How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype.

Here we report the case of a young boy with developmental delay, thin sparse hair, early closure of the anterior fontanel, bilateral choanal atresia, brachyturicephaly; and dysmorphic features closely resembling those seen in trichorhinophalangeal syndrome (TRPS). These features include sparse hair, sparse lateral eyebrows, a bulbous pear shaped nose, a long philtrum, thin lips, small/hypoplastic nails, pes planovalgus; bilateral cone-shaped epiphyses at the proximal 5th phalanx, slender long bones, coxa valga, mild scoliosis, and delayed bone age. Given that TRPS had been excluded by a thorough genetic analysis, whole exome sequencing was performed and a heterozygous likely pathogenic variant was identified in the FBXO11 gene (NM_001190274.2: c.1781A > G; p. His594Arg), confirming the diagnosis of the newly individualized IDDFBA syndrome: Intellectual Developmental Disorder, dysmorphic Facies, and Behavioral Abnormalities (OMIM# 618,089). Our findings further delineate the clinical spectrum linked to FBXO11 and highlight the importance of investigating further cases with mutations in this gene to establish a potential genotype-phenotype correlation.

Anal leiomyosarcoma: A case report and review of literature.

INTRODUCTION: Leiomyosarcoma is a malignant neoplasm that is derived from smooth muscle cells in walls of small blood vessels or branch of the inferior vena cava, the uterus and the gastrointestinal tract. Different treatment options are present for the treatment of LMS. However, due to the rarity of LMS, the optimal treatment option is still to be discussed and determined. PRESENTATION OF CASE: A 51-year-old male patient, previously healthy, presented for perianal pain. Biopsy of the mass found showed spindle cell tumors with mild atypia, dense cellularity, and pelvic MRI with contrast showed a well-circumscribed mass of the anus, developed between the layers of the external sphincter with possible invasion of the internal sphincter consistent with Leiomyosarcoma Grade I. Wide excision was performed. Close follow-up should be done every 3 to 6 months for the first 2 to 3 years, every 6 to 12 months for the following 3 years, and annually afterwards. DISCUSSION: The symptoms of LMS include rectal bleeding with rectal and/or abdominal pain, weight loss, constipation, altered bowel motion and protruding mass. Treatment options include wide local excision, abdominoperineal resection, low anterior resection, bloc resection and pelvic exenteration. Patients who underwent wide local excision show a higher local recurrence rate as compared to patients who underwent radical resection. Distant metastasis is higher in patients who underwent radical resection. CONCLUSION: The treatment options of anal LMS are controversial. At present, very few cases have been reported, thus no universally accepted standard of surgical treatment has been established.

Effect of COVID-19 vaccinations on menstrual cycle and postmenopausal bleeding among health care workers: A cross-sectional study.

OBJECTIVE: To determine the effect of coronavirus disease 2019 (COVID-19) vaccination and its association with sociodemographic factors on the menstrual cycle in premenopausal women and on postmenopausal bleeding. METHODS: This is a retrospective cross-sectional study conducted between September 22, 2022, and November 30, 2022, via a questionnaire distributed to 359 health care workers (HCWs) at Lebanese American University Medical Center-Rizk Hospital and St John's Hospital. Inclusion criteria included female Lebanese HCWs who were vaccinated and aged 18 to 65 years. RESULTS: Change in cycle length was significantly associated with age (P = 0.025 after the first dose and P = 0.017 after the second dose), level of education (P = 0.013 after the first dose and P = 0.012 after the second dose), and fibroids (P = 0.006 after the second dose and P = 0.003 after the third dose). The change in cycle flow was significantly associated with age (P = 0.028), fibroids (P = 0.002 after the second dose and P = 0.002 after the third dose), bleeding disorders (P = 0.000), and chronic medications (P = 0.007). The change in symptoms was associated with polycystic ovary syndrome (P = 0.021), chronic medications (P = 0.019 after the second dose and P = 0.045 after the third dose), and fibroids (P = 0.000). CONCLUSION: COVID-19 vaccination can influence the menstrual cycle. Age, body mass index, level of education, underlying comorbidities, and use of chronic medications are significantly associated with changes in menstrual length, flow, and symptoms following vaccination.

Tooth wear and socioeconomic status in childhood and adulthood: Findings from a systematic review and meta-analysis of observational studies.

OBJECTIVES: To evaluate the association and level of evidence between socioeconomic status (SES) and tooth wear (TW) in children, adolescents, and adults. DATA: Eligibility criteria comprised population-based observational studies assessing the association between SES and TW in permanent dentition of adolescents and adults. Interventional and descriptive studies or those without an internal comparison between exposed and nonexposed groups were excluded. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were applied where applicable. Risk of bias (RoB) was assessed using the Newcastle-Ottawa scale. Meta-analyses were conducted to estimate the pooled effect measures. Q-statistic, I2statistic, subgroup and sensitivity analyses assessed study heterogeneity. SOURCES: PubMed/Medline, Embase, Scopus, Web of Science, LILACS, SciELO, Cochrane Library, and Google Scholar databases were searched for articles published in English between 1st January 1980 and 31st March 2021. RESULTS: Sixty-five studies were included, involving 63,893 participants in over 30 countries. A positive association was found between TW and education (OR=1.25 [0.96; 1.62]), family income (OR=1.18 [0.91; 1.53]), and private school (OR= 1.24 [0.90; 1.72]) among adolescents. Higher educated adults had a lower risk for TW (OR=0.70 [0.52; 0.93]). Most included studies had a moderate RoB. Limitations relating to population representation and assessment methodologies were identified in the included studies. CONCLUSIONS: SES was associated with TW with its direction depending on the individuals' age. The overall quality of evidence was moderate. CLINICAL SIGNIFICANC: SES should be included as part of the routine screening and risk assessment for tooth wear.

Dose-response of intravenous calcium in the surgical intensive care unit.

Background Hypocalcemia is common in patients admitted to the surgical intensive care unit and is associated with increased morbidity and mortality. Current dosing strategies do not always achieve ionized calcium (iCa) normalization, especially in patients with severe hypocalcemia. Objective The purpose of this study was to explore the association between intravenous (IV) calcium dose and change in ionized calcium. Setting Patients admitted to the surgical intensive care unit with concomitant hypocalcemia at a large academic hospital in the United States. Method This single center, retrospective cohort study evaluated the association between IV calcium dose and subsequent change in ionized calcium level in adult surgical intensive care unit patients with hypocalcemia. The primary outcome of this study was to develop a model exploring the association between IV calcium dose and change in iCa levels. Secondary outcomes included describing the average IV calcium dose required to normalize iCa levels, average time to normalization of iCa levels, and assessing the safety of IV calcium replacement. Main outcome measure Change in iCa. Results One hundred and ninety-four patients met study criteria. In the final model initial iCa level, total calcium dose, the interaction between initial iCa level and total calcium dose, age, and pancreatitis remained. The model (R2 = 0.625) is expressed by the following equation: Change in iCa level = 0.462 - 0.011 × [Ca dose] - 0.0007 × [Age] - 0.259 × [Initial iCa] + 0.076 × [initial iCa × Ca dose] - 0.076 × [Pancreatitis]. Removing two patients that received > 10 grams of total calcium improved the R2 to 0.769. Lastly, a simplified model removing age and pancreatitis found a similar R2 of 0.756. Conclusion We observed that change in iCa level after initial calcium dose depended on the baseline iCa. Our full and simplified model excluding two outliers predicted 76.9% and 75.6% of the variation in iCa response, respectively. If validated in other settings this model could be utilized to provide more accurate calcium dosing.

Prospective, multi-centric benchmark study assessing delirium: prevalence, incidence and its correlates in hospitalized elderly Lebanese patients.

BACKGROUND: With the increase in the proportion of elderly Lebanese patients, little is known about delirium's prevalence, incidence and correlated factors. AIMS: To identify the prevalence, incidence and factors associated with overall and incident delirium in hospitalized elderly Lebanese patients. METHODS: A convenient sample was recruited from three university hospitals affiliated to the Lebanese university faculty of medical sciences. We included patients aged more than 65 years. Baseline factors were examined upon presentation and the confusion assessment method (CAM) was used to detect prevalent delirium upon admission or within the first 48 h. Enrolled patients were then assessed every other day to detect incident delirium cases. RESULTS: Among the 230 patients included, delirium prevalence was 17% and incidence 8.7%. We found that a history of falls (odds ratio (OR) = 5.12; p = 0.001), immobilization (OR = 7.33; p = 0.035), polypharmacy (OR = 5.07; p = 0.026) along with tachycardia (OR = 6.94; p = 0.03) and severe anemia (OR = 12.5; p = 0.005) upon admission were significant factors associated with overall delirium (incident and prevalent delirium cases). Whereas, living alone was significantly associated with lower odds for overall delirium (OR = 0.03; p = 0.02). Moreover, current smoking (OR = 14; p = 0.02), low oxygen saturation (OR = 9.6; p = 0.008) and severe anemia (OR = 8.4; p = 0.013) upon admission remained significantly associated with higher odds for incident delirium along with urine catheter placement (OR = 7.8; p = 0.015). CONCLUSION: Secondary to the burden of delirium and its impact on mortality among elderly population, trying to understand and adjust modifiable factors would promote more appropriate prevention strategies.