Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review.

Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare inherited neurometabolic disorder that can lead to severe physical and developmental impairment. This report includes 16 patients from the Middle East and is the largest series of patients with confirmed AADC deficiency from this region reported to date. The patients displayed a range of signs and symptoms at presentation and almost all failed to reach major motor milestones. Missed and delayed diagnoses were common leading to the late introduction of targeted treatments. Eight unique variants were identified in the DDC gene, including six missense and two intronic variants. A previously undescribed variant was identified: an intronic variant between exons 13 and 14 (c.1243-10A>G). The patients were mostly treated with currently recommended medications, including dopamine agonists, vitamin B6, and monoamine oxidase inhibitors. One patient responded well, but treatment outcomes were otherwise mostly limited to mild symptomatic improvements. Five patients had died by the time of data collection, confirming that the condition is associated with premature mortality. There is an urgent need for earlier diagnosis, particularly given the potential for gene therapy as a transformative treatment for AADC deficiency when provided at an early age.  Conclusions: Delays in the diagnosis of AADC deficiency are common. There is an urgent need for earlier diagnosis, particularly given the potential for gene therapy as a transformative treatment for AADC deficiency when provided at an early age. What is Known: • Aromatic L-amino acid decarboxylase deficiency is a rare neurometabolic disorder that can lead to severe physical and developmental impairment. • Currently recommended medications provide mostly mild symptomatic improvements. What is New: • The clinical presentation of sixteen patients with confirmed AADC deficiency varied considerably and almost all failed to reach major motor milestones. • There is an urgent need for earlier diagnosis, given the potential for gene therapy as a transformative treatment for AADC deficiency when provided at an early age.

Association Between COVID-19 Vaccination and Abortion: A Cross-Sectional Study in Jeddah.

BACKGROUND: Clinical trials for COVID-19 vaccines initially excluded pregnant women. However, observational studies revealed a relative safety of the vaccine during pregnancy therefore association between different types of COVID-19 vaccination and the risk of abortion must be studied.  Objectives: The objective is to explore the possible association between abortion and different types of COVID-19 vaccination in Jeddah. METHODS: This was a retrospective cross-sectional study done in three private general hospitals in Jeddah using electronic medical records and phone interviews of pregnant women who were admitted with abortion. Women were then interviewed for their vaccination data (type, dose) and their current pregnancy outcome (aborted or not). RESULTS: Medical records of 214 women diagnosed with abortion were included; 13.1% of them managed to continue their pregnancy. Vaccinated women (86%) had significantly earlier gestational age (p=0.031), higher hypertension (<0.001), and lower positive consanguinity (<0.001) compared to non-vaccinated women. The type (p=0.636) and number (p=0.331) of vaccination did not differ significantly among vaccinated women with and without abortion. Significant predictors of abortion were age>35 years (OR: 3.1, 95% CI: 1.34-6.97, p=0.008), diabetes (OR: 0.09, 95% CI: 0.01-0.89, p=0.040), and positive consanguinity (OR: 0.12, 95% CI: 0.02-0.63, p=0.012). However, spontaneous abortion did not have an increased odds of exposure to COVID-19 vaccines (OR: 1.07, 95% CI: 0.21-5.49, p=0.937). CONCLUSION:  COVID-19 vaccination is not associated with an increased risk of abortion in women vaccinated during their first or second trimesters. Further clinical trials are needed to support the evidence of the safety of early vaccination of pregnant women.

Awareness of Appendectomy and Its Complications Among Saudis.

BACKGROUND: Acute appendicitis is one of the most common surgical causes of acute abdominal pain in adults and children in the emergency department. It is treated by appendectomy by either an open or laparoscopic approach. Although laparoscopic appendectomy has been used for the last 35 years, there are still indications for an open approach in some cases. OBJECTIVES:  The aim of this study was to explore the awareness of the general population in Saudi Arabia of appendectomy according to the surgical approach. METHODS: A cross-sectional survey using a questionnaire constructed by an expert based on Google Forms (Google, Mountain View, CA) was used from February to March 2022. Variables were demographical data, general knowledge, history of appendectomy, its surgical approach, and postoperative complications, if any. RESULTS: The study included 162 participants. The awareness level of acute appendicitis was high (72.2%). History of appendectomy was almost 30% and was significantly more common in males than females (p = 0.045). The rate of postoperative complications showed a significant difference between open (4.3%) vs. laparoscopic approaches (8%) (p = 0.001). CONCLUSION:  Young, educated Saudis are aware of the importance of surgical intervention for acute appendicitis. However, further hospital-based studies are recommended concerning the role of the surgical approach and its various impacts on postoperative complications.

The Awareness of Pregnant Patient about Effect of Antibiotics in Pregnancy.

BACKGROUND: Medication during pregnancy should be prescribed under caution as some medication has adverse effects on fetus health and they may be teratogenic. Antibiotics are widely used in pregnancy as a result of infections, adding that many pregnant women may administrate antibiotic without doctors' prescription. It is very important to assess the awareness of females about the effect of antibiotics during the pregnancy period. AIM: The aim of the study is to assess the awareness of pregnant patient about effect of antibiotics in pregnancy. SUBJECTS AND METHODS: This study is cross-sectional study which was conducted in 2017 from September to October. Data were collected using interviewing questionnaire which investigated several variables including sociodemographics, clinical examination, clinical history, and clinical measurements. RESULTS: Education and economic levels significantly affected the knowledge about reason for using antibiotic (P = 0.006, 0.002), using of antibiotic against what (P = 0.005, 0.000), education level affected the knowledge about the using of antibiotic without doctors' prescription (P = 0.01), and while economic level influenced knowledge about the effect of antibiotic (P = 0.01). CONCLUSION: There was good level of knowledge about using of antibiotic during pregnancy among females which was affected by economic and education levels.