Mutations in the ciliary transport gene IFT140 cause syndromic congenital retinal dystrophy.

Early-onset, severe retinal dystrophy can be isolated or syndromic, presenting as part of an underlying systemic disease. Mainzer-Saldino syndrome, a rare systemic ciliopathy characterized by skeletal and renal disease, is caused by recessive mutations in the intraflagellar transport 140 chlamydomonas homologue (IFT140) gene. We present a series of 13 cases of early-onset retinal dysfunction with confirmed IFT140 mutations from 8 unrelated Saudi families belonging to 3 well-known tribes.

A Giant Eyelid Molluscum Contagiosum Revealing an HIV Infection: A Case Report and Literature Review.

Molluscum contagiosum (MC) is a common benign cutaneous viral infection. It can affect any part of the skin with a high propensity for facial skin, especially in human immunodeficiency virus (HIV) patients with low CD4 count. We report a case of a 16-year-old female patient who presented with a giant isolated right upper eyelid MC lesion that served as the first clinical indicator of her HIV infection and acquired immunodeficiency syndrome (AIDS).

Influence of Crestal Implant Position and a Smooth Collar on Marginal Bone Level: A 2-Year Retrospective Radiographic Analysis.

This retrospective study evaluated the survival rate and the clinical outcome of an endosseous implant system, as well as the marginal bone level (MBL) and the impact of the machined collar neck position on crestal bone level changes up to 2 years later. A total of 96 implants were placed in 57 patients and loaded with a final restoration after at least 3 months of healing: 15 implants were immediately placed into fresh extraction sockets, and 81 were placed in healed ridges. Marginal bone loss around implants was determined radiographically at 12 to 24 months postloading.

Automated pupillometry in space neuroscience.

Modern pupillometers are automated, thereby providing an objective, accurate, and reliable evaluation of various aspects of the pupillary light reflex at precision levels that were previously unobtainable. There are many gaps in knowledge regarding pupil size and pupillary light reflex in nervous system changes related to space travel given the previous lack of a precise method to quantitatively measure it. Automated pupillometry has not been used previously in space.

Knowledge and attitude toward eye disorders in children among pediatricians and family physicians: a survey study.

Background: Vision-related disorders are common in children. Therefore, eye examination and thorough visual assessment by first-contact physicians are crucial in children. This study aimed to evaluate the knowledge of and attitude toward children's eye disorders among pediatricians and family physicians in the Ministry of National Guard Health Affairs-Western Region (MNGHA-WR) of Saudi Arabia.

Brain Metastases in Adults: A Five-Year Observational Study From King Abdulaziz Medical City.

Background As a well-documented fact, metastatic brain tumors are the most common cause of brain tumors in adults, with an incidence of 9-17%, based on various studies, although it was thought to be higher. The aim of this study was to describe recorded cases of metastatic brain tumors in the adult population of a tertiary care and oncology center in Jeddah, Saudi Arabia. Methods This study was conducted at King Abdulaziz Medical City (KAMC) at King Khalid Hospital in Jeddah, Saudi Arabia, including records from January 2016 to December 2020.

A Novel Mutation in the NAGLU (N-Acetyl-Alpha-Glucosaminidase) Gene Associated With Mucopolysaccharidosis Type III-B in a Saudi Girl.

Mucopolysaccharidosis type III-B (MPS III), also known as Sanfilippo syndrome, is a rare autosomal recessive lysosomal storage disease that primarily affects the brain and spinal cord. In this report, we describe the case of an eight-year-old female child who presented to the emergency room with an asthma exacerbation. She had coarse facial features, thick eyebrows, deep-seated eyes, thinning coarse hair, and macrocephaly.

A Case Report of Rickets Due to Severe Nutritional Deficiencies.

A 19-month-old boy presented to the general pediatric clinic with delayed development and multiple nutritional deficiencies, after being exclusively breastfed up to the age of nine months without vitamin D supplementation. Upon examination, imaging studies, and lab tests, the patient was diagnosed with nutritional rickets. The management included supplementation of cholecalciferol, ferrous sulfate, calcium carbonate, and multivitamin drops to support his diet, and was encouraged to follow a healthy balanced diet.

Compliance with contact lens care and factors driving noncompliance in health-care students in Jeddah, Saudi Arabia.

Purpose: This study aimed to assess compliance to contact lens care behaviors and determine common factors influencing noncompliance among a population of university students in Jeddah, Saudi Arabia.

Methods: This is an observational, cross-sectional study in which a previously validated self-administered questionnaire consisting of 12 questions addressing compliance to contact lens wear and care was E-mailed through the university message center.

Results: A total of 388 participants completed the questionnaire.

Bilateral Papilledema and Right Esotropia as an Initial Presentation of Acute Myeloid Leukemia in a Young Girl.

Leukemia is a malignant hematologic neoplastic disease in which acquired mutations and genetic abnormalities in early hematopoietic precursors cause rapid proliferation of white blood cells (WBC). Acute myeloid leukemia (AML), a subtype of leukemia, is a rare form of cancer that typically manifests in adulthood. Symptoms typically arise due to abnormal proliferation of WBC.

Marginal Bone Level and Bone Thickness Reduction in Delayed and Immediate Implant Placement Protocol 6 Months Post-loading: An Observational Clinical Prospective Study.

Objectives: The aim of this prospective study was to assess marginal bone level (MBL), buccal and palatal bone thickness reduction (BTR) around implants in delayed and immediate placement protocols, 6 months after loading.

Materials And Methods: Twenty-four patients were assigned to two treatment groups, and treated with an immediate (Test) or delayed implant placement (Control). Baseline and 6 months post-loading periapical and Cone Beam Computed Tomography radiographs were used to measure mesial, distal, buccal, and palatal MBL change, and buccal and palatal BTR.

Inherited connective tissue diseases highlight macromolecular network interdependences in skin extracellular matrix: a histomorphometric study.

Mutation of just a single extracellular matrix protein, a receptor or enzyme involved in connective tissue metabolism is sufficient to cause systemic pathologies and failure of tissues that are subjected to strong mechanical stresses. Skin histological and computerized image analyses can provide a good qualitative and quantitative indication of these inherited connective tissue diseases. In this study, skin biopsies from young (10 to 25 years) and middle-aged patients (26 to 50 years) suffering from Ehlers-Danlos syndromes (EDS), Marfan syndrome (MS) or pseudoxanthoma elasticum (PXE) were studied after specific staining of both the collagen and elastic networks.

Implant Placement With Graftless Sinus Floor Elevation via the Lateral Approach: A Case Series With 4 Years Post-Loading Radiographical Outcomes and Implant Survival Rate.

The purpose of the present study was to evaluate the radiographical outcomes, survival rate, and amount of bone formation around implants placed during graftless lateral sinus lift approach (GLSLA). Five patients (6 sinus augmentations) were consecutively treated with GLSLA. After Schneiderian membrane elevation and implant insertion, only blood clot was left to fill the new sinus compartment.

Assessment of drug-prescribing perception and practice among dental care providers: a cross-sectional Lebanese study.

Background: Dentists play an essential role in providing high-quality dental care, taking into consideration the clinical context and concomitant medications taken by the patients.

Objective: This study aimed to assess drug-prescribing perception and practices in addition to drug-related educational needs among Lebanese dentists; it also evaluated the need for interprofessional collaboration between dentists and pharmacists.

Methods: An exploratory cross-sectional study using an online questionnaire targeted a sample of dentists from all Lebanese districts.

Implant placement with sinus floor elevation via the lateral approach using only absorbable collagen sponge: 12-month post-loading radiographical outcomes and implant survival rate.

Purpose: The purpose of the present study was to evaluate the radiographical outcomes and survival rate of implants placed during graftless lateral sinus lift approach (GLSLA) using an absorbable collagen sponge.

Materials And Methods: Fourteen patients (14 sinus augmentations) were consecutively treated with GLSLA. After Schneiderian membrane elevation and implant insertion, only collagen sponges were used to fill the new sinus compartment.

Long-Term Follow-up of Iatrogenic Implant Endodontitis: A Case Report.

An undesirable injury of adjacent teeth is one of many accidents that may occur during implant placement. Limited surgical access in a noncooperative patient can induce apical root transection. When endodontic pathosis is identified, root canal treatment is often initiated to prevent implant microbial contamination.

Root Resection and Hemisection Revisited. Part I: A Systematic Review.

Root resection and hemisection is a treatment option for furcated molars, and the prognosis of this technique has been well documented. The aim of the present paper is to systematically review studies examining the survival and/or failure rate of root resection and hemisection and to determine the factors behind the variability in the outcome reported. A Medline (PubMed), Embase, and Google Scholar search was undertaken, looking for articles published up to September 2016.

Root Resection and Hemisection Revisited. Part II: A Retrospective Analysis of 195 Treated Patients with Up to 40 Years of Follow-up.

Root resection and hemisection is a well-documented treatment option for extending the life span of furcated molars. The aim of the present study was to retrospectively evaluate the long-term results of root resection and hemisection of 195 patients with up to 40 years of follow-up. Records of 195 patients who had undergone root resection or hemisection were reviewed.

Effect of Primary Stability and Soft- and Hard-Tissue Thickness on Marginal Bone Loss: A Prospective Pilot Study.

Objective: To compare prospectively the effect of different insertion torques (ITs) on marginal bone stability and study the effect of soft-tissue and buccal bone thickness as confounding factors while using a 3-dimensional radiographic evaluation.

Materials And Methods: Thirty-nine implants were placed in 22 patients. IT, soft-tissue thickness, and buccal bone thickness were recorded at implant placement.

Standard Drilling Versus Ultrasonic Implant Site Preparation: A Clinical Study at 4 Weeks After Insertion of Conical Implants.

Objective: Clinically evaluate implants placed after ultrasonic implant site preparation (UISP) and standard drilling (SD).

Materials And Methods: Ten patients received 21 implants placed using UISP (n = 11) or SD (n = 10). Bone quality was hand assessed and final insertion torque (IT), resonance frequency analysis (ISQ) at baseline and ISQ, and removal torque values (RTV) at 4 weeks were recorded and compared.

Effect of Intraoral Aging on Debris Accumulation and Friction of First Molar Tubes.

Aim: The aim of this article was to evaluate the impact of intraoral aging and site specificity on debris accumulation and friction in molar tubes after intraoral use.

Materials And Methods: A total of 80 intraorally used first molar convertible tubes were provided by 20 orthodontic adolescent patients after 6 months of treatment. The specimens were divided into eight groups (n = 10) according to the mouth quadrant and the type of examination [four groups of ten tubes for scanning electron microscope (SEM) and four groups of ten tubes for friction test].

Buccal Bone Thickness Overlying Maxillary Anterior Teeth: A Clinical and Radiographic Prospective Human Study.

Objectives: The aim of this work was to measure the facial bone thickness overlying maxillary anterior teeth according to the periodontal biotype, the tooth position, and the bucco-palatal inclination of the tooth.

Materials And Methods: CBCTs of 47 patients were included. The periodontal biotype and the bucco-palatal inclination were examined for all maxillary anterior teeth as well as the sagittal tooth position according to the classification of Kan et al.

Changes in Sinus Membrane Thickness After Lateral Sinus Floor Elevation: A Radiographic Study.

Purpose: To radiographically monitor sinus membrane swelling after lateral sinus floor elevation surgery at short and long healing periods.

Materials And Methods: For 26 patients seeking posterior maxillary implant-supported reconstruction, 32 lateral sinus floor elevations were performed using Piezosurgery. Sinus membranes were grafted using synthetic calcium phosphate bone substitutes, and graft volume was measured in cubic centimeters for each case.

Resonance frequency analysis, insertion torque, and bone to implant contact of 4 implant surfaces: comparison and correlation study in sheep.

Introduction: Primary stability is evaluated using resonance frequency analysis (RFA) and insertion torque (IT). Although there is a strong correlation between RFA and IT, studies failed to find a correlation between RFA and bone to implant contact (BIC) or IT and BIC.

Objective: To compare RFA, IT, and BIC of SLA, SLActive, Euroteknika, and TiUnite implant surfaces and evaluate the correlation between them.

Comparison of morbidity and complications of harvesting bone from the iliac crest and calvarium: a retrospective study.

Background: The aim of this retrospective clinical study was to compare the complications after the harvest of bone from the iliac crest and the calvarium.

Materials And Methods: One hundred and eighty patients were selected for this study (125 iliac crest and 55 calvarium donor sites). Data were collected from the medical records and classified as major or minor complications for each procedure.