Deficiency Disorders Research Articles

Prevalence and determinants of goitre among children of South Kordofan state, Sudan, 2021: an urgent need for effective implementation of universal salt iodisation.

This study aimed to determine the prevalence and determinants of goitre among children aged 6-12 years at South Kordofan state. This was a cross-sectional facility-based study. The study was conducted in twenty villages of South Kordofan state during a medical mission. All 575 school-age children (6-12 years) who attended the medical day were examined for clinical assessment of goitre. The prevalence of goitre among children of South Kordofan was 42·8 % (grade 1: 15·7 %, grade 2: 27·1 %). Only 24·2 % of caregivers reported using iodised salt. Mothers working as farmers (OR: 3·209, CI 95 % 1·437, 7·167; P = 0·004) and children of Darforian tribes (OR: 21·799, CI 95 % 2·566, 185·226; P = 0·005) were found to be significantly associated with higher prevalence of goitre among children. This contrasts with children of African tribes, where they were found to have less goitre prevalence (OR: 0·432, CI 95 % 0·213, 0·875; P = 0·02). Iodised salt utilisation (OR = 0·523, CI 95 % 0·320, 0·854; P = 0·01) was found associated with a lower prevalence of goitre. Even though National Iodine Deficiency Disorders control programs were initiated in Sudan more than 25 years ago, the prevalence of goitre among children in South Kordofan state was alarming (42·8 %). Efforts to improve access to iodised salt, increase utilisation and raise awareness are urgently needed.

Metabolic Alterations in NADSYN1-Deficient Cells.

NAD synthetase 1 (encoded by the gene NADSYN1) is a cytosolic enzyme that catalyzes the final step in the biosynthesis of nicotinamide adenine dinucleotide (NAD+) from tryptophan and nicotinic acid. NADSYN1 deficiency has recently been added to the spectrum of congenital NAD+ deficiency disorders. To gain insight into the metabolic consequences of NADSYN1 deficiency, the encoding gene was disrupted in A549 and HEK293T cells, and the metabolome was profiled in the presence of different NAD+ precursors, including tryptophan, nicotinamide and nicotinic acid. We demonstrate that when precursors of the NAD+ salvage pathway in the form of nicotinamide become limiting, NADSYN1 deficiency results in a decline in intracellular NAD+ levels even in the presence of other potential NAD+ sources such as tryptophan and nicotinic acid. As a consequence, alterations in 122 and 69 metabolites are observed in NADSYN1-deficient A549 and HEK293T cells compared to the wild-type cell line (FC > 2 and p < 0.05). We thus show that NADSYN1 deficiency results in a metabolic phenotype characterized by alterations in glycolysis, the TCA cycle, the pentose phosphate pathway, and the polyol pathway.

Epilepsy-linked kinase CDKL5 phosphorylates voltage-gated calcium channel Cav2.3, altering inactivation kinetics and neuronal excitability

Developmental and epileptic encephalopathies (DEEs) are a group of rare childhood disorders characterized by severe epilepsy and cognitive deficits. Numerous DEE genes have been discovered thanks to advances in genomic diagnosis, yet putative molecular links between these disorders are unknown. CDKL5 deficiency disorder (CDD, DEE2), one of the most common genetic epilepsies, is caused by loss-of-function mutations in the brain-enriched kinase CDKL5. To elucidate CDKL5 function, we looked for CDKL5 substrates using a SILAC-based phosphoproteomic screen. We identified the voltage-gated Ca2+ channel Cav2.3 (encoded by CACNA1E) as a physiological target of CDKL5 in mice and humans. Recombinant channel electrophysiology and interdisciplinary characterization of Cav2.3 phosphomutant mice revealed that loss of Cav2.3 phosphorylation leads to channel gain-of-function via slower inactivation and enhanced cholinergic stimulation, resulting in increased neuronal excitability. Our results thus show that CDD is partly a channelopathy. The properties of unphosphorylated Cav2.3 closely resemble those described for CACNA1E gain-of-function mutations causing DEE69, a disorder sharing clinical features with CDD. We show that these two single-gene diseases are mechanistically related and could be ameliorated with Cav2.3 inhibitors.

Rett and Rett-related disorders: Common mechanisms for shared symptoms?

Rett syndrome is a neurodevelopmental disorder caused by loss-of-function mutations in the methyl-CpG binding protein-2 (MeCP2) gene that is characterized by epilepsy, intellectual disability, autistic features, speech deficits, and sleep and breathing abnormalities. Neurologically, patients with all three disorders display microcephaly, aberrant dendritic morphology, reduced spine density, and an imbalance of excitatory/inhibitory signaling. Loss-of-function mutations in the cyclin-dependent kinase-like 5 (CDKL5) and FOXG1 genes also cause similar behavioral and neurobiological defects and were referred to as congenital or variant Rett syndrome. The relatively recent realization that CDKL5 deficiency disorder (CDD), FOXG1 syndrome, and Rett syndrome are distinct neurodevelopmental disorders with some distinctive features have resulted in separate focus being placed on each disorder with the assumption that distinct molecular mechanisms underlie their pathogenesis. However, given that many of the core symptoms and neurological features are shared, it is likely that the disorders share some critical molecular underpinnings. This review discusses the possibility that deregulation of common molecules in neurons and astrocytes plays a central role in key behavioral and neurological abnormalities in all three disorders. These include KCC2, a chloride transporter, vGlut1, a vesicular glutamate transporter, GluD1, an orphan-glutamate receptor subunit, and PSD-95, a postsynaptic scaffolding protein. We propose that reduced expression or activity of KCC2, vGlut1, PSD-95, and AKT, along with increased expression of GluD1, is involved in the excitatory/inhibitory that represents a key aspect in all three disorders. In addition, astrocyte-derived brain-derived neurotrophic factor (BDNF), insulin-like growth factor 1 (IGF-1), and inflammatory cytokines likely affect the expression and functioning of these molecules resulting in disease-associated abnormalities.

Determinants of Anemia in Adolescent Women at Makassar

Background: Anemia is one of the most common nutritional deficiency disorders which is a serious global public health problem, especially in developing countries, which is estimated to reach 30%. Anemia is especially prevalent among adolescent girls. The prevalence of anemia according to the World Health Organization (WHO), 2017 ranges from 40-88%. The results of Basic Health Research (Riskesdas) data in 2018 indicate that the prevalence of anemia increased from 37.1% in Riskesdas 2013 to 48.9% in 2018. The purpose of the study was to assess the determinants of anemia in adolescent girls aged 14-17 years at State High School (SMAN) 9 Makassar, Indonesia. Methods: The study was conducted at a State Senior High School in Makassar. With cross-sectional design. A total of 211 adolescent girls were selected by proportional random sampling.

Selenoprotein deficiency disorder predisposes to aortic aneurysm formation

Aortic aneurysms, which may dissect or rupture acutely and be lethal, can be a part of multisystem disorders that have a heritable basis. We report four patients with deficiency of selenocysteine-containing proteins due to selenocysteine Insertion Sequence Binding Protein 2 (SECISBP2) mutations who show early-onset, progressive, aneurysmal dilatation of the ascending aorta due to cystic medial necrosis. Zebrafish and male mice with global or vascular smooth muscle cell (VSMC)-targeted disruption of Secisbp2 respectively show similar aortopathy. Aortas from patients and animal models exhibit raised cellular reactive oxygen species, oxidative DNA damage and VSMC apoptosis. Antioxidant exposure or chelation of iron prevents oxidative damage in patient’s cells and aortopathy in the zebrafish model. Our observations suggest a key role for oxidative stress and cell death, including via ferroptosis, in mediating aortic degeneration.

Connections Between Vitamin D Deficiency and Brain Structural Changes: Implications for Neurocognitive Function and Neurodegenerative Disorders

In the general world population, vitamin D insufficiency frequently occurs. Severe vitamin D deficiencies are more common in individuals who also have critical illnesses. Ultraviolet B (UVB) radiation applied to the skin has an impact on the production of vitamin D. Through its anti-inflammatory and anti-autoimmune effects, vitamin D plays an immunomodulatory role. The regulation of calcium-mediated neuronal excitotoxicity, the decrease of oxidative stress, the induction of synaptic structure proteins as well as inadequate neurotransmitters and neurotrophic factors are all aspects of how vitamin D functions in the nervous system. A lack of dietary consumption and inadequate sun exposure can cause vitamin D deficiency. Vitamin D is essential for preserving brain health and function. Vitamin D deficiency can worsen the neurocognitive effects of disorders like Parkinson’s disease, Alzheimer’s disease, and other dementias. Mild cognitive impairment (MCI) refers to the earliest stage of memory impairment or other cognitive function loss. It has been found that the volume of the hippocampus and white matter integrity are both on the decline which is related to this cognitive impairment. There has been only limited exploration of the brain-specific areas that undergo structural change in response to vitamin D status. The objective of the present article was to review the connections between vitamin D deficiency and structural changes in the brain including implications for neurocognitive and neurodegenerative disorders in order to provide additional understanding, especially of brain areas that are involved with neurocognitive functioning or neurodegenerative disorders. KEYWORDS vitamin D deficiency, 25-hydroxyvitamin D, 25 (OH)D), vitamin D deficiency and brain image, vitamin D deficiency and neurodegenerative disorders

Ginkgo biloba Extracts Like EGb 761® for Treatment of Non Common Indications – A Selection of Clinical Studies

AbstractExtracts of Ginkgo biloba L. are one of the most commonly applied herbal medicines. The active constituents are flavonol glycosides and terpene trilactones in particular. The special extract EGb 761® is mentioned in the German S3 clinical guideline “Demenzen” as treatment option (“kann” recommendation). Some small- and large-scale clinical studies for Ginkgo biloba leaf extracts are summarized in this publication for the indications: Tardive dyskinesia, vitiligo, anxiety/anxiety disorder, visual impairment, mountain sickness, sudden hearing loss, attention deficient hyperactivity disorder (ADHD) in children and fatigue. The studies are of different quality and show variable results. More research is warranted to draw conclusions about the effectiveness of Ginkgo biloba extracts for those indications.

Iodized household salt utilization and associated factors among households in East Africa: a multilevel modelling analysis using recent national health surveys

IntroductionIodine deficiency disorders (IDDs) are a significant global public health issue that affects the physical and mental development of every age group, with children and nursing mothers being the most vulnerable. Approximately 50 million of approximately 2 billion people with iodine deficiency (ID) globally exhibit clinical symptoms. Identifying iodine levels using various techniques is important when considering treatment choices. Screening programs and early ID diagnostics are crucial for the follow-up of pregnant women, especially in iodine-deficient nations. There have been calls for universal salt iodization programs, but only approximately 71% of people have access to them. The problem is more common in developing nations; however, there is a shortage of literature on the individual-, family-, and community-level factors influencing iodized salt use in East Africa. This study aimed to investigate individual- and community-level factors of household iodized salt usage in East Africa.MethodsUsing Stata 17, this study used the most recent demographic and health survey datasets from twelve East African countries. The survey included a weighted sample of 154,980 households. To assess factors related to iodized salt use in the region, bivariable and multivariable multilevel logistic regressions were used. P values less than or equal to 0.2, and < 0.05 were used in the binary regression, and to deem variables statistically significant in the final model respectively.ResultsAbout 87.73% (95% CI = 87.56,87.89) households have utilized iodized household salt. Secondary and above education (AOR = 1.23, 95% CI = 1.17–1.30), household heads with ages of 25–35 years, 36–45 years (AOR = 1.20, 95% CI = 1.12,1.28), 36–45 years (AOR = 1.16, 95% CI = 1.09,1.24), and more than 45 years (AOR = 1.18, 95% CI = 1.11,1.25), lower and middle wealth (AOR = 0.89, 95% CI = 0.76,0.89) and (AOR = 0.97, 95% CI = 0.81,0.93), media exposure (AOR = 1.10, 95% CI = 1.07–1.14), female household leaders (AOR = 1.08, 95% CI = 1.04–1.12), access to improved drinking water and better toilet facility (AOR = 2.26, 95% CI = 2.18–2.35) and (AOR = 1.50, 95% CI = 1.44,1.56), larger than five family members (AOR = 0.96, 95% CI = 0.93–0.99), high community level wealth (AOR = 1.54, 95% CI = 1.27–1.87), and low community education(AOR = 0.40, 95% CI = 0.33,0.49) were statistically associated with utilization of iodized household salt in East Africa respectively.ConclusionIn East Africa, household salt iodization is moderately good. To expand the use of iodized salt in the region, access to improved drinking water and toilet facilities, participating family leaders, using the opportunity of family planning services, media sources, and the improvement of the community’s socioeconomic level are all needed.

Iodium fortification on traditional salt with spray different potassium iodate

The purpose of this study was to increase the iodine content of traditional salt after fortification of iodine with potassium iodate spray. In addition, this study also aims to determine the NaCl content and water content of traditional salt after potassium iodate fortification is carried out. This research is also expected to provide an alternative solution to increase the iodine content of salt by fortification of potassium iodate. And hopefully this research can help the government in handling cases of Iodine Deficiency Disorder in Indonesia. The treatments used were the addition of KIO3 solution with different weight of traditional salt P1 (50 gram traditional salt : 3 ml KIO3 solution), P2 (33,33 gram traditional salt : 3 ml KIO3 solution) dan P3 (25 gram traditional salt : 3 ml KIO3 solution). Potassium iodate fortification in traditional salt affects iodine and NaCl levels. Fortification of 3 ml potassium iodate with a salt weight of 25 grams (P3) produced the highest iodine content with an average of 64.74 ppm, an average NaCl content of 86.14 %, and an average water content of 3.7%.

Prevalence of adequately iodised salt and associated factors among households in Gambela district, Southwest Ethiopia: a cross-sectional study

BackgroundIodine deficiency disorders (IDDs) are among the major public health problems for populations worldwide. Although the recommended strategy for the prevention of IDD is universal salt iodisation, little is known...

Knowledge and Utilisation of Iodised Salt by School Children and Food Vendors in Dar es Salaam, Tanzania.

Universal Salt Iodisation (USI) is globally accepted as a cost-effective strategy for controlling Iodine Deficiency Disorders (IDD). However, there is a paucity of data on the proper use of iodised salt among food vendors. Thus, the present study assessed the School food environments and iodised salt practices among school food vendors in Tanzania. A cross-sectional study was conducted involving 322 school children and 30 school food vendors. A stratified multistage followed by a systematic random sampling technique was used to recruit schools and children. Salt samples were collected from food vendors and analyzed using the iodine rapid field test kit and then analyzed quantitatively using an iodometric titration method. The data on knowledge, attitude, and practices was collected using customized Iodine deficiency-related questionnaires recommended by FAO to assess iodine deficiency-related factors. For school food environments, 3 tools were designed and used to get information; the teachers, students, and school food vendors' tools. A chi-square test was used to establish an association between variables. About 76.7% of the salt samples from school food vendors were adequately iodised (≥15 ppm) with the mean iodine content of 39.26 ± 11.06. More than half (70%) of the food sold around school compound were junk food. Half (63.3%) of the food vendors had poor practices of iodised salt utilisation. A substantial achievement has been made in awareness creation of the importance of using iodised salt. Nonetheless, there is a limited knowledge on salt handling practices including discretionary salt use exacerbated by poor school food environment. To optimally eliminate IDDs, the government should now place more emphasis on proper salt handling practices from the production site, food handlers, and much more to consumers. School children should be encouraged on healthy eating habits, by improving school feeding programs and change the current food environments in schools.

Long-term treatment with ganaxolone for seizures associated with cyclin-dependent kinase-like 5 deficiency disorder: Two-year open-label extension follow-up.

In the placebo-controlled, double-blind phase of the Marigold study (NCT03572933), ganaxolone significantly reduced major motor seizure frequency (MMSF) in patients with cyclin-dependent kinase-like 5 deficiency disorder (CDD). We report 2-year safety and clinical outcomes data from the open-label extension (OLE) phase of Marigold. Patients with CDD who completed the double-blind phase were eligible to continue in the OLE. Efficacy assessments included MMSF reduction from prerandomization baseline, responder rates, and Clinical Global Impression-Improvement scores, including assessment of seizure intensity and duration (CGI-CSID). Safety assessments included treatment-emergent adverse events (TEAEs) and TEAEs leading to discontinuation. Of 101 patients who enrolled in Marigold, 88 (87.1%) entered the OLE (median age = 5 years, 79.5% female). Median 28-day MMSF at baseline was 50.6. At 2 years in the OLE (months 22-24), MMSF was reduced by a median of 48.2% (n = 50); when missing data were imputed, median reduction in MMSF was 43.8% using a mixed effects model and 27.4% using a last observation carried forward model. During months 22-24, 23 of 50 (46.0%) patients experienced reductions in MMSF of ≥50%; 12 of 50 (24.0%) patients experienced MMSF reductions of ≥75%. During months 22-24, 40 of 49 (81.6%) patients were rated by caregivers as having improvement in seizure-related outcomes based on CGI-CSID scores. Thirty-seven patients discontinued ganaxolone due to lack of efficacy (n = 13), withdrawal by caregiver (n = 12), adverse event (n = 10), physician decision (n = 1), or death (n = 1; unrelated to study drug). The most common treatment-related TEAEs were somnolence (17.0%), seizure (11.4%), and decreased appetite (5.7%). Patients reported serious TEAEs (n = 28, 31.8%); those reported in ≥3% of patients were seizure (n = 6), pneumonia (n = 5), acute respiratory failure (n = 3), aspiration pneumonia (n = 3), and dehydration (n = 3). Sustained reductions in MMSF at 2 years in the OLE support the efficacy of ganaxolone in seizures associated with CDD. Safety findings in the OLE were consistent with the double-blind phase.

Evaluating Sex-Based Hemoglobin Reference Intervals Using Strict Definitions of Health

Introduction: Hemoglobin reference intervals (RIs) are developed by laboratory assay manufacturers, and laboratories establish a RI using 120 “normal” samples when first implementing a new assay. Many institutions report different hemoglobin RIs for females and males with wide variation between institutions. Re-evaluation of hemoglobin RIs is warranted to ensure that optimal health for all patients is accurately represented. Using National Health and Nutrition Examination Survey (NHANES) data, we evaluated the impact of excluding adults with chronic disease, iron deficiency (ID), inflammation, and red blood cell (RBC) disorders on hemoglobin lower limit of normal (LLN). Methods: Adults &amp;gt; 20 years in the NHANES from 2001-2006 and 2017-2020 were included. Demographic characteristics, self-reported medical history and medication use, and laboratory parameters were extracted. We generated hemoglobin distributions weighted to represent the population of the USA. From these distributions, 2.5%, 50%, and 97.5% values were individually and compositely evaluated when excluding chronic disease (defined as the healthy cohort), ID, inflammation, and RBC disorders. The healthy cohort excluded patients with a medical history of anemia, malignancy, current pregnancy, smoking, or liver, lung, kidney, or heart disease. Iron deficiency was defined as ferritin &amp;lt; 50 ng/mL, transferrin saturation (Tsat)&amp;lt;20%, or total iron binding capacity (TIBC) &amp;gt; 400 μg/dL. Inflammation was defined as ferritin&amp;gt;300 ng/mL, hs-CRP&amp;gt;1 mg/L, albumin&amp;lt;3.5 g/dL, white blood cells&amp;gt;10 K/uL, or TIBC&amp;lt;200 μg/dL. RBC disorders were defined as history of blood transfusion, MCV &amp;lt;80 or &amp;gt;100, Tsat&amp;gt;55%, MCHC &amp;gt;36, Mentzer index&amp;lt;13, or hydroxyurea or iron chelator use. Finally, we conducted several sensitivity analyses that assessed degree of ID at different levels of ferritin ranging from &amp;lt; 15 ng/mL to &amp;lt; 100 ng/mL. All analyses were conducted in R using the survey package. Results: There were 10,338 individuals in the total cohort, 5757 in the healthy cohort, and 1609 in the cohort with all exclusions applied. Among females, the hemoglobin LLN was 10.7g/dL in the total cohort, 10.6g/dL in the healthy cohort, 10.4g/dL in the cohort excluding inflammation, 11.7g/dL in the cohort excluding RBC disorders, 12.2g/dL in the cohort excluding ID, and 12.3g/dL in the cohort with all exclusions applied. Among males, the hemoglobin LLN was 12.5g/dL in the total cohort, 12.9g/dL in the healthy cohort, 12.9g/dL in the cohort excluding inflammation, 13.2g/dL in the cohort excluding RBC disorders, 13.0g/dL in the cohort excluding ID, and 13.3g/dL in the cohort with all exclusions applied. The difference between male and female hemoglobin LLN narrowed from 2.3g/dL (12.9g/dL vs 10.6g/dL) in the healthy cohort to 1g/dL (13.3g/dL vs 12.3g/dL) in the cohort with all exclusions applied. For males, the largest difference in hemoglobin LLN was seen when RBC disorders were excluded (12.9g/dL to 13.2g/dL; 0.3g/dL difference), and for females the greatest difference was seen when ID was excluded (10.6g/dL to 12.2g/dL; 1.6g/dL difference). Hemoglobin LLN by menopausal status for females and by age for males is shown in Figure 1. Pre-menopausal females had a significant increase in hemoglobin LLN when ID alone was excluded (10.3g/dL to 12.3g/dL), but this degree of change was not observed in healthy post-menopausal females or males. Degree of ID by ferritin level by sex and menopausal status or age is shown in Figure 2. Using a threshold of ferritin &amp;lt;30 ng/mL, 38.9% of pre-menopausal females were iron deficient compared with 10.3% of post-menopausal females and 3.5% of males. Discussion: Applying strict criteria for health and specifically excluding inflammation, RBC disorders, and ID resulted in higher hemoglobin LLN for both sexes and narrowed the difference in LLN between males and females. Pre-menopausal females had the most significant change in hemoglobin LLN from the healthy cohort to the cohort with all exclusions applied, and this was predominately driven by a very high prevalence of ID. ID is a pandemic that disproportionally impacts females of reproductive age. These findings emphasize the burden of ID and its systemic consequences, including normalization of anemia. It is imperative that institutions rigorously and thoughtfully define their hemoglobin RIs by ensuring that strict definitions of health are applied with an emphasis on excluding those with ID.

Awareness of the Effect of Vitamin B12 Deficiency on the Nervous System Among the General Population in Taif, Saudi Arabia.

Vitamin B12 is important for the health of the nervous system, its deficiency leads to various neurological manifestations such as visual problems, ataxia, peripheral neuropathy, dementia, etc. The deficiency can be caused by malnutrition, malabsorption, or increased demand. Early detection is important for the control and prevention of complications. In December 2021, a population-based cross-sectional survey was carried out among Saudi males and women at least 18 years old. There were 383 participants in the sample. An electronic survey distributed over social media was used to collect the data. SPSS version 28 was used to analyze the data. The majority of the respondents were female (88%). Most participants were aged 18-25 years (44%). Regarding participants' awareness and knowledge of vitamin deficiency, 64% were aware of vitamin B12 deficiency. 41.7% of participants knew about food sources of vitamin B12, 29.0% knew how to prevent it, and 30.0% took vitamin B12 supplements. (92.2%) of the participants were not following vegetarian or vegan diets. Difficulty concentrating accounted for the highest number of reported symptoms by the respondents (53.8%). This study recommends a scientific approach encouraging patients to self-report their B12 deficiency in medical institutions. In addition, a study about the relationship between B12 deficiency and other neurodegenerative disorders is also a recommendation of this study.

Natural language processing and expert follow-up establishes tachycardia association with CDKL5 deficiency disorder

PurposeCDKL5 deficiency disorder (CDD) is a developmental and epileptic encephalopathy with multisystemic comorbidities. Cardiovascular involvement in CDD was shown in animal models but is yet poorly described in CDD cohorts. MethodsWe identified 38 individuals with genetically confirmed CDD through the Cleveland Clinic CDD specialty clinic and matched 190 individuals with non-genetic epilepsy to them as a comparison group. Natural language processing was applied to yield Human Phenotype Ontology (HPO) terms from medical records. We conducted HPO association testing and manual chart review to explore cardiovascular comorbidities associated with CDD. ResultsWe extracted 243,541 HPO terms from 30,512 medical encounters. Phenome-wide analysis confirmed well-established CDD phenotypes and identified association of tachycardia with CDD (Odds ratio 4.2, 95% confidence interval (CI) 1.75-9.93, Padj < .001). We found a 99.6-fold enrichment of supraventricular tachycardia (SVT) in CDD encounter notes (Padj < .001), which led to identification of 2 cases of fetal/neonatal onset SVT previously undescribed in CDD. Tachycardia in CDD individuals was associated with the presence of other autonomic symptoms (Odds ratio 5.63, 95% CI 1.08-40.3, P = .038). ConclusionCDD is associated with tachycardia, potentially including early-onset SVT. Alongside prospective validation studies, semiautomated genotype-phenotype analysis with matched controls is a scalable, rapid, and efficient approach for validating known and identifying novel phenotype associations.

Hypothyroidism and growth hormone deficiency as a complication of Turner Syndrome: Case Report

Turner syndrome is a rare disease with a global prevalence of 64 per 100 000 live births, due to the total or partial loss of a sex chromosome of the 45X pair, mosaic karyotype. It is associated with multiple complications such as hypothyroidism, growth hormone deficiency and other endocrine disorders. Case presentation: female patient, 27 years old, who since childhood presented severe growth problems, in addition to psychomotor problems; with the passage of time there was no improvement in her height for age, so a genetic disorder was suspected. At 9 years of age, a genetic karyotype test was performed and the diagnosis of Turner Syndrome was confirmed. To this diagnosis was added: hypothyroidism, hypogonadism and osteopenia of the hip and spine. Therefore, her treatment was mainly based on hormone replacement therapy with estrogen and progesterone derivatives, such as estradiol and medroxyprogesterone acetate until she was 16 years old; in addition to growth hormone. Over the years her clinical picture improved significantly, especially in her growth, reaching her final height of 1,49 cm.Conclusion: currently the patient remains stable with a lucid neurological condition, continues with her hormone replacement therapy for hypothyroidism and osteopenia

Production cooked sausages with the addition of iodized salt

Iodine deficiency in the biosphere, mainly in the soil, leads to endemic goiter and other iodine deficiency disorders. As shown by numerous studies, this disease affects over 1 billion people in the world. Endemic goiter and much of the territory of Ukraine, including the Vinnytsia region. Presented current research study of recipes and technologies on system-cooked sausages. Currently, boiled sausage enjoys relatively high demand among the population because it is significant for most people, giving it an advantage. Innovation activity represents one of the most effective directions. It should facilitate the development of innovative activity that promotes penetration into new markets and production growth. Today, the most essential and effective innovative organizational and technical measures introduced in sausage production can be considered are the use of new recipes for manufacturing products and the installation of new equipment, which can significantly reduce the cost of manual labor and power inputs and improve product quality and reduce the share of marriage. Sausage production is seen as a thermochemical method of preserving meat products. For each type of sausage, set production process-approved technological instructions and recipes. Strict adherence to recipes, specialized instructions, and sanitary regimes is a prerequisite for obtaining high-quality links. Crucial in the production of sausages is raw. The primary raw materials are beef and pork. Occasionally, use lamb and horsemeat. Equally important is the creation of a new generation of products that have general strengthening and preventive action. The components of these products can protect the body from the harmful effects of the environment and the emergence of human diseased cells. The constant lack of iodine leads to a reduction in the synthesis and secretion of the primary thyroid hormone - thyroxine. The role of thyroid hormones in the body is extremely high, and most of the vital functions are performed by their participation. The main physiological effects of thyroid hormone are stimulating synthesis, growth, development, and differentiation of tissues. Developed products to include microorganisms that can synthesize biologically active structures (antibodies, receptors, hormones) that contribute to the removal or destruction of harmful decay and systems, thereby preventing human disease.

Mosaicism in BRPF1-Related Neurodevelopmental Disorder: Report of Two Sisters and Literature Review

Bromodomain and PHD finger containing 1 (BRPF1)-related neurodevelopmental disorder is characterized by intellectual disability, developmental delay, hypotonia, dysmorphic facial features, ptosis, and blepharophimosis. Both de novo and inherited pathogenic variants have been previously reported in association with this disorder. We report two affected female siblings with a novel variant in BRPF1 c.2420_2433del (p.Q807Lfs ∗ 27) identified through whole-exome sequencing. Their history of mild intellectual disability, speech delay, attention deficient hyperactivity disorder (ADHD), and ptosis align with the features previously reported in the literature. The absence of the BRPF1 variant in parental buccal samples provides evidence of a de novo frameshift pathogenic variant, most likely as a result of parental gonadal mosaicism, which has not been previously reported. The frameshift pathogenic variant reported here lends further support to haploinsufficiency as the underlying mechanism of disease. We review the literature, compare the clinical features seen in our patients with others reported, and explore the possibility of genotype-phenotype correlation based on the location of pathogenic variants in BRPF1. Our study helps to summarize available knowledge and report the first case of a de novo frameshift pathogenic variant in BRPF1 in two siblings with this neurodevelopmental disorder.

Prevalence and risk factor of anemia among pregnant women admitted in antenatal ward in PBMH Bhubaneswar, Odisha.

Anemia is one of the contributing factors for morbidity and mortality during pregnancy in developing country including India, which eventually leads to fetal and maternal consequences. Growing fetus depends completely on mothers for all its growth and maturity. Anemia is one of the nutritional deficiency disorders and around 56% of women are suffering from anemia in India. It is one of the reasons for maternal deaths and fetal complication during pregnancy. The aim of the study was to assess the prevalence of anemia and to determine the risk factors of anemia among pregnant women in PBMH hospital, Bhubaneswar, Odisha. A descriptive cross-sectional study was conducted over a period of 1 month from October 11, 2022, to November 11, 2022, from the Department of Obstetrics and Gynecology of Pradyumna Bal Memorial Hospital KIMS, Bhubaneswar. A total sample comprised of 52 pregnant women who were interviewed by using self-structured questionnaire for data collection and classification of anemia was performed according to the Indian Council of Medical Research (ICMR) criteria. A total of 52 antenatal mothers were admitted during this study period (October 11, 2022, to November 11, 2022), and all were selected as study sample. The incidence of anemia among antenatal mother in PBM hospital was found as follows: 17 (33%) mild, 04 (07%) moderate, and 02 (04%) were severe in this present study. The most common indication of anemia among antenatal mother as per the present study was found to be H/O infection (21%), chronic malaria (15%), hook worm (27%), and birth interval (42%). The study implies that the prevalence rate of Anemia is high, that is, 44.2%. Spacing between pregnancy and H/O infection plays a significant role in considering anemia in pregnant women, which eventually affects both maternal and fetal condition.