI performed across the hospital to postimplantation in room CT.

MYH1 is a candidate gene for recurrent rhabdomyolysis in humans.

Rhabdomyolysis is a serious medical condition characterized by muscle injury, and there are recognized genetic causes especially in recurrent forms. The majority of these cases, however, remain unexplained. Here, we describe a patient with recurrent rhabdomyolysis in whom extensive clinical testing failed to identify a likely etiology.

Single nucleotide polymorphisms in matrix metalloproteinase 2 (MMP2) enhance BRAFV600E mutation-mediated oncogenicity and invasiveness of papillary thyroid cancer cells.

Thyroid cancer is a common endocrine neoplasm. Despite its good prognosis, it can lead to significant morbidity and mortality due to metastasis and recurrence. However, the factors involved in metastasis are not well studied.