UNASSIGNED: There is limited information on relationships among biomarkers of thiamine status (whole blood thiamine diphosphate [ThDP], erythrocyte transketolase activity coefficient [ETKac], and human milk thiamine [MTh]) and clinical manifestations of thiamine deficiency.
UNASSIGNED: This study aimed to explore correlations among these biomarkers and thiamine responsive disorders (TRDs), a diagnosis based on favorable clinical response to thiamine.
UNASSIGNED: Hospitalized infants and young children (aged 21 d to <18 mo) with respiratory, cardiac, and/or neurological symptoms suggestive of thiamine deficiency were treated with parenteral thiamine (100 mg daily) for ≥3 d alongside other treatments and re-examined systematically. Clinical case reports were reviewed by 3 pediatricians, who determined TRD or non-TRD status. Children in a community comparison group were matched by age, sex, and residence. Venous whole blood ThDP and MTh were determined by high-performance liquid chromatography fluorescence detection and ETKac in washed erythrocytes by ultraviolet spectrophotometry. Associations between biomarkers were assessed using Spearman correlations, and biomarker cutoffs predictive of TRD and ETKac >1.25 were explored using area under the receiver operating characteristic curve framework.
UNASSIGNED: Thiamine biomarkers were available for 287 hospitalized children and 228 community children (mean age 4.7 mo; 59.4% male). Median (interquartile range [IQR]) ThDP and ETKac were 66.9 nmol/L (IQR: 41.4, 96.9 nmol/L) and 1.25 nmol/L (IQR: 1.11, 1.48 nmol/L), respectively, among hospitalized children, and 64.1 nmol/L (IQR: 50.0, 85.3 nmol/L) and 1.22 nmol/L (IQR: 1.12, 1.37 nmol/L) among 228 community children (P > 0.05 for both). Forty-five percent of breastfeeding mothers of infants <6 mo had MTh <90 μg/L. ThDP and ETKac, but not MTh, were significantly different between 152 children with TRD and 122 without TRD, but overlapping distributions undermined prediction of individual responses to thiamine.
UNASSIGNED: Although ETKac, ThDP, and MTh are useful biomarkers of population thiamine status, none of the biomarkers reliably identified individual children with TRD. ThDP is more practical for population assessment because preparing washed erythrocytes is not required.This trial was registered at clinicaltrials.gov as NCT03626337.

In this case series, the simultaneous occurrence of Wernicke\'s encephalopathy (WE) and dry beriberi was reported in three patients who underwent vertical sleeve gastrectomy (VSG) between May 2021 and May 2023. All patients were obese women who underwent vertical sleeve gastrectomy (VSG) without immediate postoperative complications, but two weeks later, hyperemesis and subsequent encephalopathy with ocular movement abnormalities and weakness were observed over the following thirty days. Patients were referred to neurology, where due to the high suspicion of WE, thiamine replacement therapy was initiated; meanwhile, diagnostic neuroimaging and blood tests were conducted. Neurological and psychiatric evaluations and neuroconduction studies were performed to assess the clinical evolution and present sequelae. One year after diagnosis, all patients exhibited affective and behavioral sequelae, anterograde memory impairment, and executive functioning deficits. Two patients met the criteria for Korsakoff syndrome. Additionally, peripheral nervous system sequelae were observed, with all patients presenting with sensorimotor polyneuropathy. In conclusion, Wernicke\'s encephalopathy requires a high diagnostic suspicion for timely intervention and prevention of irreversible sequelae, which can be devastating. Therefore, raising awareness among medical professionals regarding the significance of this disease is essential.

Kazimierz Funk, born on February 23, 1884, in Warsaw, demonstrated an early inclination toward the field of human physiology. He charted his scientific trajectory within esteemed European scientific institutions, commencing at the age of 16 in Geneva, where he pursued studies in natural sciences. Subsequently, he continued his academic endeavors in Bern, culminating in the attainment of his doctorate in 1904. Following this, Funk relocated to Paris and secured a position at the Pasteur Institute. In France, his research concentrated on elucidating the role of trace elements in the human body. In 1906 he transitioned to Berlin, collaborating with Hermann Fisher (1852-1919) to investigate proteins and cancer processes. In 1910, Funk ventured to London, joining the Lister Institute, where he initiated research on beriberi disease. His investigations led to the isolation of a substance pivotal in treating the ailment, which he termed \"vitamin\" (derived from \'vita\' meaning life and \'amine\' indicating a nitrogen-containing compound). Despite four nominations for the Nobel Prize (in 1914, 1925, 1926, and 1946), Kazimierz Funk didn\'t receive the prestigious accolade. In 1925, at the urging of Dr. Ludwik Rajchman (1881-1965), the director of the National Institute of Hygiene, Funk assumed the directorship of the Biochemistry and Hygiene of Nutrition Branch at the National School of Hygiene. Under Funk\'s guidance, Poland became the third European country to produce insulin. Kazimierz Funk passed away on November 19, 1967, in New York City, at the age of 83. His significant contributions to the fields of biochemistry and nutrition endure as a testament to his enduring impact on scientific understanding. This proposal aims to condense and emphasise Kazimierz Funk\'s diverse scientific interests and the various scientific teams and sites he collaborated with, which ultimately led to his groundbreaking discover.
Kazimierz Funk urodził się 23 lutego 1884 r. w Warszawie. Od najmłodszych lat wykazywał zainteresowanie fizjologią człowieka. Swoją ścieżkę naukową Kazimierz Funk kreował w najbardziej uznanych ośrodkach naukowych Europy. Już w wieku 16 lat wyjechał do Genewy, gdzie studiował nauki przyrodnicze. Następnie podjął naukę w Bernie. Po uzyskaniu tytułu doktora (1904 r.) przeniósł się do Paryża, gdzie otrzymał pracę Instytucie Pasteura. We Francji koncentrował swoje badania na funkcji pierwiastków śladowych w ludzkim organizmie. W 1906 r. przeprowadził się do Berlina, gdzie wraz z Hermannem Fisherem (1852-1919) prowadził badania nad białkami oraz procesami nowotworowymi. W 1910 r. Kazimierz wyjechał do Londynu by tam podjąć pracę w Instytucie Listera, gdzie rozpoczął badania nad chorobą beri-beri. W wyniku swoich badań wyizolował substancję mającą kluczowe znaczenie w leczeniu tej choroby. Nadał jej nazwę ,,witamina” (vita - życie, amina - związek zawierający azot). Pomimo 4-krotnej nominacji (w latach: 1914, 1925, 1926 i 1946) Kazimierz Funk nie otrzymał Nagrody Nobla. W 1925 r. za namową dr Ludwika Rajchmana (1881-1965), ówczesnego dyrektora Państwowego Zakładu Higieny, objął stanowisko dyrektora Oddziału Biochemii i Higieny Odżywiania Państwowej Szkoły Higieny. Za sprawą Kazimierza Funka Polska była trzecim krajem w Europie, w którym produkowano insulinę. Kazimierz Funk zmarł 19 listopada 1967 r. w Nowym Jorku dożywając 83 lat. Niniejsza praca ma na celu skondensowanie i podkreślenie różnorodnych zainteresowań naukowych Kazimierza Funka oraz wielu zespołów i ośrodków naukowych, z którymi współpracował, co ostatecznie doprowadziło do jego przełomowego odkrycia.

BACKGROUND: The prevalence of obesity among children and adolescents is rising and poses a major health concern. Bariatric surgery is well established in adults and has become an option for adolescents. Thiamine (B1) deficiency is common following bariatric surgery in adults. It may present as Beri-Beri, Wernicke encephalopathy, or Korsakoff psychosis.
OBJECTIVE: Our aim was to describe the clinical features, diagnosis, and treatment of adolescents who presented with B1 deficiency after bariatric surgery at one center, and to summarize the data from the literature.
METHODS: Three adolescents with morbid obesity (two boys and one girl, aged 15.5 to- 17-years-old), presented at Schneider Children\'s Medical Center of Israel with progressive lower limb pain and weakness 2-3 month following a bariatric procedure (sleeve gastrectomy or narrowing of a bariatric band). The girl also had upper limb involvement and cerebellar signs. All three were non-compliant with micronutrient supplementation. After admission, they received intravenous B1 and oral multivitamin supplementation, and their symptoms improved considerably.
CONCLUSIONS: Micronutrient supplementation following bariatric surgery is crucial to prevent deficiencies. In adolescents, compliance with micronutrient supplementation should be assessed before and after such surgery. Thiamine deficiency may cause polyneuropathy, among other symptoms. Treatment reduces the severity of neurological complications.

BACKGROUND: Thiamine deficiency disease may occur in infants from thiamine-deficient mothers in developing countries, as well as in infants fed solely with soy-based formula. Thiamine deficiency in infants may present with acute neurological manifestations of infantile encephalitic beriberi.
OBJECTIVE: To review the role of noncontrast CT brain findings in infantile encephalitic beriberi in early diagnosis.
METHODS: A retrospective review of noncontrast CT scans of the brain in 21 infants with acute-onset infantile encephalitic beriberi was carried out.
RESULTS: On noncontrast-enhanced CT brain, hypodense lesions were seen symmetrically in the putamen in all the babies; symmetric hypodensities were seen in the caudate nuclei in 14/21 (67%), in dorsomedial thalami/hypothalamic/subthalamic area in 4/21 (19%), and in the globi pallidi in 2/21 (9.5%) of the infants.
CONCLUSIONS: Recognition of symmetrical hypodense lesions in the basal ganglia and medial thalami/hypothalamic/subthalamic area on noncontrast CT scan of the brain are important early features to recognize in encephalitic beriberi in at-risk infants.
CONCLUSIONS: IEBB is a cause of hypodense bilateral basal ganglia and may be identified by this finding in the appropriate clinical settings.

暂无摘要。

Shoshin beriberi is a fulminant form of wet beriberi, but there are no large-scale studies detailing the clinical features of this disease. We investigated the clinical features and outcomes of Shoshin beriberi using data from a nationwide database in Japan.Using the Diagnosis Procedure Combination database, we identified patients with Shoshin beriberi between July 2010 and March 2021. We retrospectively investigated the characteristics, comorbidities, treatment, and in-hospital mortality of patients with Shoshin beriberi. The chi-square test or Fisher\'s exact test was used for categorical variables, and the Mann-Whitney U-test was used for continuous variables.We identified 62 patients with Shoshin beriberi. The median (interquartile range) age was 63 (48-69) years. Furthermore, 54 patients were male (87%). The most common comorbidity was alcohol-related disorder (34%). The median (interquartile range) length of hospital and intensive care unit stays were 17 (range, 10-35) and 5 (range, 1-9) days, respectively. The proportion of patients who received venoarterial extracorporeal membrane oxygenation, intra-aortic balloon pump, continuous renal replacement therapy, and mechanical ventilation was 11, 5, 29, and 63%, respectively. Among the patients with Shoshin beriberi, 53% received 2 or more catecholamines or inotropes. The in-hospital mortality was 23%. Impaired consciousness at admission was significantly related to in-hospital death (P < 0.001).The present study is the first and largest to describe the clinical features of patients with Shoshin beriberi using a nationwide database. Impaired consciousness at admission was significantly associated with in-hospital death.

We describe an overweight but otherwise previously healthy 17-year-old female who presented with altered mental status and rapidly progressive weakness. She was ultimately diagnosed with Wernicke encephalopathy and wet beriberi resulting from severe thiamine deficiency. She required admission to the pediatric ICU because of hypoventilation with progressive weakness and worsening encephalopathy and was found to have impaired cardiac function as assessed by echocardiography. Her heart function and encephalopathy improved on initiation of thiamine repletion. She remained in inpatient rehabilitation for 10 months but still remained weak at discharge. Thiamine deficiency is not commonly considered in the United States as a diagnosis other than in patients with severe alcohol use disorder. However, thiamine may be depleted in as little as 2 weeks if nutrition is inadequate. In such a setting, thiamine deficiency is an important etiology to consider early in the pediatric patient with altered mentation especially because it can be readily and safely treated.

OBJECTIVE: To develop a predictive model for thiamine responsive disorders (TRDs) among infants and young children hospitalized with signs or symptoms suggestive of thiamine deficiency disorders (TDDs) based on response to therapeutic thiamine in a high-risk setting.
METHODS: Children aged 21 days to <18 months hospitalized with signs or symptoms suggestive of TDD in northern Lao People\'s Democratic Republic were treated with parenteral thiamine (100 mg daily) for ≥3 days in addition to routine care. Physical examinations and recovery assessments were conducted frequently for 72 hours after thiamine was initiated. Individual case reports were independently reviewed by three pediatricians who assigned a TRD status (TRD or non-TRD), which served as the dependent variable in logistic regression models to identify predictors of TRD. Model performance was quantified by empirical area under the receiver operating characteristic curve.
RESULTS: A total of 449 children (median [Q1, Q3] 2.9 [1.7, 5.7] months old; 70.3% exclusively/predominantly breastfed) were enrolled; 60.8% had a TRD. Among 52 candidate variables, those most predictive of TRD were exclusive/predominant breastfeeding, hoarse voice/loss of voice, cyanosis, no eye contact, and no diarrhea in the previous 2 weeks. The area under the receiver operating characteristic curve (95% CI) was 0.82 (0.78, 0.86).
CONCLUSIONS: In this study, the majority of children with signs or symptoms of TDD responded favorably to thiamine. While five specific features were predictive of TRD, the high prevalence of TRD suggests that thiamine should be administered to all infants and children presenting with any signs or symptoms consistent with TDD in similar high-risk settings. The usefulness of the predictive model in other contexts warrants further exploration and refinement.
BACKGROUND: Clinicaltrials.gov NCT03626337.

Type B lactic acidosis can occur secondary to several factors, including thiamine deficiency, and is not as common as type A. Recognizing thiamine deficiency-associated lactic acidosis is challenging because serum thiamine concentrations are not routinely obtained, and a thorough and specific history is necessary for clinicians to suspect thiamine deficiency as a root cause. Furthermore, the appropriate dose and duration of thiamine treatment are not well defined. Untreated thiamine deficiency-associated lactic acidosis can lead to critical illness requiring lifesaving extracorporeal therapies. Additionally, if thiamine and glucose are not administered in an appropriate sequence, Wernicke encephalopathy or Korsakoff syndrome may occur. This review aims to summarize therapeutic treatment for thiamine deficiency-associated lactic acidosis, based on case reports/series and nutritional guidance. After a literature search of the PubMed database, 63 citations met inclusion criteria, of which 21 involved pediatric patients and are the focus of this review. -Citations describe dosing regimens ranging from 25 to 1000 mg of intravenous (IV) thiamine as a single dose, or multiple daily doses for several days. Specific guidance for critically ill adults recommends a thiamine range of 100 mg IV once daily to 400 mg IV twice daily. Although there are no specific recommendations for the pediatric population, given the relative safety of thiamine administration, its low cost, and our review of the literature, treatment with thiamine 100 to 200 mg IV at least once is supported, with ongoing daily doses based on clinical response of the patient, regardless of age.