Multiple Deficiency Research Articles

Coexistence of multiple causes in patients with iron deficiency.

The etiology of disorders may be attributable to multiple causal factors simultaneously. This study sought to investigate how frequently, and which causes coexist in patients with iron deficiency. All patients who applied to the Iron Deficiency Outpatient Clinic between January and December 2021 were included in this cross-sectional study. The causes of iron deficiency were extracted from patient files. Analyses were conducted on the entire population as well as three subgroups: women of reproductive age, postmenopausal women, and males. Numbers and frequencies of causes of iron deficiency were calculated. The subgroups were compared using the Jamovi software. The study sample comprised a total of 331 patients. Women of reproductive age were the majority of patients admitted to the clinic (86.7%, n=287). Men represented 6.3% of the sample (n=21), and postmenopausal women accounted for 7.0% (n=23). The mean ages were 37.6±9.05, 49.2±15.49 and 57.8±10.84 years, respectively. The overall sample's rate of multiple iron deficiency causes coexisting was 33.5% (n=111) and the subgroups showed similar frequencies for the coexistence of multiple causes. Statistically, the number of simultaneous multiple causes varied between subgroups (χ2=118, df=10, p<0.001). Heavy menstrual bleeding and nonsteroidal anti-inflammatory drug use were the most common dual causes of multiple coexisting conditions (n=46, 41.4%). In terms of the number of causes, the coexistence of two causes of iron deficiency in women was notable, whereas the coexistence of three causes in males was remarkable. Furthermore, it has been found that some patients have up to five coexisting causes of iron deficiency. Some iron deficiency causes may coexist, and this must be taken into account for the effective management of iron deficiency.

Anterior Pituitary Endocrine Dysfunctions in Patients with Traumatic Brain Injury in the Neurosurgical Units of the Yaounde Central and General Hospitals: A Cross-Sectional Study

BACKGROUND: Post-traumatic endocrine dysfunction (PTED) is an important and relatively common complication of TBI (traumatic brain injury). It is usually undiagnosed and untreated making it a major cause of poor outcome in TBI patients as it can lead to death, delayed recovery, cognitive impairment, depression, sexual dysfunctions and infertility. STUDY DESIGN: Analytic cross-sectional study at the Yaounde Central and General Hospitals from January 2022 to April 2022. AIM: The main aim of this study was to evaluate the endocrine dysfunctions and factors associated to their occurrence in patients presenting TBI at the neurosurgical units of the Yaounde Central and General Hospitals. METHODS: Patients were enrolled at the neurosurgical units Data was collected with the help of a questionnaire after obtaining their informed consent alongside with blood samples in the morning (between 8AM and 10AM) for screening of anterior hypothalamo-pituitary axis hormones (FSH, LH and TSH) and relative peripheral hormones (cortisol, T4, oestrogene in women and testosterone in men) using fluorescence immunoassay. The study population was made up of all patients diagnosed with TBI during the study period at study sites. Patients taking medications affecting the hypothalamo-pituitary axis were excluded. Variables of interest included socio-demographic variables, clinical variables and paraclinical variables. Data was inserted and analyzed using the software Statistical Package for Social Sciences (SPSS) version 26.0. Association between variables was done using Fisher’s exact test. The association measure used was odd’s ratio (OR) with confidence interval (CI) of 95%. RESULTS: A total of 33 participants were enrolled, out of which 26 responding to our inclusion criteria were retained and 7 excluded because they were on medications affecting the hypothalamo-pituitary axis. The median age of participants was 34 (26,75–41,25) years. There was a predominance of the male population with a sex ratio of 12:1. A total of 17 participants developed PTED (65.38%). The PTED encountered were FSH deficiency (12 patients at 46,1%), LH deficiency (10 patients at 38,4%), morning cortisol deficiency (5 patients at 19,2%), TSH deficiency (7 patients at 26,9%), testosterone deficiency (5 patients at 19,2%) and multiple deficiencies (12 patients at 46,1%). PTED was also found in 6 patients with severe TBI, 6 patients with moderate TBI and 5 patients with mild TBI (35.3%, 35.3% and 29.4%). In ≤7 days from TBI, 11 patients suffered PTED (64.7%) while after 7 days post-TBI, only 6 patients suffered PTED (35.3%). Tiredness was the most frequent symptom observed in 15 patients with PTED (88.2%). No factors associated to the occurrence of PTED were found in this study (p-values were all &gt;0.05). CONCLUSION: This study suggests that PTED is a common condition amongst sufferers of TBI. PTED occurs in both genders and the most frequent types of anterior pituitary endocrine dysfunctions were hypogonadism, hypothyroidism and lastly corticotropic insufficiency. Most patients with PTED had associated CT-scan lesions. No factors was significantly associated to the occurrence of PTED probably due to small sample size.

Challenges in Genetic Diagnosis of Mitochondrial Diseases: What Can Functional Genomics' Studies Do?

Mitochondrial oxidative phosphorylation (OXPHOS) diseases are challenging both from clinical and therapeutic perspectives. The advent of next-generation sequencing (NGS) boosted the discovery of new genetic defects affecting OXPHOS, with pathogenic variants identified in >350 genes to date [1]. However, in many patients, novel variants of unknown clinical significance are found. Subsequent functional studies may clarify its pathogenic consequences and modify the variant's classification, establishing a genetic diagnosis [2, 3]. Analysis of data obtained from patients (P1-P5) with novel genetic causes and functional genomics' studies performed, namely OXPHOS respiratory/glycolytic rates (Seahorse XF), enzymatic activity and assembly (BN-page), protein levels (SDS-WB), single muscle fiber assay, NGS and bioinformatics. P1-Leigh syndrome (40y, male); Complex IV activity deficiency (full assembly absent), homozygous deletion (c.-11_13del, SURF1), not detected by NGS[2]. P2- Epileptic encephalopathy (8y, male); homozygous c.882-1G>A, FASTKD2; OXPHOS decrease; reduced FASTKD2 expression and abnormal respiratory/glycolytic rates. P3-Cardiomyopathy/ nephropathy (39y, male); c.29G>C, FASTKD2; OXPHOS decrease; reduced FASTKD2 levels. P4-CPEO (62y, female); multiple OXPHOS deficiency; mtDNA alterations (m.7486G>A, MTTS1; 4,977bp del); higher levels of mutant mtDNA alterations in COX-deficient fibers [3]. P5- Polyneuropathy (15y, female); heterozygous c.1437C>A, POLG; combined def. or normal OXPHOS activity/respiratory capacity (tissue variable), raised CI assembly; normal POLG levels. Also, proteins' expression levels were reduced (P1-4), confirming pathogenicity. In P5, data do not support pathogenicity. If specific functional results are similar to controls, one might inquire about the pathogenicity of the studied variant and more genetic or bioinformatics analyses and family investigations are needed. There are also limitations of NGS in mutation detection that Sanger sequencing can overcome (P1). When performed first, the OXPHOS activity may guide to genetic screening or interpretation, concordant to later assembly results. All cases were solved and data may be crucial for genetic counseling.

Exome sequencing in 16 patients with pituitary stalk interruption syndrome: A monocentric study

Pituitary stalk interruption syndrome (PSIS) is a rare disorder characterized by an absent or ectopic posterior pituitary, absent or interrupted pituitary stalk and anterior pituitary hypoplasia on magnetic resonance imaging (MRI), as well in some cases a range of heterogeneous somatic anomalies. The triad can be incomplete. Here, we performed exome sequencing on 16 sporadic patients, aged 0.4 to 13.7 years diagnosed with isolated or complex PSIS. Growth hormone deficiency was isolated in 10 cases, or associated with thyrotropin deficiency in 6 others (isolated (2 cases), associated with adrenocorticotropin deficiency (1 case), gonadotropins deficiency (1 case), or multiple deficiencies (2 cases)). Additional phenotypic anomalies were present in six cases (37.5%) including four with ophthalmic disorders. In 13 patients variants were identified that may contribute to the phenotype. However, only a single individual carried a variant classified as pathogenic. This child presented with the typical clinical presentation of Okur-Chung neurodevelopmental syndrome due to a CSNK2A1 missense variant. We also identified variants in the holoprosencephaly associated genes GLI2 and PTCH1. A likely pathogenic novel splice site variant in the GLI2 gene was observed in a child with PSIS and megacisterna magna. In the remaining 11 cases 26 variants in genes associated with pituitary development or function were identified and were classified of unknown significance. Compared with syndromic forms the diagnostic yield in the isolated forms of PSIS is low. Although we identified rare or novel missense variants in several hypogonadotropic hypogonadism genes (e.g. FGF17, HS6ST1, KISS1R, CHD7, IL17RD) definitively linking them to the PSIS phenotype is premature. A major challenge remains to identify pathogenic variants in cases with isolated PSIS.

Long-term prognosis of fatty-acid oxidation disorders in adults: Optimism despite the limited effective therapies available.

Fatty-acid oxidation disorders (FAODs) are recessive genetic diseases. We report here clinical and paraclinical data from a retrospective study of 44 adults with muscular FAODs from six French reference centers for neuromuscular or metabolic diseases. The study cohort consisted of 44 adult patients: 14 with carnitine palmitoyl transferase 2 deficiency (32%), nine with multiple acyl-CoA deficiency (20%), 13 with very long-chain acyl-CoA dehydrogenase deficiency (30%), three with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (7%), and five with short-chain acyl-CoA dehydrogenase deficiency (11%). Disease onset occurred during childhood in the majority of patients (59%), with a mean age at onset of 15 years (range = 0.5-35) and a mean of 12.6 years (range = 0-58) from disease onset to diagnosis. The principal symptoms were acute muscle manifestations (rhabdomyolysis, exercise intolerance, myalgia), sometimes associated with permanent muscle weakness. Episodes of rhabdomyolysis were frequent (84%), with a mean creatinine kinase level of 68,958 U/L (range = 660-300,000). General metabolic complications were observed in 58% of patients, respiratory manifestations in 18% of cases, and cardiological manifestations in 9% of cases. Fasting acylcarnitine profile was used to orient genetic explorations in 65% of cases. After a mean follow-up of 10 years, 33% of patients were asymptomatic and 56% continued to display symptoms after exercise. The frequency of rhabdomyolysis decreased after diagnosis in 64% of cases. A standardized register would complete this cohort description of muscular forms of FAODs with exhaustive data, making it possible to assess the efficacy of therapeutic protocols in real-life conditions and during the long-term follow-up of patients.

Circulating thyroid hormones and clinical parameters of heart failure in men

Heart failure (HF) is a multiple hormonal deficiency syndrome which includes alterations in the serum concentration of thyroid hormones (TH). This cross-sectional study enrolled 215 male patients hospitalised for acute HF. Data on cardiovascular risk factors, chronic medications, cardiac function assessed by echocardiography, and clinical parameters of HF were prospectively collected. The independent predictive association of TH with all investigated parameters of the HF severity were assessed. The patient’s mean age was 74.4 years, 57.2% had arterial hypertension, 54.0% were consuming alcohol, and 42.3% were diabetics. Multivariate analysis revealed that total triiodothyronine (TT3) was an independent predictor of greater left ventricular ejection fraction (LVEF; β = 0.223, p = 0.008), less progressed left ventricular diastolic dysfunction (LVDD; β = − 0.271, p = 0.001) and lower N-terminal pro-brain natriuretic peptide (NT-proBNP; β = − 0.365, p < 0.001). None of the TH other than TT3 was associated with LVDD or NT-proBNP, whereas free triiodothyronine (β = − 0.197, p = 0.004), free thyroxine (β = − 0.223, p = 0.001) and total thyroxine (β = − 0.140, p = 0.041) were inversely associated with LVEF. The present study suggests that, among TH, serum TT3 level is most closely associated with echocardiographic, laboratory and clinical parameters of the severity of HF in men.

Multiple micronutrient deficiencies in early life cause multi-kingdom alterations in the gut microbiome and intrinsic antibiotic resistance genes in mice.

Globally, ~340 million children suffer from multiple micronutrient deficiencies, accompanied by high pathogenic burden and death due to multidrug-resistant bacteria. The microbiome is a reservoir of antimicrobial resistance (AMR), but the implications of undernutrition on the resistome is unclear. Here we used a postnatal mouse model that is deficient in multiple micronutrients (that is, zinc, folate, iron, vitamin A and vitamin B12 deficient) and shotgun metagenomic sequencing of faecal samples to characterize gut microbiome structure and functional potential, and the resistome. Enterobacteriaceae were enriched in micronutrient-deficient mice compared with mice fed an isocaloric experimental control diet. The mycobiome and virome were also altered with multiple micronutrient deficiencies including increased fungal pathogens such as Candida dubliniensis and bacteriophages. Despite being antibiotic naïve, micronutrient deficiency was associated with increased enrichment of genes and gene networks encoded by pathogenic bacteria that are directly or indirectly associated with intrinsic antibiotic resistance. Bacterial oxidative stress was associated with intrinsic antibiotic resistance in these mice. This analysis reveals multi-kingdom alterations in the gut microbiome as a result of co-occurring multiple micronutrient deficiencies and the implications for antibiotic resistance.

Mycoplasma pneumoniae carriage in children with recurrent respiratory tract infections is associated with a less diverse and altered microbiota

Mycoplasma pneumoniae is a common cause of community-acquired pneumonia in school-aged children and can be preceded by asymptomatic carriage. However, its role in recurrent respiratory tract infections is unclear. We studied the prevalence of M.pneumoniae carriage in children with recurrent respiratory infections and identified associated factors. We tested M.pneumoniae carriage by qPCR in children with recurrent infections and their healthy family members in a cross-sectional study. Serum and mucosal total and M.pneumoniae-specific antibody levels were measured by ELISA and nasopharyngeal microbiota composition was characterized by 16S-rRNA sequencing. Prevalence of M.pneumoniae carriage was higher in children with recurrent infections (68%) than their family members without infections (47% in siblings and 27% in parents). M.pneumoniae carriage among family members appeared to be associated with transmission within the household, likely originating from the affected child. In logistic regression corrected for age and multiple comparisons, IgA (OR 0.16 [0.06-0.37]) and total IgG deficiency (OR 0.15 [0.02-0.74]) were less prevalent in M.pneumoniae carriers (n=78) compared to non-carriers (n=36). In multivariable analysis, the nasopharyngeal microbiota of M.pneumoniae carriers had lower alpha diversity (OR 0.27 [0.09-0.67]) and a higher abundance of Haemophilus influenzae (OR 45.01 [2.74-1608.11]) compared to non-carriers. M.pneumoniae carriage is highly prevalent in children with recurrent infections and carriers have a less diverse microbiota with an overrepresentation of disease-associated microbiota members compared to non-carriers. Given the high prevalence of M.pneumoniae carriage and the strong association with H.influenzae, we recommend appropriate antibiotic coverage of M.pneumoniae and H.influenzae in case of suspected pneumonia in children with recurrent respiratory tract infections or their family members. Wilhelmina Children's Hospital Research Fund, 'Christine Bader Stichting Irene KinderZiekenhuis', Sophia Scientific Research Foundation, ESPID Fellowship funded by Seqirus, Hypatia Fellowship funded by Radboudumc and The Netherlands Organisation for Health Research and Development (ZonMW VENI grant to LM Verhagen).

Looking Beyond the Growth Curve: A Retrospective Study on Nutrient Deficient Diets in Children with Severe Food Selectivity.

Severe food selectivity places children at risk for nutrient deficiencies and long-term medical complications, if unaddressed. However, poor nutrition in highly selective eaters is often overlooked when considering other behavioral or medical concerns. Additionally, studies regarding food selectivity are sparse and limited to children with developmental delays. This study further investigates the nutritional deficiencies and growth characteristics of children with severe food selectivity to assist pediatricians in the earlier identification of patients for nutrition screening. A retrospective chart review was completed for 13 patients admitted to a pediatric feeding program solely for table-textured food selectivity. Nutrition and anthropometric data from the medical record were analyzed. All patients were determined to be following an age-appropriate growth curve but had multiple micronutrient deficiencies. Additionally, 6 children were typically developing outside of the feeding context. Results suggest that children with food selectivity may require more intensive and earlier nutrition screening beyond their growth patterns.

Fuzzy Cognitive Mapping Approach to Conduct Deficiency Investigation under SIRE 2.0 Inspection

Ship Inspection Report Programme (SIRE) 2.0 has recently become operational as a new vessel inspection regime in the tanker industry. This study proposes a methodology to analyse and address multiple deficiencies observed during SIRE 2.0 inspections. The methodology is structured based on Fuzzy Cognitive Mapping (FCM) to identify and analyse the causes of deficiencies derived from the International Maritime Organization (IMO) classification scheme, including the factors under key dimensions, such as diminished human performance, marine environment, safety administration, and management. An illustrative case study on a set of deficiencies has been conducted to ascertain the utility of the methodology. The results specifically reveal that inadequate situational communication and awareness, inadequate knowledge of ship procedures, regulations, and standards, inadequate supervision, being unaware of role or task responsibility, poor maintenance, etc. are the potential causes that might lead to the occurrence of deficiency items. Considering the dimension-based distributions of causes, the study highlights integrated preventive action recommendations specific to the analysed deficiency cases. Consequently, the study might help tanker shipping companies manage key challenges with SIRE 2.0 implementations.

Обогащение молочной продукции недостающими в рационе россиян пищевыми веществами

The aim of the study is to analyze modern approaches to the enrichment of dairy products with missing nutrients in the diet — a complex of micronutrients and dietary fiber. Based on the presence of multiple micronutrient deficiencies in the population and taking into account the relationship of micronutrients in the organism, the most popular and effective is the enrichment of dairy products with a complex of vitamins and minerals in the form of multicomponent premixes. In recent years, β-glucans from various origins and apple pomace have been increasingly used as a source of dietary fiber. Cereal β-glucans have technological and biological properties. The dose of β-glucans for fermented milk products is in the range of 0,1–0,5 %, for cheeses and cheese-like products — 0,2–1,4 %, for ice cream and frozen desserts — 0,5–2,0 %. The advantage of apple pomace is the simultaneous high content of dietary fiber and antioxidant compounds. The introduction of dry pomace powder into the formulation of yogurt and fermented milk products at a dose of up to 3 % provides an improvement in technological parameters, an increase in syneresis and antioxidant properties of the product.

THU536 Pseudoglucagonoma Syndrome: A Rare Complication After Partial Pancreatectomy

Abstract Disclosure: E.P. Monsour: None. S. Badour: None. K.M. Tuna: None. J. Leey: None. M. Lamas: None. Introduction/Background: Necrolytic migratory erythema (NME) is a specific cutaneous eruption associated with glucagonoma, an alpha-cell secreting pancreatic neuroendocrine tumor. Glucagonoma syndrome is a paraneoplastic syndrome characterized by NME, diabetes, stomatitis, anemia, weight loss, and gastrointestinal disturbances. Rarely NME can occur in the absence of an alpha-cell tumor of the pancreas, termed pseudoglucagonoma syndrome, seen in other clinical entities such as hepatic disease and intestinal malabsorption. Here, we describe a rare case of pseudoglucagonoma syndrome as a long-term complication following partial pancreatectomy. Clinical Case: A 45-year-old male with a history of benign pancreatic head cyst s/p partial pancreatectomy, pancreatic exocrine insufficiency, and pancreatogenic diabetes reported a 2-week history of a rash on his bilateral upper and lower extremities that was accompanied with blistering and skin peeling. Associated symptoms included tongue pain, diarrhea, and worsening paresthesias. Medications included subcutaneous insulin aspart, pantoprazole, and pancrelipase. Physical examination revealed a patchy rash with hyperpigmented plaques and shellac-like scales, a smooth red tongue, and symmetric hyperreflexia. Preliminary punch biopsy was concerning for NME; thus, the patient was evaluated for possible glucagonoma. Laboratory evaluation revealed normocytic anemia with hemoglobin of 9.8 mg/dL, plasma glucose of 104 mg/dL, and glucagon level of 103 ng/L (RR: &amp;lt;208 ng/L). MRCP was negative for any pancreatic lesions. The patient was further evaluated for nutritional deficiencies and had strinkingly low vitamin A, D, E, K, B6, serum copper, and zinc levels. Plasma amino acids revealed low phenylalanine and tryptophan levels. He was started on a multivitamin (with minerals) and oral nutritional supplements with resolution of rash and subsequent improvement in symptoms. Final pathology of punch biopsy revealed parakeratosis with dermal edema, most compatible with nutritional deficiency. Discussion and conclusion: The pathogenesis and etiology of NME in glucagonoma and pseudoglucagonoma syndromes are not entirely understood. NME is thought to be multifactorial to multiple (essential) nutrient and vitamin deficiencies, as seen in our patient and other nutrient deficiency dermatoses such as zinc deficiency, necrolytic acral erythema, and pellagra. After further investigation, the patient reported poor adherence to pancrelipase supplementation, likely contributing to his clinical presentation and symptoms. Whereas in glucagonoma, excess glucagon levels cause a state of catabolism and exert its effect on the liver to increase gluconeogenesis via amino acid catabolism leading to deficiency. It is essential for clinicians to be aware of this rare and underrecognized phenomenon. Presentation: Thursday, June 15, 2023

Using Object-Based Verification to Assess Improvements in Forecasts of Convective Storms between Operational HRRR Versions 3 and 4

Abstract The object-based verification procedure described in a recent paper by Duda and Turner was expanded herein to compare forecasts of composite reflectivity and 6-h precipitation objects between the two most recent operational versions of the High-Resolution Rapid Refresh (HRRR) model, versions 3 and 4, over an expanded set of warm season cases in 2019 and 2020. In addition to analyzing all objects, a reduced set of forecast–observation object pairs was constructed by taking the best forecast match to a given observation object for the purposes of bias-reduction and unequivocal object comparison. Despite the apparent signal of improved scalar metrics such as the object-based threat score in HRRRv4 compared to HRRRv3, no statistically significant differences were found between the models. Nonetheless, many object attribute comparisons revealed indications of improved forecast performance in HRRRv4 compared to HRRRv3. For example, HRRRv4 had a reduced overforecasting bias for medium- and large-sized reflectivity objects, and all objects during the afternoon. HRRRv4 also better replicated the distribution of object complexity and aspect ratio. Results for 6-h precipitation also suggested superior performance in HRRRv4 over HRRRv3. However, HRRRv4 was worse with centroid displacement errors and more severely overforecast objects with a high maximum precipitation amount. Overall, this exercise revealed multiple forecast deficiencies in the HRRR, which enables developers to direct development efforts on detailed and specific endeavors to improve model forecasts. Significance Statement This work builds upon the authors’ prior work in assessing model forecast quality using an alternative verification method—object-based verification. In this paper we verified two versions of the same model (one an upgrade from the other) that were making forecasts covering the same time window, using the object-based verification method. We found that the updated model was not statistically significantly better, although there were indications it performed better in certain aspects such as capturing the change in the number of storms during the daytime. We were able to identify specific problem areas in the models, which helps us direct model developers in their efforts to further improve the model.

Prevailing Government Maternal Health Care System and Challenges Faced by Health Professionals: A Case study in Tehsil Jampur

This research aims to investigate maternal healthcare facilities and the challenges faced by the health professionals in tehsil Jampur. The present study utilized a qualitative approach and collected data from 23 participants through purposive sampling. The population of Tehsil Jampur in the Punjab province of Pakistan predominantly resides in rural areas. The data was collected via in-depth interviews and analyzed using a straightforward thematic analysis methodology. Services provided at primary healthcare units endeavor to met service-provision standards by arranging, LHVs, LHWs, LHS, CMWs, transportation, nutrition etc. but it requires to highlighting the importance of addressing staff absenteeism, inadequate infrastructure, and inconsistent working hours to improve health outcomes. It also reveals that due to multiple deficiencies, the assessment of service quality at facility centers is of utmost importance. The challenges encompass insufficient medicine accessibility, restricted service hours, inconvenient transportation to remote medical facilities, male exclusion as partaker of health program, traditional practices including reliance on TBAs and a scarcity of female healthcare providers influenced by cultural norms pertaining to gender dynamics. The health sector’s governance is adversely affected by the frequent fluctuations in government and its system. The health department experiences instability due to the varying strategies, programs, and staff appointments introduced by successive prime ministers.

Practical Recommendations on Micronutrient Deficiencies in Gastrointestinal Diseases

Almost all the micronutrients being absorbed in gastrointestinal tract, patients with gastrointestinal disorders are at highest risk of having multiple nutritional deficiencies including micronutrient deficiencies. Malnutrition and deficiencies can be prevented or treated by optimal medical nutrition therapy, yet limited specific knowledge about micronutrients remains among clinicians. Further knowledge on trace elements remains miniscule as compared to vitamins. Practical recommendations based on available micronutrient guidelines are therefore required regarding procedures for determination of requirements and, especially for gastrointestinal diseases as this is the commonest encountered problem that can impair enzymatic as well as biochemical processes and lead to multiple complications including death. Here we have tried to give consensus based recommendations to help practicing dieticians and clinicians making decision regarding specific micronutrient deficiencies and their implications in gastrointestinal diseases. Keywords: Practical recommendations on micronutrient deficiencies in gastrointestinal diseases, Malnutrition, IAPEN INDIA consensus statement

Mung Bean Nutrient Uptake and Root Response to Phosphorus and Potassium Placement Strategies

ABSTRACT A pot experiment was conducted to examine the effect of co-application of phosphorus (P) and/or potassium (K) fertilizer to a soil layer on Mung bean (Vigna radiata R. Wilczek) grown in a Yellow Chromosol soil. We hypothesized that adding K to a P- enriched soil layer would increase recovery of K due to increased root proliferation. Layers enriched with P, K or a combination of P and K were placed at either 5 or 20 cm depth in 50 cm deep pots, and a uniform PK application treatment included for comparison. Mung bean was grown for 45 days and key growth and nutrient uptake attributes were assessed. Phosphorus application increased shoot and root dry matter yield and shoot yield was 40% higher in the shallow P treatment and 77% higher in the shallow PK than in the uniform PK treatment. Shallow co-application of P and K increased shoot P and K content compared with shallow P alone. Apparent P fertilizer recovery (%PAFR) followed the same pattern, and there was an 8 to 12-fold increase in %KAFR. There was no evidence of an increase in either the proportion or mass density of roots in the enriched soil layers in any treatment. P and K fertilizer use efficiency was maximized by co-application in an enriched soil layer. When multiple nutrient deficiencies occur co-application of nutrients in a soil layer accessible to roots maximizes fertilizer use efficiency.

Integrated omics approach for the identification of HDL structure-function relationships in PCSK9-related familial hypercholesterolemia

The role of proprotein convertase subtilisin/kexin type 9 (PCSK9) in dyslipidemia may go beyond its immediate effects on low-density lipoprotein receptor (LDL-R) activity. This study aimed to assess PCSK9-derived alterations of high-density lipoprotein (HDL) physiology, which bear a potential to contribute to cardiovascular risk profile. HDL was isolated from 33 patients with familial autosomal dominant hypercholesterolemia (FH), including those carrying PCSK9 gain-of-function (GOF) genetic variants (FH-PCSK9, n=11), together with two groups of dyslipidemic patients employed as controls and carrying genetic variants in the LDL-R not treated (ntFH-LDLR, n=11) and treated (tFH-LDLR, n=11) with statins, and 11 normolipidemic controls. Biological evaluations paralleled by proteomic, lipidomic and glycomic analyses were applied to characterize functional and compositional properties of HDL. Multiple deficiencies in the HDL function were identified in the FH-PCSK9 group relative to dyslipidemic FH-LDLR patients and normolipidemic controls, which involved reduced antioxidative, antiapoptotic, anti-thrombotic and anti-inflammatory activities. By contrast, cellular cholesterol efflux capacity of HDL was unchanged. In addition, multiple alterations of the proteomic, lipidomic and glycomic composition of HDL were found in the FH-PCSK9 group. Remarkably, HDLs from FH-PCSK9 patients were systematically enriched in several lysophospholipids as well as in A2G2S2 (GP13) glycan and apolipoprotein A-IV. Based on network analysis of functional and compositional data, a novel mosaic structure-function model of HDL biology involving FH was developed. Several metrics of anti-atherogenic HDL functionality are altered in FH-PCSK9 patients paralleled by distinct compositional alterations. These data provide a first-ever overview of the impact of GOF PCSK9 genetic variants on structure-function relationships in HDL.

Parietal and occipital hair loss patterns in initial stages of androgenic alopecia in men

Background. The initial stages of androgenetic alopecia in men are characterized by a variety of clinical manifestation in the parietal or occipital scalp regions. However, the differences in the pathogenesis of hair loss patterns are not well understood, selective treatment has not been developed.&#x0D; Aims. Trichological characteristics of patients with initial stages of androgenetic alopecia with identification of genetic and non-genetic factors that determine the hair loss in the different scalp regions, and their response to conservative therapy.&#x0D; Materials and methods: Trichograms were photodocumented using an AramoSG microcamera (Republic of Korea). The genetic factor was analyzed by mini-sequencing of single nucleotide polymorphisms rs929626, rs5919324, rs1998076, rs12565727, rs756853. The non-genetic factors study included hormonal status (total and free testosterone, dihydrotestosterone, 17OH-progesterone, dehydroepiandrostenone, SHBG) and blood content of trace elements (Mg, Ca, Zn, Cu, Se, Fe) and vitamins (B12, D, E, folic acid). Conservative treatment was topical application of a minoxidil 5% (twice-a-day, 4 months) and a micronutrient deficiencies personalized correction.&#x0D; Results. The study included 47 man with initial stages of androgenetic alopecia. Their trichological examination showed two patterns, consisting a predominant decrease in the hair density and diameter in the parietal and occipital scalp regions, which were subgroups formation criteria. An intergroup comparison revealed similar genetic risk, while hormonal parameters (increased dihydrotestosterone levels, a decrease in free testosterone) characterized the subgroup with parietal hair loss pattern. Also, a multiple deficiency of Zn, Cu, Se and vitamins B12, D, folic acid was detected in all patients. Subsequent conservative treatment had a positive effect in patients with parietal hair loss pattern, while in patients with occipital pattern no significant response was observed.&#x0D; Conclusions. The study develops ideas about differences between androgen-dependent parietal and androgen-independent occipital hair loss patterns in the initial stages of androgenetic alopecia, which requires different approaches to their conservative therapy.

Multiple micronutrient deficiencies alter energy metabolism in host and gut microbiome in an early-life murine model.

Micronutrients perform a wide range of physiological functions essential for growth and development. However, most people still need to meet the estimated average requirement worldwide. Globally, 2 billion people suffer from micronutrient deficiency, most of which are co-occurring deficiencies in children under age five. Despite decades of research, animal models studying multiple micronutrient deficiencies within the early-life period are lacking, which hinders our complete understanding of the long-term health implications and may contribute to the inefficacy of some nutritional interventions. Evidence supporting the Developmental Origins of Health and Disease (DOHaD) theory demonstrates that early-life nutritional deficiencies carry life-long consequences mediated through various mechanisms such as abnormal metabolic programming, stunting, altered body composition, and the gut microbiome. However, this is largely unexplored in the multiple micronutrient deficient host. we developed a preclinical model to examine undernutrition's metabolic and functional impact on the host and gut microbiome early in life. Three-week-old weanling C57BL/6N male mice were fed a low-micronutrient diet deficient in zinc, folate, iron, vitamin A, and vitamin B12 or a control diet for 4-weeks. Our results showed that early-life multiple micronutrient deficiencies induced stunting, altered body composition, impaired glucose and insulin tolerance, and altered the levels of other micronutrients not depleted in the diet within the host. In addition, functional metagenomics profiling and a carbohydrate fermentation assay showed an increased microbial preference for simple sugars rather than complex ones, suggestive of a less developed microbiome in the low-micronutrient-fed mice. Moreover, we found that a zinc-only deficient diet was not sufficient to induce these phenotypes, further supporting the importance of studying co-occurring deficiencies. Together, these findings highlight a previously unappreciated role of early-life multiple micronutrient deficiencies in shaping the metabolic phenome of the host and gut microbiome through altered glucose energy metabolism, which may have implications for metabolic disease later in life in micronutrient-deficient survivors.

Solvent/detergent treated pooled human plasma can decrease the recurrence of allergic transfusion reactions in pediatric, adolescent, and young adult patients.

Octaplas is a solvent/detergent (S/D)-treated pooled human plasma indicated for the treatment of thrombotic thrombocytopenic purpura (TTP) as well as multiple coagulation factor deficiency in patients with liver disease or undergoing liver transplantation or cardiac surgery. We aimed at providing pediatric, adolescent, and young adult evidence for the decrease in allergic transfusion reactions (ATRs) with S/D-treated plasma. A single-center retrospective review of patient records was performed from January 2018 through July 2022 for patients who received S/D treated plasma (Octaplas™; Octapharma). A total of 1415 units of S/D-treated plasma were transfused to nine patients at our institution. Patient ages ranged from 13 months to 25 years old. The reason to initiate transfusion with S/D treated plasma in six patients was mild to severe ATR to plasma-containing products and the need for therapeutic plasma exchange (TPE) or plasma transfusions (PTs). TPE or PT was performed for various clinical indications. Average S/D treated plasma volume per TPE or PT ranged from 200 to 1800 mL per event. During the study period, since initiating transfusions with S/D treated plasma, there have been no allergic or other transfusion reactions reported among these patients. We have successfully utilized S/D treated plasma over the last 4.5 years for pediatric, adolescent, and young adult patients who otherwise would have suffered ATR due to necessary TPE or PT. S/D treated plasma is an additional tool that can be utilized by transfusion services, including pediatrics, to safely transfuse their patients.