Potential oligogenic disease of mental retardation, short stature, spastic paraparesis and osteopetrosis

Abdulaziz Alsemari,1 Mohanned Alsuhaibani,2 Rawabi Alhathlool,1 Bayan Mamdouh Ali1 1Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; 2Department of Radiology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia Abstract: The interaction of multiple genetic factors, as opposed to monogenic inheritance, has been suspected to play a role in many diseases. This interaction has been described as an oligogenic inheritance model, which may be a useful tool in explaining certain clinical observations. The purpose of this study was to search for novel genetic defects among members of a family with traits that include mental retardation, short stature, osteopetrosis, calcification of basal ganglia, and thinning of the corpus callosum. In the index case (111-4), we identified four homozygous mutations: chromosome 8, intron2 (c.232+1G>A) at CA2 gene; chromosome 15, exon 32 (c.6100C>T) at the SPG11; chromosome 5, exon 11 (c.1015G>A) at the MCCC2; and chromosome 9, exon 9 (C.1193g>t) at the LARP gene. The mutations were confirmed by Sanger sequencing, and both parents were observed to be heterozygous for the four mutations. A moderately affected sister of the index case was homozygous for only three mutations in CA2, LARP, and Mccc2, while a nonaffected sister was heterozygous for three mutations in CA2, LARP, and MCCC2 and negative for SPG11. The clinical features of the two affected sisters can be explained distinctively by each homozygous mutation in an oligogenic pattern of inheritance. This family represents an example of an oligogenic pattern of inheritance of mental retardation, short stature, spastic paraparesis, and osteopetrosis. Keywords: mental retardation, short stature, spastic paraparesis, CA2, SPG11, LARP, oligogeni

Conjunctival Pediatric Follicular Lymphoma: Case Report and Literature Review

Follicular lymphoma (FL) is the second most commonly reported B-cell lymphoma and accounts for 6% of all orbital lymphomas. FL presentation in the pediatric population is rare. This study reported an 18-year-old male with a pink elevated lesion in the conjunctiva of the left eye and normal ocular parameters. Following a complete excisional biopsy, the lesion was oval and smooth grossly and showed dense proliferation with a high nuclear-cytoplasmic ratio microscopically. Immunohistochemical studies revealed positive CD20 and bcl-6 while bcl-2 was negative, which is a common feature for pediatric FL in contrast to bcl-2 positivity found by immunohistochemistry in FL occurring in adult patient population. No signs of recurrence were observed over 2 years of follow-up. This study adds a new case to the existing few reports. Interestingly, all reported cases were males including the patient, mean duration of onset was 5 months, and mean duration of follow-up was 18.4 months. The authors emphasize that total surgical excision with close monitoring is reasonable management of such clinical entity

Prevalence of Fast Food Intake among a Multi-Ethnic Population of Young Men and Its Connection with Sociodemographic Determinants and Obesity

Fast food is commonly consumed by young adults. Eating fast food is connected with the risk of obesity and other related diseases. The present study examines the prevalence of fast food intake in a diverse sample of young men. This cross-sectional study included 3600 young men (20–35 years) who resided in Riyadh, KSA. The frequency of fast food intake was assessed using a valid and reliable questionnaire. Weekly and daily intake of fast food were the two outcome variables adopted to assess the intake frequency. Weight and height were measured. Fast food was eaten by 88.8% and 50.1% of participants weekly and daily, respectively. Fast food intake was predicted by the nationality of participants. The highest prevalence of weekly fast food intake (99.7%) was observed among Saudi, Egyptian, and Indian participants, while the lowest rate was observed among Sudanese participants (48.6%). The highest and lowest rates of daily intake were seen among Filipino (83.4%) and Bangladeshi (6.3%) participants. Obesity was another predictor of fast food intake. Obese participants had a significantly higher odds ratio of weekly (OR = 2.89, p = 0.006) and daily (OR = 1.39, p = 0.021) fast food intake than non-overweight/non-obese participants. In conclusion, fast food is frequently consumed by young men in KSA. Our findings link the likelihood of fast food intake to sociodemographic determinants and obesity

Anti-Factor Xa Levels in Low-weight Surgical Patients Receiving Enoxaparin for Venous Thromboembolism Prophylaxis: A Prospective Cohort Study

Enoxaparin is indicated for thromboprophylaxis in non-orthopedic surgical patients at a fixed dose of 40 mg daily. According to the US Food and Drug Administration’s enoxaparin prescribing information, this dose exposes low-weight patients (males &lt; 57 kg, females &lt; 45 kg) to a higher risk of bleeding. This study aimed to determine the rate of achieving a prophylactic peak anti-factor Xa (AFXa) level in low-weight surgical patients using enoxaparin 30 mg daily. Low-weight patients admitted for abdominopelvic or noncardiac thoracic surgery from May 2018 to May 2019 were prospectively studied. After receiving daily enoxaparin 30 mg, peak AFXa levels were assessed for achieving a prophylactic level (0.2-0.5 IU/mL). In 121 patients, the proportion of achieving a prophylactic peak AFXa level was 66.1%. More females (84.8%) achieved a prophylactic level compared to males (54.7%, P = .001). All out-of-range peak AFXa levels (33.9%) were sub-prophylactic. The median peak AFXa level was lower in males (0.24 [0.1-0.47] IU/mL) than females (0.31 [0.1-0.5] IU/mL; P &lt; .001). On univariate analysis, female sex and weight were associated with achieving a prophylactic peak AFXa level. On multivariate analysis, only female sex was independently associated with an adequate prophylactic AFXa level (odds ratio 3.17, 95% CI: 1.32-11.94; P = .014). Four venous thromboembolism events (3.3%) were observed in patients with sub-prophylactic peak AFXa levels (9.7%). Two-thirds of low-weight surgical patients achieved a prophylactic peak AFXa level using daily enoxaparin 30 mg. This dose is likely to provide adequate thromboprophylaxis in low-weight females. </jats:p

Orbital myeloid sarcoma (chloroma): Report of 2 cases and literature review

Purpose: Myeloid sarcoma (MS) of the orbit is an uncommon condition in occurring in children, generally coupled to myeloproliferative neoplasms. Observations: We describe two rare cases of orbital MS in young boys with aggressive local symptoms but without evidence of acute myeloid leukemia (AML), both patients underwent orbitotomy for gross-tumor resection and biopsy. At follow up, there was no evidence of recurrence nor evolution of the myeloproliferative neoplasms clinically and by radiological and laboratory work-up. We also provide a detailed description of the magnetic resonance imaging presentation, with an extensive pathological analysis correlation. Conclusions and importance: A comprehensive revision of the literature on isolated orbital MS was carried out with particular emphasis on clues for differential diagnosis and treatment options, stressing the need to consider MS even in the absence of sign and symptoms of an underlying myeloproliferative disorders

Sugar-Sweetened Beverages Consumption in a Multi-Ethnic Population of Young Men and Association with Sociodemographic Characteristics and Obesity

Sugar-sweetened beverages are frequently consumed among adults and are linked with the incidence of obesity. We aimed to determine rates of weekly and daily sugar-sweetened beverage intake in a multi-ethnic population of young men and their association with sociodemographic characteristics and obesity. This cross-sectional study included 3600 young men who lived in Riyadh, KSA. Participants’ sociodemographic characteristics and frequency of sugar-sweetened beverage consumption were gathered through personal interviews. The outcome variables in this study are based on the weekly and daily consumption of sugar-sweetened beverages. Weight and height were measured following standard protocols. The rates of weekly and daily sugar-sweetened beverage intake by participants were 93.6% and 40.8%, respectively. Nationality was a predictor of weekly and daily consumption of sugar-sweetened beverages. The highest rates of weekly (99.5%) and daily (63.9%) consumption were observed in subjects from the Philippines and Yemen, respectively, while Bangladeshi subjects had the lowest rates of weekly (76.9%) and daily (6.9%) consumption. Obesity was another predictor of sugar-sweetened beverage consumption. Obese participants had a significantly higher odds ratio of weekly sugar-sweetened beverage consumption than non-obese subjects (OR = 4.53, p = 0.037). In conclusion, sugar-sweetened beverage consumption was relatively high and our results support an association between the consumption of sugar-sweetened beverages and certain sociodemographic variables and obesity.</jats:p