Articles

Spinal muscular atrophy is an autosomal recessive neuromuscular disorder characterized by progressive muscle weakness and atrophy. It is one of the most common single-gene disorders with an incidence rate of approximately 1 in 10,000 live births. The clinical manifestations are progressive hypotonia and muscle weakness due to the degeneration of alpha neurons in the anterior horn cells of the spinal cord and motor nuclei in the lower brain stem. Depending on the severity of the symptoms, SMA has five subtypes. Supportive measures can be offered for respiratory, gastrointestinal, and musculoskeletal complications. Carrier testing for all couples is recommended and this can be done by Multiplex Ligation-dependent Probe Amplification (MLPA). Prenatal diagnosis can be offered to carrier couples. Therapies must be given within the newborn period for maximum benefit and before the loss of motor neurons. It is achieved by identifying the SMA babies through Newborn screening. Several new FDA-approved drugs can reduce the progression of symptoms in SMA. However, they cannot offer a definite cure. Clinical follow-up and Neurological assessment demonstrate that SMA children can attain developmental milestones after receiving treatment, which is never normally attained in untreated cases. In utero SMA treatment with Zolgensma would enhance the survival rate and favorable neurological outcomes in the future. Base editing and Gene editing with CRISPR-Cas technologies to target the mutations and restore functional and stable SMN protein levels are the future hopes for a permanent cure of SMA.

The authors are searchers in psychopathology and communicate here about the dead wishes in relation to euthanasia. In Europe, the question comes regularly up to know if the law should be changed concerning the prohibition of euthanasia. The health system obeys progressively a modern idea of comfort and the “good life”. The authors are psychotherapists and their methodology is based mainly on phenomenological psychology, psychoanalysis, and psychopathology. Statistics of the French Ministry of Health will support their statements. Different clinical experiences with young patients, aging patients, or near-to-death patients are crossed and compared to those marked by heavy experiences like rape or amputation. The unbearable nature of their suffering makes them ask frequently to stop the pain. They would prefer being dead. This contribution examinates this kind of demand to find a helpful position for the caregiver and the patient. We should consider that near-death patients may often be at the climax of anxiety and depression is likely to switch over to dementia. In asking to finish with life, this purpose may change one day to another – sometimes it just highlights the wish to see things changed. The position of society and the medical staff has a high influence as well. Asking for euthanasia shows the variety of the same words that have different meanings from a medical, psychological, or psychopathological viewpoint. The purpose is to consider these aspects with the patient’s demand.

Stevia is a natural sweetener that has gained attention as a potential sugar substitute for glycemic control and weight management. Extensive research has shown that high sugar consumption is linked to obesity, dental caries, and other health issues. Stevia, derived from the Stevia rebaudiana plant, offers sweetness without calories and has a favorable glycemic profile. Studies have demonstrated its effectiveness in regulating blood glucose levels and reducing overall sugar and caloric intake. Consumer attitudes suggest a positive reception of Stevia as a sugar substitute among health-conscious individuals. However, further research is needed to understand its long-term effects and consumer sentiments. Future investigations should prioritize human clinical trials, targeted studies in diabetic populations, and exploration of Stevia’s interaction with gut microbiota, among other aspects. Stevia shows promise as a health-conscious alternative in glycemic control and weight management.

Background: Prophylactic dental procedures following implant placement are critical to the long-term success of implants and are also dependent on the patient maintaining effective home care.Purpose: Evaluation of the effectiveness of preventive measures in patients with diabetes during long periods after prosthetic treatment with implants.Materials and methods: The study included 62 patients with diabetes with edentulism using 146 dental implants. Patients underwent constant monitoring, including regular occupational hygiene during follow-up examinations. Their frequency was set individually from 2 to 4 times A clinical index including Bleeding on Probing (BOP), Probing Depth (PD), and Marginal Bone Loss (MBL). Results: In patients included in the preventive protocol after 12 months, the mean BOP was 1.4 ± 0.15, and PPD was 2.46 ± 0.42. After 12 months in patients mean MBL was 0.72 ± 0.6 mm, after 3 years MBL was 1.24 ± 0.25 mm. For patients who were excluded from preventive services after 12 months, the mean BOP 1.9 ± 0.25, and the mean PPD was 3.56 ± 0.28). After 12 months in patients mean MBL was 0.87 ± 0.7 mm, after 3 years MBL was 1.52 ± 0.32 mm (p > 05). Compared to persons enrolled in the preventive protocol, those in the group without services were more likely to develop peri-implantitis (42.4% vs. 12,6%). The survival rate of implants after 3 years was 98.4%. The survival rate of implants in those patients who were excluded from preventive services after 3 years was 95.4%.Conclusion: For patients with diabetes, regular medical examinations, accompanied by professional oral hygiene procedures, prevent the development of negative reactions of the soft tissues surrounding the implant.

A 43-year-old man presented to the emergency department with syncope following hematemesis. He gave the history of melena for 3 days.

The incidence of heart failure with preserved ejection fraction (HFpEF) continues to rise, and obesity continues to be a predominant comorbid condition affecting patients with HFpEF. Recent research sheds light on the important pathophysiologic role that obesity plays in the development of HFpEF, with many areas of opportunity existing for future developments in understanding the etiology and management of the disease. Crucial in these pathophysiologic developments are studies that clearly characterize the obesity phenotype in HFpEF and compare it to presentations of HFpEF in patients without obesity. This paper reviews the existing literature on the obesity phenotype within HFpEF and discusses some of the prevailing ideas behind the pathophysiologic interplay between the conditions, as well as the existing treatments demonstrating improved outcomes in HFpEF.

Background: Temporomandibular Disorder (TMD) pain attributed to myalgia is a common condition and patients should get advice on the best treatment option. Objectives: The aim was to evaluate the effect of two different exercise programs, or bite splint therapy, respectively, in patients with chronic frequent primary myofascial orofacial pain. Methods: The study was a randomized clinical trial including patients fulfilling criteria of chronic frequent primary myofascial orofacial pain with a reported pain intensity of ≥ 4 on a numerical rating scale (0-10). Ninety subjects were randomized to either bite splint, home exercises, or a supervised exercise program. Two examiners blinded to the treatment modality examined the same subject at baseline and a 3-month follow-up. Non-parametric statistical methods were applied for the outcome of treatment in intended-to-treat analyses. A P-value <0.05 was considered statistically significant. Results: The pain severity index was significantly reduced (p < 0.001) in all treatment groups. Jaw opening capacity improved significantly (p < 0.05) for those randomized to bite splint and for those in the home exercise program. About 70% of the participants reported improvement in their TMD pain severity with no significant difference between treatments. Both exercise groups improved in jaw function at the 3-month follow-up compared to baseline. Those who had a bite splint reported significantly more improvement in their headaches compared to those in the exercise programs. Conclusion: Jaw exercise programs and bite splint treatments had similar positive effects on TMD pain severity attributed to myalgia after 3 months.

Antibiotic resistance is a growing global crisis, straining healthcare systems and leaving us with limited options to combat drug-resistant bacteria. This retrospective, cross-sectional study examines the prevalence of antibiotic resistance patterns among urinary tract infections (UTIs) in Al-Shifa Hospital’s medical departments in comparison with non-medical departments using data from microbiology laboratory archives over a one-year period. From the examined urine cultures about 25% were obtained from internal medicine departments and double the number was obtained from non-medical departments. The positive rate was around 35% and about two-thirds of the samples were collected from female patients. Among all departments, Enterobacteriaceae spp. were found to be the most frequently isolated uropathogens, accounting for 80% of cases. However, resistance rates varied depending on the specific organism and antibiotic used. For instance, E. coli showed a resistance rate of only 5% against meropenem, while amoxicillin-clavulanic acid exhibited a resistance rate exceeding 95%.Importantly, the study revealed a significant disparity in resistance rates between medical and non-medical departments, specifically concerning third-generation cephalosporins. In internal medicine departments, resistance rates were alarmingly high, with cefotaxime, ceftriaxone, and ceftazidime showing resistance rates of 75%, 75% and 66.5% respectively. In contrast, non-medical departments displayed lower resistance rates, approximately 60%, 60% and 40%, respectively.In summary, this research sheds light on the escalating problem of antibiotic resistance in UTIs and emphasizes the discrepancy in resistance rates between medical and non-medical departments. Urgent efforts are required to address this issue and find effective solutions to prevent the rise of untreatable bacterial infections.

Systemic lupus erythematosus (SLE) is a chronic inflammatory multisystem disorder that commonly affects females during their reproductive years. It is characterized by the presence of autoantibodies and immune complex deposition, the etiology is not known but the interaction of an environmental agent in a genetically susceptible individual is thought to be fundamental. SLE most frequently involves the skin, joints, lungs, heart, kidney, and neuropsychiatric manifestations that may occur during the course of the disease. Mood disorders among SLE patients, particularly depression, are common and important psychiatric manifestations of the disease, in addition to their high incidence and possible deleterious influence on disease progression, so early identification and treatment of depression may have a significant influence on the patient’s quality of life.

We describe the first individual treatment trial with D-mannose in a young girl with PIGV-CDG. PIGV-CDG belongs to the GPI anchor deficiencies leading to intellectual disability, dysmorphic features, epilepsy, and, less frequently, organ malformations. A hallmark of the GPI anchor deficiencies is the elevated serum alkaline phosphatase (AP). Our patient carried the germline homozygous PIGV variant c.1022C>A, p. (Ala341Glu), the most commonly reported pathogenic variant leading to PIGV-CDG so far. We aimed to improve the impaired enzymatic function of PIGV through elevated substrate levels by giving D-mannose orally. We monitored the clinical status, developmental progress as well as serum AP levels. Our patient experienced no side effects. Standardized developmental testing showed better developmental progress during the 21-month treatment period with D-mannose than in the 12 months following the discontinuation of treatment. The D-Mannose treatment might have had a positive effect on the development of our patient with PIGV-CDG.