Meningoencephalitis in a novel mutation in MNGIE (mitochondrial neurogastrointestinal encephalomyopathy) ending a familial diagnostic odyssey: A case series report.

MNGIE (Mitochondrial Neurogastrointestinal Encephalomyopathy) is an ultra-rare autosomal recessive disorder that leads to mutations in the nuclear genes encoding thymidine phosphorylase. Symptoms include gastrointestinal dysmotility, cachexia, ptosis, external ophthalmoplegia, sensorimotor neuropathy and asymptomatic leukoencephalopathy. We describe the first case of MNGIE with meningoencephalitis that ultimately led to a familial diagnosis ending a diagnostic odyssey. We retrospectively reviewed the electronic medical records and sent whole exome sequencing for the index case and his family members. We report the variant c.877T>C p.(Cys293Arg) found in TYMP gene in all affected siblings showed typical clinical manifestations related to MNGIE. To the best of our knowledge, this is not described in the literature nor in the population databases dbSNP (Single Nucleotide Polymorphism Database) and gnomAD (Genome Aggregation Database). Additionally, it is located in a highly conserved residue and the bioinformatic analysis suggests it is most probably deleterious. Moreover, we estimated 550 number of cases of MNGIE (including 5 cases in this study) after performing an extensive search in the literature across 3 databases from 1983-2023. In addition, we identified 44 patients with MNGIE-like phenotype in genes other than TYMP. MNGIE-like phenotype affects POLG1, RRM2B, LIG3, RRM1, MTTV1, and MT-RNR1 genes.

A rare neurological presentation unravels a family's medical mystery after years of no diagnosis: MNGIE is a rare disease caused by changes in a gene that cause deficiency in an enzyme called thymidine phosphorylase. Patients complain of significant weight loss, tingling and numbness in their extremities, muscle weakness, digestive issues and drooping eyelids. We encountered a patient with symptoms and signs of inflammation of the brain and it's protective lining. However, laboratory tests were inconclusive whilst his condition kept deteriorating. A genetic analysis revealed a new mutation not described in the literature before. This has also helped to diagnose the entire family after years of not receiving an answer regarding their symptoms. We also found 550 cases of MNGIE published in the scientific literature from 1983 to 2023. This case highlights the importance of taking a family's entire family history and genetic testing to solve complex medical cases.

Successful management strategy for giant primary hepatic rhabdomyosarcoma in 15-year-old male: a case report.

Primary hepatic rhabdomyosarcoma is an exceedingly rare type of sarcomas. A 15-year-old boy was admitted to the hospital with abdominal pain. Serial investigation showed a giant heterogeneous mass, with a diameter of 15 cm, located in the right lobe of the liver (segment 4a, 4b, 5, 6, 7, 8), with clear margins, non-homogeneous density in computerized tomography and the Positron Emission Tomography Scan Multi Slice revealed a peripherally slightly metabolically active hepatic mass (205 × 134 × 208 mm). Histopathological examination and the Immunohistochemical showed embryonal rhabdomyosarcoma. The management strategy involved multiple cycles of ifosfamide and doxorubicin and monitoring the tumor size, until the tumor size was suitable for the surgery. The management of hepatic rhabdomyosarcoma is a surgical challenge due to the late onset of symptoms, a limited number of reported cases, and poor prognosis. Surgical excision is the treatment of choice for primary hepatic rhabdomyosarcoma and combination between chemotherapy, surgery showed good results.

The success rate of mini-screws for incisors intrusion and patient age, gender, and insertion angle in the maxilla using CBCT and implant-guided surgery. A split-mouth, randomized control trail.

BACKGROUND AND OBJECTIVES: The intrusion of anterior teeth is a routine procedure in orthodontics, which has been performed efficiently with the help of mini-screws in the anterior region, especially the upper maxilla. This study aimed to investigate the effect of insertion angle and sociodemographic features on the success rate of mini-screws at the anterior maxillary region. MATERIALS AND METHODS: Twenty-nine patients (18 Females and 11 Males) aged 18-40 years old were involved in the current study. A split-mouth design was carried out in which recruited patients needed bilateral anterior screws at the labial bone in the region of the incisor for the intrusion of upper anterior incisor teeth as part of their orthodontic treatment with a fixed appliance (upper right side received 90-degree insertion angle mini-screw and 45° for left side) using a surgical guide fabricated from patients CBCT and intraoral scans. The mini-screws were inserted at the attached gingiva bilaterally to achieve intrusion of upper anterior teeth with a power chain ligated from the main archwire to the anterior min-implants. The patient was recalled monthly for orthodontic appliance activation and screw assessment for 6 months. The intrusion force was 15 g on each side. RESULTS: The results of the study showed that screw stability was higher in the male group than the female group at the 6th monthly follow-up visit with a statistically significant difference between both genders (P = .044). Concerning insertion angle, results showed a statistically significant difference between 45° and 90° as an insertion angle with a P-value <.01 in most of the follow-up months. CONCLUSION: This study found that male patients with mini-screws inserted at 90° showed greater screw stability over time.

Unobstructed infracardiac total anomalous pulmonary venous connection in a 7-month-old infant: A rare case report.

Key Clinical Message: This case underscores the importance of early detection and treatment for total anomalous pulmonary venous connection, a rare congenital heart condition, through comprehensive newborn physical exams and prompt specialist referrals. Abstract: Total anomalous pulmonary venous connection (TAPVC) is a rare form of congenital heart disease that is typically diagnosed in neonates. TAPVC has four subtypes, with the infracardiac type at risk of obstruction. TAPVC is usually diagnosed in newborns but can occur in other age groups. In this case, a 7-month-old male with recurrent cyanotic episodes was diagnosed with TAPVC of the infracardiac type using computed tomography angiography. The patient underwent successful surgical repair with a favorable postoperative course and was discharged in stable condition, and further follow-up was not possible beyond 2 months. This case emphasizes the importance of early recognition and management of this condition to prevent the progression of subsequent complications.

Things are not what they seem neurologically and radiologically: An apt descriptor for spinal dural arteriovenous fistula (SDAVF).

Spinal dural arteriovenous fistulas (SDAVF) are the most common vascular malformations affecting the spinal cord. It is infrequently encountered in clinical practice and is believed to be acquired, predominantly affecting middle-aged and elderly men with unknown etiology. It is usually misdiagnosed despite presenting with conventional clinical findings and radiological features. Insidious onset of myelopathic findings is seen in addition to pathognomonic findings of cord edema and intrathecal flow voids on MRI. We present a case of SDAVF that was missed by the treating orthopedic surgeon and underwent spinal decompression with subsequent persistence of myelopathic symptoms. Angiography is required to confirm the diagnosis location of the fistula. Treatment is with embolization using liquid embolic agents or surgical through ligation of the draining vein. Endovascular techniques are minimally invasive, safe, and effective. Knowledge of the characteristics and advantages/disadvantages of each agent helps in planning and appropriate selection of agents for the patient. We report successful embolization with improved clinical outcomes for the patient using precipitating hydrophobic injectable liquid (PHIL) embolic agent. The outcome and prognosis of SDAVF depend on the duration of symptoms, severity of neurological symptoms, and successful occlusion of the fistulous draining vein. Awareness of this rare condition amongst clinicians and radiologists, would enable an earlier diagnosis and avoid morbid outcomes of this treatable condition.

The Effects of Vaccines on the Sequelae Rates of Recurrent Infections and the Severity of Pulmonary COVID-19 Infection by Imaging.

Although vaccines have been shown to reduce the number of COVID-19 infection cases significantly, vaccine-related reactions, long COVID-19 syndrome, and COVID-19 infection following vaccination continue to be a burden on healthcare services and warrant further scientific research. The purpose of this study was to research the severity of pulmonary COVID-19 infection following vaccination and the sequelae rates of recurrent infections in vaccinated cases by imaging. Patients who underwent follow-up CTs at 1 month, 3 months, and 6 months in our hospital with a diagnosis of COVID-19 were scanned retrospectively. Furthermore, all essential information was gathered from patients' immunization records. The major findings of our study were: (1) sequelae were frequently observed in unvaccinated cases; (2) the correlation between vaccination status and the severity of sequelae was significant; (3) there was not any significant relationship between the vaccine type and the severity of sequelae; and (4) hematocrit, hemoglobin, and lymphocyte parameters may be used as predictors of sequelae rates. COVID-19 infection, although reduced in prevalence following the development of vaccines, still remains a public health concern because of reinfection. Vaccination not only appears to protect against primary infection, but also seems to reduce reinfection and sequalae rates following reinfection.

Konno-Rastan Operation in a Patient With Dextrocardia and Situs Inversus.

The Konno-Rastan operation is performed for relief of complex left ventricular outflow obstruction with a small aortic annulus. When associated with situs inversus and dextrocardia, important aspects should be kept in mind due to the mirror-image anatomy. In this report, we present a case of a 10-year-old child with the diagnosis of recurrent diffuse subaortic stenosis and situs inversus and dextrocardia who underwent the Konno-Rastan operation successfully and was asymptomatic with normal physical activity after a follow-up period of one year.

Interdisciplinary orthodontics-implants management of a challenging hypodontia case complicated by a class II division 2, bimaxillary retroclination.

INTRODUCTION: The case in this study had moderate hypodontia, with both lower lateral incisors and the lower-left second premolar missing. A Class II division 2 relationship with severe crowding in the upper arch and a traumatic deep bite over a skeletal I base complicated the occlusion. MATERIALS AND METHODS: The plan was to extract the upper first premolars to relieve upper arch crowding and the lower-left impacted second premolar to preserve the bilateral class I molar relationship. A class I occlusal relationship was achieved through space opening in the lower lateral incisors region and space closure in the upper and lower premolars regions. RESULTS: The use of orthodontic screws for bite opening and anterior segment retraction, in conjunction with bi-metric slot size selection in bracket prescription, was effective in controlling incisor inclination and interincisal angle. The use of an implant fixture before beginning the finishing stage allowed for a reduction in total treatment time and facilitated the provision of the final prosthesis before debonding the case. As a result, the patient was able to receive a satisfactory occlusion on the day of debonding. CONCLUSION: This case of moderate hypodontia was successfully resolved by combining space closure and space opening effectively. To solve the arch problems in such Class II division 2 cases with severe crowding, extractions were required. To complete the case, this was combined with intrusive and retractive mechanics. In hypodontia cases, implants are an excellent choice for both aesthetics and functional restoration.

MH-SETUP, combining Kesling wax-setup with indirect bonding and custom-made brackets for labial/lingual techniques to eliminate the finishing phase.

OBJECTIVE: A novel technique, named the MH setup (MH is an abbreviation for the author's name), was developed to provide an accurate yet simplified method to produce custom-made brackets without bonding errors. This setup aimed to simplify the treatment and eliminate the finishing phase, so that the orthodontist was able to provide better care with less time and lower costs. MATERIALS AND METHODS: The setup was performed in two major steps: direct bonding on the cast followed by cutting and setting the teeth into precise positions using brackets. The first set of brackets, bonded directly onto casts, oriented the teeth by setting them ideally into wax rims with full control over first-, second-, and third-order bends. The fully engaged archwire used allowed for precise control over the arch symmetry and form. Setting teeth in wax allowed the clinician to refine the occlusion and correct any minor errors that arose during the initial bonding. The second set of brackets, mounted on the fully engaged archwire, featured custom-made composite bases. The transfer tray combined the benefits of its soft inner and hard outer layers, providing control over bonding and later ease of peeling from the brackets. RESULTS: The patient was satisfied with a full bonding procedure lasting 15 min that remained simple without unnecessary stress. The clinician was confident that the procedure allowed the precise positioning of brackets and simple bonding for all teeth in the arch, combined with the elimination of the finishing phase. CONCLUSION: The MH technique offered a simple, precise, and inexpensive improvement to the Kesling wax setup. The process allowed for precise bonding without errors or expensive armamentarium. The brackets were transformed into custom-made prescriptions and could be used with labial or lingual techniques. The method allowed for teeth addition, trimming, or overcorrection according to the clinician's preferences. The MH setup facilitated visualization of the treatment objectives with precise locations and the opportunity to revise the treatment plan or to discuss further options with the patient.

Alveolar bone exostoses following orthodontic treatment. Diagnostic considerations and clinical management.

Alveolar bone exostoses (ABE) are benign localized convex outgrowths of buccal or lingual bone, which could be delineated from the surrounding cortical plate, also known as a buttress bone formation. Our review and case series demonstrate the development of alveolar bone exostoses during orthodontic therapy. It is crucial to keep in mind that every case presented had a history of palatal tori. In our clinical observations, higher precedence of ABE development was seen in participants during incisor retraction, especially with preexisting palatal tori. Additionally, we have successfully demonstrated surgical techniques to eliminate ABE in the event that self-remission does not occur once orthodontic forces are discontinued.

Evaluation of the Association between Single Nucleotide Polymorphisms of Metabolizing Enzymes with the Serum Concentration of Paracetamol and Its Metabolites.

Intravenous paracetamol is a commonly administered analgesic and antipyretic in inpatient settings. Paracetamol is metabolized by cytochrome P450 (CYP) enzymes followed by conjugating enzymes to mainly glucuronide but to a lesser extent, sulphate metabolites, and oxidative metabolites. Single nucleotide polymorphisms (SNPs) in the CYP enzymes result in modified enzymatic activity. The present study was carried out to evaluate the prevalence of SNPs related to paracetamol metabolism and principal metabolites in critically ill patients, and those with chronic kidney disease. The present study is a cross-sectional study carried out in adults (>21 years) requiring intravenous paracetamol as part of their standard of care. Details regarding their demographics, and renal and liver function tests were collected. Blood was withdrawn for the analysis of paracetamol and their metabolites, and the SNPs of key CYP enzymes. Paracetamol/paracetamol glucuronide (P/PG), paracetamol/paracetamol sulphate (P/PS) and PG/PS were estimated. Acute liver injury (ALI) and renal dysfunction were defined using standard definitions. We observed a significant prevalence of SNPs in CYP1A2*1C, CYP3A4*3, CYP1A2*1K, CYP1A2*6, CYP2D6*10, and CYP2E1*2 amongst the 150 study participants. Those with CYP1A2*6 (CC genotype) were observed with significantly lower PG and PS concentrations, and a higher P/PS ratio; CYP2D6*10 (1/1 genotype) with a significantly lower PG concentration and a higher P/PG ratio; and CYP1A2*1K (CC genotype) was observed with a significantly higher PG/PS ratio. Good predictive accuracies were observed for determining the SNPs with the cut-off concentration of 0.29 µM for PS in determining CYP1A2*1K, 0.39 µM for PG and 0.32 µM for PS in determining CYP1A2*6 genotype, and 0.29 µM for PG in determining the CYP2D6*10 genotype. Patients with renal dysfunction were observed with significantly greater concentrations of paracetamol, PG and P/PS, and PG/PS ratios, with a lower concentration of PS. No significant differences were observed in any of the metabolites or metabolite ratios in patients with ALI. We have elucidated the prevalence of key CYP enzymes involved in acetaminophen metabolism in our population. Alterations in the metabolite concentrations and metabolic ratios were observed with SNPs, and in patients with renal dysfunction. Population toxicokinetic studies elucidating the dose-response relationship are essential to understand the optimized dose in this sub-population.

MH cortical screws, a revolutionary orthodontic TADs design.

OBJECTIVE: MH cortical screws were designed to combine the advantages of thick mini-implants with the versatility of micro-screws while avoiding the disadvantages of both. MATERIALS AND METHODS: An MH cortical screw (MH is an abbreviation for the author's name) was made from titanium material. The screw has a 3 mm-long amphora-shaped shank of 2 mm thickness at its thinnest and 3 mm at its thickest part. Uniform 4 mm diameter threads blend into a 1 mm cutting tip. An external hexagonal head with side retentive ligature holes and a central hole for attachments was fabricated on a saucer-shaped gingival collar. Multiple attachments have been prepared for amending to the central hole. RESULTS: The shank design allowed cortical plate retention. The uniform threads and the amphora design provided maximum primary and secondary stability, respectively. The self-drilling tip allowed for a flapless technique, while the hexagonal head with side holes facilitated screwdriver control and allows for ligature wire anchorage. Cleats and buttons facilitated the use of elastics and springs, together with bracket-heads and eyelets for titanium molybdenum alloy and nickel-titanium wires inclusion. Adjustable hooks and chains provided versatility of line of action. Cover screws to retain extra-tissue mini-plates applied skeletal anchorage and long-term retention with flapless manipulations. CONCLUSION: MH cortical screws are a novel and important introduction to orthodontic anchorage. They combine primary and secondary stability with avoidance of root damage together with insertions into attached gingiva only. Multiple and versatile attachments allow for the application of biomechanical techniques according to the clinician's preferences. Extra-tissue mini-plates facilitate maximum anchorage for skeletal control and long-term retention without surgery.

Factors That Guide the Diagnosis and Treatment Planning for Impacted Canines Using Three-Dimensional Cone-Beam Computed Tomography: A Cross-Sectional Study.

Objective: Impacted canines are one of the significant challenges in orthodontics that should be appropriately assessed to provide the best treatment to the patients. Materials and Methods: In the present study, 57800 patients were examined over six years to investigate the prevalence, diagnostic procedures, and treatment methodologies for impacted canine cases. Prevalence and diagnosis were tested using history taking, clinical examination, and three-dimensional cone-beam radiographs. The cases were tested for impaction site, gender, age, signs, and symptoms. The groups were classified for impaction location according to Mupparapu's classification. Result: The causative factors and the treatment methodology selected were plotted according to age and gender distribution. The total prevalence was 3.9% of canine impaction cases in relation to the total sample cases. The results showed a strong correlation between the site of impaction toward the upper arch and with distribution following Mupparapu's classification. The pain was the most detectable complication in all age groups, while root resorption was the least. Conclusion: Most of the younger age groups were sent for exposure and orthodontic traction, while the mid-aged groups elected for observation, and follow-up as their primary concern was esthetics. However, the adult patients were into exposure and traction to improve their function.

The MH-WIRE, a novel coil-springe wire system: A prototype design.

OBJACTIVE: The authors introduced a novel wire system aiming to achieve optimal goals of tooth movement without multiple wire changes or sophisticated wire bending. MATERIALS AND METHODS: The system was composed of a single wire for all phases of treatment. The archwire was composed of NiTi coil springs connecting delta-shaped segments of 0.018˝ × 0.025˝ Titanium Molybdenum Alloy (TMA) segments to fit the 0.018˝ × 0.025˝ bracket slot, or 0.022˝ × 0.028˝ TMA segments to fit the 0.022˝ × 0.028˝ bracket slot. The coil spring was closed and packed in design. The coil-spring loops were constructed with 3 mm lumen. The wires were designed in three sagittal forms and the system provided nine forms of archwires. RESULTS: The wire systems have been an important component of treatment since the development of orthodontic science. Over time, the philosophy has evolved from endorsing wire bending to straight-wire treatment and then to custom-made archwires. CONCLUSION: This wire system was designed to be used as a "single-wire for the case" across all stages of treatment to achieve the ideal goals without any biological damage.

Acute kidney injury in critically ill adults: A cross-sectional study.

Background: Wide differences in the estimates of acute kidney injury (AKI) have been reported in studies from various parts of the world. Due to dearth of data from the region, we carried out the present study to assess the incidence and the associated factors for AKI in our critically ill population. Methods: A prospective, observational study in critically ill adults who developed AKI was carried out. The diagnosis of AKI was attained by AKI Network (AKIN) criteria. The key details collected included details related to demographics, APCAHE score, concomitant diagnoses, whether mechanical ventilation was provided or not, radiological findings, drugs with potential nephrotoxicity, requirement of renal replacement therapy (RRT), whether recovered from AKI and time taken for recovery, duration of stay in the intensive care unit, and outcome (died/alive). Results: One hundred patients out of the total 560 with an incidence of 17.9% developed AKI. Forty-five had Stage 1, 22 had Stage 2, and 33 had Stage 3 AKI, and a significantly higher mortality was observed with Stage 3 AKIN Class compared to Stages 1 and 2. Two-thirds of the patients had septic shock, while 29 had contrast-induced nephropathy. Ninety-five patients received at least one drug with potential nephrotoxicity. Sixty-three patients recovered from AKI episodes. Only 29 patients underwent RRT of which 41% died. Conclusion: We observed an incidence of 17.9% for AKI in our critically ill patients. The estimates from this study will serve as a baseline for future studies in the region.

MHM bracket design on the path of Dr Andrews of true straight wire technique, prototype study design.

OBJECTIVE: The authors invented an innovation in the bracket design; that targeted to fulfill the aim of Dr. Andrews for a true straight wire technique. MATERIALS AND METHODS: The use of the ball and socket design together with the ability to relocate the position of the slot in three dimensions enhances the control and precision of individual teeth. RESULTS: The revolutionary bracket eliminated any wire bending in the initial, intermediate or finishing stages of fixed orthodontic treatment. This was achieved together with complete 3D control on individual teeth positions to achieve the finest occlusion for individual patients. CONCLUSIONS: That system allowed for a true straight wire mechanics with no wire bending. The design could be used labially or lingually without the need of indirect bonding techniques. Additionally, any adjustments could be performed intraorally with simple pressure.

TAD's for the Derotation of 90° Rotated Maxillary Bicuspids.

It is undeniable that the advent of extra-alveolar mini-implants for anchorage purposes has revolutionized the field of Orthodontics. This case report sheds light on an innovative anchorage plan using TADs, to carry out treatment for a 15-year-old female patient. The patient reported to the clinic with a chief complaint of rotated second premolars, crowding, and a deep bite. On examination, it was seen that the patient had a Class I skeletal pattern, Class II subdivision molar relationship, 90-degree maxillary second premolar rotations, crowding in both the arches, and a deep bite. In this case, the clinicians decided to use TADs for premolar derotation as it not only provides a pure rotational couple without any deleterious effects on the adjacent teeth but also helps shorten the overall treatment time. The total treatment time for this case was 10 months.

Hibiscus sabdariffa, a Treatment for Uncontrolled Hypertension. Pilot Comparative Intervention.

In Iraq, in 2019, there were about 1.4 million Internally Displaced Persons (IDP); medical treatments were often interrupted. The feasibility of using Hibiscus sabdariffa (HS) decoction to curb hypertension was evaluated. A multicentric comparative pilot intervention for 121 participants with high blood pressure (BP) (≥140/90 mmHg) was conducted. Participants of the intervention group (with or without conventional medication) received HS decoction on a dose regimen starting from 10 grams per day. BP was measured five times over six weeks. The major active substances were chemically quantified. Results: After 6 weeks, 61.8% of participants from the intervention group (n = 76) reached the target BP < 140/90 mmHg, compared to 6.7% in the control group (n = 45). In the intervention group, a mean (±SD) reduction of 23.1 (±11.8) mmHg and 12.0 (±11.2) for systolic and diastolic BP, respectively, was observed, while in the control group the reduction was 4.4 (±10.2)/3.6 (±8.7). The chemical analysis of the starting dose indicated a content of 36 mg of total anthocyanins and 2.13 g of hibiscus acid. The study shows the feasibility of using HS decoction in IDP's problematic framework, as hibiscus is a safe, local, affordable, and culturally accepted food product.

Coronary artery bypass grafting in a 12-year-old girl with familial hypercholesterolemia.

As CABG operation is indicated in children with familial hypercholesterolemia, it seems that bilateral internal thoracic arteries are the preferred grafts, taking into consideration its superiority over venous graft regarding patency and growth.

A Female Hair Clip and Orthodontists' Neck-Back Pain Perception: A Survey.

This study aimed to clarify the effect of large hair clips on patient head posture on the dental chair headrest and its harmful impact on orthodontist body posture and neck-back pain. One hundred orthodontists voluntarily participated in a web-based questionnaire designed and distributed online by using the Google form posted in the Telegram group of Iraqi orthodontists to assess the opinions of orthodontists regarding the effect of a large hair clip on the patient's position on the dental chair and site of pain perception during different stages of orthodontic treatment. Ninety percent of the orthodontists get bothered by the large hair clip. About 92% of the responses preferred their patients to remove the large hair clip; 99% of them responded that the large hair clip does affect the position of the patient's head on the chair's headrest. Eighty-nine percent responded that a large hair clip could disturb the operator during taking intraoral photographs, and 64% disturbed while taking dental impressions. Orthodontists reported that 4% had "back pain," 28% had "neck pain," and 60% had both "back and neck pain" during bonding appointment, while only 8% reported "no pain." Regarding the activation appointments, 4% had "back pain," 26% had "neck pain," and 48% had both, while only 22% reported "no pain." During the debonding appointments, 7% of the respondents had "back pain," 29% had "neck pain," and 44% had both "back and neck pain," yet 20% stated absence of pain. Wearing a hair clip and changing patient position on dental chair and orthodontist posture during different stages of orthodontic work such as bonding, regular recall, and depending on the procedure may be directly related to the neck-back pain perception to an orthodontist.