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Alone in the face of adversity

Published on: 3rd March, 2021

OCLC Number/Unique Identifier: 9031333886

From my desk I could be watching the wind blow or the horses running. Practicing Medicine in a rural setting has these advantages: from time to time you can take the time to admire the beauty that surrounds you in the form of an obligatory pause within a marathon working day, and rest helps refresh your mind of prejudices to continue with the inescapable task that awaits us after a few minutes, the only ones allowed to order our thoughts.
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Partial SHOX duplications associated with various cases of congenital uterovaginal aplasia (MRKH syndrome): A tangible evidence but a puzzling mechanism

Published on: 24th March, 2021

OCLC Number/Unique Identifier: 9272364196

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is the most severe form of congenital malformation of the inner female reproductive tract. It is diagnosed as such when the uterus, the upper vagina and optionally the Fallopian tubes are absent. It accounts for approximately 1 in 5000 live-born females and has been classified in two subtypes: type 1 in the presence of isolated uterovaginal aplasia and type 2 when associated in various combinations with extragenital malformations of the kidneys, skeleton, heart and auditory system. Most cases of MRKH syndrome are sporadic, although a significant number of many familial cases have been reported to date. Despite numerous studies, the genetics of the syndrome remains largely unknown and appears to be heterogeneous: chromosomal abnormalities and some candidate gene variants appear to be associated with a few cases; others have been suggested but not yet confirmed. To date, mainly the GREB1L gene appears to be a serious candidate. Among the remaining hypotheses, the controversial contribution of partial duplications of the SHOX gene is still puzzling, as the deficiency of this gene is a major cause of skeletal adysplasia syndromes. We have attempted to resolve this controversy in a study of 60 MRKH cases. Our results tend to show that SHOX duplications can be the origin of a genetic mechanism responsible for MRKH syndrome.
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NAD⁺ Biology in Ageing and Chronic Disease: Mechanisms and Evidence across Skin, Fertility, Osteoarthritis, Hearing and Vision Loss, Gut Health, Cardiovascular–Hepatic Metabolism, Neurological Disorders, and Muscle

Published on: 26th January, 2026

Background: Nicotinamide adenine dinucleotide (NAD⁺) is a pivotal coenzyme and signaling substrate that integrates redox balance with mitochondrial energy production, DNA repair, epigenetic control, and cellular stress resilience. Declines in NAD⁺ availability—frequently observed with ageing, chronic inflammation, and metabolic stress—have intensified interest in NAD⁺ restoration as a potential strategy to influence disease biology across multiple organ systems.Objective: This narrative review summarizes contemporary mechanistic and translational evidence on NAD⁺ biosynthesis and turnover, highlighting the de novo kynurenine pathway and vitamin B3–dependent salvage routes (nicotinic acid, nicotinamide, nicotinamide riboside, and nicotinamide mononucleotide). We also examine how major NAD⁺ consumers and sensors, sirtuins, poly(ADP-ribose) polymerases (PARPs), and CD38 link NAD⁺ status to inflammation, oxidative stress, and tissue dysfunction in diverse clinical contexts.Methods: Peer-reviewed literature on NAD⁺ metabolism, NAD⁺-dependent signaling, and preclinical/clinical studies of NAD⁺ precursors was evaluated and organized into: (i) core biochemical functions in cellular energetics, (ii) NAD⁺ consumption in genome maintenance and immune signaling, and (iii) organ-focused evidence relevant to skin disorders, infertility and reproductive health, osteoarthritis, hearing loss, vision decline, gut barrier dysfunction, cardiovascular and renal metabolism, hepatic steatosis, neurological diseases, and skeletal muscle health.Results: NAD⁺ supports glycolysis, the tricarboxylic acid cycle, and oxidative phosphorylation, while acting as an essential substrate for PARP-driven DNA repair and sirtuin-mediated deacylation programs that shape mitochondrial fitness, inflammatory tone, and metabolic flexibility. Across experimental models, impaired NAD⁺ homeostasis repeatedly associates with mitochondrial dysfunction, heightened oxidative injury, and dysregulated immune–barrier responses, features shared by intestinal inflammation, neurodegeneration and ischemic injury, cardiometabolic disease, kidney injury, and fatty liver disease. Supplementation with NAD⁺ precursors (notably NR and NMN) reliably elevates NAD⁺ in preclinical systems and increases circulating NAD⁺ metabolites in humans, with early signals of pathway engagement; however, clinical outcomes remain heterogeneous across populations, dosing regimens, and endpoints. Evidence for intravenous NAD⁺ “drip” therapy is comparatively limited and insufficiently standardized, with constraints related to tolerability, dose consistency, and cost, underscoring the need for controlled trials.Conclusion: NAD⁺ occupies a central position at the interface of energy metabolism, genome integrity, and immunometabolic signaling, providing a coherent framework for understanding how cellular stress can propagate multisystem dysfunction. Although NAD⁺-boosting strategies are biologically plausible and mechanistically supported, definitive clinical benefit across skin, fertility, osteoarthritis, sensory decline, gut disorders, cardiovascular and hepatic disease, neurological conditions, and muscle health will require well-designed human studies with standardized biomarkers, safety surveillance, and clinically meaningful endpoints.
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Systemic Lupus Erythematosus and Depression Overview

Published on: 3rd January, 2024

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.
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Knowledge, Attitude, and Practices of Parents toward (Infant & Child) Oral Health in Family Medicine Center at PSMMC, Riyadh

Published on: 8th August, 2023

Background: Early childhood caries may develop as soon as teeth erupt. Promoting oral health care programs is very important and helps to reduce dental caries in young children. The aim of this study was to assess the infant/child oral health (IOH) related knowledge, attitudes, and practices (KAP) of parents in Riyadh, Saudi Arabia. Materials and Methods: A cross-sectional descriptive study was conducted among 327 parents. Visiting the family medicine center at prince sultan military medical city, Riyadh Saudi Arabia. A 39-item questionnaire covering socio-demographic characteristics and questions pertaining to KAP regarding OH care will be used to collect the data. Descriptive statistics, Student’s t-test, one-way analysis of variance, and Scheffe’s test will use for the statistical analysis (p ≤ 0.05). Results: The result showed that the majority of the parents had good knowledge regarding OH, knowledge of cleaning (92.4.%), and knowledge of the amount of sugar (88.1.%). the parent’s age group (30 to 39) years (n =147) reported the highest mean (knowledge, attitudes, and practice) scores among all other age groups with a knowledge mean score of (6.80 ± 1.73), an attitude mean score of (8.86 ± 1.37), and a practice mean score of (5.14 ± 1.86).  Female parents showed significantly higher mean knowledge, attitude, and practice scores than male parents. In addition, the middle-income level parents’ group (n = 295) reported higher knowledge mean score compared to the low-income parents’ group (n = 15) with a mean difference of d = 1.15, p = .041.  Conclusion: Parents’ knowledge about maintaining oral and dental health care for infants/children was inadequate. Essentially, medical professionals are the initial ones to interact with expecting and new moms. Therefore, need to raise parents’ awareness about oral and dental health for infants/children, through the development and implementation of long-term education and promotions programs.
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Knowledge and attitudes of pediatric nurses regarding oral health care for hospitalized children in Riyadh, Saudi Arabia

Published on: 6th September, 2022

Background: Pediatric nurses are in a unique position to provide oral health care to hospitalized children and help in the prevention and management of oral diseases. The objectives of this study were to determine pediatric nurses’ level of oral health knowledge and to evaluate their attitude towards the prevention of oral diseases and willingness to obtain more oral health education and training.Methods: A cross-sectional study was conducted at 6 randomly selected hospitals in Riyadh city, Saudi Arabia. A self-administrated questionnaire with items including demographic data, dental knowledge, attitude, and willingness to obtain more information and training was completed by 240 pediatric nurses working in different pediatric medical wards.Results: On average, 64% of surveyed pediatric nurses had acceptable dental knowledge. Only 79% of nurses assess patients’ mouths on admission. About 77% of nurses claimed to receive instructions regarding oral care before qualification and 72% after qualification. However, 91% showed great attitudes and interest in providing oral care to hospitalized children and were willing to obtain more information about oral health care for children.Conclusion: Pediatric nurses working in Riyadh hospitals had limited oral health knowledge, however, they showed good awareness and a positive attitude toward promoting oral health care to hospitalized children.
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Cardiac metastases from merkel cell cancer: A case report and review of literature

Published on: 5th July, 2022

OCLC Number/Unique Identifier: 9575034003

A 61 - year-old physically fit and athletic man presented to his dermatologist with a 10 mm raised, dark lesion on the left side of his neck. A complete skin examination did not show any other abnormal areas of skin. Pathology was found consistent with Merkel cell cancer, and the patient was referred to surgery for a wide local excision and sentinel lymph node biopsy. A PET scan did not show any other areas of concern. At surgery, one of two sentinel lymph nodes was found to be involved with Merkel cell cancer and the patient received postoperative radiation.
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Incidence of hepatitis B and hepatitis C in Pediatric ward in 2ed March teaching hospital, Sebha: South of Libya

Published on: 28th April, 2021

OCLC Number/Unique Identifier: 9028067583

Objective: to determine the incidence of HBV and HCV in pediatric ward. Sitting: 2ed March teaching hospital, sebha Libya. Materials and Methods: this was a prospective hospital base study of pediatric cases admitted to 2ed March teaching hospital during a period from March 2018 to February 2019. Pediatric cases were studied for the incidence of HBsAg and HCV Ab by ELISA, Rapid technique. The positive result was confirmed with line immuno-assay. Results: the study showed positive HBsAg in 12 patients and HCV in 2 cases out 25 cases represented with acute hepatitis from a total of 1763 pediatric cases were submitted in this study, with incidence rate of 0.68% and 0.11% respectively. Conclusion: the incidence of HBV and HCV are low in Sebha, therefore active program need to be applied to control the spread of infection among the population.
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Psychoanalysis of the doctrine of acute pneumonia

Published on: 29th April, 2021

OCLC Number/Unique Identifier: 9028067876

It is difficult to predict how the founder of psychoanalysis, Sigmund Freud, would react to an attempt to link his theory and the method of treating mental disorders based on it [1], with such a purely physical disease as acute pneumonia (AP). It is unlikely that such an innovation could cause full approval and support. However, in this context, we are not talking about psychoanalysis as a therapeutic method for AP. In this case, only the diagnostic features of this technique are of interest
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Bone marrow histology in CALR mutated thrombocythemia and myelofibrosis: Results from two cross sectional studies in 70 newly diagnosed JAK2/MPL wild type thrombocythemia patients

Published on: 21st June, 2019

OCLC Number/Unique Identifier: 8180078896

The clinical phenotypes in 268 JAK2V617F mutated MPN patients in the Seoul study were PV in 101, ET in 95 and MF in 78 and 56 CALR mutated MPN consisted of PV in none, ET in 40 and MF in 16 cases. CALR mutated MPN patients were younger than JAK2V617F mutated MPN patients (mean ages 57.5 and 66 years), had lower values for values for leukocytes (8.6 vs 11.9x109/L) and higher values for platelets (898 vs 643x109/L respectively). Bone marrow histopathology in 268 JAK2V617F mutated MPN patients in the Seoul study was featured by an increased erythropoiesis and megakaryopoiesis (EM) in 13.5%, an increased erythropoiesis, megakaryopoiesis and granulopoiesis (EMG) in 31.3%, a normocellular megakaryocytic (M) proliferation in 29,1%, a megakaryocytic and granulocytic (MG) proliferation with a relative reduction of erythropoiesis in post-ET and Post-PV myelofibrosis in 26.2%. The bone marrow histology in 56 cases of CALR mutated MPN show a predominantly increased megakaryopoiesis (M) in two thirds and an increased megakaryopoiesis and granulopoiesis (MG) with a decreased erythropoiesis in one third. Thirteen consecutive CALR MPN patients in the Belgian & Dutch cross sectional study presented with thrombocythemia associated with a typical PMGM bone marrow histology in 11 and myelofibrosis in 2 cases. All 11 thrombocythemia and 2 myelofibrosis CALR mutated MPN patients did not have constitutional symptoms and did not suffer from microvascular erythromelalgic disturbances, major thrombosis at platelet counts between 400 and 1000x109/L. There was an occurrence of hemorrhages at platelet counts above 1000x109/L in two CALR thrombocythemia cases. Bone marrow histology of CALR mutated thrombocythemia in the Seoul and Belgian/Dutch study showed loose clusters of large megakaryocytes (M) with bulky, cloud-like nuclei with a normal or a minor reduction of erythropoiesis and no increase in reticulin fibers grade 0 or 1 (RF 0 or 1). CALR thrombocythemia patients show various degrees of increased bone marrow cellularity due to dual megakaryocytic and granulocytic (MG) proliferation featured by large megakaryocytes with roundish bulky nuclear forms and cloud-like clumsy nuclei, which are almost never seen in JAK2V617F ET and PV. Assessment of allele burden is an independent and most important factor for all molecular variants MPN disease burden. Overt myelofibrosis with advanced post PV and or ET myelofibrosis at the bone marrow level occurred in one third (30%) of 208 evaluable JAK2 MPN patients and in 8 (14%) of 56 CALR MPN patients in the Seoul study.
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