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The Pan African Medical Journal 2021Vitamin B12 deficiency in early childhood is an important cause of neurodevelopmental delay and regression. Most of these cases occur in exclusively breast-fed infants... (Review)
Review
Vitamin B12 deficiency in early childhood is an important cause of neurodevelopmental delay and regression. Most of these cases occur in exclusively breast-fed infants of deficient mothers. Symptoms and signs of vitamin B12 deficiency appear between the ages of 2 to 12 months and include vomiting, lethargy, failure to thrive, hypotonia, and arrest or regression of developmental skills. Approximately one half of this cases exhibit abnormal movements, variously described as tremors, twitches, chorea, or myoclonus. Urinary concentrations of methylmalonic acid and homocysteine are characteristically elevated in vitamin B12 deficiency. Hyperglycinuria is sometimes present. The early diagnosis and treatment of vitamin B12 deficiency is crucial for significant neurological impairment and long-term prognosis. Treatment with vitamin B12 corrects these metabolic abnormalities very rapidly (within a few days). Vitamin B12 supplementation of pregnant women may prevent neurological and neuroradiological findings of the infants. Because of the importance of vitamin B12 in the development of the foetal and neonatal brain, vegetarian and vegan mothers should be aware of the severe and not fully-reversible damages caused by insufficient nutritional intake of vitamin B12 during pregnancy and lactation. Therefore, efforts should be directed to prevent its deficiency in pregnant and breastfeeding women on vegan diets and their infants. It is also important to take the nutritional history of both infants and their mothers for the early prevention and treatment. Here an interesting case of vitamin B12 deficiency in a 10-month-old boy presented with psychomotor regression, hypotonia and lethargy.
Topics: Breast Feeding; Dietary Supplements; Female; Humans; Infant; Male; Muscle Hypotonia; Pregnancy; Prenatal Care; Vitamin B 12; Vitamin B 12 Deficiency
PubMed: 34046142
DOI: 10.11604/pamj.2021.38.237.20967 -
Journal of Clinical Medicine Mar 2021Thoracic outlet syndrome comprises a group of disorders that result in compression of the brachial plexus and subclavian vessels exiting the thoracic outlet. Symptoms... (Review)
Review
Thoracic outlet syndrome comprises a group of disorders that result in compression of the brachial plexus and subclavian vessels exiting the thoracic outlet. Symptoms include pain, paresthesia, pallor, and weakness depending upon the compromised structures. While consensus in diagnostic criteria has not yet been established, a thorough patient history, physical exam, and appropriate imaging studies are helpful in diagnosis. General first-line therapy for thoracic outlet syndrome is a conservative treatment, and may include physical therapy, lifestyle modifications, NSAIDs, and injection therapy of botulinum toxin A or steroids. Patients who have failed conservative therapy are considered for surgical decompression. This article aims to review the epidemiology, etiology, relevant anatomy, clinical presentations, diagnosis, and management of thoracic outlet syndrome.
PubMed: 33804565
DOI: 10.3390/jcm10050962 -
Nutrients Jan 2023Favism is a hemolytic disease due to the ingestion of fava beans in individuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency. There is wide inter- and... (Review)
Review
Favism is a hemolytic disease due to the ingestion of fava beans in individuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency. There is wide inter- and intra-individual variability in the development of hemolytic crisis, and several factors influence it: quantity, quality, ripeness of fava beans, and age of onset. In this narrative review of case reports and case series, we reported the predisposing factors and clinical features for four different age groups classified as follows: pregnant women and infants (i.e., exclusively breastfed children); children, from weaned to 11 years; preadolescents and adolescents, from 11 to 18 years; and adults (18 years and older). Some symptoms developed only in specific age groups: death in infants; visual impairment in children; systolic murmur in infants, children, and adolescents; and renal failure in adults. In youngest children or pregnant women the severity is the highest. Some other symptoms were present in all: jaundice, increased bilirubin, splenomegaly, hepatomegaly, discolored urine, tachycardia, pallor, abdominal pain, malaise, vomit, nausea, and dizziness. Laboratory findings are characterized by anemia, reticulocytosis, elevated bilirubin level, and sometimes urinary urobilinogen and methemoglobinemia. In most cases the symptomatology is self-limited and does not release sequelae, but hospitalization and transfusion are often required.
Topics: Pregnancy; Child; Infant; Adolescent; Adult; Humans; Female; Favism; Glucosephosphate Dehydrogenase Deficiency; Vicia faba; Hemolysis; Bilirubin
PubMed: 36678214
DOI: 10.3390/nu15020343 -
Antioxidants (Basel, Switzerland) Jun 2022Skin aging is one of the most evident signs of human aging. Modification of the skin during the life span is characterized by fine lines and wrinkling, loss of... (Review)
Review
Skin aging is one of the most evident signs of human aging. Modification of the skin during the life span is characterized by fine lines and wrinkling, loss of elasticity and volume, laxity, rough-textured appearance, and pallor. In contrast, photoaged skin is associated with uneven pigmentation (age spot) and is markedly wrinkled. At the cellular and molecular level, it consists of multiple interconnected processes based on biochemical reactions, genetic programs, and occurrence of external stimulation. The principal cellular perturbation in the skin driving senescence is the alteration of oxidative balance. In chronological aging, reactive oxygen species (ROS) are produced mainly through cellular oxidative metabolism during adenosine triphosphate (ATP) generation from glucose and mitochondrial dysfunction, whereas in extrinsic aging, loss of redox equilibrium is caused by environmental factors, such as ultraviolet radiation, pollution, cigarette smoking, and inadequate nutrition. During the aging process, oxidative stress is attributed to both augmented ROS production and reduced levels of enzymatic and non-enzymatic protectors. Apart from the evident appearance of structural change, throughout aging, the skin gradually loses its natural functional characteristics and regenerative potential. With aging, the skin immune system also undergoes functional senescence manifested as a reduced ability to counteract infections and augmented frequency of autoimmune and neoplastic diseases. This review proposes an update on the role of oxidative stress in the appearance of the clinical manifestation of skin aging, as well as of the molecular mechanisms that underline this natural phenomenon sometimes accelerated by external factors.
PubMed: 35740018
DOI: 10.3390/antiox11061121 -
Allergy, Asthma & Immunology Research Nov 2022Food protein-induced enterocolitis syndrome (FPIES), though first reported in the 1970s, remains poorly understood and likely underdiagnosed. It is a non-immunoglobulin... (Review)
Review
Food protein-induced enterocolitis syndrome (FPIES), though first reported in the 1970s, remains poorly understood and likely underdiagnosed. It is a non-immunoglobulin E (IgE)-mediated food allergy syndrome, most commonly identified in infancy and childhood. It can manifest as a constellation of symptoms following food ingestion, including repetitive and projectile emesis (1-4 hours), accompanied by pallor, lethargy, muscular hypotonia, and diarrhea (5-10 hours). In more severe reactions, significant leukocytosis with neutrophilia, thrombocytosis, metabolic derangements, methemoglobinemia, anemia, low albumin, and total protein may be present. Hypotension and ultimately hypovolemic distributive shock may occur in up to 15%-20% of cases. The diagnosis of FPIES is challenging and providers continue to face difficulties in management. This review article aims to highlight the most recent updates in epidemiology, natural history, pathophysiology, potential diagnostic markers, and guidelines for the management of FPIES.
PubMed: 36426394
DOI: 10.4168/aair.2022.14.6.587 -
Cureus Jan 2022Raynaud's phenomenon (RP) is a multifactorial vasospastic disorder characterized by a transient, recurrent, and reversible constriction of peripheral blood vessels. RP... (Review)
Review
Raynaud's phenomenon (RP) is a multifactorial vasospastic disorder characterized by a transient, recurrent, and reversible constriction of peripheral blood vessels. RP is documented to affect up to 5% of the general population, but variation in its prevalence is commonly recognized owing to many factors, including varied definitions, gender, genetics, hormones, and region. Furthermore, RP may be idiopathic or be a clinical manifestation of an underlying illness. Patients with RP classically describe a triphasic discoloration of the affected area, beginning with pallor, followed by cyanosis, and finally ending with erythema. This change in color spares the thumb and is often associated with pain. Each attack may persist from several minutes to hours. Moreover, the transient cessation of blood flow in RP is postulated to be mediated by neural and vascular mechanisms. Both structural and functional alterations observed in the blood vessels contribute to the vascular abnormalities documented in RP. However, functional impairment serves as a primary contributor to the pathophysiology of primary Raynaud's. Substances like endothelin-1, angiotensin, and angiopoietin-2 play a significant role in the vessel-mediated pathophysiology of RP. The role of nitric oxide in the development of this phenomenon is still complex. Neural abnormalities resulting in RP are recognized as either being concerned with central mechanisms or peripheral mechanisms. CNS involvement in RP may be suggested by the fact that emotional distress and low temperature serve as major triggers for an attack, but recent observations have highlighted the importance of locally produced factors in this regard as well. Impaired vasodilation, increased vasoconstriction, and several intravascular abnormalities have been documented as potential contributors to the development of this disorder. RP has also been observed to occur as a side effect of various drugs. Recent advances in understanding the mechanism of RP have yielded better pharmacological therapies. However, general lifestyle modifications along with other nonpharmacological interventions remain first-line in the management of these patients. Calcium channel blockers, alpha-1 adrenoreceptor antagonists, angiotensin-converting enzyme inhibitors, nitric oxide, prostaglandin analogs, and phosphodiesterase inhibitors are some of the common classes of drugs that have been found to be therapeutically significant in the management of RP. Additionally, anxiety management, measures to avoid colder temperatures, and smoking cessation, along with other simple modifications, have proven to be effective non-drug strategies in patients experiencing milder symptoms.
PubMed: 35242466
DOI: 10.7759/cureus.21681 -
Journal of Ayub Medical College,... 2023We present the case of a 30-year-old woman who presented with 8-month history of intermittent fever, joint pains with morning stiffness, recurrent oral ulcers,...
We present the case of a 30-year-old woman who presented with 8-month history of intermittent fever, joint pains with morning stiffness, recurrent oral ulcers, photosensitivity, weight loss and hair fall. For the last 2 months, she had developed a dry cough with progressive shortening of breath. On examination, a cachexic lady with malar hyperpigmentation, alopecia, pallor, nail dystrophy and erythema over her hands and feet were noted. There were multiple punched-out skin ulcers of variable size over legs, arms and abdomen usually round in shape with well-defined even wound margins and scant serous discharge. Musculoskeletal examination revealed synovitis of both elbows and a few metacarpophalangeal and proximal interphalangeal joints. Chest X-ray and HRCT showed bilateral ground-glass opacification. Anti-Nuclear Antibody (ANA) was positive, 1:320, homogenous nuclear pattern. Anti-Ro antibody was highly positive and serum complement (C3, C4) levels were reduced. She was diagnosed with Lupus Vasculitis and started on steroids, mycophenolate mofetil and hydroxychloroquine.
Topics: Humans; Female; Adult; Mycophenolic Acid; Fever; Arthralgia; Vasculitis
PubMed: 38404096
DOI: 10.55519/JAMC-03-10849