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Scurvy is a rare diagnosis in resource-rich countries, but cases have been documented in the United States in special populations of pediatric patients at increased risk of micronutrient deficiency such as those with autism spectrum disorder, developmental delay, or eating disorders. We discuss a seven-year-old female with autism spectrum disorder who presented with a limp and refusal to ambulate and elevated inflammatory markers on initial laboratory evaluation. Given her highly selective diet and malnutrition, we made a provisional diagnosis of scurvy and started treatment-dose vitamin C, which led to a significant improvement in her ambulatory function. Plasma vitamin C was ultimately undetectable. She was discharged with vitamin C supplementation and referred to a feeding clinic to address her malnutrition and selective eating.
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BACKGROUND: Patients with avoidant/restrictive food intake disorder (ARFID) commonly present with loss of weight or faltering growth in the setting of poor nutrition. However, patients with ARFID can present with micronutrient deficiencies without weight loss. In patients with ARFID, clinicians should be vigilant for micronutrient deficiencies and their presentations. CASE PRESENTATION: We report a unique case of ARFID in a twelve-year-old girl, who developed micronutrient deficiencies and presented with acute visual loss with a preceding history of impaired night vision. Ophthalmic examination revealed xerophthalmia and bilateral optic neuropathy. Investigations showed severe Vitamin A and folate deficiencies which accounted for her clinical findings. In addition, she was also found to have low Vitamin B12, copper, and Vitamin D levels. She had a history of selective eating from a young age with a diet consisting largely of carbohydrates, with no regular intake of meat, dairy, fruit and vegetables. This was not driven by weight or body image concerns. The patient's symptoms improved significantly with appropriate vitamin replacement and continued multidisciplinary care. CONCLUSIONS: This report describes a patient with ARFID presenting with visual complaints. In this case, the selective eating behaviours resulted in xeropthalmia and optic neuropathy. Micronutrient deficiencies are uncommon in developed countries. When these deficiencies are suspected, eating disorders, such as ARFID, should be considered. Similarly, clinicians caring for patients with restrictive eating disorders including ARFID should be familiar with the clinical presentations of various micronutrient deficiencies and consider evaluation and treatment for micronutrient deficiencies when clinically indicated.
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This review's objective is to examine the findings from various studies on oral signs and symptoms related to vitamin deficiency. In October 2023, two electronic databases (Scopus and PubMed) were searched for published scientific articles following PRISMA principles. Articles eligible for inclusion in this review had to be published in English between 2017 and 2023, be original studies, and involve human subjects. Fifteen studies were included in this review: three examining oral symptoms of vitamin B12 deficiency; one assessing vitamin B complex and vitamin E for recurrent oral ulcers; one investigating serum vitamin D levels in recurrent aphthous stomatitis patients; three exploring hypovitaminosis effects on dental caries; two measuring blood serum vitamin D levels; one evaluating vitamin B12 hypovitaminosis; three investigating hypovitaminosis as indicative of gingival disease; one focusing on vitamin deficiencies and enamel developmental abnormalities; one assessing vitamin deficiencies in oral cancer patients; one examining vitamin K as an oral anticoagulant and its role in perioperative hemorrhage; and one evaluating vitamin effects on burning mouth syndrome. Despite some limitations, evidence suggests a correlation between vitamin deficiencies and oral symptoms. This systematic review was registered in the International Platform of Registered Systematic Review and Meta-analysis Protocols (INPLASY) database (202430039).
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A balanced and healthy diet during the menopausal transition and after menopause is crucial for women to reduce the risk for morbidities and chronic diseases due to deficiency of essential nutrients. PURPOSE: The objective of this study was to conduct a systematic review of studies that analyzed the impact of vitamin and nutrient deficiencies in postmenopausal women in relation to increased morbidities and chronic conditions. METHODS: Observational studies were searched in the databases PubMed, UpToDate, and Google Scholar. RESULTS: We searched 122 studies, of which 90 were included in our analysis. The meta-analysis of the data could not be performed because of the heterogeneity of the statistical methods in the included studies. In our study, we focused on the aspects of vitamin B6, vitamin B12, vitamin D, iron, omega-3-fatty acids, and lycopene, belonging to the family of carotenoids. Postmenopausal women with deficiencies of these nutrients are more vulnerable to comorbidities such as cardiovascular and cerebrovascular events, metabolic diseases, osteoporosis, obesity, cancer and neurodegenerative diseases such as Parkinson's disease, Alzheimer's disease, depression, cognitive decline, dementia, and stroke. We concluded that women after menopause tend to have a greater probability of suffering from deficiencies in various vitamins and nutrients, and consequently have an increased risk of developing morbidities and chronic diseases. CONCLUSION: In conclusion, maintaining optimum serum levels of nutrients and vitamins, either through a balanced and healthy diet consuming fresh fruits, vegetables, and fats or by taking appropriate supplementation, is essential in maintaining optimal health-related quality of life and reducing the risk for women during the menopausal transition and after menopause. Nevertheless, more recent studies need to be assessed to formulate adequate recommendations to achieve positive clinical outcomes.
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It is estimated that billions of people around the world are affected by micronutrient deficiencies. Madagascar is considered to be particularly nutritionally vulnerable, with nearly half of the population stunted, and parts of the country facing emergency, near famine-like conditions (IPC4). Although Madagascar is generally considered among the most undernourished of countries, empirical data in the form of biological samples to validate these claims are extremely limited. Our research drew data from three studies conducted between 2013-2020 and provided comprehensive biomarker profile information for 4,710 individuals from 30 communities in five different ecological regions during at least one time-point. Estimated prevalences of nutrient deficiencies and inflammation across various regions of rural Madagascar were of concern for both sexes and across all ages, with 66.5% of the population estimated to be deficient in zinc, 15.6% depleted in vitamin B12 (3.6% deficient), 11.6% deficient in retinol, and lower levels of iron deficiency (as indicated by 11.7% deficient in ferritin and 2.3% deficient assessed by soluble transferrin receptors). Beyond nutrient status biomarkers, nearly one quarter of the population (24.0%) exhibited chronic inflammation based on high values of α-1-acid glycoprotein, and 12.3% exhibited acute inflammation based on high values of C-reactive protein. There is an 8-fold difference between the lowest and highest regional observed prevalence of vitamin B12 deficiency, a 10-fold difference in vitamin A deficiency (based on retinol), and a 2-fold difference in acute inflammation (CRP) and deficiencies of zinc and iron (based on ferritin), highlighting strong geographical variations in micronutrient deficiencies across Madagascar.
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Fat digestion and absorption play crucial roles in maintaining energy homeostasis and supporting essential physiological functions. The initial stage of fat digestion occurs in the stomach, where gastric lipase begins the hydrolysis of triglycerides. However, most fat digestion takes place in the small intestine via pancreatic enzymes and bile salts. Emulsification of fat by bile acids facilitates enzymatic action, breaking down triglycerides into free fatty acids and monoglycerides, which are then able to be absorbed by enterocytes. Fat malabsorption can result from various underlying conditions, such as exocrine pancreatic insufficiency, bile acid disorders, or intestinal diseases. The clinical manifestations of fat malabsorption include steatorrhea, malnutrition, and deficiencies of fat-soluble vitamins. Diagnostic approaches involve assessing fecal fat levels, imaging studies, and various functional tests to identify the specific etiology. This review article will describe the normal physiologic process of fat digestion and absorption and discuss various pathophysiology that can lead to fat malabsorption within the gastrointestinal tract as well as their respective diagnostic testing modalities. Effective digestion of fat is essential for overall health, because it allows for absorption of many essential nutrients, plays an integral role in cellular and structural function, and supplies energy to the body. When this is dysfunctional, disorders of malabsorption can occur. This article will give a brief overview of the physiologic process of fat digestion and absorption in healthy individuals as well as review important pathophysiology that can lead to fat malabsorption within the gastrointestinal tract and current diagnostic testing modalities.
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Insuficiência Pancreática Exócrina , Síndromes de Malabsorção , Humanos , Gorduras na Dieta , Absorção Intestinal , Insuficiência Pancreática Exócrina/diagnóstico , Insuficiência Pancreática Exócrina/etiologia , Triglicerídeos , Ácidos e Sais Biliares , Digestão , Técnicas e Procedimentos Diagnósticos/efeitos adversos , Síndromes de Malabsorção/diagnósticoRESUMO
BACKGROUND & AIMS: Patients receiving oncological esophagectomy or gastrectomy are known to be at high risk for vitamin and micronutrient deficiency before, during and after surgery. However, there are no clear guidelines for these cancer patients regarding postoperative vitamin supplementation. METHODS: We conducted a metanalysis consisting of 10 studies regarding vitamin and micronutrient deficiencies after oncological gastric or esophageal resection. 5 databases were searched. RESULTS: Data was sufficient regarding Vitamins B12 and 25-OH D3 as well as calcium. We were able to show deficiencies in 25-OH Vitamin D3 levels (p < 0.001) and lower levels of Vitamin B12 and calcium (bit p < 0.001) when compared to the healthy population. CONCLUSIONS: Patients from these groups are at risk for vitamin deficiencies. A guideline on postoperative supplementation is needed.
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Deficiência de Vitaminas , Neoplasias Esofágicas , Desnutrição , Obesidade Mórbida , Neoplasias Gástricas , Humanos , Neoplasias Esofágicas/cirurgia , Neoplasias Gástricas/cirurgia , Cálcio , Obesidade Mórbida/cirurgia , Vitaminas , Desnutrição/complicações , Vitamina B 12RESUMO
BACKGROUND: The RIDART I study found a 13.6% prevalence of anemia in Italian patients with inflammatory bowel disease (IBD); most cases were due to iron-deficiency anemia (IDA). AIMS: To evaluate changes in hemoglobin concentration during a 24-week follow-up of anemic patients with IBD. METHODS: Follow-up laboratory and clinical data were obtained from RIDART I study patients with anemia. Factors affecting hemoglobin concentration, the impact of anemia on fatigue and quality of life (QoL), and its relationship with treatment, disease activity and disease complications were investigated. RESULTS: Hemoglobin was 108 g/L at baseline, increased to 121 g/L at follow-up week 12 (p < 0.001) and then stabilized until week 24, but most patients remained anemic, with IDA, throughout the study. Hemoglobin improvement was greater in patients receiving either oral or parenteral iron supplementation. Following hemoglobin normalization, anemia relapse rate during follow-up was 30%. Oral iron did not cause disease reactivation. Lower follow-up hemoglobin was associated with a higher probability of having active disease, clinical complications, increased fatigue and reduced QoL. CONCLUSIONS: In anemic patients with IBD, anemia represents a long-lasting problem, in most cases persisting for up to 24 weeks, with high relapse rate and a negative impact on fatigue and QoL.
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Anemia Ferropriva , Hemoglobinas , Doenças Inflamatórias Intestinais , Qualidade de Vida , Humanos , Masculino , Feminino , Itália/epidemiologia , Hemoglobinas/análise , Adulto , Seguimentos , Doenças Inflamatórias Intestinais/complicações , Pessoa de Meia-Idade , Anemia Ferropriva/etiologia , Anemia Ferropriva/tratamento farmacológico , Ferro/administração & dosagem , Ferro/uso terapêutico , Fadiga/etiologia , Anemia/etiologia , Recidiva , Adulto JovemRESUMO
BACKGROUND: Nonunion of femoral shaft fractures in children is rare, and there is no clear treatment protocol. In this case report, a pediatric femoral shaft fracture that developed in nonunion due to vitamin deficiency after osteosynthesis, which was successfully treated with vitamin augmentation and replacement with a rigid antegrade intramedullary nail, is described. CASE PRESENTATION: The patient is an 11-year-old Japanese girl. She injured her right femoral shaft fracture when she hit a wall after kickboarding down a hill and underwent osteosynthesis with a titanium elastic nail. Six months postoperatively, she developed nonunion, was found to be deficient in vitamins D and K, and was started on vitamin supplementation. She underwent replacement with a rigid antegrade intramedullary nail at 7 months postoperatively, and bone union was achieved 3 months after reoperation. CONCLUSION: When delayed union of a fracture is observed postoperatively, even in children without underlying disease, the cause of the problem must be investigated and treated promptly.
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Fraturas do Fêmur , Fixação Intramedular de Fraturas , Hipopotassemia , Feminino , Humanos , Criança , Reoperação/métodos , Vitamina D/uso terapêutico , Fixação Intramedular de Fraturas/métodos , Pinos Ortopédicos , Consolidação da Fratura , Fraturas do Fêmur/diagnóstico por imagem , Fraturas do Fêmur/cirurgia , Vitaminas , Resultado do Tratamento , Estudos RetrospectivosRESUMO
PURPOSE: Roux-en-Y gastric bypass (RYGB) leads to the improvement of many obesity-associated conditions. The degree to which post-operative macronutrient composition contributes to metabolic improvement after RYGB is understudied. METHODS: A mouse model of RYGB was used to examine the effects of diet on the post-operative outcomes of RYGB. Obese mice underwent either Sham or RYGB surgery and were administered either chow or HFD and then monitored for an additional 8 weeks. RESULTS: After RYGB, reductions to body weight, fat mass, and lean mass were similar regardless of diet. RYGB and HFD were independently detrimental to bone mineral density and plasma vitamin D levels. Independent of surgery, HFD accelerated hematopoietic stem and progenitor cell proliferation and differentiation and exhibited greater myeloid lineage commitment. Independent of diet, systemic iron deficiency was present after RYGB. In both Sham and RYGB groups, HFD increased energy expenditure. RYGB increased fecal energy loss, and HFD after RYGB increased fecal lipid content. RYGB lowered fasting glucose and liver glycogen levels but HFD had an opposing effect. Indices of insulin sensitivity improved independent of diet. HFD impaired improvements to dyslipidemia, NAFLD, and fibrosis. CONCLUSION: Post-operative diet plays a significant role in determining the degree to which RYGB reverses obesity-induced metabolic abnormalities such as hyperglycemia, dyslipidemia, and NAFLD. Diet composition may be targeted in order to assist in the treatment of post-RYGB bone mineral density loss and vitamin D deficiency as well as to reverse myeloid lineage commitment. HFD after RYGB continues to pose a significant multidimensional health risk.
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Dislipidemias , Derivação Gástrica , Hepatopatia Gordurosa não Alcoólica , Obesidade Mórbida , Camundongos , Animais , Derivação Gástrica/métodos , Obesidade Mórbida/cirurgia , Obesidade/cirurgia , Obesidade/metabolismo , Dieta HiperlipídicaRESUMO
RESUMEN A partir de una revisión bibliográfica de la literatura se ha planeado y desarrollado un consenso de expertos internacionales sobre la utilización de las vitaminas B1, B6, B12 en sus déficits y en la neuropatía periférica que puede estar asociada a la misma, como tema que precia de esa aproximación aclaratoria para optimizar su manejo. Se plantearon varias cuestiones de discusión que se consideraron importantes y dignas de ser abordadas y aclaradas, conservando nueve de ellas para su discusión ulterior buscando el consenso en tres rondas consecutivas. Se han propuesto 41 recomendaciones sobre el manejo de estas condiciones, con unanimidad por parte de los participantes en el consenso. Con ellas se ha intentado aclarar puntos oscuros o controvertidos, facilitando la actitud del clínico ante ellos en la práctica médica actual.
ABSTRACT Based on a bibliographic review of the literature, a consensus of international experts has been carried out on the use of vitamins B1, B6, B12, in their deficiencies, and in the peripheral neuropathy that may be associated with them, to optimize the management of these conditions. Several questions considered important and worthy of being addressed and clarified were raised, retaining nine of them for further discussion to achieve consensus. Forty one recommendations on the management of these conditions have been proposed, with unanimity of the participants in the consensus. This has been an attempt to clarify controversial points, assisting the clinician's attitude in current medical practice.
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Chronic pancreatitis (CP) is often associated with exocrine pancreatic insufficiency (EPI), which may increase risk for fat-soluble vitamin depletion. Although vitamin D deficiency is widespread among the general population, vitamins A, E, and K deficiencies may more uniquely present in patients with CP. Yet, it is unclear whether fat-soluble vitamin status should be routinely monitored in all patients with CP or limited to those with EPI. The purpose of this review is to describe the laboratory status of vitamins A, E, and K in adult patients with CP and their association with exocrine pancreatic function. Five primary, observational studies met the inclusion criteria for qualitative synthesis. Biochemical deficiencies in fat-soluble vitamins were observed across trials but results varied with respect to whether EPI increased risk. Challenges related to the diagnosis and treatment of EPI along with potential confounders may contribute to the heterogeneity among study results. Although more studies are needed to determine the influence of pancreatic enzyme replacement therapy on fat-soluble vitamin status as well as effective vitamin repletion strategies, clinicians should consider periodically screening for deficiencies in all patients with CP regardless of EPI to avoid associated health effects of vitamin depletion.
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Deficiência de Vitaminas , Insuficiência Pancreática Exócrina , Pancreatite Crônica , Adulto , Humanos , Vitaminas/uso terapêutico , Pancreatite Crônica/complicações , Insuficiência Pancreática Exócrina/etiologia , Insuficiência Pancreática Exócrina/complicações , Pâncreas , Deficiência de Vitaminas/complicações , Deficiência de Vitaminas/diagnóstico , Deficiência de Vitaminas/epidemiologia , Vitamina A , Vitamina K/uso terapêuticoRESUMO
Background: Dietary deficiencies in vitamin C lead to scurvy, an uncommon disease of nutritional deficiency in contemporary clinical practice. The inability of humans to synthesize vitamin C necessitates the regular consumption of vitamin C containing fruits, vegetables, or tablets. Objective: To report a series of cases that came to HUCSH from May 25th up to the 18th of July, 2023, and to describe clinical features of scurvy from an observational study of on-site prison investigation. Methods: A descriptive analysis of a case series of ten patients admitted to HUCSH between May 25th and July 18th, 2023, and on-site observational study of 67 patients over one month. A structured questionnaire was used to collect data, and SPSS version 25 was used for analysis. Results: From the case series, all of the ten patients had either unilateral or bilateral leg swelling or pain as common compliant and all of them were male prisoners with mean age of 25.6±5.33 years and following admission, the hemoglobin value increased to 7.1±1.34 g/dL with treatment from 4.6±1.88 g/dL. From observational study of the prison, 67 cases were identified based on unilateral or bilateral leg swelling and/or pain, which was the presenting feature in the cluster of cases seen at HUCSH. The mean age was 23.57±6.4 years, and each patient got therapeutic doses of ascorbic acid 500mg PO daily using directly observed therapy and follow-up visit was after two and four weeks of ascorbic acid initiation and all patients showed significant improvement. Conclusion: For clinicians in modern medicine, there should be a high index of suspicion for scurvy as a possible differential diagnosis when a patient presents with leg swelling in high-risk population, such as prisoners. Health-care providers in prison clinics need to be alert to such forgotten yet life-costly disease in resource constrained prison clinics.
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Vitamin C deficiency, otherwise known as scurvy, is a rare diagnosis among populations with adequate nutritional resources. We present a 37-year-old female patient with bilateral lower extremity edema, episodic anasarca, petechiae, and easy bruising who was diagnosed with scurvy. Given the clinical presentation, a broad differential was investigated with no findings suggestive of hematologic or cardiovascular pathology. Initial laboratory studies were unremarkable. Progression of cutaneous symptoms and subsequent laboratory findings demonstrating low vitamin C levels supported a diagnosis of scurvy. Classical symptoms of scurvy include mucocutaneous petechiae, poor wound healing, ecchymosis, hyperkeratosis, corkscrew hair, gingival swelling, and bleeding gums. Following standard enteral supplementation of vitamin C, repeat vitamin C levels failed to adequately respond with the patient remaining to be symptomatic. Given a lack of insufficient nutritional intake or known systemic illness, gastrointestinal malabsorptive etiology was suspected. Though rare in the United States, scurvy should be considered in patients with manifestations of a bleeding disorder. A gastrointestinal workup may be indicated if other nutritional deficiencies are identified, or a source of inadequate intake cannot be established.
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Background: Vitamin D is best known as a key regulator of bone metabolism and calcium and phosphate homeostasis. This study aimed to assess the effect of different factors on the five-year changes in serum vitamin D concentration among older adults. Methods: This cohort study was conducted on adults aged ≥60 years living in Amirkola, in the North of Iran, from 2012 to 2017. Serum 25-hydroxyvitamin D (25-OH vitamin D) concentrations of <20, 20-29.99, and ≥30 ng/mL, respectively, were used to designate vitamin D deficiency, insufficiency, and sufficiency. Any variation between the second and baseline values of the 25-OH vitamin D concentration was reported as a five-year difference. Data were analyzed using SPSS version 17.0, and Chi square, t test, one-way ANOVA, and Tukey HSD post hoc tests were employed. P values less than 0.05 were considered statistically significant. Results: The mean serum concentration of 25-OH vitamin D at baseline and follow-up examination in 1011 individuals was 34.68±33.18 and 23.88±14.91, respectively (P<0.001). Following a five-year follow-up, vitamin D deficiency, insufficiency, and sufficiency were found in 452 (44.7%), 334 (33.0%), and 225 (22.3%) cases, respectively. The reduction in serum 25-OH vitamin D concentration after five years was significantly influenced by the administration of vitamin D (P=0.013) and calcium (P=0.007) supplements, serum profile of parathyroid hormone (PTH) (P=0.010), calcium (P=0.021), and phosphorous (P=0.021). However, age, sex, body mass index, metabolic syndrome, and physical activity had no significant impact (P>0.05). Conclusion: Regardless of age, sex, body mass index, metabolic syndrome, or physical activity, the mean serum concentration of vitamin D decreased over a five-year follow-up.
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Síndrome Metabólica , Deficiência de Vitamina D , Humanos , Idoso , Estudos de Coortes , Vitamina D , Vitaminas , Deficiência de Vitamina D/complicações , Deficiência de Vitamina D/epidemiologia , Cálcio da DietaRESUMO
Fat-soluble vitamins, including vitamins A, D, E, and K, are essential for maintaining normal body function and metabolism. Fat-soluble vitamin deficiency may lead to bone diseases, anemia, bleeding, xerophthalmia, etc. Early detection and timely interventions are significant for preventing vitamin deficiency-related diseases. Liquid chromatography-tandem mass spectrometry (LC-MS/MS) is developing into a potent instrument for the precise detection of fat-soluble vitamins due to its high sensitivity, high specificity, and high resolution.
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Deficiência de Vitaminas , Espectrometria de Massas em Tandem , Humanos , Cromatografia Líquida/métodos , Espectrometria de Massas em Tandem/métodos , Vitaminas/análise , Vitaminas/química , Vitamina A , Deficiência de Vitaminas/diagnóstico , Vitamina DRESUMO
PURPOSE: Chronic pancreatitis (CP) leads to diabetes and pancreatic exocrine insufficiency (PEI). PEI may lead to maldigestion and malnutrition, which may cause fat-soluble vitamin deficiency, sarcopenia and abnormal bone density. We aim to study the prevalence of osteoporosis, sarcopenia and vitamin deficiency among CP patients. METHODS: Long-term (4-5 years) follow-up was implemented on CP patients. We recorded CP duration, BMI, smoking, alcohol consumption and medication. We determined the serum values for A, D and E vitamins, albumin, creatinine, haemoglobin, calcium and magnesium. Bone density measurement was taken from the proximal femur and lumbar spine. CT/MRI scans were used to measure for psoas muscle area. RESULTS: A total of 33 patients (median age 62 [39-81] years, 61% male) were included. None of these patients had earlier diagnosis of osteopathy, and none of them had known vitamin deficiency or were sarcopenic. Nineteen patients (57%) had pancreatic exocrine insufficiency and of these seven patients (37%) had no pancreatic enzyme replacement therapy (PERT) and one (5%) had inadequate enzyme therapy. During the study, osteoporosis was diagnosed in 20% and possible sarcopenia in 48% of patients. PEI and inadequate PERT was associated with low E vitamin levels (75% vs. 0%, p = 0.012), higher risk of osteoporosis (43% vs. 5.6%, p = 0.013) and sarcopenia (80% vs. 36%, p = 0.044). CONCLUSION: This study demonstrates that chronic pancreatitis is associated with osteoporosis, sarcopenia and vitamin deficiency. If untreated, pancreatic exocrine insufficiency is associated with increased risk of these outcomes. This highlights the importance of identifying and treating PEI in CP patients.
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Deficiência de Vitaminas , Insuficiência Pancreática Exócrina , Osteoporose , Pancreatite Crônica , Sarcopenia , Humanos , Masculino , Pessoa de Meia-Idade , Feminino , Sarcopenia/epidemiologia , Sarcopenia/complicações , Pancreatite Crônica/complicações , Pancreatite Crônica/epidemiologia , Osteoporose/epidemiologia , Osteoporose/etiologia , Insuficiência Pancreática Exócrina/etiologia , Insuficiência Pancreática Exócrina/complicações , Deficiência de Vitaminas/complicações , VitaminasRESUMO
Riboflavin transporter deficiency (RTD) is a rare genetic disorder that can have detrimental effects on the nervous system, causing progressive neurodegeneration. Here, we report the second case of RTD in Saudi Arabia. An 18-month-old boy presented to the otolaryngology clinic with six weeks history of progressive noisy breathing associated with drooling, choking, and difficulty in swallowing. Progressive regression of the child's motor and communicative abilities was reported as well. Upon examination, the child had biphasic stridor, chest retractions, bilateral facial palsy, and hypotonia. The presence of an aerodigestive foreign body or congenital anomalies was excluded using bronchoscopy and esophagoscopy. Empirical high-dose riboflavin replacement therapy was initiated upon anticipation of diagnosis. Whole exome sequencing revealed a SLC52A3 gene mutation, which confirmed the diagnosis of RTD. After a period of intensive care unit (ICU) admission with endotracheal intubation, the child's general condition improved, and he was weaned off of respiratory support. Tracheostomy was avoided in this patient, as he responded to riboflavin replacement therapy. During the disease course, an audiological assessment revealed severe bilateral sensorineural hearing loss. He was discharged home on gastrostomy feeding owing to the risk of frequent aspiration, and he was regularly followed up by the swallowing team. The early initiation of high-dose riboflavin replacement appears to be of great value. The benefits of cochlear implants in RTD have been reported, but not fully established. This case report will increase awareness in the otolaryngology community about patients with this rare disease who might initially present to the clinic with an otolaryngology-related complaint.
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Total parental nutrition (TPN) is a critical component of neonatal intensive care. Supply shortages leading to deficiencies in TPN constituents can have devastating consequences for critically ill patients in the neonatal intensive care unit (NICU), who may be initially misdiagnosed as potential inborn errors of metabolism. Here, we present three cases of patients with prolonged TPN dependence due to intra-abdominal pathology who presented with signs and symptoms concerning for metabolic disorders and who were ultimately determined to be a result of vitamin deficiencies in the TPN after unnecessary testing and interventions had occurred. These diagnostic errors highlight the need for clinicians to maintain a high index of suspicion for nutritional deficiencies when treating patients in the NICU with potential metabolic disorders during times when TPN constituents are not available, as well as advocating to ensure that adequate supplies are maintained for this vulnerable population.