Syncope: Atypical Presentation of Diaphragmatic Hernia.

In this case report, we describe a rare presentation of diaphragmatic hernia in a pediatric patient presenting with syncope. Congenital diaphragmatic hernia (CDH) is a developmental discontinuity of the diaphragm that causes the abdominal viscera to herniate into the thoracic cavity. It is usually diagnosed shortly after birth and is often associated with pulmonary hypoplasia and pulmonary hypertension, causing life-threatening conditions, or it could be completely asymptomatic. Syncope is induced by various conditions such as cerebrovascular disease, arrhythmia, hypoglycemia, anemia, epilepsy, and autonomic nervous disorder.

The diagnostic utility of unenhanced computed tomography of the brain and D-dimer levels in acute cerebral venous sinus thrombosis: A quantitative study.

Objectives: (1) To calculate the sensitivity and specificity of the Hounsfield Unit (HU), the HU to hematocrit (H:H) ratio, and the D-dimer level in the diagnosis of acute CVST. (2) To assess the D-dimer level's linear relationship with the HU and the H:H ratio. Materials and Methods: A single-center retrospective case-control study was conducted from 2005 to 2020. The inclusion criteria for the thrombosed and control groups were specified. A region of interest (ROI) was plotted on the respective sinuses to calculate the HU. The H:H ratio was calculated by dividing the HU value by the hematocrit value. The receiver operating characteristic curve was used to calculate the sensitivity and specificity of the HU and the H:H ratio at different cutoff values. The Pearson correlation was used to assess the linear relationship between the D-dimer level and the HU and H:H ratio. Results: There were 19 patients in the thrombosed group and 28 patients in the control group. There were significant differences in the mean HU (71 ± 6.3 vs. 45 ± 4.8, P < 0.001) and the mean H:H ratio (2.11 ± 0.38 vs. 1.46 ± 0.63,P < 0.001). An optimal HU value of 56 yielded 100% sensitivity and specificity. An H:H value of 1.48 yielded a sensitivity of 100% and a specificity of 65%, an H:H ratio of 1.77 demonstrated a sensitivity of 85% and a specificity of 90%, and an H:H ratio of 1.88 yielded a sensitivity of 79% and a specificity of 93%. D-dimer levels had a 95% and 71% sensitivity and specificity, respectively. There was a significant moderately positive linear correlation between the D-dimer level and the HU (r = 0.52, P < 0.001) and the H:H ratio (r = 0.61, P < 0.001). Conclusion: Unenhanced CT of the brain can be a valuable objective diagnostic tool for acute CVST diagnosis. Hounsfield blood density and its normalized ratio with hematocrit are positively correlated with D-dimer levels, which may indicate active blood coagulation in a cerebral venous sinus.

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.

Membrane trafficking is a complex, essential process in eukaryotic cells responsible for protein transport and processing. Deficiencies in vacuolar protein sorting (VPS) proteins, key regulators of trafficking, cause abnormal intracellular segregation of macromolecules and organelles and are linked to human disease. VPS proteins function as part of complexes such as the homotypic fusion and vacuole protein sorting (HOPS) tethering complex, composed of VPS11, VPS16, VPS18, VPS33A, VPS39 and VPS41. The HOPS-specific subunit VPS41 has been reported to promote viability of dopaminergic neurons in Parkinson's disease but to date has not been linked to human disease. Here, we describe five unrelated families with nine affected individuals, all carrying homozygous variants in VPS41 that we show impact protein function. All affected individuals presented with a progressive neurodevelopmental disorder consisting of cognitive impairment, cerebellar atrophy/hypoplasia, motor dysfunction with ataxia and dystonia, and nystagmus. Zebrafish disease modelling supports the involvement of VPS41 dysfunction in the disorder, indicating lysosomal dysregulation throughout the brain and providing support for cerebellar and microglial abnormalities when vps41 was mutated. This provides the first example of human disease linked to the HOPS-specific subunit VPS41 and suggests the importance of HOPS complex activity for cerebellar function.

A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts.

Pathogenic variants in GEMIN4 contribute to a hereditary disorder characterized by neurodevelopmental features, microcephaly, cataracts, and renal abnormalities (known as NEDMCR). To date, only two homoallelic variations have been linked to the disease. Moreover, clinical features associated with the variants have not been fully elucidated yet. Here, we identified a novel variant in GEMIN4 (NM_015721:exon2:c.440A>G:p.His147Arg) in two siblings from a consanguineous Saudi family by using whole exome sequencing followed by Sanger sequence verification. We comprehensively investigated the patients' clinical features, including brain imaging and electroencephalogram findings, and compared their phenotypic characteristics with those of previously reported cases. In silico prediction and structural modeling support that the p.His147Arg variant is pathogenic.

Natural immunity to influenza A and B among Saudi blood donors in Al Madinah Al Munawarah, Saudi Arabia.

OBJECTIVES:  To investigate the seroprevalence of influenza viruses (A and B) among blood donors in Kingdom of Saudi Arabia. Methods: The present investigation was conducted between April 2019 and July 2019. Participants were healthy adults recruited from the central blood bank Al Madinah Al Munawarah, Kingdom of Saudi Arabia. Immunoglobulin G (IgG) levels against influenza A and B were measured in serum samples using ELISA. RESULTS: The results showed that 29.2% of the sample had significant concentrations of influenza A IgG antibody, whereas 38.6% had significant concentrations of influenza B IgG antibody. A strong correlation was found between the levels of influenza A and influenza B antibodies (r=0.708, p less than 0.001). The number of individuals identified as negative for influenza A IgG antibody increased with age (p less than 0.01). In addition, no correlations were identified between influenza A IgG and influenza B IgG and body mass index (BMI), (p greater than 0.05). Finally, linear regression analysis showed that the level of influenza A antibody can be predicted by age (p less than 0.05) and body mass index (BMI) (p less than 0.05). CONCLUSION:  Approximately one-third of Saudi Arabian adults presented significant levels of influenza A and B antibodies in our study. Demographic factors, including age and BMI, might contribute to influenza A antibody levels.

Canalis basalis medianus with cerebrospinal fluid leak: rare presentation and literature review.

Canalis Basalis Medianus is a rare congenital normal anatomically variant of the clivus .We report a very rare case of cerebrospinal fluid leak from a canalis basilaris medianus in a 22-year-old male, who presented to our hospital with frontal headache and running nose two weeks after an elective septoplasty.